diff --git "a/benchmark.jsonl" "b/benchmark.jsonl"
new file mode 100644--- /dev/null
+++ "b/benchmark.jsonl"
@@ -0,0 +1,625 @@
+{"pmid": "15308855", "patient_info": {"basic_info": "53-year-old male presented with right chest pain. Physical examination and laboratory studies were unremarkable.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/15308855/fig/1.jpg"], "caption": "Chest radiograph of the thorax.", "detailed_caption": "Chest radiographs showed a well marginated anterior mediastinal mass in the entire right lung zone, compressing the lower trachea, right bronchus, and heart toward the left side", "modalities": ["x-ray"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/15308855/fig/2.jpg"], "caption": "At surgery, after aspiration of fluid within the cystic mass, pericardial invasion was noted. Thus, partial resection of the mass was done.Photomicrograph (H-E stain, ×40)", "detailed_caption": "Photomicrograph (H-E stain, ×40) shows tumor cells forming cords or solid sheets within the fibrous stroma. Three cellular compositions; intermediate, squamous, and mucous cells are noted. Small spaces filled with mucus are also present.", "modalities": ["pathology"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/15308855/fig/3.jpg"], "caption": "(A) Chest CT scan at the level of aortic origin. (B) Contrast-enhanced chest CT scan.", "detailed_caption": "(A) Chest CT scan at the level of aortic origin demonstrates a huge, low attenuating, cystic mass in anterior mediastinum with internal septa and heterogeneous solid area anteromedially.(B) Contrast enhanced CT scan shows the focal solid mass area with heterogeneous enhancement anteromedially and irregular margin between the mass and anterior chest wall and pericardium.", "modalities": ["ct"]}], "diagnosis": "Poorly differentiated mucoepidermoid carcinoma of the thymus", "standardized_diagnosis": [{"original_term": "Mucoepidermoid carcinoma of thymus", "corrected_term": null, "code": "2C27.0", "title": "Mucoepidermoid carcinoma of thymus", "chapter": "Neoplasms", "primary": true}]}, "year": 2004, "classification": "Neoplastic diseases"}
+{"pmid": "16643652", "patient_info": {"basic_info": "A 41-year-old man presented in September 2003 with unexp weight gain, facial plethora, tremor, sweating, newly-diagnosed hypertension, hypokalemia, and diabetes mellitus. Physical examination revealed blood pressure of 170/110 mm Hg, pulse of 88 bpm, thyroid enlargement, and cushingoid features including striae, moon face, central obesity, and a buffalo hump. Laboratory testing showed hyperthyroidism with undetectable TSH, free T4 of 32 pmol/L (normal: 12-22), and free T3 of 9 pmol/L (normal: 3.95-6.80). Hypercortisolism was evident with 24-hour urinary free cortisol of 7579 nmol per day (normal: 22-212), elevated basal serum cortisol of 1307 nmol/l (normal: 187-724), and elevated plasma ACTH of 22.51 pmol/l (normal: 1.98-11.4). Midnight cortisol was elevated at 847 nmol/l. After a 2-mg overnight dexamethasone suppression test, serum cortisol remained elevated at 1132 nmol/l (normal <80). After an 8-mg dexamethasone suppression test, serum cortisol decreased by only 38% suggesting ectopic ACTH secretion. CRH stimulation resulted in less than 4% increase in serum cortisol and plasma ACTH. Inferior petrosal sinus sampling did not show significant central-to-peripheral ACTH gradients. Thyroid ultrasound showed multinodular goiter, and Tc-99m-pertechnetate thyroid scan revealed increased uptake corresponding to an autonomous adenoma. Serum calcitonin was normal, and thyroid antibodies were negative. Twenty-four hour urinary catecholamines including fractionated metanephrines were negative.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/16643652/fig/1.jpg"], "caption": "T1-weighted gadolinium-enhanced MRI of the pituitary.", "detailed_caption": "T1-weighted gadolinium-enhanced MRI of the pituitary. A hypointense lesion of the neurohypophysis is indicated.", "modalities": ["mri"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/16643652/fig/2.jpg"], "caption": "^111In-pentetreotide scintigraphy of the thyroid region", "detailed_caption": "111In-pentetreotide scintigraphy. Radiotracer accumulation in the left thyroid in 10/2003 (arrow). The mesenterial neuroendocrine tumor became clearly visible in 4/2005 (arrow).", "modalities": ["pet/spect/nuclear"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/16643652/fig/3.jpg"], "caption": "(upper) CT of the abdomen. (lower) MRI of the abdomen, fat-saturated and T1-weighted sequences after gadolinium, mesentery.", "detailed_caption": "CT and MRI scans of the abdomen. In 4/2005, a mass (circle) is shown which has also been there in earlier scans but had been interpreted as normal intestine. Fat-saturated and T1-weighted MRI scanning after gadolinium shows a mass in the mesentery outside the intestine.", "modalities": ["ct", "mri"]}], "diagnosis": "Ectopic Cushing syndrome caused by a neuroendocrine carcinoma of the mesentery", "standardized_diagnosis": [{"original_term": "Ectopic Cushing syndrome", "corrected_term": null, "code": "5A70.1", "title": "Ectopic Cushing syndrome", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": false}, {"original_term": "Neuroendocrine carcinoma of the mesentery", "corrected_term": null, "code": "2D4Y", "title": "neuroendocrine carcinoma of unspecified site", "chapter": "Neoplasms", "primary": true}]}, "year": 2006, "classification": "Endocrine and metabolic disorders"}
+{"pmid": "15082907", "patient_info": {"basic_info": "A 29-year-old woman presented to the emergency room in September 2001 with low abdominal pain. Laboratory examination revealed severe anemia. Both direct and indirect Coomb's tests were positive, confirming autoimmune hemolytic anemia. The erythrocyte sedimentation rate was 30 mm/hr, while C-reactive protein was not increased. Anti-nuclear antibody and anti-double-stranded DNA antibody were absent, and complement levels were normal. Peripheral blood smear showed normocytic normochromic anemia with red blood cell agglutination. Physical examination during exploratory laparotomy in November 2001 revealed a multinodular mass involving the right ovary that was not adherent to adjacent organs. The left Fallopian tube, ovary, uterus, and kidneys were normal, and the liver, diaphragm, and omentum were not involved. No enlarged lymph nodes greater than 1 cm were identified in the abdomen. Additional diagnostic workup including chest, abdomen, and neck CT scans, Gallium-67 scan, endoscopy, bone marrow biopsy, and serum protein electrophoresis showed no abnormalities.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/15082907/fig/1.jpg"], "caption": "Pelvis MRI.", "detailed_caption": "Pelvis MRI showing a well-marginated large mass in the pelvic cavity", "modalities": ["mri"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/15082907/fig/2.jpg"], "caption": "Gross pathological photograph of the cut surface of the right ovarian lesion.", "detailed_caption": "Figure 2 depicts a gross pathological photograph of the cut surface of the right ovarian lesion, demonstrating a solid, gray-white to yellow, multilobulated tumor.", "modalities": ["pathology"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/15082907/fig/3.jpg"], "caption": "Gross examination of the right ovarian mass measuring 14 × 10 × 9 cm.", "detailed_caption": "Gross examination of the right ovarian mass measuring 14 × 10 × 9 cm with cut surface revealing a solid, gray-white to yellow, multilobulated tumor", "modalities": ["pathology"]}, {"type": "tab", "id": 1, "subfig": null, "path": ["images/15082907/tab/4.jpg"], "caption": "Laboratory results at time of diagnosis.", "detailed_caption": "Serial laboratory findings showing initial hemoglobin of 6.7 g/dL, reticulocyte count of 7.2%, lactate dehydrogenase of 2450 U/L, and total/direct bilirubin of 3.2/1.0 mg/dL at time of diagnosis", "modalities": ["lab"]}], "diagnosis": "Primary ovarian non-Hodgkin's lymphoma, diffuse large B-cell type, accompanied by autoimmune hemolytic anemia", "standardized_diagnosis": [{"original_term": "Primary ovarian non-Hodgkin's lymphoma, diffuse large B-cell type", "corrected_term": null, "code": "2A81.Z", "title": "Diffuse large B-cell lymphomas", "chapter": "Neoplasms", "primary": true}, {"original_term": "Autoimmune hemolytic anemia", "corrected_term": null, "code": "3A20.0", "title": "autoimmune haemolytic anaemia", "chapter": "Diseases of the blood or blood-forming organs", "primary": false}]}, "year": 2004, "classification": "Neoplastic diseases"}
+{"pmid": "16925819", "patient_info": {"basic_info": "A 32-year-old woman, gravida 1 para 0, presented during her first pregnancy with a medical history significant for cervical intraepithelial neoplasia (CIN II) treated 2 years prior by loop excision and bilateral breast reduction with complicated but spontaneous wound healing 13 years earlier. At 18 weeks of gestation, she was diagnosed with chronic hypertension with maximum diastolic blood pressure of 95 mm Hg. At 31 weeks and 4 days of gestation, she presented with lower abdominal pain and fever, having experienced flu-like symptoms, headache, and sore throat two weeks prior. Physical examination revealed body temperature of 38.3°C, uterine contractions, and fundal height corresponding to 29 weeks of gestation. The cervix was 1 cm dilated and completely effaced with intact amniotic membranes. Ultrasound showed fetal growth corresponding to the fifth percentile and oligohydramnios. Fetal cardiotocogram showed variable fetal heart rate of 160 beats per minute with late decelerations, and external tocodynamometry registered uterine contractions. Blood tests revealed high white blood cell count of 24.4 × 10.9/L with neutrophilia and elevated C-reactive protein of 170 mg/L. Following cesarean section for suspected fetal distress, she developed postoperative complications including persistent fever, rising inflammatory markers, and ultimately a non-healing surgical wound despite standard wound care and antibiotic treatment.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/16925819/fig/1.jpg"], "caption": "Clinical photograph of the surgical wound 23 days after cesarean delivery.", "detailed_caption": "Shows the surgical wound 23 days after cesarean delivery, displaying violaceous colored wound borders with an expanding ulcerative defect, measuring approximately 15-20 cm in length with purulent appearance and characteristic features of pyoderma gangrenosum", "modalities": ["clinical"]}], "diagnosis": "Pyoderma gangrenosum", "standardized_diagnosis": [{"original_term": "Pyoderma gangrenosum", "corrected_term": null, "code": "EB21", "title": "Pyoderma gangrenosum", "chapter": "Diseases of the skin", "primary": true}]}, "year": 2006, "classification": "Dermatologic and mucosal diseases"}
+{"pmid": "15745454", "patient_info": {"basic_info": "A 5-year-old male patient presented with inflammation and swelling in his left mandible and wrist without a history of trauma. He had a past medical history of several episodes of pneumonia starting at age seven months. During his second admission eight months later, his major complaints were severe dyspnea, persistent cough, and chest and abdominal pain in the epigastric area that had started 10 days prior. Initial laboratory findings showed erythrocyte sedimentation rate (ESR) 84 mm/h, WBC count 12,100/mm³ (61% neutrophils, 39% lymphocytes), hemoglobin 11.3 g/dl, and thrombocyte count 386,000/mm³. CRP was elevated at 20 mg/dl. Roentgenogram revealed osteolytic lesions in the distal metaphysis of hand and maxillary bone. Bone biopsy showed non-necrotizing granulomatoid lesions. The purified protein derivative reaction showed 10 mm diameter induration. HIV, hepatitis B surface antigen, rheumatoid factor, and brucella agglutination tests were all negative. Serum IgG level was elevated at 1650 mg/dl (normal: 441-1135 mg/dl), while IgM and IgA were in high normal range at 250 and 175 mg/dl, respectively. The nitroblue-tetrazolium (NBT) slide test result was 0, confirming chronic granulomatous disease (CGD) as the underlying condition.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/15745454/fig/1.jpg"], "caption": "Clinical photograph of the right upper abdominal region, performed at readmission eight months after initial treatment.", "detailed_caption": "Figure 1 presents a clinical photograph depicting subcutaneous swelling and granuloma formation in the right upper quadrant of the abdomen, corresponding to a tender mass observed on admission during the patient’s readmission eight months after initial treatment; this image documents the anatomical site and gross pathological findings, without the use of specialized imaging modality or staining, at the time of acute symptoms.", "modalities": ["clinical"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/15745454/fig/2.jpg"], "caption": "CT of the liver, right lobe, with adjacent lower right ribs and soft tissue.", "detailed_caption": "Computerized tomography showed a hypodense area in right lobe of liver with peripheral enhancement, with adjacent involvement of lower right ribs and reaction to soft tissue, indicating rib osteomyelitis", "modalities": ["ct"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/15745454/fig/3.jpg"], "caption": "KOH 10% preparation of hepatic abscess, microscopic examination.", "detailed_caption": "KOH 10% preparation of hepatic abscess showing dichotomous septated hyaline hyphae, with microscopic examination revealing branched, septated, and dichotomous mycelia that was identified as Aspergillus fumigatus based on microscopic and macroscopic findings including rapid growth, bluish green colonies, and characteristic morphology", "modalities": ["pathology"]}], "diagnosis": "Invasive aspergillosis with Aspergillus osteomyelitis of the ribs and hepatic abscess in a CGD patient, with Aspergillus fumigatus identified as the causative agent", "standardized_diagnosis": [{"original_term": "Chronic granulomatous disease", "corrected_term": null, "code": "4A00.0Y", "title": "Chronic granulomatous disease", "chapter": "Diseases of the immune system", "primary": false}, {"original_term": "Invasive aspergillosis", "corrected_term": null, "code": "1F20.0Z", "title": "Invasive aspergillosis", "chapter": "Certain infectious or parasitic diseases", "primary": true}, {"original_term": "Aspergillus osteomyelitis", "corrected_term": null, "code": "1F20.0Y", "title": "Aspergillus osteomyelitis", "chapter": "Certain infectious or parasitic diseases", "primary": false}, {"original_term": "Hepatic abscess", "corrected_term": null, "code": "DB90.0", "title": "Abscess of liver", "chapter": "Diseases of the digestive system", "primary": false}]}, "year": 2005, "classification": "Infectious and immunologic disorders"}
+{"pmid": "15832010", "patient_info": {"basic_info": "A 47-year-old male patient presented with tenesmus and mucoid stool and was admitted to the hospital via a local clinic. He had a 20-year smoking history of one pack of cigarettes daily and did not drink alcohol. His past medical history was significant for pulmonary tuberculosis 20 years ago, which was treated with anti-tuberculosis medication for 9 months. On admission, he appeared in good health without complaints of weight loss, fever, or night sweats. His vital signs showed blood pressure of 110/90 mmHg, pulse rate of 78/min, body temperature of 36.2°C, and respirations of 18/min. Physical examination revealed a normal appearance with no remarkable findings except a depressed anterior chest wall, no lymphadenopathy, clear breath sounds, and regular heart sounds without murmurs. Laboratory findings showed hemoglobin 13.4 g/dL, white blood cells 4,600/μL, platelets 305,000/μL, AST 22 IU/L, ALT 35 IU/L, ALP 47 IU/L, GGT 42 IU/L, LDH 393 U/L, BUN 14.8 mg/dL, creatinine 1.0 mg/dL, uric acid 6.2 mg/dL, and calcium 3.6 mg/dL. Chest radiograph showed a white lesion in the right upper lung field thought to be a healed scar from pulmonary tuberculosis. Upper gastrointestinal endoscopy revealed a healed ulcer in the duodenal bulb with negative rapid urease test for Helicobacter pylori. Additional staging evaluation revealed β2-microglobulin titer of 1,770 μg/L (normal range), serum protein electrophoresis showing polyclonal gammopathy pattern, abdominal CT showing no lymphadenopathy, and bone marrow aspiration and biopsy showing no remarkable findings.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/15832010/fig/1.jpg"], "caption": "(A) Colonoscopy at admission, rectum. (B) Colonoscopy at admission, appendiceal orifice.", "detailed_caption": " Colonoscopic findings at admission. (A) Colonoscopy showing granular & reddish mucosal thickening in the rectum just above anus.(B) Colonoscopy showing reddish inflammatory mucosal swelling in the appendiceal orifice.", "modalities": ["endoscopy"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/15832010/fig/2.jpg"], "caption": "(A) Colon biopsy, H&E staining, 200× magnification. (B) Colon biopsy, immunohistochemical staining for CD20, 200× magnification.", "detailed_caption": "Histologic findings of biopsy specimens. (A) Neoplastic lymphoid cells infiltrated colonic gland resembling a lymphoepithelial lesion (H&E, ×200). (B) Immunohistochemical stain for CD 20 showing diffuse reaction in the cell membrane. Lymphoepithelial lesions (arrow heads) are also positive for CD20 (×200).", "modalities": ["pathology"]}], "diagnosis": "Low grade MALT lymphoma of stage IE (using Ann-Arbor staging) and stage II (using St. Jude Children's Research Hospital staging)", "standardized_diagnosis": [{"original_term": "Low grade MALT lymphoma", "corrected_term": null, "code": "2A85.1", "title": "MALT - [mucosa associated lymphoid tissue] lymphoma", "chapter": "Neoplasms", "primary": true}]}, "year": 2005, "classification": "Neoplastic diseases"}
+{"pmid": "12124406", "patient_info": {"basic_info": "Patient 1: One-year-old Navajo male, appeared well until 5 months when skull and thorax deformities were noted. At 7 months, skeletal abnormalities were discovered during chest radiography for pneumonia. History includes streptococcal pneumonia with meningitis at 10 months. Physical exam showed: small stature (below 3rd percentile for length, 5th percentile for weight), deafness, tachypnea, weakness, short humeri, markedly delayed gross motor skills, and poor muscle tone. Laboratory findings: hypercalciuria (401 mg calcium/g creatinine), elevated serum alkaline phosphatase (2716 U/L; normal 133-347), excessive urinary deoxypyridinoline (173 nmol/mmol creatinine; normal 2-41).", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/12124406/fig/1.jpg"], "caption": "(A) Clinical photograph of Patient 1 at initial evaluation.", "detailed_caption": "A: Figure 1 (A) is a clinical photograph depicting Patient 1, a one-year-old male proband with juvenile Paget’s disease, demonstrating a disproportionately large head, deformed chest, curvature of the limbs, and marked weakness, with the image serving as a gross clinical representation of the phenotypic manifestations at the time of initial evaluation.", "modalities": ["clinical"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/12124406/fig/2.jpg"], "caption": "Radiograph of right proximal femur, anteroposterior view.", "detailed_caption": "Anteroposterior radiograph of right proximal femur shows markedly widened, poorly modeled and osteopenic bone, with cortical thinning and coarse trabecular pattern", "modalities": ["x-ray"]}], "diagnosis": "Juvenile Paget's disease caused by homozygous deletion of TNFRSF11B (the gene encoding osteoprotegerin)", "standardized_diagnosis": [{"original_term": "Juvenile Paget's disease", "corrected_term": null, "code": "FB85.0", "title": "Juvenile Paget disease", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": true}]}, "year": 2002, "classification": "Orthopedic and connective tissue disorders"}
+{"pmid": "17366829", "patient_info": {"basic_info": "27-year-old male presented with sudden loss of central vision in right eye in March 2002, followed by vision loss in left eye within 18 days. Patient was a light occasional drinker and moderate smoker (15 cigarettes/day for 5 years). History of chronic headaches responsive to painkillers. Previously worked as electrician, then in glue factory since 1998. Headaches worsened after starting work in glue factory, particularly after transfer to glue preparation department. Initial fundus examination showed microangiopathy and pseudoedema of optic disc in both eyes. One month after onset, visual acuity was 1/100 in right eye and 7/10 in left eye. By June 2002, had bilateral paleness of optic discs and inability to count fingers with either eye, with complaints of disturbing photopsias. Blood test positive for homoplasmic 11778G → A/ND4 mutation. mtDNA belonged to haplogroup H. Pre-treatment lab results showed increased urinary 2,5-hexandione (4.1 mg/L) and hippuric acid (1,040 mg/L).", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/17366829/fig/1.jpg"], "caption": "(A) Optical coherence tomography of the right eye, RNFL thickness in each quadrant, at 9, 10, or 15 months of follow-up. (B) Optical coherence tomography of the left eye, RNFL thickness in each quadrant, at 9, 10, or 15 months of follow-up.", "detailed_caption": "RNFL thickness in each quadrant of the eye, as measured by optical coherence tomography. (A ) Right eye. (B ) Left eye. Solid lines refer to the patient’s eyes at 9, 10, or 15 months of follow-up; dashed and dotted lines refer to historical groups of healthy subjects (control) and of patients in an advanced stage of LHON with atrophy of the optic nerve ", "modalities": ["ophthalmic imaging"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/17366829/fig/2.jpg"], "caption": "Pedigree analysis with mtDNA analysis of the maternal line. mtDNA analysis of the patient and his mother and siblings (asterisks) revealed the homoplasmic 11778/ND4 LHON muta- tion in all four of them", "detailed_caption": "Figure 2 on page 2 presents a three-generation pedigree reconstruction of the patient’s maternal line, showing the results of mtDNA analysis which detected the homoplasmic 11778/ND4 LHON mutation in the patient, his mother, and his siblings (indicated with asterisks); the pedigree diagram displays gender, affected status, and deceased individuals, demonstrating that although all tested maternal relatives carry the mutation, only the reported patient developed Leber hereditary optic neuropathy.", "modalities": ["genetic"]}], "diagnosis": "Leber hereditary optic neuropathy (LHON) with homoplasmic 11778G → A/ND4 mutation", "standardized_diagnosis": [{"original_term": "Leber hereditary optic neuropathy", "corrected_term": null, "code": "8C73.Y", "title": "Leber hereditary optic neuropathy", "chapter": "Diseases of the nervous system", "primary": true}]}, "year": 2007, "classification": "Neurological disorders"}
+{"pmid": "17728524", "patient_info": {"basic_info": "63-year-old man with well-controlled hypertension and diabetes was referred from primary clinic due to hepatic mass found on ultrasonography. Physical examination was unremarkable. Laboratory findings showed normal hematological indexes, liver function tests, and renal functions. Patient was negative for viral markers with normal α-fetoprotein levels. Bone marrow biopsy showed 30% marrow cellularity but was otherwise normal. Serum calcium, β-2 microglobulin, and serum/urine protein immunoelectrophoresis were normal. Skeletal radiography revealed no abnormalities.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/17728524/fig/1.jpg"], "caption": "(A) Contrast-enhanced CT of the liver, arterial phase, segment VI, 2×2 cm mass. (B) Contrast-enhanced CT of the liver, portal venous phase, hypodense mass. (C) MRI of the liver, T1-weighted image. (D) MRI of the liver, T2-weighted image.", "detailed_caption": "Contrast-enhanced CT showed: (A) 2×2 cm well-enhanced mass in segment VI of liver during arterial phase, (B) hypodense mass in portal venous phase. MRI revealed: (C) well-defined mass with low signal intensity on T1-weighted image, (D) high signal intensity on T2-weighted image", "modalities": ["ct", "mri"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/17728524/fig/2.jpg"], "caption": "(A) Liver, H&E staining, 100× magnification. (B) Liver, H&E staining, 400× magnification. (C) Liver, ABC immunohistochemical staining, 200× magnification, IgG heavy chain. (D) Liver, ABC immunohistochemical staining, 200× magnification, kappa light chain.", "detailed_caption": "The liver shows diffuse solid proliferation of monotonous small round to ovoid cells (A: H&E, ×100). They have eccentric cytoplasm and round nuclei with peripheral condensation of chromatin (B: H&E, ×400). Immunohistochemical stains of the hepatic mass exhibit monoclonality for IgG heavy chain (C: ABC, ×200) and kappa light chain (D: ABC, ×200).", "modalities": ["pathology"]}], "diagnosis": "Solitary extramedullary plasmacytoma of the liver without systemic monoclonal gammopathy", "standardized_diagnosis": [{"original_term": "Solitary extramedullary plasmacytoma of the liver", "corrected_term": null, "code": "2A83.3", "title": "Extramedullary plasmacytoma", "chapter": "Neoplasms", "primary": true}]}, "year": 2007, "classification": "Neoplastic diseases"}
+{"pmid": "15871735", "patient_info": {"basic_info": "A 36-year-old obese woman with a 5-year history of type 2 diabetes presented to the emergency department with a 5-day history of fever, chills, cough with yellowish phlegm, and sharp right lower chest pain that worsened with deep breathing. Physical examination was initially unremarkable with the patient being afebrile and having clear lungs. She had a positive Mantoux test from 1976, smoked one pack per day, and consumed alcohol socially. There was a history of visiting her sister's cottage at a local lake a week prior to symptom onset, where she slept at the gazebo for two nights. When she returned to the hospital five days later due to persistent symptoms, she had a temperature of 39 degrees Celsius, mild tachycardia with heart rate of 104 beats per minute, normal blood pressure of 125/74 mmHg, respiratory rate of 18, and oxygen saturation of 96% on room air. Physical examination revealed decreased air entry with bronchial breath sounds in the right lower chest.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/15871735/tab/1.jpg"], "caption": "Table of demographics, timing of symptom onset and diagnosis relative to exposure, and clinical outcomes for five patients with acute blastomycosis pneumonia.", "detailed_caption": "Table 1 summarizes the demographics, timing of symptom onset and diagnosis relative to cottage or lake exposure, and outcomes for five patients with overwhelming acute blastomycosis pneumonia. It includes data on month of presentation to hospital, age, gender, weight in pounds, number of days from exposure to symptom onset, number of days to diagnosis after onset of symptoms and after hospitalization, and clinical outcome (death or recovery). Key findings are that all patients were obese, symptoms began within 6–10 days after exposure (except one unclear case), time to diagnosis ranged from 19 to 40 days after onset, and two patients died while three recovered.", "modalities": ["clinical"]}, {"type": "fig", "id": 1, "subfig": null, "path": ["images/15871735/fig/2.jpg"], "caption": "Chest X-ray, posteroanterior (PA) view, initial examination.", "detailed_caption": "Initial chest X-ray (PA view) showed early right lower lobe consolidation", "modalities": ["x-ray"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/15871735/fig/3.jpg"], "caption": "Chest X-ray, posteroanterior view, performed 5 days later.", "detailed_caption": "Follow-up chest X-ray (PA view) 5 days later showed progression of disease with infiltrates in right and left lower lobes", "modalities": ["x-ray"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/15871735/fig/4.jpg"], "caption": "CT scan of the chest performed 8 days after hospitalization.", "detailed_caption": "CT scan of chest performed 8 days after hospitalization showed bilateral consolidation of lungs, mainly of lower lung fields", "modalities": ["ct"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/15871735/fig/5.jpg"], "caption": "Chest X-ray, posteroanterior (PA) view, performed after 8 days of intravenous antibiotic therapy.", "detailed_caption": "Chest X-ray (PA view) after 8 days of intravenous antibiotic therapy showed further worsening of bilateral lower lung disease with nodular pattern, raising suspicion of metastatic disease", "modalities": ["x-ray"]}, {"type": "fig", "id": 5, "subfig": null, "path": ["images/15871735/fig/6.jpg"], "caption": "Wet preparation of sputum, 25% NaOH with 5% Glycerol mounting medium, 40× magnification.", "detailed_caption": "Wet preparation of sputum (25% NaOH with 5% Glycerol mounting medium, 40× magnification) showed budding yeast (blastocyst) consistent with Blastomyces dermatitidis", "modalities": []}], "diagnosis": "Acute blastomycosis pneumonia caused by Blastomyces dermatitidis", "standardized_diagnosis": [{"original_term": "Acute blastomycosis pneumonia", "corrected_term": null, "code": "1F22", "title": "Blastomycosis", "chapter": "Certain infectious or parasitic diseases", "primary": true}]}, "year": 2005, "classification": "Infectious and immunologic disorders"}
+{"pmid": "16891824", "patient_info": {"basic_info": "A 44-year-old man was hospitalized because of jaundice. Physical examination revealed normal findings except jaundice, and his past medical history was unremarkable. Complete blood count showed hemoglobin of 15 g/dL, white blood cell count of 8,200/μL with differential of 79% segmented neutrophils, 15% lymphocytes, 5% monocytes, and 1% eosinophils, and platelet count of 248,000/μL. Liver function test showed elevation of total bilirubin (15.3 mg/dL), direct bilirubin (9.4 mg/dL), and alkaline phosphatase (298 IU/L). Immunohistochemical stains showed tumor cells positive for leukocyte common antigen (CD 45) and negative for CD 3,4,5,8,10,21,23,56 and terminal deoxynucleotidyl transferase. Bone marrow aspirate and biopsy showed neither significant abnormalities nor evidence of myelodysplasia or leukemic infiltration.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/16891824/fig/1.jpg"], "caption": "(A) Abdominal CT, common hepatic duct level. (B) Abdominal CT, intrahepatic duct.", "detailed_caption": "Abdominal computed tomography demonstrating thickening of common bile duct wall, luminal narrowing at common hepatic duct level (A), and mild, diffuse dilatation of intrahepatic duct (B).", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/16891824/fig/2.jpg"], "caption": "Magnetic resonance cholangiography.", "detailed_caption": "Magnetic resonance cholangiography showing dilatation of both intrahepatic duct and right posterior duct", "modalities": ["mri"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/16891824/fig/3.jpg"], "caption": "Histopathological section of bile duct tumor, H&E staining, 400× magnification.", "detailed_caption": "Figure 3 presents a high-power histopathological section of the bile duct tumor stained with hematoxylin and eosin at 400× magnification, demonstrating that the majority of infiltrating cells are myeloid precursors characterized by large round to oval cells with slightly eosinophilic cytoplasm and round to oval vesicular nuclei, admixed with a minor population of more mature myeloid forms including eosinophils.", "modalities": ["pathology"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/16891824/fig/4.jpg"], "caption": "Immunohistochemical staining for myeloperoxidase.", "detailed_caption": "Immunohistochemical stain for myeloperoxidase reveals positive granular cytoplasmic staining of most of the myeloid cells except for the most immature precursors, and the epithelial cells of the bile ducts", "modalities": ["pathology"]}], "diagnosis": "Nonleukemic granulocytic sarcoma", "standardized_diagnosis": [{"original_term": "Nonleukemic granulocytic sarcoma", "corrected_term": null, "code": "2A60.39", "title": "Granulocytic sarcoma", "chapter": "Neoplasms", "primary": true}]}, "year": 2006, "classification": "Neoplastic diseases"}
+{"pmid": "18810315", "patient_info": {"basic_info": "A 46-year-old man with a history of radical extirpated melanoma presented with spontaneous acute severe headache occurring one week prior, followed a few days later by progressive confusion and mild left-sided hemiparesis. The patient did not use any medication but smoked 20 cigarettes and 3-4 times cannabis daily. On admission, his blood pressure was 184/89 mmHg and the following day 154/90 mmHg. Neurological examination revealed confusion with a score of 15 out of 30 on the mini-mental state examination and left-sided hemiparesis with MRC grade 4 strength. Brain MRI showed ischemic lesions bilateral occipital and right parietal. Initial MR angiography showed no abnormality, however on second review the examination was without gadolinium and of poor quality, therefore not reliable. Ancillary laboratory investigations in serum (including blood count, serum electrolytes, liver, renal and thyroid function tests, erythrocyte sedimentation rate, C-reactive protein level, antinuclear and antineutrophil cytoplasmic antibody tests, complement C1q, C3 and C4, lupus anticoagulant, rheumatoid factor) and cerebrospinal fluid showed no abnormalities. Transcranial Doppler ultrasonography examination showed increased intracranial blood flow velocities in the medial cerebral artery (154 cm/s) and anterior cerebral artery (168 cm/s).", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/18810315/fig/1.jpg"], "caption": "Cerebral angiography.", "detailed_caption": "Cerebral angiography showed multiple caliber changes in the intracranial blood vessels", "modalities": ["angiography"]}], "diagnosis": "Reversible cerebral vasoconstriction syndrome (RCVS)", "standardized_diagnosis": [{"original_term": "Reversible cerebral vasoconstriction syndrome", "corrected_term": null, "code": "8B22.2", "title": "Reversible cerebral vasoconstriction syndrome", "chapter": "Diseases of the nervous system", "primary": true}]}, "year": 2008, "classification": "Neurological disorders"}
+{"pmid": "19033077", "patient_info": {"basic_info": "75-year-old right-handed woman presented with a three year history of word-finding difficulties. Her speech showed frequent use of 'thing' in place of specific words and confusion of related words (e.g., 'door' for 'window'). She had difficulties with arithmetic, writing, spelling, and speech comprehension for 2 years. No significant memory problems or getting lost. No behavioral symptoms or appetite changes. No family history of dementia. Initial assessment showed fluent aphasia with circumlocutory speech. Single word repetition preserved but sentence repetition impaired. Bilateral limb apraxia present. General neurological examination normal. Neuropsychological assessment revealed severe anomia (only able to produce 'train' on naming task), impaired comprehension (13/50 on British Picture Vocabulary Scale), poor reading (2/50 on National Adult Reading Test), dyscalculia (0/24 on Graded Difficulty Calculation Test), poor spelling, decreased digit span (four digits forwards, unable to repeat two digits backwards), and executive dysfunction.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/19033077/fig/1.jpg"], "caption": "(A) Coronal T1-weighted MRI of the brain through frontal, mid-temporal, posterior temporo-parietal, and posterior parietal regions, performed 5 years after symptom onset; sagittal MRI of the left temporo-parietal region with voxel-compression-mapping overlay, showing changes from 3.5 to 5 years after symptom onset.", "detailed_caption": "Coronal T1-weighted MR images (with left hemisphere shown on the right of the images) through the frontal, mid-temporal, posterior temporo-parietal and posterior parietal\nregions and a sagittal MR image through the left temporo-parietal region with a voxel-compression-mapping overlay to show the progression of regional atrophy (degree of volume\nloss and expansion coded in the colour scale: red represents 20% or greater expansion of voxels and blue represents 20% or greater contraction of voxels.): A) — coronal images\n5 years after symptom onset; sagittal image shows change over time period 3.5 to 5 years from symptom onset.", "modalities": ["mri"]}], "diagnosis": "Atypical semantic dementia (SD) with features suggestive of logopenic/phonological aphasia (LPA) variant of primary progressive aphasia, characterized by fluent, empty speech with profound anomia, loss of word meaning, impaired single word comprehension and surface dyslexia, along with early dominant parietal lobe deficits", "standardized_diagnosis": [{"original_term": "Atypical semantic dementia", "corrected_term": null, "code": "6D83", "title": "Semantic dementia", "chapter": "Mental, behavioural or neurodevelopmental disorders", "primary": true}, {"original_term": "Logopenic variant primary progressive aphasia", "corrected_term": null, "code": "6D80.Z", "title": "Non-amnestic Alzheimer’s disease, logopenic variant with primary progressive aphasia", "chapter": "Mental, behavioural or neurodevelopmental disorders", "primary": false}, {"original_term": "Surface dyslexia", "corrected_term": null, "code": "MB4B.0", "title": "Dyslexia", "chapter": "Symptoms, signs or clinical findings, not elsewhere classified", "primary": false}, {"original_term": "Dominant parietal lobe deficit", "corrected_term": null, "code": "NA07.Y", "title": "Parietal lobe injury", "chapter": "Injury, poisoning or certain other consequences of external causes", "primary": false}]}, "year": 2009, "classification": "Neurological disorders"}
+{"pmid": "17277569", "patient_info": {"basic_info": "10-month-old male admitted with fever. Born at 38 weeks gestation after unremarkable pregnancy, birth weight 2,960g. History of cephalhematoma over parietooccipital region at birth, bilateral inguinal hernia repair at 2 months, recurrent pneumonia and urinary tract infection. Growth parameters below 3rd percentile (weight: 7,500g, length: 73.7cm). Physical exam showed pale skin, sparse/light/curly hair with pili torti on microscopy. Neurologic exam revealed diffuse hypotonia with poor head/trunk support, no visual fixing/following, hyperreflexic deep tendon reflexes bilaterally with ankle clonus, bilateral Babinski extension. Lab results: serum copper 27 μg/dL (normal 70-130), ceruloplasmin 9.07 μg/dL (normal 20-60).", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/17277569/fig/1.jpg"], "caption": "(A) Brain MRI at 10 months, T2-weighted imaging. (B,C) Brain MRI at 10 months, diffusion-weighted imaging and ADC map. (D) Brain MR angiography at 10 months.", "detailed_caption": "Initial MRI at 10 months showed: (A) T2-weighted imaging revealed symmetric hyperintense lesions in deep periventricular white matter, mild atrophy of cerebellum and brainstem without prominent cerebral hemisphere atrophy; (B,C) Diffusion-weighted imaging showed high signal intensity with decreased ADC; (D) MR angiography demonstrated markedly tortuous intracranial and extracranial vessels", "modalities": ["mri", "angiography"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/17277569/fig/2.jpg"], "caption": "(A,B) MRI at 13 months, white matter and corpus callosum. (C,D) MRI at 13 months, diffusion-weighted imaging (DWI) and apparent diffusion coefficient (ADC), white matter.", "detailed_caption": "Follow-up MRI at 13 months showed: (A,B) Marked progression of white matter lesions extending to deep white matter and corpus callosum; (C,D) Extended lesions showing high signal intensity on DWI with decreased ADC", "modalities": ["mri"]}], "diagnosis": "Menkes disease", "standardized_diagnosis": [{"original_term": "Menkes disease", "corrected_term": null, "code": "5C64.0Y", "title": "Menkes disease", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": true}]}, "year": 2007, "classification": "Endocrine and metabolic disorders"}
+{"pmid": "18253082", "patient_info": {"basic_info": "37-year-old woman presented with a 3-month history of exertional dyspnea, cough and one recent episode of hemoptysis. At admission, she showed no hypertension or systemic symptoms.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/18253082/fig/1.jpg"], "caption": "Chest radiograph.", "detailed_caption": "Chest radiograph showed a left hilar mass with a lobulated margin", "modalities": ["x-ray"]}, {"type": "fig", "id": 1, "subfig": "B, C", "path": ["images/18253082/fig/2.jpg"], "caption": "CT, contrast-enhanced, axial view.", "detailed_caption": "Contrast-enhanced CT axial images showed a left hilar mass with an endobronchial protrusion extending along the bronchial lumen, with mild homogeneous enhancement", "modalities": ["ct"]}, {"type": "fig", "id": 1, "subfig": "D", "path": ["images/18253082/fig/3.jpg"], "caption": "CT of the left lung, lung window, axial view.", "detailed_caption": "D: The lung window axial CT image demonstrates localized emphysema distal to the endobronchial lesion in the left lung.", "modalities": ["ct"]}, {"type": "fig", "id": 1, "subfig": "E", "path": ["images/18253082/fig/4.jpg"], "caption": "Bronchoscopy of the lingular segmental bronchus.", "detailed_caption": "E: Bronchoscopy reveals a hypervascular bulging mass with a lobulated surface located in the lingular segmental bronchus.", "modalities": []}, {"type": "fig", "id": 1, "subfig": "G", "path": ["images/18253082/fig/5.jpg"], "caption": "Histopathology with immunohistochemical staining for chromogranin.", "detailed_caption": "Histopathology showed tumor consisting of nests of epitheloid cells in an organoid/alveolar pattern, surrounded by vascular reticulin network ('zellballen' pattern). Cells showed marked nuclear pleomorphism and up to 1-2 mitotic figures/10 high power fields. Microscopic necrotic foci present. Immunohistochemical staining for chromogranin was strongly positive.", "modalities": ["pathology"]}], "diagnosis": "Primary pulmonary paraganglioma with malignant potential", "standardized_diagnosis": [{"original_term": "Primary pulmonary paraganglioma", "corrected_term": null, "code": "2D12.Y", "title": "paraganglioma NOS", "chapter": "Neoplasms", "primary": true}]}, "year": 2008, "classification": "Neoplastic diseases"}
+{"pmid": "18385565", "patient_info": {"basic_info": "A 66-year-old man without smoking history presented with a one-month history of progressively worsening cough and dyspnea along with febrile symptoms. He had been previously healthy until diagnosed with gastroesophageal reflux disease (GERD) a month prior and began treatment with lansoprazole. He had a history of working at a dusty place several weeks before hospitalization but did not experience any respiratory symptoms at that time. The symptoms developed a few days after initiation of lansoprazole treatment. On examination, vital signs were stable and laboratory studies including eosinophil count were all within normal ranges.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/18385565/fig/1.jpg"], "caption": "Posteroanterior chest radiograph of the lungs.", "detailed_caption": "Posteroanterior chest radiograph shows diffuse ground-glass opacities in both lungs, which are predominant in upper lung zones.", "modalities": ["x-ray"]}, {"type": "fig", "id": 1, "subfig": "B, C", "path": ["images/18385565/fig/2.jpg"], "caption": "(B) High-resolution CT, axial view, lungs. (C) High-resolution CT, coronal view, lungs.", "detailed_caption": "Axial (B) and coronal (C) reconstruction high-resolution CT images show areas of diffuse ground-glass opacity in both lungs with upper lung predominance.", "modalities": ["ct"]}, {"type": "fig", "id": 1, "subfig": "D", "path": ["images/18385565/fig/3.jpg"], "caption": "Lung histopathological specimen.", "detailed_caption": "Histopathological specimen shows mixed interstitial infiltration of lymphocytes and plasma cells, suggestive of nonspecific interstitial pneumonia pattern. Note active hyperplasia of type II pneumocytes (arrows) and Massons’ body (arrowheads).", "modalities": ["pathology"]}], "diagnosis": "Lansoprazole-induced interstitial lung disease", "standardized_diagnosis": [{"original_term": "Interstitial lung disease", "corrected_term": null, "code": "CB0Z", "title": "interstitial lung disease NOS", "chapter": "Diseases of the respiratory system", "primary": true}]}, "year": 2008, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "18071286", "patient_info": {"basic_info": "A previously well 34-year-old man presented with generalized tonic-clonic seizure and transient right side weakness. He also had recurrent hemoptysis of one month's duration. Physical examination findings included normal kidney size, shape and echogenicity on renal ultrasound. Laboratory results showed hemoglobin level of 10.5 g/dL, white blood cell count of 6.3 × 10³/mm³, normal complement levels, normal serum creatine level (1.04 mg/ml, normal range: 0.6-1.2 mg/ml), and urinalysis showing no protein but a few old form RBCs. The patient was anti-GBM antibody negative, with no anti-neutrophil cytoplasmic antibodies (ANCA), double-stranded DNA or anti-smooth muscle antibody. Bacterial cultures obtained during bronchoscopy and virus serology were negative. Echocardiography was negative. An immunofluorescence study revealed a large amount of total linear and granular IgG deposits in the lung and renal tissues. Other possible causes such as septicemia, thrombogenic hematologic disorder, cardiogenic embolism and bacterial endocarditis were excluded.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/18071286/fig/1.jpg"], "caption": "CT of the lungs.", "detailed_caption": "Lung CT showing multifocal ground-glass opacities in both lungs, consistent with diffuse alveolar hemorrhage.", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": "A-C", "path": ["images/18071286/fig/2.jpg"], "caption": "Brain MRI, T2-weighted sequence, axial view.", "detailed_caption": "Brain MR T2-weighted axial images showing multiple small nodular, high signal intensities in the bilateral cerebellar hemispheres, right frontal and left parietal cortices.", "modalities": ["mri"]}, {"type": "fig", "id": 2, "subfig": "D-F", "path": ["images/18071286/fig/3.jpg"], "caption": "MRI, T1-weighted, axial view, contrast enhanced.", "detailed_caption": "Contrast enhanced T1-weighted axial images showing leptomeningeal enhancement along both parasagittal regions and cerebellar hemispheres, consistent with multiple small vascular infarcts.", "modalities": ["mri"]}], "diagnosis": "CNS vasculitis associated with Goodpasture's syndrome", "standardized_diagnosis": [{"original_term": "CNS vasculitis", "corrected_term": null, "code": "8B22.2", "title": "CNS pseudovasculitis", "chapter": "Diseases of the nervous system", "primary": true}, {"original_term": "Goodpasture's syndrome", "corrected_term": null, "code": "MF85", "title": "Goodpasture syndrome", "chapter": "Diseases of the respiratory system", "primary": false}]}, "year": 2007, "classification": "Infectious and immunologic disorders"}
+{"pmid": "19654967", "patient_info": {"basic_info": "A 26-year-old man presented with a firm, nontender palpable lymph node in his left cervical area. The patient had no specific past medical history. On admission, his vital signs were stable with blood pressure 120/80 mmHg, pulse rate 80/min, respiratory rate 24/min, and body temperature 36.5°C. Routine laboratory investigations showed a normal complete blood count, serum chemical tests, and erythrocyte sedimentation rate (ESR). Serologic tests for cytomegalovirus, human immunodeficiency virus (HIV) and polymerase chain reaction (PCR) analysis of mycobacteria yielded negative results. Serum immunoglobulin levels were within normal ranges: IgG 1,680 mg/dL (normal 700-1,700 mg/dL), IgA 117 mg/dL (normal 70-400 mg/dL), IgM 129 mg/dL (normal 40-230 mg/dL), and IgE 33.8 IU/mL (normal 0-100 IU/mL). The patient had no history of fever during the clinical course.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/19654967/fig/1.jpg"], "caption": "CT of the chest.", "detailed_caption": "Chest CT revealed pleural effusion and mediastinal lymphadenopathies with calcification.", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/19654967/fig/2.jpg"], "caption": "H&E staining of cervical lymph node excisional biopsy, 400× magnification.", "detailed_caption": "Figure 2 presents a high-power hematoxylin and eosin (H&E) stained histopathological section (magnification ×400) from an excisional biopsy of the cervical lymph node, demonstrating dilated sinuses filled with histiocytes possessing abundant pale eosinophilic cytoplasm, as indicated by arrows.", "modalities": ["pathology"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/19654967/fig/3.jpg"], "caption": "(A) Immunohistochemical staining for CD68, 400× magnification. (B) Immunohistochemical staining for S-100, 400× magnification.", "detailed_caption": "Immunohistochemical staining for CD68 and S-100 protein. Histiocytes show positive immunoreactivity with brown color for CD 68 (A, ×400) and S-100 (B, ×400).", "modalities": ["pathology"]}], "diagnosis": "Sinus histiocytosis with massive lymphadenopathy (SHML)", "standardized_diagnosis": [{"original_term": "Sinus histiocytosis with massive lymphadenopathy", "corrected_term": null, "code": "EK92", "title": "Sinus histiocytosis with massive lymphadenopathy", "chapter": "Diseases of the skin", "primary": true}]}, "year": 2009, "classification": "Neoplastic diseases"}
+{"pmid": "19182510", "patient_info": {"basic_info": "A 49-year-old nonsmoking female with acute myeloid leukemia (AML) had been treated with one course of induction chemotherapy using daunorubicin and cytosine arabinoside. After AML relapse, she received a second course consisting of 10 mg/m² IV mitoxantrone daily for six days and 3 g/m² IV ARA-C daily for six days. On day six after completion of chemotherapy, she developed flu-like symptoms including fever and cough. Physical examination revealed elevated temperature (38.5°C), tachypnea, and diffuse bilateral inspiratory crackles on chest auscultation. Despite empirical antibiotic therapy, fever and cough persisted over the following days.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/19182510/fig/1.jpg"], "caption": "Chest radiograph, posteroanterior view.", "detailed_caption": "Posteroanterior chest radiograph showing diffuse nodular opacities scattered throughout both lungs", "modalities": ["x-ray"]}, {"type": "fig", "id": 1, "subfig": "B, C", "path": ["images/19182510/fig/2.jpg"], "caption": "(B) CT of the lung, axial view. (C) CT of the lung, coronal view.", "detailed_caption": "Axial CT (B) and reformatted coronal (C) images of lung show numerous 1-mm to 5-mm nodules (arrow) in diffuse distribution and along bronchovascular structure. Patchy infiltration is present in left lower lobe.", "modalities": ["ct"]}, {"type": "fig", "id": 1, "subfig": "D, E", "path": ["images/19182510/fig/3.jpg"], "caption": "(D) Lung biopsy, Hematoxylin & Eosin staining, 200× magnification. (E) Lung biopsy, Hematoxylin & Eosin staining, 40× magnification.", "detailed_caption": "Pathological examination of lung biopsy specimen (D) (Hematoxylin & Eosin staining, ×200) shows aggregates of fibrous plugs within small airways and alveoli around interstitial inflammation, consistent with cryptogenic organizing pneumonia. (E) Parenchymal nodules show localized areas of organizing pneumonia (open arrow) surrounding bronchiolitis obliterans (black arrow) that are separated from other involved areas by zone of relative normal parenchyma (Hematoxylin & Eosin staining, ×40). ", "modalities": ["pathology"]}], "diagnosis": "Cryptogenic organizing pneumonia (COP)", "standardized_diagnosis": [{"original_term": "Cryptogenic organizing pneumonia", "corrected_term": null, "code": "CA40.Z", "title": "Pneumonia", "chapter": "Diseases of the respiratory system", "primary": true}]}, "year": 2009, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "16042772", "patient_info": {"basic_info": "A 41-year-old female with neurofibromatosis type I presented with a 3-year history of recurrent epigastric soreness, heartburn, and diarrhea. Repeated end recurrent duodenal ulcers that improved with proton-pump inhibitors but recurred when medication was withdrawn. She had been previously diagnosed with NF1 based on clinical features and family history, with first-degree relatives also affected. Physical examination revealed several café-au-lait spots and multiple small nodules on the anterior chest and areolar area, plus multiple axillary freckles. Upper gastrointestinal endoscopy revealed multiple shallow ulcers in the descending duodenum. Both rapid urease test and urea breath test for Helicobacter pylori were negative. The serum fasting gastrin level was >1,000 pg/mL and 837 pg/mL in two consecutive measurements. Evaluation for MEN1 association through hormonal and radiologic investigations of the parathyroid, pituitary, pancreas, and adrenal gland proved negative.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/16042772/fig/1.jpg"], "caption": "CT of the abdomen.", "detailed_caption": "Abdominal CT scan showing a 3×2 cm, well-defined, uniformly enhanced mass adjacent to the duodenal loop", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/16042772/fig/2.jpg"], "caption": "Histopathology of solid mass, H&E staining, 40× magnification.", "detailed_caption": "The pathologic findings were of a well-encapsulated solid mass containing cells with a diffuse, trabecular growth pattern. (×40, H&E).", "modalities": ["pathology"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/16042772/fig/3.jpg"], "caption": "Immunohistochemical staining for gastrin, avidin-biotin-peroxidase method, 250× magnification.", "detailed_caption": "The tumor cells were strongly immunopositive for gastrin. (×250, avidin-biotin-peroxidase).", "modalities": ["pathology"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/16042772/fig/4.jpg"], "caption": "Biopsy specimen, H&E staining, 100× magnification.", "detailed_caption": "Biopsy of the multiple small nodules revealed the haphazard arrangement of uniform spindle cells in a collagenous stroma. (×100, H &E).", "modalities": ["pathology"]}, {"type": "fig", "id": 5, "subfig": null, "path": ["images/16042772/fig/5.jpg"], "caption": "Liver tissue section, H&E staining, 100× magnification.", "detailed_caption": "The tumor cells were immunopositive for C-kit (CD117). (× 100, H &E).", "modalities": ["pathology"]}], "diagnosis": "Zollinger-Ellison syndrome associated with neurofibromatosis type I; gastrinoma confirmed by immunohistochemical staining", "standardized_diagnosis": [{"original_term": "Zollinger-Ellison syndrome", "corrected_term": null, "code": "5A43.1", "title": "Zollinger-Ellison syndrome", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": true}, {"original_term": "Neurofibromatosis type I", "corrected_term": null, "code": "LD2D.1Z", "title": "Neurofibromatosis, unspecified", "chapter": "Developmental anomalies", "primary": false}, {"original_term": "Gastrinoma", "corrected_term": null, "code": "2C10.1", "title": "Gastrinoma", "chapter": "Neoplasms", "primary": false}]}, "year": 2005, "classification": "Endocrine and metabolic disorders"}
+{"pmid": "17728518", "patient_info": {"basic_info": "A 62-year-old woman with known neurofibromatosis type 1 (NF-1) presented to the Emergency Department with a painful and suddenly enlarging mass on the left back area. She had no family history of NF-1 but had a medical history of operation and skin graft of a large hematoma on the right back area 30 years prior, with biopsy findings indicative of neurofibroma. On initial physical examination, her vital signs were blood pressure 160/90 mmHg, heart rate 120 beats/min, respiratory rate 20 breaths/min, and axillary temperature 36.5°C. Physical examination revealed a soft mass with tenderness on palpation on the left back area. The mass was scarlet-colored, non-pulsating, and had a well-demarcated border. Multiple areas of hyperpigmentation (café-au-lait spots) were present on her torso and extremities, and axillary frecklings were also noted. During the next 3 hours, the mass expanded and she became hemodynamically unstable with blood pressure 73/50 mmHg and heart rate 100 beats/min, with hemoglobin falling from 12.4 g/dL to 8.1 g/dL.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/17728518/fig/1.jpg"], "caption": "CT of the abdomen and pelvis.", "detailed_caption": "Abdomen and pelvis CT showing a huge, subcutaneous, 13×7.6 cm-sized hematoma, along with fluid collection in the posterior and left lateral subcutaneous layer of the thoracolumbar and left lower back area", "modalities": ["ct"]}], "diagnosis": "Neurofibromatosis type 1 with recurrent, massive, subcutaneous hemorrhage on the back region combined with hypovolemic shock; diffuse neurofibroma", "standardized_diagnosis": [{"original_term": "Neurofibromatosis type 1", "corrected_term": null, "code": "LD2D.10", "title": "Neurofibromatosis type 1", "chapter": "Developmental anomalies", "primary": true}, {"original_term": "Subcutaneous hemorrhage", "corrected_term": null, "code": "ME64.3", "title": "subcutaneous haemorrhage", "chapter": "Diseases of the skin", "primary": false}, {"original_term": "Hypovolemic shock", "corrected_term": null, "code": "MG40.1", "title": "Hypovolaemic shock", "chapter": "Symptoms, signs or clinical findings, not elsewhere classified", "primary": false}, {"original_term": "Diffuse neurofibroma", "corrected_term": null, "code": "2F3Y", "title": "Neurofibroma", "chapter": "Neoplasms", "primary": false}]}, "year": 2007, "classification": "Genetic and congenital disorders"}
+{"pmid": "19795006", "patient_info": {"basic_info": "A 66-year-old man was admitted because of dysphagia with repeated aspirations in March 2007. His illness began around 2000 with several episodes of falling while riding a motorcycle that were not associated with dizziness or faintness and were independent of specific situation or body position. In October 2003, he was evaluated for blurred vision, dislike of bright lights, and easy falls. He had undergone bilateral lens implantation in 2000 for bilateral cataracts and presbyopia but did not benefit from the surgery. His symptoms progressively worsened with imbalance and unsteadiness when walking. Pupils were irregularly shaped with sluggish bilateral direct light reflexes. Vertical ocular movements for willed gaze and following objects were slow and limited, though full ocular movements were elicited during passive head motions. Volitional horizontal gaze and pursuit were slow with bilateral adduction paresis, but convergence was normal. He was slow and made errors when performing distal rapid alternating movements and tended to topple backwards. There was no resting or action tremor initially. His condition continued to deteriorate with frequent falls requiring a cane, retracted head, slurred voice, inability to look down, and swallowing difficulties. By March 2007 admission, his eyes deviated up and lateral with absent vertical and medial eye movements. When attempting lateral gaze, only brisk quick lateral movements occurred on the same side with no medial movement of the opposite eye. He could not converge his eyes, had no Bell's phenomenon or optokinetic nystagmus, and caloric stimulations with warm and cold water did not evoke nystagmus bilaterally. Doll's eye maneuver evoked no eyeball movements. He had severe nuchal rigidity and retrocollis, could not sit independently, repeatedly fell backward without support, and had axial rigidity making distal movements appear ataxic. Reflexes were symmetrical and minimally brisk with bilateral flexor plantar responses and no resting tremor.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/19795006/fig/1.jpg"], "caption": "(A) Clinical photograph in mid-forties. (B) Clinical photograph at age 62. (C) Clinical photograph at age 64. (D) Clinical photograph at age 66. (E) MRI, T2-weighted, midsagittal view of the brain. (F) MRI, T2-weighted, axial view of the brain. (G) MRI, T1-weighted, coronal view of the brain.", "detailed_caption": "Serial photographs showing progressive eyeball deviation from normal binocular vision in mid-forties (A), beginning exodeviation at age 62 (B), more pronounced exodeviation at age 64 (C), to full exodeviation at age 66 (D). MRI images show moderate atrophy of the whole cerebrum and brainstem, as well as mild bihippocampal atrophy with T2-weighted midsagittal and axial images demonstrating midbrain atrophy and T1-weighted coronal images showing bilateral hippocampus and mesial frontal lobe atrophy (E-G).", "modalities": ["clinical", "mri"]}], "diagnosis": "Progressive supranuclear palsy (PSP) with nuclear level involvement causing complete ophthalmoplegia with exodeviation", "standardized_diagnosis": [{"original_term": "Progressive supranuclear palsy", "corrected_term": null, "code": "8A00.10", "title": "Progressive supranuclear palsy", "chapter": "Diseases of the visual system", "primary": true}, {"original_term": "Complete ophthalmoplegia", "corrected_term": null, "code": "9C81.3", "title": "Complete ophthalmoplegia", "chapter": "Diseases of the visual system", "primary": false}, {"original_term": "Exodeviation", "corrected_term": "Divergent strabismus", "code": "9C80.1", "title": "divergent strabismus", "chapter": "Diseases of the visual system", "primary": false}]}, "year": 2009, "classification": "Neurological disorders"}
+{"pmid": "18838860", "patient_info": {"basic_info": "A 63-year-old woman presented with abdominal pain and diarrhea for two weeks. The patient had no personal or family history of pancreatic disease. Physical examination revealed no unusual findings. Laboratory tests showed no elevation of serum amylase and lipase levels, and tumor markers including carbohydrate antigen 19-9 (CA 19-9) were within normal limits.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/18838860/fig/1.jpg"], "caption": "Contrast-enhanced pancreas CT, arterial phase.", "detailed_caption": "Contrast-enhanced pancreas CT scan obtained at arterial phase shows only moderate dilatation of main pancreatic duct (arrow) in tail of pancreas, and there is no evidence of obstructive mass. Atrophy with decreased enhancement of pancreatic tail is due to chronic pancreatitis.", "modalities": ["ct"]}, {"type": "fig", "id": 1, "subfig": "B, C", "path": ["images/18838860/fig/2.jpg"], "caption": "(B) Pancreas MRI, T2-weighted sequence. (C) Pancreas MRI, gadolinium-enhanced sequence.", "detailed_caption": "T2-weighted (B) and gadolinium-enhanced (C) pancreas MR images show enhancing intraductal mass (short arrows) of main pancreatic duct in pancreatic body with dilatation of upstream main pancreatic duct (long arrow).", "modalities": ["mri"]}, {"type": "fig", "id": 1, "subfig": "D", "path": ["images/18838860/fig/3.jpg"], "caption": "MR cholangiopancreatography, pancreas.", "detailed_caption": "MR cholangiopancretography shows filling defect (short arrows) that is due to intraductal mass with dilatation of upstream main pancreatic duct (long arrow) and there is no dilatation of downstream main pancreatic duct.", "modalities": ["mri"]}, {"type": "fig", "id": 1, "subfig": "E", "path": ["images/18838860/fig/4.jpg"], "caption": "Endoscopic retrograde pancreatogram of the pancreatic body.", "detailed_caption": "Endoscopic retrograde pancreatogram shows filling defect (arrows) of contrast media that is due to mass in main pancreatic duct in pancreatic body.", "modalities": ["endoscopy"]}, {"type": "fig", "id": 1, "subfig": "F", "path": ["images/18838860/fig/5.jpg"], "caption": "Photograph of resected specimen of pancreas.", "detailed_caption": "Photograph of resected specimen shows mass (arrow) in dilated main pancreatic duct.", "modalities": ["pathology"]}], "diagnosis": "T1N0M0 stage intraductal tubular carcinoma (ITC)", "standardized_diagnosis": [{"original_term": "Intraductal tubular carcinoma", "corrected_term": null, "code": "2E65.2", "title": "intraductal carcinoma of unspecified site", "chapter": "Neoplasms", "primary": true}]}, "year": 2008, "classification": "Neoplastic diseases"}
+{"pmid": "18303215", "patient_info": {"basic_info": "A previously healthy 33-month-old girl presented with a 10-day history of high fever, sore throat, and non-productive cough, followed by worsening lower respiratory tract symptoms including severe cough, acute onset hematochezia, and numerous ecchymoses. She had no prior illness or family history of bleeding problems. On admission, she appeared febrile with diminished breath sounds and rales over the left lower lung field, multiple ecchymotic skin lesions over the upper and lower extremities, but no evidence of hemarthroses, soft tissue hematomas, hepatosplenomegaly, or sensorimotor deficits. Her cardiac examination was unremarkable. Initial laboratory studies showed normal red and white blood cell counts, normal liver and renal function studies, normal urinalysis, negative Widal test, and normal anti-streptolysin O titer. Fecal occult blood testing was positive but no stool leukocytes were present. Latex agglutination test for rotavirus was negative. C-reactive protein was elevated at 8.3 mg/L. IgM antibody titer to M. pneumoniae was 1:1,280 on admission day. Coagulation studies revealed normal prothrombin time of 12.7 sec but prolonged activated partial thromboplastin time of 94.0 sec. Plasma mixing studies failed to correct the aPTT (77.3 sec). The patient had normal bleeding time, FVIII activity of 3%, factor IX activity of 61%, von Willebrand factor antigen of 146.2%, ristocetin cofactor activity of 110.1%, and FVIII inhibitor of 2.5 Bethesda Units/mL. Additional tests showed no evidence of disseminated intravascular coagulopathy with normal fibrinogen, fibrin degradation products, and anti-thrombin 3 levels. Tests for anti-nuclear, anti-phospholipid, lupus anticoagulant, and anti-smooth muscle cell antibodies were all negative.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/18303215/fig/1.jpg"], "caption": "PCR testing of oropharyngeal swab collected on 4th hospital day.", "detailed_caption": "PCR testing of oropharyngeal swab collected on 4th hospital day was positive for M. pneumoniae DNA amplification", "modalities": ["lab"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/18303215/fig/2.jpg"], "caption": "Chest radiograph on admission.", "detailed_caption": "Chest radiograph on admission shows consolidation in left lower lung field and blunting of the costophrenic angle", "modalities": ["x-ray"]}], "diagnosis": "Transient acquired hemophilia associated with Mycoplasma pneumoniae pneumonia", "standardized_diagnosis": [{"original_term": "Transient acquired hemophilia", "corrected_term": null, "code": "3B22", "title": "Acquired haemophilia", "chapter": "Diseases of the blood or blood-forming organs", "primary": true}, {"original_term": "Mycoplasma pneumoniae pneumonia", "corrected_term": null, "code": "CA40.04", "title": "Pneumonia due to Mycoplasma pneumoniae", "chapter": "Diseases of the respiratory system", "primary": false}]}, "year": 2008, "classification": "Infectious and immunologic disorders"}
+{"pmid": "19543522", "patient_info": {"basic_info": "A 52-year-old man with no prior medical history presented with a 3-month history of fever and progressive fatigue. On physical examination, he appeared chronically ill but alert, with vital signs showing blood pressure 100/70 mmHg, pulse rate 102 bpm, respiratory rate 22 bpm, and body temperature 38.5°C. Examination revealed no abnormalities in head, neck, or chest, no hepatosplenomegaly or abdominal mass, and no evidence of lymphadenopathy or abnormal skin lesions. Laboratory findings showed hemoglobin 10.4 g/dL, hematocrit 30.0%, white blood cell count 5,000/μL, platelet count 104,000/μL, sodium level 126 mM/L (low), elevated β₂-microglobulin 4.7 μg/mL, elevated LDH 476 IU/L, low serum cortisol 2.9 μg/dL at 8 AM, elevated plasma ACTH 210 pg/mL at 8 AM, and normal aldosterone 56.2 pg/mL. Urinalysis showed slightly elevated epinephrine 21.5 μg/day and norepinephrine 202.1 μg/day, while vanillylmandelic acid and total metanephrine were normal. Rapid cosyntropin stimulation test demonstrated inadequate cortisol response (9.5, 10.0, 10.5 μg/dL at 0, 30, 60 minutes respectively), strongly suggesting adrenal insufficiency. Chest radiography was normal without hilar lymphadenopathy. Bone marrow biopsy was negative for lymphomatous involvement.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/19543522/fig/1.jpg"], "caption": "CT scan of the abdomen and pelvis, bilateral adrenal masses, right adrenal gland 5.8 × 2.7 cm, left adrenal gland 3.7 × 2.0 cm.", "detailed_caption": "Abdominal pelvic CT scan showing bilateral adrenal masses, with the right adrenal gland measuring 5.8 × 2.7 cm and the left adrenal gland measuring 3.7 × 2.0 cm in greatest dimension.", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/19543522/fig/2.jpg"], "caption": "F-18 FDG PET scan of the adrenal glands.", "detailed_caption": "F-18 fluorodeoxyglucose (FDG) positron emission tomography (PET) scan showing intense FDG accumulation in both adrenal glands. There was no abnormal FDG uptake in the rest of the body.", "modalities": ["pet/spect/nuclear"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/19543522/fig/3.jpg"], "caption": "CT-guided core needle biopsy of the left adrenal mass, immunohistochemistry positive for CD20, negative for CD3 and CD30, Ki-67=90%.", "detailed_caption": "CT-guided core needle biopsy of the left adrenal mass showing a tumor comprised of large cells, immunohistochemically positive for CD20 but negative for CD3 and CD30. The Ki-67 labeling index was about 90%. The tumor was diagnosed as a diffuse large B-cell lymphoma.", "modalities": ["ct", "pathology"]}], "diagnosis": "Primary bilateral adrenal diffuse large B-cell lymphoma", "standardized_diagnosis": [{"original_term": "Primary bilateral adrenal diffuse large B-cell lymphoma", "corrected_term": null, "code": "2A81.Z", "title": "Diffuse large B-cell lymphomas", "chapter": "Neoplasms", "primary": true}]}, "year": 2009, "classification": "Neoplastic diseases"}
+{"pmid": "19672405", "patient_info": {"basic_info": "A healthy 20-year-old male nonsmoker began working at a beryllium production plant on 12 March 1979. After working in ceramics and alloy fabrication departments, he was transferred on 31 December 1979 to the metal production department to operate the reduction furnace. On 12 January 1980, he presented with a new rash on both forearms and was seen multiple times over the next month for this rash. On 29 March 1980, he complained of shortness of breath, chest pain, and nonproductive cough that had begun several weeks earlier, with a 2.7 kg weight loss over the preceding month. Physical examination on 1 April 1980 revealed scattered rales on chest examination. Following work restriction and a period away from work, symptoms improved, but when he returned to work on 28 April 1980 in the same department, he developed recurrent symptoms including rash and skin ulcers on the wrist and hand in July and August, followed by productive cough and progressive weight loss of 7.7 kg by October 1980, along with exertional dyspnea.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/19672405/fig/1.jpg"], "caption": "Chest radiograph performed on 2 March 1979.", "detailed_caption": "Preemployment chest radiograph taken on 2 March 1979 showing normal lung fields", "modalities": ["x-ray"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/19672405/fig/2.jpg"], "caption": "Chest radiograph performed on 17 March 1981.", "detailed_caption": "Chest radiograph taken during the second episode of acute work-related illness on 17 March 1981 showing a mild diffuse nodular infiltrate", "modalities": ["x-ray"]}, {"type": "fig", "id": 2, "subfig": "A", "path": ["images/19672405/fig/3.jpg"], "caption": "Pulmonary function tests with FVC and DLCO measurements", "detailed_caption": "Preemployment pulmonary function tests were normal with forced vital capacity (FVC) of 6.34 L (120% predicted) and carbon monoxide diffusing capacity (DLCO) of 39.5 mL/min/mmHg (119% predicted). During acute illness on 29 March 1980, substantial decline in FVC to 3.41 L (64% predicted) and decrease in DLCO to 8.9 mL/min/mmHg (27% predicted). FVC reached nadir of 2.84 L (54% predicted) on 4 April 1980. By 11 October 1980, FVC was 4.33 L (83% predicted) with DLCO of 24.8 mL/min/mmHg (78% predicted). On 2 December 1980, further decline in FVC to 3.61 L (68% predicted) and DLCO to 20.0 mL/min/mmHg (62% predicted). By 2 February 1981, FVC had fallen to 2.83 L (52% predicted)", "modalities": []}, {"type": "fig", "id": 2, "subfig": "B", "path": ["images/19672405/fig/4.jpg"], "caption": "TWA airborne beryllium exposures in patient’s departments during this time period", "detailed_caption": "Air sampling data showed that none of the measured beryllium air samples exceeded 100 μg/m³ and most were <10 μg/m³. During a specific exposure event on 2 March 1980, when patient entered the cooling bay twice for 45 minutes total wearing a negative-pressure half-face respirator during heavy fumes, the 8-hour time-weighted average was 5.9 μg/m³", "modalities": []}], "diagnosis": "Acute beryllium disease progressing to chronic beryllium disease", "standardized_diagnosis": [{"original_term": "Acute beryllium disease", "corrected_term": null, "code": "CA60.6", "title": "beryllium disease", "chapter": "Diseases of the respiratory system", "primary": false}, {"original_term": "Chronic beryllium disease", "corrected_term": null, "code": "CA60.6", "title": "beryllium disease", "chapter": "Diseases of the respiratory system", "primary": true}]}, "year": 2009, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "19568469", "patient_info": {"basic_info": "A 41-year-old woman presented with a three-year history of a painless mass in the region of the right parotid gland. Physical examination revealed a non-tender, firm and slightly mobile mass without clear borders that was palpable in the right parotid region. The overlying skin was indurated and warm. Clinical examination of the neck revealed no lymphadenopathy, and facial nerve function was normal on both sides. No evidence of abnormality was found by chest radiograph and abdominal ultrasonography.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/19568469/fig/1.jpg"], "caption": "CT scan, unenhanced, right parotid gland.", "detailed_caption": "Unenhanced CT scan shows 5-cm round mass with lower central density and poorly defined margin in superficial lobe of right parotid gland (white arrow). Also note enlarged lymph nodes (arrowheads).", "modalities": ["ct"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/19568469/fig/2.jpg"], "caption": "Contrast-enhanced CT scan of the head and neck.", "detailed_caption": "Contrast-enhanced CT scan shows peripheral enhancement (white arrow) and irregular central non-enhanced attenuation of mass. Multiple reactive lymph nodes with similar CT features are also demonstrated in subcutaneous fat of right cheek and parapharyngeal spaces (arrowheads).", "modalities": ["ct"]}, {"type": "fig", "id": 1, "subfig": "C", "path": ["images/19568469/fig/3.jpg"], "caption": "Clinical photograph of the gross specimen, right parotid gland, acquired at the time of surgical excision.", "detailed_caption": "C: The gross specimen photograph shows an encapsulated, tan-colored, lobulated solid tumor mass measuring approximately 5.6 × 5.5 × 3 cm, resected from the right parotid gland of a 41-year-old woman, with the tumor (indicated by a straight arrow) surrounded by parotid glandular tissue (curved arrow), as acquired at the time of surgical excision.", "modalities": ["clinical"]}, {"type": "fig", "id": 1, "subfig": "D, E", "path": ["images/19568469/fig/4.jpg"], "caption": "Histology specimen, H&E staining, 200× magnification.", "detailed_caption": "Photomicrograph of histology specimen shows numerous thin-waled vessels surrounded concentricaly by proliferative spindle-shaped to oval-shaped myoid tumor cels in peripheral zone, as wel as hyaline degeneration (E in black asterisks) in central zone (Hematoxylin & Eosin staining, original magnification, ×200).", "modalities": ["pathology"]}, {"type": "fig", "id": 1, "subfig": "F", "path": ["images/19568469/fig/5.jpg"], "caption": "Immunohistochemical staining for smooth muscle actin, CD34, and desmin.", "detailed_caption": "Immunohistochemical staining shows positive reactivity for smooth muscle actin in tumor cells, but negative for CD34 and desmin.", "modalities": ["pathology"]}], "diagnosis": "Benign myopericytoma that arose from the parotid gland", "standardized_diagnosis": [{"original_term": "Benign myopericytoma", "corrected_term": null, "code": "2F3Z", "title": "benign tumour NOS", "chapter": "Neoplasms", "primary": true}]}, "year": 2009, "classification": "Neoplastic diseases"}
+{"pmid": "19788759", "patient_info": {"basic_info": "A 68-year-old Asian woman on haemodialysis presented with a history of high grade fever, diarrhea and nausea. Her symptoms began one day after eating grilled chicken and beef at a restaurant, though she denied abdominal pain, vomiting, or hematochezia. She had diabetes mellitus diagnosed at age 50, had undergone haemodialysis for diabetic nephropathy for the past 2 years with three times weekly sessions, and had an aortic mechanical valve replacement for aortic stenosis 7 months prior to admission. On examination, her temperature was 106°F, blood pressure 150/90 mmHg, heart rate 152/min, and respiratory rate 24/min. Physical examination revealed a Levine IV/VI systolic murmur at the right second intercostal space, slightly hypoactive bowel sounds, but no abdominal tenderness, rebound, or evidence of embolization including Osler node, Janeway lesion, or petechiae.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/19788759/tab/1.jpg"], "caption": "Blood culture on admission.", "detailed_caption": "Blood culture on admission revealed Salmonella enterica serotype Enteritidis (O9, Hg) sensitive to ceftriaxone (MIC ≤1) and ciprofloxacin (MIC ≤0.25), with resistance to cefazolin, amikacin, tobramycin, and gentamicin, but sensitivity to aztreonam, ceftazidime, ampicillin, piperacillin, sulfamethoxazole-trimethoprim, ampicillin sulbactam, meropenem, cefepime, and piperacillin-tazobactam.", "modalities": ["lab"]}, {"type": "fig", "id": 1, "subfig": null, "path": ["images/19788759/fig/2.jpg"], "caption": "Diffusion-weighted MRI of the brain, performed on day 9.", "detailed_caption": "Diffusion-weighted MRI of the brain taken on day 9 showed high intensity areas in the left middle cerebral artery region indicating acute cerebral infarction.", "modalities": ["mri"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/19788759/fig/3.jpg"], "caption": "(A) Transthoracic echocardiogram performed on day 13. (B) Transesophageal echocardiogram performed on day 13.", "detailed_caption": "Transthoracic echocardiogram (A) and transesophageal echocardiogram (B) performed on day 13 revealed vegetation on the mitral valve.", "modalities": ["ultrasound"]}], "diagnosis": "Infective endocarditis caused by Salmonella enteritidis", "standardized_diagnosis": [{"original_term": "Infective endocarditis", "corrected_term": null, "code": "BB40", "title": "infective endocarditis NOS", "chapter": "Diseases of the circulatory system", "primary": true}]}, "year": 2009, "classification": "Infectious and immunologic disorders"}
+{"pmid": "20047692", "patient_info": {"basic_info": "A 25-year-old female in her third trimester of pregnancy presented with paroxysmal headache, palpitations, sweating, and hypertension up to 230/130 for three weeks. Her medical history was negative for previous hypertension, and physical examination was unremarkable. Initial work-up excluded pre-eclampsia. Her urine catecholamines were markedly elevated: Dopamine 607 μg/24 hours (range 65-400), Norepinephrine 978 μg/24 hours (range 15-80), Metanephrine 108 μg/24 hours (range 24-96), Normetanephrine 4067 μg/24 hours (range 75-375), and Vanillyl mandelic acid 13.6 mg/24 hours (range 2-7). Epinephrine level was normal at 0.8 μg/24 hours (range 0.0-20.0). Initial abdominal MRI showed a 28×19 mm left juxta-adrenal mass that was later found to be brown fat.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/20047692/fig/1.jpg"], "caption": "PET-CT scan of the posterior mediastinum near the left atrium, mass size 4.5×2.7×3.9 cm, F18 Levo-DOPA tracer.", "detailed_caption": "PET-CT scan demonstrates a large hypermetabolic soft tissue mass measuring 4.5×2.7×3.9 cm in the region of posterior mediastinum near the left atrium with intense uptake of F18 Levo-DOPA consistent with paraganglioma.", "modalities": ["ct", "pet/spect/nuclear"]}, {"type": "fig", "id": 2, "subfig": "A", "path": ["images/20047692/fig/2.jpg"], "caption": "CMR SSFP cine imaging, horizontal long axis view, posterior mediastinum.", "detailed_caption": "Horizontal long axis CMR SSFP cine imaging shows a round, well-defined hypo-intense soft tissue mass in the posterior mediastinum with smooth extrinsic compression of left atrial wall and no apparent fat plane between the lesion and the posterior wall of the left atrium.", "modalities": ["mri"]}, {"type": "fig", "id": 2, "subfig": "B", "path": ["images/20047692/fig/3.jpg"], "caption": "T2-weighted dark blood turbo spin-echo imaging.", "detailed_caption": "T2-weighted dark blood turbo spin-echo imaging demonstrates the mass shows homogeneously high signal intensity.", "modalities": ["mri"]}, {"type": "fig", "id": 2, "subfig": "C", "path": ["images/20047692/fig/4.jpg"], "caption": "T1-weighted inversion recovery gradient-echo myocardial perfusion imaging.", "detailed_caption": "T1-weighted inversion recovery gradient-echo myocardial perfusion imaging demonstrates heterogeneous, mostly peripheral, dynamic contrast filling of the mass suggesting vascularity.", "modalities": ["mri"]}, {"type": "fig", "id": 2, "subfig": "D", "path": ["images/20047692/fig/5.jpg"], "caption": "(D) Cardiovascular magnetic resonance image, T1-weighted, fat-saturated, inversion recovery sequence, horizontal long axis orientation, late gadolinium enhancement, posterior mediastinum, acquired 10 minutes after intravenous administration of 0.2 mmol/kg gadopentetate dimeglumine.", "detailed_caption": "D: T1-weighted, fat-saturated, inversion recovery late gadolinium enhancement cardiovascular magnetic resonance image obtained in the horizontal long axis orientation shows a round, well-defined posterior mediastinal mass adjacent to the left atrium, demonstrating peripheral rim enhancement without central enhancement, suggestive of central tissue necrosis; the image was acquired 10 minutes after intravenous administration of 0.2 mmol/kg gadopentetate dimeglumine.", "modalities": ["mri"]}], "diagnosis": "Cardiac paraganglioma", "standardized_diagnosis": [{"original_term": "Cardiac paraganglioma", "corrected_term": null, "code": "2D12.Y", "title": "paraganglioma NOS", "chapter": "Neoplasms", "primary": true}]}, "year": 2010, "classification": "Neoplastic diseases"}
+{"pmid": "19721837", "patient_info": {"basic_info": "A 52-year-old Korean man presented with a 1-month history of general weakness that was aggravated three days before his emergency room visit. Initial neurologic examination revealed disorientation of time, place, and person, attention deficit, immediate memory disturbance, dysarthria, weakness of bilateral upper extremities with increased deep tendon reflexes, and right hemiparetic gait. Blood work showed an elevated eosinophil count of 5,500/μL, representing 41% of total white blood cells. The patient's clinical history and basic examinations did not reveal any identifiable cause of hypereosinophilia, including parasitic infection, neoplasm, vasculitis, or allergy. Additionally, the patient had no prior clinical symptoms or signs suggesting Churg-Strauss syndrome, such as sinusitis or asthma. Cardiac enzymes were elevated with creatine kinase-MB at 7.3 ng/ml and troponin-I at 4.78 ng/ml. An echocardiogram revealed mild left ventricular inferior wall hypokinesia.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/19721837/fig/1.jpg"], "caption": "Diffusion-weighted brain MRI.", "detailed_caption": "Diffusion-weighted brain MRI revealed multiple acute infarcts in bilateral border zones as well as randomly distributed cortices.", "modalities": ["mri"]}, {"type": "fig", "id": 1, "subfig": "B, C", "path": ["images/19721837/fig/2.jpg"], "caption": "(B) T2-weighted MRI of the brain. (C) Gradient echo MRI of the brain.", "detailed_caption": "T2-weighted image (B) and gradient echo image (C) reveal focal intracerebral hemorrhaging (arrows) at left frontal white matter.", "modalities": ["mri"]}, {"type": "fig", "id": 1, "subfig": "D", "path": ["images/19721837/fig/3.jpg"], "caption": "Chest CT.", "detailed_caption": "Chest CT revealed multiple nodules in both lungs.", "modalities": ["ct"]}, {"type": "fig", "id": 1, "subfig": "E-H", "path": ["images/19721837/fig/4.jpg"], "caption": "(E) Cerebral MR angiography. (F–H) Digital subtraction angiography.", "detailed_caption": "Cerebral MR angiography (E) and digital subtraction angiography (F-H) shows no evidence of arterial or venous sinus abnormalities.", "modalities": ["mri", "angiography"]}], "diagnosis": "Acute hypereosinophilic syndrome", "standardized_diagnosis": [{"original_term": "Acute hypereosinophilic syndrome", "corrected_term": null, "code": "BC43.20", "title": "Hypereosinophilic syndrome", "chapter": "Diseases of the circulatory system", "primary": true}]}, "year": 2009, "classification": "Infectious and immunologic disorders"}
+{"pmid": "20920200", "patient_info": {"basic_info": "An 80-year-old white man with a medical history of hypertension presented with progressive left-sided weakness and dysphagia. He had begun dragging his left leg at least one month prior to presentation and started using a walker 5 days before admission. The dysphagia initially occurred with fast eating but progressed to occur with regular eating rate. He had lost 35 pounds over the preceding 3 months and experienced monthly falls requiring emergency visits. On physical examination, his vital signs were: blood pressure 158/81 mmHg, respiratory rate 12/min, heart rate 90/min, and temperature 37°C. He appeared cachectic but was alert, awake, and oriented. Speech was fluent with intact comprehension, naming, and repetition. Cranial nerve examination showed mild left facial drooping. He had left hemiparesis with motor strength 4+/5 on the left in upper and lower extremities and 5-/5 on the right. Deep tendon reflexes were hyperactive with no extensor plantar responses. His neurological status progressively worsened during hospitalization, with eventual left-sided weakness of 1/5 in upper extremity and 2/5 in lower extremity, along with decreased sensation on the left side.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/20920200/fig/1.jpg"], "caption": "(A) Head CT without contrast. (B) Head MRI, T1-weighted sequence. (C, D) Head MRI, T2-weighted sequence.", "detailed_caption": "A, computed tomography of the head without contrast. B, T1-weighted magnetic resonance imaging of the head. C and D, T2-weighted magnetic resonance imaging of the head. The arrows indicate the subcortical lesion in the left frontal lobe; the block arrows indicate the lesion in the right posterior limb of the internal capsule and thalamus extending along the corticospinal tract (solid arrow, image D)", "modalities": ["ct", "mri"]}, {"type": "fig", "id": 2, "subfig": "A", "path": ["images/20920200/fig/2.jpg"], "caption": "Brain biopsy, deep white matter, H&E staining.", "detailed_caption": "Brain biopsy revealed infiltrating foamy macrophages and reactive astrocytes on hematoxylin and eosin staining of deep white matter.", "modalities": ["pathology"]}, {"type": "fig", "id": 2, "subfig": "B", "path": ["images/20920200/fig/3.jpg"], "caption": "Brain biopsy, immunohistochemical staining with anti-simian virus 40 antibody.", "detailed_caption": "Brain biopsy showed positive immunohistochemical staining with anti-simian virus 40 antibody which stains polyomavirus in humans.", "modalities": ["pathology"]}], "diagnosis": "Progressive multifocal leukoencephalopathy (PML)", "standardized_diagnosis": [{"original_term": "Progressive multifocal leukoencephalopathy", "corrected_term": null, "code": "8A45.02", "title": "Progressive multifocal leukoencephalopathy", "chapter": "Diseases of the nervous system", "primary": true}]}, "year": 2010, "classification": "Neurological disorders"}
+{"pmid": "19654961", "patient_info": {"basic_info": "A 19-year-old Korean male presented with a history of abnormal gait since the age of 2 years. His symptoms included wide-based waddling gait, proximal muscle weakness, pain in the extremities, and easy fatigability. He had no history of trauma, infection, or systemic illness. Physical examination showed no abnormalities in his reflexes and he was able to walk independently. Other family members, including the proband's father and 2 younger brothers, did not show any symptoms of muscle weakness. Laboratory findings showed normal serum levels of electrolytes, calcium, and phosphate, with mildly elevated serum alkaline phosphatase (139 IU/L; reference range 42-117 IU/L) and slight increase in ESR level (24 mm/hr; reference range 0-15 mm/hr). Muscle biopsy performed at the patient's right vastus lateralis showed no pathologic findings, with no degenerating or regenerating fibers seen and normal immunohistochemical staining for dystrophin along the membranes of the muscle fibers.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/19654961/fig/1.jpg"], "caption": "Genetic analysis, family pedigree.", "detailed_caption": "Family pedigree showing the proband (indicated by arrow) and affected family members in an autosomal dominant inheritance pattern.", "modalities": ["genetic"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/19654961/fig/2.jpg"], "caption": "Radiographs of the femur, tibia, fibula, ulna, radius, humerus, thoracic spine, lumbar spine, knees, and skull.", "detailed_caption": "Radiographs of the proband show cortical, periosteal, and endosteal bony thickening with narrowing of the medullary spaces confined to the diaphyses of the femur, tibia, and fibula, with epiphyses and metaphyses relatively spared. In the upper extremity, the ulna is more severely affected than the radius, and the humerus showed only mild cortical thickening. Some curvature changes were seen in both tibias with genu valgus changes of both knees. Scoliosis of the thoracic and lumbar spines with mild kyphosis of the thoracic spines was observed. No gross bony abnormality was seen in the skull.", "modalities": ["x-ray"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/19654961/fig/3.jpg"], "caption": "(A) Standing AP radiograph of the lower limbs. (B) Scannogram of the right upper limb. (C) Scannogram of the left upper limb. (D) Skull radiograph, right lateral view.", "detailed_caption": "Standing AP radiograph of the lower limbs (A), scannograms of the right (B) and left (C) upper limb, and right lateral view of the skull (D) of the proband. Cortical and periosteal thickenings confined to the diaphyses are seen in all long bones. Gross bony abnormalities were not seen in the skull.", "modalities": ["x-ray"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/19654961/fig/4.jpg"], "caption": "Genetic analysis of exon 4 of the TGFB1 gene.", "detailed_caption": "Direct sequencing of exon 4 of the TGFB1 gene shows a heterozygous G to A transition at cDNA position +653 (R218H) detected in both the proband and his mother.", "modalities": ["genetic"]}], "diagnosis": "Camurati-Engelmann disease (progressive diaphyseal dysplasia) confirmed by TGFB1 gene mutation analysis", "standardized_diagnosis": [{"original_term": "Camurati-Engelmann disease", "corrected_term": null, "code": "LD24.1Y", "title": "Camurati-Engelmann disease", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": true}, {"original_term": "Progressive diaphyseal dysplasia", "corrected_term": null, "code": "LD24.1Y", "title": "Progressive diaphyseal dysplasia", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": false}]}, "year": 2009, "classification": "Orthopedic and connective tissue disorders"}
+{"pmid": "21165302", "patient_info": {"basic_info": "An 8-month-old Korean boy presented at the dermatologic outpatient clinic with skin lesions on his inguinal area and knees that had been present since 7 months of age. His body weight was 8.4 kg (25-50 percentile) and height was 69.2 cm (10-25 percentile), with no evidence of growth delay. He had experienced loose stool 3-4 times per day one month prior to presentation, described as waxing and waning diarrhea with total stool amount less than 10 g/kg/day. He had been breast-fed up to 2 months of age and was being weaned at the time of visit. Despite initial treatment for presumed atopic dermatitis, the skin lesions progressed with accompanying oozing. After a trial of zinc replacement which temporarily improved the lesions, cessation of zinc supplementation led to recurrence and progression to erosion and eczematous changes. His plasma zinc level was markedly decreased at 18.8 μg/dL (normal 66-110 μg/dL). His parents are not consanguineous and have no family history of zinc deficiency.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/21165302/fig/1.jpg"], "caption": "Clinical photographs of knees, feet, perioral, and inguinal areas.", "detailed_caption": "Shows erythematous and desquamated skin lesions around knees, feet, and perioral and inguinal areas in the 8-month-old boy", "modalities": ["clinical"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/21165302/fig/2.jpg"], "caption": "Genetic analysis of the SLC39A4 gene showing compound heterozygous mutations; Family study demonstrating heterozygous carrier status in parents.", "detailed_caption": "Direct sequencing analyses revealed the patient was compound heterozygous for two mutations in SLC39A4: a missense mutation c.283C>T (p.Arg95Cys) and a novel splicing mutation c.1287+2T>C in the donor site of intron 7. Family study showed the parents were heterozygous carriers of each mutation", "modalities": ["genetic"]}], "diagnosis": "Acrodermatitis enteropathica (AE) from congenital zinc deficiency caused by mutations of the SLC39A4 gene", "standardized_diagnosis": [{"original_term": "Acrodermatitis enteropathica", "corrected_term": null, "code": "5C64.20", "title": "Acrodermatitis enteropathica", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": true}, {"original_term": "Congenital zinc deficiency", "corrected_term": null, "code": "5B5K.2", "title": "Zinc deficiency", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": false}]}, "year": 2010, "classification": "Genetic and congenital disorders"}
+{"pmid": "16846490", "patient_info": {"basic_info": "A 17-year-old female with no previous medical history presented to the emergency room with deterioration of her general condition, fever, dyspnea, and paroxysmal severe cough. Two weeks prior to admission, she had acute pharyngitis treated with amoxicillin for 8 days. At initial presentation, she had persistent lateral cervical pain, hyperleukocytosis with a leukocyte count of 13,300/mm³ including 90% neutrophils, and elevated CRP at 450 mg/L. After 48 hours, blood cultures were positive for anaerobic Gram negative bacilli. She subsequently developed pain in both hypochondria, body temperature of 39.7°C, respiratory failure with hypotension, and awareness disorders. Physical examination at ICU admission revealed severe ARDS with PaO₂/FiO₂ ratio of 65 mmHg, bilateral alveolo-interstitial syndrome, and septic shock. Laboratory findings showed CRP of 475 mg/L and procalcitonin of 92 mg/L. The anaerobic Gram negative bacillus was identified as Fusobacterium necrophorum sensitive to penicillin.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/16846490/fig/1.jpg"], "caption": "CT scan of the thorax.", "detailed_caption": "Initial thoracic CT-scan showed voluminous buildup of air and fluid in the left thorax", "modalities": ["ct"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/16846490/fig/2.jpg"], "caption": "Chest X-ray.", "detailed_caption": "Chest X-ray showed left pyopneumothorax", "modalities": ["x-ray"]}, {"type": "fig", "id": 1, "subfig": "C", "path": ["images/16846490/fig/3.jpg"], "caption": "CT of the thorax performed after chest tube placement and under mechanical ventilation.", "detailed_caption": "Thoracic CT-scan after chest tube and under mechanical ventilation revealed large number of small abscesses of the upper and median lobes of the right lung, in addition to the abscess of the lingula and the drained pyopneumothorax", "modalities": ["ct"]}, {"type": "tab", "id": 1, "subfig": null, "path": ["images/16846490/tab/4.jpg"], "caption": "Genetic analysis of TLR5, TF, and PAI-1 genes.", "detailed_caption": "Genotype findings showed functional variations in TLR5 gene (TLR5-R392 heterozygous and TLR5-F616L homozygous mutant), heterozygous TF p603 mutation, and PAI-1 4G-4G homozygous genotype associated with thrombotic events", "modalities": ["genetic"]}], "diagnosis": "Lemierre's syndrome with septic shock, acute respiratory distress syndrome, and partial thrombosis of the left internal jugular vein, caused by Fusobacterium necrophorum", "standardized_diagnosis": [{"original_term": "Lemierre's syndrome", "corrected_term": null, "code": "DA90.0", "title": "THE - [tricho-hepato-enteric] syndrome", "chapter": "Diseases of the digestive system", "primary": true}, {"original_term": "Septic shock", "corrected_term": null, "code": "1G41", "title": "septic shock NOS", "chapter": "Symptoms, signs or clinical findings, not elsewhere classified", "primary": false}, {"original_term": "Acute respiratory distress syndrome", "corrected_term": null, "code": "CB00", "title": "Acute respiratory distress syndrome", "chapter": "Diseases of the respiratory system", "primary": false}, {"original_term": "Partial thrombosis of internal jugular vein", "corrected_term": null, "code": "NA60.30", "title": "incomplete transection of internal jugular vein", "chapter": "Injury, poisoning or certain other consequences of external causes", "primary": false}]}, "year": 2006, "classification": "Infectious and immunologic disorders"}
+{"pmid": "19949684", "patient_info": {"basic_info": "A 20-year-old male patient presented with a past medical history of bleeding tendency during the neonatal period and visited the otorhinolaryngology department for preoperative evaluation for chronic maxillary sinusitis surgery. He reported a family history of easy bruisability in his father and had conductive hearing difficulty following childhood meningitis. No laboratory abnormalities indicating coagulation defects had been detected after birth. In the preoperative evaluation, he had normal blood counts and serum chemistry test results. However, initial coagulation screening revealed prolonged prothrombin time (24.5 sec; normal 10.4-12.5 sec) and activated partial thromboplastin time (47.3 sec; normal 26.0-41.0 sec). The bleeding time was normal (2 min 30 sec; normal 1-5 min). PT and aPTT mixing test results indicated factor deficiency. Plasma fibrinogen activity examined using the Clauss method was lower than the detection limit (<25 mg/dL; normal 140-460 mg/dL), while the antigen level measured by fibrinogen ELISA was normal (437 mg/dL). He had no mutations in the FGA or FGB genes. His parents showed normal plasma fibrinogen activities (309 and 254 mg/dL respectively) and normal coagulation tests, and molecular genetic study confirmed both parents were homozygous for the wild-type allele, indicating a de novo mutation.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/19949684/tab/1.jpg"], "caption": "Laboratory coagulation test results.", "detailed_caption": "Coagulation test results showed FDP <10 μg/mL (normal >40), D-dimer 0.45 μg/mL, plasminogen 130.4% (normal 75-150%), antithrombin 93.4% (normal 75-125%), vWF:Ag >200% (normal 48-151%), vWF:RCo 152% (normal 46-164%), negative anti-factor IX and VIII antibodies, protein C antigen 113% (normal 72-160%), protein C activity 80% (normal 70-130%), protein S antigen (free) 101% (normal 50-150%), and various coagulation factors within or near normal ranges: Factor II 79%, Factor V 63%, Factor VII 90%, Factor VIII 87%, Factor IX 97%, Factor X 88%, Factor XI 108%, Factor XII 58%, and Factor XIII normal.", "modalities": ["lab"]}, {"type": "tab", "id": 2, "subfig": null, "path": ["images/19949684/tab/2.jpg"], "caption": "Laboratory test, fibrinogen mixing test.", "detailed_caption": "Fibrinogen mixing test results showed measured fibrinogen levels consistently lower than expected values across multiple mixing combinations, with control samples showing 250 mg/dL and 233 mg/dL, while patient sample was not checkable (NC), and various mixing combinations yielding significantly lower measured values than expected, suggesting presence of inhibitors.", "modalities": ["lab"]}, {"type": "fig", "id": 1, "subfig": null, "path": ["images/19949684/fig/3.jpg"], "caption": "(A) DNA sequencing chromatogram of FGG. (B) DNA sequencing chromatogram of FGG. (C) DNA sequencing chromatogram of FGG.", "detailed_caption": "DNA sequencing chromatograms of fibrinogen γ-chain gene (FGG) showing the patient (A) with heterozygous FGG mutation c.1007T>C (p.Met336Thr), while father (B) and mother (C) samples showed normal wild-type sequences.", "modalities": ["genetic"]}], "diagnosis": "Congenital dysfibrinogenemia with gamma methionine-310 to threonine substitution (fibrinogen Yecheon)", "standardized_diagnosis": [{"original_term": "Congenital dysfibrinogenemia", "corrected_term": null, "code": "3B14.0", "title": "congenital dysfibrinogenaemia", "chapter": "Diseases of the blood or blood-forming organs", "primary": true}]}, "year": 2009, "classification": "Genetic and congenital disorders"}
+{"pmid": "20052363", "patient_info": {"basic_info": "A 31-year-old woman underwent barium enema examination as part of a medical checkup. She had been healthy without specific complaints and had no significant past medical or family history. The patient was 161 cm in height and weighed 44 kg, appeared well, and the physical examination showed no abnormalities. Complete blood cell count and biochemical analysis of the blood for hepatic and renal function, urine analysis, and fecal occult blood test were all within normal limits. The tumor markers for CEA and CA 19-9 were also normal. No lesions were observed on the upper endoscopy and the abdominal ultrasound.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/20052363/fig/1.jpg"], "caption": "Air contrast barium enema of the colon.", "detailed_caption": "Air contrast barium enema showed multiple thumbprintlike lesions ranging from 7 to 20 mm in diameter from the cecum to the hepatic flexure, mainly in the ascending colon.", "modalities": ["general imaging"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/20052363/fig/2.jpg"], "caption": "(A, B) Endoscopy of the ascending colon.", "detailed_caption": "Endoscopic views of a cluster of elevated lesions, with a smooth surface and gentle slope, in the ascending colon. (A, B) The overlying mucosa was intact and appeared thin, and the lesion was soft and compressible.", "modalities": ["endoscopy"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/20052363/fig/3.jpg"], "caption": "(A,B) Endoscopic ultrasound (EUS) images of the colon obtained with a catheter EUS probe, frequency 12 MHz.", "detailed_caption": " EUS images of the colon, obtained with a catheter EUS probe (frequency 12 MHz). (A) The EUS image depicting elevated lesions as echo-free cysts (arrowheads) in the submucosal layer. (B) Some submucosal cysts had septal walls (arrows).", "modalities": ["ultrasound", "endoscopy"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/20052363/fig/4.jpg"], "caption": "(A) Endoscopic biopsy of the submucosa, H&E staining, 20× magnification; inset: H&E staining, 400× magnification. (B) D2-40 immunostaining of endothelial cells of lymphatic spaces, Polymer method, 200× magnification.", "detailed_caption": "Microscopic findings. (A) Endoscopic biopsy revealed submucosal cyst with occasional multinucleated cells (inset), however, there were no fat or blood cell components (H&E, ×20; inset: H&E, ×400). (B) D2-40 immunostaining showed positive reactivity (arrows) for lining endothelial cells of lymphatic spaces (Polymer method, ×200).", "modalities": ["pathology", "endoscopy"]}], "diagnosis": "Lymphangiomatosis of the colon", "standardized_diagnosis": [{"original_term": "Lymphangiomatosis of the colon", "corrected_term": null, "code": "2E81.10", "title": "diffuse lymphangiomatosis", "chapter": "Neoplasms", "primary": true}]}, "year": 2010, "classification": "Neoplastic diseases"}
+{"pmid": "20371544", "patient_info": {"basic_info": "19-year-old female born full-term to non-consanguineous parents. At birth she was hypotonic with weak breathing and crying. During first month experienced respiratory failure requiring tracheotomy and mechanical ventilation. Had patent ductus arteriosus requiring surgery at age 2. At age 4, nerve stimulation showed 36% decrement of compound muscle action potential area. No repetitive CMAPs after single nerve stimulation. Serum antibodies against AChR and MuSK were negative. Had recurrent respiratory infections and scoliosis surgery at age 12. Recent exam showed normal cognition, bilateral ptosis, mild reduction of upward gaze, facial/bulbar/neck/proximal limb weakness with intact deep tendon reflexes.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/20371544/fig/1.jpg"], "caption": "(A) Electron microscopy of the neuromuscular junction. (B) Electron microscopy of the neuromuscular junction (control).", "detailed_caption": "Ultrastructural findings at the NMJ. (A) An example of a NMJ from the patient demonstrating marked simplification of postsynaptic folds and underdeveloped secondary synaptic clefts (black arrows). In contrast the size of the nerve terminal (asterisk) and the width of the primary synaptic cleft (white arrow) are normal. (B) An example of a NMJ from a control showing normal secondary synaptic clefts (black arrows), nerve terminal (asterisk) and width of the primary synaptic cleft (white arrow). Calibration marks represent 1 mm.", "modalities": []}, {"type": "tab", "id": 1, "subfig": null, "path": ["images/20371544/tab/2.jpg"], "caption": "Microelectrode recordings.", "detailed_caption": "Microelectrode recordings showing: Reduced MEPP amplitude (0.43±0.05 mV vs control 1.24±0.15 mV), reduced MEPC amplitude (1.29±0.05 nA vs control 4.55±0.28 nA), normal MEPC time constant, reduced EPP quantal content at 1Hz (6.79±1.48 vs control 12.71±1.60)", "modalities": ["electrophysiology"]}, {"type": "tab", "id": 2, "subfig": null, "path": ["images/20371544/tab/3.jpg"], "caption": "Table comparing morphometric parameters of neuromuscular junctions between patient and controls.", "detailed_caption": "Table 2, located on page 3 of the document, presents morphometric data comparing the neuromuscular junctions of the patient and controls. The parameters measured include the EI ratio (length of the presynaptic membrane/length of the postsynaptic membrane), the number of secondary clefts per micron of primary cleft length, nerve terminal area (µm²), and the number of synaptic vesicles per µm². The patient's EI ratio is markedly reduced (4.99 ± 0.34, n = 18) compared to controls (11.71 ± 2.36, n = 12), with a statistically significant difference (P < 0.05, Student t-test). The number of secondary clefts per primary cleft length (1.45 ± 0.1, n = 20 vs 1.79 ± 0.14, n = 12), nerve terminal area (7.28 ± 1.06 µm², n = 24 vs 7.34 ± 0.93 µm², n = 12), and synaptic vesicles per area (13.48 ± 4.62, n = 17 vs 16.77 ± 2.77, n = 12) are also reported, although only the EI ratio shows statistical significance, reflecting a marked reduction in postsynaptic membrane complexity in the patient compared to age-matched controls.", "modalities": ["lab"]}], "diagnosis": "Severe congenital myasthenic syndrome (CMS) caused by two missense mutations (M605I and A727V) in the gene encoding the muscle specific receptor tyrosine kinase (MUSK)", "standardized_diagnosis": [{"original_term": "Congenital myasthenic syndrome", "corrected_term": null, "code": "8C61", "title": "Congenital myasthenic syndromes", "chapter": "Diseases of the nervous system", "primary": true}]}, "year": 2010, "classification": "Neurological disorders"}
+{"pmid": "21218045", "patient_info": {"basic_info": "32-month-old Korean boy presented with irritability and fever. Born at 40 weeks gestation with 2.9kg birth weight via normal vaginal delivery to a healthy 28-year-old G3P2 mother. Had flexion deformity of both middle fingers at birth. Showed mild general hypotonia in early infancy with weak cry and poor sucking. History of epileptic seizures 6 times since age 15 months. Developmental delay: raised head at 7 months, sat at 26 months, not yet standing. Physical exam showed prognathism, low-set ears, small crashed nose, widely spaced incisors, round back. Demonstrated repeated stereotyped behavior like hitting chin with palm. Neurologic exam showed decreased muscle tone (grade IV/IV bilaterally) but normal deep tendon reflexes, no spasticity or pathologic reflexes, normal sensory function, and no meningeal signs.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/21218045/fig/1.jpg"], "caption": "(A) Clinical photograph of the face at age 6 months. (B) Clinical photograph of the face at age 3 years.", "detailed_caption": "Patient's facial features showing typical phenotype including epicanthus, midface hypoplasia, flat nasal bridge, small triangular nose with anteverted nostrils, carp-shaped mouth with full lips, and dental diastema at age 6 months (A) and 3 years (B)", "modalities": ["clinical"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/21218045/fig/2.jpg"], "caption": "(A) Peripheral blood photomicrograph of the patient. (B) Peripheral blood photomicrograph of the mother. (C) Peripheral blood photomicrograph of the eldest sister.", "detailed_caption": "Photomicrograph of the peripheral blood of our case with ATR-X syndrome. It shows cells containing HbH inclusions in our patient (A), and also his mother (B) and eldest sister (C).", "modalities": ["pathology"]}], "diagnosis": "X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome, confirmed by presence of HbH inclusions and genetic testing showing a point mutation on the 9th exon in the ATRX gene (thymine to cytosine mutation causing Trp220Ser amino acid change)", "standardized_diagnosis": [{"original_term": "X-linked alpha-thalassemia/mental retardation syndrome", "corrected_term": null, "code": "3A50.1", "title": "X-linked alpha thalassaemia with mental retardation", "chapter": "Diseases of the blood or blood-forming organs", "primary": true}]}, "year": 2011, "classification": "Genetic and congenital disorders"}
+{"pmid": "21120491", "patient_info": {"basic_info": "A 35-year-old man presented to the outpatient clinic with constant pain in the right hip for 2 months that worsened while walking. He had no history of systemic disease, regular medication use, trauma, morning stiffness, weight loss, or fever. On musculoskeletal examination, range of motion of all joints was within normal limits, with the right hip showing pain at the end of range. Neurological examination was normal, and no skin lesions were detected. Complete blood count, erythrocyte sedimentation rate, rheumatoid factor, C-reactive protein, thyroid, kidney and liver function tests, serum calcium, phosphorus, magnesium, alkaline phosphatase, 25[OH] vitamin D and parathyroid hormone levels were all normal.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/21120491/fig/1.jpg"], "caption": "Pelvis radiograph, anteroposterior view.", "detailed_caption": "Anteroposterior radiograph of the pelvis showing multiple, small, ovoid sclerotic lesions in both femoral heads, ileum and around the acetabulum of the pelvis, without narrowing the joint spaces", "modalities": ["x-ray"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/21120491/fig/2.jpg"], "caption": "CT scan of the pelvis.", "detailed_caption": "Computed tomography image showing multiple round sclerotic nodular lesions at iliac wings and sacrum which are mimicking metastases", "modalities": ["ct"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/21120491/fig/3.jpg"], "caption": "Tc-99m bone scintigraphy. Urinary system ultrasonography.", "detailed_caption": "Tc-99m bone scintigraphy revealed normal findings but incidentally showed kidney fusion anomaly, which was confirmed with urinary system ultrasonography", "modalities": ["pet/spect/nuclear", "ultrasound"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/21120491/fig/4.jpg"], "caption": "Anteroposterior radiograph of the hands.", "detailed_caption": "Anteroposterior radiograph of the hands demonstrating multiple sclerotic foci in the distal radius and ulna, carpal, metacarpal and proximal phalangeal bones", "modalities": ["x-ray"]}, {"type": "fig", "id": 5, "subfig": null, "path": ["images/21120491/fig/5.jpg"], "caption": "Shoulder radiograph, anteroposterior view, bilateral.", "detailed_caption": "Bilateral anteroposterior radiograph of the shoulder showing multiple radiodense sclerotic foci of the proximal humerus", "modalities": ["x-ray"]}], "diagnosis": "Osteopoikilosis (OPK)", "standardized_diagnosis": [{"original_term": "Osteopoikilosis", "corrected_term": null, "code": "LD24.11", "title": "Osteopoikilosis", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": true}]}, "year": 2011, "classification": "Orthopedic and connective tissue disorders"}
+{"pmid": "20191052", "patient_info": {"basic_info": "A 48-year-old Korean woman presented with an incidentally found neck mass in July 2006. Her past history was nonspecific and she had been well without weight loss or hoarseness until admission. There was no familial history of autoimmune diseases. On thyroid sonography, a 3.0 cm solid and cystic mass was detected in the right lobe of thyroid gland. Laboratory tests showed mild leukocytosis (12,430/μL) and normal thyroid function tests (free T4: 0.9 ng/dL, T3: 119 ng/dL, TSH: 5.16 μg/mL) with increased anti-thyroglobulin antibodies (11.25 unit/mL, reference: 0-0.3). She was serologically negative to human T-cell leukemia virus type I and human immunodeficiency virus. 99Tc nuclear medicine scans showed a large cold nodule in the right lobe. Fine needle aspiration of the thyroid was performed but was not informative due to drying artifact. Staging work-up including computed tomography scan (neck, chest and abdomen), bone marrow examination, and positron emission tomography were negative, indicating stage I tumor. The excised specimen from right lobectomy measured 5.3 × 4.0 × 2.0 cm and weighed 12.7 grams, with an ill-defined firm lesion measuring 2.5 × 1.5 �� 0.6 cm on the cut surface.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/20191052/fig/1.jpg"], "caption": "Histopathological image of the thyroid gland, H&E staining, ×100 and ×400 magnification.", "detailed_caption": "Figure 1 is a histopathological image of the thyroid gland, stained with hematoxylin and eosin (H&E), demonstrating at low magnification (original magnification ×100) a diffuse effacement of normal thyroid architecture by lymphoid infiltrates; the inset at higher magnification (original magnification ×400) shows small atypical lymphocytes invading thyroid follicles and forming lymphoepithelial lesions.", "modalities": ["pathology"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/20191052/fig/2.jpg"], "caption": "(A) Immunohistochemical staining with CD3, peroxidase method, 400× magnification. (B) Immunohistochemical staining with CD8, peroxidase method, 400× magnification. (C) Immunohistochemical staining for cytoplasmic TIA-1, peroxidase method, 400× magnification. (D) Immunohistochemical staining with CD20, peroxidase method, 400× magnification.", "detailed_caption": "Atypical small lymphocytes are stained with CD3 (Peroxidase. Original magnification ×400, A), CD8 (Peroxidase. Original magnification ×400, B), and cytoplasmic TIA-1-immunoreactivity (Peroxidase. Original magnification ×400, C). They are not stained with CD20 (Peroxidase. Original magnification ×400, D).", "modalities": ["pathology"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/20191052/fig/3.jpg"], "caption": "PCR-SSCP analysis for TCR-γ gene rearrangement, Vγ11 gene.", "detailed_caption": "PCR-SSCP analysis for TCR-γ gene rearrangement showed a monoclonal rearranged band for Vγ11 gene, confirming T-cell monoclonality.", "modalities": ["genetic"]}, {"type": "tab", "id": 1, "subfig": null, "path": ["images/20191052/tab/4.jpg"], "caption": "summary table of the current case of primary thyroid T-cell lymphomas with lymphoepithelial lesions, including patient age and sex, pathology type, genetic analysis method and result, presence of Hashimoto’s thyroiditis, treatment types, and clinical outcome at follow-up.", "detailed_caption": "Table 1, titled \"Summary of the primary thyroid T-cell lymphomas showing lymphoepithelial lesions,\" is a comparative summary table listing four reported cases of primary thyroid T-cell lymphomas with lymphoepithelial lesions, presenting patient age and sex, pathology type, genetic analysis method and result, presence of concomitant Hashimoto’s thyroiditis, treatment types used (including surgery, chemotherapy, and radiation), and the clinical outcome at follow-up, with all cases associated with Hashimoto’s thyroiditis and all patients being alive and disease-free at the indicated months of follow-up.", "modalities": ["pathology", "genetic", "clinical"]}], "diagnosis": "Peripheral T-cell lymphoma of TCR α/β+ inactivated cytotoxic phenotype associated with Hashimoto's thyroiditis", "standardized_diagnosis": [{"original_term": "Peripheral T-cell lymphoma", "corrected_term": null, "code": "2A90.C", "title": "peripheral t-cell lymphoma unspecified", "chapter": "Neoplasms", "primary": true}, {"original_term": "Hashimoto's thyroiditis", "corrected_term": null, "code": "5A03.20", "title": "Hashimoto thyroiditis", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": false}]}, "year": 2010, "classification": "Neoplastic diseases"}
+{"pmid": "21468271", "patient_info": {"basic_info": "A 40-year-old housewife woman presented with a 6-month history of increasing proximal muscle weakness that rapidly exacerbated one month prior to admission. She had been an athlete during high school and remained healthy until 3 years earlier when she developed weight loss and fatigue with diagnosis of Graves' disease and thyrotoxicosis. At that time, her serum liver enzymes (ALT 184 IU/mL, AST 94 IU/mL) were elevated without serologic evidence of viral hepatitis. After treatment with methimazole for one and a half years, remission of hyperthyroidism was achieved, but liver enzymes continued to fluctuate. Eighteen months before admission, she experienced persistent fatigue and weakness despite euthyroid status, with continued mild liver enzyme elevation. One year before admission, weight loss and myalgia developed with AST elevation to 187 IU/mL. Six months before admission, recurrent myalgia, muscle weakness, and anorexia developed. Three months prior to admission, proximal muscle weakness became evident with difficulty climbing upstairs. On examination, she appeared chronically ill but had normal vital signs. She could walk but complained of difficulty climbing upstairs or raising arms, with no specific skin lesions. Family history revealed that her two sons had been diagnosed with Duchenne muscular dystrophy in childhood and were bed-ridden, while her two brothers and parents were healthy, suggesting de novo mutation. Laboratory results showed serum CK level of 2,436 IU/mL, aldolase 11.9 IU/mL, LDH 312 IU/L, with normal TSH and free T4. Antinuclear antibody, anti-Jo-1 antibody, and anti-PM-SCL antibody were all negative.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/21468271/fig/1.jpg"], "caption": "(A) Muscle biopsy of the right vastus lateralis, low-power view. (B) Muscle biopsy of the right vastus lateralis, high-power view. (C) Muscle biopsy of the right vastus lateralis. (D, E) Muscle biopsy of the right vastus lateralis. (F) Muscle biopsy of the right vastus lateralis, dystrophin staining. (G) Muscle biopsy of the right vastus lateralis, LCA staining. (H) Muscle biopsy of the right vastus lateralis, CD68 staining.", "detailed_caption": "Muscle biopsy specimen of right vastus lateralis muscle. It shows variable sized muscle fiber, fatty infiltration, perimysial fibrosis, focal inflammatory infiltrates with the suspicious area of perifascicular atrophy in low power (A) and high power view (B). Perimysial atrophy mimicking dermatomyositis are also shown (C). Also regenerating fibers with inflammatory infiltration was shown (D, E). Dystrophin staining showed variable different staining pattern from normal to interruped mosaic pattern (F). Inflammatory cells are mainly macrophage-lineages on LCA (G), CD 68 (H) special staining with rarety of CD 4 and CD 8 positive cells (not shown).", "modalities": ["pathology"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/21468271/fig/2.jpg"], "caption": "X chromosome inactivation analysis after HpaII digestion", "detailed_caption": "X chromosome inactivation analysis showed highly skewed X chromosome inactivation with ratio of 19:81 after HpaII digestion compared to positive control with ratio 32:68.", "modalities": ["genetic"]}], "diagnosis": "Manifesting carrier of Duchenne muscular dystrophy with deletion mutation in exon 44 and highly skewed X chromosome inactivation", "standardized_diagnosis": [{"original_term": "Manifesting carrier of Duchenne muscular dystrophy", "corrected_term": null, "code": "8C70.1", "title": "Duchenne muscular dystrophy", "chapter": "Diseases of the nervous system", "primary": true}]}, "year": 2011, "classification": "Neurological disorders"}
+{"pmid": "21409598", "patient_info": {"basic_info": "A 36-year-old woman presented with paroxysmal orbito-temporal pain as the primary symptom. Beginning in August 2009, she experienced attacks of pulsating and stabbing pain in the right orbital to temporal region with sudden onset and duration of about 30 seconds, occurring 8-12 times almost daily without particular timing or identified triggers. During attacks, she experienced photophobia and phonophobia, but denied nausea, vomiting, conjunctival injection, or tearing. Nasal congestion was the only autonomic symptom present. She was previously healthy with no familial history of migraine. Physical examination during an attack-free period revealed no swelling or reddening of scalp arteries, no herpetic rash on face or head, and no particular neurological abnormalities except hypoesthesia in the first and second right trigeminal branch territories and tinnitus. Blood tests showed no abnormality in peripheral blood or general biochemical analysis, no signs of inflammatory reaction, and no abnormalities related to collagen disease or hypothalamo-hypophyseal hormones including prolactin or thyroid hormones. Previous treatment with carbamazepine and ibuprofen showed no improvement, and ophthalmologic consultation revealed no ocular pathology.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/21409598/fig/1.jpg"], "caption": "Brain MRI, axial plane, T1-weighted, T2-weighted, and FLAIR sequences, right cerebellopontine angle.", "detailed_caption": "Brain MRI in axial plane and T2 sequences showed an extraaxial lesion at the right cerebellopontine angle that was heterogeneous, hyperintense with well-defined edges. The lesion was hypointense on T1 (relative to cerebral cortex), hyperintense on T2, heterogeneous in FLAIR sequences, and did not capture contrast. The lesion displaced the VII and VIII cranial nerves and produced imprint on the brain stem and adjacent right cerebellar hemisphere without signs of infiltration. All features were suggestive of an epidermoid cyst.", "modalities": ["mri"]}], "diagnosis": "Short-lasting unilateral neuralgiform headache attacks with cranial autonomic symptoms (SUNA) secondary to epidermoid cyst in the right cerebellopontine angle", "standardized_diagnosis": [{"original_term": "Short-lasting unilateral neuralgiform headache attacks with cranial autonomic symptoms", "corrected_term": null, "code": "8A82", "title": "Short-lasting unilateral neuralgiform headache attacks with conjunctival injection or tearing", "chapter": "Diseases of the nervous system", "primary": true}, {"original_term": "Epidermoid cyst", "corrected_term": null, "code": "EK70.0Z", "title": "Epidermoid cyst", "chapter": "Diseases of the skin", "primary": false}]}, "year": 2011, "classification": "Neurological disorders"}
+{"pmid": "21103427", "patient_info": {"basic_info": "A 52-year-old female patient presented with a 1-year history of intermittent dysphagia and chest pain occurring specifically when swallowing large amounts of water. Her symptoms were localized to the lower substernal area and were accompanied by sharp, non-radiating chest pain that was relieved when the swallowed water reached the stomach. Notably, symptoms only occurred when guzzling water and not when taking small sips or eating, with no correlation to water temperature. Her past medical history was unremarkable with no family history of similar symptoms. Physical examination revealed normal body weight with no abnormalities on chest and abdominal examination. Upper gastrointestinal endoscopy performed at other hospitals showed no abnormal mucosal lesions. Barium esophagogram showed no abnormalities, and 24-hour esophageal impedance-pH monitoring revealed no pathologic regurgitation.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/21103427/fig/1.jpg"], "caption": "(A) High-resolution manometry spatio-temporal plot and concurrent 8 channel conventional manometry line plot on first swallow of 5 mL water. (B) High-resolution manometry spatio-temporal plot and concurrent 8 channel conventional manometry line plot on second swallow of 5 mL water. (C) High-resolution manometry spatio-temporal plot and concurrent 8 channel conventional manometry line plot on 13th swallow of 50 mL water. (D) High-resolution manometry spatio-temporal plot and concurrent 8 channel conventional manometry line plot on 14th swallow of 25 mL water.", "detailed_caption": "High-resolution manometry (HRM) spatio-temporal plots and concurrent 8 channel conventional ma- nometry line plots (from the same recording). (A) On the first swallow of 5 mL water, HRM shows a normal peristalsis and the patient has no chest pain and dysphagia. (B) On the second swallow of 5 mL water, HRM shows no spasm. (C) Normal peristalsis with impaired deglutitive inhibition is seen (asterisk) on 13th swallow of 50 mL water. The patient felt chest pain and dysphagia with this swallow. (D) On the 14th swallow of 25 mL, she complains symptoms and HRM shows esophageal spasm and normal deglutitive inhibition.", "modalities": ["electrophysiology"]}], "diagnosis": "Diffuse esophageal spasm (DES)", "standardized_diagnosis": [{"original_term": "Diffuse esophageal spasm", "corrected_term": null, "code": "DA21.22", "title": "Diffuse oesophageal spasm", "chapter": "Diseases of the digestive system", "primary": true}]}, "year": 2010, "classification": "Gastrointestinal disorders"}
+{"pmid": "20513245", "patient_info": {"basic_info": "A 37-year-old woman presented with a 4-month history of right facial pain and a 3-month history of progressive painful swelling beneath the right ear lobe. Physical examination revealed a soft swelling in the anteroinferior auricular area that was smooth, elastic, mobile and painful on pressure, but not fluctuant. The facial nerve function was normal and the cervical lymph node was not palpable. There were no systemic symptoms. The patient was screened for metastases, and no lung or abdomen lesions were detected.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/20513245/fig/1.jpg"], "caption": "CT scan of the right deep parotid lobe, contrast-enhanced.", "detailed_caption": "CT scan shows a contrast-enhanced computed tomography revealing a well-defined soft tissue mass (40 mm × 25 mm) in the right deep parotid lobe.", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/20513245/fig/2.jpg"], "caption": "Intraoperative gross photograph of the right parotid region.", "detailed_caption": "Figure 2 shows an intraoperative gross photograph depicting the relationship between the tumor and the facial nerve during surgery; the image demonstrates a grayish-red collagenous mass representing the tumor (indicated by a black arrow) and direct involvement of the main stem of the facial nerve (indicated by a yellow arrow), identified in the right parotid region.", "modalities": []}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/20513245/fig/3.jpg"], "caption": "Photomicrograph of the parotid gland tumor, H&E staining, 100× magnification, specimen obtained post-parotidectomy.", "detailed_caption": "Figure 3 is a photomicrograph of the tumor using hematoxylin and eosin (H&E) staining at 100x magnification, displaying myxoid areas in association with spindle cells exhibiting a pleomorphic storiform pattern; the anatomical site is the tumor arising from the parotid gland, and the specimen was obtained during pathological assessment post-parotidectomy.", "modalities": ["pathology"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/20513245/fig/4.jpg"], "caption": "(A) Immunohistochemical staining (immunoperoxidase technique), 200× magnification, ACT positive. (B) Immunohistochemical staining (immunoperoxidase technique), 200× magnification, VIM positive. (C) Immunohistochemical staining (immunoperoxidase technique), 200× magnification, Ki-67 labeling index=35%.", "detailed_caption": "Positive immunohistochemical findings (immunoperoxidase technique; ×200). The tumor cells are positive for ACT (a) and VIM (b). Labeling index of Ki-67 (c) is 35%.", "modalities": ["pathology"]}, {"type": "fig", "id": 5, "subfig": null, "path": ["images/20513245/fig/5.jpg"], "caption": "(A) Immunohistochemistry, immunoperoxidase technique, CD34 staining, 200× magnification. (B) Immunohistochemistry, immunoperoxidase technique, DES staining, 200× magnification. (C) Immunohistochemistry, immunoperoxidase technique, MG staining, 200× magnification. (D) Immunohistochemistry, immunoperoxidase technique, SMA staining, 200× magnification.", "detailed_caption": "Negative immunohistochemical findings (immunoperoxidase technique; ×200). The tumor cells are negative for CD34 (a), DES (b), MG (c) and SMA (d).", "modalities": ["pathology"]}], "diagnosis": "T3N0M0 (AJCC 2002) parotid myxofibrosarcoma of low histological grade", "standardized_diagnosis": [{"original_term": "Parotid myxofibrosarcoma", "corrected_term": null, "code": "2B53.0", "title": "Myxofibrosarcoma, primary site", "chapter": "Neoplasms", "primary": true}]}, "year": 2010, "classification": "Neoplastic diseases"}
+{"pmid": "21192869", "patient_info": {"basic_info": "A 37-year-old woman without known medical history presented two weeks after a tick bite with fever of 38.5°C, chills, headaches, and arthromyalgia. Physical examination findings were normal. Laboratory findings included leukopenia (3,300 leukocytes/μL, 45% polymorphonuclear cells, 37% lymphocytes), elevated liver enzymes with aspartate aminotransferase 136 IU/L and alanine aminotransferase 160 IU/L, γ-glutamyl transpeptidase 135 IU/L, alkaline phosphatase 131 IU/L, and elevated C-reactive protein at 48 mg/L. Serologic tests for Lyme disease, tick-borne encephalitis virus, tularemia, Anaplasma spp., Coxiella burnetii, and Rickettsia spp. were negative, as were blood cultures. A thin peripheral blood smear stained with May-Grünwald-Giemsa initially did not show ehrlichial morulae but retrospective examination revealed pear forms and trophozoites of intraerythrocytic parasites with parasitemia level of 0.29%. PCR testing was positive for Babesia spp., and sequencing showed 100% homology with B. divergens human strains.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/21192869/fig/1.jpg"], "caption": "Blood smear, May-Grünwald-Giemsa stain, original magnification ×1,000.", "detailed_caption": "Shows two pear-shaped trophozoites of Babesia divergens in erythrocytes from the patient (original magnification ×1,000, May-Grünwald-Giemsa stain)", "modalities": ["pathology"]}], "diagnosis": "Babesiosis caused by Babesia divergens", "standardized_diagnosis": [{"original_term": "Babesiosis", "corrected_term": null, "code": "1F52", "title": "Babesiosis", "chapter": "Certain infectious or parasitic diseases", "primary": true}]}, "year": 2011, "classification": "Infectious and immunologic disorders"}
+{"pmid": "21473748", "patient_info": {"basic_info": "A 10-year-old boy born at term in Morocco from non-consanguineous parents after an uncomplicated pregnancy presented with occipital headache lasting three months and height growth arrest, having grown only 1 cm in the previous 2 years while declining from the 75-90th percentile to the 25th percentile for height, and his weight increased from the 50th to 75th percentile in the last year. He denied vomiting, tiredness, or other symptoms. His past and family history were unremarkable with normal cognitive development. Physical examination revealed height 136 cm (25th percentile), weight 42 kg (75th percentile), prepubertal status, blood pressure 120/67 mmHg, pulse rate 72 bpm, and non-palpable thyroid gland. Neurological examination was normal, as were fundus oculi and visual fields. Blood tests showed full blood count, erythrocyte sedimentation rate, renal and liver function, and anti-coeliac screening were all normal. Thyroid ultrasound revealed normal thyroid size with markedly heterogeneous echo texture, hypo-echoic areas, and diffuse hypervascularization consistent with late-stage chronic thyroiditis.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/21473748/fig/1.jpg"], "caption": "(A, B) Sagittal T1-weighted MRI of the pituitary gland, pretreatment. (C-E) Coronal T1-weighted MRI of the pituitary gland, pretreatment. (B, D) Post-contrast intravenous Gadolinium administration.", "detailed_caption": "Pretreatment sagittal (A, B) and coronal (C-E) T1-weighted MR images show diffuse enlagement of the pituitary gland, that extends into the suprasellar cystern with mild compression of the optic chiasm and of the posterior neurohypophyseal lobe, which keeps its normal bright signal. After intravenous Gadolinum administration (B, D) the mass demonstrate homogeneous enhancement; the pituitary stalk (E) is raised but still along the midline.", "modalities": ["mri"]}, {"type": "tab", "id": 1, "subfig": null, "path": ["images/21473748/tab/2.jpg"], "caption": "Laboratory results before therapy.", "detailed_caption": "Before therapy, laboratory values showed TSH 589 mU/L (normal 0.20-4.50), Free T4 1.5 pmol/L (normal 12-22), Free T3 2.2 pmol/L (normal 3.8-8.6), IGF-I 8.6 nmol/L (normal 11.64-34.1), and PRL 1.23 nmol/L (normal 0.17-0.64).", "modalities": ["lab"]}], "diagnosis": "Pituitary hyperplasia secondary to primary autoimmune hypothyroidism (chronic autoimmune Hashimoto's thyroiditis)", "standardized_diagnosis": [{"original_term": "Pituitary hyperplasia", "corrected_term": null, "code": "5A61", "title": "pituitary disease", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": false}, {"original_term": "Primary autoimmune hypothyroidism", "corrected_term": null, "code": "5A00.2Y", "title": "Autoimmune hypothyroidism", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": true}, {"original_term": "Chronic autoimmune Hashimoto's thyroiditis", "corrected_term": null, "code": "5A03.2Z", "title": "Autoimmune thyroiditis", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": false}]}, "year": 2011, "classification": "Endocrine and metabolic disorders"}
+{"pmid": "21708008", "patient_info": {"basic_info": "An 81-year-old man presented to the emergency department with acute onset abdominal pain, accompanied by loss of appetite and general weakness that had started a few weeks earlier and worsened recently. No fever was noted at home. Physical examination revealed multiple purpura on the trunk and both lower extremities with gum bleeding, but no lymph node enlargement or organomegaly was detected by palpation. His medical history was significant for stage IIIC (pT4bN2aM0) ascending colon cancer treated with right hemicolectomy and partial duodenopancreatectomy with splenectomy in July 2006, followed by adjuvant chemotherapy. He had been disease-free until March 2010. Complete blood cell counts showed hemoglobin level of 12.5 g/dL, total leukocyte count of 15 × 10^9/L with 70% neutrophils, 15% lymphocytes, 9% monocytes, 4% eosinophils, and a severely low platelet count of 11 × 10^9/L. Blood biochemical test results were unremarkable. Ascites analysis revealed white blood cell count of 52,210/mm³, protein level of 2,600 mg/dL, albumin level of 2.5 g/dL (serum albumin 3.5 g/dL), and serum-ascites albumin gradient of 1.0 g/dL. LDH levels were markedly elevated in both serum (1,866 U/L) and ascites (2,200 U/L), compared to normal values of 101-202 U/L.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/21708008/fig/1.jpg"], "caption": "(A-D) CT scan.", "detailed_caption": "CT scan images (A-D) show diffuse peritoneal thickening (black arrows), diffuse nodular infiltration of omentum (white arrowheads), bowel wall thickening (black arrowhead) and ascites (asterisk).", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/21708008/fig/2.jpg"], "caption": "(A) Histological section, 400× magnification. (B) Immunohistochemical staining for CD20. (C) Immunohistochemical staining for Ki-67. (D) Immunoglobulin heavy chain rearrangement study.", "detailed_caption": "A) Malignant lymphoid cells with large hyperchromatic nuclei and high nuclear/cytoplasmic ratio are evident. (x400). B) Tumor cells express B cell marker, CD20. C) Tumor cells demonstrate high Ki67 index. D) Immunoglobulin heavy chain rearrangement study demonstrate clonal rearrangement. IgH(+)Ctl; positive control, (-)Ctl; negative control; D.W; distilled water, C10-3256; case with negative control, p10-14338/CB; present case", "modalities": ["pathology", "genetic"]}], "diagnosis": "Diffuse large B-cell lymphoma presenting with peritoneal lymphomatosis and ascites", "standardized_diagnosis": [{"original_term": "Diffuse large B-cell lymphoma", "corrected_term": null, "code": "2A81.Z", "title": "Diffuse large B-cell lymphomas", "chapter": "Neoplasms", "primary": true}, {"original_term": "Peritoneal lymphomatosis", "corrected_term": null, "code": "DC5Z", "title": "Diseases of peritoneum, unspecified", "chapter": "Diseases of the digestive system", "primary": false}, {"original_term": "Ascites", "corrected_term": null, "code": "ME04.Z", "title": "Ascites", "chapter": "Symptoms, signs or clinical findings, not elsewhere classified", "primary": false}]}, "year": 2011, "classification": "Neoplastic diseases"}
+{"pmid": "22022196", "patient_info": {"basic_info": "A-year-old male presented asymptomatically to the hospital on November 9, 2010, for evaluation of abnormalities found on a chest radiogram during a routine health check for military service. He was a current smoker with a 1.5 pack-year smoking history and had eight elder sisters but no family history of pulmonary disease. On admission, physical examination revealed no abnormal findings and laboratory data were normal. Pulmonary function testing showed normal results with FVC of 4.48 liters (115% predicted), FEV1 of 3.83 liters (107% predicted), FEV1/FVC ratio of 85%, and DLCO of 33.4 mL/mmHg/min (126% predicted). Bronchoscopy was performed with bronchoalveolar lavage fluid analysis showing 80% lymphocytes and 15% monocytes, with negative results for tuberculosis or malignancy. Transbronchial lung biopsy revealed a few alveolar tissues.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/22022196/fig/1.jpg"], "caption": "Chest radiograph, posteroanterior view.", "detailed_caption": "Chest radiogram (posteroanterior view) shows bilateral diffuse fine reticulonodular opacities in both lungs.", "modalities": ["x-ray"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/22022196/fig/2.jpg"], "caption": "(A) Chest HRCT, basal lung zone. (B) Chest HRCT, apical lung zone. (C, D) Chest CT, mediastinal window.", "detailed_caption": "Chest CT images of a patient with pulmonary alveolar microlithiasis. (A) HRCT image at the level of basal lung zone shows micronodules (white arrows), inter lobular septal thickening (black arrows), subpleural interstitial thickening (arrow heads), and some areas of ground- glass opacity (asterisk). (B) HRCT image at the level of apical lung zone shows micronodules (white arrows) and subpleural cystic changes (black arrows). (C, D) Mediastinal window scans show microcalcifications along the subpleural regions and some interlobar septa.", "modalities": ["ct"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/22022196/fig/3.jpg"], "caption": "(A) Lung biopsy, H&E staining, 20× magnification. (B) Lung biopsy, H&E staining, 200× magnification.", "detailed_caption": "Histological findings of video-assisted thoracoscopic surgery biopsy. (A) Small calcified nodules were scattered along the alveolar walls (H&E stained, × 20). (B) The small nodule was proved to be a lamellar microlith (H&E, × 200).", "modalities": ["pathology"]}], "diagnosis": "Pulmonary alveolar microlithiasis (PAM)", "standardized_diagnosis": [{"original_term": "Pulmonary alveolar microlithiasis", "corrected_term": null, "code": "CB06", "title": "Pulmonary alveolar microlithiasis", "chapter": "Diseases of the respiratory system", "primary": true}]}, "year": 2011, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "21165298", "patient_info": {"basic_info": "An 82-year-old Korean female patient presented to the National Police Hospital in Seoul on October 22, 2007, complaining of shortness of breath and dizziness that had lasted for years. She was a lifelong resident of Uljin-gun, a remote rural area in the eastern mountains of Gyeongsangbuk-do, Korea, with no history of overseas travel. She cultivated a small dooryard farm at home. Her past medical history included treatment for anemia with two transfusions in 2006 at a general hospital in Seoul, and she had also been treated for pulmonary tuberculosis at another hospital due to exertional dyspnea. On physical examination at admission, she appeared pale, ill-looking, and undernourished, but her vital signs were stable. Laboratory results revealed severe anemia with microcytic and hypochromic red blood cells, along with iron deficiency. Stool examination was negative for occult blood but was not examined for parasite eggs. Other biochemistry examinations including electrolytes, liver and renal functions were within normal limits. Serum ELISA against tissue invading helminthiases was negative for Clonorchis, Paragonimus, cysticercus, and sparganum.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/21165298/fig/1.jpg"], "caption": "(A) Gastroduodenoscopy performed at hospital admission, endoscopic views of the duodenal mucosa.", "detailed_caption": "Figure 1 presents gastroduodenoscopy images of the duodenum acquired at the time of hospital admission, revealing hyperemic mucosa and numerous movable, blood-tinged roundworms consistent with Necator americanus infection; the images correspond to endoscopic views of the duodenal mucosa, showing the active presence of live parasitic worms without additional staining or magnification annotation, and depict the anatomical site as the duodenum.", "modalities": ["endoscopy"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/21165298/fig/2.jpg"], "caption": "(A-C) Gastroduodenoscopy of the duodenum.", "detailed_caption": "Gastroduodenoscopy findings of the duodenum and hookworms. (A-C) Hyperemic mucosa and numerous movable blood tinged roundworms were found in the duodenum.", "modalities": ["endoscopy"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/21165298/fig/3.jpg"], "caption": "(A, B) Scanning electron microscopy, head region of N. americanus. (C) Scanning electron microscopy, tail region of female N. americanus.", "detailed_caption": "Scanning Electronic Microscopy photographs of N. americanus. (A, B) Head part of a worm, showing the buccal cavity with one pair of cutting plates. (C) Tail part of a female worm.", "modalities": []}], "diagnosis": "Severe anemia by Necator americanus infection", "standardized_diagnosis": [{"original_term": "Severe anemia", "corrected_term": null, "code": "3A9Z&XS25", "title": "anaemia NOS[Severe]", "chapter": "Diseases of the blood or blood-forming organs", "primary": true}, {"original_term": "Necator americanus infection", "corrected_term": null, "code": "1F68.1", "title": "Infection due to Necator americanus", "chapter": "Diseases of the skin", "primary": false}]}, "year": 2010, "classification": "Infectious and immunologic disorders"}
+{"pmid": "21267393", "patient_info": {"basic_info": "A 42-year-old female presented with effort angina for 2 months. She had no major cardiovascular risk factors such as diabetes mellitus, hypertension, dyslipidemia, smoking, or family history of cardiovascular disease. Five years prior to admission, she suffered tinnitus, vertigo, and hearing disturbance that progressed to sensorineural hearing loss despite medical therapy. Four years prior, she had been treated for recurrent ocular problems including red eyes, photophobia, ocular pain, and increased tearing for 2 years. At admission, her vital signs showed brachial blood pressures of 90/50 mmHg in the left arm and 96/57 mmHg in the right arm, pulse rate of 64 beats per minute, respiration rate of 16 breaths per minute, and body temperature of 36.5°C. Physical examination revealed a diastolic murmur at the cardiac base and systolic bruits over bilateral subclavicular area. No abnormal findings were observed in the abdomen, joints, and skin. Neurological examination was normal except for neurosensory deafness. Ophthalmologic examination showed normal visual acuity, corneas, anterior chambers, pupils and iris at that time. Laboratory tests showed white blood cell count 8,100/mm³, hemoglobin 10.7 g/dL, platelet count 439,000/mm³, erythrocyte sedimentation rate 73 mm/hr, and C-reactive protein 2.6 mg/dL. She tested negative for autoimmune tests (antinuclear antibody, antineutrophil cytoplasmic antibody, rheumatoid factors, antiphospholipid antibodies, complements) and negative for syphilis serology tests (VDRL, FTA-Abs).", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/21267393/fig/1.jpg"], "caption": "(A) Baseline electrocardiogram. (B) Electrocardiogram during exercise at Bruce protocol stage 2.", "detailed_caption": "Exercise electrocardiogram. A: baseline electrocardiogram shows normal sinus rhythm with nonspecific ST-T changes. B: electro-cardiogram during exercise at Bruce protocol stage 2 reveals significant ST segment depressions at lead II, III, aVF, V4, V5, V6.", "modalities": ["electrophysiology"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/21267393/fig/2.jpg"], "caption": "(A) Transesophageal echocardiogram, systolic phase, aortic valve. (B) Transesophageal echocardiogram, diastolic phase, aortic valve. (C) Transesophageal echocardiogram, descending thoracic aorta.", "detailed_caption": "Transesophageal echocardiogram shows retracted tips of aortic cusps in systolic phase (A), moderate aortic regurgitation in diastolic phase (B), and increased wall thickening at the descending thoracic aorta (C). Arrow indicates thickened intima.", "modalities": ["ultrasound"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/21267393/fig/3.jpg"], "caption": "(A) Coronary angiography, right anterior oblique view. (B) Coronary angiography, left anterior oblique view. (C) Subclavian angiography, anteroposterior view.", "detailed_caption": "Angiography shows ostial left main stenosis (A), ostial right coronary stenosis (B), and bilateral subclavian stenosis (C). A: right anterior oblique view. B: left anterior oblique view. C: anteroposterior view.", "modalities": ["angiography"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/21267393/fig/4.jpg"], "caption": "(A) Intravascular ultrasound of distal left main coronary artery. (B) Intravascular ultrasound of ostial left main coronary artery.", "detailed_caption": "Intravascular ultrasound shows increased intimal thickening at distal left main coronary (A) and negative remodeling with stenosis at ostial left main coronary artery (B).", "modalities": ["ultrasound"]}], "diagnosis": "Cogan's syndrome with angina resulting from coronary ostial stenosis caused by aortitis", "standardized_diagnosis": [{"original_term": "Cogan's syndrome", "corrected_term": null, "code": "4A44.Y", "title": "Cogan syndrome", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": true}, {"original_term": "Angina", "corrected_term": null, "code": "BA40.Z", "title": "Angina", "chapter": "Diseases of the circulatory system", "primary": false}, {"original_term": "Coronary ostial stenosis", "corrected_term": null, "code": "LA8C.Y", "title": "Congenital coronary ostial stenosis", "chapter": "Developmental anomalies", "primary": false}, {"original_term": "Aortitis", "corrected_term": null, "code": "BD53.Y&XA6Y34", "title": "Aortitis in diseases", "chapter": "Diseases of the circulatory system", "primary": false}]}, "year": 2010, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "21539747", "patient_info": {"basic_info": "A 53-year-old woman presented with fatigue and complete heart block. She had a significant medical history of neuro-sarcoidosis that was diagnosed six years previously, which initially presented with diplopia and hydrocephalus and was confirmed by meningeal biopsy. At that time, an MRI-conditional programmable ventriculo-peritoneal shunt had been inserted. Her transthoracic echocardiography was normal at the time of presentation with complete heart block.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/21539747/fig/1.jpg"], "caption": "Chest radiograph.", "detailed_caption": "Chest radiograph shows MRI-conditional pacemaker with white arrows indicating the MRI-conditional marker on the header of the pacemaker and similar wavy line markers on the leads", "modalities": ["x-ray"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/21539747/fig/2.jpg"], "caption": "Brain MRI.", "detailed_caption": "Brain MRI shows susceptibility artefact associated with the shunt, but otherwise stable intracranial disease with scattered white matter lesions and persistent dural enhancement", "modalities": ["mri"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/21539747/fig/3.jpg"], "caption": "SSFP cine MRI, 4-chamber view.", "detailed_caption": "SSFP cine 4 chamber view shows some susceptibility artefact from the pacemaker leads", "modalities": ["mri"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/21539747/fig/4.jpg"], "caption": "(left) Cardiac MRI, T2-weighted STIR images. (right) Cardiac MRI, late gadolinium enhancement.", "detailed_caption": "Cardiac MRI with T2-weighted STIR images (left panel) showing oedema (arrow) and (middle and right panels) extensive patchy late gadolinium enhancement typical of sarcoid.", "modalities": ["mri"]}], "diagnosis": "Cardiac sarcoidosis with oedema suggesting active disease", "standardized_diagnosis": [{"original_term": "Cardiac sarcoidosis", "corrected_term": null, "code": "4B20.Z", "title": "Sarcoidosis", "chapter": "Diseases of the immune system", "primary": true}]}, "year": 2011, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "21544649", "patient_info": {"basic_info": "A 21-year-old man was admitted to the hospital with sudden onset of severe holocranial pain and diplopia. The headache was continuous, worsening with position changes, particularly in upright positions, and was relieved by lying flat. The patient reported photophobia and nausea but denied phonophobia, vertigo, tinnitus, or vomiting. He had no history of head or neck trauma and no fever or rashes were present. Neurological examination was normal except for cranial nerve evaluation which revealed diplopia due to mild restricted adduction of the left eye toward right and ipsilateral partial ptosis. Pupils were equal and reactive to light both directly and consensually, as well as to accommodation. The diplopia resolved within 2 hours. Saccadic eye movements and ocular examination were normal with visual fields full to confrontation. Brain CT scan was negative for hemorrhage. Routine blood tests, rheumatic and autoimmune tests, paraneoplastic markers, serum angiotensin-converting enzyme levels, thoracic radiography, and abdominal ultrasound were all normal. CSF opening pressure was 5 cmH2O with lymphocytic pleocytosis of 20 cells/ml detected.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/21544649/fig/1.jpg"], "caption": "Sagittal T1-weighted brain MRI.", "detailed_caption": "Sagittal T1-weighted brain MRI showing mild descent of the brainstem with mild cerebellar tonsillar herniation and flattening of pontine surface, dilated sagittal sinus and enlargement of the pituitary gland, associated with subdural hematoma surrounding bilaterally the fronto-parietal and temporo-polar regions consistent with hygroma.", "modalities": ["mri"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/21544649/fig/2.jpg"], "caption": "Sagittal T2-weighted spinal MRI of the cervical region (C4 to atlanto-occipital junction and C5-D1 level).", "detailed_caption": "Sagittal T2-weighted spinal MRI demonstrating subdural fluid collection in the anterior section of the spinal cord at C5-D1 level with consequent posterior dislocation, and symmetrically dilated vascular structures with abnormal epidural venous engorgement anterior to the cervical cord without cord compression from C4 level up to atlanto-occipital junction.", "modalities": ["mri"]}, {"type": "fig", "id": 1, "subfig": "C", "path": ["images/21544649/fig/3.jpg"], "caption": "Coronal T1-weighted brain MRI with gadolinium.", "detailed_caption": "Coronal T1-weighted brain MRI post-gadolinium showing diffuse pachymeningeal enhancement in supratentorial and infratentorial regions, with dural enhancement also notable in the spinal cord at C1-D1 level.", "modalities": ["mri"]}, {"type": "fig", "id": 1, "subfig": "D", "path": ["images/21544649/fig/4.jpg"], "caption": "MR myelogram of the upper and lower spinal subdural space.", "detailed_caption": "MR myelogram of upper and lower spinal subdural space showing no signs of spreading cerebrospinal fluid at the level of the cervical and dorsal root pockets.", "modalities": ["mri"]}], "diagnosis": "Headache attributed to low CSF pressure (spontaneous intracranial hypotension) with transient isolated third nerve palsy", "standardized_diagnosis": [{"original_term": "Headache attributed to low cerebrospinal fluid pressure", "corrected_term": null, "code": "8A84.Y", "title": "Headache due to other causes of low cerebrospinal fluid pressure", "chapter": "Diseases of the nervous system", "primary": false}, {"original_term": "Spontaneous intracranial hypotension", "corrected_term": null, "code": "8D61.0", "title": "Spontaneous intracranial hypotension", "chapter": "Diseases of the nervous system", "primary": true}, {"original_term": "Transient isolated third nerve palsy", "corrected_term": null, "code": "9C81.1", "title": "isolated trochlear nerve palsy", "chapter": "Diseases of the visual system", "primary": false}]}, "year": 2011, "classification": "Neurological disorders"}
+{"pmid": "21935285", "patient_info": {"basic_info": "A 40-year-old woman presented to the hospital on November 9, 2009, with an extensive hematoma on the right hip area. She had delivered a full-term baby from her second pregnancy uneventfully 65 days prior via Cesarean section at an outside institution. Five days after delivery, she developed vaginal bleeding and high fever up to 40°C, was transfused with packed red blood cells for anemia (Hb 6.0 g/dL), and received uterine arterial embolization therapy via femoral artery to control bleeding. Subsequently, swelling and pain in the right femoral area where arterial embolization was performed progressed to hematoma. Her medical history revealed no personal or familial history of bleeding diathesis or significant medical conditions. She had a history of induced abortion 2 years previously with normal coagulation times at that time (aPTT 26.1 sec and PT 0.91 INR). Initial coagulation studies showed markedly prolonged aPTT which was not corrected on immediate 1:1 mixing study with normal plasma. Mixing test with prolonged incubation for 1 and 2 hours at 37°C showed further prolongation, compatible with delayed-acting inhibitor pattern. Factor assays revealed markedly decreased FVIII activity at severe level, while other factor activities were within normal ranges. Anti-FVIII antibody assay revealed high-titer FVIII inhibitor. Tests for anti-phospholipid antibodies were negative for anticardiolipin antibodies and anti-beta 2 glycoprotein I antibodies, while lupus anticoagulant tests were positive (PTT-LA 138.1 sec and Staclot LA 20.4 sec).", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/21935285/fig/1.jpg"], "caption": "Graph tracking aPTT values (seconds) and FVIII inhibitor levels (BU/mL) from C-section delivery through day 224 postpartum.", "detailed_caption": "Shows the clinical course tracking aPTT values (in seconds) and FVIII inhibitor levels (in BU/mL) over time from C-section delivery through day 224 postpartum, demonstrating the progression and eventual resolution of coagulation abnormalities", "modalities": ["lab"]}], "diagnosis": "Postpartum acquired hemophilia A with high-titer FVIII inhibitor", "standardized_diagnosis": [{"original_term": "Postpartum acquired hemophilia A", "corrected_term": null, "code": "JA43.3/3B22", "title": "Postpartum coagulation defects[Acquired haemophilia]", "chapter": "Pregnancy, childbirth or the puerperium", "primary": true}, {"original_term": "Factor VIII inhibitor disorder", "corrected_term": null, "code": "3B10.0", "title": "congenital factor VIII disorder", "chapter": "Diseases of the blood or blood-forming organs", "primary": false}]}, "year": 2011, "classification": "Infectious and immunologic disorders"}
+{"pmid": "16614534", "patient_info": {"basic_info": "A 34-year-old woman was admitted to the hospital with multiple painful nodules in both legs and bluish discoloration of the left 4th fingertip, which was first recognized a few days before admission. She had no smoking history and no history of Raynaud's phenomenon, frostbite, or recurrent fetal loss. About one month prior to admission, she experienced a sore throat. Physical examination revealed blood pressure of 100/70 mmHg, pulse of 68/min, respiratory rate of 22/min, and temperature of 36.5°C. Multiple tender nodules were found on both legs with shallow ulcers over the lateral malleolus. Radial pulses were symmetric and strong, and Allen's test was normal. Cardiac and abdominal examinations were normal.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/16614534/fig/1.jpg"], "caption": "Clinical photograph of the left hand.", "detailed_caption": "clinical picture shows erythematous nodules on palm and ischemic change of the distal phalanx of the left 4th finger", "modalities": ["clinical"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/16614534/fig/2.jpg"], "caption": "Skin biopsy.(H&E, ×100)", "detailed_caption": "Skin biopsy demonstrating leukocytoclastic vasculitis of medium sized artery with massive cellular infiltrate consisting mostly of polymorphonuclear cells", "modalities": ["pathology"]}], "diagnosis": "Cutaneous polyarteritis nodosa with vasculitic arterial occlusion of finger", "standardized_diagnosis": [{"original_term": "Cutaneous polyarteritis nodosa", "corrected_term": null, "code": "EF40.Z", "title": "Cutaneous polyarteritis nodosa", "chapter": "Diseases of the skin", "primary": true}, {"original_term": "Vasculitic arterial occlusion", "corrected_term": null, "code": "BD30.Z", "title": "Acute arterial occlusion", "chapter": "Diseases of the circulatory system", "primary": false}]}, "year": 2006, "classification": "Dermatologic and mucosal diseases"}
+{"pmid": "22323959", "patient_info": {"basic_info": "A 56-year-old man, 172 cm in height and 85 kg in weight, was scheduled for tonsillectomy to rule out tonsillar cancer. He had a medical history of hypertension and non-insulin dependent diabetes since the last 5 years and was taking Valsartan, Amlodipine + Atorvastatin, Sulodexide, Fenofibrate, Aspirin, Pregabalin and Glibenclamide + Metformin. During endocrinology clinic follow-up, chest X-ray showed three small well-defined nodular opacities in the left lower lung field and high-resolution computed tomography of chest showed suspicious metastatic nodules in lower lobes of both lungs and a small nodular lesion with high attenuation in the ampulla of Vater. Esophagogastroduodenoscopy showed no specific findings except gastric erosion and duodenal ulcer. Abdominal ultrasound, colonoscopy, and positron emission tomography-computed tomography were performed, but the original cancer lesion could not be detected. However, chest CT for CT-guided needle aspiration biopsy showed lymph node enlargement in the left oropharynx which could be the suspected primary focus. Preoperative laboratory tests were all within normal limits. The electrocardiogram showed nonspecific ST abnormality with normal sinus rhythm at a rate of 93 beats/min and a transthoracic echocardiogram showed normal sized cardiac chambers and normal global left ventricular systolic function with an ejection fraction of 58%. A treadmill exercise stress test showed equivocal changes in stage 4. His functional capacity was more than 4 METs and he had no specific symptoms, but he had a lot of concerns about the progress and prognosis of pulmonary nodules that might be cancer metastasis. He denied any symptoms of chest pain or dyspnea preoperatively. Before anesthesia induction, his blood pressure was 165/97 mmHg, heart rate was 76 beats/min and peripheral oxygen saturation was 97%.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/22323959/fig/1.jpg"], "caption": "Chest radiograph, anteroposterior view, immediate postoperative period.", "detailed_caption": "Immediate postoperative chest AP radiograph shows increased opacity in bilateral perihilar areas", "modalities": ["x-ray"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/22323959/fig/2.jpg"], "caption": "Electrocardiogram performed postoperatively.", "detailed_caption": "Postoperative electrocardiogram shows ST segment elevation in leads V2-4 and T-wave inversion in leads I, aVL, V2-6", "modalities": ["electrophysiology"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/22323959/fig/3.jpg"], "caption": "Transthoracic echocardiography of the left ventricle.", "detailed_caption": "Transthoracic echocardiography shows left ventricular dysfunction with apical ballooning resembling the octopus trap (takotsubo)", "modalities": ["ultrasound"]}], "diagnosis": "Stress-induced cardiomyopathy", "standardized_diagnosis": [{"original_term": "Stress-induced cardiomyopathy", "corrected_term": null, "code": "BC43.5", "title": "Stress-induced cardiomyopathy", "chapter": "Diseases of the circulatory system", "primary": true}]}, "year": 2012, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "22065912", "patient_info": {"basic_info": "A 23-year-old Korean female presented to the emergency clinic with visual disturbance and visual field defect in her left eye that developed 1 day prior. She had been experiencing recurrent visual field defects in both eyes and headache for 6 months, which became aggravated 1 month before presentation. Two days later, she developed sudden hearing loss in her left ear. Three weeks after initial presentation, she complained of visual field defect in her right eye, and two days later was admitted for tinnitus and severe headache with arm numbness. She denied having diabetes, hypertension, connective tissue disease, tuberculosis, hematologic disease, cardiovascular disease, oral contraceptive use, or pregnancy. On initial examination, pupils were reactive to light without relative afferent papillary defect. Corrected visual acuity was 20/20 in right eye and 20/25 in left eye. IOP was 18 mmHg in both eyes. Slit lamp examination showed no abnormal findings in anterior segment of both eyes. Laboratory tests including lupus anticoagulant, anticardiolipin antibody, erythrocyte sedimentation rate, and C-reactive protein were all normal. Cerebrospinal fluid analysis showed a slight increase in protein concentration (74.4 mg/dL) without evidence of oligoclonal bands. There were no specific hematologic or rheumatologic abnormalities.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/22065912/fig/1.jpg"], "caption": "(A) Fundus photograph. (B) Fluorescein angiography.", "detailed_caption": "Fundus photo showing edematous lesions in the supra-temporal area (A). Fluorescein angiography, showing a hyperfluorescent arterial wall proximal to the obstructed branch retinal artery (B).", "modalities": ["ophthalmic imaging", "angiography"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/22065912/fig/2.jpg"], "caption": "Visual field test of both eyes.", "detailed_caption": "Visual field test showing an infra-nasal field defect in her left eye corresponding to the obstructed lesion and a small field defect in her right eye.", "modalities": ["ophthalmic imaging"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/22065912/fig/3.jpg"], "caption": "Pure tone audiometry of the left ear.", "detailed_caption": "Pure tone audiometry, showing decreased sensitivity to low-frequency sounds in the left ear.", "modalities": ["electrophysiology"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/22065912/fig/4.jpg"], "caption": "(A, B) Brain MRI, diffusion weighted imaging. (C) Brain MRI, sagittal view, FLAIR sequence.", "detailed_caption": "Magnetic resonance image of the brain. (A, B) Diffusion weighted images, showing a diffusion restricted lesion in the corpus callosum and left fornix. (C) Sagittal Fluid-attenuated inversion recovery (FLAIR) image showing a focal signal change in the corpus callosum.", "modalities": ["mri"]}], "diagnosis": "Susac syndrome", "standardized_diagnosis": [{"original_term": "Susac syndrome", "corrected_term": null, "code": "8A45.2Y", "title": "Susac syndrome", "chapter": "Diseases of the nervous system", "primary": true}]}, "year": 2011, "classification": "Neurological disorders"}
+{"pmid": "21218047", "patient_info": {"basic_info": "A 54-year-old woman with no significant past medical history presented with progressive 4-extremities weakness and sensory changes, followed by urinary difficulty over the course of 1 month. Physical examination revealed increased deep tendon reflexes, positive Babinski sign, and decreased motor power with MRC grade 2 strength on the right side and MRC grade 4 strength on the left side. Pinprick and temperature sensation was decreased from C4 level, dominantly on the left side, while vibration and proprioception were decreased, dominantly on the right side. Hoffman's and Tromner's signs were increased in both hands. Serological studies for systemic autoimmunity, including rheumatoid factor and antinuclear, anti-dsDNA, anti-SSA/SSB, and antiphospholipid antibodies, showed no abnormality. Cerebrospinal fluid analysis including biochemistry, IgG index and oligoclonal band was normal. Angiotensin converting enzyme was mildly elevated to 56 U/L (normal <52 U/L). Systemic evaluations showed no disease activity in other organs using brain MRI, chest and abdominal computed tomography, and nerve conduction study.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/21218047/fig/1.jpg"], "caption": "MRI of the cervical spine, T2-weighted sequence, C4 to C6 level.", "detailed_caption": "Initial cervical spine MRI revealed increased T2 signal from C4 to C6 level, edematous expansion of the cord and intense nodular enhancement, raising suspicion for spinal cord tumor, demyelinating disease and acute transverse myelitis.", "modalities": ["mri"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/21218047/fig/2.jpg"], "caption": "Spinal MRI performed at one-month follow-up.", "detailed_caption": "Follow-up spinal MRI one month later showed more extended lesion relative to previous MRI, highly suggesting spinal cord tumor such as intramedullary astrocytoma.", "modalities": ["mri"]}, {"type": "fig", "id": 2, "subfig": "A", "path": ["images/21218047/fig/3.jpg"], "caption": "Cervical cord lesion biopsy, H&E staining, 200× magnification.", "detailed_caption": "A: The specimen biopsied from the cervical cord lesion was examined using hematoxylin and eosin (H&E) staining at 200× magnification, revealing multinucleated giant cells, lymphocytes, and aggregated histiocytes within granulomatous inflammation that is consistent with non-caseating granuloma characteristic of sarcoidosis.", "modalities": ["pathology"]}, {"type": "fig", "id": 2, "subfig": "B, C", "path": ["images/21218047/fig/4.jpg"], "caption": "(B) AFB staining. (C) PAS staining.", "detailed_caption": "AFB staining did not show mycobacterium tuberculosis and PAS staining did not reveal fungus (B,C).", "modalities": ["pathology"]}], "diagnosis": "Isolated spinal cord neurosarcoidosis", "standardized_diagnosis": [{"original_term": "Spinal cord neurosarcoidosis", "corrected_term": null, "code": "4B20.3", "title": "Neurosarcoidosis", "chapter": "Diseases of the immune system", "primary": true}]}, "year": 2011, "classification": "Neurological disorders"}
+{"pmid": "23169504", "patient_info": {"basic_info": "13-year-old girl with a multiply recurrent hypothalamic/chiasmatic pilocytic astrocytoma with ventricular metastases. Had never received steroids or bisphosphonates. After 16 courses of treatment, complained of wrist pain. Physical examination revealed tenderness to palpation of the left dorsal wrist with decreased range of motion.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23169504/fig/1.jpg"], "caption": "(A) Wrist radiograph. (B) MRI of the wrist.", "detailed_caption": "Initial wrist radiograph did not reveal any bony abnormalities. MRI of the affected wrist revealed diffuse bone marrow edema with mild fragmentation and collapse of the lunate bone consistent with Kienbock's malacia (osteonecrosis of the lunate bone).", "modalities": ["x-ray", "mri"]}], "diagnosis": "Bevacizumab-associated osteonecrosis of the lunate bone (Kienbock's malacia)", "standardized_diagnosis": [{"original_term": "Bevacizumab-associated osteonecrosis", "corrected_term": null, "code": "FB81.Z", "title": "Osteonecrosis", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": true}, {"original_term": "Kienbock's malacia", "corrected_term": null, "code": "FB81.0", "title": "Kienböck disease", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": false}]}, "year": 2013, "classification": "Orthopedic and connective tissue disorders"}
+{"pmid": "22969262", "patient_info": {"basic_info": "A 7-year-old Korean boy presented with a 1-day history of cough, fever, and aggravating dyspnea in November 2009. On physical examination, breath sounds were decreased in the left lung. Real-time polymerase chain reaction (RT-PCR) for H1N1 was positive. Laboratory studies revealed hemoglobin of 13.2 g/dL, white blood cell count of 10,600/μL (polymorphonuclear cells 95.8%, lymphocytes 1.5%, eosinophils 2.7%), and platelet count of 318,000/μL. C-reactive protein level was 2.3 mg/dL, erythrocyte sedimentation rate was 6 mm/hr, and antistreptolysin O titer was 105 RU/mL. Anti-mycoplasma antibody was negative. Total IgE exceeded 3,000 IU/mL. Electrolytes, liver and kidney function tests were normal. Arterial blood gas analysis showed pH 7.42, pCO₂ 34.5 mmHg, pO₂ 67.5 mmHg, and HCO₃ 22.3 mmHg. Gram-stain, acid fast stain, potassium hydroxide mounts, Mycobacterium tuberculosis culture, culture for other sputum bacteria, and fungus culture of sputum were all negative. The patient had a known history of allergy to ceftriaxone.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/22969262/fig/1.jpg"], "caption": "(A) Chest radiograph performed in November 2009. (B) Chest radiograph performed in April 2010.", "detailed_caption": "Chest radiographs at the first attack with H1N1 infection in November, 2009 (A) and second attack with influenza B infection in April, 2010 (B) shows total atelectasis in the left lung and hyperaeration in the right lung.", "modalities": ["x-ray"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/22969262/fig/2.jpg"], "caption": "(A, C) Chest CT at the first attack. (B, D) Chest CT after bronchoscopic removal of bronchial casts.", "detailed_caption": "Chest computed tomography (CT) at the first attack (A, C) reveals left main bronchial obstruction with low attenuated materials and atelectasis of the left lung. Chest CT after bronchoscopic removal of bronchial casts (B, D) shows recovered left lung with good aeration.", "modalities": ["ct"]}], "diagnosis": "Plastic bronchitis associated with 2009 influenza A (H1N1) virus infection", "standardized_diagnosis": [{"original_term": "Plastic bronchitis", "corrected_term": null, "code": "CA20.Y", "title": "Cardiac procedure related plastic bronchitis", "chapter": "Diseases of the respiratory system", "primary": true}, {"original_term": "Influenza A (H1N1) virus infection", "corrected_term": null, "code": "1E31&XN297", "title": "Influenza due to infection with Influenza A/H1N1 virus", "chapter": "Diseases of the respiratory system", "primary": false}]}, "year": 2012, "classification": "Infectious and immunologic disorders"}
+{"pmid": "22389885", "patient_info": {"basic_info": "A 2-year-old Korean male was admitted for evaluation and management of left hip pain. Physical examination revealed several palpable lymph nodes in the left inguinal area and an ill-defined heterogeneous mass-like lesion in the left anteromedial muscle. Peripheral blood examination showed hemoglobin 9.6 g/dL, white blood cell count 6.83 × 10^9/L, platelet count 182 × 10^9/L, and 5 atypical lymphocytes per 100 white blood cells. Immunophenotyping of neoplastic cells showed positivity for CD45 (99.0%), CD19 (94.84%), CD10 (27.64%), CD20 (94.24%), HLA-DR (95.70%), surface IgG lambda (96.45%), CD13 (22.46%), and CD117 (22.22%), and negativity for CD34 (0.01%), Tdt (0.64%), myeloperoxidase (0.01%), and various T-cell and myeloid markers.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/22389885/fig/1.jpg"], "caption": "(A) Immunohistochemistry for BCL2, femur neck, 400× magnification. (B) Immunohistochemistry for BCL6, femur neck, 400× magnification. (C) Immunohistochemistry for CD10, femur neck, 400× magnification. (D) Immunohistochemistry for Ki-67, femur neck, 400× magnification.", "detailed_caption": "Immunohistochemistry shows positivity for BCL2 (A), BCL6 (B), CD10 (C), and Ki67 (D) of tumor cells (Femur neck, immunohistochemical stains, 400 × magnification).", "modalities": ["pathology"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/22389885/fig/2.jpg"], "caption": "(A) Bone marrow smear, Wright–Giemsa stain, 1,000× magnification. (B) Bone marrow biopsy, H&E stain, 1,000× magnification.", "detailed_caption": "Bone marrow smear (A, Wright–Giemsa stain, 1,000 × magnification) and biopsy (B, H&E stain, 1,000 × magnification) reveal abnormal lymphoid cells composed of large and medium sized cells. Large neoplastic cells showed irregular nuclei with 1-2 distinct nucleoli and abundant deeply basophilic cytoplasm. Medium-sized cells showed round nuclei with 1-4 prominent nucleoli and had scantly to moderately basophilic cytoplasm with some vacuoles.", "modalities": ["pathology"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/22389885/fig/3.jpg"], "caption": "Karyotype analysis by Giemsa–trypsin banding.", "detailed_caption": "Giemsa–trypsin banding showed the following karyotypes: 46,XY,t(8;14)(q24.1;q32),del(11)(q13),dup(11)(q22q13),der(17)del(17) (p12)t(1;17)(q21;q25)[29]/46,idem,t(12;19)(q13;p13.2)[4]/46,idem,add(19))(p11)[4]/46,idem,add(13)(q34)[3].", "modalities": ["genetic"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/22389885/fig/4.jpg"], "caption": "FISH analysis using Vysis LSI IGH/MYC, CEP 8 tri-color, dual fusion translocation probe.", "detailed_caption": "FISH analysis using Vysis LSI IGH/MYC, CEP 8 tri-color, dual fusion translocation probe reveals IGH-MYC rearrangement with 2 fusions (IGH-MYC fusions on der(8)t(8;14) and der(14)t(8;14)), 1 orange (native MYC), 1 green (native IGH), and 2 aqua (D8Z2) signals.", "modalities": ["genetic"]}], "diagnosis": "B-cell lymphoma, unclassifiable, with features intermediate between diffuse large B-cell lymphoma and Burkitt lymphoma (intermediate DLBCL/BL)", "standardized_diagnosis": [{"original_term": "B-cell lymphoma, unclassifiable, with features intermediate between diffuse large B-cell lymphoma and Burkitt lymphoma", "corrected_term": null, "code": "2A86.1", "title": "B-cell lymphoma unclassifiable with features intermediate between Burkitt lymphoma and diffuse large B-cell lymphoma", "chapter": "Neoplasms", "primary": true}, {"original_term": "Diffuse large B-cell lymphoma", "corrected_term": null, "code": "2A81.Z", "title": "Diffuse large B-cell lymphomas", "chapter": "Neoplasms", "primary": false}, {"original_term": "Burkitt lymphoma", "corrected_term": null, "code": "2A85.6", "title": "“Burkitt-like” lymphoma", "chapter": "Neoplasms", "primary": false}]}, "year": 2012, "classification": "Neoplastic diseases"}
+{"pmid": "22563559", "patient_info": {"basic_info": "27-year-old male presented with headache, dizziness, nausea, and vomiting for 3 days before admission. Physical examination showed no palpable lymph-node enlargement or hepatosplenomegaly. Laboratory findings showed: WBC count 49.5×109/L, hemoglobin 161 g/L, platelet count 36×109/L, with 95% blasts in peripheral blood smear. Serum lactate dehydrogenase (LDH) was markedly elevated to 13,022 IU/L. Flow cytometry showed leukemic blasts were positive for CD2, CD7, CD5, and CD3, and negative for TdT, CD34, CD13, CD33, CD10, CD19, CD20, and CD22.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/22563559/fig/1.jpg"], "caption": "Peripheral blood smear, Wright’s stain, 200× magnification.", "detailed_caption": "T-lymphoblastic leukemia. Peripheral blood smear containing leukemic cells (Wright’s stain, × 200)", "modalities": ["pathology"]}, {"type": "fig", "id": 1, "subfig": "B,C", "path": ["images/22563559/fig/2.jpg"], "caption": "(B) Bone marrow aspirate smear, Wright-Giemsa stain, 200× magnification. (C) Bone marrow aspirate smear, Wright-Giemsa stain, 1,000× magnification.", "detailed_caption": "Bone marrow aspirate smear showing leukemic cells that are small-to-medium sized, with a high nuclear-to-cytoplasmic ratio (Wright-Giemsa stain, × 200 (B) and × 1,000 (C))", "modalities": ["pathology"]}, {"type": "fig", "id": 1, "subfig": "D", "path": ["images/22563559/fig/3.jpg"], "caption": "Biopsy section, H&E staining, 100× magnification.", "detailed_caption": "Biopsy section showing hypercellularity with heavy infiltration of immature cells (H&E, × 100)", "modalities": ["pathology"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/22563559/fig/4.jpg"], "caption": "Karyotype analysis.", "detailed_caption": "Karyotype showing 46,Y,t(X;14)(q22;q11.2),t(12;14)(p13;q11.2)", "modalities": ["genetic"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/22563559/fig/5.jpg"], "caption": "(A,B) FISH at initial diagnosis using TCRAD DNA Probe, metaphase (A) and interphase (B). (C) Schematic diagram of positions of RP11-815E21 and RP11-105F23 at Xq22.3; start and end positions from NCBI36/hg18 assembly. (D) FISH using RP11-815E21 and RP11-105F23.", "detailed_caption": "FISH at initial diagnosis using the TCRAD DNA Probe, Split Signal (DakoCytomation, Glostrup, Denmark), which showed 2 red and 2 green abnormal signals in metaphase (A) and interphase (B). A schematic diagram of the positions of RP11-815E21 and RP11-105F23 at Xq22.3 (C). Start and end positions were acquired from NCBI36/hg18 assembly. FISH using RP11-815E21 and RP11-105F23 showing 1 red and 1 green break-apart signal (D).\nAbbreviation: TCRAD, T-cell receptor alpha delta.", "modalities": ["genetic"]}], "diagnosis": "T-lymphoblastic leukemia (T-ALL)", "standardized_diagnosis": [{"original_term": "T-lymphoblastic leukemia", "corrected_term": null, "code": "2A90.5", "title": "t-cell acute lymphoblastic leukaemia", "chapter": "Neoplasms", "primary": true}]}, "year": 2012, "classification": "Neoplastic diseases"}
+{"pmid": "23000292", "patient_info": {"basic_info": "49-year-old woman with recently diagnosed hypertension who developed sudden onset aphasia and right hemiplegia", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/23000292/fig/1.jpg"], "caption": "CT of the brain, axial view.", "detailed_caption": "Axial CT showing haematoma in left subcortical region", "modalities": ["ct"]}, {"type": "fig", "id": 1, "subfig": "B,C", "path": ["images/23000292/fig/2.jpg"], "caption": "CT angiogram, sagittal view.", "detailed_caption": "Sagittal dynamic CT-angiogram showing contrast extravasation", "modalities": ["ct", "angiography"]}, {"type": "fig", "id": 1, "subfig": "D,E,F", "path": ["images/23000292/fig/3.jpg"], "caption": "(D–F) Dynamic CT-angiography of the brain, three-dimensional reconstructions.", "detailed_caption": "D, E, and F: Three-dimensional reconstructions from dynamic CT-angiography of the brain demonstrate contrast extravasation within the left subcortical region, indicative of ongoing intracerebral bleeding in the acute phase of haemorrhage.", "modalities": ["ct", "angiography"]}], "diagnosis": "Acute intracerebral hemorrhage (left subcortical) due to presumed hypertension", "standardized_diagnosis": [{"original_term": "Acute intracerebral hemorrhage", "corrected_term": null, "code": "8B00.Z", "title": "Intracerebral haemorrhage", "chapter": "Diseases of the nervous system", "primary": true}, {"original_term": "Hypertension", "corrected_term": null, "code": "BA00.Z", "title": "hypertension NOS", "chapter": "Diseases of the circulatory system", "primary": false}]}, "year": 2013, "classification": "Neurological disorders"}
+{"pmid": "22290282", "patient_info": {"basic_info": "A 16-year-old Caucasian girl was referred to the hospital due to elevated arterial blood pressure detected during a routine examination at school. She was in good general condition with normal physical and mental development, weighing 49 kg (10th percentile) and measuring 161 cm (25th percentile) with a BMI of 18 kg/m² and Tanner stage III. She had virtually no complaints, though detailed history revealed weakness and fatigability of the upper left extremity, and difficulties in measuring blood pressure on her left arm had occurred 2 years earlier. Family history was unremarkable. Physical examination showed no evidence of heart failure with regular heart rate at 90/min, normal cardiac sounds, and a soft (grade 2/6) systolic murmur audible over the cardiac apex. Vascular bruits over the interscapular and right supra- and subclavian areas were heard on auscultation. The muscles of the upper left extremity were slightly atrophic with decreased tone. The pulse of the left external carotid artery and left radial artery was absent, while femoral pulses were present and equal. Blood pressure measurements revealed significantly elevated systolic pressure on the right arm (192/77 mmHg), difficult measurement on the left arm (approximately 90/52 mmHg), and blood pressure on right and left legs of 137/74 and 134/70 mmHg, respectively. Fundoscopic examination was normal.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/22290282/tab/1.jpg"], "caption": "Table of spiral computed tomography angiography results, listing anatomical sites of aortic measurement with corresponding diameters in millimeters and z scores.", "detailed_caption": "Table 1, found on page 4 of the document, presents the results of the spiral computed tomography angiography (SCTA) examination, listing anatomical sites of aortic measurement with their corresponding diameters in millimeters and z scores, as well as observed abnormalities. The measurements include the ascending aorta (29 mm, z score 3.87), first transverse segment (20 mm), second transverse segment (19 mm), isthmic region (14 mm, z score −1.87), and the minimal diameter of the descending aorta (8 mm, z score −4.77, which is below the 3rd percentile). The observed abnormalities are described as a smooth external outline of the aorta with an irregular internal outline and laminar calcification in the ascending aorta wall, thickened walls and narrowed lumina of the brachiocephalic trunk, right common carotid artery (proximal portion, about 7 cm in length), and right subclavian artery (proximal portion, about 1 cm in length), complete occlusion of the left common carotid artery and the left subclavian artery, collateral circulation on the thoracic wall and parathyroid vessels, slight thickening of the pulmonary trunk wall, and a normal abdominal aorta and renal arteries.", "modalities": ["ct", "angiography"]}, {"type": "fig", "id": 1, "subfig": null, "path": ["images/22290282/fig/2.jpg"], "caption": "(A) Spiral computed tomography angiography, cross-sectional slices, level of ascending aorta and descending aorta, proximal section of pulmonary trunk. (B) Spiral computed tomography angiography, cross-sectional slices, level of aortic arch, left internal thoracic artery. (C) Spiral computed tomography angiography, cross-sectional slices, proximal sections of aortic arch branches, left common carotid artery, left subclavian artery. (D) Spiral computed tomography angiography, cross-sectional slices, right vertebral artery, left vertebral artery, left common carotid artery.", "detailed_caption": "Spiral computed tomography angiography examination, cross-section slices presenting circumferential thickening of aortic wall. \na: Level of AAo and DAo with slightly thickened wall of proximal section of pulmonary trunk; \nb :evel of aortic arch with nonenhanced L ITA; \nc: proximal sections of aortic arch branches with occluded L CCA and L SCA; \nd: widening of R VA, lack of opacification of L VA and L CCA (marked with arrows). AAo ascending aorta, AA aortic arch, DAo descending aorta, BCT brachiocephalic trunk, CCA common carotid artery (L left, R right), SCA subclavian artery (L left, R right), VA vertebral artery (L left, R right), ITA internal thoracic artery (L left, R right), PT pulmonary trunk", "modalities": ["ct", "angiography"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/22290282/fig/3.jpg"], "caption": "(A) SCTA vessel analysis protocol, secondary 2D reconstruction of the descending aorta. (B) SCTA volumetric reconstruction, 3D view of aortic arch branches.", "detailed_caption": "SCTA examination—secondary 2D and 3D reconstructions. \na: Vessel analysis protocol—thickened aortic wall with slightly narrowed lumen of DAo; \nb: volumetric reconstruction view of branches of aortic arch with occluded L CCA and L SCA marked with arrows", "modalities": ["ct"]}], "diagnosis": "Takayasu arteritis type IIb with pulmonary trunk involvement", "standardized_diagnosis": [{"original_term": "Takayasu arteritis", "corrected_term": null, "code": "4A44.1", "title": "Takayasu arteritis", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": true}, {"original_term": "Pulmonary artery involvement", "corrected_term": null, "code": "LA8B.1", "title": "pulmonary artery abnormality", "chapter": "Developmental anomalies", "primary": false}]}, "year": 2012, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "20514321", "patient_info": {"basic_info": "A-year-old woman presented with a change in mental status after a 1-year history of multiple hospital admissions for abdominal pain, nausea, and vomiting. She had undergone primary closure and omental patch operation for spontaneous duodenal perforation one year prior, with gastrointestinal symptoms managed by proton pump inhibitor pantoprazole during this period. Her medical history included craniotomy in 1980 for pituitary macroadenoma. On admission, she demonstrated hypoglycemia with blood glucose of 30 mg/dL and 4-hour fasting glucose of 30 mg/dL, accompanied by elevated plasma insulin (15.0 uIU/mL) and C-peptide (4.16 ng/mL). Laboratory studies revealed markedly elevated fasting plasma gastrin (447.0 pg/mL, normal 0-110 pg/mL), elevated serum calcium (12.1 mg/dL, normal 8.4-10.2 mg/dL), and elevated parathyroid hormone (233.3 pg/mL, normal 8-76 pg/mL). Physical examination findings included neuroglycopenic symptoms secondary to hypoglycemia and symptoms suggestive of severe peptic ulcer disease. Neck CT demonstrated a 2×1 cm soft tissue mass in the dorsal portion of left thyroid compatible with parathyroid adenoma and a right thyroid nodule.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/20514321/fig/1.jpg"], "caption": "(A) CT scan of the abdomen, pancreas, head portion, mass size 1.5×1.2 cm. (B) CT scan of the abdomen, liver, lateral segment.", "detailed_caption": "CT scan of abdomen, (A) Arrowhead points to 1.5×1.2 cm size hypervascular mass in the pancreas head portion. (B) Arrow showed hypervascular mass at liver lateral segment.", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/20514321/fig/2.jpg"], "caption": "Somatostatin-receptor scintigraphy with [111In] DTPA octreotide, liver.", "detailed_caption": "Somatostatin-receptor scintigraphy with [111In] DTPA octreotide demonstrated strong uptake of the radiotracer in the left lateral segment at the site of the hepatic mass.", "modalities": ["pet/spect/nuclear"]}, {"type": "fig", "id": 3, "subfig": "A", "path": ["images/20514321/fig/3.jpg"], "caption": "Pancreas tumor section, H&E staining, 100× magnification.", "detailed_caption": "A: Histopathological findings of the pancreas tumor are shown as a hematoxylin and eosin stained section at original magnification ×100, demonstrating a well-differentiated pancreatic neuroendocrine tumor.", "modalities": ["pathology"]}, {"type": "fig", "id": 3, "subfig": "B", "path": ["images/20514321/fig/4.jpg"], "caption": "Immunohistochemical staining of pancreas, insulin marker.", "detailed_caption": "Immunohistochemical stains of pancreatic neuroendocrine tumor are positive for insulin.", "modalities": ["pathology"]}, {"type": "fig", "id": 4, "subfig": "A", "path": ["images/20514321/fig/5.jpg"], "caption": "Liver section, H&E staining.", "detailed_caption": "Hematoxylin/eosin stained sections show a well differentiated liver neuroendocrine tumor.", "modalities": ["pathology"]}, {"type": "fig", "id": 4, "subfig": "B", "path": ["images/20514321/fig/6.jpg"], "caption": "Immunohistochemical staining of liver tumor, gastrin antibody, 100× magnification.", "detailed_caption": "B: Immunohistochemical analysis of the liver tumor demonstrates strong positive staining for gastrin in the neuroendocrine tumor cells of the hepatic lesion, using a gastrin antibody at an original magnification of ×100.", "modalities": ["pathology"]}], "diagnosis": "Multiple endocrine neoplasia type 1 (MEN 1) with primary hyperparathyroidism, pituitary adenoma, pancreatic insulinoma, and primary hepatic gastrinoma", "standardized_diagnosis": [{"original_term": "Multiple endocrine neoplasia type 1", "corrected_term": null, "code": "2F7A.0", "title": "Multiple endocrine neoplasia type 1", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": true}, {"original_term": "Primary hyperparathyroidism", "corrected_term": null, "code": "5A51.0", "title": "Primary hyperparathyroidism", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": false}, {"original_term": "Pituitary adenoma", "corrected_term": null, "code": "5A60.0", "title": "anterior pituitary adenoma syndrome", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": false}, {"original_term": "Pancreatic insulinoma", "corrected_term": null, "code": "2E92.9", "title": "Pancreas insulinoma", "chapter": "Neoplasms", "primary": false}, {"original_term": "Primary hepatic gastrinoma", "corrected_term": null, "code": "2C10.1", "title": "Gastrinoma", "chapter": "Neoplasms", "primary": false}]}, "year": 2010, "classification": "Endocrine and metabolic disorders"}
+{"pmid": "23233711", "patient_info": {"basic_info": "38-year-old man with past history of stage 1B primary cutaneous melanoma diagnosed 12 years earlier presented with weight loss and anemia. Initial metastatic disease found in GI tract. BRAF V600E mutation was detected. Three months after bowel surgery, imaging showed recurrent disease in right hilum (3.2-cm mass) and small bowel (2.2-cm mass). Initial brain MRI was unremarkable. Subsequently developed 1.5-cm right supraclavicular node (confirmed metastatic melanoma by fine-needle aspirate) and gradual left-sided weakness. Physical examination confirmed left hemiparesis (4+/5 strength). Serum lactate dehydrogenase was normal.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A,B", "path": ["images/23233711/fig/1.jpg"], "caption": "Brain MRI, T1-weighted with gadolinium and T2/FLAIR sequences, axial images, right parietal lobe, mass size 5.5×3.5×5.6 cm.", "detailed_caption": "Brain MRI revealed 5.5×3.5×5.6-cm enhancing cystic mass in right parietal lobe with surrounding vasogenic edema, visible on T1-weighted with gadolinium and T2/FLAIR axial images. No other suspicious lesions or abnormalities noted in brain.", "modalities": ["mri"]}, {"type": "fig", "id": 2, "subfig": "A-H", "path": ["images/23233711/fig/2.jpg"], "caption": "Brain tissue pathology, positive staining for S-100, vimentin, and CD3; negative for MART-1, MITF, and gp100/Pmel17; Ki-67 staining, high proliferative index.", "detailed_caption": "Initial pathology from brain lesion showed hypercellular brain tissue with heterogeneous elements. Tumor cells showed epithelioid morphology, chronic inflammatory infiltrate of CD3+ cells, and positive staining for S-100 and vimentin. MART-1, MITF, and gp100/Pmel17 were nonreactive. High proliferative index shown by Ki-67 staining.", "modalities": ["pathology"]}], "diagnosis": "Metastatic melanoma with BRAF V600E mutation, with metastases to GI tract and brain", "standardized_diagnosis": [{"original_term": "Metastatic melanoma", "corrected_term": null, "code": "2E2Z", "title": "Metastatic melanoma of unspecified site", "chapter": "Neoplasms", "primary": true}, {"original_term": "Gastrointestinal metastasis", "corrected_term": null, "code": "DE2Z", "title": "gastrointestinal disorder NOS", "chapter": "Diseases of the digestive system", "primary": false}, {"original_term": "Brain metastasis", "corrected_term": null, "code": "2D50", "title": "brain metastases", "chapter": "Neoplasms", "primary": false}]}, "year": 2013, "classification": "Neoplastic diseases"}
+{"pmid": "22363383", "patient_info": {"basic_info": "A 63-year-old female patient with no previous medical history presented with acute onset of dyspnea and facial swelling lasting one month. Physical examination revealed jugular venous engorgement that worsened in the right decubitus position, a grade 3/6 cardiac systolic murmur, third gallop, right upper quadrant tenderness, and decreased breathing sounds in both lungs. ECG showed sinus tachycardia with normal QRS axis. Laboratory findings showed remarkably elevated lactate dehydrogenase at 1,549 IU/L with normal blood count.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A and B", "path": ["images/22363383/fig/1.jpg"], "caption": "(A) Transthoracic echocardiography. (B) Transesophageal echocardiography.", "detailed_caption": "Tranthoracic echocardiography (A) and transesophageal echocardiography (B) showed a 6.5 cm mobile mass in the right atrium and a 3.5 cm mobile mass in the left atrium (arrows). ", "modalities": ["ultrasound"]}, {"type": "fig", "id": 1, "subfig": "C and D", "path": ["images/22363383/fig/2.jpg"], "caption": "(C, D) Coronary angiography.", "detailed_caption": "Coronary angiography revealed no stenotic lesions, but we observed feeding vessels (arrows) from the left circumflex artery and the proximal right coronary artery to the primary cardiac lymphoma (C and D).", "modalities": ["angiography"]}, {"type": "fig", "id": 2, "subfig": "A and B", "path": ["images/22363383/fig/3.jpg"], "caption": "(A, B) Cardiac CT.", "detailed_caption": "Cardiac CT (A and B) showed huge bi-atrial masses with invasion into the atrial septum, pericardium and myocardium. ", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": "C", "path": ["images/22363383/fig/4.jpg"], "caption": "Positron emission tomography-CT of the heart, pericardium, mediastinal, and right supraclavicular lymph nodes.", "detailed_caption": "Positron emission tomography-CT showed markedly increased fluorodeoxyglucose uptake in the heart and pericardium as well as mediastinal and right supraclavicular lymph nodes invasion.", "modalities": ["pet/spect/nuclear", "ct"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/22363383/fig/5.jpg"], "caption": "Surgical Biopsy of Cardiac Mass.(A) Hematoxylin-Eosin staining, 400× magnification. (B) Immunohistology, CD20 positive, CD3 negative.", "detailed_caption": "Hematoxylin-Eosin staining (high power field, ×400) (A) was consistent with a diffuse large B cell lymphoma. This was confirmed by immunohistology. The cells were CD20 B positive (B) and CD3 T negative.", "modalities": ["pathology"]}], "diagnosis": "Primary cardiac lymphoma - diffuse large B-cell lymphoma", "standardized_diagnosis": [{"original_term": "Primary cardiac lymphoma", "corrected_term": null, "code": "2B33.5", "title": "Lymphoma NOS", "chapter": "Neoplasms", "primary": true}, {"original_term": "Diffuse large B-cell lymphoma", "corrected_term": null, "code": "2A81.Z", "title": "Diffuse large B-cell lymphomas", "chapter": "Neoplasms", "primary": false}]}, "year": 2012, "classification": "Neoplastic diseases"}
+{"pmid": "23301735", "patient_info": {"basic_info": "A 63-year-old man was admitted with a 4-day history of progressively worsening symptoms beginning with aching in his elbows and decreased appetite. He subsequently developed difficulty forming words, mild light-headedness, and difficulty swallowing liquids, with a severe gagging sensation when attempting to drink water that resolved when he spat it out. He became increasingly anxious and stopped drinking liquids. He experienced intermittent decreased fluency in speech, pruritus at the nape of his neck, and intermittent tremulousness. The patient had a medical history of hypertension, chronic ptosis of the right eyelid, and a tick bite 6 months earlier that was treated with doxycycline. He had received influenza and tetanus vaccinations within the past year. The patient reported a transient pruritic rash on his left shoulder 2 weeks earlier. He lived with his wife in an old house in a semirural region of New England where bats had been seen in his home and in a barn where he had worked during the previous year. On physical examination, he appeared anxious with dry mucous membranes. His blood pressure was 171/80 mm Hg, pulse 86 bpm, temperature 36.4°C, respiratory rate 16 breaths per minute, and oxygen saturation 98% on room air. Neurological examination revealed ptosis of the right eyelid, mild facial twitching, postural hand tremors, dysmetria on finger-nose-finger and heel-to-shin testing without truncal ataxia, symmetrically hyperactive deep tendon reflexes throughout with flexor plantar reflexes, and mild difficulty with tandem walking. His speech was rushed and fluent except for occasional slurred words and pauses for word finding.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/23301735/tab/1.jpg"], "caption": "Laboratory results from other hospital and on admission; cerebrospinal fluid analysis on second hospital day; blood gas analysis.", "detailed_caption": "Laboratory results showed white-cell count of 12,000 at other hospital and 13,200 on admission with neutrophilia (75.3% and 76% respectively), normal glucose and electrolytes, and normal protein levels. Cerebrospinal fluid analysis performed on second hospital day revealed colorless, clear fluid with no xanthochromia, white-cell count of 39 in tube 1 and 27 in tube 4 (normal 0-5), with 69% lymphocytes and 31% monocytes in tube 4, protein 50 mg/dl (normal 5-55), glucose 84 mg/dl (normal 50-75), and negative PCR for varicella-zoster virus and Epstein-Barr virus DNA. Blood gas analysis showed pH 7.20, indicating metabolic acidosis.", "modalities": ["lab"]}, {"type": "fig", "id": 1, "subfig": null, "path": ["images/23301735/fig/2.jpg"], "caption": "(A) Coronal slice of the right cerebral hemisphere at the level of the thalamus. (B) Frontal cortex section, Luxol fast blue–hematoxylin and eosin staining. (C) Pons section. (D) Cerebellar cortex section.", "detailed_caption": "A coronal slice of the right cerebral hemisphere at the level of the thalamus (Panel A) shows gray discoloration of the cortex and deep nuclei and loss of the usual sharp junction of the gray matter and white matter, as well as necrosis around the third ventricle (Panel A, arrow). The temporal horn of the lateral ventricle is mildly dilated, reflecting loss of brain substance. A section of frontal cortex shows loss of neurons, macrophage infiltration, and gliosis (Panel B, Luxol fast blue–hematoxylin and eosin). There are Negri bodies in the neuron (inset, arrow). Panel C shows tegmental infarction in the pons (upper inset), with neuronal necrosis and macrophage infiltration in the basis pontis (lower inset) (arrows indicate higher magnification). The cerebellum has relative preservation of neurons in the granule-cell layer of the cerebellar cortex, as compared with the neurons of the cerebral cortex, and loss of Purkinje cells (Panel D).", "modalities": ["pathology"]}], "diagnosis": "Human rabies", "standardized_diagnosis": [{"original_term": "Rabies", "corrected_term": null, "code": "1C82", "title": "Rabies", "chapter": "Certain infectious or parasitic diseases", "primary": true}]}, "year": 2013, "classification": "Infectious and immunologic disorders"}
+{"pmid": "23281978", "patient_info": {"basic_info": "A 44-year-old man presented to the emergency department with severe, substernal, burning chest pain radiating to the left arm that had awakened him from sleep 1 hour earlier, accompanied by nausea and nonbilious, nonbloody vomiting. For the past month, he had experienced similar but less intense intermittent chest pain not related to exertion, lasting hours to days, with temporary relief from antacids and omeprazole. He reported no dyspnea, lower-extremity edema, immobility, fever, cough, or trauma. His medical history was unremarkable, and he had not seen a physician for years. He was employed as a physician, denied tobacco, alcohol, or illicit drug use, and had no family history of premature coronary artery disease. Physical examination showed he was afebrile with blood pressure 133/83 mmHg, heart rate 61 beats per minute, oxygen saturation 97% on ambient air, and appeared in considerable distress while clutching his chest. He was thin with midline trachea, regular cardiac rhythm without extra heart sounds, no jugular venous distention or lower-extremity edema, normal breath sounds bilaterally, and nontender chest on palpation. The abdomen was soft and nontender with normal bowel sounds, no organomegaly or lymphadenopathy, and unremarkable skin examination. Laboratory studies revealed troponin level of 0.08 ng/mL (normal <0.10), white cell count of 22,000/mm³ with 74% neutrophils and 18% band forms, platelet count of 771,000/mm³, hemoglobin of 17.5 g/dL, normal coagulation studies, and fasting glucose of 192 mg/dL. The patient recalled being told about a high platelet count of approximately 600,000/mm³ when donating platelets 12 years earlier, but this was not investigated. He reported intermittent generalized pruritus after hot showers but denied bleeding, thrombotic events, burning pain in hands or feet, headache, dizziness, or other neurologic symptoms.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23281978/fig/1.jpg"], "caption": "Electrocardiogram performed 2 hours after chest pain onset.", "detailed_caption": "Electrocardiogram obtained 2 hours after chest pain onset showed normal sinus rhythm with ST-segment elevation in leads V2 to V5, I, and aVL, and ST-segment depression in lead III.", "modalities": ["electrophysiology"]}], "diagnosis": "ST-segment elevation myocardial infarction (STEMI) with underlying primary myelofibrosis", "standardized_diagnosis": [{"original_term": "ST-segment elevation myocardial infarction", "corrected_term": null, "code": "BA41.0", "title": "Acute ST segment elevation myocardial infarction", "chapter": "Diseases of the circulatory system", "primary": true}, {"original_term": "Primary myelofibrosis", "corrected_term": null, "code": "2A20.2", "title": "Primary myelofibrosis", "chapter": "Neoplasms", "primary": false}]}, "year": 2013, "classification": "Neoplastic diseases"}
+{"pmid": "23182983", "patient_info": {"basic_info": "A 74-year-old Greek man presented with a past medical history of hypertension, glaucoma, erosive gastritis, and prostate cancer. He was admitted with symptoms of increasing abdominal pain, nausea, vomiting, lightheadedness, and constipation. On physical examination, he was afebrile and normotensive, with notable findings of temporal wasting, distended but nontender abdomen, 2+ pitting edema of lower extremities, and bilateral palpable axillary lymphadenopathy. Initial laboratory studies showed hemoglobin 8.4 g/dL, WBC count 7.6 K/μL (68% segmented neutrophils, 12% lymphocytes, 20% monocytes), platelets 210 K/μL, electrolytes including sodium 131 mEq/L, potassium 4.3 mEq/L, chloride 96 mEq/L, bicarbonate 27 mEq/L, blood urea nitrogen 24 mg/dL, creatinine 1.0 mg/dL, calcium 9.3 mg/dL, albumin 3.3 g/dL, AST 99 U/L, ALT 41 U/L, alkaline phosphatase 444 U/L, total bilirubin 2.6 mg/dL, prothrombin time 17.1 seconds, activated partial thromboplastin time 48.0 seconds, and international normalized ratio of 1.4.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23182983/fig/1.jpg"], "caption": "CT of the chest, abdomen, and pelvis; mass measuring 8.2 × 8.3 cm anterior to the head of the pancreas; multiple enlarged lymph nodes in bilateral axillae, mediastinum, and retroperitoneum; spleen with multiple hypodensities.", "detailed_caption": "CT scan of chest, abdomen, and pelvis revealed an 8.2 × 8.3-cm mass anterior to the head of the pancreas with complete compression and thrombosis of right, left, and main portal veins. Multiple lymph nodes were enlarged in bilateral axillae, mediastinum, and retroperitoneum. The spleen was not enlarged but contained multiple hypodensities throughout suggestive of lymphomatous involvement.", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/23182983/fig/2.jpg"], "caption": "(A) Axillary lymph node biopsy, H&E staining. (B) Axillary lymph node biopsy, Ki-67 immunohistochemical staining, proliferation rate 75–80%. (C) Axillary lymph node biopsy, CD20 immunohistochemical staining. (D) Axillary lymph node biopsy, MUM1 immunohistochemical staining. (E) Axillary lymph node biopsy, BCL2 immunohistochemical staining. (F) Axillary lymph node biopsy, CD5 immunohistochemical staining.", "detailed_caption": "Pathologic evaluation of the axillary lymph node revealed diffuse effacement of nodal architecture with proliferation of medium to large sized atypical lymphoid cells (Fig 2A). Large areas of necrosis were present with extension of atypical cells through the lymph node capsule. The proliferation rate measured by Ki-67 staining was estimated at 75% to 80% (Fig 2B). Immunohistochemical staining showed atypical lymphoid cells expressing CD20 (Fig 2C), PAX5, MUM1 (Fig 2D), BCL2 (Fig 2E), CD5 (Fig 2F), and BCL6, but negative for CD10, CD3, CD23, and cyclin D1. CD5 expression was biphasic with more intense staining of T lymphocytes (CD3) and less intense positive expression of neoplastic B cells (CD20). Epstein-Barr virus in situ hybridization was negative.", "modalities": ["pathology"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/23182983/fig/3.jpg"], "caption": "(A,B) Bone marrow cytology, H&E staining, low-power field, obtained during acute clinical deterioration.", "detailed_caption": "Figure 3 comprises two subfigures (A and B) displaying bone marrow cytology specimens stained with hematoxylin and eosin. Both images demonstrate morphologic evidence of hemophagocytosis, as indicated by arrows highlighting phagocytic histiocytes containing erythroid and other hematopoietic cells; these samples were obtained during the patient’s acute clinical deterioration and are shown in a low-power field.", "modalities": ["pathology", "clinical"]}], "diagnosis": "CD5+ diffuse large B-cell lymphoma (DLBCL) with hemophagocytosis", "standardized_diagnosis": [{"original_term": "CD5+ diffuse large B-cell lymphoma", "corrected_term": null, "code": "2A81.Z", "title": "Diffuse large B-cell lymphomas", "chapter": "Neoplasms", "primary": true}, {"original_term": "Hemophagocytosis", "corrected_term": "Hemophagocytic lymphohistiocytosis", "code": "4A01.23", "title": "haemophagocytic lymphohistiocytosis NOS", "chapter": "Diseases of the immune system", "primary": false}]}, "year": 2013, "classification": "Neoplastic diseases"}
+{"pmid": "23299610", "patient_info": {"basic_info": "A 46-year-old man receiving chronic hemodialysis for polycystic kidney disease presented to the hospital with new-onset dyspnea and altered sensorium. He had associated thigh swelling. Physical examination revealed mental confusion without fever or hemodynamic instability, jugular venous distension, an apical 5/6 holosystolic murmur, bilateral inspiratory crackles, lower extremity edema, and bilateral shoulder and hip swelling. Transesophageal echocardiography identified moderate regurgitation. Computed tomography of the head was unrevealing.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/23299610/fig/1.jpg"], "caption": "Clinical photograph of the left thigh, lateral view.", "detailed_caption": "Lateral view of the left thigh showing spontaneously draining 'milky' material", "modalities": ["clinical"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/23299610/fig/2.jpg"], "caption": "Radiograph of the pelvis and hips, standard projection.", "detailed_caption": "B: Radiograph of the pelvis and hips demonstrating bulky, extra-articular calcifications surrounding the hip joints, consistent with large extraosseous soft tissue calcific masses as described in the context of uremic tumoral calcinosis; no specific scan timing or orientation beyond standard pelvic radiographic projection is noted.", "modalities": ["x-ray"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/23299610/fig/3.jpg"], "caption": "Transesophageal 3-dimensional echocardiogram of the mitral valve from the left atrial perspective in diastole.", "detailed_caption": "Transesophageal 3-dimensional echocardiogram showing the mitral valve from the left atrial perspective in diastole with a large multilobulated calcific mass attached to the posterior mitral leaflet", "modalities": ["ultrasound"]}], "diagnosis": "Uremic tumoral calcinosis (UTC) with mitral valve calcification", "standardized_diagnosis": [{"original_term": "Uremic tumoral calcinosis", "corrected_term": null, "code": "5C64.5", "title": "tumoural calcinosis", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": true}, {"original_term": "Mitral valve calcification", "corrected_term": null, "code": "BC01/BB60.Z", "title": "Mitral prosthetic valve stenosis due to calcification", "chapter": "Diseases of the circulatory system", "primary": false}]}, "year": 2013, "classification": "Endocrine and metabolic disorders"}
+{"pmid": "22553953", "patient_info": {"basic_info": "1-year-old girl with unremarkable birth history. At 1 month, developed brief tonic seizures of upper limbs with eye deviation several times daily. At 2 months, developed spasms in clusters following series of brief tonic seizures. By 4 months, experienced approximately 10 spasm clusters daily. Each spasm episode included slight tonic limb contraction, head adverse motion, and eye deviation to the right, lasting about 1 minute. Initially could gaze and track subjects, but development arrested after onset of seizures. Genetic testing revealed heterozygous mutation IVS29+1 G>A in TSC1 gene.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "a", "path": ["images/22553953/fig/1.jpg"], "caption": "MRI of the brain, T1-weighted sequence, right frontal lobe and left parietal lobe.", "detailed_caption": "Brain magnetic resonance imaging scan showing a slightly hyperintense lesion on T1-weighted images and cortical atrophy in the right frontal lobe involving the superior and medial frontal gyri and in the left parietal lobe.", "modalities": ["mri"]}, {"type": "fig", "id": 1, "subfig": "b", "path": ["images/22553953/fig/2.jpg"], "caption": "(A) Ictal single-photon emission computed tomography, axial section. (B) Ictal single-photon emission computed tomography, coronal section.", "detailed_caption": "Axial and coronal sections of ictal single-photon emission computed tomography scans. Increased perfusion was seen over the right central region (white encircled area). ", "modalities": ["pet/spect/nuclear"]}, {"type": "fig", "id": 1, "subfig": "c", "path": ["images/22553953/fig/3.jpg"], "caption": "(A) Interictal magnetoencephalography, three-dimensional and sagittal images, brain.", "detailed_caption": "A three-dimensional image and sagittal sections of the interictal magnetoencephalography scans. The region encircled by the white line indicates the cortical tuber. Spike dipoles were clustered at the pericortical tuber, and only one spike dipole was detected above the cortical tuber.", "modalities": ["electrophysiology"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/22553953/fig/4.jpg"], "caption": "(A) Ictal electroencephalographic (EEG) recording around periodic spasms, time constant 0.1 s. (B) Expanded view of EEG recording in (A), band pass filter 5.7–120 Hz.", "detailed_caption": "Visible fast oscillations recorded around periodic spasms. (a) Ictal encephalographic (EEG) recordings around the occurrence of periodic spasms. A mixture of sharp waves and slow waves were seen just before spasms at P4, T4, and T6 (time constant, 0.1 s). (b) Expansion of the EEG recording in (a) encircled by the black line. Fast rhythmic waves were seen at C4, P4, T4, T6, and O2 (underlined) (band pass filter ranging from 5.7 to 120 Hz).", "modalities": ["electrophysiology"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/22553953/fig/5.jpg"], "caption": "EEG frequency analysis of right centroparietal areas, gamma activity 60–70 Hz, spectral power measured 100–200 ms before spasms.", "detailed_caption": "EEG frequency analysis showed gamma activity of 60-70 Hz with high spectral power over right centroparietal areas 100-200ms before spasms", "modalities": ["electrophysiology"]}], "diagnosis": "Tuberous sclerosis (TS) with periodic epileptic spasms", "standardized_diagnosis": [{"original_term": "Tuberous sclerosis", "corrected_term": null, "code": "LD2D.2", "title": "Tuberous sclerosis", "chapter": "Developmental anomalies", "primary": true}, {"original_term": "Epileptic spasms", "corrected_term": null, "code": "8A61.2Y", "title": "Cryptogenic late-onset epileptic spasms", "chapter": "Diseases of the nervous system", "primary": false}]}, "year": 2012, "classification": "Neurological disorders"}
+{"pmid": "23323127", "patient_info": {"basic_info": "A 68-year-old woman presented to the hospital with dyspnea (New York Heart Association class 3). On physical examination, she appeared puffy and anemic. Her vital signs showed blood pressure of 100/70 mm Hg, heart rate of 94/min, and respiratory rate of 22/min. Cardiac examination revealed a midsystolic murmur along the sternal border and a bruit was audible over the epigastrium. Her medical history was significant for recurrent epistaxis and multiple episodes of gastrointestinal bleeding. Family history was notable for recurrent epistaxis in her mother, one sister and one daughter.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23323127/fig/1.jpg"], "caption": "Clinical photographs of the tongue, finger tips, and cheek.", "detailed_caption": "Shows typical multiple telangiectasias on the tongue, finger tips and the cheek", "modalities": ["clinical"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/23323127/fig/2.jpg"], "caption": "Chest X-ray, cardiothoracic (CT) ratio=65%.", "detailed_caption": "Chest X-ray showing generalized cardiomegaly (CT ratio 65%) with increased pulmonary vascular markings and pulmonary edema", "modalities": ["x-ray"]}, {"type": "fig", "id": 3, "subfig": "A and B", "path": ["images/23323127/fig/3.jpg"], "caption": "Computed tomography scans of the abdomen with contrast and 3D reconstruction", "detailed_caption": "CT angiography of the abdomen showed a tortuous and dilated hepatic artery and near total replacement of liver parenchyma by engorged vascular structures with arteriovenous shunt formation", "modalities": ["ct"]}], "diagnosis": "High-output heart failure caused by hereditary hemorrhagic telangiectasia with large hepatic arteriovenous malformations", "standardized_diagnosis": [{"original_term": "High-output heart failure", "corrected_term": null, "code": "BD1Z", "title": "cardiac failure", "chapter": "Diseases of the circulatory system", "primary": true}, {"original_term": "Hereditary hemorrhagic telangiectasia", "corrected_term": null, "code": "LA90.00", "title": "Hereditary haemorrhagic telangiectasia", "chapter": "Diseases of the skin", "primary": false}, {"original_term": "Hepatic arteriovenous malformations", "corrected_term": null, "code": "DB34.1&XA95L3", "title": "Arteriovenous malformation of large intestine[Hepatic flexure]", "chapter": "Diseases of the digestive system", "primary": false}]}, "year": 2012, "classification": "Genetic and congenital disorders"}
+{"pmid": "22778574", "patient_info": {"basic_info": "71-year-old man initially visited pulmonary outpatient clinic for interstitial lung disease. Presented with sudden worsening of dyspnea and cough. Physical examination revealed inspiratory rales in both lung bases. Laboratory findings showed slightly decreased PaO2 (80.6 mm Hg) on arterial blood gas analysis, with no other significant abnormalities.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/22778574/fig/1.jpg"], "caption": "Chest CT.", "detailed_caption": "Chest CT showed lobulating contoured hypodense mass measuring 1.7 cm at junction of right atrium and IVC. Markedly dilated coronary sinus noted, with coronary sinus ostium not clearly identified.", "modalities": ["ct"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/22778574/fig/2.jpg"], "caption": "CT of the heart.", "detailed_caption": "Cardiac CT revealed dense calcification in bicuspid aortic valve with raphe", "modalities": ["ct"]}, {"type": "fig", "id": 1, "subfig": "C", "path": ["images/22778574/fig/3.jpg"], "caption": "CT of the heart.", "detailed_caption": "Cardiac CT showed no continuity between contrast-enhanced lumen of coronary sinus and right atrium, indicating atresia of coronary sinus ostium. Dilated coronary sinus continued to persistent left superior vena cava.", "modalities": ["ct"]}, {"type": "fig", "id": 1, "subfig": "D", "path": ["images/22778574/fig/4.jpg"], "caption": "Volume-rendered CT of the heart.", "detailed_caption": "D: Volume-rendered CT image demonstrates the dilated coronary sinus and cardiac veins in a 71-year-old man with atresia of the coronary sinus ostium, persistent left superior vena cava, and bicuspid aortic valve, acquired with multidetector computed tomography to evaluate complex intracardiac and vascular anatomy.", "modalities": ["ct"]}, {"type": "fig", "id": 1, "subfig": "E", "path": ["images/22778574/fig/5.jpg"], "caption": "Transesophageal echocardiography of the right atrium.", "detailed_caption": "Transesophageal echocardiography showed 2 x 1 cm oval echogenic mass attached to right atrial wall containing internal anechoic cystic lesion", "modalities": ["ultrasound"]}], "diagnosis": "Eustachian valve cyst associated with atresia of the coronary sinus ostium, persistent left superior vena cava (LSVC), and bicuspid aortic valve", "standardized_diagnosis": [{"original_term": "Eustachian valve cyst", "corrected_term": null, "code": "FB80.5", "title": "cyst of bone", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": true}, {"original_term": "Atresia of coronary sinus ostium", "corrected_term": null, "code": "LA86.Y", "title": "Coronary sinus orifice atresia or stenosis", "chapter": "Developmental anomalies", "primary": false}, {"original_term": "Persistent left superior vena cava", "corrected_term": null, "code": "LA86.0", "title": "Persistent left superior vena cava", "chapter": "Developmental anomalies", "primary": false}, {"original_term": "Bicuspid aortic valve", "corrected_term": null, "code": "LA8A.22", "title": "Bicuspid aortic valve", "chapter": "Developmental anomalies", "primary": false}]}, "year": 2012, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "23363500", "patient_info": {"basic_info": "A 62-year-old man with chronic hepatitis C virus infection and alcohol-induced cirrhosis presented with 10 days of epigastric pain and vomiting. Laboratory findings revealed an elevated serum lipase level of 6715 U per liter (reference range 0 to 160). On hospital day five, the patient developed nodules measuring 1 cm by 1 cm that became increasingly tender over the following days.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/23363500/fig/1.jpg"], "caption": "CT of the abdomen.", "detailed_caption": "Computed tomographic image showed peripancreatic inflammation and a large fluid collection in the right side of the abdomen thought to represent a pancreatic pseudocyst.", "modalities": ["ct"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/23363500/fig/2.jpg"], "caption": "Clinical photograph of the distal anterior thighs.", "detailed_caption": "Clinical photograph shows annular, pink, blanching areas on the distal anterior thighs with underlying subcutaneous nodules.", "modalities": ["clinical"]}, {"type": "fig", "id": 1, "subfig": "C", "path": ["images/23363500/fig/3.jpg"], "caption": "Skin biopsy, histopathological examination.", "detailed_caption": "Histopathological examination of skin-biopsy specimen showed lobular panniculitis with fat necrosis and focal saponification.", "modalities": ["pathology"]}], "diagnosis": "Pancreatic panniculitis as a complication of acute alcoholic pancreatitis", "standardized_diagnosis": [{"original_term": "Pancreatic panniculitis", "corrected_term": null, "code": "EF00.0", "title": "Pancreatic enzyme panniculitis", "chapter": "Diseases of the skin", "primary": false}, {"original_term": "Acute alcoholic pancreatitis", "corrected_term": null, "code": "DC31.1", "title": "Acute alcohol-induced pancreatitis", "chapter": "Diseases of the digestive system", "primary": true}]}, "year": 2013, "classification": "Gastrointestinal disorders"}
+{"pmid": "23340641", "patient_info": {"basic_info": "A 47-year-old man presents with a 1-year history of a mildly pruritic eruption on the trunk and extremities. He has no significant medical history and takes no medications. He denies any recent travel or close contact with persons or animals having a similar eruption. Review of systems is negative. On physical examination, sensation is intact over the affected skin. Examination of skin scrapings using potassium hydroxide is negative for hyphae, and there is no palpable lymphadenopathy.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23340641/fig/1.jpg"], "caption": "Clinical photograph of the skin at the time of clinical presentation.", "detailed_caption": "Figure 1 is a clinical photograph depicting hypopigmented patches with fine scaling on the right upper thigh of the patient. The image documents the presence of round hypopigmented lesions with fine cigarette-paper scaling, primarily located on the proximal arms, hips, thighs, lateral chest wall, and flanks on skin examination. The figure was acquired at the time of clinical presentation, and its content is a gross clinical view demonstrating the appearance and distribution of skin lesions in this patient. No laboratory, imaging, or histopathological modalities are represented, and no specific orientation or magnification applies to this gross clinical photograph.", "modalities": ["clinical"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/23340641/fig/2.jpg"], "caption": "Skin biopsy from the hip,", "detailed_caption": "Skin biopsy from patient's hip demonstrating atypical lymphocytes with prominent epidermotropism and focal pigment incontinence in the papillary dermis and at the dermoepidermal junction. The lymphocytes in the epidermis are larger than those in the dermis and may demonstrate cerebriform nuclei", "modalities": ["pathology"]}], "diagnosis": "Hypopigmented mycosis fungoides", "standardized_diagnosis": [{"original_term": "Hypopigmented mycosis fungoides", "corrected_term": null, "code": "2B01", "title": "Mycosis fungoides", "chapter": "Diseases of the skin", "primary": true}]}, "year": 2013, "classification": "Neoplastic diseases"}
+{"pmid": "22022195", "patient_info": {"basic_info": "A 29-year-old man presented to the hospital after several weeks of lumbar pain and fever up to 38°C. He had no significant past medical history. Physical examination revealed vital signs of blood pressure 130/80 mmHg, heart rate 121/min, and body temperature 38.2°C. There was no lymphadenopathy or hepatosplenomegaly detected on examination. Laboratory tests showed anemia with hematocrit 31.8% and hemoglobin 11.8 g/dL, white blood cell count 3.92 × 10³/μL, elevated liver enzymes with AST 78 IU/L and ALT 71 IU/L, and markedly elevated lactate dehydrogenase 1,591 IU/L. Serum cortisol level was 17.47 μg/dL at 8 AM and ACTH level was 12.1 pg/mL (normal range: 10-90). Ten days after admission, the patient developed pancytopenia with WBC 2.88 × 10³/μL, Hb 10.7 g/dL, and platelets 129 × 10³/μL. Bone marrow biopsy was negative for specific hematologic or malignant disorder.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/22022195/fig/1.jpg"], "caption": "CT scan of adrenal glands.", "detailed_caption": "CT scan reveals enlargement surrounding both adrenal glands, especially left side, and hyperattenuating fat suggesting inflammatory condition or hemorrhage.", "modalities": ["ct"]}, {"type": "fig", "id": 1, "subfig": "B, C", "path": ["images/22022195/fig/2.jpg"], "caption": "(B) Chest radiograph, posteroanterior view. (C) Chest radiograph, left decubitus view.", "detailed_caption": "On the chest radiographys, blunting of left costophrenic angle (arrowhead) on the posteroanterior view (B) and fluid shifting (arrowheads) in the left decubitus view (C) demonstrate the presence of pleural fluid in left pleural space. There is no abnormal consolidative or mass-like lesion in both lung fields.", "modalities": ["x-ray"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/22022195/fig/3.jpg"], "caption": "(A) Abdominal MRI, T1-weighted sequence, surrounding both adrenal glands. (B) Abdominal MRI, T2-weighted sequence, surrounding both adrenal glands.", "detailed_caption": "Magnetic resonance imaging (MRI) of the abdomen. The enlargement surrounding both adrenal glands which is aggravated compared with the previous CT scan. The isosignal intensity on T1-weighted image (A) and subtle low signal intensity on T2-weighted image (B) around both adrenal glands suggest adrenal hemorrhage or adrenalitis such as adrenal tuberculosis.", "modalities": ["mri"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/22022195/fig/4.jpg"], "caption": "(A) Follow-up CT scan of the abdomen. (B) Follow-up CT scan of the abdomen.", "detailed_caption": "Follow up CT scan of the abdomen. (A) The enlargement surrounding both adrenal glands with low attenuation which is more aggravated and extended to the retroperitoneal space compared with the previous CT scan and MRI. (B) The enlargement of multiple para-aortic lymph nodes which are not evident in the previous CT scan are detected on this study.", "modalities": ["ct"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/22022195/fig/5.jpg"], "caption": "PET/CT scan of the adrenal glands, retroperitoneal space, and cervical, mediastinal, and paraaortic lymph nodes.", "detailed_caption": "PET/CT scan reveals variable intensities of FDG uptake in both adrenal glands and surrounding retroperitoneal space, and in the cervical, mediastinal and paraaortic lymph nodes.", "modalities": ["ct", "pet/spect/nuclear"]}, {"type": "fig", "id": 5, "subfig": null, "path": ["images/22022195/fig/6.jpg"], "caption": "(A) Cervical lymph node, H&E staining, 100× magnification. (B) Cervical lymph node, H&E staining, 400× magnification. (C) Cervical lymph node, immunohistochemical staining for Ki-67 (MIB-1). (D) Cervical lymph node, immunohistochemical staining for CD45. (E) Cervical lymph node, immunohistochemical staining for CD30. (F) Cervical lymph node, immunohistochemical staining for CD56. (G) Cervical lymph node, immunohistochemical staining for CD20.", "detailed_caption": "Pathological finding of surgically excised cervical lymph node. (A) The lymph node is well capsulated with marked degree of necrosis (H&E, × 100), (B) Neoplastic infiltrate of relatively pleomorphic lymphoid cells with scanty cytoplasm, irregular nuclear contour, and prominent nucleoli (H&E, × 400). Immunohistochemical staining demonstrate positive nuclear staining with Ki-67 (MIB-1) (C), and positive for CD45 (D), CD30 (E) and CD56 (F), but negative CD20 activity (G).", "modalities": ["pathology"]}], "diagnosis": "Non-Hodgkin T-cell lymphoma, natural killer (NK)/T-cell, nasal type", "standardized_diagnosis": [{"original_term": "Non-Hodgkin T-cell lymphoma, natural killer (NK)/T-cell, nasal type", "corrected_term": null, "code": "2A90.6", "title": "Extranodal NK/T-cell lymphoma, nasal type", "chapter": "Neoplasms", "primary": true}]}, "year": 2011, "classification": "Neoplastic diseases"}
+{"pmid": "23462407", "patient_info": {"basic_info": "A 19-year-old man with no previous medical problems presented with a six-day history of breathlessness and left-sided chest pain that had started acutely. On examination, his respiratory rate was 22 breaths per minute with oxygen saturations of 95% on room air. The patient had no significant past medical history and no other baseline characteristics were reported.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23462407/fig/1.jpg"], "caption": "Chest radiograph.", "detailed_caption": "Initial chest radiograph showed a large left pneumothorax with slight mediastinal shift", "modalities": ["x-ray"]}], "diagnosis": "Large left pneumothorax", "standardized_diagnosis": [{"original_term": "Pneumothorax", "corrected_term": null, "code": "CB21.Z", "title": "Pneumothorax", "chapter": "Diseases of the respiratory system", "primary": true}]}, "year": 2013, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "23401446", "patient_info": {"basic_info": "66-year-old male who had total left knee replacement with a Triathlon's prosthesis in 2007 due to severe osteoarthrosis. Three years later, he presented with increasing left knee pain without trauma history. Initial laboratory values showed normal C-reactive protein and lactate dehydrogenase levels, with elevated erythrocyte sedimentation rate of 50mm in first hour. Patient's pain progressively worsened until limited mobility developed.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23401446/fig/1.jpg"], "caption": "Knee radiography.", "detailed_caption": "Knee radiography revealed distal femur fracture and osteolysis over the lateral femoral condyle", "modalities": ["x-ray"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/23401446/fig/2.jpg"], "caption": "(A) Bone tissue histology, low-power magnification. (B) Bone tissue histology, high-power magnification.", "detailed_caption": "Histologic analysis showed extensive infiltration by large lymphoid cells. Low-power magnification showed bone tissue with fibrosis and vascular proliferation of intertrabecular space near articular surface, with distorted infiltration by lymphoma cells in deeper regions. High-power magnification revealed large neoplastic lymphoid cells with round to ovoid nuclei, multiple nucleoli, and scant cytoplasm", "modalities": ["pathology"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/23401446/fig/3.jpg"], "caption": "Immunohistochemistry, Ki-67=80–90%.", "detailed_caption": "Immunohistochemistry showed lymphoma cells expressed CD79a, CD20, BCL2, and MUM1, but not CD10 or BCL6. No T-cell markers expressed. Ki-67 showed high proliferation index of 80-90%", "modalities": ["pathology"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/23401446/fig/4.jpg"], "caption": "Polymerase chain reaction (PCR) analysis for Epstein-Barr virus (EBV) DNA in lymphoma tissue, electrophoresis results.", "detailed_caption": "Figure 4 depicts a polymerase chain reaction (PCR) analysis for Epstein-Barr virus (EBV) DNA, showing electrophoresis results of PCR products from the case reported, with lanes 1 and 2 representing duplicates of the patient sample, lanes 3 and 4 as negative and positive controls respectively, and lane 5 as the molecular weight ladder; this figure confirms the presence of EBV DNA in the lymphoma tissue by PCR, as described and shown in the image and corresponding legend on page 3.", "modalities": ["lab", "electrophysiology"]}], "diagnosis": "Diffuse Large B-Cell Lymphoma (DLBCL) associated with chronic inflammation in the context of a knee prosthesis", "standardized_diagnosis": [{"original_term": "Diffuse large B-cell lymphoma", "corrected_term": null, "code": "2A81.Z", "title": "Diffuse large B-cell lymphomas", "chapter": "Neoplasms", "primary": true}, {"original_term": "Chronic inflammation", "corrected_term": null, "code": "CA09.0", "title": "Chronic mucous inflammation", "chapter": "Diseases of the respiratory system", "primary": false}]}, "year": 2013, "classification": "Neoplastic diseases"}
+{"pmid": "23390225", "patient_info": {"basic_info": "A 50-year-old man with a history of injecting drug use presented to the emergency department with reduced level of consciousness and left arm weakness following five days of swinging fever, rigors, and headache. His past medical history included hepatitis C infection, paroxysmal atrial fibrillation, and a recent hospital admission for discitis and psoas abscess. On examination, his temperature was 38.4°C but he was hemodynamically stable and alert. Physical findings included a soft early diastolic decrescendo murmur along the left sternal border, splinter hemorrhages, a small digital infarct of the left third toe, and mild upper motor neuron pattern weakness in the left arm. Laboratory investigations revealed normocytic anemia and leukocytosis, with blood cultures growing methicillin-resistant Staphylococcus aureus.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23390225/fig/1.jpg"], "caption": "12-lead electrocardiogram, Lead II rhythm strip, performed early in admission.", "detailed_caption": "Lead II rhythm strip on 12-lead electrocardiogram showing development of ECG changes early in admission.", "modalities": ["electrophysiology"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/23390225/fig/2.jpg"], "caption": "Lead II rhythm strip, PR interval approximately 400 ms.", "detailed_caption": "Lead II rhythm strip demonstrating first degree atrioventricular block with fixed prolongation of the PR interval to approximately 400 ms.", "modalities": ["electrophysiology"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/23390225/fig/3.jpg"], "caption": "(A) Transoesophageal echocardiography, aortic valve, long axis cross-sectional view. (B) Transoesophageal echocardiography, aortic valve, short axis basal view.", "detailed_caption": "Transoesophageal echocardiography images showing (A) long axis view of aortic valve in cross section and (B) short axis basal view through the trileaflet aortic valve. Blue arrows indicate a large vegetation, while the red arrow highlights the location of the posterior aortic root abscess that was identified at surgery but not clearly evident on the TOE study.", "modalities": ["ultrasound"]}], "diagnosis": "Infective endocarditis with an aortic root abscess", "standardized_diagnosis": [{"original_term": "Infective endocarditis", "corrected_term": null, "code": "BB40", "title": "infective endocarditis NOS", "chapter": "Diseases of the circulatory system", "primary": true}, {"original_term": "Aortic root abscess", "corrected_term": null, "code": "BD52", "title": "Aortic root abscess", "chapter": "Diseases of the circulatory system", "primary": false}]}, "year": 2013, "classification": "Infectious and immunologic disorders"}
+{"pmid": "23449674", "patient_info": {"basic_info": "A 37-year-old man presented with weakness, irritability, poor concentration. Over the previous three months, he experienced craving for sweets, episodes of weakness sometimes associated with foggy sensorium, feeling cold, clammy, and fatigued during episodes. His wife noticed strange behavior and memory loss for long periods. He gained 30 lb (13 kg) during this time from drinking large amounts of cola for symptom relief. Symptoms recurred when he had not eaten for several hours, particularly at night and in the early morning. Several days prior, he presented to another hospital with similar symptoms. His medical history was unremarkable except for umbilical hernia repair and back surgery 10 years earlier. He took no prescription or over-the-counter drugs, did not smoke, drank beer socially, and denied illicit drug use. Family history was positive for diabetes but he had not been diagnosed with diabetes. On examination, his blood pressure was 124/76 mm Hg, pulse 94 beats/min, respiratory rate 18 breaths/min. He was confused, cold, and clammy. Examination of neurological system, skin, joints, cardiovascular, respiratory, and abdominal systems was unremarkable. Complete blood count, electrolytes, urea, creatinine, and liver panel were normal. Glycated hemoglobin was 5% (31 mmol/mol). Short synacthen test ruled out adrenal insufficiency. Serum parathyroid hormone was 4.6 pmol/L (normal range 1.6-7.2) and serum calcium was normal. Serum prolactin was 21.81 μg/L (reference range 2.60-18.10). Follicle stimulating hormone, luteinizing hormone, and thyroid stimulating hormone concentrations were all in the reference range. Magnetic resonance cholangiopancreatography showed a 1.8 × 1.3 cm hypervascular slightly exophytic lesion arising anteriorly between the head and neck of the pancreas.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/23449674/tab/1.jpg"], "caption": "Laboratory test results during spontaneous hypoglycemia.", "detailed_caption": "Laboratory test results during spontaneous hypoglycemia showed glucose 2.4 mmol/L (reference 3.6-11), elevated C peptide 3.214 mmol/L (reference 0.298-1.324), markedly elevated insulin 574.0 pmol/L (reference 43.0-194.0), and β-hydroxybutyrate 50 μmol/L (reference 20-420), confirming endogenous hyperinsulinemic hypoglycemia.", "modalities": ["lab"]}], "diagnosis": "Insulinoma (functioning islet cell tumor confirmed by histology as well differentiated islet cell tumor)", "standardized_diagnosis": [{"original_term": "Insulinoma", "corrected_term": null, "code": "2C10.1", "title": "Insulinoma", "chapter": "Neoplasms", "primary": true}, {"original_term": "Functioning islet cell tumor", "corrected_term": null, "code": "2E92.9", "title": "islet cell neoplasm", "chapter": "Neoplasms", "primary": false}, {"original_term": "Well differentiated islet cell tumor", "corrected_term": null, "code": "2E92.9", "title": "islet cell neoplasm", "chapter": "Neoplasms", "primary": false}]}, "year": 2013, "classification": "Endocrine and metabolic disorders"}
+{"pmid": "22977456", "patient_info": {"basic_info": "55-year-old male initially presented with dyspnea on exertion (DOE) and dizziness. Six months prior, he showed severe global hypokinesia of left ventricle with systolic dysfunction (LVEF 33%). At current admission, patient presented with worsening DOE (NYHA class III) and intermittent dizziness over preceding 15 days. 24-hour Holter monitoring showed maximum RR interval of 4.7 seconds. Echocardiogram showed severe LV dysfunction (LVEF 34.4%), dyskinetic basal septum, basilar cardiac akinesia, and enlarged severely dysfunctional RV without pulmonary hypertension (RVSP 27.64 mm Hg). ACE level was within normal range (27.5 IU/L).", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/22977456/fig/1.jpg"], "caption": "ECG, heart rate 27 beats per minute.", "detailed_caption": "ECG showing complete atrioventricular block with heart rate of 27 beats per minute", "modalities": ["electrophysiology"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/22977456/fig/2.jpg"], "caption": "Echocardiogram on admission, pulmonary artery systolic pressure 27.64 mm Hg.", "detailed_caption": "B: The echocardiogram (ultrasound) image on admission demonstrates marked enlargement of the right ventricle and right atrium, in addition to severe right ventricular dysfunction, without evidence of pulmonary hypertension, as indicated by a pulmonary artery systolic pressure of 27.64 mm Hg.", "modalities": ["ultrasound"]}, {"type": "fig", "id": 1, "subfig": "C", "path": ["images/22977456/fig/3.jpg"], "caption": "Chest X-ray, cardiothoracic ratio 55%.", "detailed_caption": "Chest X-ray showing mild cardiomegaly (cardiothoracic ratio 55%), no hilar lymph node enlargement", "modalities": ["x-ray"]}, {"type": "fig", "id": 1, "subfig": "D", "path": ["images/22977456/fig/4.jpg"], "caption": "Cardiac MRI with gadolinium-DTPA enhancement.", "detailed_caption": "Gadolinium-DTPA-enhanced cardiac MRI showing delayed hyper-enhancement of entire RV wall and subepicardial (apical) or transmural (apical, basal) portions of the left ventricle", "modalities": ["mri"]}, {"type": "fig", "id": 1, "subfig": "E", "path": ["images/22977456/fig/5.jpg"], "caption": "ECG performed during endomyocardial biopsy.", "detailed_caption": "ECG showing sustained ventricular tachycardia during endomyocardial biopsy", "modalities": ["electrophysiology", "pathology"]}, {"type": "fig", "id": 2, "subfig": "A,B", "path": ["images/22977456/fig/6.jpg"], "caption": "(A) Coronary CT angiography performed six months prior, right paratracheal lymph node 17.27×8.35 mm. (B) Coronary CT angiography performed six months prior, subcarinal lymph node 18.63×11.97 mm.", "detailed_caption": "A and B: right paratracheal (17.27×8.35 mm) and subcarinal (18.63×11.97 mm) lymph node enlargement discovered incidentally in coronary CT angiography six months prior. ", "modalities": ["ct", "angiography"]}, {"type": "fig", "id": 2, "subfig": "C,D", "path": ["images/22977456/fig/7.jpg"], "caption": "(C, D) Lymph node aspirate.", "detailed_caption": "C and D: lymph node aspirate: noncaseating epitheloid granulomata with giant cells. ", "modalities": ["pathology"]}], "diagnosis": "Cardiac sarcoidosis", "standardized_diagnosis": [{"original_term": "Cardiac sarcoidosis", "corrected_term": null, "code": "4B20.Z", "title": "Sarcoidosis", "chapter": "Diseases of the immune system", "primary": true}]}, "year": 2012, "classification": "Infectious and immunologic disorders"}
+{"pmid": "23374481", "patient_info": {"basic_info": "A 1-month-old baby girl was referred in May 2011 for management of congenital corneal opacity. She was born of a non-consanguineous marriage with no significant family history. She had a history of feeding difficulty and was diagnosed to have cleft palate at birth. She was found to have raised intraocular pressure during initial examination under anesthesia. Physical examination revealed cleft palate, glossoptosis, and auditory impairment. Examination under anesthesia showed diffuse corneal stromal oedema with central Haab's striae, horizontal corneal diameter of 14 mm in both eyes, and IOP of 30 and 28 mm Hg in the right and left eye, respectively. Gonioscopy showed anterior high insertion of the iris. Posterior segment examination was unremarkable. Refraction was approximately -14 dioptre sphere with 27.5 mm axial length on ultrasound B-scan in both eyes. Orthopaedic assessment showed mild spondyloepiphyseal dysplasia. Genetic assessment showed normal chromosomal pattern.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23374481/fig/1.jpg"], "caption": "(A) CT scan of the head with 3D reconstruction. (B) CT scan of the head with 3D reconstruction.", "detailed_caption": "CT scan (head) with 3D reconstruction showing (A) brachycephaly and pseudoproptosis; (B) a fl at nasal bridge, anteverted nostrils, and micrognathia.", "modalities": ["ct"]}], "diagnosis": "Stickler syndrome with Pierre Robin sequence and bilateral congenital glaucoma", "standardized_diagnosis": [{"original_term": "Stickler syndrome", "corrected_term": null, "code": "LD2F.1Y", "title": "Stickler syndrome", "chapter": "Developmental anomalies", "primary": true}, {"original_term": "Pierre Robin sequence", "corrected_term": null, "code": "LA56", "title": "Pierre Robin sequence", "chapter": "Developmental anomalies", "primary": false}, {"original_term": "Bilateral congenital glaucoma", "corrected_term": null, "code": "9C61.4Z&XK9J", "title": "congenital glaucoma NOS[Bilateral]", "chapter": "Developmental anomalies", "primary": false}]}, "year": 2013, "classification": "Genetic and congenital disorders"}
+{"pmid": "23182990", "patient_info": {"basic_info": "A 53-year-old white man with an approximately 2-year history of Sézary syndrome (SS) and previous allogeneic stem-cell transplantation presented with a new right-chest plaque that developed over the previous 4 months. The plaque was situated directly over a chemotherapy port (SlimPort MRI Ultra-Low Profile port containing a silicone catheter and polyurethane components) that had been implanted 13 months earlier. He described steady plaque enlargement above his port over the previous 4 months. Two years before the chest plaque developed, the patient was first evaluated for an erythematous, pruritic rash involving the face and torso. He had lymphadenopathy of the head and neck. Peripheral T-cell lymphoma not otherwise specified was initially diagnosed following biopsy of an enlarged inguinal lymph node. Peripheral blood flow cytometry after CHOP therapy revealed a markedly elevated CD4:CD8 ratio (45:1) with expanded CD4+CD26- compartment. The patient became erythrodermic 1 month after CHOP and was diagnosed with SS by International Society of Cutaneous Lymphoma classification criteria. Approximately 4 months post-transplantation, he first noticed a solitary cutaneous lesion over the implanted port.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23182990/fig/1.jpg"], "caption": "Clinical photograph of the right chest.", "detailed_caption": "Shows a 3.5 cm × 3.5 cm pink-red round plaque with arcuate periphery that is firm and nonscaly, with centrally overlying fine white scale, located directly over the chemotherapy port on the right chest", "modalities": ["clinical"]}, {"type": "fig", "id": 2, "subfig": "A", "path": ["images/23182990/fig/2.jpg"], "caption": "(A) Skin biopsy at initial presentation, H&E staining.", "detailed_caption": "A: On page 2, subfigure A of Figure 2 shows a skin biopsy from initial presentation stained with hematoxylin and eosin (H&E), displaying a patchy small lymphocytic infiltrate predominantly in the superficial dermis.", "modalities": ["pathology"]}, {"type": "fig", "id": 2, "subfig": "B", "path": ["images/23182990/fig/3.jpg"], "caption": "Immunohistochemistry of skin biopsy, CD3 staining.", "detailed_caption": "Immunohistochemistry showing CD3 expression in the initial skin biopsy T cells", "modalities": ["pathology"]}, {"type": "fig", "id": 2, "subfig": "C", "path": ["images/23182990/fig/4.jpg"], "caption": "Immunohistochemistry of skin biopsy, CD7 staining, Ki-67=15%.", "detailed_caption": "Immunohistochemistry demonstrating loss of T-cell marker CD7 in the initial skin biopsy, with Ki-67 nuclear staining positive on approximately 15% of cells", "modalities": ["pathology"]}, {"type": "fig", "id": 2, "subfig": "D", "path": ["images/23182990/fig/5.jpg"], "caption": "Skin biopsy of the chest, no staining or magnification level specified.", "detailed_caption": "Skin biopsy of the chest plaque demonstrates a dense lymphoid infiltrate composed of atypical large cells in the dermis with prominent overlying epidermotropism", "modalities": ["pathology"]}, {"type": "fig", "id": 2, "subfig": "E", "path": ["images/23182990/fig/6.jpg"], "caption": "Immunohistochemistry of chest plaque, CD30 staining.", "detailed_caption": "Immunohistochemistry of the chest plaque showing CD30 expression by the majority of the large cells, with approximately 50% of the infiltrate composed of CD30+ large-cell T lymphocytes", "modalities": ["pathology"]}], "diagnosis": "Large cell transformation (LCT) of Sézary syndrome with CD30+ large T-cell cutaneous lymphoma", "standardized_diagnosis": [{"original_term": "Sézary syndrome", "corrected_term": null, "code": "2B02", "title": "Sézary syndrome", "chapter": "Diseases of the skin", "primary": false}, {"original_term": "Large cell transformation of Sézary syndrome", "corrected_term": null, "code": "2B02", "title": "Sézary syndrome", "chapter": "Diseases of the skin", "primary": true}, {"original_term": "CD30+ large T-cell cutaneous lymphoma", "corrected_term": null, "code": "2B03.0", "title": "primary cutaneous CD30+ large T-cell lymphoma", "chapter": "Diseases of the skin", "primary": false}]}, "year": 2013, "classification": "Neoplastic diseases"}
+{"pmid": "23439755", "patient_info": {"basic_info": "A 51-year-old African American man presented to the emergency department with a primary complaint of confusion lasting one week, brought by his mother. He was otherwise healthy with no significant past medical history and worked as a long-distance truck driver. He had experienced flu-like symptoms three months prior to admission but had recovered completely. He had a 40 pack-year smoking history and consumed two to three beers per week for approximately 30 years. He denied promiscuous sexual history or sexually transmitted infections. Family history was significant for prostate cancer in his father and hypertension in his mother, with no history of leukemia, lymphoma, or bleeding disorders. Physical examination revealed marked splenomegaly extending 10 cm below the umbilicus, hepatomegaly with liver palpable 2 cm below the costal margin, two circumscribed skin nodules measuring approximately 2 cm in diameter on the anterior surface of his left forearm, and expressive aphasia on neurologic examination. There was no peripheral lymphadenopathy. Laboratory findings showed leukocytosis of 60,000/μL with 3% lymphocytes, 90% atypical lymphocytes, 6% segmented neutrophils, and 1% monocytes, anemia of 8.4 g/dL, and thrombocytopenia of 45,000/μL. Flow cytometry analysis revealed abnormal lymphocytes expressing monoclonal lambda light chains, CD19, CD20, CD22, CD11c, CD25, FMC7, and CD103, but negative for CD5, CD10, and CD23. The complete metabolic panel was normal, and extensive laboratory work-up for infectious etiology including HIV, tuberculosis, and fungal organisms was negative.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23439755/fig/1.jpg"], "caption": "Peripheral blood smear.", "detailed_caption": "Peripheral blood smear shows immature lymphocytes with delicate hairy cytoplasmic projections characteristic of hairy cell leukemia.", "modalities": ["lab"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/23439755/fig/2.jpg"], "caption": "CT of the head with contrast, axial view.", "detailed_caption": "Axial computed tomography scan of the head with contrast reveals numerous high-attenuation areas with surrounding vasogenic edema in the right frontal, left temporoparietal, and bilateral posterior parietal areas.", "modalities": ["ct"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/23439755/fig/3.jpg"], "caption": "H&E stained histopathological section of brain parenchyma from left frontal lesion biopsy, performed one week after hospital admission.", "detailed_caption": "Figure 3 shows a hematoxylin and eosin (H&E) stained histopathological section of brain parenchyma obtained via biopsy from the left frontal lesion one week after hospital admission, revealing intracerebral hemorrhage with the presence of abnormal lymphocytes consistent with leukemic infiltration.", "modalities": ["pathology"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/23439755/fig/4.jpg"], "caption": "(A) Brain biopsy, immunohistochemistry for tartrate-resistant acid phosphatase. (B) Brain biopsy, immunohistochemistry for DBA44.", "detailed_caption": "Brain biopsy specimen shows abnormal lymphocytes that are immunoreactive for tartrate-resistant acid phosphatase (Subfig: A) and DBA44 (Subfig: B), confirming hairy cell leukemia involvement of brain parenchyma.", "modalities": ["pathology"]}], "diagnosis": "Hairy cell leukemia with brain parenchymal involvement", "standardized_diagnosis": [{"original_term": "Hairy cell leukemia", "corrected_term": null, "code": "2A82.2", "title": "Hairy-cell leukaemia", "chapter": "Neoplasms", "primary": true}, {"original_term": "Leukemic involvement of brain parenchyma", "corrected_term": null, "code": "8E7Y", "title": "disorder of brain NOS", "chapter": "Diseases of the nervous system", "primary": false}]}, "year": 2013, "classification": "Neoplastic diseases"}
+{"pmid": "23483675", "patient_info": {"basic_info": "6-year-old Korean girl with normal stature and development. No family history of shortened digits. Normal prenatal and birth history. Presented with shortening of second and third digits on both hands. Physical examination showed short first, second and third digits, with fourth digit being longest and appearing normal. Mild clinodactyly present in fifth digit of both hands. Normal range of motion in all joints. Feet were unaffected. No other skeletal or non-skeletal dysmorphisms.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23483675/fig/1.jpg"], "caption": "Radiographs of both hands acquired at age 5 years and 7 months.", "detailed_caption": "Figure 1 presents radiographs of both hands acquired at age 5 years and 7 months, demonstrating bilateral shortening of the first metacarpals with large pseudoepiphyses and shortened middle phalanges of the second, third, and fifth fingers, accompanied by clinodactyly of the fifth fingers; the fourth fingers remain unaffected, the proximal phalanges of both third fingers are shortened, and segmentation anomalies with accessory ossification and an accessory ivory dense epiphysis at the base of the distal phalanx of the left third finger are noted, along with ulnar deviation of the left second finger, radial curvature of the third finger, and retarded carpal bone age.", "modalities": ["x-ray"]}], "diagnosis": "Brachydactyly type C (BDC) confirmed by molecular genetic analysis showing GDF5 gene mutation c.1312C>T (p.Arg438Cys)", "standardized_diagnosis": [{"original_term": "Brachydactyly type C", "corrected_term": null, "code": "LD26.1", "title": "Brachydactyly type C", "chapter": "Developmental anomalies", "primary": true}]}, "year": 2013, "classification": "Genetic and congenital disorders"}
+{"pmid": "23447355", "patient_info": {"basic_info": "A 55-year-old man presented to the emergency department with a two-day history of progressive pain in the left lower quadrant. On physical examination, he had a temperature of 38°C and marked tenderness in the left lower quadrant with some tenderness in the suprapubic area. No rebound tenderness was present. Laboratory testing revealed a C-reactive protein concentration of 25 mg/L and a white cell count of 13.8 × 10^9/L.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23447355/fig/1.jpg"], "caption": "Graded compression ultrasound of the sigmoid colon.", "detailed_caption": "Graded compression ultrasound image showing compressed sigmoid colon loop with diverticulum and inflamed pericolic fat, consistent with sigmoid diverticulitis.", "modalities": ["ultrasound"]}], "diagnosis": "Sigmoid diverticulitis", "standardized_diagnosis": [{"original_term": "Sigmoid diverticulitis", "corrected_term": null, "code": "DC82.Z&XA8YJ9", "title": "Diverticulum of sigmoid", "chapter": "Diseases of the digestive system", "primary": true}]}, "year": 2013, "classification": "Gastrointestinal disorders"}
+{"pmid": "23407770", "patient_info": {"basic_info": "An 18-year-old girl presented to the emergency room in a post-resuscitated state after experiencing cardiac arrest at a local hospital where she had been admitted for paralysis and paresthesia of lower extremities that began 2 days prior. She had a 7-month history of recurrent periodic paralysis affecting both lower extremities, typically lasting 2-3 days per episode and aggravated by exercise. At the time of cardiac arrest, her serum potassium had dropped from an initial level of 3.0 mmol/L to 1.8 mmol/L. Upon arrival, she was semicomatous with frequent tachycardia episodes at 200 beats per minute. Physical examination revealed characteristic dysmorphic features including short stature (149 cm, 1.5% percentile for age), broad forehead, and small jaw. There was no family history of cardiac disease. Neurological examination showed complete paralysis with grade 0 strength in all extremities and absent deep tendon reflexes in biceps, triceps, brachioradialis, knee, and ankle.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23407770/fig/1.jpg"], "caption": "(A) Clinical photograph of the right fifth finger. (B) Clinical photograph of the left fifth finger.", "detailed_caption": "Figure 1 consists of clinical photographs demonstrating characteristic hand deformities: A shows the patient’s right fifth finger with clinodactyly, indicated by an arrow, and B shows the patient’s mother’s left fifth finger with similar clinodactyly, also marked by an arrow; both images depict the anatomical feature of fifth-digit curvature as a dysmorphic trait associated with Andersen-Tawil syndrome, without reference to imaging modalities, staining, or magnification, and the anatomical site examined is the hand, specifically the fifth finger.", "modalities": ["clinical"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/23407770/fig/2.jpg"], "caption": "12-lead electrocardiogram, QT interval=657 ms.", "detailed_caption": "Initial 12-lead electrocardiogram showing ventricular bigeminy with two different QRS morphologies and prolonged QT interval of 657 ms with frequent premature ventricular contractions", "modalities": ["electrophysiology"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/23407770/fig/3.jpg"], "caption": "12-lead electrocardiogram during tachycardia episodes, cycle length 360 ms.", "detailed_caption": "12-lead electrocardiogram during tachycardia episodes showing alternation between wide QRS tachycardia and narrow QRS tachycardia with the same cycle length of 360 ms", "modalities": ["electrophysiology"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/23407770/fig/4.jpg"], "caption": "12-lead electrocardiogram performed after cardioversion.", "detailed_caption": "12-lead electrocardiogram after cardioversion showing prolonged QT interval with prominent U wave and right bundle branch block pattern, with premature ventricular contractions occurring at the end of T waves consistent with R-on-T phenomenon", "modalities": ["electrophysiology"]}], "diagnosis": "Andersen-Tawil syndrome (ATS)", "standardized_diagnosis": [{"original_term": "Andersen-Tawil syndrome", "corrected_term": null, "code": "BC65.0", "title": "Andersen-Tawil syndrome", "chapter": "Diseases of the circulatory system", "primary": true}]}, "year": 2013, "classification": "Genetic and congenital disorders"}
+{"pmid": "23553973", "patient_info": {"basic_info": "A 38-year-old woman presented with a three-day history of fever, generalized myalgia and arthralgia, and the sensation of difficulty when breathing in. She had poorly localized discomfort in the left diaphragmatic region on deep inspiration and loose stools over the preceding three days. Three days before presentation she had returned from a three-week trip to Western Australia, and 18 months earlier she had traveled to Vietnam. On examination she appeared well but was febrile at 38.0°C and tachypnoeic at 22 breaths/min, with all other observations normal. Examination of all other systems was unremarkable. Blood tests showed severe neutrophilia (18.9 × 10⁹/L; reference range 2.0-8.1), raised C reactive protein (354 mg/L; reference value <10), and normal renal and liver biochemistry. Chest radiography and urinalysis were normal. Blood cultures taken at presentation were negative.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23553973/fig/1.jpg"], "caption": "CT of the chest, abdomen, and pelvis with intravenous contrast.", "detailed_caption": "Computed tomography of the chest, abdomen, and pelvis with intravenous contrast showed a rim enhancing abscess in the left lobe of the liver and a filling defect in the portal vein consistent with portal vein thrombosis.", "modalities": ["ct"]}], "diagnosis": "Amoebic liver abscess", "standardized_diagnosis": [{"original_term": "Amoebic liver abscess", "corrected_term": null, "code": "1A36.10", "title": "Amoebic liver abscess", "chapter": "Diseases of the digestive system", "primary": true}]}, "year": 2013, "classification": "Infectious and immunologic disorders"}
+{"pmid": "23514309", "patient_info": {"basic_info": "A 58-year-old woman presented in 1998 with frequent episodes of diarrhea, a bleeding peptic ulcer, and severe weight loss. Computed tomographic scanning revealed liver processes with cells that contained chromogranin A and synaptophysin but did not contain insulin, glucagon, somatostatin, gastrin, vasoactive intestinal polypeptide, or serotonin. In 2002, the patient had recurrent gallstone attacks with multiple stones in a contracted but otherwise empty gallbladder, and a bleeding duodenal ulcer was detected. Octreotide scanning in late 2002 showed a tumor in the pancreas. Blood samples obtained from 1998 through 2006 showed that concentrations of insulin, glucagon, gastrin, and substance P in plasma were always normal, somatostatin level was slightly elevated on four occasions, levels of pancreatic polypeptide increased after 2004, and levels of vasoactive intestinal polypeptide were moderately elevated from December 1998 through February 1999.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23514309/fig/1.jpg"], "caption": "Graph showing plasma cholecystokinin concentrations measured by radioimmunoassay from 1998 to 2006, and body weight measurements over the same period.", "detailed_caption": "C: Immunohistochemical staining of formalin-fixed, paraffin-embedded tissue from hepatic metastases demonstrates that all tumor cells contain cholecystokinin (CCK), as shown by diffuse positive CCK-specific immunoreactivity in the metastatic lesions.", "modalities": ["lab"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/23514309/fig/2.jpg"], "caption": "Formalin-fixed, paraffin-embedded pancreatic endocrine tumor tissue, immunostaining with CCK-specific antiserum.", "detailed_caption": "shows cells from formalin-fixed, paraffin-embedded tissue obtained from the pancreatic endocrine tumor, which were incubated with a CCK-specific antiserum. Immunostaining showed a small focus (brown) in the otherwise CCK-negative tumor. ", "modalities": ["pathology"]}, {"type": "fig", "id": 1, "subfig": "C", "path": ["images/23514309/fig/3.jpg"], "caption": "Immunostaining of hepatic metastases for CCK.", "detailed_caption": "Staining of hepatic metastases showed that all cells contained CCK.", "modalities": ["pathology"]}], "diagnosis": "CCKoma syndrome from a neuroendocrine tumor with cholecystokinin secretion", "standardized_diagnosis": [{"original_term": "CCKoma syndrome", "corrected_term": null, "code": "DA90.0", "title": "THE - [tricho-hepato-enteric] syndrome", "chapter": "Diseases of the digestive system", "primary": true}, {"original_term": "Neuroendocrine tumor", "corrected_term": null, "code": "2D4Y", "title": "Neuroendocrine tumour NOS", "chapter": "Neoplasms", "primary": false}]}, "year": 2013, "classification": "Gastrointestinal disorders"}
+{"pmid": "23445097", "patient_info": {"basic_info": "A 77-year-old retired nurse practitioner woman presents to the outpatient neurology clinic with chronic thoracic pain. She has experienced constant pain under her left breast since adolescence that has worsened over time and spread horizontally to involve a band on the entire left side of the chest. She rates the thoracic pain severity from 4 to 9 on a scale of 0 to 10, with improvement when lying down and no alteration with coughing, straining, or palpation. She reports occasional left groin and sacral pain, intermittent numbness in the left leg, bilateral foot pain, and episodic fecal and urinary incontinence requiring protective undergarments. Her medical history includes severe bilateral hearing loss with hearing aids, mild hypoproliferative anemia, hypertension, hypothyroidism, hypercholesterolemia, gastritis, attention deficit-hyperactivity disorder, mild chronic obstructive pulmonary disease, dysthymia, and severe fatigue. During childhood, she had prolonged streptococcal pharyngitis illness. Her medications include metoprolol, levothyroxine, lisinopril, omeprazole, dextroamphetamine-amphetamine, desvenlafaxine, clonazepam, atorvastatin, aspirin, and multiple vitamins. She is 178 cm tall, weighs 67 kg, and has arachnodactyly with normal joint flexibility. Physical examination reveals mild allodynia over the left thorax provoked by touch, normal sensation on pin-prick testing, absent Achilles' tendon reflexes with other reflexes normal, slow ambulation without assistance, and inability to walk with tandem gait.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23445097/fig/1.jpg"], "caption": "(A) Thoracic spine MRI, sagittal view, T2-weighted. (B) Thoracic spine MRI, axial view, T2-weighted. (C) Lumbar spine MRI, sagittal view, T2-weighted. (D) Thoracic spine CT myelogram, sagittal view. (E) Thoracic spine CT myelogram, axial view.", "detailed_caption": "T₂-Weighted MRI Images and CT Myelogram of the Thoracic and Lumbar Spine. A sagittal MRI image of the thoracic spine (Panel A) shows exaggerated thoracic kyphosis, as well as a Tarlov cyst in the left T7–T8 neural foramen along the left T7 nerve roots (arrow). An axial view shows the same Tarlov cyst (Panel B, arrow) and a smaller cyst along the right T7 nerve root (arrowhead). A subtle hypointense focus in this right Tarlov cyst most likely represents the actual nerve root; the left T7 nerve root is not clearly visualized in this image. In comparison to the MRI images, a CT myelogram of the thoracic spine in the sagittal (Panel D) and axial (Panel E) views shows contrast enhancement of the Tarlov cyst along the left T7 nerve roots (Panels D and E, arrows), indicating open communication between the cyst and the subdural compartment. The smaller Tarlov cyst along the right T7 nerve root (Panel E, arrowhead) does not enhance and is not clearly in open communication with the subdural compartment. A sagittal MRI image of the lumbar spine (Panel C) reveals multiple Tarlov cysts involving lower thoracic and upper sacral nerve roots (arrows).", "modalities": ["mri", "ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/23445097/fig/2.jpg"], "caption": "(A) Gross photograph of the spine obtained at autopsy. (B, D) Gross photographs of axial sections of the spine at the T11–T12 intervertebral space. (C) Gross photograph of an axial section of the spine at S1–S2. (E) Gross photograph of the T7–T8 intervertebral space. (F) Photomicrograph of T10–T11, hematoxylin and eosin staining, low magnification. (G) Photomicrograph of T10–T11, hematoxylin and eosin staining, high magnification. (H) Photomicrograph of T7–T8, hematoxylin and eosin staining.", "detailed_caption": "Characteristics of Tarlov Cysts. A gross photograph (Panel A) shows the extent of the spine (approximately 60 cm) that was removed at autopsy. Representative gross photographs of axial sections of the spine are shown at the T11–T12 intervertebral space (Panels B and D, arrows) and at S1–S2 (Panel C, arrows). Both show thin - walled cysts containing clear fluid. A gross photograph of the T7–T8 intervertebral space shows that the lining of the cyst that had been drained and injected with fibrin glue (Panel E, arrow) has a more opaque appearance than do the cysts at T10–T11. Photomicrographs at T10–T11 show thin - walled cysts (Panel F, low magnification; hematoxylin and eosin) sitting within the nerve roots (Panel G, high magnification; hematoxylin and eosin) just proximal to the dorsal - root ganglia, with spinal nerve fibers passing through them. A photomicrograph of the cyst at T7–T8 that had been injected with fibrin glue (Panel H, hematoxylin and eosin) shows increased septations in the cyst as compared with the other cysts but no evidence of inflammation. ", "modalities": ["pathology"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/23445097/fig/3.jpg"], "caption": "(A) Photomicrograph of the cyst wall at T10, high-power magnification. (B) Immunostaining for GLUT1. (C) Immunostaining for neurofilament.", "detailed_caption": "A high-power photomicrograph of the cyst wall at T10 (Panel A) shows a thin layer of lining cells with the appearance of perineurial cells (arrows). Arrowheads show nerve twigs in the cyst wall. The cells that line the cyst stain for GLUT1 (Panel B), a marker of perineurial cells, confirming that the cells of the cyst lining are perineurial cells. There is a perispinal soft-tissue infiltrate of leukemic cells that are also GLUT1-positive (Panel B, top). Neurofilament immunostaining (Panel C) highlights the nerve twigs in the cyst wall.", "modalities": ["pathology"]}], "diagnosis": "Thoracic radicular pain caused by Tarlov (perineurial) cysts", "standardized_diagnosis": [{"original_term": "Thoracic radicular pain", "corrected_term": null, "code": "8B93.Y", "title": "thorax spinal pain with radicular and visceral pain", "chapter": "Diseases of the nervous system", "primary": true}, {"original_term": "Tarlov cyst", "corrected_term": null, "code": "8D6Y", "title": "Tarlov cyst", "chapter": "Diseases of the nervous system", "primary": false}]}, "year": 2013, "classification": "Neurological disorders"}
+{"pmid": "23518275", "patient_info": {"basic_info": "A 48-year-old man presented to the accident department with a three-day history of right ear pain, yellow ear discharge, and mild hearing loss. He had seen his general practitioner two days before and had been prescribed oral antibiotics and analgesia, but over the past 24 hours the pain had worsened significantly and he was feeling generally unwell. He had no relevant medical history, was taking no regular drugs, and had no known allergies. On examination, he was afebrile and the tympanic membrane was partly visualized and appeared normal. The external auditory canal was about 80% stenosed with discharge within the canal. He had no signs of meningism, no evidence of mastoiditis, and no cervical lymphadenopathy. Blood tests showed elevated inflammatory markers with a white cell count of 12 × 10⁹/L (reference range 4-11 × 10⁹) and C reactive protein of 100 mg/L (<5 mg/L).", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23518275/fig/1.jpg"], "caption": "Clinical photograph showing oedema of the pinna (A), oedema of the external auditory canal (B), evidence of ear discharge (C), and cellulitis surrounding the pinna (D)", "detailed_caption": "Clinical photograph showing oedema of the pinna (A), oedema of the external auditory canal (B), evidence of ear discharge (C), and cellulitis surrounding the pinna (D)", "modalities": ["clinical"]}], "diagnosis": "Right otitis externa with cellulitis of the pinna and surrounding soft tissue", "standardized_diagnosis": [{"original_term": "Otitis externa", "corrected_term": null, "code": "AA3Z", "title": "Otitis externa, unspecified", "chapter": "Diseases of the ear or mastoid process", "primary": true}, {"original_term": "Cellulitis of the pinna", "corrected_term": null, "code": "AA01&XA4E71", "title": "Cellulitis of pinna", "chapter": "Diseases of the ear or mastoid process", "primary": false}, {"original_term": "Soft tissue cellulitis", "corrected_term": null, "code": "DA01.30", "title": "Cellulitis or abscess of soft tissues of the mouth", "chapter": "Diseases of the digestive system", "primary": false}]}, "year": 2013, "classification": "Infectious and immunologic disorders"}
+{"pmid": "23530099", "patient_info": {"basic_info": "A 66-year-old man presented with a 4 to 5-month history of fever, chills, drenching night sweats, and unintentional 35-kg weight loss. He had previously undergone work-up for fever of unknown origin including evaluation for infectious causes such as tuberculosis, typhoid, and brucellosis, but these were not revealing. On physical examination, his spleen was palpable but no adenopathy was detected. Blood tests revealed anemia with hemoglobin of 9.0 g/dL (normal 13.0-18.0 g/dL), microcytosis with mean corpuscular volume of 75 fl (normal 80.0-94.0 fl), normal platelet count of 354,000/μL, and elevated international normalized ratio of 1.30 (normal 0.85-1.20). His serum ferritin level was significantly elevated at 1,796.0 ng/mL (normal 25-310 ng/mL).", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/23530099/fig/1.jpg"], "caption": "Endoscopic ultrasound of the spleen.", "detailed_caption": "Endoscopic ultrasound view showing a large mass occupying the majority of the spleen (120 × 110 mm)", "modalities": ["ultrasound", "endoscopy"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/23530099/fig/2.jpg"], "caption": "Smears from the spleen and splenic hilar lymph node. Cytology, high-power view.", "detailed_caption": "High power cytology view showing large atypical lymphoma cells with scant cytoplasm, irregular nuclear contours, small but visible nucleoli, clumped chromatin, and no cellular cohesion. The background was rich in lymphoglandular bodies with tumoral diathesis identified", "modalities": ["pathology"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/23530099/fig/3.jpg"], "caption": "Smears from the spleen and splenic hilar lymph node. CD20 immunohistochemical staining.", "detailed_caption": "CD20 immunohistochemical stain showing strong membranous positivity in the large lymphoma cells", "modalities": ["pathology"]}], "diagnosis": "Stage IV-B diffuse large B-cell non-Hodgkin lymphoma with splenic involvement", "standardized_diagnosis": [{"original_term": "Diffuse large B-cell non-Hodgkin lymphoma", "corrected_term": null, "code": "2A81.Z", "title": "Diffuse large B-cell lymphomas", "chapter": "Neoplasms", "primary": true}, {"original_term": "Splenic involvement", "corrected_term": null, "code": "3B81.9/1F86.Z", "title": "Fibrosis of spleen[Schistosomiasis involving the skin]", "chapter": "Diseases of the blood or blood-forming organs", "primary": false}]}, "year": 2013, "classification": "Neoplastic diseases"}
+{"pmid": "23574122", "patient_info": {"basic_info": "A 70-year-old woman presented to the clinic for a routine examination. The patient reported that this mass had been present since birth. Her symptoms were minimal, with occasional difficulty cleaning the area and halitosis from entrapped food, but she was otherwise asymptomatic regarding the lesion.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23574122/fig/1.jpg"], "caption": "Clinical photograph of the hard palate.", "detailed_caption": "Clinical photograph shows a large, lobulated, pink-colored mass arising from the hard palate, demonstrating the characteristic appearance of a palatal torus with significant size variation from typical presentations.", "modalities": ["clinical"]}], "diagnosis": "Torus Palatinus", "standardized_diagnosis": [{"original_term": "Torus palatinus", "corrected_term": null, "code": "DA06.2", "title": "Torus palatinus", "chapter": "Diseases of the digestive system", "primary": true}]}, "year": 2013, "classification": "Dermatologic and mucosal diseases"}
+{"pmid": "23509308", "patient_info": {"basic_info": "A 48-year-old man presented in April 2012 with an enlarging left supraclavicular mass that had been increasing in size for 3 weeks, with associated pain in the area. He denied respiratory or constitutional symptoms. Physical examination revealed a 6-cm left supraclavicular mass without appreciable changes of the overlying skin and no thyromegaly. Complete blood count showed a white blood cell count of 18.3 × 10⁹/L with lymphocytic predominance (54.3%), hemoglobin of 13.5 g/dL, and platelet count of 285 × 10³/μL. His lactate dehydrogenase level was 208 U/L. HIV test was nonreactive.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23509308/fig/1.jpg"], "caption": "Biopsy of neck mass, immunohistochemistry staining for CD4, CD15, CD30, CD38, CD45, CD79a, CD138, MUM-1, CD3, CD7, and cyclin D1.", "detailed_caption": "Biopsy of the neck mass revealed large atypical cells expressing CD4, CD15, CD30, CD38, CD45, CD79a, CD138, and MUM-1, with focal reactivity for CD3, CD7, and cyclin D1, with findings consistent with plasmablastic lymphoma arising from a background of chronic lymphocytic leukemia (insert shows small lymphocytic lymphoma/CLL component of the same tumor in adjacent area).", "modalities": ["pathology"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/23509308/fig/2.jpg"], "caption": "Positron emission tomography/computed tomography scan of the supraclavicular area and duodenal wall using [¹⁸F] fluorodeoxyglucose.", "detailed_caption": "Positron emission tomography/computed tomography scan showed intense [¹⁸F] fluorodeoxyglucose avidity in the supraclavicular area corresponding to the palpable mass and in the duodenal wall, findings that were highly suggestive of serosal implants of lymphoma.", "modalities": ["pet/spect/nuclear", "ct"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/23509308/fig/3.jpg"], "caption": "Immunohistochemical staining for CD30 in lymphoma tissue section.", "detailed_caption": "Figure 3 demonstrates an immunohistochemical analysis of a tissue section from the patient’s lymphoma, showing strong membranous and cytoplasmic expression of CD30 in tumor cells. The specimen is derived from the lymphoma site and highlights the immunophenotype relevant to the diagnosis of plasmablastic lymphoma; no specific magnification or exact anatomical location within the figure is stated in the caption or body text, but the context indicates it is from the patient’s diagnosed lesion.", "modalities": ["pathology"]}], "diagnosis": "Plasmablastic lymphoma arising from a background of chronic lymphocytic leukemia", "standardized_diagnosis": [{"original_term": "Plasmablastic lymphoma", "corrected_term": null, "code": "2A81.2", "title": "Plasmablastic lymphoma", "chapter": "Neoplasms", "primary": true}, {"original_term": "Chronic lymphocytic leukemia", "corrected_term": null, "code": "2A82.00", "title": "chronic lymphocytic leukaemia", "chapter": "Neoplasms", "primary": false}]}, "year": 2013, "classification": "Neoplastic diseases"}
+{"pmid": "23460716", "patient_info": {"basic_info": "47-year-old female patient with Karnofsky performance status of 70% who developed mild gait ataxia.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A,B,C", "path": ["images/23460716/fig/1.jpg"], "caption": "(A) H&E staining of cerebellar tumor specimen. (B) Immunohistochemical analysis of tumor section for HMB45 antigen. (C) H&E staining of tumor specimen, higher magnification.", "detailed_caption": "A: Hematoxylin and eosin staining of a resected tumor specimen from the cerebellar lesion shows high cellularity. B: Immunohistochemical analysis of the tumor section demonstrates strong positivity for the HMB45 antigen. C: Hematoxylin and eosin staining at higher magnification highlights the presence of mitotic figures, indicated by an arrowhead.", "modalities": ["pathology"]}, {"type": "fig", "id": 1, "subfig": "D", "path": ["images/23460716/fig/2.jpg"], "caption": "(D) Cytological image of cerebrospinal fluid sample acquired during therapy, Melan A staining.", "detailed_caption": "D: Cytological image of a cerebrospinal fluid (CSF) sample acquired during therapy, demonstrating a Melan A-positive melanoma cell cluster.", "modalities": ["pathology"]}, {"type": "fig", "id": 1, "subfig": "E", "path": ["images/23460716/fig/3.jpg"], "caption": "T1-weighted contrast-enhanced MRI.", "detailed_caption": "T1-weighted contrast-enhanced MRI showed widespread subependymal and occipital leptomeningeal enhancement", "modalities": ["mri"]}, {"type": "tab", "id": 1, "subfig": null, "path": ["images/23460716/tab/4.jpg"], "caption": "Cerebrospinal fluid laboratory analysis.", "detailed_caption": "Initial CSF parameters showed presence of melanoma cells, elevated cell count (10-53/μL), elevated protein (623-873 mg/L), and elevated lactate (3.3-3.7 mmol/L)", "modalities": ["lab"]}], "diagnosis": "V600E BRAF-mutated melanoma with leptomeningeal melanomatosis (LM), hemorrhagic left cerebellar lesion, and right parieto-occipital lesion", "standardized_diagnosis": [{"original_term": "Melanoma", "corrected_term": null, "code": "2C30.Z", "title": "melanoma NOS", "chapter": "Neoplasms", "primary": true}, {"original_term": "Leptomeningeal melanomatosis", "corrected_term": null, "code": "1D01.Z", "title": "Leptomeningitis", "chapter": "Diseases of the nervous system", "primary": false}, {"original_term": "Hemorrhagic cerebellar lesion", "corrected_term": null, "code": "8B00.3", "title": "Cerebellar haemorrhage", "chapter": "Diseases of the nervous system", "primary": false}, {"original_term": "Parieto-occipital lesion", "corrected_term": null, "code": "8C12.Y", "title": "Lesion of greater occipital nerve", "chapter": "Diseases of the nervous system", "primary": false}]}, "year": 2013, "classification": "Neoplastic diseases"}
+{"pmid": "23530104", "patient_info": {"basic_info": "An 86-year-old female patient presented with lip lesions and numerous cutaneous warty growths that had been present for 6 months. She experienced mild dysphagia but had no systemic symptoms including weight loss. Her medical history included osteoporosis treated with risedronate, and she was otherwise healthy. Several wart-like papules were present on the skin of her face, neck, and extremities. There was no cutaneous hyperpigmentation or velvety thickening. Histologic examination of cutaneous and mucosal lesions showed hyperkeratosis, acanthosis, and papillomatosis but no viral inclusion or vacuolar degeneration of keratinocytes, with no evidence of human papillomavirus by polymerase chain reaction.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23530104/fig/1.jpg"], "caption": "Clinical photograph of the lip vermillion, oral cavity, and oropharynx at initial assessment.", "detailed_caption": "Figure 1 presents a clinical photograph depicting confluent fine papillomatosis across the lip vermillion, diffusely affecting the mucosa of the oral cavity and oropharynx; this image documents the gross, mucocutaneous appearance of the lesions on initial patient assessment, without use of specialized imaging or histopathological techniques.", "modalities": ["clinical"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/23530104/fig/2.jpg"], "caption": "Clinical photograph of the hand.", "detailed_caption": "Shows wart-like papules on the extremities, specifically the hand", "modalities": ["clinical"]}], "diagnosis": "Florid cutaneous papillomatosis associated with gastric adenocarcinoma (poorly differentiated carcinoma)", "standardized_diagnosis": [{"original_term": "Florid cutaneous papillomatosis", "corrected_term": null, "code": "EL10", "title": "Florid cutaneous papillomatosis", "chapter": "Diseases of the skin", "primary": false}, {"original_term": "Gastric adenocarcinoma", "corrected_term": null, "code": "2B72.0", "title": "Adenocarcinoma of stomach", "chapter": "Neoplasms", "primary": true}]}, "year": 2013, "classification": "Neoplastic diseases"}
+{"pmid": "23509306", "patient_info": {"basic_info": "A previously healthy 27-year-old man presented with cough, hemoptysis, and low-grade fever that had persisted for a few days. He denied night sweats and unexplained weight loss. He had a notable history of left supraclavicular lymph node enlargement that had been spontaneously enlarging and shrinking since age 15. On physical examination, he appeared thin with height of 168 cm and weight of 48 kg. His vital signs were mostly normal except for low-grade fever of 37.6°C and mild hypoxemia with arterial oxygen saturation of 94% on ambient air. Physical examination revealed crackles in the left upper lung field and left supraclavicular lymphadenopathy measuring 2 cm in diameter, which was nontender, firm, nonfixed, circumscribed, and rubbery. Laboratory findings showed increased WBC count of 20,000/μL with neutrophilic predominance (88.5%), erythrocyte sedimentation rate of 66 mm/h, and C-reactive protein level of 10.5 mg/dL. Secretory interleukin-2 receptor was elevated at 4,140 U/μL. Blood and sputum cultures for bacteria, acid-fast organisms, and fungi were negative. Serum titers for antimyeloperoxidase antineutrophil cytoplasmic antibody, antiproteinase 3 antineutrophil cytoplasmic antibody, rheumatoid factor, HIV antibody, and tumor markers were all negative. Otologic evaluation showed no apparent evidence of vasculitis or other diseases. Transbronchial lung biopsy showed granulomatous inflammation but no pathogens accounting for destructive lung disease.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/23509306/fig/1.jpg"], "caption": "Chest x-ray performed on admission to the local hospital.", "detailed_caption": "The chest x-ray taken on admission to the local hospital showed infiltration involving the left upper lung field.", "modalities": ["x-ray"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/23509306/fig/2.jpg"], "caption": "Chest x-ray on admission, left upper lung field.", "detailed_caption": "The chest x-ray taken on admission to the hospital 2 weeks later showed that the infiltration had spread throughout the patient's entire left upper lung field with cavity formation.", "modalities": ["x-ray"]}, {"type": "fig", "id": 1, "subfig": "C and D", "path": ["images/23509306/fig/3.jpg"], "caption": "CT of the thorax, nonenhanced, left upper lobe.", "detailed_caption": "Nonenhanced thoracic computed tomography demonstrated thick-walled, multiple cavities in various sizes up to 4 cm in diameter that were distributed throughout the left upper lobe, some of which were coalescent, but no enlargement of either the mediastinum or hilar lymph nodes was observed.", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": "C", "path": ["images/23509306/fig/4.jpg"], "caption": "Histological section, CD3 and CD30 immunohistochemical staining, negative for CD15, CD20, and CD79α.", "detailed_caption": "Histologically, scattered large atypical lymphoid cells were detected in areas of granulomatous inflammation with abundant neutrophils, which mimicked abscess formation. These atypical lymphoid cells were positively stained with both CD3 and CD30, but were negative for CD15, CD20, and CD79α.", "modalities": ["pathology"]}, {"type": "fig", "id": 3, "subfig": "A", "path": ["images/23509306/fig/5.jpg"], "caption": "Left supraclavicular lymph node section, H&E staining, low-power magnification.", "detailed_caption": "A: Low-power field hematoxylin and eosin (H&E)-stained section of the left supraclavicular lymph node showing destructive lymphoid follicles with a nodular component delineated by collagenous fibers.", "modalities": ["pathology"]}, {"type": "fig", "id": 3, "subfig": "B", "path": ["images/23509306/fig/6.jpg"], "caption": "H&E staining, CD30 and CD15 immunohistochemistry.", "detailed_caption": "Typical Hodgkin cells (white arrows) and Reed-Sternberg cells (black arrowheads) with abundant lymphocyte infiltration or a small number of eosinophils in their background were contained. These atypical cells were positively stained with not only CD30 but also CD15 antibodies.", "modalities": ["pathology"]}], "diagnosis": "Nodular sclerosis classical Hodgkin lymphoma, stage IVA, according to the Ann Arbor staging classification", "standardized_diagnosis": [{"original_term": "Nodular sclerosis classical Hodgkin lymphoma", "corrected_term": null, "code": "2B30.10", "title": "Nodular sclerosis classical Hodgkin lymphoma", "chapter": "Neoplasms", "primary": true}]}, "year": 2013, "classification": "Neoplastic diseases"}
+{"pmid": "23509318", "patient_info": {"basic_info": "A 44-year-old woman was diagnosed with diffuse large B-cell lymphoma in August 2011. At primary staging, she presented with cervical, mediastinal, axillary, and inguinal lymphadenopathy, accompanied by approximately 60% infiltration of the bone marrow by malignant B cells. Her peripheral blood count revealed thrombocytopenia and leucocytopenia. During clinical examination, the spleen was not palpable in the left upper quadrant, but resistance was detected in the lower abdomen with distinguishable bruits. The patient weighed 140 kg with a body mass index of 51.4 kg/m², having lost several kilograms in recent months. Her medical history included delivery of twins by Caesarian section in 2002.\n\n", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23509318/fig/1.jpg"], "caption": "Lymph node biopsy, CD79a staining, 250× magnification.", "detailed_caption": "Lymph node biopsy showed dense infiltration by CD79a+ centroblasts at ×250 magnification.", "modalities": ["pathology"]}, {"type": "fig", "id": 2, "subfig": "A", "path": ["images/23509318/fig/2.jpg"], "caption": "CT scan of the spleen, performed in 2006, maximum diameter 10 cm.", "detailed_caption": "CT scan from 2006 showed normal spleen extension with maximum diameter of 10 cm.", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": "B", "path": ["images/23509318/fig/3.jpg"], "caption": "CT scan of the abdomen, performed in 2010.", "detailed_caption": "CT scan from 2010 first recognized spleen dislocation with normal extension within 10 cm.", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": "C", "path": ["images/23509318/fig/4.jpg"], "caption": "CT scan at time of B-cell lymphoma diagnosis.", "detailed_caption": "CT scan at time of B-cell lymphoma diagnosis documented hepatosplenomegaly with spleen measuring about 25 cm, prolapsing into a wide abdominal hernia.", "modalities": ["ct"]}], "diagnosis": "Diffuse large B-cell lymphoma with dislocated spleen", "standardized_diagnosis": [{"original_term": "Diffuse large B-cell lymphoma", "corrected_term": null, "code": "2A81.Z", "title": "Diffuse large B-cell lymphomas", "chapter": "Neoplasms", "primary": true}, {"original_term": "Splenic dislocation", "corrected_term": null, "code": "ND56.3", "title": "dislocation NOS", "chapter": "Injury, poisoning or certain other consequences of external causes", "primary": false}]}, "year": 2013, "classification": "Neoplastic diseases"}
+{"pmid": "23594007", "patient_info": {"basic_info": "An 18-year-old woman presented with a 3-week history of fever and cough productive of white, nonbloody sputum. Over the following week, she developed night sweats, extremely painful pharyngitis, pleuritic chest pain, increasing shortness of breath, nausea, vomiting, and diarrhea. She had a history of tonsillitis and hand surgery, lived with her family and a cat, worked outdoors, and had a bedroom that was reportedly damp and moldy. She smoked cigarettes and marijuana and had a new boyfriend. She had removed a tick from her abdomen approximately 1 week before presentation. On examination at the second hospital, she was in mild respiratory distress with blood pressure 140/74 mm Hg, pulse 127 beats per minute, temperature 37.3°C, respiratory rate 20 breaths per minute, and oxygen saturation 94% on ambient air. Her lips were dry, and coughing and scattered wheezing were heard. There was mild tenderness at the costovertebral angles and in all quadrants of the abdomen, without rebound. On examination at this hospital, she was sedated, intubated, and ventilated with a crusted lesion on her lip. Blood pressure was 112/64 mm Hg, pulse 65 beats per minute, temperature 37.0°C, and oxygen saturation 95% while breathing 60% oxygen. Expiratory breath sounds were louder in the right lung than in the left lung, and there was prominent physiologic splitting of the second cardiac sound with accentuation of the pulmonic-valve closure sound.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/23594007/tab/1.jpg"], "caption": "Laboratory results, including complete blood count, erythrocyte sedimentation rate, lactate dehydrogenase, galactomannan index, 1,3-β-D-glucan, Anaplasma and Ehrlichia DNA, Giemsa-stained peripheral-blood smears, blood gases, serology for Borrelia burgdorferi, Anaplasma phagocytophilum, HIV, and legionella urinary antigen testing.", "detailed_caption": "Laboratory results showed leukocytosis with white-cell count of 17,200 per mm³ on second hospital admission progressing to 21,600 per mm³ on admission to this hospital, with neutrophilia (82% neutrophils initially, 61% on final admission). Hematocrit decreased from 38.9% to 30.5% and hemoglobin from 13.3 to 10.8 g/dl. Platelet count was markedly elevated at 752,000 per mm³. Erythrocyte sedimentation rate was elevated at 55 mm/hr. Thick and thin Giemsa-stained peripheral-blood smears showed no organisms. Lactate dehydrogenase was elevated at 346 U/liter. Galactomannan index was <0.5, 1,3-β-D-glucan was <31 pg/ml, and Anaplasma and Ehrlichia DNA were negative. Blood gases showed pH 7.41, partial pressure of oxygen 41 mm Hg, and partial pressure of carbon dioxide 43 mm Hg on venous blood. Testing for serum antibodies to Borrelia burgdorferi, Anaplasma phagocytophilum, and HIV were negative, as was legionella urinary antigen testing.", "modalities": ["lab", "pathology", "genetic"]}, {"type": "fig", "id": 1, "subfig": null, "path": ["images/23594007/fig/2.jpg"], "caption": "(A) Chest radiograph of the chest obtained on admission to the second hospital. (B, C) Chest CT, lung window, obtained 4 days later. (D) Portable chest radiograph of the chest obtained on admission to this hospital.", "detailed_caption": "A chest radiograph obtained on admission to the second hospital (Panel A) shows patchy opacities in the left middle and lower lung zones and in the right lung base, a finding suggestive of pneumonia. Lung windows from a CT study of the chest obtained 4 days later (Panels B and C) show multifocal segmental and subsegmental consolidations and ground-glass opacities, with air bronchograms. A portable chest radiograph obtained on admission to this hospital (Panel D) shows persistent but improved bilateral multifocal pneumonia.", "modalities": ["x-ray", "ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/23594007/fig/3.jpg"], "caption": "(A) Bronchoalveolar-lavage fluid specimen, Papanicolaou staining. (B) Bronchoalveolar-lavage fluid cell block, hematoxylin and eosin staining. (C) Bronchoalveolar-lavage fluid specimen, immunoperoxidase staining.", "detailed_caption": "A specimen from the bronchoalveolar-lavage fluid shows numerous Tzanck cells (Panel A, arrows; Papanicolaou stain) with cytopathological changes that are typical of herpes simplex virus (HSV) infection. Cells from a cell block prepared from the broncho alveolar-lavage fluid show the typical cytopathological effect of HSV (Panel B, hematoxylin and eosin); both HSV-1 and HSV-2 antigens are detected with immunohistochemical staining (Panel C, immunoperoxidase).", "modalities": ["pathology"]}], "diagnosis": "Herpes simplex virus type 1 pneumonia", "standardized_diagnosis": [{"original_term": "Herpes simplex virus pneumonia", "corrected_term": null, "code": "CA40.1Z", "title": "Viral pneumonia", "chapter": "Diseases of the respiratory system", "primary": true}]}, "year": 2013, "classification": "Infectious and immunologic disorders"}
+{"pmid": "23614085", "patient_info": {"basic_info": "A 48-year-old male patient (height 165 cm, weight 76 kg) presented with abdominal pain in the right upper abdomen. He had a history of exploratory laparotomy for abdominal abscess 25 years prior without acute complications. The patient had been experiencing localized pain and allodynia around the surgical scar for 4 years. The pain was continuous, throbbing, and pulsatile in nature, aggravated by overwork or alcohol consumption, and relieved by compression of the scar. Pain intensity was 4 out of 10 at rest and up to 8 out of 10 when aggravated on an 11-point numeric rating scale. When aggravated, the pain radiated to his right upper arm once every 2-3 seconds with similar nature and intensity as the original pain, accompanied by a heated sensation in both the abdomen and right upper arm. The patient had diabetes mellitus and was taking aspirin and hypoglycemic medications. Previous investigations including two abdominal CT scans and cervical spine MRI showed no abnormal conditions. Physical examination revealed a 3 cm long surgical scar on the right upper abdomen with focal tenderness, allodynia, and hyperesthesia around the scar, while the right upper arm showed no abnormal findings.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23614085/fig/1.jpg"], "caption": "Color Doppler ultrasound of the subcutaneous layer at the mid-surgical scar, mass size 0.62 × 0.27 × 0.69 cm.", "detailed_caption": "Color Doppler ultrasound demonstrates a vascular mass with turbulent blood flow measuring 0.62 × 0.27 × 0.69 cm in the subcutaneous layer of the mid-surgical scar, showing active blood flow in the pseudoaneurysm.", "modalities": ["ultrasound"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/23614085/fig/2.jpg"], "caption": "Fluoroscopy of the right upper abdomen, anteroposterior view.", "detailed_caption": "Fluoroscopy shows an oval mass filled with contrast media at the right upper abdomen on the anteroposterior view.", "modalities": ["x-ray"]}], "diagnosis": "Pseudoaneurysm of the abdominal wall with referred pain to the right arm", "standardized_diagnosis": [{"original_term": "Pseudoaneurysm of the abdominal wall", "corrected_term": null, "code": "BD51.Z", "title": "pseudoaneurysm", "chapter": "Diseases of the circulatory system", "primary": true}]}, "year": 2013, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "23460717", "patient_info": {"basic_info": "55-year-old white man with history of stage III colon adenocarcinoma diagnosed in 2010. In November 2011, presented with right shoulder pain. Laboratory tests showed elevated carcinoembryonic antigen level of 13.9 ng/mL (normal level, ≤ 5 ng/mL)", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23460717/fig/1.jpg"], "caption": "MRI of the right scapula.", "detailed_caption": "MRI showed expansive lesion with cortical involvement in the right scapula (48 x 35 x 64 mm)", "modalities": ["mri"]}, {"type": "fig", "id": 2, "subfig": "A", "path": ["images/23460717/fig/2.jpg"], "caption": "MRI of the inferior left lung lobe.", "detailed_caption": "MRI showed solitary lung nodule measuring 2 cm in diameter in the posterior segment of the inferior left lung lobe", "modalities": ["mri"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/23460717/fig/3.jpg"], "caption": "Bone scan of the right scapula.", "detailed_caption": "Bone scan showed increased uptake in the right scapula", "modalities": ["pet/spect/nuclear"]}, {"type": "fig", "id": 5, "subfig": "A", "path": ["images/23460717/fig/4.jpg"], "caption": "Bone biopsy, histopathology.", "detailed_caption": "Bone biopsy histopathology showed proliferation of atypical cells with basophilic cytoplasm and hyperchromatic and macrocariotic nuclei arranged in complex architectural pattern with glandular differentiation", "modalities": ["pathology"]}, {"type": "fig", "id": 5, "subfig": "B,C", "path": ["images/23460717/fig/5.jpg"], "caption": "Immunohistochemical analysis, cytokeratin 20 positive, cytokeratin 7 negative.", "detailed_caption": "Immunohistochemical profile was cytokeratin 20 positive/cytokeratin 7 negative, consistent with colonic origin", "modalities": ["pathology"]}], "diagnosis": "Colon cancer recurrence with skeletal (right scapula) and lung metastases, with VEGF-positive lesions", "standardized_diagnosis": [{"original_term": "Colon cancer recurrence", "corrected_term": null, "code": "2B90.Z", "title": "Malignant neoplasms of colon", "chapter": "Diseases of the digestive system", "primary": true}, {"original_term": "Bone metastasis", "corrected_term": null, "code": "2E03", "title": "bone metastasis", "chapter": "Neoplasms", "primary": false}, {"original_term": "Lung metastasis", "corrected_term": null, "code": "2D70", "title": "metastasis in lung", "chapter": "Neoplasms", "primary": false}]}, "year": 2013, "classification": "Neoplastic diseases"}
+{"pmid": "23613701", "patient_info": {"basic_info": "27-year-old female, 162cm tall, 30kg weight. Born after normal pregnancy/delivery. No family history of neurological diseases. Normal early development. At age 6, developed general muscle weakness and gait disturbance with decreased muscle tone/strength and atrophic muscle mass. At age 8, muscle biopsy showed mitochondrial myopathy of pleoconial type. At age 24, had sudden syncope. At age 26, had stroke with general weakness, aphagia, and dysarthria. Current presentation at age 27 with left hemiplegia and aphasia. Lab findings: plasma lactate 21.8 mg/dL (elevated), normal CBC/electrolytes/BUN/creatinine, free T4 1.76 ng/dL, TSH 0.04 μIU/mL, C3 13 mg/dL (low), C4 18 mg/dL (normal). Negative for ASO antibody, rheumatoid factor, anti-dsDNA, lupus anticoagulants, and anti-cytoplasmic antibody. DNA sequencing showed m.3303C>T mutation in mitochondrial tRNA leucine 1 gene.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23613701/fig/1.jpg"], "caption": "Brain MRI.", "detailed_caption": "Brain MRI shows restricted diffusion involving right front-temporal lobe, right insula and right basal ganglia, indicating acute infarction in right middle cerebral artery territory", "modalities": ["mri"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/23613701/fig/2.jpg"], "caption": "MR angiography of the head and neck.", "detailed_caption": "MR angiography shows non-visible flow at right distal internal carotid artery and right middle cerebral artery", "modalities": ["mri", "angiography"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/23613701/fig/3.jpg"], "caption": "(A) Echocardiography, left ventricular apex, short axis view. (B) Echocardiography, left ventricular apex, two chamber view.", "detailed_caption": "Echocardiography detected a mobile small thrombus (arrow) with length of 2.2 cm attached to left ventricular apex at short axis view (A) and two chamber view (B).", "modalities": ["ultrasound"]}], "diagnosis": "MELAS (Myopathy, Encephalopathy, Lactic Acidosis and Stroke-like Episodes) syndrome with intracardiac thrombus", "standardized_diagnosis": [{"original_term": "MELAS syndrome", "corrected_term": null, "code": "8C73.Y", "title": "MELAS - [Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes] syndrome", "chapter": "Diseases of the nervous system", "primary": true}, {"original_term": "Intracardiac thrombus", "corrected_term": null, "code": "BA41.Z", "title": "intracardiac thrombus", "chapter": "Diseases of the circulatory system", "primary": false}]}, "year": 2013, "classification": "Neurological disorders"}
+{"pmid": "23575567", "patient_info": {"basic_info": "66-year-old male with diabetes presenting with acute onset visual loss in left eye 6 hours before emergency service visit. History includes episodes of palpitation and dizziness, previously diagnosed with non-valvular atrial fibrillation.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23575567/fig/1.jpg"], "caption": "Visual field examination.", "detailed_caption": "Visual field examination shows visual field defect in right superior nasal quadrant and left superior temporal quadrant, indicating left homonymous superior quadrantanopia", "modalities": ["ophthalmic imaging"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/23575567/fig/2.jpg"], "caption": "(A) Brain MRI, diffusion weighted imaging. (B) Brain MRI, apparent diffusion coefficient map. (C) Brain MRI, susceptibility weighted imaging.", "detailed_caption": "Brain MRI findings: (A) Diffusion weighted imaging shows hyperintense signal in right inferior occipital region; (B) Apparent diffusion coefficient map shows dark signal in right inferior occipital region; (C) Susceptibility weighted imaging shows areas of hypointensity indicating petechial hemorrhage. Findings indicate acute infarction with mild hemorrhagic transformation in inferior occipital cortex", "modalities": ["mri"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/23575567/fig/3.jpg"], "caption": "ECG recordings.", "detailed_caption": "ECG recordings showing: First recording with P waves and regular RR interval; Middle recording showing P waves replaced by fibrillation waves with irregular RR intervals and faster heart rate; Last recording showing return of P waves and regular RR intervals - indicating paroxysmal atrial fibrillation", "modalities": ["electrophysiology"]}], "diagnosis": "Acute ischemic stroke with hemorrhagic transformation in right inferior occipital region due to cardioembolism from paroxysmal atrial fibrillation", "standardized_diagnosis": [{"original_term": "Acute ischemic stroke", "corrected_term": null, "code": "8B11.43/8B01", "title": "Cerebral ischaemic stroke in association with subarachnoid haemorrhage[acute subarachnoid haemorrhage NOS]", "chapter": "Diseases of the nervous system", "primary": true}, {"original_term": "Hemorrhagic transformation of ischemic stroke", "corrected_term": null, "code": "8B00.Z", "title": "haemorrhagic stroke NOS", "chapter": "Diseases of the nervous system", "primary": false}, {"original_term": "Cardioembolism", "corrected_term": "Embolism originating from heart", "code": "BD5Y", "title": "Cardiac embolism", "chapter": "Diseases of the circulatory system", "primary": false}, {"original_term": "Paroxysmal atrial fibrillation", "corrected_term": null, "code": "BC81.30", "title": "Paroxysmal atrial fibrillation", "chapter": "Diseases of the circulatory system", "primary": false}]}, "year": 2013, "classification": "Neurological disorders"}
+{"pmid": "23610110", "patient_info": {"basic_info": "A 35-year-old man presented with a two-day history of melena and syncope. His medical history included systemic mastocytosis (SM) diagnosed in childhood when he presented with a diffuse, blistering rash, and type II diabetes mellitus. A previous liver biopsy had shown multiple mast cells in the portal tracts with individual mast cells in the liver sinusoids. At presentation, his SM manifested with chronic diarrhea and a pruritic rash despite combined histamine blockade with ranitidine and cetirizine. In the emergency unit, he experienced additional gastrointestinal hemorrhage. Upper and lower gastrointestinal endoscopies revealed only mild gastritis with a normal colon. A capsule enteroscopy revealed an intraluminal mass in the proximal small bowel. The patient underwent laparoscopic excision of one of the small bowel lesions, which was found to be a 40-mm spindle cell tumor. Immunohistochemistry was negative for cytokeratin AE1/AE3, cytokeratin 20, epithelial membrane antigen, synaptophysin, S100, desmin, and smooth muscle actin. The Fletcher/Miettenen risk stratification was low based on the single excised lesion (<5-cm diameter tumor, 0 mitosis/50 hpf), but he had multiple lesions throughout the duodenum and jejunum.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23610110/fig/1.jpg"], "caption": "(A, B) Computed tomography with oral contrast, duodenum and jejunum.", "detailed_caption": "Oral contrast computed tomography demonstrated multiple soft tissue lesions throughout the duodenum and jejunum (arrows shown in subfigures A and B)", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/23610110/fig/2.jpg"], "caption": "(A) Intraoperative clinical photograph of the small bowel obtained during laparoscopy. (B) Intraoperative clinical photograph of the small bowel obtained during laparoscopy.", "detailed_caption": "Figure 2 demonstrates two intraoperative clinical photographs of the small bowel obtained during laparoscopy, showing distinct exophytic lesions on the bowel surface indicative of gastrointestinal stromal tumors; panel A displays a single lesion being manipulated with forceps, and panel B presents a broader view of an additional lesion on the small bowel, confirming the presence of multiple tumors within the operative field.", "modalities": ["clinical"]}, {"type": "fig", "id": 3, "subfig": "A", "path": ["images/23610110/fig/3.jpg"], "caption": "The excised lesion. Immunohistochemistry for CD117.", "detailed_caption": "Tumor with strong diffuse membrane staining for CD117", "modalities": ["pathology"]}, {"type": "fig", "id": 3, "subfig": "B", "path": ["images/23610110/fig/4.jpg"], "caption": "The excised lesion. Hematoxylin and eosin staining.", "detailed_caption": "Hematoxylin and eosin stain demonstrating a collection of mast cells in the submucosa", "modalities": ["pathology"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/23610110/fig/5.jpg"], "caption": "Genetic sequence analysis of exon 9 of KIT at nucleotide c1526 in tumor, peripheral blood, bone marrow aspirate, and cell lineages (CD117+, CD19+, CD3+), showing single base substitution (A>T) with 1:1 heterozygous pattern.", "detailed_caption": "Genetic sequence analysis showing a single base substitution (A>T) in exon 9 of KIT at nucleotide c1526, resulting in a missense mutation K509I, found in tumor, peripheral blood, bone marrow aspirate samples, and various cell lineages (CD117+, CD19+, CD3+) with a 1:1 heterozygous pattern", "modalities": ["genetic"]}], "diagnosis": "Multiple gastrointestinal stromal tumors with systemic mastocytosis associated with germline KIT exon 9 mutation (K509I)", "standardized_diagnosis": [{"original_term": "Gastrointestinal stromal tumor", "corrected_term": null, "code": "2B5B.Z", "title": "Gastrointestinal stromal tumour of unspecified gastrointestinal sites", "chapter": "Neoplasms", "primary": true}, {"original_term": "Systemic mastocytosis", "corrected_term": null, "code": "2A21.0Z", "title": "Systemic mastocytosis", "chapter": "Neoplasms", "primary": false}, {"original_term": "Germline KIT mutation", "corrected_term": null, "code": "FB86.0", "title": "Harris lines", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": false}]}, "year": 2013, "classification": "Neoplastic diseases"}
+{"pmid": "23635054", "patient_info": {"basic_info": "A 52-year-old man from the Azores who immigrated to the United States at age 10 presented to the emergency department with acute onset of palpitations and chest pressure. Two days prior to presentation, he had developed epigastric burning, fatigue, weakness, and emesis, which improved partially with antacids. He denied antecedent fevers, chills, or other localizing symptoms. His medical history was notable for hypertension, benign prostatic hypertrophy with obstructive nephropathy, chronic renal insufficiency of unknown cause requiring dialysis until receiving a renal transplant from a living related donor one year prior, and hyperparathyroidism with bilateral cataract surgery. He had excellent adherence to his medications including mycophenolate, tacrolimus, aspirin, metoprolol, furosemide, omeprazole, and tamsulosin. His blood pressure had been well controlled for years before transplantation. On presentation, his heart rate was 200 beats per minute with atrial fibrillation and rapid ventricular response. After cardioversion, vital signs showed regular pulse of 53 beats per minute and blood pressure of 128/90 mmHg. Physical examination revealed a diffuse and laterally displaced apical impulse, prominent second heart sound, audible fourth heart sound, but no murmurs or jugular venous distention. Laboratory results showed normal electrolytes, creatinine 1.5 mg/dL, elevated troponin T at 1.04 ng/mL, normal liver function tests, white cell count 6100 per cubic millimeter with 72% neutrophils, hematocrit 37.9%, platelet count 148,000 per cubic millimeter, normal thyrotropin level, tacrolimus level 8.2 ng/mL, and urinalysis notable for 2+ proteinuria. Serum protein electrophoresis and free light-chain ratio were unremarkable. Leukocyte α-galactosidase activity was markedly reduced at 0.4 nmol per hour per milligram (reference >23.1).", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23635054/fig/1.jpg"], "caption": "12-lead electrocardiogram obtained after electrical cardioversion; PR interval=108 ms, prolonged QRS duration, increased R-wave amplitude in precordial leads (V3 and V4), ST-segment and T-wave abnormalities, presence of delta waves.", "detailed_caption": "Figure 1 shows a 12-lead electrocardiogram obtained after electrical cardioversion, demonstrating sinus rhythm with frequent premature atrial depolarizations, a shortened PR interval of 108 milliseconds, prolonged QRS duration, markedly increased R-wave amplitude in the precordial leads (particularly V3 and V4), associated ST-segment and T-wave abnormalities, and the presence of delta waves as indicated by arrows, collectively suggestive of left ventricular hypertrophy and ventricular preexcitation.", "modalities": ["electrophysiology"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/23635054/fig/2.jpg"], "caption": "(A-C) Echocardiography. (D) Doppler study.", "detailed_caption": "The echocardiographic images in Panels A, B, and C show biventricular hypertrophy and left atrial enlargement, and the Doppler study in Panel D shows impaired myocardial relaxation.", "modalities": ["ultrasound"]}], "diagnosis": "Fabry's disease with nonsense mutation in the second exon of GLA gene encoding α-galactosidase", "standardized_diagnosis": [{"original_term": "Fabry's disease", "corrected_term": null, "code": "5C56.01", "title": "Fabry disease", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": true}]}, "year": 2013, "classification": "Genetic and congenital disorders"}
+{"pmid": "23610111", "patient_info": {"basic_info": "A 53-year-old man initially diagnosed with seminoma in 2007 presented with painful right testicular swelling. At initial diagnosis, preoperative tumor markers showed β-human chorionic gonadotropin (β-hCG) level of 1 mIU/mL, α-fetoprotein level of 3.6 ng/mL, and minimally elevated lactate dehydrogenase level of 213 U/L. The orchiectomy pathology revealed a 4.1-cm pure classical seminoma contained by the tunica albuginea with focal extension into rete testis and perivesicular soft tissue, with no lymphovascular invasion and uninvolved spermatic cord. Initial computed tomography scans were negative for metastases. His medical history included remote right shoulder surgery for rotator cuff tear and frozen shoulder. During surveillance in December 2011, he developed elevated β-hCG (86 mIU/mL) that was rapidly increasing, while lactate dehydrogenase and α-fetoprotein levels remained normal. Physical examination, CT of chest/abdomen/pelvis, and left testicular ultrasound showed no evidence of recurrence or new primary tumor.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/23610111/fig/1.jpg"], "caption": "MRI of the right shoulder, proximal humerus, bone lesion size 3 cm.", "detailed_caption": "MRI of the right shoulder confirmed a 3-cm enhancing bone lesion in the proximal right humerus", "modalities": ["mri"]}, {"type": "fig", "id": 2, "subfig": "A", "path": ["images/23610111/fig/2.jpg"], "caption": "FDG-PET of the right proximal humerus, SUVmax=4.9.", "detailed_caption": "FDG-PET revealed a hypermetabolic focus in the right proximal humerus with a standardized uptake value of 4.9, suggestive of a metastatic lesion and clearly distinct from the tendinous structures", "modalities": ["pet/spect/nuclear"]}, {"type": "fig", "id": 3, "subfig": "A", "path": ["images/23610111/fig/3.jpg"], "caption": "CT-guided core needle biopsy of the humerus.", "detailed_caption": "CT-guided core needle biopsy of the humeral lesion revealed sheets of large cells with clear cytoplasm, distinct cytoplasmic borders, and vesicular nuclei consistent with metastatic classical seminoma", "modalities": ["ct", "pathology"]}, {"type": "fig", "id": 3, "subfig": "B", "path": ["images/23610111/fig/4.jpg"], "caption": "Immunohistochemical staining for placental alkaline phosphatase, CD117, CD30, pankeratin, and epithelial membrane antigen.", "detailed_caption": "Neoplastic cells were positive for placental alkaline phosphatase and CD117 but were negative for CD30, pankeratin, and epithelial membrane antigen", "modalities": ["pathology"]}], "diagnosis": "Solitary bony metastasis in seminoma (metastatic classical seminoma to the right proximal humerus)", "standardized_diagnosis": [{"original_term": "Classical seminoma", "corrected_term": null, "code": "2C80.2", "title": "seminoma; anaplastic, unspecified site", "chapter": "Neoplasms", "primary": true}, {"original_term": "Bone metastasis", "corrected_term": null, "code": "2E03", "title": "bone metastasis", "chapter": "Neoplasms", "primary": false}]}, "year": 2013, "classification": "Neoplastic diseases"}
+{"pmid": "23650410", "patient_info": {"basic_info": "76-year-old man from the Indian subcontinent presented with fever and priapism. Physical exam showed painful, engorged penis with intact skin, no lymphadenopathy, hepatomegaly, or splenomegaly. No skin rash or nodules were found.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23650410/fig/1.jpg"], "caption": "(D–F) PET scan, prostate and left acetabulum. (J–O) PET scan, pubis, prostate, and penis. (P–R) PET scan, sacrum and penis.", "detailed_caption": "PET scan showed abnormal FDG uptake in prostate, penis, and several bones (right humerus, sacrum, pubis, left acetabulum). Subfigs D-F show prostate and acetabulum involvement; J-O show pubis, prostate, and penis involvement; P-R show sacral and extensive penile involvement.", "modalities": ["pet/spect/nuclear"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/23650410/fig/2.jpg"], "caption": "(A) Penile biopsy. (B) Prostate biopsy. (C-D) Prostate biopsy, immunohistochemical staining for CD45, CD20, CD3, and Congo red.", "detailed_caption": "Penile biopsy (Subfig A) and prostate biopsy (Subfig B) showed large abnormal lymphoid cells partially occluding small blood vessels. Immunohistochemical staining of prostate biopsy showed CD45+, CD20+, CD3-, and Congo red negative cells (Subfigs C-D).", "modalities": ["pathology"]}], "diagnosis": "Intravascular large B-cell lymphoma (IVLBCL) with involvement of the penis, prostate, and bones", "standardized_diagnosis": [{"original_term": "Intravascular large B-cell lymphoma", "corrected_term": null, "code": "2A81.1", "title": "Intravascular large B-cell lymphoma", "chapter": "Neoplasms", "primary": true}, {"original_term": "Penile lymphoma", "corrected_term": null, "code": "2B33.5", "title": "Lymphoma NOS", "chapter": "Neoplasms", "primary": false}, {"original_term": "Prostatic lymphoma", "corrected_term": null, "code": "GA90", "title": "prostatism", "chapter": "Diseases of the genitourinary system", "primary": false}, {"original_term": "Bone lymphoma", "corrected_term": null, "code": "2B33.5", "title": "Lymphoma NOS", "chapter": "Neoplasms", "primary": false}]}, "year": 2013, "classification": "Neoplastic diseases"}
+{"pmid": "23630209", "patient_info": {"basic_info": "52-year-old woman presented with a one-month history of daily temperatures exceeding 38.5°C, night sweats, fatigue, and intermittent productive cough. She had no significant medical comorbidities. Physical examination revealed obesity with a BMI of 38.2 kg/m², but was otherwise unremarkable with no other notable findings. Laboratory analysis showed normocytic anemia with hemoglobin of 93 g/L, thrombocytopenia with platelet count of 88 × 10⁹/L, and normal white blood cell count. Biochemical analysis demonstrated elevated inflammatory markers including erythrocyte sedimentation rate of 93 mm/h, C-reactive protein of 79 mg/L, lactate dehydrogenase of 1,252 U/L, and beta-2 microglobulin of 9.0 mg/L. Immunoglobulin levels, autoantibodies, and serum angiotensin-converting enzyme were normal. Extensive infectious workup was negative, including chest radiography, CT chest and abdomen with contrast, blood/urine/sputum cultures for bacteria, mycobacteria, viruses (HIV, hepatitis B and C), peripheral blood smears for parasites, and bone marrow biopsy which showed normal findings.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23630209/fig/1.jpg"], "caption": "Whole-body PET/CT with [18F]FDG.", "detailed_caption": "Whole-body positron emission tomography/CT (PET/CT) with [18F]fluorodeoxyglucose (FDG) was performed, revealing multiple hypermetabolic nodules of various sizes distributed throughout subcutaneous adipose tissue.", "modalities": ["pet/spect/nuclear", "ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/23630209/fig/2.jpg"], "caption": "H&E-stained histopathological section of skin tissue, 50× magnification.", "detailed_caption": "Figure 2 in this article shows a hematoxylin and eosin (H&E)-stained histopathological section of skin tissue at 50x magnification, illustrating a diffuse, nonepidermotropic infiltrate of large lymphoid cells present in the papillary and deep reticular dermis.", "modalities": ["pathology"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/23630209/fig/3.jpg"], "caption": "section of skin tissue. Immunohistochemistry for CD20.", "detailed_caption": "Immunohistochemistry demonstrated neoplastic cells positive for CD20", "modalities": ["pathology"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/23630209/fig/4.jpg"], "caption": "section of skin tissue. Immunohistochemistry.", "detailed_caption": "Immunohistochemistry showed neoplastic cells positive for BCL-2", "modalities": ["pathology"]}, {"type": "fig", "id": 5, "subfig": null, "path": ["images/23630209/fig/5.jpg"], "caption": "section of skin tissue. Immunohistochemistry for immunoglobulin M.", "detailed_caption": "Immunohistochemistry revealed neoplastic cells positive for immunoglobulin M", "modalities": ["pathology"]}, {"type": "fig", "id": 6, "subfig": null, "path": ["images/23630209/fig/6.jpg"], "caption": "section of skin tissue. Immunohistochemistry, Ki-67=70%, CD79a positive, MUM-1 positive, CD3 negative, CD5 negative, BCL-6 negative, CD10 negative.", "detailed_caption": "Immunohistochemistry demonstrated Ki-67 positivity in 70% of cells, with additional positive staining for CD79a and MUM-1, but negative for CD3, CD5, BCL-6, and CD10", "modalities": ["pathology"]}], "diagnosis": "Primary cutaneous diffuse large B-cell lymphoma (PCLBCL), leg type (LT)", "standardized_diagnosis": [{"original_term": "Primary cutaneous diffuse large B-cell lymphoma, leg type", "corrected_term": null, "code": "2A81.A", "title": "Primary cutaneous diffuse large B-cell lymphoma, leg type", "chapter": "Neoplasms", "primary": true}]}, "year": 2013, "classification": "Neoplastic diseases"}
+{"pmid": "23535257", "patient_info": {"basic_info": "26-year-old previously healthy woman presented to emergency department immediately after being involved in a road traffic incident. Clinical examination led to suspicion of scaphoid injury.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23535257/fig/1.jpg"], "caption": "Wrist radiograph, posteroanterior view.", "detailed_caption": "Posteroanterior radiograph of wrist showing an incomplete lucency at the waist of scaphoid suspicious for a fracture but not definitive", "modalities": ["x-ray"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/23535257/fig/2.jpg"], "caption": "MRI of the wrist, coronal T1-weighted sequence with fat saturation.", "detailed_caption": "Magnetic resonance imaging of the wrist using coronal T1 with fat saturation showing a clear, non-displaced scaphoid waist fracture", "modalities": ["mri"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/23535257/fig/3.jpg"], "caption": "MRI of the wrist, coronal view, T2-weighted sequence with fat saturation.", "detailed_caption": "Magnetic resonance imaging of the wrist using coronal T2 with fat saturation showing a clear, non-displaced scaphoid waist fracture", "modalities": ["mri"]}], "diagnosis": "Scaphoid waist fracture (confirmed by MRI)", "standardized_diagnosis": [{"original_term": "Scaphoid waist fracture", "corrected_term": null, "code": "NC53.0", "title": "fracture of scaphoid", "chapter": "Injury, poisoning or certain other consequences of external causes", "primary": true}]}, "year": 2013, "classification": "Orthopedic and connective tissue disorders"}
+{"pmid": "23656649", "patient_info": {"basic_info": "A 70-year-old woman presented to the gynecologic cancer center with postmenopausal vaginal bleeding. Approximately one month prior, she had noted brown vaginal discharge, and vaginal bleeding developed 18 days before her evaluation. She reported no pelvic pain, change in appetite or weight, nausea, or vomiting. Her obstetric history was gravida 3, para 3, with normal spontaneous vaginal deliveries. Her last menstrual period was 20 years earlier. Eleven years earlier, she had uterine bleeding that resolved after endometrial polypectomy. Ten years earlier, she was diagnosed with infiltrating ductal carcinoma of the right breast (T2N0) with positive estrogen and progesterone receptor testing and HER2 overexpression, treated with lumpectomy, sentinel lymph node mapping, adjuvant chemotherapy, radiation therapy, and hormonal therapy (tamoxifen for 4 years followed by anastrozole). Her medical history also included osteoporosis, hypercholesterolemia, and hypothyroidism. Her family history was significant for heart disease in both parents who died in their 90s, maternal grandfather who died of pancreatic cancer at age 70, and maternal uncle who died of liver cancer at age 60. Physical examination revealed an obese patient with normal vital signs; the uterus was small and mobile with no vulvar, vaginal, or cervical lesions. The remainder of the examination was unremarkable.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23656649/fig/1.jpg"], "caption": "(A) Hysterectomy specimen, H&E staining. (B) Hysterectomy specimen, H&E staining. (C) Hysterectomy specimen, H&E staining. (D) Hysterectomy specimen, H&E staining.", "detailed_caption": "Hysterectomy specimen (Hematoxylin and Eosin) showing malignant mixed müllerian tumor composed of high-grade serous carcinoma with pseudoglandular architecture and high-grade homologous sarcoma (Panel A), heterologous sarcomatous elements represented by chondrosarcoma (Panel B), epithelial component that has invaded the myometrium (Panel C), and lymphatic spaces (Panel D).", "modalities": ["pathology"]}], "diagnosis": "Malignant mixed müllerian tumor (carcinosarcoma) of the uterus, with a PIK3CA mutation", "standardized_diagnosis": [{"original_term": "Malignant mixed müllerian tumor of the uterus", "corrected_term": null, "code": "2C72.3&XA4T57", "title": "Malignant mixed Mullerian tumours[Uterine ligament]", "chapter": "Neoplasms", "primary": true}, {"original_term": "Carcinosarcoma of the uterus", "corrected_term": null, "code": "2C76.43", "title": "Carcinosarcoma of uterus", "chapter": "Neoplasms", "primary": false}]}, "year": 2013, "classification": "Neoplastic diseases"}
+{"pmid": "23635648", "patient_info": {"basic_info": "A 38-year-old white Scottish man with mild learning difficulties (able to read and write but not maintain employment) presented with a three-day history of diplopia and agitation, following seven days of presumed viral gastroenteritis. On examination, he was agitated, mildly confused, tachycardic (115 beats/min, regular), and tachypnoeic (18 breaths/min). He had horizontal nystagmus, with dilated, slowly reacting pupils. Limb movements were clumsy with moderate cerebellar signs and dysdiadochokinesis, but no tremor. He was clinically jaundiced. He gave a history of lifelong alcohol avoidance and had experienced 34 kg weight loss over the preceding three months (from initial weight of 127 kg, BMI 42.4, dropping from 123 kg at four weeks to 110 kg at eight weeks). He reported excluding all identifiable sources of carbohydrate and eating virtually no solid food other than occasional rice crispies and chicken nuggets during his extreme dietary restriction.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23635648/fig/1.jpg"], "caption": "(A) Clinical photograph of the eyes, left lateral gaze, obtained on admission. (B) Clinical photograph of the eyes, right lateral gaze, obtained on admission.", "detailed_caption": "Figure 1 consists of paired clinical photographs of the patient's eyes taken during an examination in which the patient was asked to gaze to the extreme left and right. Image A shows the left lateral gaze, and image B shows the right lateral gaze. These photographs demonstrate bilateral sixth cranial (abducent) nerve palsies, resulting in complete paralysis of the lateral rectus muscles, as evidenced by the failure of both eyes to abduct appropriately. The images were obtained on admission during the acute neurological presentation.", "modalities": ["clinical"]}, {"type": "tab", "id": 1, "subfig": null, "path": ["images/23635648/tab/2.jpg"], "caption": "Laboratory results after admission", "detailed_caption": "Laboratory results on day 1 showed red cell thiamin diphosphate of 132 ng/g haemoglobin (reference 275-675), vitamin C of 3 ��mol/L (reference 15-90), vitamin A of 0.5 μmol/L (reference 1-3), red blood cell vitamin B6 of 139 pmol/g haemoglobin (reference 250-680), selenium of 0.66 μmol/L (reference 0.8-2.0), and folate of 1.4 ng/mL (reference 3.1-20.0). Liver function tests showed bilirubin 48 μmol/L (reference <20), alkaline phosphatase 140 U/L (reference 40-150), alanine aminotransferase 70 U/L (reference <50), and γ-glutamyltransferase 111 U/L (reference <70)", "modalities": ["lab"]}], "diagnosis": "Wernicke's encephalopathy as a result of acute thiamin deficiency", "standardized_diagnosis": [{"original_term": "Wernicke's encephalopathy", "corrected_term": null, "code": "5B5A.10", "title": "Wernicke encephalopathy", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": true}, {"original_term": "Acute thiamine deficiency", "corrected_term": null, "code": "5B5A.Z", "title": "thiamine deficiency", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": false}]}, "year": 2013, "classification": "Neurological disorders"}
+{"pmid": "23690421", "patient_info": {"basic_info": "A 61-year-old white man presented to the emergency department with complaints of severe back pain. He had a previous medical history of hypertension and had undergone an open small bowel resection for an idiopathic small bowel obstruction at age 52 years. He was an otherwise healthy married shoe salesman with two healthy children and no significant family or social history. Initial radiographs demonstrated multiple lumbar fractures, and bone surveys revealed osteolytic lesions involving vertebral segments L4 through T11. Protein electrophoresis and urine assays revealed elevated κ light chains. Physical examination revealed an ill-appearing, slightly malnourished man with moderate abdominal tenderness, temporal wasting, and diffuse muscle atrophy. He presented later with complaints of profound fatigue, malaise, and acute diarrhea accompanied by diffuse abdominal pain. Routine laboratory work revealed amylase >10,000 μ/L, lipase 26 μ/L, lactate dehydrogenase 1,526 μ/L, serum creatinine 1.39, blood urea nitrogen 19, total bilirubin 3.7, direct bilirubin 0.4, AST 56, ALT 66, alkaline phosphatase 121 μ/L, platelets 32,000/mm², WBC 3,200/mm³, hemoglobin 10.4 g/dL, and mean cell volume 91 fL. Additional serologic investigation revealed s-amylase 10,448 μ/L, pancreatic amylase 357 μ/L, urine amylase total 38,832 μ/L, amylase/creatine clearance ratio 4%, ferritin 11,628 ng/mL, iron 78 μg/dL, IgG total 401 mg/dL, IgA 10 mg/dL, IgM 18 mg/dL, quantified serum and urine kappa light chain 110 mg/dL and 1,450 mg/dL respectively, with negative SS-ro antibody, SS-la antibody, antinuclear antibody, double-stranded DNA antibody, rheumatoid factor (7 IU/mL), and prealbumin (14 mg/dL).", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23690421/fig/1.jpg"], "caption": "(A) Bone marrow aspirate, ×10 magnification. (B) Bone marrow aspirate, ×40 magnification. (C, D) Bone marrow aspirate, ×100 magnification. (E) Cytochemical analysis by fluorescent in situ hybridization.", "detailed_caption": "Bone marrow aspirates at ×10 (A), ×40 (B), ×100 (C), and ×100 (D) revealed a complete replacement of normal marrow architecture with plasma cell infiltrates. Note the eccentric nuclei (white arrows), perinuclear hof (black arrow), and clumped chromogranin. Cytochemical analysis by fluorescent in situ hybridization demonstrated monosomy of chromosome 13q, a frequently encountered genetic abnormality in multiple myelomas that is known to be an adverse finding.", "modalities": ["pathology", "genetic"]}], "diagnosis": "s-amylase-producing κ light chain multiple myeloma", "standardized_diagnosis": [{"original_term": "Multiple myeloma", "corrected_term": null, "code": "2A83.1", "title": "multiple myeloma", "chapter": "Neoplasms", "primary": true}]}, "year": 2013, "classification": "Neoplastic diseases"}
+{"pmid": "23482507", "patient_info": {"basic_info": "A 22-year-old female presented with a gradually increasing pelvic mass with tenderness for 1 month. There was no evidence of previous trauma or fever, and no history of other medical or surgical disease and no evidence of pregnancy. On physical examination, there was a palpable mass with tenderness in her left pelvic area.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/23482507/fig/1.jpg"], "caption": "Plain radiograph of pelvis.", "detailed_caption": "Plain radiograph of pelvis shows huge, geographic osteolytic lesion with thick, irregular sclerotic rim in left ilium.", "modalities": ["x-ray"]}, {"type": "fig", "id": 1, "subfig": "B, C", "path": ["images/23482507/fig/2.jpg"], "caption": "(B) Precontrast CT of the left ilium. (C) Contrast-enhanced CT of the left ilium.", "detailed_caption": "On precontrast CT image (B), there is irregular, large osteolytic lesion in left ilium with exophytic soft tissue mass and stippled calcifications. On contrast-enhanced CT (C), mass shows heterogeneous enhancement with irregular, rim and septal enhancement.", "modalities": ["ct"]}, {"type": "fig", "id": 1, "subfig": "D-F", "path": ["images/23482507/fig/3.jpg"], "caption": "(D) MRI, T1-weighted sequence. (E) MRI, fat-suppressed T2-weighted sequence. (F) MRI after gadolinium enhancement.", "detailed_caption": "On MRI, mass has heterogeneous intermediate signal on T1-weighted image (D), heterogeneous high signal on fat suppressed T2-weighted image (E), and thick irregular low signal septa on T1 and T2-weighted images. After enhancement with gadolinium, mass shows heterogeneous enhancement and non-enhanced septa (F).", "modalities": ["mri"]}, {"type": "fig", "id": 1, "subfig": "G", "path": ["images/23482507/fig/4.jpg"], "caption": "99mTc hydroxymethane diphosphonate bone scan, anterior view.", "detailed_caption": "99mTc hydroxymethane diphosphonate bone scan. Anterior view shows increased peripheral isotope uptake of left iliac bone lesion.", "modalities": ["pet/spect/nuclear"]}, {"type": "fig", "id": 1, "subfig": "H-J", "path": ["images/23482507/fig/5.jpg"], "caption": "(H) 18F-FDG PET maximum intensity projection. (I) 18F-FDG PET, axial view, maximum SUV=5.1. (J) 18F-FDG PET/CT fusion, axial view, maximum SUV=5.1.", "detailed_caption": " 18F-FDG PET MIP (H), PET axial (I), and PET/CT fusion axial (J) images show heterogeneously increased FDG uptake of left iliac bone lesion (maximum SUV = 5.1).  18F-FDG = 2-fluoro [fluroine-18]-2-deoxy-D-glucose", "modalities": ["pet/spect/nuclear", "ct"]}, {"type": "fig", "id": 1, "subfig": "K", "path": ["images/23482507/fig/6.jpg"], "caption": "Photomicrograph, H&E staining, 200× magnification.", "detailed_caption": "Photomicrograph shows dilated blood-filled vessels lined by flattened endothelial cells (H/E, x 200).", "modalities": ["pathology"]}], "diagnosis": "Cavernous hemangioma of the ilium", "standardized_diagnosis": [{"original_term": "Cavernous hemangioma of bone", "corrected_term": null, "code": "2E81.0Z", "title": "Cavernous haemangioma of unspecified site", "chapter": "Neoplasms", "primary": true}]}, "year": 2013, "classification": "Orthopedic and connective tissue disorders"}
+{"pmid": "23680354", "patient_info": {"basic_info": "Patient 1 (P1) is a 6-year-3-month-old female of Indian origin from Andhra Pradesh, born to first cousin parents in a multiply consanguineous family. She was born at term via normal vaginal delivery with birth weight of 3.2 kg (25th centile) following a pregnancy complicated by maternal hypertension. She presented with mild neonatal hypotonia and slender, generally hypermobile fingers with bilateral contractures of the fifth digits preventing full extension. Skin hyperelasticity was reported in infancy. Motor milestones were achieved slightly later than average due to hypotonia, while language and social milestones were appropriate. At age 4, she experienced spontaneous vertical Descemet's membrane splitting in the right cornea resulting in corneal edema, and the left cornea was noted to be thin. She subsequently sustained a corneal rupture in her left eye at age 4 years 3 months with subsequent total visual loss, and has very little residual vision in her right eye. Pure tone audiometry at 4.5 years showed bilateral mild hearing loss. Tympanometry was consistent with hypercompliant tympanic membranes with hypermobility of the ossicular chain. Physical examination at age 4 showed height and weight above average (75th and 95th centiles respectively), soft but not hyperextensible skin with no abnormal bruising or scarring, prominent fetal fingertip pads, and pes planus. No fractures, joint dislocations, or developmental hip dysplasia were present. An echocardiogram at age 3 showed mitral valve prolapse and mild mitral regurgitation with normal aortic root diameter.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/23680354/tab/1.jpg"], "caption": "Table summarizing clinical, genetic, and phenotypic features of three individuals with brittle cornea syndrome.", "detailed_caption": "Table 1, found on page 3, summarizes the salient clinical findings of three novel affected individuals (P1, P2, and P3) with brittle cornea syndrome from unrelated families, presenting data on features such as age at diagnosis, gender, origin, consanguinity, specific ZNF469 mutations, and presence or absence (with degree indicated as ++, +, or −) of major clinical manifestations including bluish sclera, corneal rupture, keratoconus or keratoglobus, skin and joint involvement, Beighton score, developmental delays, hearing impairment, fractures, and cardiovascular abnormalities; the table serves as a concise comparative overview of the genotype and phenotype correlations in these cases.", "modalities": ["clinical", "genetic"]}], "diagnosis": "Brittle cornea syndrome (BCS) caused by homozygous ZNF469 mutation", "standardized_diagnosis": [{"original_term": "Brittle cornea syndrome", "corrected_term": null, "code": "LD28.1Y", "title": "Brittle cornea syndrome", "chapter": "Diseases of the skin", "primary": true}]}, "year": 2013, "classification": "Genetic and congenital disorders"}
+{"pmid": "23650405", "patient_info": {"basic_info": "A 75-year-old man was found to have lymphocytosis incidentally on a preoperative complete blood count that showed normal hemoglobin and platelet count, with total white blood cell count of 11.9 × 10^9/L and absolute B-cell lymphocyte count of 5.67 × 10^9/L. Peripheral blood flow cytometry revealed a kappa light chain restricted B-cell clone that was CD5+, CD23+, CD19+, CD20 (dim), ZAP-70+, and CD38+. Immunoglobulin variable region heavy chain gene sequencing did not detect a functional gene. Bone marrow biopsy was hypercellular (40%) with a nodular interstitial infiltrate of CLL cells (30% to 40%). Conventional cytogenetics and interphase fluorescent in situ hybridization showed trisomy 12. Physical examination revealed no palpable lymphadenopathy or hepatosplenomegaly, corresponding to clinical stage Rai 0. Approximately one year after diagnosis, he developed right eye pain associated with blurry vision, floaters, and bright halos. When evaluated at Mayo Hematology Clinic, his white blood cell count had increased to 48.7 × 10^9/L with an absolute lymphocyte count of 34.9 × 10^9/L. Initial MRI of his orbits was reported as normal. CSF analysis revealed lymphocytosis but was not initially characterized by flow cytometry. Later repeat CSF analysis demonstrated 29 total nucleated cells per μL with 96% lymphocytes, normal CSF glucose and protein levels, and flow cytometry showed 50% of lymphocytes were clonal (kappa light chain restricted) with immunophenotype compatible with CLL. No oligoclonal bands were seen in CSF, and CSF immunoglobulin G index was 0.6 (normal <0.85). After corticosteroid taper, he developed marked visual field loss in the right eye. Subsequent CSF analysis showed 20 total nucleated cells per μL with 87% lymphocytes (35% clonal). Serum and CSF testing were negative for Cryptococcus, toxoplasmosis, herpes zoster, John Cunningham virus, human herpesvirus 6, herpes simplex, Epstein-Barr virus, and cytomegalovirus infections. Serum angiotensin-converting enzyme was not elevated.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/23650405/fig/1.jpg"], "caption": "Funduscopic examination of the right eye.", "detailed_caption": "Funduscopic examination shows persistent right eye disc edema, blurring, and peripapillary hemorrhages.", "modalities": ["ophthalmic imaging"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/23650405/fig/2.jpg"], "caption": "Funduscopic color photograph of the right eye optic disc.", "detailed_caption": "B: Funduscopic color photograph of the right eye optic disc demonstrating progressive chronic changes including papilledema and blurring, consistent with either perioptic nerve infiltration or chronic papilledema, acquired during the course of visual field loss after corticosteroid dose taper in a patient with chronic lymphocytic leukemia.", "modalities": ["ophthalmic imaging"]}, {"type": "fig", "id": 2, "subfig": "A", "path": ["images/23650405/fig/3.jpg"], "caption": "MRI T1-weighted images of the right optic nerve.", "detailed_caption": "MRI T1-weighted images show abnormal enhancement of the right optic nerve (indicated by red circle).", "modalities": ["mri"]}], "diagnosis": "Optic nerve infiltration by CLL", "standardized_diagnosis": [{"original_term": "Chronic lymphocytic leukemia", "corrected_term": null, "code": "2A82.00", "title": "chronic lymphocytic leukaemia", "chapter": "Neoplasms", "primary": false}, {"original_term": "Optic nerve infiltration", "corrected_term": null, "code": "9C40.Z", "title": "Disorder of the optic nerve", "chapter": "Diseases of the visual system", "primary": true}]}, "year": 2013, "classification": "Neoplastic diseases"}
+{"pmid": "23628749", "patient_info": {"basic_info": "A 29-year-old right-hand dominant male chef presented to the emergency department with a four-day history of feeling \"not normal.\" He experienced gradual onset of dull pain on the left side of his neck radiating up into his head that was progressively worsening, along with diplopia (\"seeing two of everything\"). The pain was not influenced by changes in posture. He also reported right-sided numbness, dropping things at work, and feeling unsteady on his feet. He denied recent alcohol consumption, illicit drug use, seizure activity, head injury, or loss of consciousness. His medical history included hypothyroidism treated with thyroxine. On examination, he was alert and oriented with blood pressure of 141/94 mmHg and normal other vital signs. He had moderate weakness on the right side (Medical Research Council grade 4), mainly in the upper limb, with pronator drift, and reduced sensation to pinprick, light touch, and proprioception on the same side. There was evidence of resting and intention tremor with dysdiadochokinesia of the upper limbs, more evident on the right side. He had a broad-based gait consistent with cerebellar ataxia. He had an upgoing plantar response on the right and downgoing on the left. His pupils were equal and reactive to light, but he had diplopia on both extremes of gaze without clinical evidence of ocular palsy. No papilloedema was detected on fundoscopy.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23628749/fig/1.jpg"], "caption": "CT head scan, initial examination.", "detailed_caption": "Initial computed tomography head scan performed to rule out serious disease.", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/23628749/fig/2.jpg"], "caption": "CT of the head, performed during initial imaging.", "detailed_caption": "Additional computed tomography head scan performed as part of initial imaging.", "modalities": ["ct"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/23628749/fig/3.jpg"], "caption": "CT of the brain, brainstem region, dorsal pons, adjacent to the fourth ventricle.", "detailed_caption": "Computed tomography shows hyperdensity within the brainstem in the area of the dorsal pons, adjacent to the fourth ventricle, representing an acute parenchymal haematoma within the posterior midline of the pons.", "modalities": ["ct"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/23628749/fig/4.jpg"], "caption": "CT of the foramen magnum.", "detailed_caption": "Computed tomography shows evidence of tonsillar herniation, with effacement of the cerebrospinal fluid space at the foramen magnum where cerebrospinal fluid space has been replaced by cerebral parenchymal tissue.", "modalities": ["ct"]}, {"type": "fig", "id": 5, "subfig": null, "path": ["images/23628749/fig/5.jpg"], "caption": "CT of the brain.", "detailed_caption": "Computed tomography shows large prominent lateral ventricles, indicative of hydrocephalus.", "modalities": ["ct"]}, {"type": "fig", "id": 6, "subfig": null, "path": ["images/23628749/fig/6.jpg"], "caption": "T1-weighted sagittal FLAIR MRI scan of the brain (pons and cerebellar region), without gadolinium.", "detailed_caption": "T1 weighted sagittal FLAIR magnetic resonance imaging scan (without gadolinium) shows a well circumscribed heterogeneous lesion within the pons and descent of the cerebellar tonsils through the foramen magnum by 12 mm, consistent with Chiari I malformation.", "modalities": ["mri"]}, {"type": "fig", "id": 7, "subfig": null, "path": ["images/23628749/fig/7.jpg"], "caption": "T2-weighted axial MRI of the brain, without gadolinium.", "detailed_caption": "T2 weighted axial magnetic resonance imaging scan (without gadolinium) shows the typical \"popcorn\" appearance of a cerebral cavernous malformation and a peripheral rim of hypointensity consisting of surrounding oedema and deposition of haemosiderin.", "modalities": ["mri"]}], "diagnosis": "Pontine cavernous malformation with acute hemorrhage", "standardized_diagnosis": [{"original_term": "Pontine cavernous malformation", "corrected_term": null, "code": "8B00.2/8B22.41", "title": "pontine haemorrhage[Cerebral cavernous malformation]", "chapter": "Diseases of the nervous system", "primary": true}, {"original_term": "Acute hemorrhage", "corrected_term": null, "code": "DB98.A&XT5R", "title": "Hepatic haemorrhage[Acute]", "chapter": "Diseases of the digestive system", "primary": false}]}, "year": 2013, "classification": "Neurological disorders"}
+{"pmid": "23614590", "patient_info": {"basic_info": "A 6-year-old girl presented with a 1-year history of intermittent bone and joint pain and recent onset of fever and abdominal distention. The patient had been well until 1 year before admission when she fell on her left hand and experienced migratory joint pain. Over the following year, she developed intermittent rib pain, right knee pain with limping, and left flank pain that radiated to her left leg. Six days before admission, she developed back pain, limping, and intermittent fever up to 39.8°C. The day before admission, she developed periorbital swelling, abdominal distention, and periumbilical discoloration. On examination, she was febrile (38.7°C), had bilateral periorbital discoloration, and a soft, nontender abdomen. She exhibited slight limping and flinching with external rotation of the right hip. Her height was 123.8 cm and weight 27.2 kg. Past medical history included gastroesophageal reflux as an infant and pollen allergy with allergic rhinitis. Family history was notable for paternal grandmother with rheumatoid arthritis and breast cancer, and no family history of childhood arthritis or other autoimmune conditions.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/23614590/tab/1.jpg"], "caption": "Laboratory results over time.", "detailed_caption": "Laboratory values over time showed progressive anemia (hematocrit declining from 35.6% to 30.9%, hemoglobin from 12.0 to 10.6 g/dl), persistently elevated erythrocyte sedimentation rate (41-66 mm/hr), elevated C-reactive protein (3.0-8.3 mg/dl), reticulocytes 3.0%, prolonged prothrombin time 14.4 sec with INR 1.2, elevated lactate dehydrogenase 517 U/liter, and elevated ferritin 470 ng/ml. Lyme disease antibodies were negative on multiple occasions.", "modalities": ["lab"]}, {"type": "fig", "id": 1, "subfig": null, "path": ["images/23614590/fig/2.jpg"], "caption": "(A) CT of the left axilla and left humerus. (B) CT of the abdomen, liver, and kidneys. (C) CT of the retroperitoneum and kidneys. (D) CT of the abdomen and pelvis.", "detailed_caption": "CT images show left axillary lymphadenopathy (Panel A, arrow) and retroperitoneal lymphadenopathy (Panel C, arrow). Multiple soft-tissue hypodense lesions in the liver (Panel B) and kidneys (Panels B and C) and a large dominant abdominal–pelvic mass (Panel D, arrow) are apparent. There are lytic lesions in the left humerus (Panel A, arrowhead).", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/23614590/fig/3.jpg"], "caption": "(A) FDG-PET/CT of the chest, left axillary lymph node. (B) FDG-PET/CT of the abdomen and pelvis, abdominal–pelvic mass. (C) FDG-PET/CT of the abdomen, liver lesions. (D) FDG-PET/CT of the skeleton, left humerus.", "detailed_caption": "Images from an 18F-fluorodeoxyglucose–positron-emission tomographic (FDG-PET) scan were fused with CT images of the chest and abdomen with color overlay. There is increased FDG avidity in the left axillary lymph node (Panel A, arrow), the abdominal–pelvic mass (Panel B, arrow), and the liver lesions (Panel C, arrow). There are scattered foci of increased FDG avidity in the skeleton, most prominently in the left humerus (Panel D, arrowhead).", "modalities": ["pet/spect/nuclear", "ct"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/23614590/fig/4.jpg"], "caption": "(A) Biopsy of abdominal–pelvic mass, H&E staining. (A, inset) Immunoperoxidase staining for TdT. (B) Bone marrow aspirate smear, Wright–Giemsa staining. (C) Flow-cytometric analysis of bone marrow aspirate, CD10-positive, CD19-positive cells. (D) Flow-cytometric analysis of bone marrow aspirate, weak CD45-positive, CD33-positive cells.", "detailed_caption": "Examination of a biopsy specimen from the abdominal–pelvic mass shows a monotonous population of cells with finely dispersed chromatin and scant cytoplasm (Panel A, hematoxylin and eosin). Immunohistochemical studies of these primitive-appearing cells show coexpression of terminal deoxynucleotidyl transferase (TdT), a marker of lymphoid blasts (Panel A, inset; immunoperoxidase), and CD10 (not shown), as well as positivity for the B-cell marker PAX5 (not shown). The morphologic and immunophenotypic findings are consistent with B lymphoblasts. A bone marrow aspirate smear (Panel B, Wright–Giemsa) shows a predominant population of small and medium-size lymphoid blasts with dispersed chromatin, small distinct nucleoli, scant cytoplasm, and occasional cytoplasmic vacuoles. Flow-cytometric analysis of the bone marrow aspirate confirmed the presence of a population of CD10-\npositive, CD19-positive cells (Panel C, circle) that were also positive for TdT and negative for the mature B-cell marker CD20 (not shown). The B lymphoblasts showed weak CD45-positivity and aberrantly expressed the myeloid marker CD33 (Panel D, circle).", "modalities": ["pathology", "lab"]}], "diagnosis": "B-cell lymphoblastic leukemia-lymphoma", "standardized_diagnosis": [{"original_term": "B-cell lymphoblastic leukemia", "corrected_term": null, "code": "2B33.3", "title": "acute lymphoblastic leukaemia", "chapter": "Neoplasms", "primary": true}, {"original_term": "B-cell lymphoblastic lymphoma", "corrected_term": null, "code": "2A70.0", "title": "Lymphoblastic B-cell lymphoma", "chapter": "Neoplasms", "primary": false}]}, "year": 2013, "classification": "Neoplastic diseases"}
+{"pmid": "23675661", "patient_info": {"basic_info": "A 76-year-old man with chronic renal disease, renal obstruction, and a 10-year history of recurrent urinary tract infections presented with fever, worsening renal function, and confusion. He had been well until approximately 1 week before admission when subjective fevers and increasing urinary frequency developed. Two days before admission, fatigue and increasing somnolence developed, followed by confusion and difficulty placing a thermometer in his mouth. On examination, he was warm, diaphoretic, and obtunded with nonverbal moaning. The conjunctivae were injected, he was unable to follow commands or track his eyes, had a possible tongue bite, neck stiffness without pain, bronchial breath sounds throughout all lung fields, right lower quadrant tenderness with wincing, and neurologic findings including 4 mm pupils constricting to 3 mm with light, increased tone in arms with cogwheel rigidity and myoclonus. His medical history included hypercholesterolemia, hypertension, paroxysmal atrial fibrillation, premature ventricular contractions, allergic rhinitis, basal-cell carcinoma, and orthopedic injuries from a motor vehicle accident. He had recent bilateral hydronephrosis with worsening chronic renal failure and had undergone photoselective vaporization of the prostate 2 months prior. He recently visited a forested region of New England with heavy tick and mosquito burdens.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/23675661/tab/1.jpg"], "caption": "Laboratory blood test results. Cerebrospinal fluid analysis including opening pressure, cell counts, glucose, protein, and Gram's stain.", "detailed_caption": "Blood tests showed white-cell count 11,500/mm³ with 86% neutrophils and 8% lymphocytes, platelet count 59,000/mm³, sodium 134 mmol/L, potassium 4.6 mmol/L, urea nitrogen 34 mg/dL, creatinine 2.26 mg/dL, estimated GFR 28 mL/min/1.73m², and haptoglobin 345 mg/dL. Cerebrospinal fluid showed opening pressure 21.5 cm H2O, pink to faint yellow color with xanthochromia, red cells 1660/mm³ (tube 1) to 116/mm³ (tube 4), white cells 159/mm³ (tube 1) to 170/mm³ (tube 4) with 47% neutrophils and 40% lymphocytes, protein 130 mg/dL, glucose 56 mg/dL, and Gram's stain showing abundant polymorphonuclear leukocytes with no organisms.", "modalities": ["lab"]}, {"type": "fig", "id": 1, "subfig": null, "path": ["images/23675661/fig/2.jpg"], "caption": "(A) MRI of the brain performed on the third hospital day, diffusion-weighted imaging. (B) MRI of the brain performed on the third hospital day, apparent-diffusion-coefficient imaging.", "detailed_caption": "MRI of the brain performed on the third hospital day revealed an abnormal signal in the occipital horns of the lateral ventricles that was hyperintense on the dif-\nfusion-weighted images (Panel A, arrow) and hypointense on the apparent-diffusion-coefficient images (Panel B, arrow), findings consistent with material with reduced diffusion.", "modalities": ["mri"]}, {"type": "tab", "id": 2, "subfig": null, "path": ["images/23675661/tab/3.jpg"], "caption": "Cerebrospinal fluid and serum laboratory testing for arbovirus infection, including IgM and IgG assays and plaque-reduction neutralization test.", "detailed_caption": "Cerebrospinal fluid and serum testing for arbovirus infection showed West Nile virus IgM positive in CSF, IgG negative in CSF, serum IgM positive, serum IgG positive, and plaque-reduction neutralization test positive. St. Louis encephalitis virus IgG was positive in CSF but IgM was negative. Eastern equine encephalitis virus testing was negative overall.", "modalities": ["lab"]}], "diagnosis": "West Nile virus meningoencephalitis", "standardized_diagnosis": [{"original_term": "West Nile virus meningoencephalitis", "corrected_term": null, "code": "1C80", "title": "viral meningoencephalitis NOS", "chapter": "Certain infectious or parasitic diseases", "primary": true}]}, "year": 2013, "classification": "Infectious and immunologic disorders"}
+{"pmid": "23715581", "patient_info": {"basic_info": "A 72-year-old woman with non-small-cell lung cancer (NSCLC) and bone metastasis presented with a 5-month history of severe scalp involvement. She had been receiving gefitinib 250 mg per day and ficlatuzumab 20 mg/kg once every 2 weeks for 9 months at the time of presentation. Her symptoms began with a papulopustular rash over the face and trunk in the first month of treatment, followed by severe paronychia beginning in the second month. Bacterial culture from the scalp lesions yielded Staphylococcus aureus, while fungal and mycobacterial cultures were negative. The scalp lesions persisted despite 3 months of strong topical therapies including fluocinonide cream and fusidic acid cream, as well as oral doxycycline for 1 month.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/23715581/fig/1.jpg"], "caption": "Clinical photograph of the scalp.", "detailed_caption": "Clinical photograph showing severe pustules, crusts, and dramatic hair loss over the scalp with inflammatory changes", "modalities": ["clinical"]}, {"type": "fig", "id": 1, "subfig": "C", "path": ["images/23715581/fig/2.jpg"], "caption": "Skin biopsy.", "detailed_caption": "Skin biopsy showing upper dermal perivascular and perifollicular lymphoplasmacytic infiltration with fibrosis and vascular ectasia, compatible with late-stage scarring alopecia", "modalities": ["pathology"]}, {"type": "fig", "id": 2, "subfig": "Subfigs: G, H, I", "path": ["images/23715581/fig/3.jpg"], "caption": "Immunohistochemical examination of hair follicle outer root sheath. current patient marked as Case 1.", "detailed_caption": "Immunohistochemical examination showing decreased expression of epidermal growth factor receptor (EGFR), phosphorylated acutely transforming retrovirus AKT8 in rodent T-cell lymphoma (p-Akt), and phosphorylated signal transducer and activator of transcription 3 (p-Stat3) in the outer root sheath of the patient's hair follicles compared with positive controls. p-MET expression was not detected in the patient's hair follicles", "modalities": ["pathology"]}], "diagnosis": "Severe refractory scarring alopecia associated with combinational use of ficlatuzumab (AV-299) and gefitinib", "standardized_diagnosis": [{"original_term": "Severe refractory scarring alopecia", "corrected_term": null, "code": "ED70.5Z", "title": "Scarring alopecia", "chapter": "Diseases of the skin", "primary": true}]}, "year": 2013, "classification": "Dermatologic and mucosal diseases"}
+{"pmid": "23727167", "patient_info": {"basic_info": "Patient 1 is a 64-year-old man who visited Dubai from April 9 to April 17, 2013. He has a medical history significant for hypertension, diabetes, and underwent renal transplantation in 1998 for diabetic nephropathy. He was on immunosuppressive therapy including mycophenolate mofetil, ciclosporin, and prednisone. He also had a previous episode of sigmoiditis treated 6 months prior. On April 22, he developed fever and chills with diarrhea (three to four bowel movements per day). He was admitted to Valenciennes hospital on April 23. At admission, he had no respiratory symptoms such as cough or dyspnea. On April 26, he developed dyspnea and cough.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/23727167/tab/1.jpg"], "caption": "Laboratory results on April 23 and April 29, including leucocyte counts, neutrophil and lymphocyte percentages, creatinine, blood urea nitrogen, C-reactive protein, platelet count, and arterial blood gas analysis.", "detailed_caption": "Laboratory values showed initial leucopenia (8240 cells/μL on April 23) progressing to normal leucocyte counts with neutrophilia (87% neutrophils, 7% lymphocytes on April 29). Elevated creatinine levels ranged from 177-318.6 μmol/L (normal 40-130), and blood urea nitrogen was markedly elevated at 23.7-41.6 mmol/L (normal 1.2-3.3). C-reactive protein was significantly elevated at 152.30-206.40 mg/L (normal <5). Platelet counts varied from 55,000-309,000 cells/μL. Arterial blood gas analysis showed progressive respiratory failure with declining oxygenation despite increasing oxygen support.", "modalities": ["lab"]}, {"type": "fig", "id": 1, "subfig": null, "path": ["images/23727167/fig/2.jpg"], "caption": "(A) Chest CT, performed on April 24. (B) Chest radiograph, performed on April 30. (C) Chest radiograph, performed on May 8. (D) Chest CT, performed on May 17.", "detailed_caption": "(A) CT scans of the chest obtained on April 24. Substantial bilateral ground-glass opacity and consolidation can be seen. (B, C) Chest radiographs. Groundglass opacity and condensation, mainly on the lower right lobe, were noted on April 30 (B). Bilateral ground-glass opacity and consolidation were noted on May 8 (C). (D) On May 17, the CT scan of the chest showed a bilateral consolidation of the lung.", "modalities": ["ct", "x-ray"]}, {"type": "tab", "id": 3, "subfig": null, "path": ["images/23727167/tab/3.jpg"], "caption": "Bronchoalveolar lavage on April 26, viral testing (Ct values: upE 22.9, Orf1a 24). Nasopharyngeal swabs on April 30, viral testing (Ct values: 37.2-40). Sputum on May 7, viral testing (Ct values: upE 28.8, Orf1a 27.2). Whole blood, plasma, and serum viral testing on May 7 and 9 (whole blood Ct 35.9).", "detailed_caption": "Viral testing results showed MERS-CoV detection with high viral loads in lower respiratory tract specimens. Bronchoalveolar lavage from April 26 showed cycle threshold (Ct) values of 22.9 for upE and 24 for Orf1a. Nasopharyngeal swabs from April 30 showed much higher Ct values (37.2-40), indicating lower viral loads. Sputum from May 7 showed Ct values of 28.8 for upE and 27.2 for Orf1a. Blood specimens from May 7 and 9 showed detectable virus in whole blood (Ct 35.9) with weaker detection in plasma and serum.", "modalities": ["lab"]}], "diagnosis": "Middle East Respiratory Syndrome coronavirus (MERS-CoV) infection", "standardized_diagnosis": [{"original_term": "Middle East Respiratory Syndrome coronavirus infection", "corrected_term": null, "code": "1D64", "title": "Middle East respiratory syndrome", "chapter": "Certain infectious or parasitic diseases", "primary": true}]}, "year": 2013, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "23733776", "patient_info": {"basic_info": "77-year-old man with history of ischemic heart disease presented with a hard lump in the chest wall. Four years prior, he had undergone right hemicolectomy for pT3 pN1 moderately differentiated cecal adenocarcinoma (KRAS and BRAF wild type). He had developed multiple bilobar liver metastases 22 months after the initial surgery. Physical examination revealed several hard nodules and a 2.4-cm hard, nontender lump in the tenth right intercostal space, fixed to intercostal muscles and serratus anterior. Total area of chest wall involvement measured 7.1 cm in diameter. Blood tests were normal, including serum carcinoembryonic antigen.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/23733776/fig/1.jpg"], "caption": "PET/CT scan of the liver and chest wall, standardized uptake value provided.", "detailed_caption": "PET/CT scan showed tumor recurrence adjacent to previous RFA site in liver segment 5 and uptake in chest wall with similar standardized uptake value activity", "modalities": ["pet/spect/nuclear", "ct"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/23733776/fig/2.jpg"], "caption": "CT with portal venous contrast of chest wall and liver.", "detailed_caption": "Portal venous contrast-enhanced CT showed areas of local recurrence in both chest wall and liver", "modalities": ["ct"]}], "diagnosis": "Tract seeding of colorectal cancer metastases following thermal ablation, with recurrence in chest wall and liver", "standardized_diagnosis": [{"original_term": "Colorectal cancer", "corrected_term": null, "code": "2B91.Z", "title": "colorectal cancer NOS", "chapter": "Diseases of the digestive system", "primary": false}, {"original_term": "Colorectal cancer metastases", "corrected_term": null, "code": "2D85", "title": "Malignant neoplasm metastasis in rectum", "chapter": "Diseases of the digestive system", "primary": true}, {"original_term": "Chest wall metastasis", "corrected_term": null, "code": "2E0Y", "title": "Malignant neoplasm metastasis in chest wall", "chapter": "Neoplasms", "primary": false}, {"original_term": "Liver metastasis", "corrected_term": null, "code": "2D80.0", "title": "hepatic metastasis", "chapter": "Diseases of the digestive system", "primary": false}]}, "year": 2013, "classification": "Neoplastic diseases"}
+{"pmid": "23733774", "patient_info": {"basic_info": "A 55-year-old woman with a 13-year history of invasive ductal carcinoma of the right breast presented with stage IV breast cancer (estrogen receptor positive, progesterone receptor negative, human epidermal growth factor receptor 2/neu negative) metastatic to bone, lungs, and liver. She had undergone mastectomy and multiple systemic therapies, including stem-cell transplantation 8 years prior. Her most recent treatment prior to admission was anastrozole for 3 months, along with paracetamol for pain control. She presented with progressive generalized weakness and episodic confusion that rapidly progressed over several days to unresponsiveness. On the day of admission, she was found by her husband lying on the floor, was disoriented, had lower leg weakness, and was unable to understand basic instructions. Physical examination revealed she was awake but unresponsive and uncooperative, with no other focal neurologic findings initially. Vital signs showed normal blood pressure with mild tachycardia but no fever. Her past medical history was otherwise unremarkable, and she had a normal baseline brain MRI scan 2 weeks before presentation.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23733774/fig/1.jpg"], "caption": "(A) Brain MRI, axial view, fluid-attenuated inversion recovery (FLAIR) sequence. (B) Brain MRI, diffusion-weighted imaging (DWI). (C) Brain MRI, susceptibility-weighted imaging (SWI).", "detailed_caption": "Axial fluid-attenuated inversion recovery brain MRI (A) demonstrated areas of vasogenic edema within the subcortical white matter and cortex of the parietal lobes and within the deep white matter of the mid and posterior frontal lobes consistent with posterior reversible encephalopathy syndrome (PRES). Diffusion-weighted imaging (B) showed diffusion restriction with associated apparent diffusion coefficient dropout in the areas of vasogenic edema consistent with superimposed infarction. Susceptibility-weighted imaging (C) demonstrated multiple tiny foci of dark signal intensity within areas of PRES-related vasogenic edema consistent with superimposed microhemorrhage. There were no metastatic brain lesions, no hydrocephalus or herniation.", "modalities": ["mri"]}], "diagnosis": "Posterior reversible encephalopathy syndrome (PRES)", "standardized_diagnosis": [{"original_term": "Posterior reversible encephalopathy syndrome", "corrected_term": null, "code": "8B22.Y", "title": "Posterior reversible encephalopathy", "chapter": "Diseases of the nervous system", "primary": true}]}, "year": 2013, "classification": "Neurological disorders"}
+{"pmid": "23697517", "patient_info": {"basic_info": "A 12-year-old girl with a known history of celiac disease presented with an 8-month progression of severe irritability, hypersomnia, and multiple somatic symptoms. She experienced daily stomachaches, tingling and pain in her arms and legs, dizziness, anorexia, severe fatigue, and increased somnolence with sleeping up to 13 hours per night. She had frequent angry outbursts and became increasingly isolated from friends, lost interest in activities, had deteriorating school performance, and failed mathematics. She had a prior history of anxiety and depression, previously treated with escitalopram and cognitive behavioral therapy. Three episodes of severe vomiting requiring IV hydration occurred in the 16 months before evaluation, each preceded by fever and viral symptoms. On physical examination, she appeared exhausted with blood pressure 83/52 mmHg, pulse 102 bpm, weight 35.4 kg, height 149.9 cm, and BMI 15.8 (12th percentile). She had freckled skin with multiple dark nevi and slight axillary hyperpigmentation. Neurological examination showed brisk reflexes with 2-3 beats of unsustained clonus on the right foot. Mental status examination revealed withdrawn and disengaged presentation with sad and apathetic affect, sparse and slow speech, limited eye contact, and she fell asleep in the waiting area.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/23697517/tab/1.jpg"], "caption": "Laboratory results at initial and subsequent time points.", "detailed_caption": "Laboratory results showed normal red-cell indices and thyroid function tests initially, with negative heterophile antibody. At 4.5 months before evaluation: hematocrit 35.3%, hemoglobin 11.9 g/dl, white cell count 3600/mm³, free thyroxine 0.9 ng/dl, thyrotropin 3.43 μU/ml. Later testing revealed hyponatremia (133 mmol/L), hyperkalemia (5.2 mmol/L), hypochloremia (93 mmol/L), elevated urea nitrogen (22 mg/dl), hypercalcemia (10.6 mg/dl), elevated alkaline phosphatase (235 U/L), and elevated aspartate aminotransferase (63 U/L).", "modalities": ["lab"]}, {"type": "fig", "id": 1, "subfig": null, "path": ["images/23697517/fig/2.jpg"], "caption": "(A) Duodenal mucosa, histological examination. (B) Duodenal mucosa, histological examination.", "detailed_caption": "The duodenal mucosa shows subtotal villous atrophy and crypt hyperplasia (Panel A). The number of intra-epithelial lymphocytes is markedly increased (Panel B, arrows).", "modalities": ["pathology"]}], "diagnosis": "Celiac disease, Addison's disease, and major depressive disorder", "standardized_diagnosis": [{"original_term": "Celiac disease", "corrected_term": null, "code": "DA95", "title": "Coeliac disease", "chapter": "Diseases of the digestive system", "primary": true}, {"original_term": "Addison's disease", "corrected_term": null, "code": "5A74.0", "title": "Addison disease", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": false}, {"original_term": "Major depressive disorder", "corrected_term": null, "code": "6A70.3", "title": "major depressive disorder", "chapter": "Mental, behavioural or neurodevelopmental disorders", "primary": false}]}, "year": 2013, "classification": "Endocrine and metabolic disorders"}
+{"pmid": "23738548", "patient_info": {"basic_info": "A 65-year-old man presented with a 4-month history of daily fevers, sweats, fatigue, impaired concentration, and progressive weakness that had developed after being previously well. His strength had gradually diminished over several weeks, preventing him from hiking, with fatigue on chewing, difficulty buttoning his shirt, and requiring a rigid foot brace for his right ankle. He reported pain in his feet and calves that was sufficiently distracting to prevent reading, but denied jaw pain, headaches, joint swelling, rash, or weight loss. His medical history included coronary artery bypass grafting 15 months prior complicated by upper abdominal hernia repair with surgical mesh, hepatitis B virus infection, gout, hyperlipidemia, hypertension, gastroesophageal reflux, and hypothyroidism. He had received a diagnosis of HBV infection 4 months before symptom onset during evaluation of elevated aminotransferases (six times upper normal limit) discovered during hernia repair, with positive IgM anti-HBc and HBsAg. On physical examination, he was afebrile with vital signs showing pulse 76 bpm, blood pressure 140/88 mmHg, and BMI 27.1. He appeared comfortable with no lymphadenopathy or temporal artery tenderness. Neurologic examination revealed normal proximal arm strength but decreased strength in bilateral wrists (4/5), fingers (2/5 left, 4/5 right), right hip flexion (4/5), right foot dorsiflexion (0/5), and bilateral great toes. There was interosseous muscle wasting in the left hand, decreased right calf circumference compared to left, symmetric arm reflexes but absent knee and ankle reflexes, no fasciculations, diminished sensation in hands (ulnar distribution right, median distribution left), and diminished vibration sense and nociception in feet with profound right foot drop on ambulation.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23738548/fig/1.jpg"], "caption": "(A) Nerve biopsy, hematoxylin and eosin staining. (B) Nerve biopsy, immunohistochemical staining with CD3. (C) Nerve biopsy, immunohistochemical staining with CD20. (D) Nerve biopsy, toluidine blue staining, semithin section.", "detailed_caption": "Specimens from a nerve biopsy show vasculitis and nerve-fiber loss. A marked inflammatory infiltrate is present in the wall of a medium-size vessel in the epineurium (Panel A, hematoxylin and eosin). The infiltrate consists predominantly of CD3-positive T cells (Panel B, immunohistochemical staining with CD3), with fewer CD20-positive B cells (Panel C, immunohistochemical staining with CD20). Semithin sections show destruction of nerve fibers in the endoneurial compartment, with acute and chronic breakdown of myelin (Panel D, toluidine blue).", "modalities": ["pathology"]}], "diagnosis": "Hepatitis B virus-associated polyarteritis nodosa", "standardized_diagnosis": [{"original_term": "Hepatitis B virus infection", "corrected_term": null, "code": "KA62.9", "title": "Congenital Hepatitis B virus infection", "chapter": "Certain conditions originating in the perinatal period", "primary": false}, {"original_term": "Polyarteritis nodosa", "corrected_term": null, "code": "4A44.4", "title": "Polyarteritis nodosa", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": true}]}, "year": 2013, "classification": "Infectious and immunologic disorders"}
+{"pmid": "23690413", "patient_info": {"basic_info": "72-year-old white woman with 10-year history of recurrent cystitis. No systemic symptoms. Physical exam showed slight anemia. Urine cultures were positive for Escherichia coli. No hepatosplenomegaly or lymphadenopathy detected by CT and ultrasound. Esophagogastroduodenoscopy and subsequent biopsies were negative for both pathologic lymphoid infiltrate and Helicobacter pylori. Otolaryngologic examination and bone marrow biopsy were negative. Serology for hepatitis C virus and hepatitis B virus was negative. No monoclonal component found in serum protein electrophoresis.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23690413/fig/1.jpg"], "caption": "Cystoscopy of the bladder, anterior wall.", "detailed_caption": "Cystoscopy revealed several nodular lesions in anterior wall of bladder (largest measuring 2.5 cm in diameter) covered by hyperemic mucosa and sparing ureteral meatus", "modalities": []}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/23690413/fig/2.jpg"], "caption": "Histopathological section of the urinary bladder wall, H&E staining, low magnification.", "detailed_caption": "Figure 3 shows a hematoxylin and eosin–stained histopathological section of the urinary bladder wall at low magnification, demonstrating an intense mucosal lymphoid infiltrate that extends throughout the lamina propria while sparing the underlying muscle; frequent lymphoepithelial lesions are evident in the tissue, consistent with the diagnosis of MALT lymphoma.", "modalities": ["pathology"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/23690413/fig/3.jpg"], "caption": "H&E-stained histopathological section of the urinary bladder, high-power magnification.", "detailed_caption": "Figure 4 on page 2 is a high-power photomicrograph of a hematoxylin and eosin (H&E)–stained histopathological section of the urinary bladder, demonstrating the cytological features of the marginal zone lymphoma infiltrate with a spectrum of small to medium-sized and larger monocytoid-like cells exhibiting abundant often clear cytoplasm; the image illustrates the morphological heterogeneity of the lymphoma cells within the lamina propria.", "modalities": ["pathology"]}, {"type": "fig", "id": 5, "subfig": null, "path": ["images/23690413/fig/4.jpg"], "caption": "FISH analysis, MALT1 gene translocation in approximately 16% of nuclei, API2 partner gene identified, t(11;18)(q21;q21), chromosome 3 trisomy in 15% of cells, chromosome 18 trisomy in 4% of cells.", "detailed_caption": "FISH analysis showed MALT1 gene translocation in ~16% of nuclei and identified API2 as partner gene, proving presence of t(11;18)(q21;q21). Chromosome 3 and 18 trisomies detected in 15% and 4% of cells respectively", "modalities": ["genetic"]}], "diagnosis": "Primary urinary bladder MALT (mucosa-associated lymphoid tissue) lymphoma harboring the balanced translocation t(11;18)(q21;q21)", "standardized_diagnosis": [{"original_term": "Primary urinary bladder MALT lymphoma", "corrected_term": null, "code": "2A85.1", "title": "MALT - [mucosa associated lymphoid tissue] lymphoma", "chapter": "Neoplasms", "primary": true}]}, "year": 2013, "classification": "Neoplastic diseases"}
+{"pmid": "23715583", "patient_info": {"basic_info": "30-year-old Hispanic male with history of heavy NSAID use. Presented with melena and severe abdominal pain for 3 weeks, with similar but milder symptoms over prior 4-5 months. Initial hemoglobin 7.8 g/dL and mean corpuscular volume 78 fL. Later endorsed having a right swollen testicle (initially missed on previous exams). Physical exam revealed nontender enlarged right testicle. Laboratory markers showed: human chorionic gonadotropin 50 mIU/mL (normal <10), α-fetoprotein 1,990 ng/mL (normal <8), lactate dehydrogenase 534 IU/L (range 25-175).", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "Subfigs: A,B", "path": ["images/23715583/fig/1.jpg"], "caption": "(A) Esophagogastroduodenoscopy, gastric antrum. (B) Esophagogastroduodenoscopy, second portion of the duodenum.", "detailed_caption": "A: Figure 1A on page 1 is an endoscopic image obtained during esophagogastroduodenoscopy, demonstrating a small ulcer with erosions located in the gastric antrum. B: Figure 1B on page 1 is an endoscopic image from the same procedure, showing a large ulcer with heaped-up edges and an overlying clot localized in the second portion of the duodenum. Both images are upper gastrointestinal endoscopic views acquired during evaluation for GI bleeding, with no specific mention of staining methods or magnification as they are clinical endoscopy photographs.", "modalities": ["endoscopy"]}, {"type": "fig", "id": 1, "subfig": "C", "path": ["images/23715583/fig/2.jpg"], "caption": "Endoscopic examination of the second portion of the duodenum.", "detailed_caption": "Large ulcer with heaped up edges and overlying clot in second portion of duodenum", "modalities": ["endoscopy"]}, {"type": "fig", "id": 2, "subfig": "Subfigs: A,B", "path": ["images/23715583/fig/3.jpg"], "caption": "Biopsy specimen, H&E staining, 100× magnification.", "detailed_caption": "Biopsy revealed malignant germ cell tumor, consistent with embryonal carcinoma (H&E stain, 100x magnification)", "modalities": ["pathology"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/23715583/fig/4.jpg"], "caption": "CT of the abdomen and pelvis.", "detailed_caption": "CT abdomen/pelvis showed invasion of transverse colon and right renal hydronephrosis due to right ureter encasement", "modalities": ["ct"]}], "diagnosis": "Metastatic testicular germ cell tumor (embryonal carcinoma) presenting with GI bleeding", "standardized_diagnosis": [{"original_term": "Testicular germ cell tumor", "corrected_term": null, "code": "2C80.2", "title": "Germ cell tumour of testis", "chapter": "Neoplasms", "primary": true}, {"original_term": "Embryonal carcinoma", "corrected_term": null, "code": "2C80.2", "title": "infantile embryonal carcinoma", "chapter": "Neoplasms", "primary": false}, {"original_term": "Gastrointestinal bleeding", "corrected_term": null, "code": "ME24.9Z", "title": "Gastrointestinal bleeding", "chapter": "Symptoms, signs or clinical findings, not elsewhere classified", "primary": false}, {"original_term": "Metastatic neoplasm", "corrected_term": null, "code": "2E03", "title": "metastatic tumour in bone", "chapter": "Neoplasms", "primary": false}]}, "year": 2013, "classification": "Neoplastic diseases"}
+{"pmid": "23669220", "patient_info": {"basic_info": "A 62-year-old white man with a history of hypertension and diabetes mellitus presented with a three-month history of fatigue, anorexia, weight loss, and vague upper abdominal pain that had intensified over time. He had a 40-pack year smoking history but quit 2 years prior to illness, consumed alcohol in moderation, and denied high-risk sexual behavior. His mother died of smoking-related lung cancer. Physical examination at presentation revealed renal insufficiency with serum creatinine of 3.2 mg/dL, severe anemia with hemoglobin of 7 g/dL, thrombocytopenia with platelets at 77,000/μL, hypercalcemia with calcium of 12.7 g/dL, and elevated total protein greater than 10 g/dL. He also demonstrated biochemical evidence of tumor lysis syndrome with LDH of 1,157 U/L and uric acid of 20.8 mg/dL, and clinically overt coagulopathy consistent with disseminated intravascular clotting including prolonged prothrombin time, activated partial thromboplastin time, reduced fibrinogen with elevated D-dimer and fibrin split products.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23669220/fig/1.jpg"], "caption": "CT of the abdomen.", "detailed_caption": "CT scan demonstrated a 16-cm pancreatic mass, two large (>5 cm) liver masses, a 1.8-cm right adrenal gland nodule, retroperitoneal lymphadenopathy, multiple peritoneal nodules, and moderate volume ascites.", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": "A", "path": ["images/23669220/fig/2.jpg"], "caption": "(A) Bone marrow biopsy, H&E staining, high-power field.", "detailed_caption": "A: Figure 2 (A) on page 2 shows a bone marrow biopsy section stained with hematoxylin and eosin (H&E), displaying a high-power field view with sheets of monotonous plasma cells extensively infiltrating the bone marrow, consistent with massive marrow involvement by neoplastic plasma cells in the context of multiple myeloma.", "modalities": ["pathology"]}, {"type": "fig", "id": 2, "subfig": "D", "path": ["images/23669220/fig/3.jpg"], "caption": "(D) Kidney section, H&E staining, intermediate magnification.", "detailed_caption": "D: Microscopic section of kidney showing severe cast nephropathy with arrows indicating intratubular casts, stained with hematoxylin and eosin (H&E), at intermediate magnification.", "modalities": ["pathology"]}, {"type": "fig", "id": 2, "subfig": "E", "path": ["images/23669220/fig/4.jpg"], "caption": "(E) Ascites fluid cytology, H&E staining, obtained during hospitalization.", "detailed_caption": "E: Microscopic image of ascites fluid cytology analyzed with hematoxylin and eosin (H&E) staining showing clusters of neoplastic plasma cells, consistent with CD138-positive kappa-restricted clonal plasma cells with plasmablastic morphology, obtained during the patient’s hospitalization for paracentesis and analysis of peritoneal fluid.", "modalities": ["pathology"]}, {"type": "fig", "id": 2, "subfig": "F", "path": ["images/23669220/fig/5.jpg"], "caption": "Immunohistochemical staining for CD138 of cytologic material from ascites fluid, high magnification.", "detailed_caption": "F: Immunohistochemical staining for CD138 of cytologic material from ascites fluid at high magnification demonstrates diffuse, strong membranous positivity in clusters of plasma cells.", "modalities": ["pathology"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/23669220/fig/6.jpg"], "caption": "PET scan.", "detailed_caption": "PET scan showed mediastinal and intra-abdominal structural involvement.", "modalities": ["pet/spect/nuclear"]}], "diagnosis": "Highly proliferative, ISS (International Staging System) stage IIIB immunoglobulin A kappa multiple myeloma with hyperdiploid karyotype and multiple chromosomal abnormalities including multiple rearrangements involving chromosome 1, with extensive extramedullary disease", "standardized_diagnosis": [{"original_term": "Multiple myeloma", "corrected_term": null, "code": "2A83.1", "title": "multiple myeloma", "chapter": "Neoplasms", "primary": true}, {"original_term": "Extramedullary disease", "corrected_term": null, "code": "GB82", "title": "medullary cystic disease", "chapter": "Diseases of the genitourinary system", "primary": false}]}, "year": 2013, "classification": "Neoplastic diseases"}
+{"pmid": "23758256", "patient_info": {"basic_info": "A 26-year-old woman with no significant medical history was admitted to the hospital through the emergency department after having several syncopal episodes. Laboratory evaluation revealed positive antinuclear antibodies at a titer of 1:320 with a speckled pattern, and specificity for extractable nuclear antigens including antibodies against Ro52 confirmed by immunoblot and enzyme-linked immunosorbent assays (first measurement of antibodies, 1.2 U per milliliter). No clinical manifestations of rheumatologic disease were present. Other causes of reversible atrioventricular block were ruled out, including cardiac surgery, ablation procedures, drug use, infiltrative diseases, myocardial ischemia, and infectious diseases. Electrolyte levels and thyrotropin levels were normal. During the first 4 days after admission, the patient had varying degrees of atrioventricular block.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23758256/fig/1.jpg"], "caption": "(A) Surface electrocardiography at rest; ladder diagram depicting cardiac conduction routes. (B) Surface electrocardiography (precordial leads V1 and V6) and endocavitary His bundle recordings during electrophysiological study with continuous stimulation in the superior right atrium at a cycle length of 490 msec; bipolar catheter recording from the superior third of the tricuspid annulus.", "detailed_caption": "In Panel A, surface electrocardiography (ECG) conducted while the patient was at rest shows complete atrioventricular block and ventricular escape rhythm associated with left bundle-branch block. Beneath the surface ECG is a ladder diagram showing the proposed routes of cardiac conduction, with cardiac location represented vertically from the atrium to ventricle and time represented horizontally. Atrial depolarization originates in the sinus node (upper row of black dots) and is conducted into the atrioventricular node but is blocked there and does not continue into the ventricles. At the same time, ventricular escape beats originate in the ventricles (lower row of black dots) at a slower rate and are conducted retrograde but likewise are blocked in the atrioventricular node and do not continue into the atria. Panel B shows surface ECG (precordial leads V1 and V6) and endocavitary (His) recordings during an electrophysiological study. Continuous stimulation (S) was performed in the superior right atrium at a cycle length of 490 msec. The resulting electrograms show normal conduction (from the atria [A] through the bundle of His [H] to the ventricles [V]) in the first, third, and fourth stimulated beats, with infra-Hisian atrioventricular block (conduction block below the H) after the second stimulated beat. The third ECG shows the recording of a bipolar catheter located in the superior third of the tricuspid annulus.", "modalities": ["electrophysiology"]}], "diagnosis": "Reversible atrioventricular block associated with anti-Ro antibodies", "standardized_diagnosis": [{"original_term": "Reversible atrioventricular block", "corrected_term": null, "code": "BC63.2Z", "title": "Complete atrioventricular block", "chapter": "Diseases of the circulatory system", "primary": true}, {"original_term": "Anti-Ro antibody positivity", "corrected_term": null, "code": "MA14.14", "title": "Anti-nuclear antibody positive", "chapter": "Symptoms, signs or clinical findings, not elsewhere classified", "primary": false}]}, "year": 2013, "classification": "Infectious and immunologic disorders"}
+{"pmid": "23822780", "patient_info": {"basic_info": "A 28-year-old woman with no clinically significant medical history presented to the emergency department with fatigue and migratory joint pain. She initially developed pain and swelling in her right foot and ankle that limited walking, which persisted for several days then resolved, followed by pain in her knees and hips with swelling and pain in her right elbow. She reported intermittent low-grade fevers but denied recent cough or sore throat. Physical examination revealed temperature of 38.3°C (101.0°F), diffuse joint tenderness on palpation without swelling or erythema with normal range of motion, tachycardia without murmurs, and no chest infiltrate on radiograph. She returned 5 days later with progressive shortness of breath worse when supine, though joint pain had lessened except for continued right knee pain and stiffness. On repeat examination, she had temperature 37.5°C (99.5°F), heart rate 106 bpm, blood pressure 126/63 mmHg, respiratory rate 22/min, oxygen saturation 96% on 3L oxygen, elevated jugular venous pressure at 12 cm water, bilateral lung crackles, tachycardia with holosystolic murmur at apex radiating to axilla, warm left knee without effusion or erythema but with limited range of motion and severe pain with flexion. The patient was born in Brazil and moved to northeastern United States 10 years prior, worked as a preschool teacher, had never been sexually active, denied alcohol or IV drug use, took no medications, had no drug allergies, and had never previously sought medical care. On further questioning, she recalled becoming short of breath easily as a child in Brazil and being unable to play with other children.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23822780/fig/1.jpg"], "caption": "(A) Echocardiogram, parasternal long-axis view, heart. (B) Echocardiogram, apical four-chamber view, heart. (C) Color Doppler echocardiogram, heart. (D) Continuous-wave Doppler flow study, mitral valve.", "detailed_caption": "A parasternal long-axis view of the heart (Panel A) and an apical four-chamber view (Panel B) show normal chamber dimensions and wall thickness, with thickening of the mitral-valve leaflets and restriction of the posterior leaflet. Mitral regurgitation is shown on a color Doppler echocardiogram (Panel C), and the mitral stenosis gradient is shown in a continuous-wave Doppler flow study (Panel D).", "modalities": ["ultrasound"]}], "diagnosis": "Acute rheumatic fever", "standardized_diagnosis": [{"original_term": "Acute rheumatic fever", "corrected_term": null, "code": "1B40.Z", "title": "acute active rheumatic fever", "chapter": "Certain infectious or parasitic diseases", "primary": true}]}, "year": 2013, "classification": "Infectious and immunologic disorders"}
+{"pmid": "23739129", "patient_info": {"basic_info": "5-year-old right-hand dominant boy presented with painful and deformed left forearm after slipping in the snow and landing on his outstretched left hand. No relevant medical history. On examination, he was stable with an isolated deformed arm injury. No signs of neurovascular compromise, no skin compromise or breach.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23739129/fig/1.jpg"], "caption": "(A) Anteroposterior radiograph of the forearm and elbow. (B) Lateral radiograph of the forearm and elbow.", "detailed_caption": "Anteroposterior and lateral radiographs of the forearm and elbow showing minimally displaced proximal third ulna diaphyseal fracture and radial head dislocation", "modalities": ["x-ray"]}], "diagnosis": "Monteggia fracture of the forearm (minimally displaced proximal third ulna diaphyseal fracture and radial head dislocation)", "standardized_diagnosis": [{"original_term": "Monteggia fracture", "corrected_term": null, "code": "NC32.0", "title": "Monteggia fracture-dislocation", "chapter": "Injury, poisoning or certain other consequences of external causes", "primary": true}, {"original_term": "Ulna diaphyseal fracture", "corrected_term": null, "code": "FB84.Y", "title": "Diaphysitis", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": false}, {"original_term": "Radial head dislocation", "corrected_term": null, "code": "NC33.0", "title": "Dislocation of radial head", "chapter": "Injury, poisoning or certain other consequences of external causes", "primary": false}]}, "year": 2013, "classification": "Orthopedic and connective tissue disorders"}
+{"pmid": "23733760", "patient_info": {"basic_info": "76-year-old woman, asymptomatic, with history of rheumatoid arthritis treated with methotrexate for 5.5 years (4 mg/week for 4 years and 8 mg/week for 1.5 years). Presented with lung mass found on chest radiography.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/23733760/fig/1.jpg"], "caption": "CT of the chest, contrast-enhanced.", "detailed_caption": "Contrast-enhanced chest CT revealed lung tumors with angiogram sign in right middle lobe", "modalities": ["ct"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/23733760/fig/2.jpg"], "caption": "Flexible bronchoscopy of right upper lobe orifice.", "detailed_caption": "Flexible bronchoscopy showed ulcerative erosion surrounded by pale mucosa in right upper lobe orifice", "modalities": ["endoscopy"]}, {"type": "fig", "id": 2, "subfig": "A,B", "path": ["images/23733760/fig/3.jpg"], "caption": "Biopsy, H&E staining.", "detailed_caption": "Biopsy with H&E staining showed bronchus epithelium and subcutaneous infiltration of small lymphocytes with necrosis", "modalities": ["pathology"]}, {"type": "fig", "id": 2, "subfig": "C,D,E,F", "path": ["images/23733760/fig/4.jpg"], "caption": "(C) Immunohistochemical staining of lung lesion, CD20 antibody, 40× magnification. (D) Immunohistochemical staining of lung tissue, CD79a antibody, 40× magnification. (E) Immunohistochemical staining of lung lesion, latent membrane protein 1, 100× magnification. (F) In situ hybridization of lung tissue, EBV-encoded small RNA-1, 200× magnification.", "detailed_caption": "C: Immunohistochemical staining of the lung lesion using the CD20 antibody at 40× magnification demonstrates B-cell infiltration. D: Immunohistochemical staining with the CD79a antibody at 40× magnification shows B-cell lineage confirmation in the lung tissue. E: Immunohistochemical staining for latent membrane protein 1 at 100× magnification reveals the presence of latent Epstein-Barr virus infection in the sampled lung lesion. F: In situ hybridization for EBV-encoded small RNA-1 at 200× magnification identifies Epstein-Barr virus–positive cells within the lung tissue.", "modalities": ["pathology"]}], "diagnosis": "Methotrexate-induced lymphoproliferative disease: Epstein-Barr virus-associated lymphomatoid granulomatosis (LYG) grade 2 according to WHO classification", "standardized_diagnosis": [{"original_term": "Methotrexate-induced lymphoproliferative disease", "corrected_term": null, "code": "2B32.Y", "title": "Methotrexate-associated lymphoproliferative disorders", "chapter": "Neoplasms", "primary": false}, {"original_term": "Epstein-Barr virus-associated lymphomatoid granulomatosis", "corrected_term": null, "code": "2A81.3", "title": "Lymphomatoid granulomatosis", "chapter": "Diseases of the skin", "primary": true}]}, "year": 2013, "classification": "Neoplastic diseases"}
+{"pmid": "23797003", "patient_info": {"basic_info": "A 48-year-old man initially presented in 1999 with a mass on his right thumb, which was found to be a 1.5-cm aggressive digital papillary adenocarcinoma. Eleven years later, he presented with substernal chest pain and was found to have widespread metastatic disease. The patient reported difficulty walking due to pain in his left buttock extending into his left thigh, pain in the right hand extending from the area of initial amputation to a new mass at the base of the first finger, and exquisite point tenderness in the anterolateral sole of each foot associated with subcentimeter nodules. These lesions grew rapidly over 2 weeks, and he had decreased appetite with 20-pound weight loss over 3 months. His medical history included recent treatment for pneumonia and non-ST elevation myocardial infarction. He was a former printer with 18 years of chemical exposure and had a 20 pack-year smoking history. Physical examination revealed multiple subcutaneous nodules measuring 1-3 cm along thoracic and abdominal walls, bilateral foot sole lesions, and induration of the left gluteus maximus musculature, all tender to palpation. He had an Eastern Cooperative Oncology Group performance status of 3 and was minimally able to ambulate with crutches.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23797003/fig/1.jpg"], "caption": "Clinical photograph of the palmar aspect of the right hand acquired two weeks after starting treatment.", "detailed_caption": "Figure 1 is a clinical photograph depicting the palmar aspect of the right hand showing a large, erythematous, subcutaneous mass at the base of the first finger and thenar eminence, acquired two weeks after starting treatment for metastatic digital papillary adenocarcinoma. This image documents the anatomical site of recurrence and local progression at the original location of tumor involvement, providing visual evidence of tumor burden following initiation of therapy.", "modalities": ["clinical"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/23797003/fig/2.jpg"], "caption": "Clinical photograph of the right hand, acquired after palliative treatment initiation.", "detailed_caption": "Figure 2, as depicted on page 2, is a clinical photograph showing the dorsum of the patient's right hand, illustrating multiple subcutaneous nodules associated with metastatic digital papillary adenocarcinoma; the image documents the anatomical site (right hand), demonstrates the gross morphology of subcutaneous metastatic lesions, and appears to have been acquired during the course of symptomatic disease progression, specifically after palliative treatment initiation.", "modalities": ["clinical"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/23797003/fig/3.jpg"], "caption": "CT of the left gluteus maximus musculature.", "detailed_caption": "CT imaging shows induration and enhancement of left gluteus maximus musculature (indicated by arrow)", "modalities": ["ct"]}], "diagnosis": "Diffusely metastatic digital papillary adenocarcinoma, 11 years after initial presentation", "standardized_diagnosis": [{"original_term": "Digital papillary adenocarcinoma", "corrected_term": null, "code": "2C33", "title": "Aggressive digital papillary adenocarcinoma", "chapter": "Neoplasms", "primary": true}, {"original_term": "Metastatic adenocarcinoma", "corrected_term": null, "code": "2D85", "title": "Metastatic adenocarcinoma in colon", "chapter": "Diseases of the digestive system", "primary": false}]}, "year": 2013, "classification": "Neoplastic diseases"}
+{"pmid": "23752113", "patient_info": {"basic_info": "59-year-old man with history of prostate cancer metastatic to lumbar spine and periaortic lymph nodes diagnosed in 2001, with initial PSA of 11.3 ng/mL. In August 2011, presented to emergency room with abdominal pain. Lab tests showed elevated lipase (874 U/L), alkaline phosphatase (289 IU/L), and ALT (222 IU/L), with normal bilirubin. Later returned with right upper quadrant abdominal pain, tachycardia but afebrile. Physical exam showed positive Murphy's sign and palpable gallbladder. Labs showed elevated alkaline phosphatase of 357 IU/L and normal serum lipase.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23752113/fig/1.jpg"], "caption": "MRI of the abdomen, coronal view, performed after the onset of jaundice.", "detailed_caption": "Figure 1 on page 1 is a magnetic resonance imaging (MRI) scan of the abdomen performed after the patient developed jaundice, showing an infiltrating soft tissue process in the porta hepatis with intrahepatic bile duct dilation; the scan is presented in a coronal view, and the imaging was obtained after the onset of obstructive symptoms during the disease course.", "modalities": ["mri"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/23752113/fig/2.jpg"], "caption": "Endoscopic ultrasound of the hilar region, liver, portal and peripancreatic lymph nodes, and tail of pancreas, lesion size 20 × 28 mm.", "detailed_caption": "Endoscopic ultrasound showed cystic hypoechoic process in hilar region contiguous to liver, multiple portal and peripancreatic lymph nodes, and a 20 x 28-mm hypoechoic lesion with heterogenicity in tail of pancreas.", "modalities": ["ultrasound", "endoscopy"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/23752113/fig/3.jpg"], "caption": "Fine needle aspiration biopsy of pancreatic mass, immunostaining for PSA, prostate-specific acid phosphatase, and androgen receptor.", "detailed_caption": "Fine needle aspiration biopsy of pancreatic mass revealed adenocarcinoma that matched patient's previous metastases morphologically. Immunostaining was positive for PSA, prostate-specific acid phosphatase, and androgen receptor.", "modalities": ["pathology"]}], "diagnosis": "Metastatic prostatic adenocarcinoma to the pancreas", "standardized_diagnosis": [{"original_term": "Prostatic adenocarcinoma", "corrected_term": null, "code": "2C82.0", "title": "Adenocarcinoma of prostate", "chapter": "Neoplasms", "primary": true}, {"original_term": "Metastasis to pancreas", "corrected_term": null, "code": "2D81", "title": "pancreas metastasis", "chapter": "Diseases of the digestive system", "primary": false}]}, "year": 2013, "classification": "Neoplastic diseases"}
+{"pmid": "23752114", "patient_info": {"basic_info": "Patient 1 was a 46-year-old man with a history of stage III melanoma who developed symptomatic pulmonary and osseous metastatic disease. Tumor mutation testing identified a BRAF V600E mutation. Prior to treatment, his lactate dehydrogenase was elevated at 3,190 IU/L. After beginning vemurafenib treatment and experiencing initial improvement, he presented after 6 weeks with acute onset dyspnea and fever. Physical examination revealed diffuse concave 1 mm ST segment elevations on electrocardiogram. Transthoracic echocardiogram revealed a small pericardial effusion initially. Following recurrent symptoms, physical exam revealed hypotension, a 12 mmHg pulsus paradoxus, and jugular venous distension. Two liters of serosanguinous pericardial fluid was drained via pericardiocentesis, with cytology negative for melanoma.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/23752114/fig/1.jpg"], "caption": "Transthoracic echocardiogram of the heart.", "detailed_caption": "Transthoracic echocardiogram demonstrates a large circumferential pericardial effusion with cardiac tamponade (effusion bounded by arrowheads)", "modalities": ["ultrasound"]}], "diagnosis": "Vemurafenib-induced cardiac tamponade secondary to pericarditis with pericardial effusion", "standardized_diagnosis": [{"original_term": "Cardiac tamponade", "corrected_term": null, "code": "BB23", "title": "Cardiac tamponade", "chapter": "Diseases of the circulatory system", "primary": true}, {"original_term": "Pericarditis", "corrected_term": null, "code": "BB2Z", "title": "Pericarditis, unspecified", "chapter": "Diseases of the circulatory system", "primary": false}, {"original_term": "Pericardial effusion", "corrected_term": null, "code": "BB25", "title": "Pericardial effusion", "chapter": "Diseases of the circulatory system", "primary": false}]}, "year": 2013, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "23752111", "patient_info": {"basic_info": "A 65-year-old man with a history of immunoglobulin G (IgG) lambda monoclonal gammopathy of undetermined significance that developed into multiple myeloma in July 2003, initially diagnosed during emergency decompressive surgery for symptomatic epiduritis of the fifth cervical vertebra. In October 2010, after the eleventh chemotherapy session, the patient presented with a rapidly enlarging anterior cervical mass accompanied by dysphonia and dysphagia. Physical examination revealed a firm tumefaction in the anterior cervical region. The patient's general condition began to deteriorate in November 2010 with onset of respiratory distress related to superior vena cava syndrome resulting from tumoral compression.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23752111/fig/1.jpg"], "caption": "Ultrasonography of the thyroid isthmus and left lobe, nodule measuring 75 × 60 × 35 mm.", "detailed_caption": "Ultrasonography showed a large nodule in the isthmus and left lobe of the thyroid measuring 75 × 60 × 35 mm, with unusual and dishomogeneous echogenicity, featuring a multilobed hyperechoic central component surrounded by a hypoechoic area. No lymph node abnormalities were found in the lateral neck compartments.", "modalities": ["ultrasound"]}, {"type": "fig", "id": 2, "subfig": "A", "path": ["images/23752111/fig/2.jpg"], "caption": "Shear wave elastography analysis, maximal pressure=89.77 kPa.", "detailed_caption": "Shear wave elastography analysis demonstrated a high elastography index with maximal pressure of 89.77 kPa, indicating malignancy.", "modalities": ["ultrasound"]}, {"type": "fig", "id": 2, "subfig": "B", "path": ["images/23752111/fig/3.jpg"], "caption": "Doppler ultrasonography of the thyroid, transverse section, performed after rapid enlargement of anterior cervical mass during diagnostic assessment following chemotherapy.", "detailed_caption": "B: Doppler ultrasonography of the thyroid performed after the rapid enlargement of the anterior cervical mass demonstrates a large nodule in the isthmus and left lobe, showing marked internal and peripheral vascularization; the image corresponds to a transverse section acquired during the diagnostic assessment following chemotherapy, with color Doppler highlighting increased blood flow in and around the nodule.", "modalities": ["ultrasound"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/23752111/fig/4.jpg"], "caption": "Fine-needle aspiration. Immunocytochemical study.", "detailed_caption": "Fine-needle aspiration displayed dispersed plasmacytoid cells of malignant appearance, some binucleated, with eccentric nuclei, prominent nucleoli, and chromatin enhancement. Cell morphology suggested either medullary carcinoma, myelomatous localization, or lymphoid origin. Immunocytochemical study failed to define precise cell origin, but absence of calcitonin expression ruled out medullary carcinoma, favoring plasma cell neoplasm hypothesis.", "modalities": ["pathology"]}], "diagnosis": "Thyroid involvement by multiple myeloma", "standardized_diagnosis": [{"original_term": "Multiple myeloma", "corrected_term": null, "code": "2A83.1", "title": "multiple myeloma", "chapter": "Neoplasms", "primary": true}, {"original_term": "Thyroid involvement by multiple myeloma", "corrected_term": null, "code": "2A83.1", "title": "multiple myeloma", "chapter": "Neoplasms", "primary": false}]}, "year": 2013, "classification": "Neoplastic diseases"}
+{"pmid": "23798615", "patient_info": {"basic_info": "A 57-year-old woman with a history of metastatic (pulmonary, bone) left renal cell carcinoma was referred to nephrology for acute renal failure. Her cancer was previously treated with nephrectomy in March 2005, followed by interferon, and sunitinib until 2011 when she developed progressive disease. She was started on everolimus, with the dose later reduced due to rising creatinine levels. On physical examination, her blood pressure was 140/85 mmHg, she weighed 45 kg (having lost 5 kg), and the remainder of her examination was normal. Laboratory studies showed hemoglobin of 9.1 g/dl, platelet count of 390,000/mm³, and haptoglobin of 4.39 g/l. Urinalysis revealed daily protein excretion of 0.4 g and 18 red cells per high-power field. Imaging showed the right kidney was normal on non-contrast computed tomography scan and renal sonography. Immunological workup was negative, including circulating immune complexes, antinuclear antibody, rheumatoid arthritis hemagglutinin titer, anti-tubular basement membrane antibody, and anti-neutrophil cytoplasmic antibody. No monoclonal component was detected in the blood.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/23798615/tab/1.jpg"], "caption": "Table 1. Summary of clinical and laboratory parameters for biopsy-proven acute tubular necrosis cases associated with mTOR inhibitor therapy.", "detailed_caption": "Table 1 in this article presents a summary of biopsy-proven acute tubular necrosis cases associated with mTOR inhibitor therapy, detailing for each patient the case number, age, sex, cancer type, concomitant nephrotoxic factors, specific mTOR inhibitor and dosage, duration of therapy before renal disturbance, baseline and peak serum creatinine levels during treatment, and outcome after drug withdrawal. This table allows direct comparison of clinical and laboratory parameters, timelines of renal injury development, and subsequent renal recovery or progression based on the type of mTOR inhibitor used and patient comorbidities.", "modalities": ["clinical", "lab", "pathology"]}, {"type": "fig", "id": 1, "subfig": "A", "path": ["images/23798615/fig/2.jpg"], "caption": "Kidney biopsy. Immunofluorescence study of the kidney.", "detailed_caption": "Kidney biopsy showed severe tubular necrosis with denudation of tubular basement membranes, cell fragments and red cells in the tubular lumen, and cellular dysmorphy. In the interstitium, mild edema was observed within non-cellular fibrosis. Most of the glomeruli are ischemic. Immunofluorescence study did not show specific deposits.", "modalities": ["pathology"]}], "diagnosis": "Acute tubular necrosis (ATN) associated with mTOR inhibitor therapy", "standardized_diagnosis": [{"original_term": "Acute tubular necrosis", "corrected_term": null, "code": "GB52", "title": "Acute tubular necrosis", "chapter": "Diseases of the genitourinary system", "primary": true}, {"original_term": "Adverse effect of mTOR inhibitor", "corrected_term": null, "code": "NF09", "title": "adverse effects, unspecified", "chapter": "Injury, poisoning or certain other consequences of external causes", "primary": false}]}, "year": 2013, "classification": "Endocrine and metabolic disorders"}
+{"pmid": "23715566", "patient_info": {"basic_info": "28-year-old man initially presented in 2007 with headache and central ataxia with gait instability. No dysarthria, dysphagia, facial asymmetry, or other focal neurological deficits were present. In February 2010, he presented with increasing cervical lymphadenopathy associated with his posterior occipital surgical scar over several months.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23715566/fig/1.jpg"], "caption": "Diff-Quik–stained smear of right neck mass aspirate, 20× magnification.", "detailed_caption": "Diff-Quik–stained smear of right neck mass aspirate showing sheets of small round blue cell tumor (20x magnification)", "modalities": ["pathology"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/23715566/fig/2.jpg"], "caption": "H&E staining of right neck mass, 20× magnification.", "detailed_caption": "H&E stain of right neck mass showing small round blue cell tumor cells infiltrating skeletal muscle (20x magnification)", "modalities": ["pathology"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/23715566/fig/3.jpg"], "caption": "Immunoperoxidase staining of the right neck mass, 20× magnification.", "detailed_caption": "Immunoperoxidase stain positive for antibodies against neuron-specific enolase within tumor cells (20x magnification)", "modalities": ["pathology"]}, {"type": "fig", "id": 4, "subfig": "A", "path": ["images/23715566/fig/4.jpg"], "caption": "(A) [18F]FDG PET/CT, axial view, obtained prior to induction chemotherapy.", "detailed_caption": "A: Figure 4 (A) on page 2 presents a [18F]fluorodeoxyglucose (FDG) PET/CT image in the axial view, obtained prior to induction chemotherapy, demonstrating prominent extracranial metastatic disease as indicated by the arrow, specifically localizing FDG-avid metastasis at the right occipital region.", "modalities": ["pet/spect/nuclear", "ct"]}, {"type": "fig", "id": 5, "subfig": "A", "path": ["images/23715566/fig/5.jpg"], "caption": "(A) MRI of the brain, sagittal view, T1-weighted sequence, obtained before induction chemotherapy.", "detailed_caption": "A: Figure 5 (A), located on page 3, presents a sagittal T1-weighted MRI of the brain obtained before induction chemotherapy, displaying an extracranial metastatic lesion indicated by an arrow adjacent to the posterior fossa region; this image was acquired prior to systemic therapy and serves to demonstrate the anatomical extent and location of the metastatic disease before treatment initiation.", "modalities": ["mri"]}], "diagnosis": "Recurrent extraneural metastatic medulloblastoma", "standardized_diagnosis": [{"original_term": "Medulloblastoma", "corrected_term": null, "code": "2A00.10", "title": "medulloblastoma of unspecified site", "chapter": "Neoplasms", "primary": true}, {"original_term": "Extraneural metastasis", "corrected_term": null, "code": "2E2Z", "title": "metastasis", "chapter": "Neoplasms", "primary": false}]}, "year": 2013, "classification": "Neoplastic diseases"}
+{"pmid": "23782198", "patient_info": {"basic_info": "This case involves a 48-year-old man with a body mass index of 44.7 and weight of 153 kg who was admitted to the hospital 71 minutes after experiencing a right hemispheric stroke. His medical history included long-standing hypertension, hypertrophic cardiomyopathy, congestive heart failure, and paroxysmal atrial fibrillation. He was also a smoker. The patient had switched from phenprocoumon to dabigatran (150 mg twice daily) 4 weeks before presentation and reported good medication compliance, with the last dose received 9 hours before stroke onset. His creatinine clearance was 163 ml per minute (reference range 76 to 120). He was also receiving a proton-pump inhibitor. Initial plasma dabigatran level measured using Hemoclot test system was 0 ng per milliliter.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/23782198/fig/1.jpg"], "caption": "CT scan performed on admission, noncontrast.", "detailed_caption": "Noncontrast CT scan obtained on admission shows no early ischemic changes", "modalities": ["ct"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/23782198/fig/2.jpg"], "caption": "CT scan of the brain performed 24 hours after initial examination.", "detailed_caption": "Follow-up CT scan after 24 hours shows an embolic ischemic infarction in the territory of the right middle cerebral artery", "modalities": ["ct"]}, {"type": "fig", "id": 1, "subfig": "C", "path": ["images/23782198/fig/3.jpg"], "caption": "Laboratory measurement of plasma dabigatran levels on day 4, maximum 50 ng/mL, trough 0 ng/mL, peak at 4 hours after administration.", "detailed_caption": "Measurements of diurnal plasma levels of dabigatran on day 4 show a maximum plasma level of 50 ng per milliliter and a trough level of 0 ng per milliliter, with peak level reached 4 hours after drug administration", "modalities": ["lab"]}], "diagnosis": "Right hemispheric ischemic stroke with embolic infarction in the territory of the right middle cerebral artery", "standardized_diagnosis": [{"original_term": "Right hemispheric ischemic stroke", "corrected_term": null, "code": "8B11.5Z&XK9K", "title": "ischaemic stroke NOS[Right]", "chapter": "Diseases of the nervous system", "primary": true}, {"original_term": "Embolic infarction of middle cerebral artery", "corrected_term": null, "code": "8B26.2/8B11.2Z", "title": "Middle cerebral artery syndrome[cerebral infarction due to embolic occlusion]", "chapter": "Diseases of the nervous system", "primary": false}]}, "year": 2013, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "23800936", "patient_info": {"basic_info": "A 26-year-old woman presented with 5 weeks of vulvar swelling, pruritus, and progressively enlarging vulvar plaque, accompanied by 2 months of occasional constipation and recurrent bloody, mucoid diarrhea. She had no history of anogenital warts and was monogamous with her husband, with no history of blood transfusions or contact with toxic agents or irritants. Physical examination revealed bilateral purple swelling of the labium majora and a 2-mm ulcer was observed inside the right labium minus. Digital rectal examination showed bloody mucus mixed with loose stool. Laboratory results showed normal white blood cell count (4 × 10⁹/L) and neutrophil count (2.07 × 10⁹/L), slightly decreased hemoglobin level (10.2 g/dL), elevated erythrocyte sedimentation rate (71 mm/h; reference range 0-20 mm/h), and elevated C-reactive protein level (28 mg/L; reference range 0-5 mg/L). Bacterial and fungal swab cultures from the ulceration were negative, and vaginal and urethral swabs were negative with moderately increased polymorphonuclear leukocytes. Serologic testing for Treponema pallidum and human immunodeficiency virus were negative.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23800936/fig/1.jpg"], "caption": "Clinical photograph of the vulva and perineal region, obtained during the physical examination on admission.", "detailed_caption": "Figure 1 is a clinical photograph depicting bilateral purple swelling of the labium majora and multiple moist, edematous, wart-like nodules ranging from 1 to 8 mm on the perineal and perianal regions of the patient's vulva, observed during the physical examination upon admission. The image documents the gross anatomical appearance of these lesions, without specification of a particular orientation or magnification, and serves to illustrate the extent and nature of vulvar and perianal involvement in this case of suspected vulvar Crohn disease.", "modalities": ["clinical"]}, {"type": "fig", "id": 2, "subfig": "", "path": ["images/23800936/fig/2.jpg"], "caption": "(A) Vulvar nodule histopathology, H&E staining, 20× magnification. (B) Vulvar nodule histopathology, H&E staining, 400× magnification.", "detailed_caption": "Histopathology of the vulvar nodule. A, Noncaseating epithelioid granulomas in the dermis (hematoxylin-eosin, original magnification 20). B, The granulomas were composed of\nmultinucleated giant cells and a cellular infiltrate of lymphocytes and plasma cells (hematoxylin-eosin, original magnification 400).", "modalities": ["pathology"]}], "diagnosis": "Vulvar Crohn disease", "standardized_diagnosis": [{"original_term": "Vulvar Crohn disease", "corrected_term": null, "code": "DD70.Z", "title": "Crohn disease", "chapter": "Diseases of the digestive system", "primary": true}]}, "year": 2013, "classification": "Gastrointestinal disorders"}
+{"pmid": "23882291", "patient_info": {"basic_info": "A 60-year-old female presented to the cardiology department with stable angina pectoris that she had experienced for one year. She had been diagnosed with portal vein thrombosis due to protein C deficiency, hypertension and hyperlipidemia. She was taking perindopril and warfarin at the time of presentation. An electrocardiography (ECG) showed Q waves in the inferior leads. Cardiac catheterization revealed spiral dissection of the proximal right coronary artery (RCA), extending downwards to just below the right ventricle branch, with distal TIMI-3 antegrade flow. Ventriculography showed hypokinesis of the inferior wall, and the left ventricle ejection fraction (LVEF) was 45%.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23882291/fig/1.jpg"], "caption": "Right coronary angiogram, left anterior oblique projection.", "detailed_caption": "Right coronary angiogram demonstrating spontaneous dissection in left anterior oblique projection", "modalities": ["angiography"]}], "diagnosis": "Spontaneous coronary artery dissection (SCAD)", "standardized_diagnosis": [{"original_term": "Spontaneous coronary artery dissection", "corrected_term": null, "code": "BA82", "title": "spontaneous coronary artery dissection", "chapter": "Diseases of the circulatory system", "primary": true}]}, "year": 2013, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "23911380", "patient_info": {"basic_info": "46-year-old woman who experienced chest pain before having an out-of-hospital cardiac arrest. Pre-arrest rhythm strip showed sinus tachycardia. Initial troponin I was 5.9 μg/L (normal: 0-0.04 μg/L). Medical history included similar chest pain episode one year prior after taking sumatriptan for migraine, with transient inferior and lateral ST elevation on ECG but negative troponin at that time. Previous coronary angiography showed normal left coronary system and dominant right coronary artery with minor ostial spasm and slow flow. Negative bubble study for right to left shunting. Current medications: oral diltiazem, nicorandil, lansoprazole, and beclometasone inhaler. Patient was a former smoker.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23911380/fig/1.jpg"], "caption": "ECG performed immediately prior to onset of pulseless electrical activity arrest.", "detailed_caption": "ECG immediately prior to onset of pulseless electrical activity arrest showing ST elevation", "modalities": ["electrophysiology"]}], "diagnosis": "Severe vasospastic angina", "standardized_diagnosis": [{"original_term": "Vasospastic angina", "corrected_term": null, "code": "BA85.Y/BA40.Z", "title": "Coronary vasospastic disease with angina", "chapter": "Diseases of the circulatory system", "primary": true}]}, "year": 2013, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "23862004", "patient_info": {"basic_info": "A 31-year-old man presented with chronic abdominal pain persisting for approximately one year. He was 170 centimeters tall, weighed 53 kilograms, and worked as a car mechanic. He had no specific medical history or trauma history, and no history of sports activities. The pain initially started after taking a late-night snack and was described as severe squeezing in nature, located on the right side of the periumbilical area, persisting all day long. The pain intensity on visual analogue scale (VAS) was about 60-70 out of 100. He had been on gastrointestinal medications with nonsteroidal anti-inflammatory drugs at another hospital for over two months with no effect. Extensive evaluations including abdominal ultrasonography, abdominal computed tomography, contrast media study of small and large intestine, endoscopy, colonoscopy, laboratory tests, and simple x-rays of chest, abdomen, and lumbar spine showed no specific abnormal findings. Physical examination revealed that he had greater tenderness with continuous local palpation when asked to fold his arms across the upper chest and sit halfway up, indicating a positive Carnett test, which implies that the pain originated from the abdominal wall.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23862004/fig/1.jpg"], "caption": "Clinical photograph of ultrasound transducer and needle placement over the lateral end of the rectus abdominis muscle using a 12–5 Hz linear ultrasound probe.", "detailed_caption": "Figure 1 depicts a clinical photograph showing the placement of the ultrasound transducer and needle over the lateral end of the rectus abdominis muscle in a patient positioned supine for an ultrasound-guided nerve block procedure; the image illustrates the use of a 12-5 Hz linear ultrasound probe configured to localize the target area for injection at the lateral border of the rectus abdominis for abdominal cutaneous nerve entrapment treatment.", "modalities": ["clinical", "ultrasound"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/23862004/fig/2.jpg"], "caption": "Ultrasound, transverse scan of rectus abdominis muscle, abdominal region.", "detailed_caption": "Demonstrates ultrasound guided block of the abdominal cutaneous nerve using transverse scan of rectus abdominis muscle, showing anatomical structures including rectus abdominis (1), linea semilunaris (2), internal oblique (3), transversus abdominis (4), and abdominal cutaneous nerve (*), with white arrows marking the needle trajectory.", "modalities": ["ultrasound"]}], "diagnosis": "Abdominal cutaneous nerve entrapment syndrome", "standardized_diagnosis": [{"original_term": "Abdominal cutaneous nerve entrapment syndrome", "corrected_term": null, "code": "8C1Z", "title": "entrapment syndrome NOS", "chapter": "Diseases of the nervous system", "primary": true}]}, "year": 2013, "classification": "Neurological disorders"}
+{"pmid": "23870399", "patient_info": {"basic_info": "A 23-year-old female presented to the hospital in April 2009 with months of increasing facial and truncal hair growth and acne. She had been amenorrheic for 2 years prior to the onset of her virilizing symptoms. Physical examination revealed a 56 kg normotensive female with obvious facial hair, breast atrophy, excessive hair on her lower abdomen and thighs, and an enlarged clitoris. Pelvic examination revealed a 5 cm right adnexal mass. The patient had been treated as having Polycystic Ovary Syndrome (PCOS) at a local hospital for one year, but symptoms worsened. Abdominal ultrasound identified a 64×52×51 mm solid left ovarian mass with Doppler evaluation showing low resistance to intratumoral blood flow. CT scan of the pelvis confirmed the ultrasound findings and detected no adrenal gland enlargement or tumor. No ascites or other abnormalities were present. The preoperative diagnosis was testosterone-producing sex-cord stromal cell tumor.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/23870399/tab/1.jpg"], "caption": "Laboratory results before surgery.", "detailed_caption": "Laboratory values showed FSH 6.2 U/L, LH 4.5 U/L, E2 57 pg/ml, PRL 21.84 ng/ml, testosterone 3.68 ng/ml, DHEA-S 403.1 μg/dl, SHBG 21.16 nmol/L, and cortisol 22.59 μg/dl before surgery", "modalities": ["lab"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/23870399/fig/2.jpg"], "caption": "Microscopic section of ovarian tissue, H&E staining, 20× magnification.", "detailed_caption": "B: Microscopic appearance of a benign ovarian steroid cell tumor, not otherwise specified, demonstrating cells with small round nuclei, mild atypia, and no mitosis, arranged in a diffuse pattern of columns or nests separated by a rich vascular network; the cells display abundant pale cytoplasm and absence of Reinke crystals, visualized by hematoxylin and eosin staining at 20× magnification (as shown in the figure and its caption on page 3).", "modalities": ["pathology"]}], "diagnosis": "Benign ovarian steroid cell tumor, not otherwise specified (NOS)", "standardized_diagnosis": [{"original_term": "Benign ovarian steroid cell tumor", "corrected_term": null, "code": "2F32.Z", "title": "Benign neoplasm of ovary", "chapter": "Diseases of the genitourinary system", "primary": true}]}, "year": 2013, "classification": "Endocrine and metabolic disorders"}
+{"pmid": "23800107", "patient_info": {"basic_info": "A 13-year-old Caucasian boy of Italian ancestry presented with Addison's disease, dysphagia, muscle weakness, excessive fatigue, and recent onset gait ataxia. His parents were apparently healthy individuals from the same small village in southern Italy, with no recognized consanguinity. He was born after an uneventful 40-week gestation with normal birth parameters and had bilateral cryptorchidism, inguinal hernia, and hypospadias noted at birth. Early developmental milestones appeared normal initially, but global developmental delay became evident later, with mild mental retardation confirmed at age 9. He had a history of deficient tear production dating back to early infancy, with his mother noting he had always 'cried without tears.' At age 2, he developed recurrent vomiting, failure to thrive, and progressive skin pigmentation, initially misdiagnosed as gastroesophageal reflux. At age 4, he presented with recurrent episodes of hypotonia, hypoglycemia, and hypothermia, leading to diagnosis of Addison's disease. Physical examination revealed height 160 cm (0.42 SDS), weight 71 kg (3.55 SDS), pubertal stage II, severe hyperpigmentation and hyperkeratosis of elbows and knuckles, facial dysmorphism with malar hypoplasia and prognathism, dysarthria, nasal speech, saccadic eye movements with horizontal gaze nystagmus, bilaterally dilated pupils with poor light response, mild bilateral optic atrophy, distal muscle weakness and wasting in arms, milder pyramidal weakness in legs, unsteady gait, hyperactive deep tendon reflexes, and extensor plantar responses bilaterally. Laboratory studies showed markedly elevated plasma ACTH levels (1494 pg/ml; normal 5-46), normal serum electrolytes, aldosterone (184 pg/ml; normal 75-455), and plasma renin (16 pg/ml; normal 5-90), confirming isolated glucocorticoid deficiency. Very long chain fatty acids were normal. Bone mineral density was normal (Z score -0.6). Severe progressive dysphagia starting at age 11 prevented normal swallowing without liquids.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23800107/fig/1.jpg"], "caption": "Genetic analysis, family pedigree. I:3, thoracic syringomyelia with spastic diplegia at the age of 60 years, II:4, heterozygous adrenoleukodystrophy, spastic paraparesis, III:3, childhood cerebral adrenoleukodystrophy, III:1, the current patient", "detailed_caption": "Family pedigree showing the proband (III:1), with family history significant for thoracic syringomyelia with spastic diplegia in a great-aunt (I:3) at age 60, and X-linked adrenoleukodystrophy in a maternal cousin (III:3).", "modalities": ["genetic"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/23800107/fig/2.jpg"], "caption": "(A) Cervical spine MRI, axial view, T2-weighted sequence. (B) Spine MRI, sagittal view, T2-weighted sequence.", "detailed_caption": "A: axial T2-weighed MRI of the cervical spine showing syrinx formation at the level of 6th cervical vertebra (arrow). B: sagittal T2-weghed MRI of the spine demonstrating type 1 Chiari malformation and associated cervico-dorsal (C6-T1) syringomyelia.", "modalities": ["mri"]}], "diagnosis": "Triple A (Allgrove) syndrome with type 1 Chiari malformation and syringomyelia", "standardized_diagnosis": [{"original_term": "Triple A syndrome", "corrected_term": null, "code": "5A74.Y", "title": "Triple A syndrome", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": true}, {"original_term": "Type 1 Chiari malformation", "corrected_term": null, "code": "LA07.4", "title": "Chiari malformation type I", "chapter": "Developmental anomalies", "primary": false}, {"original_term": "Syringomyelia", "corrected_term": null, "code": "8D66.Z", "title": "Syringomyelia", "chapter": "Diseases of the nervous system", "primary": false}]}, "year": 2013, "classification": "Neurological disorders"}
+{"pmid": "23870815", "patient_info": {"basic_info": "32-year-old male with history of recurrent sinusitis, bronchitis, and tonsillitis since age 12. Patient presented with diarrhea lasting more than 2 weeks. Had been diagnosed with common variable immunodeficiency (CVID) 6 years prior.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23870815/fig/1.jpg"], "caption": "(A–D) Gastrointestinal transit radiographs of the small bowel following oral contrast administration.", "detailed_caption": "The figure on page 1 presents four gastrointestinal transit radiographs, demonstrating multiple repletion defects consistent with nodular lymphoid hyperplasia in the terminal ileum. These images utilize gastrointestinal transit imaging of the small bowel and were acquired following oral contrast administration as part of the diagnostic evaluation in a patient with common variable immunodeficiency and recent-onset diarrhoea. The findings highlight accelerated transit and several well-defined nodular filling defects, without further specification of view orientation or acquisition timing beyond the context of the clinical presentation.", "modalities": ["x-ray"]}], "diagnosis": "Nodular lymphoid hyperplasia in common variable immunodeficiency (CVID)", "standardized_diagnosis": [{"original_term": "Common variable immunodeficiency", "corrected_term": null, "code": "4A01.0Y", "title": "Common variable immunodeficiency", "chapter": "Diseases of the immune system", "primary": true}, {"original_term": "Nodular lymphoid hyperplasia", "corrected_term": null, "code": "MA01.Z", "title": "lymphoid hyperplasia", "chapter": "Symptoms, signs or clinical findings, not elsewhere classified", "primary": false}]}, "year": 2014, "classification": "Infectious and immunologic disorders"}
+{"pmid": "23797001", "patient_info": {"basic_info": "A 56-year-old man presented with chronic low back and intermittent hip pain with worsening symptoms. He reported no constitutional symptoms on presentation. Physical examination revealed tenderness on percussion of the lower dorsal and lumbar spine. Complete blood count showed hemoglobin 143 g/L, white blood cell count 6.5 × 10⁹/L with normal differential, and platelets 112 × 10⁹/L. Serum lactate dehydrogenase, calcium, PO4, albumin, uric acid, β₂-microglobulin, and paraprotein levels were all normal. Plain radiographs of the dorsal/lumbar spine, pelvis, and femora showed only mild wedge compression of the D9 vertebral body. Blood film and initial bone marrow aspirate with flow cytometric immunophenotyping were interpreted as essentially normal, with retrospective review confirming absence of hairy cells on blood film and only rare cells suggestive of hairy cell leukemia in the bone marrow aspirate and touch imprints. Abdominal ultrasound revealed hepatic steatosis but no splenomegaly.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/23797001/fig/1.jpg"], "caption": "Bone marrow biopsy, H&E staining.", "detailed_caption": "Hematoxylin and eosin slides of bone marrow biopsy appeared free of disease.", "modalities": ["pathology"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/23797001/fig/2.jpg"], "caption": "CD20 immunohistochemistry of bone marrow biopsy, low to intermediate power field.", "detailed_caption": "B: CD20 immunohistochemistry of a bone marrow biopsy showing a sparse interstitial infiltrate suggestive of hairy cell leukemia, performed on bone marrow tissue, with immunohistochemical staining for CD20 on a low to intermediate power field; the timing of sample acquisition is not explicitly stated in the figure but corresponds to the patient’s diagnostic evaluation.", "modalities": ["pathology"]}, {"type": "fig", "id": 1, "subfig": "C", "path": ["images/23797001/fig/3.jpg"], "caption": "H&E staining of open biopsy of left iliac crest. Immunohistochemistry for CD20, CD10, BCL2, cyclin D1, CD3, CD5, CD138. Flow cytometry for CD19, CD20, CD10, CD11c, CD25, CD103. Enzyme cytochemistry for tartrate-resistant acid phosphatase. Special staining for reticulin fibrosis. PCR for immunoglobulin heavy chain gene rearrangement. FISH for t(11;14) and t(14;18). Annexin A1 immunocytochemistry.", "detailed_caption": "Hematoxylin and eosin staining of open biopsy of left iliac crest revealed diffuse infiltrate of lymphocytes with cleaved nuclei and abundant cytoplasm, with immunohistochemistry positive for CD20, CD10, BCL2, and cyclin D1, and negative for CD3, CD5, and CD138. Flow cytometry revealed coexpression of CD19, CD20, CD10, CD11c, CD25, and CD103. Enzyme cytochemistry confirmed tartrate-resistant acid phosphatase positivity, special stains confirmed reticulin fibrosis, and polymerase chain reaction confirmed clonal immunoglobulin heavy chain gene rearrangement. Fluorescent in situ hybridization was negative for translocations t(11;14) and t(14;18). Annexin A1 immunocytochemistry was positive.", "modalities": ["pathology", "genetic", "lab"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/23797001/fig/4.jpg"], "caption": "Genetic analysis of BRAF gene by shifted termination assay and capillary electrophoresis.", "detailed_caption": "BRAF gene analysis by shifted termination assay and capillary electrophoresis determined the V600E (GTG > GAG) mutation to be present in biopsy samples, with right peak showing wild type and left peak showing mutated BRAF.", "modalities": ["genetic", "electrophysiology"]}], "diagnosis": "Hairy cell leukemia", "standardized_diagnosis": [{"original_term": "Hairy cell leukemia", "corrected_term": null, "code": "2A82.2", "title": "Hairy-cell leukaemia", "chapter": "Neoplasms", "primary": true}]}, "year": 2013, "classification": "Infectious and immunologic disorders"}
+{"pmid": "24026603", "patient_info": {"basic_info": "85-year-old man with stage IV lung adenocarcinoma who developed skin manifestations. Initially presented with erythematous follicular papules with focal scaling on scalp after 1 month of gefitinib treatment. Later developed increased scalp lesions with hair loss after switching to erlotinib. Also had paronychia, pruritus, and dry skin. No fever or constitutional symptoms. Potassium hydroxide (KOH) preparation of scalp lesions was negative.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/24026603/fig/1.jpg"], "caption": "Clinical photograph of the scalp vertex.", "detailed_caption": "Shows numerous pustules with an erythematous base on the scalp vertex", "modalities": ["clinical"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/24026603/fig/2.jpg"], "caption": "Skin biopsy, H&E staining.", "detailed_caption": "Skin biopsy showing diffuse inflammatory cell infiltration around hair follicles and in the dermis, with predominant lymphoplasmacytic cells and focal neutrophils (hematoxylin-eosin staining)", "modalities": ["pathology"]}], "diagnosis": "EGFR–induced acneiform eruption", "standardized_diagnosis": [{"original_term": "EGFR-induced acneiform eruption", "corrected_term": null, "code": "EH67.Y", "title": "Acneiform drug eruption", "chapter": "Diseases of the skin", "primary": true}]}, "year": 2013, "classification": "Dermatologic and mucosal diseases"}
+{"pmid": "23678275", "patient_info": {"basic_info": "A 30-month-old boy presented with sudden cardiac arrest during anesthesia induction with sevoflurane and nitric oxide before plastic surgery on June 7, 2004. The patient had never undergone ECG before the operation. Physical examination revealed distinctive facial features including a round face, small upper jaw and teeth, and nearly bald head. He had normal toes, with no history of seizure or syncope, and normal neurodevelopment. The patient was born via vaginal delivery without complications. Echocardiogram showed no intracardiac anomaly with normal ventricular function. Preoperative biochemical analysis and electrolyte levels were normal. Family history was notable for his older sister showing paradoxical QT interval prolongation on epinephrine stress test (QTc baseline 0.4 → peak 0.53 sec), though she was asymptomatic. The QT intervals of parents and sister were not significantly prolonged on ECG, and there was no family history of syncope, seizure, or sudden death.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23678275/fig/1.jpg"], "caption": "(A) Clinical photograph of the hands, dorsal view, preoperative. (B) Plain radiograph of the hands, dorsal view, preoperative.", "detailed_caption": "Figure 1 consists of two clinical photographs and corresponding radiographs demonstrating bilateral cutaneous syndactyly involving the third, fourth, and fifth fingers in a pediatric patient, as shown on page 2; the images depict the anatomical site (hands) at an unspecified preoperative time point, with the modality for the left panel being a gross clinical photograph and for the right panel being plain radiographs, both acquired in a dorsal (top-down) view, with no additional imaging or staining modalities used, and the key finding is the presence of fused soft tissue connecting the specified digits on both hands.", "modalities": ["clinical", "x-ray"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/23678275/fig/2.jpg"], "caption": "(A) 12-lead ECG after resuscitation. (B) ECG. (C) ECG.", "detailed_caption": "ECG characteristics of long QT syndrome showing (A) 12-lead ECG after resuscitation with markedly prolonged QT interval, (B) markedly prolonged ventricular repolarization period resulting in functional 2:1 atrioventricular block, and (C) T-wave alternans with severe QT interval prolongation", "modalities": ["electrophysiology"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/23678275/fig/3.jpg"], "caption": "Genetic analysis of the CACNA1C gene, sequencing, identified c.1216G>A (p.Gly406Arg) in exon 9.", "detailed_caption": "Sequencing of the CACNA1C gene indicating the point mutation c.1216G>A (p.Gly406Arg) in exon 9", "modalities": ["genetic"]}], "diagnosis": "Timothy syndrome (genetically proven with CACNA1C mutation p.Gly406Arg)", "standardized_diagnosis": [{"original_term": "Timothy syndrome", "corrected_term": null, "code": "BC65.0", "title": "Timothy syndrome", "chapter": "Diseases of the circulatory system", "primary": true}]}, "year": 2013, "classification": "Genetic and congenital disorders"}
+{"pmid": "23944304", "patient_info": {"basic_info": "71-year-old man presented with gross painless hematuria and passage of clots. Medical history included: lower urinary tract symptoms, urinary retention (with transurethral resection of prostate 12 years prior), erectile dysfunction, hypertrophic cardiomyopathy, hypertension, hyperlipidemia, diverticulosis, mild obstructive sleep apnea, and nephrolithiasis. PSA was 13.0 ng/mL. Physical exam showed pulse 50 bpm, normal blood pressure/temperature/respiratory rate/oxygen saturation, BMI 30.0. Lab results showed potassium 3.3 mmol/L (low), creatinine 1.3 mg/dL, urea nitrogen 15 mg/dL, estimated GFR 59 mL/min/1.73m2. Complete blood count and other electrolytes were normal.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23944304/fig/1.jpg"], "caption": "(A, B) Axial CT images of the bladder. (C) Sagittal reformatted CT image of the bladder. (D) Coronal reformatted CT image of the bladder.", "detailed_caption": "Axial images (Panels A and B) show the presence of lobular, high-density material in the bladder (arrows), a finding consistent with blood clot. Sagittal (Panel C) and coronal (Panel D) reformatted images show that the high-density area (arrows) projects beyond the outline of the bladder, most likely representing hemorrhage in a bladder diverticulum.", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/23944304/fig/2.jpg"], "caption": "(A) Bladder mass histology. (B) High magnification bladder mass histology. (C) Prostate core biopsy, Gleason score 6 (3+3).", "detailed_caption": "A glandular mass (Panel A, arrows) appears underneath normal urothelium (arrowhead). In a view at high magnification (Panel B), neoplastic columnar cells form papillary (arrow) and tubular (arrowheads) structures. In addition to the ductal-type adenocarcinoma in the bladder neck, acinar-type prostatic adenocarcinoma (Panel C), Gleason score 6 (3+3), with a well-formed lumen (arrows) is seen in cores from the trans rectal biopsy of the prostate; the arrowhead shows a normal gland.", "modalities": ["pathology"]}], "diagnosis": "Ductal adenocarcinoma of the prostate", "standardized_diagnosis": [{"original_term": "Ductal adenocarcinoma of the prostate", "corrected_term": null, "code": "2C82.0", "title": "Adenocarcinoma of prostate", "chapter": "Neoplasms", "primary": true}]}, "year": 2013, "classification": "Neoplastic diseases"}
+{"pmid": "23841733", "patient_info": {"basic_info": "A 68-year-old man presented to the cancer center with metastatic melanoma. Five weeks before presentation, he developed pain and swelling in the right leg and groin, with subsequent resolution of pain and erythema following cephalexin treatment, though the mass persisted. He reported feeling well with no pain, fatigue, nausea, weight loss, headaches, cough, or dyspnea. His medical history included hypertension, gastroesophageal reflux disease, diverticulitis, cardiomyopathy, coronary artery disease with stent placement one year prior, and hearing loss. He had extensive sun exposure history and worked as a landscaper and mechanic. He smoked three packs daily for 20 years but stopped 20 years earlier. On examination, his blood pressure was 151/87 mm Hg, with decreased hearing and a hearing aid in the right ear. Physical examination revealed masses in the right groin and right medial thigh measuring 6 cm and 5 cm in maximal dimension respectively, with mild erythema and swelling of the right thigh and a well-healed scar on the right calf. No cervical, supraclavicular, submental, occipital, or axillary adenopathy was present. Laboratory studies showed blood glucose of 56 mg per deciliter (reference 70-110 mg/dL), while complete blood count, prothrombin time, renal and liver function tests, and levels of electrolytes, total protein, albumin, and globulin were all normal.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/23841733/fig/1.jpg"], "caption": "CT of the chest, abdomen, and pelvis.", "detailed_caption": "CT of the chest, abdomen, and pelvis revealed enlarged retroperitoneal, pelvic sidewall, and inguinal lymph nodes on the right side, with the largest lymph node (4 cm in diameter) in the right groin.", "modalities": ["ct"]}, {"type": "fig", "id": 3, "subfig": "A", "path": ["images/23841733/fig/2.jpg"], "caption": "Skin biopsy specimen of the metastasis in the right groin before treatment, H&E staining.", "detailed_caption": "A skin-biopsy specimen of the metastasis in the right groin before treatment (hematoxylin and eosin) shows malignant epithelioid cells with hyperchromatic nuclei. Many of the cells also show dusty-brown cytoplasmic pigmentation that is consistent with malignant melanoma.", "modalities": ["pathology"]}, {"type": "fig", "id": 3, "subfig": "C", "path": ["images/23841733/fig/3.jpg"], "caption": "Biopsy specimen, Melan-A (MART1) staining, high magnification.", "detailed_caption": "The pretreatment biopsy specimen at high magnification with staining for Melan-A (melanocyte antigen, also known as MART1 [melanoma antigen recognized by T cells 1]) shows diffuse cytoplasmic staining of the malignant epithelioid cells.", "modalities": ["pathology"]}], "diagnosis": "Metastatic melanoma with a BRAF V600E mutation", "standardized_diagnosis": [{"original_term": "Metastatic melanoma", "corrected_term": null, "code": "2E2Z", "title": "Metastatic melanoma of unspecified site", "chapter": "Neoplasms", "primary": true}]}, "year": 2013, "classification": "Neoplastic diseases"}
+{"pmid": "23910432", "patient_info": {"basic_info": "A 17-year-old boy presented to the hospital with a wound infection that developed 5 days after undergoing urological surgery. The patient came for evaluation and management of this post-surgical complication.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23910432/fig/1.jpg"], "caption": "CT scan of the pelvis, proximal femurs included.", "detailed_caption": "CT scan of the pelvis performed to assess the depth of the wound infection revealed multiple well circumscribed, ovoid, radiodense bony lesions in the pelvis and proximal femurs. These lesions showed the characteristic appearance of osteopoikilosis with symmetric distribution and sclerotic bone changes without bone destruction.", "modalities": ["ct"]}], "diagnosis": "Osteopoikilosis", "standardized_diagnosis": [{"original_term": "Osteopoikilosis", "corrected_term": null, "code": "LD24.11", "title": "Osteopoikilosis", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": true}]}, "year": 2014, "classification": "Orthopedic and connective tissue disorders"}
+{"pmid": "23733759", "patient_info": {"basic_info": "A 64-year-old man presented to the Accident and Emergency Department with an area of erythema over his right hand associated with fevers and rigors. Upon examination, he showed fevers and rigors.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/23733759/fig/1.jpg"], "caption": "Bone marrow trephine biopsy.", "detailed_caption": "Bone marrow trephine biopsy demonstrated a hypercellular bone marrow showing replacement of normal hematopoietic cells by sheets of primitive blast cells.", "modalities": ["pathology"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/23733759/fig/2.jpg"], "caption": "Bone marrow immunohistochemical staining, CD34, CD33, TdT, MPO, CD10, and Pax-5.", "detailed_caption": "Immunohistochemical staining of the bone marrow showed CD34 positive blast cells as well as CD33, terminal deoxynucleotidyl transferase (TdT), MPO, CD10, and Pax-5 positive blast cells.", "modalities": ["pathology"]}, {"type": "fig", "id": 2, "subfig": "A", "path": ["images/23733759/fig/3.jpg"], "caption": "(A) Clinical photograph of the right hand acquired several days after admission.", "detailed_caption": "A: Figure 2 (A) depicts a clinical photograph of the patient's right hand showing a large, well-demarcated area of necrosis involving the dorsal and volar aspects, with bandages partially removed to reveal extensive tissue loss, acquired several days after admission during the acute phase of rapidly progressing hand cellulitis and necrosis.", "modalities": ["clinical"]}, {"type": "fig", "id": 2, "subfig": "B", "path": ["images/23733759/fig/4.jpg"], "caption": "(B) Clinical photograph of the palmar aspect of the right hand acquired during hospital admission.", "detailed_caption": "B: Figure 2 (B) presents a clinical photograph showing the palmar (volar) aspect of the right hand following dramatic progression of necrosis, demonstrating a large, well-demarcated necrotic area with evidence of surgical debridement; the image was acquired during hospital admission as part of the diagnostic and clinical course in a patient with acute myeloid leukemia complicated by extensive cutaneous and subcutaneous necrosis.", "modalities": ["clinical"]}, {"type": "fig", "id": 3, "subfig": "A", "path": ["images/23733759/fig/5.jpg"], "caption": "Skin biopsy.", "detailed_caption": "Skin biopsy showed widespread erosion and ulceration of the epidermis with dermis extensively infiltrated by monomorphic pink cells with large nuclei showing irregular grooved margins and a small rim of cytoplasm.", "modalities": ["pathology"]}, {"type": "fig", "id": 3, "subfig": "B", "path": ["images/23733759/fig/6.jpg"], "caption": "Histopathological section of skin from the affected hand, H&E staining, intermediate magnification.", "detailed_caption": "B: Figure 3B demonstrates a histopathological section of skin obtained from the affected hand, stained with hematoxylin and eosin (H&E) at an intermediate magnification, showing extensive dermal infiltration by monomorphic pink cells with large nuclei and irregular grooved margins, features indicative of eosinophilic precursors.", "modalities": ["pathology"]}, {"type": "fig", "id": 3, "subfig": "C", "path": ["images/23733759/fig/7.jpg"], "caption": "Skin biopsy, immunohistochemistry, CD34-negative, TdT-negative, MPO-positive.", "detailed_caption": "Immunohistochemistry of skin biopsy showed CD34-, TdT-, and MPO-positive cells matching the findings of the bone marrow specimen.", "modalities": ["pathology"]}], "diagnosis": "High-count acute myeloid leukemia with acute infiltrative leukemia cutis", "standardized_diagnosis": [{"original_term": "Acute myeloid leukemia", "corrected_term": null, "code": "2A60.3Z", "title": "Acute myeloid leukaemia, unspecified", "chapter": "Neoplasms", "primary": true}, {"original_term": "Acute infiltrative leukemia cutis", "corrected_term": null, "code": "2E08", "title": "Leukaemia cutis", "chapter": "Neoplasms", "primary": false}]}, "year": 2013, "classification": "Neoplastic diseases"}
+{"pmid": "23857970", "patient_info": {"basic_info": "63-year-old male, former smoker. Medical history: Left lower lobectomy with systematic lymph node dissection for pulmonary adenocarcinoma in October 2004 (papillary adenocarcinoma, moderately differentiated with micropapillary component, pT1aN2M0 stage IIIA). Four years later had tumor recurrence in subcarinal lymph node (#7). After two years, lymph node grew and new lesion detected in right lower lobe (S10). Molecular testing showed EML4-ALK rearrangement. Current presentation: Pyrexia (38°C), progressive dyspnea, cough with hemoptysis. Vital signs: temperature 38.1°C, BP 115/55 mmHg, pulse 86/min, respiratory rate 24/min. Physical exam showed inspiratory crackles in right lung fields. Arterial blood gases (on 10L/min O2): PaO2 50.5 torr, PaCO2 61.7 torr, pH 7.42. Lab results: WBC 10,590/μL (85% neutrophils, 0.2% eosinophils, 8% lymphocytes), Hb 13.1 g/dL, INR 1.9, CRP 15.2 mg/dL, creatinine 1.68 mg/dL, AST 70 IU/L, ALT 77 IU/L, LDH 480 IU/L, CK 269 U/L, surfactant protein-D 179 ng/mL, KL-6 934 U/mL. Normal ECG and echocardiography. Negative serologic tests for collagen vascular diseases. Negative sputum and blood cultures.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/23857970/fig/1.jpg"], "caption": "Chest x-ray.", "detailed_caption": "Chest x-ray showed extensive bilateral diffuse pulmonary infiltration", "modalities": ["x-ray"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/23857970/fig/2.jpg"], "caption": "CT of the lungs.", "detailed_caption": "CT revealed bilateral, predominantly dependent and diffuse ground-glass attenuation", "modalities": ["ct"]}, {"type": "fig", "id": 1, "subfig": "C", "path": ["images/23857970/fig/3.jpg"], "caption": "(C) Chest CT, coronal view, performed on admission.", "detailed_caption": "C: Coronal chest computed tomography obtained on admission demonstrates bilateral, predominantly dependent and diffuse ground-glass attenuation with a \"reverse butterfly\" shadow pattern, indicative of acute lung injury; image modality is CT, anatomical site is the lungs, and timing corresponds to the acute presentation following crizotinib therapy.", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/23857970/fig/4.jpg"], "caption": "Fiberoptic bronchoscopy of the right bronchus intermedius, performed during the acute phase following onset of respiratory symptoms.", "detailed_caption": "Figure 2 shows a fiberoptic bronchoscopy image of the right bronchus intermedius, demonstrating bronchial hemorrhage (as indicated by the asterisk), with no evidence of Pneumocystis carinii pneumonia, acid-fast bacilli, fungi, or malignancy; the specimen was obtained during the acute phase following the onset of respiratory symptoms.", "modalities": ["endoscopy"]}], "diagnosis": "Drug-induced acute lung injury (ALI)/acute respiratory distress syndrome (ARDS) and diffuse alveolar hemorrhage (DAH) related to crizotinib therapy", "standardized_diagnosis": [{"original_term": "Drug-induced acute lung injury", "corrected_term": null, "code": "NB32.3Z", "title": "acute lung injury NOS", "chapter": "Injury, poisoning or certain other consequences of external causes", "primary": true}, {"original_term": "Acute respiratory distress syndrome", "corrected_term": null, "code": "CB00", "title": "Acute respiratory distress syndrome", "chapter": "Diseases of the respiratory system", "primary": false}, {"original_term": "Diffuse alveolar hemorrhage", "corrected_term": null, "code": "DA0A.Y", "title": "alveolar haemorrhage", "chapter": "Diseases of the digestive system", "primary": false}]}, "year": 2013, "classification": "Neoplastic diseases"}
+{"pmid": "23804256", "patient_info": {"basic_info": "A 45-year-old white man was found dead at home and underwent autopsy as the cause of death was not apparent. He had recently been under review by the respiratory team for poor respiratory function and patchy fibronodular lung changes. His medical history included osteomyelitis of the elbow, congenital kyphoscoliosis, and testicular seminoma, which had been treated with orchidectomy and chemotherapy. At postmortem examination, the abdominal cavity contained copious pus covering the serosal aspect of the small bowel. There was an obvious perforation at the level of the mid-ileum, as well as three ulcers on the mucosal aspect of the ileum, one of which had perforated. Widespread pale nodules measuring up to 5 mm each were noted throughout the parenchyma of both lungs and a small pale lesion was present in the left kidney. No abnormalities were seen in the cardiovascular, endocrine, or central nervous systems.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23804256/fig/1.jpg"], "caption": "Histological section of the small bowel.", "detailed_caption": "Histological section of the small bowel shows widespread granulomatous inflammation within the submucosa and muscularis propria of the bowel, with a Langhans giant cell visible. Small bowel villi are not easily visible due to autolysis from decomposition, and caseous necrosis characteristic of tuberculosis is seen focally.", "modalities": ["pathology"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/23804256/fig/2.jpg"], "caption": "Higher power histological section of small bowel.", "detailed_caption": "Higher power view of histological section of small bowel shows almost confluent granulomas and associated Langhans giant cells.", "modalities": ["pathology"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/23804256/fig/3.jpg"], "caption": "Histological section of the lung.", "detailed_caption": "Histological section of the lung shows granulomas, Langhans giant cells, and prominent caseous necrosis similar to findings in the kidney and lung.", "modalities": ["pathology"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/23804256/fig/4.jpg"], "caption": "Ziehl-Neelsen staining of bowel, kidney, and lung.", "detailed_caption": "Ziehl-Neelsen staining shows abundant acid fast bacilli within the bowel, kidney, and lung, indicating disseminated tuberculosis.", "modalities": ["pathology"]}], "diagnosis": "Disseminated tuberculosis", "standardized_diagnosis": [{"original_term": "Disseminated tuberculosis", "corrected_term": null, "code": "1B13.Z", "title": "disseminated tuberculosis", "chapter": "Certain infectious or parasitic diseases", "primary": true}]}, "year": 2013, "classification": "Infectious and immunologic disorders"}
+{"pmid": "24120206", "patient_info": {"basic_info": "A 45-year-old man presented with dry cough and breathlessness. During the investigation, he was found to be infected with HIV. Physical examination and other baseline clinical details were not specifically described in this brief case report.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/24120206/fig/1.jpg"], "caption": "Chest X-ray of the lungs.", "detailed_caption": "Chest X-ray shows bilateral pulmonary infiltrates with a diffuse, ground-glass appearance affecting both lungs", "modalities": ["x-ray"]}], "diagnosis": "HIV infection with pulmonary manifestations (specific pulmonary diagnosis not explicitly stated in the provided text)", "standardized_diagnosis": [{"original_term": "HIV infection", "corrected_term": null, "code": "1C62.Z", "title": "HIV infection", "chapter": "Diseases of the immune system", "primary": true}, {"original_term": "Pulmonary disease", "corrected_term": null, "code": "CB40.Y", "title": "Lung disease NOS", "chapter": "Diseases of the respiratory system", "primary": false}]}, "year": 2013, "classification": "Infectious and immunologic disorders"}
+{"pmid": "24119978", "patient_info": {"basic_info": "34-year-old white male presented with an indurated plaque on the forehead that extended onto the scalp over approximately 1 year. Initial laboratory findings showed positive antinuclear antibodies (1:200) and slightly increased C3d complement; other laboratory tests were normal.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/24119978/fig/1.jpg"], "caption": "Clinical photograph of the forehead and scalp.", "detailed_caption": "Shows linear erythematous, non-scaling plaque on the forehead and non-scarring alopecia, following lines of Blaschko", "modalities": ["clinical"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/24119978/fig/2.jpg"], "caption": "Skin biopsy, Alcian-PAS staining.", "detailed_caption": "Skin biopsy shows normal epidermis, dermal and subcutaneous mucin accumulation, and predominantly lobular lymphocytic panniculitis (Alcian-PAS staining)", "modalities": ["pathology"]}], "diagnosis": "Linear cutaneous lupus profundus", "standardized_diagnosis": [{"original_term": "Linear cutaneous lupus profundus", "corrected_term": null, "code": "EB51.Y", "title": "Lupus profundus", "chapter": "Diseases of the skin", "primary": true}]}, "year": 2014, "classification": "Dermatologic and mucosal diseases"}
+{"pmid": "23897952", "patient_info": {"basic_info": "70-year-old man with history of Gleason 9 (4+5) adenocarcinoma treated with radical prostatectomy 10 years ago. Presented to primary care with rectal pain persisting for several weeks. Patient had lost 20 lbs over 3-4 weeks and complained of progressive fatigue, poor appetite, severe tenesmus, and rectal pain. Patient had been living independently on West Coast but relocated to East Coast to be closer to adult children.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/23897952/fig/1.jpg"], "caption": "CT scan of the lungs, axial view.", "detailed_caption": "A: Computed tomography (CT) scan image showing bilateral lung metastases, with an axial view demonstrating multiple metastatic lesions present within both lung fields.", "modalities": ["ct"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/23897952/fig/2.jpg"], "caption": "CT scan of the liver.", "detailed_caption": "CT scan shows large liver metastasis", "modalities": ["ct"]}, {"type": "fig", "id": 1, "subfig": "C", "path": ["images/23897952/fig/3.jpg"], "caption": "CT scan of the prostatectomy bed.", "detailed_caption": "CT scan shows soft tissue mass arising from the prostatectomy bed", "modalities": ["ct"]}], "diagnosis": "Recurrent metastatic prostate adenocarcinoma with small-cell transformation, with metastases to lungs, liver, and perirectal area", "standardized_diagnosis": [{"original_term": "Prostate adenocarcinoma", "corrected_term": null, "code": "2C82.0", "title": "Adenocarcinoma of prostate", "chapter": "Neoplasms", "primary": true}]}, "year": 2013, "classification": "Neoplastic diseases"}
+{"pmid": "24024842", "patient_info": {"basic_info": "A 52-year-old man with a medical history of hypertension, dyslipidemia, and coronary artery disease presented with chest pain and ST-segment elevations on electrocardiography. His coronary artery disease history was significant, including a bare-metal stent placement in the middle portion of the left anterior descending coronary artery 12 years prior and two drug-eluting stents placed in the left circumflex artery 5 years later due to obstructing lesions. On the morning of admission, his girlfriend found him unresponsive on the floor at home, after which he regained consciousness and reported chest pain and dizziness. He took two nitroglycerin tablets sublingually and had taken his regular 325 mg aspirin earlier. EMS examination revealed he was alert and oriented but appeared uncomfortable, with pale and diaphoretic skin. His vital signs showed blood pressure 110/90 mm Hg, pulse 51 beats per minute, respiratory rate 18 breaths per minute, and oxygen saturation 98%. He reported chest pain rated 7/10. Nausea and vomiting developed during transport. In the ambulance, he became increasingly pale and diaphoretic and was unresponsive to voice. Upon arrival at the emergency department, he was initially alert and oriented, but within seconds his pulse decreased to 36 beats per minute and QRS complexes widened on the cardiac monitor. External pacing was attempted without mechanical capture. Brief seizure activity occurred, followed by runs of ventricular tachycardia with wide ventricular complexes. He became unresponsive with unobtainable blood pressure and carotid pulses, and the cardiac monitor revealed ventricular fibrillation. Laboratory results showed plasma total carbon dioxide 19.5 mmol/L, anion gap 17 mmol/L, phosphorus 2.3 mg/dL, and glucose 145 mg/dL; other electrolytes, complete blood count, liver and renal function tests were normal, and troponin I screening was negative.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/24024842/fig/1.jpg"], "caption": "Coronary angiogram of the right coronary artery.", "detailed_caption": "Coronary angiogram showing thrombotic occlusion in the middle portion of the right coronary artery (marked with arrowhead).", "modalities": ["angiography"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/24024842/fig/2.jpg"], "caption": "Coronary angiogram of the right coronary artery.", "detailed_caption": "Coronary angiogram showing restored flow in the right coronary artery after placement of a bare-metal stent (marked with arrows), with a temporary pacing wire visible (arrowhead).", "modalities": ["angiography"]}], "diagnosis": "Cardiac arrest due to ventricular fibrillation caused by acute myocardial infarction with ST-segment elevation (STEMI)", "standardized_diagnosis": [{"original_term": "Cardiac arrest", "corrected_term": null, "code": "MC82.Z", "title": "Cardiac arrest", "chapter": "Diseases of the circulatory system", "primary": false}, {"original_term": "Ventricular fibrillation", "corrected_term": null, "code": "BC71.1", "title": "Ventricular fibrillation", "chapter": "Diseases of the circulatory system", "primary": false}, {"original_term": "Acute myocardial infarction with ST-segment elevation", "corrected_term": null, "code": "BA41.0", "title": "Acute ST segment elevation myocardial infarction", "chapter": "Diseases of the circulatory system", "primary": true}]}, "year": 2013, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "24104373", "patient_info": {"basic_info": "Dr T is an 85-year-old male physician with a history of hypertension and aortic stenosis who was in his usual state of health until 2 months prior to presentation, when he noticed mild shortness of breath while walking up an incline. Symptoms were inconsistent and did not progress. He was able to walk on level surfaces and pursue normal daily activities without difficulty. He denied chest pain, orthopnea, paroxysmal nocturnal dyspnea, peripheral edema, lightheadedness, or syncope, and had no history of coronary artery disease. His past medical history included recurrent skin cancers, restless leg syndrome, chronic constipation, and hyperlipidemia. Current medications included hydrochlorothiazide 50 mg, lisinopril 40 mg, pramipexole 0.25 mg, simvastatin 20 mg daily, and metoprolol tartrate 50 mg twice daily. He was a semiretired allergist-immunologist, married, living with his wife, with 2 grown children. He consumed 1-2 glasses of wine per week and had no history of cigarette smoking. Physical examination revealed blood pressure 124/78 mm Hg, regular pulse 64/min, jugular venous pressure 6 cm, palpable carotid arteries with slightly delayed upstroke and no bruits, regular heart rhythm with normal S1, fixed split S2, no S3 or S4, grade 3/4 systolic ejection murmur loudest at right upper sternal border radiating toward the carotids, and point of maximal impulse was not displaced.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/24104373/fig/1.jpg"], "caption": "Transthoracic echocardiogram, continuous wave color Doppler of the aortic valve, performed in August 2008 and January 2009, aortic valve area 0.9 cm² (August 2008), 0.7 cm² (January 2009); peak velocity 4.1 m/s (August 2008), 4.9 m/s (January 2009); peak gradient 67 mm Hg (August 2008), 97 mm Hg (January 2009); mean gradient 43 mm Hg (August 2008), 68 mm Hg (January 2009).", "detailed_caption": "Transthoracic echocardiogram continuous wave color Doppler results showing progression of aortic stenosis from August 2008 to January 2009, with aortic valve area decreasing from 0.9 cm² to 0.7 cm², peak velocity increasing from 4.1 m/s to 4.9 m/s, peak gradient increasing from 67 mm Hg to 97 mm Hg, and mean gradient increasing from 43 mm Hg to 68 mm Hg", "modalities": ["ultrasound"]}, {"type": "tab", "id": 1, "subfig": null, "path": ["images/24104373/tab/2.jpg"], "caption": "Serial echocardiographic studies from March 2003 to January 2009.", "detailed_caption": "Serial echocardiographic studies from March 2003 to January 2009 showing progression of aortic stenosis with peak velocity increasing from 3.4 m/s to 4.9 m/s, peak gradient increasing from 46 mm Hg to 97 mm Hg, mean gradient increasing from 26 mm Hg to 68 mm Hg, and valve area decreasing from 1.0 cm² to 0.7 cm² over this period", "modalities": ["ultrasound"]}], "diagnosis": "Severe aortic stenosis", "standardized_diagnosis": [{"original_term": "Aortic stenosis", "corrected_term": null, "code": "LA8A.3", "title": "stenosis of aorta", "chapter": "Developmental anomalies", "primary": true}]}, "year": 2013, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "23959153", "patient_info": {"basic_info": "42-year-old white female, previously healthy, referred by optician with subjective loss of visual field, particularly in right eye. Recently lost confidence to drive. Central vision unaffected. No family history of eye problems. Best corrected distance visual acuity (Snellen) 6/6 bilaterally, near acuity N5 bilaterally. Mild relative afferent pupillary defect in right eye. Normal anterior segment examination bilaterally. Goldmann applanation tonometry showed pressures of 12 mm Hg in each eye. Dilated fundal examination showed unremarkable maculas and retinas. B-scan ultrasonography showed highly echogenic bodies in both optic nerve heads.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23959153/fig/1.jpg"], "caption": "(A) Color photograph of the right eye, optic nerve head. (B) Color photograph of the left eye, optic nerve head. (C) Autofluorescence imaging of the right optic disc. (D) Autofluorescence imaging of the left optic disc.", "detailed_caption": "Color photographs showing irregular disc margins and multiple excrescences over entire optic nerve head in both right (A) and left (B) eyes. Autofluorescent emissions visible from both right (C) and left (D) optic discs", "modalities": ["ophthalmic imaging"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/23959153/fig/2.jpg"], "caption": "(A) Goldmann visual field plot, right eye. (B) Goldmann visual field plot, left eye.", "detailed_caption": "Goldmann visual field plots showing bilateral advanced constriction, worse on the right (A) than the left (B)", "modalities": ["ophthalmic imaging"]}], "diagnosis": "Bilateral advanced optic disc drusen", "standardized_diagnosis": [{"original_term": "Optic disc drusen", "corrected_term": null, "code": "LA13.72", "title": "Drusen of optic disc", "chapter": "Diseases of the visual system", "primary": true}]}, "year": 2013, "classification": "Neurological disorders"}
+{"pmid": "24103443", "patient_info": {"basic_info": "A 62-year-old fit and well Romanian man presented with a two-week history of worsening acute localized pain in the upper abdomen and vomiting. His surgical history included an open appendectomy as a child and laparoscopic cholecystectomy 20 years ago. On presentation, he had fever (39°C) and tachycardia (104 beats/min), with blood pressure of 125/73 mm Hg. Physical examination revealed generalized abdominal tenderness, worse in the right upper quadrant, with localized guarding in the right upper quadrant. Blood tests showed a raised white cell count of 16 × 10⁹/L (reference range 4-10 × 10⁹/L) and a C reactive protein concentration of 277 mg/L (reference value <9 mg/L). A frontal projection erect chest radiograph was initially reported as showing pneumoperitoneum, but showed a normal bowel gas pattern under the left hemidiaphragm.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/24103443/fig/1.jpg"], "caption": "Chest radiograph, frontal (erect) projection.", "detailed_caption": "Frontal projection erect chest radiograph showing elevated right hemidiaphragm with ill-defined area of lucency and small pleural effusion on the right", "modalities": ["x-ray"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/24103443/fig/2.jpg"], "caption": "CT of the liver, transverse view.", "detailed_caption": "Computed tomography transverse image shows air/fluid level within the liver abscess", "modalities": ["ct"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/24103443/fig/3.jpg"], "caption": "(A) Coronal imaging of the retroperitoneum. (B) Coronal imaging of the retroperitoneum.", "detailed_caption": "Patient lying supine during the examination. Left coronal image through the retroperitoneum showing that the fluid has in the abscess gravitated posteriorly as a result of the patient’s position (arrow). The right coronal image shows air displaced anteriorly within the contained abscess (arrow)", "modalities": ["general imaging"]}], "diagnosis": "Pyogenic liver abscess (intrahepatic abscess)", "standardized_diagnosis": [{"original_term": "Pyogenic liver abscess", "corrected_term": null, "code": "DB90.0&XN74M", "title": "Pyogenic liver abscess", "chapter": "Diseases of the digestive system", "primary": true}, {"original_term": "Intrahepatic abscess", "corrected_term": null, "code": "DB90.0", "title": "Abscess of liver", "chapter": "Diseases of the digestive system", "primary": false}]}, "year": 2013, "classification": "Gastrointestinal disorders"}
+{"pmid": "24126859", "patient_info": {"basic_info": "A 56-year-old retired administrator was referred to dermatology for a second opinion on lifelong atopic dermatitis management. She had a history of allergic asthma controlled with beclomethasone dipropionate inhaler and had received multiple courses of oral prednisolone for flare-ups of both eczema and asthma. On examination, she presented with generalized atopic dermatitis, truncal obesity, and striae in the groins with cutaneous atrophy and spontaneous bruising. Laboratory investigations revealed severely suppressed adrenal function with baseline cortisol of 9 nmol/L (reference range 171-536 nmol/L), undetectable baseline ACTH <5 pmol/L (<46 pmol/L at 9 am), and inadequate response to synacthen stimulation test with peak cortisol of only 137 nmol/L (expected ≥500 nmol/L). Additional findings included impaired glucose tolerance and osteopenia with spinal T-score of -1.9.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/24126859/fig/1.jpg"], "caption": "(A) Clinical photograph of axillary folds acquired at the time of dermatological examination. (B) Clinical photograph of antecubital fossae acquired at the time of dermatological examination.", "detailed_caption": "Figure 1 consists of clinical photographs illustrating cutaneous adverse effects of steroid treatment, with subfigure A showing striae in the axillary folds and subfigure B depicting striae in the antecubital fossae; both images are gross clinical photographs acquired at the time of dermatological examination, documenting the anatomical sites affected and the morphological appearance of steroid-induced striae, without any staining or magnification technique involved.", "modalities": ["clinical"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/24126859/fig/2.jpg"], "caption": "Clinical photograph of the facial region.", "detailed_caption": "Figure 2 presents a clinical photograph of the patient's face demonstrating steroid-associated adverse effects, specifically showing telangiectasias and moon facies, with no mention of imaging modality or sample timing, and the anatomical site examined being the facial region.", "modalities": ["clinical"]}], "diagnosis": "iatrogenic Cushing's syndrome", "standardized_diagnosis": [{"original_term": "Iatrogenic Cushing's syndrome", "corrected_term": null, "code": "5A70.Y", "title": "Iatrogenic Cushing syndrome", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": true}]}, "year": 2013, "classification": "Endocrine and metabolic disorders"}
+{"pmid": "24030560", "patient_info": {"basic_info": "A 68-year-old woman with a longstanding history of non-specific inflammatory arthritis presented with a three-month history of flashing lights and blurred vision. She had been taking 400 mg hydroxychloroquine daily for 15 years, along with meloxicam, omeprazole, and amitriptyline. She was of normal body weight. Ophthalmological assessment revealed reduced visual acuity at 6/18 in the right eye and 6/12 in the left eye, with mild depression in color vision on Ishihara plate testing. Early cataracts were present.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/24030560/fig/1.jpg"], "caption": "Color fundus photography of both maculas.", "detailed_caption": "Color fundus photography shows bilateral disturbance of retinal pigments at both maculas giving a 'bull's eye' appearance", "modalities": ["ophthalmic imaging"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/24030560/fig/2.jpg"], "caption": "Automated perimetry visual field testing of both eyes.", "detailed_caption": "Figure 2 presents the results of formal visual field testing using automated perimetry, demonstrating bilateral annular scotomas characteristic of toxic retinopathy; the modality is automated visual field assessment, examining both eyes, with the key finding being ring-shaped visual field deficits consistent with macular involvement.", "modalities": ["ophthalmic imaging"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/24030560/fig/3.jpg"], "caption": "Fluorescein angiography of both eyes.", "detailed_caption": "Fluorescein angiography shows bilateral bull's eye maculopathy with parafoveal hyperfluorescence", "modalities": ["angiography", "ophthalmic imaging"]}], "diagnosis": "Toxic retinopathy secondary to hydroxychloroquine", "standardized_diagnosis": [{"original_term": "Toxic retinopathy", "corrected_term": null, "code": "9B71.Z", "title": "Retinopathy", "chapter": "Diseases of the visual system", "primary": true}]}, "year": 2013, "classification": "Orthopedic and connective tissue disorders"}
+{"pmid": "24259326", "patient_info": {"basic_info": "A 33-year-old white man was admitted to the coronary care unit with chest pain. Two hours prior to admission, he developed epigastric pain which evolved into central chest pain. He experienced one episode of vomiting accompanied by dizziness, dyspnea, sweating, and distal paresthesias. The pain had resolved by the time of admission. Later that day, he became nauseated, diaphoretic, and visibly pale, with blurred vision, muffled hearing, and tingling in both hands. His systolic blood pressure dropped to 89 mm Hg and cardiac monitoring showed a pause of 3-4 seconds with no P wave activity. His medical history included syncope with phlebotomy but no other vasovagal-type events. He had been experiencing flu-like symptoms and his daughter currently had gastroenteritis. His family history was significant for a sister diagnosed with drug-resistant epilepsy with multiple seizures. Physical examination on admission was normal, and subsequent examination after the hypotensive episode was also normal.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/24259326/fig/1.jpg"], "caption": "Twelve-lead electrocardiograph on admission.", "detailed_caption": "Twelve lead electrocardiograph on admission shows ST elevation that gradually descends into inverted T waves in leads V1 and V2, representing a 'coved' type 1 Brugada pattern", "modalities": ["electrophysiology"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/24259326/fig/2.jpg"], "caption": "Twelve-lead electrocardiograph performed three days after admission.", "detailed_caption": "Twelve lead electrocardiograph three days after admission shows a type 2 Brugada pattern", "modalities": ["electrophysiology"]}], "diagnosis": "Brugada syndrome", "standardized_diagnosis": [{"original_term": "Brugada syndrome", "corrected_term": null, "code": "BC65.1", "title": "Brugada syndrome", "chapter": "Diseases of the circulatory system", "primary": true}]}, "year": 2013, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "23924007", "patient_info": {"basic_info": "A 53-year-old woman born in Puerto Rico presented with progressive erythroderma and lymphadenopathy. Her symptoms began approximatelyuse, pruritic rash that progressed to total-body erythema over the next year. Initial physical examination revealed diffuse confluent erythroderma with superficial scaling and erosions, focal lichenification, palmoplantar hyperkeratosis, follicular prominence, madarosis (loss of eyelashes/eyebrows), bilateral small ectropion of eyelids, and painful pitting edema of legs. She had axillary and inguinal lymphadenopathy. Temperature was 37.3°C, pulse 126 beats per minute, and blood pressure 110/58 mm Hg. She reported progressive alopecia, weight gain of approximately 9 kg in 2 weeks, diffuse pruritus, and recurrent infections. She had no history of blood transfusions and was allergic to aspirin. Family history included two nieces with systemic lupus erythematosus. Testing for syphilis, HIV, and HTLV-1 was negative.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/23924007/tab/1.jpg"], "caption": "Laboratory results over multiple hospitalizations. Flow cytometry.", "detailed_caption": "Laboratory results over multiple hospitalizations showing persistent eosinophilia (ranging from 1% to 29%), elevated IgE levels reaching 26,260 IU/L, low total protein levels, anemia with hemoglobin as low as 10.8 g/dL, lymphocytosis, and other abnormalities including low iron, elevated LDH, and low albumin. Flow cytometry revealed elevated CD4:CD8 ratio of 10 and 7% CD3+CD7- cells expressing CD4.", "modalities": ["lab", "pathology"]}, {"type": "fig", "id": 1, "subfig": null, "path": ["images/23924007/fig/2.jpg"], "caption": "(A) Chest CT. (B) Pelvis CT.", "detailed_caption": "Selected images from CT scans of the chest (Panel A) and pelvis (Panel B) show axillary and inguinal lymphadenopathy (arrows), as well as subcutaneous edema of the pelvis (arrowhead).", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": "A, B, C", "path": ["images/23924007/fig/3.jpg"], "caption": "Clinical photograph.", "detailed_caption": "Clinical photographs demonstrating diffuse erythroderma, alopecia, and edema before treatment.", "modalities": ["clinical"]}, {"type": "fig", "id": 3, "subfig": "A", "path": ["images/23924007/fig/4.jpg"], "caption": "Skin biopsy of the left forearm.", "detailed_caption": "Skin biopsy from left forearm showing hyperplastic epithelium with pityriasiform scale, spongiosis, and moderately dense dermal lymphoid infiltrate composed of small-to-medium-size atypical lymphoid cells with cerebriform, convoluted nuclei and epidermotropism.", "modalities": ["pathology"]}, {"type": "fig", "id": 3, "subfig": "B", "path": ["images/23924007/fig/5.jpg"], "caption": "Immunohistochemical staining of skin biopsy for CD3, CD4, CD5, CD7, and CD2.", "detailed_caption": "Immunohistochemical staining of skin biopsy revealing CD3+, CD4+, and CD5+ T cells with loss of CD7 and CD2 expression in the atypical lymphoid infiltrate.", "modalities": ["pathology"]}, {"type": "fig", "id": 3, "subfig": "C", "path": ["images/23924007/fig/6.jpg"], "caption": "Bone marrow biopsy, no staining method or magnification specified, CD3+, CD4+, CD2–, CD7–.", "detailed_caption": "Bone marrow biopsy showing hypercellular marrow with increased eosinophils and atypical lymphohistiocytic infiltrate composed of convoluted lymphoid cells expressing CD3 and CD4 with loss of CD2 and CD7.", "modalities": ["pathology"]}], "diagnosis": "Sézary syndrome", "standardized_diagnosis": [{"original_term": "Sézary syndrome", "corrected_term": null, "code": "2B02", "title": "Sézary syndrome", "chapter": "Diseases of the skin", "primary": true}]}, "year": 2013, "classification": "Neoplastic diseases"}
+{"pmid": "24265573", "patient_info": {"basic_info": "A 1-year and 4-month-old girl was admitted for evaluation of psychomotor retardation and an operation for exotropia. She was born at term (gestational age: 40 weeks) by cesarean delivery after an uneventful pregnancy, and was the first child of healthy, unrelated parents. The family history was unremarkable. On admission, she presented with a characteristic high-pitched cry and microcephaly. She showed delayed motor functions and crawling, was able to sit unassisted but unable to stand, with developmental characteristics lagging behind for normal chronologic age. On neurologic examination, she had left leg hypotonia, with normal tendon reflexes and normal cranial nerve signs. When she was 6 months old, ventricular septal defect was detected by echocardiography. Chromosome analysis revealed 46,XX,del (5) (p15.2) one month after delivery.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/24265573/fig/1.jpg"], "caption": "(A) Brain MRI, sagittal view, T1-weighted sequence. (B-D) Brain MRI, axial view, T2-weighted sequence.", "detailed_caption": "Sagittal T1-weighted (A) and axial T2-weighted (B-D) images show hypoplasia of brainstem, most prominently in pons, with normal cerebellum, thinning of corpus callosum and mega cisterna magna (A, C). Mild atrophy of both frontal and temporal lobes and decreased myelination in both anterior limbs of internal capsules (arrows) are seen (D).", "modalities": ["mri"]}], "diagnosis": "Cri-du-Chat syndrome (5 p-syndrome)", "standardized_diagnosis": [{"original_term": "Cri-du-Chat syndrome", "corrected_term": null, "code": "LD44.51", "title": "Cri-du-chat syndrome", "chapter": "Developmental anomalies", "primary": true}]}, "year": 2013, "classification": "Genetic and congenital disorders"}
+{"pmid": "24147210", "patient_info": {"basic_info": "43-year-old female with chronic back pain and depression who attempted suicide by overdosing on diazepam (40-50 tablets of 5mg) and an unknown quantity of methadone. Found unresponsive with respiratory rate of 4 breaths per minute. Initial labs showed elevated potassium of 7.6 and leukocytosis due to mild aspiration pneumonia.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/24147210/fig/1.jpg"], "caption": "CT scan performed 3 weeks after initial event.", "detailed_caption": "CT scan showed marked and diffuse hypointensity throughout the subcortical white matter when patient deteriorated 3 weeks after initial event", "modalities": ["ct"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/24147210/fig/2.jpg"], "caption": "MRI, brain, FLAIR and T2-weighted sequences.", "detailed_caption": "MRI revealed confluent changes throughout the entire white matter, appearing diffusely hyperintense on both FLAIR and T2 weighted sequences", "modalities": ["mri"]}, {"type": "fig", "id": 2, "subfig": "A", "path": ["images/24147210/fig/3.jpg"], "caption": "Axial T2-weighted MRI of the brain.", "detailed_caption": "Axial T2 weighted image showed extensive confluent hyperintense signal abnormality throughout subcortical white matter with spared cerebellar white matter and no obvious cortical signal change", "modalities": ["mri"]}, {"type": "fig", "id": 2, "subfig": "B", "path": ["images/24147210/fig/4.jpg"], "caption": "MR spectroscopy of subcortical white matter.", "detailed_caption": "MR spectroscopy of subcortical white matter showed abnormally high peaks for creatinine and choline, with small lactic acid peak present", "modalities": ["mri"]}], "diagnosis": "Delayed post-hypoxic leukoencephalopathy (DPHLE) following benzodiazepine and methadone overdose", "standardized_diagnosis": [{"original_term": "Delayed post-hypoxic leukoencephalopathy", "corrected_term": null, "code": "8E7Y", "title": "leukoencephalopathy", "chapter": "Diseases of the nervous system", "primary": true}, {"original_term": "Benzodiazepine overdose", "corrected_term": null, "code": "PC91", "title": "Intentional overdose of benzodiazepines", "chapter": "External causes of morbidity or mortality", "primary": false}, {"original_term": "Methadone overdose", "corrected_term": null, "code": "PC90&XM7XP1", "title": "Intentional overdose of methadone", "chapter": "External causes of morbidity or mortality", "primary": false}]}, "year": 2013, "classification": "Neurological disorders"}
+{"pmid": "24054536", "patient_info": {"basic_info": "51-year-old man undergoing venesection for haemochromatosis. During procedure, experienced sudden gurgling sensation up his arm, followed by severe central crushing chest pain with radiation to jaw and left arm, severe dyspnoea, and left sided hemiparesis and dysphasia. On arrival to hospital: hypoxic (oxygen saturation 88% on room air), left hemiplegia (resolved within 15 minutes). Initial ECG showed T-wave inversion inferiorly. Troponin I was raised at 0.14 μg/L (ref 0-0.08 μg/L). Transthoracic echocardiography with bubble study showed right-to-left shunting during normal respiration and Valsalva. Baseline right heart pressures were normal. Transoesophageal echocardiogram confirmed patent foramen ovale with passage of bubbles.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/24054536/fig/1.jpg"], "caption": "CT pulmonary angiogram of the lung.", "detailed_caption": "CT pulmonary angiogram showed filling defect in a subsegmental branch of the lingula, suggestive of pulmonary embolism", "modalities": ["ct", "angiography"]}], "diagnosis": "Peripheral air embolism with paradoxical embolism through patent foramen ovale, causing pulmonary embolism and transient cerebral and myocardial ischemia", "standardized_diagnosis": [{"original_term": "Peripheral air embolism", "corrected_term": null, "code": "NF0A.0", "title": "air embolism", "chapter": "Injury, poisoning or certain other consequences of external causes", "primary": true}, {"original_term": "Pulmonary embolism", "corrected_term": null, "code": "BB00.Z", "title": "pulmonary embolism NOS", "chapter": "Diseases of the circulatory system", "primary": false}, {"original_term": "Transient cerebral ischemia", "corrected_term": null, "code": "8B10.Z", "title": "Transient cerebral ischemia", "chapter": "Diseases of the nervous system", "primary": false}, {"original_term": "Transient myocardial ischemia", "corrected_term": null, "code": "KB44", "title": "Transient myocardial ischaemia of newborn", "chapter": "Certain conditions originating in the perinatal period", "primary": false}]}, "year": 2013, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "24106939", "patient_info": {"basic_info": "A 29-year-old man from Central America, who had been living in the United States for 4 years and worked in agriculture, presented with a 6-week history of unintentional weight loss (10 kg loss from his usual weight of 64.4 kg), followed by severe upper abdominal pain (rated 8/10) that radiated to his throat and worsened with eating. Three weeks before presentation, he developed nausea, occasional vomiting, decreased food intake, and later experienced one episode of hematemesis and sore throat with fever. He had a history of respiratory illness approximately 2 years earlier and was a heterosexual male who reported having no more than eight partners in his lifetime with consistent condom use. On physical examination, he appeared cachectic with a temperature of 37.3°C initially, later rising to 38.3°C, blood pressure 101/68 mm Hg, pulse 114-119 beats per minute, and respiratory rate 18-20 breaths per minute. He weighed 47.6 kg with a BMI of 18.6. Physical findings included soft abdomen without tenderness initially, later becoming firm without distention, coarse breath sounds at both lung bases with scattered fine rales, white exudate on the underside of the tongue, and multiple nontender, mobile lymph nodes in the submandibular, submental, and cervical regions measuring 1-2 cm. He also had macular hyperpigmentation of the feet and legs that had been present for 10 years.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": "", "path": ["images/24106939/tab/1.jpg"], "caption": "Laboratory results", "detailed_caption": "Laboratory results showed hematocrit 33.2%, hemoglobin 10.7 g/dl, white-cell count 3100 per mm³ with 79.2% neutrophils and 11.4% lymphocytes, platelet count 345,000 per mm³, sodium 131 mmol/liter, potassium 3.5 mmol/liter, chloride 96 mmol/liter, carbon dioxide 19.8 mmol/liter, total protein 8.4 g/dl, albumin 3.2 g/dl, globulin 5.2 g/dl. Helicobacter pylori immune ratio was 1.56 (positive). HIV-1 and HIV-2 antibodies and p24 antigen were reactive, with positive HIV-1 antibodies confirmed by Western blot analysis.\nLaboratory results on admission showed worsening anemia with hematocrit 26.7%, hemoglobin 8.6 g/dl, white-cell count 4100 per mm³ with 88.8% neutrophils and 5.6% lymphocytes, HIV-1 RNA 172,000 copies per ml, lactate dehydrogenase 283 U/liter, absolute lymphocyte count 190 per mm³, CD4 count 10 per mm³ (5.4% of total lymphocytes), CD8 count 114 per mm³ (59.8% of total lymphocytes), and CD4:CD8 ratio 0.09.", "modalities": ["lab"]}, {"type": "fig", "id": 1, "subfig": "A", "path": ["images/24106939/fig/2.jpg"], "caption": "Frontal chest radiograph of the lungs.", "detailed_caption": "Frontal chest radiograph showed multiple tiny nodules throughout both lungs without focal consolidation, and no evidence of mediastinal or hilar lymphadenopathy.", "modalities": ["x-ray"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/24106939/fig/3.jpg"], "caption": "CT of the chest, axial view.", "detailed_caption": "Axial CT scan of the chest showed numerous nodules, 1 to 3 mm in diameter, randomly distributed in a miliary pattern in both lungs.", "modalities": ["ct"]}, {"type": "fig", "id": 1, "subfig": "C", "path": ["images/24106939/fig/4.jpg"], "caption": "CT, axial view, magnified.", "detailed_caption": "Magnified axial CT image showed the miliary nodules more clearly.", "modalities": ["ct"]}, {"type": "fig", "id": 1, "subfig": "D", "path": ["images/24106939/fig/5.jpg"], "caption": "Contrast-enhanced CT of the abdomen and pelvis, coronal view.", "detailed_caption": "Contrast-enhanced coronal CT scan of the abdomen and pelvis showed multiple enlarged mesenteric lymph nodes with low-attenuation centers suggestive of central necrosis.", "modalities": ["ct"]}], "diagnosis": "Gastrointestinal and disseminated histoplasmosis with acquired immunodeficiency syndrome (AIDS)", "standardized_diagnosis": [{"original_term": "Gastrointestinal histoplasmosis", "corrected_term": null, "code": "1F2A.Z", "title": "Histoplasmosis", "chapter": "Certain infectious or parasitic diseases", "primary": false}, {"original_term": "Disseminated histoplasmosis", "corrected_term": null, "code": "1F2A.Y", "title": "Disseminated classical histoplasmosis", "chapter": "Certain infectious or parasitic diseases", "primary": true}, {"original_term": "Acquired immunodeficiency syndrome", "corrected_term": null, "code": "1C62.3Z", "title": "AIDS - [acquired immunodeficiency syndrome]", "chapter": "Diseases of the immune system", "primary": false}]}, "year": 2013, "classification": "Infectious and immunologic disorders"}
+{"pmid": "23841731", "patient_info": {"basic_info": "An 18-year-old adopted white woman presented at age 15 years with absent breast development, primary amenorrhea, and intermittent lower abdominal pain. At age 17 years 9 months, she measured 162.6 cm in height, weighed 44 kg, and had a body-mass index of 16.6. She had severe facial acne. Her bone age was 11-12 years at chronologic age of 15 years 5 months. She had a normal female karyotype (46,XX). Fasting glucose metabolism showed normal insulin sensitivity with HOMA-IR of 0.8.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/23841731/fig/1.jpg"], "caption": "Clinical examination at 17 years 8 months. Total-body dual-energy x-ray absorptiometry at 17 years 5 months, total body fat 11,834 g, total lean mass 30,459 g.", "detailed_caption": "Shows absence of breast development (Tanner stage 1) and presence of pubic hair (Tanner stage 4) when examined at age 17 years 8 months, with total-body dual-energy x-ray absorptiometry at 17 years 5 months showing total body fat of 11,834 g and total lean mass of 30,459 g.", "modalities": ["clinical", "x-ray"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/23841731/fig/2.jpg"], "caption": "Ultrasonography at age 17 years 9 months of the pelvis. Right ovary: 8.4 × 4.7 × 8.3 cm. Left ovary: 2.9 × 2.7 × 3.1 cm. Uterus present; endometrial stripe not clearly identifiable.", "detailed_caption": "Ultrasonography shows enlarged cystic ovaries, with the right ovary measuring 8.4 by 4.7 by 8.3 cm and the left ovary measuring 2.9 by 2.7 by 3.1 cm at age 17 years 9 months, along with a small uterus with no clearly identifiable endometrial stripe.", "modalities": ["ultrasound"]}, {"type": "fig", "id": 1, "subfig": "C", "path": ["images/23841731/fig/3.jpg"], "caption": "(C) Growth velocity chart, height velocity (cm/year) versus age (2–19 years), based on serial measurements.", "detailed_caption": "C: Panel C of Figure 1 presents a growth velocity chart, displaying the patient's height velocity (in cm/year) plotted against age from 2 to 19 years, based on serial measurements; the data show the absence of the normal steroid-induced growth spurt at the time of puberty.", "modalities": ["clinical"]}, {"type": "fig", "id": 1, "subfig": "D", "path": ["images/23841731/fig/4.jpg"], "caption": "Growth chart for height and weight percentiles by age.", "detailed_caption": "Shows linear percentiles for height and weight, with both measures initially at approximately 75th and 50th percentiles respectively until age 6, then dropping with height consistently below 50th percentile and weight consistently below 25th percentile.", "modalities": ["clinical"]}, {"type": "tab", "id": 1, "subfig": null, "path": ["images/23841731/tab/5.jpg"], "caption": "Laboratory results.", "detailed_caption": "Laboratory values show persistently elevated estradiol levels (750-3500 pg/mL by immunoassay, 2340 pg/mL by LC-MS), elevated estrone (1040 pg/mL), mildly elevated gonadotropins (LH 5.8-13.2 mIU/mL, FSH 6.7-19.1 mIU/mL), elevated inhibin A (184-319 pg/mL), normal AMH (2.8 ng/mL), and normal levels of estrogen-responsive proteins including SHBG, CBG, and TBG.", "modalities": ["lab"]}, {"type": "fig", "id": 2, "subfig": "A", "path": ["images/23841731/fig/6.jpg"], "caption": "Genetic analysis, DNA sequencing electropherogram.", "detailed_caption": "DNA sequencing electropherogram shows the homozygous ESR1 mutation c.1125G→T resulting in p.Gln375His.", "modalities": ["genetic"]}, {"type": "fig", "id": 2, "subfig": "B", "path": ["images/23841731/fig/7.jpg"], "caption": "Genetic analysis: ESR1 gene, amino acid sequence alignment at position Gln375 across 21 species.", "detailed_caption": "B: This panel presents an alignment of the affected Gln375 residue of the ESR1 gene across 21 different species, demonstrating complete conservation of this amino acid position; the analysis confirms that the neutral polar glutamine at position 375 is invariant among humans, several mammals, birds, amphibians, and fish, underscoring its functional importance.", "modalities": ["genetic"]}, {"type": "fig", "id": 2, "subfig": "C", "path": ["images/23841731/fig/8.jpg"], "caption": "Transactivation assay in transfected COS-7 cells, EC50=5 nM for mutated receptor, EC50=20.51 pM for wild-type receptor.", "detailed_caption": "Transactivation assays in transfected COS-7 cells show greatly reduced estrogen receptor activity in the mutated receptor compared to wild-type, with EC50 values of 5 nM for mutated versus 20.51 pM for non-mutated receptor (240-fold difference).", "modalities": []}], "diagnosis": "Delayed puberty and estrogen resistance caused by a homozygous loss-of-function ESR1 mutation", "standardized_diagnosis": [{"original_term": "Delayed puberty", "corrected_term": null, "code": "5A91", "title": "Delayed puberty", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": false}, {"original_term": "Estrogen resistance", "corrected_term": null, "code": "5A90", "title": "Disorder of puberty due to oestrogen resistance", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": true}, {"original_term": "ESR1 mutation", "corrected_term": null, "code": "MA1A.0", "title": "raised ESR - [erythrocyte sedimentation rate]", "chapter": "Symptoms, signs or clinical findings, not elsewhere classified", "primary": false}]}, "year": 2013, "classification": "Endocrine and metabolic disorders"}
+{"pmid": "24255655", "patient_info": {"basic_info": "54-year-old male smoker (60 pack-year history, current smoker) presented with chest pain and ST elevation myocardial infarction. No other medical history. Initial symptoms progressed to ventricular tachycardia. Initial oxygen saturation was 88% on room air. Physical exam showed low-grade fever with mild dyspnea. Lab results showed leukocyte count of 15800/mm3 and serum creatinine of 1.2 mg/dL. Blood and sputum cultures were negative. Gram stain, tuberculosis smear, serologic tests for Legionella and Chlamydia trachomatis were negative. Mycoplasma pneumoniae PCR was negative. Antinuclear antibody, double-stranded DNA antibodies, rheumatoid factor, C3 and C4 were within normal limits. Pulmonary function tests showed mild obstructive impairment with DLCO of 16.1 L (79%). Bronchoalveolar lavage showed cell count of 200 cells/μL with 8% eosinophilia and foamy macrophages. No bacteria or fungi were found in lavage fluid.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/24255655/fig/1.jpg"], "caption": "Chest X-ray.", "detailed_caption": "Initial chest X-ray showed no active lung lesion", "modalities": ["x-ray"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/24255655/fig/2.jpg"], "caption": "Chest X-ray, performed after two days of intravenous amiodarone therapy.", "detailed_caption": "B: The follow-up chest X-ray shows bilateral alveolar and interstitial infiltration, demonstrating new diffuse pulmonary opacities after two days of intravenous amiodarone therapy in a 54-year-old man with recent myocardial infarction.", "modalities": ["x-ray"]}, {"type": "fig", "id": 1, "subfig": "C", "path": ["images/24255655/fig/3.jpg"], "caption": "High-resolution CT scan of the chest.", "detailed_caption": "High resolution CT scan showed bilateral diffuse consolidation, ground glass opacity and underlying emphysema", "modalities": ["ct"]}], "diagnosis": "Amiodarone-induced pulmonary toxicity (APT)", "standardized_diagnosis": [{"original_term": "Amiodarone-induced pulmonary toxicity", "corrected_term": null, "code": "CB40.Y", "title": "disorder of lung", "chapter": "Diseases of the respiratory system", "primary": true}]}, "year": 2013, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "24174966", "patient_info": {"basic_info": "A 57-year-old female without any medical history was admitted for evaluation of a left ventricular tumor that was discovered incidentally. The patient was asymptomatic and had no relevant past medical history. Physical examination findings were not specifically described in the case report.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/24174966/fig/1.jpg"], "caption": "(A) MRI, T1-weighted sequence. (B) MRI, T2-weighted sequence. (C) MRI, phase-sensitive inversion recovery sequence, delayed enhancement. (D) Transthoracic echocardiography, four chamber view.", "detailed_caption": "A: T1 weighted image shows high signal intensity (arrow). B: T2 weighted image shows high signal intensity (arrow). C: delayed enhancement (phase-sensitive inversion recovery MR image) shows stong enhancement with central sparing (arrow). D: transthoracic echocardiographic images: four chamber view shown. It shows round shaped and echogenic mass attached at the left ventricular apex (arrow).", "modalities": ["mri", "ultrasound"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/24174966/fig/2.jpg"], "caption": "Gd-DTPA first pass perfusion MRI, short axis view.", "detailed_caption": "Gd-DTPA first pass perfusion MRI in short axis view. The lesion shows centripetal enhancement pattern (clockwise from top left).", "modalities": ["mri"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/24174966/fig/3.jpg"], "caption": "Gross examination of the heart.", "detailed_caption": "On gross examination, a whitish, solid mass was detached from the base of the anterolateral papillary muscle.", "modalities": ["pathology"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/24174966/fig/4.jpg"], "caption": "(A) Myocardial tissue, H&E staining, 12× magnification. (B) H&E staining, 100× magnification; inset: CD31 immunohistochemical staining, 400�� magnification. (C) Desmin immunohistochemical staining, 100× magnification. (D) Trichrome staining, 100× magnification.", "detailed_caption": "A: on lower power view, the mass is somewhat well demarcated. And the mass seems to be originated from myocardium (arrows) (H-E, ×12). B: high power view shows multiple irregular vascular spaces (arrows) with intervening wavy eosinophilic collagen deposition (H-E, ×100). The vascular spaces express CD31 immunoreactivity (CD31 ×400 inlet). C: desmin immunohistochemical staining reveals that most of stroma do not express desmin except smooth muscles around vessel (arrows) (Desmin ×100). D: most of the stroma shows bluish staining on trichrome (trichrome ×100). Desmin and trichrome staining confirms that most of stroma consists of collagen, not smooth muscle.", "modalities": ["pathology"]}], "diagnosis": "Primary cardiac angiofibroma", "standardized_diagnosis": [{"original_term": "Primary cardiac angiofibroma", "corrected_term": null, "code": "2E81.0Z", "title": "Angiofibroma of unspecified site", "chapter": "Neoplasms", "primary": true}]}, "year": 2013, "classification": "Neoplastic diseases"}
+{"pmid": "24395859", "patient_info": {"basic_info": "A 30-year-old female at 22 weeks gestation with her third child presented in February 2008 with a 10-day history of episodic imbalance with left-sided tonic-clonic activity without loss of consciousness, followed by progressive frontal headache. Initial physical examination was unremarkable, but as evaluation progressed, she developed new weakness of the left arm and leg. Following biopsy at week 24, her neurologic examination demonstrated significant deficits including 1 of 5 strength of the left hip and knee flexors, 2 of 5 of the left lower extremity dorsiflexors and plantar flexors, and 2 of 5 of the left deltoids, rendering her unable to ambulate.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/24395859/fig/1.jpg"], "caption": "MRI of the head, T2-weighted sequence.", "detailed_caption": "Noncontrast MRI of the head demonstrated a large region of T2 hyperintensity in the white matter extending from the anterior right lateral ventricle to the right frontal lobe, and a second region of T2 hyperintensity with mild mass effect extending from the superior-posterior right ventricle to the right frontal lobe", "modalities": ["mri"]}, {"type": "fig", "id": 2, "subfig": "A and B", "path": ["images/24395859/fig/2.jpg"], "caption": "(A) Right frontal lobe biopsy, H&E staining, low to intermediate magnification. (B) Right frontal lobe biopsy, H&E staining, higher magnification.", "detailed_caption": "A: Figure 2 (A) on page 2 shows a hematoxylin and eosin (H&E)-stained histopathological section of the right frontal lobe biopsy, demonstrating a dense infiltrate of atypical lymphoid cells consistent with diffuse large B-cell lymphoma at low to intermediate magnification. B: Figure 2 (B) presents an H&E-stained section from the same biopsy at higher magnification, highlighting the large, atypical lymphoid cells with prominent nucleoli characteristic of diffuse large B-cell lymphoma.", "modalities": ["pathology"]}], "diagnosis": "Primary CNS lymphoma (diffuse large B-cell lymphoma)", "standardized_diagnosis": [{"original_term": "Primary CNS lymphoma", "corrected_term": null, "code": "2B33.5", "title": "Lymphoma NOS", "chapter": "Neoplasms", "primary": true}, {"original_term": "Diffuse large B-cell lymphoma", "corrected_term": null, "code": "2A81.Z", "title": "Diffuse large B-cell lymphomas", "chapter": "Neoplasms", "primary": false}]}, "year": 2014, "classification": "Neoplastic diseases"}
+{"pmid": "24284338", "patient_info": {"basic_info": "32-year-old woman admitted to emergency department with somnolence, presumably after attempted suicide. History of dissociative and depressive disorders treated as outpatient at psychiatric facility. Multiple psychiatric medications prescribed including tranylcypromine, quetiapine, temazepam, clonazepam, cyproheptadine, melatonin, oxazepam, levomepromazine, and pipamperone. On initial assessment: Glasgow Coma Scale 11/15, hemodynamically stable (BP 140/85 mmHg, regular heart rate 90/min), temperature 37.3°C, oxygen saturation normal with respiratory rate 16/min. Physical exam showed somnolence but no other abnormalities.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/24284338/tab/1.jpg"], "caption": "Laboratory results at admission.", "detailed_caption": "Laboratory findings at admission showed: pH 7.22, PaCO2 22 mmHg, PaO2 133 mmHg, bicarbonate 9.1 mmol/L, sodium 142 mmol/L, potassium 3.8 mmol/L, calcium 2.15 mmol/L, chloride 110 mmol/L, creatinine 100 μmol/L, BUN 5.2 mmol/L, glucose 6.8 mmol/L, lactate 25.9 mmol/L, plasma osmolality 380 mmol/kg, hemoglobin 7.4 mmol/L, WBC 5.2×109/L, platelets 240×109/L", "modalities": ["lab"]}, {"type": "tab", "id": 2, "subfig": null, "path": ["images/24284338/tab/2.jpg"], "caption": "Laboratory results.", "detailed_caption": "Calculated values showed: anion gap 23 mmol/L (elevated), osmolality gap 84 mmol/kg (markedly elevated)", "modalities": ["lab"]}], "diagnosis": "Ethylene glycol poisoning with level of 5.3 g/L", "standardized_diagnosis": [{"original_term": "Ethylene glycol poisoning", "corrected_term": null, "code": "NE6Z", "title": "poisoning NOS", "chapter": "Injury, poisoning or certain other consequences of external causes", "primary": true}]}, "year": 2013, "classification": "Endocrine and metabolic disorders"}
+{"pmid": "24088096", "patient_info": {"basic_info": "A 19-year-old woman presented with a 4-day history of right upper quadrant and epigastric abdominal pain that was intermittent and variable in intensity, associated with nausea, and radiating occasionally to her back. She reported profound fatigue and a significant 13.6-kg (30-lb) weight loss over the preceding months, which she attributed to stress from her parents' recent divorce. She had a history of hereditary spherocytosis and had undergone laparoscopic splenectomy and cholecystectomy 10 years earlier for chronic hemolytic anemia with symptomatic gallstones. Her medications included folic acid and an oral contraceptive, and she smoked one pack of cigarettes per day. On initial examination, she was afebrile with focal right-upper-quadrant abdominal tenderness without Murphy's sign. Initial laboratory studies showed elevated alanine aminotransferase (275 U/L) and aspartate aminotransferase (275 U/L), while alkaline phosphatase, total bilirubin, albumin, amylase, and iron levels were normal. Serologic tests for hepatitis A, B, and C were negative, and serum alpha-fetoprotein and human chorionic gonadotropin levels were normal. Upon re-evaluation at the university hospital, she had developed a low-grade fever (38.0°C), sore throat, and generalized lymphadenopathy involving cervical, supraclavicular, and inguinal regions with nodes up to 2 cm in diameter. Laboratory studies revealed a white cell count of 11,500/mm³ with 28% atypical lymphocytes, elevated lactate dehydrogenase (428 U/L), hyperuricemia (8.1 mg/dL), and reactive thrombocytosis (553,000/mm³).", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/24088096/fig/1.jpg"], "caption": "Abdominal MRI of the liver, T1-weighted and T2-weighted sequences, segment VI, mass diameter 4.5 cm.", "detailed_caption": "Abdominal MRI scan shows an exophytic mass within segment VI of the liver, measuring 4.5 cm in diameter, characterized by hypointensity on T1-weighted images and isointensity to slight hyperintensity on T2-weighted images, with no fat content, no arterial phase enhancement, and no delayed uptake of gadoxetate disodium.", "modalities": ["mri"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/24088096/fig/2.jpg"], "caption": "(A) Peripheral blood smear, low magnification. (B) Peripheral blood smear, high magnification. (C) Peripheral blood smear, high magnification.", "detailed_caption": "Several large atypical lymphocytes are evident in a background of spherocytes lacking central pallor (Panel A, low magnification; Panel B, high magnification), in addition to scattered Howell–Jolly bodies (Panel C, high magnification).", "modalities": ["pathology"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/24088096/fig/3.jpg"], "caption": "18F-FDG-PET-CT scan of lymph nodes in cervical, axillary, hilar, mediastinal, periportal, peripancreatic, mesenteric, and retroperitoneal regions.", "detailed_caption": "18F-FDG-PET-CT scan demonstrates intense 18F-FDG uptake in multiple lymph nodes including bilateral cervical and left axillary regions, with additional uptake in hilar, mediastinal, periportal, peripancreatic, mesenteric, and retroperitoneal lymph nodes, while the hepatic mass was not hypermetabolic.", "modalities": ["pet/spect/nuclear", "ct"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/24088096/fig/4.jpg"], "caption": "(A) Lymph node specimen, H&E staining. (B) Lymph node specimen, CD20 immunostaining. (C) Lymph node specimen, in situ hybridization for EBV-encoded small RNA.", "detailed_caption": "The specimen shows reactive lymphoid hyperplasia with reactive follicles (Panel A, hematoxylin and eosin). Paracortical expansion by small lymphocytes and scattered large immunoblasts were also observed (not shown). CD20 immuno-staining highlights intact B-cell follicles (Panel B). In situ hybridization for Epstein–Barr virus (EBV)–encoded small RNA shows scattered EBV-positive cells (Panel C, darkly stained cells), a finding consistent with EBV infection.", "modalities": ["pathology"]}, {"type": "fig", "id": 5, "subfig": null, "path": ["images/24088096/fig/5.jpg"], "caption": "(A) Planar scintigraphy of the abdomen, anterior view, performed 2 hours after intravenous administration of 99mTc-labeled, heat-denatured red cells. (B) Planar scintigraphy of the abdomen, posterior view, performed 2 hours after intravenous administration of 99mTc-labeled, heat-denatured red cells.", "detailed_caption": "Anterior (Panel A) and posterior (Panel B) planar images of the abdomen, obtained 2 hours after intravenous ad- ministration of 99mTc-labeled, heat-denatured red cells, show focal uptake of red cells in the inferior right (RT) hepatic lobe, corresponding to the mass seen on MRI scanning, and in the left (LT) side of the upper abdomen, interpreted as indicating the presence of a splenule. Diffuse, mild hepatic red-cell uptake is also evident.", "modalities": ["pet/spect/nuclear"]}, {"type": "fig", "id": 6, "subfig": null, "path": ["images/24088096/fig/6.jpg"], "caption": "Excisional Biopsy Specimen of a Left Axillary Lymph Node.(A) Hematoxylin and eosin staining, microscopy. (B, C) Electron microscopy.", "detailed_caption": "Panel A (hematoxylin and eosin) shows pleomorphic cells that are small to intermediate in size with round to slightly irregular nuclei, condensed chromatin, indistinct nuclei, and a moderate amount of cytoplasm. There are intermittent fibrous bands and numerous interwoven small vessels and capillaries, with no hepatic tissue or metastatic tumor evident. On staining with CD45, CD20, myeloperoxidase, and glycophorin A, the majority of cells were of hematopoietic origin (not shown); in situ hybridization for EBV-encoded early RNA showed strong, diffuse positivity\n(not shown). The electron micrographs in Panels B and C show reticulocytes (green), red cells (red), myeloid cells (blue), lymphocytes (black), and nucleated red cells (purple).", "modalities": ["pathology"]}], "diagnosis": "Infectious mononucleosis due to Epstein-Barr virus infection with concurrent intrahepatic splenosis and residual splenule following previous splenectomy", "standardized_diagnosis": [{"original_term": "Infectious mononucleosis", "corrected_term": null, "code": "1D81.Z", "title": "Infectious mononucleosis", "chapter": "Diseases of the immune system", "primary": true}, {"original_term": "Epstein-Barr virus infection", "corrected_term": null, "code": "1D81.0", "title": "Epstein-Barr virus infection NOS", "chapter": "Diseases of the immune system", "primary": false}, {"original_term": "Intrahepatic splenosis", "corrected_term": null, "code": "3B81.4", "title": "Splenosis", "chapter": "Diseases of the blood or blood-forming organs", "primary": false}, {"original_term": "Residual splenule", "corrected_term": null, "code": "MF50.6Y", "title": "Residual urine", "chapter": "Symptoms, signs or clinical findings, not elsewhere classified", "primary": false}, {"original_term": "Status post splenectomy", "corrected_term": null, "code": "CA23.31", "title": "status post asthmaticus", "chapter": "Diseases of the respiratory system", "primary": false}]}, "year": 2013, "classification": "Infectious and immunologic disorders"}
+{"pmid": "24346992", "patient_info": {"basic_info": "20-year-old previously healthy man presented with a mildly pruritic, progressive rash. The eruption began in his scalp and spread over 9 days to neck, back, and chest. No improvement with oral cephalexin prescribed in ED. Denies any medication use (prescription, OTC, herbal, vitamins) prior to onset. No travel or illicit drug use history. No fever, chills, or systemic symptoms. Appropriate immunizations, no relevant family history, never experienced similar episodes. Patient was afebrile and appeared well.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/24346992/fig/1.jpg"], "caption": "(A) Clinical photograph of the trunk and extremities, dermatologic examination at presentation.", "detailed_caption": "A: Figure 1 (A) is a clinical photograph depicting grouped vesicles and tense bullae in a generalized distribution on the trunk and extremities of the patient, demonstrating a symmetric annular vesiculobullous eruption primarily affecting the torso, consistent with a dermatologic examination at presentation.", "modalities": ["clinical"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/24346992/fig/2.jpg"], "caption": "Clinical photograph of the trunk.", "detailed_caption": "B: Closer view clinical photograph of the trunk showing vesicles and tense bullae arranged in an annular configuration with central erythema and scale, demonstrating the cutaneous lesions characteristic of this patient's progressive eruption.", "modalities": ["clinical"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/24346992/fig/3.jpg"], "caption": "Direct immunofluorescence of skin, 40× magnification.", "detailed_caption": "Direct immunofluorescence showing linear IgA deposits along the basement membrane zone of the skin (40x magnification)", "modalities": ["pathology"]}], "diagnosis": "Linear IgA bullous dermatosis (LABD)", "standardized_diagnosis": [{"original_term": "Linear IgA bullous dermatosis", "corrected_term": null, "code": "EB42", "title": "Linear IgA bullous dermatosis", "chapter": "Diseases of the skin", "primary": true}]}, "year": 2013, "classification": "Dermatologic and mucosal diseases"}
+{"pmid": "24395853", "patient_info": {"basic_info": "A 35-year-old woman presented to the emergency room with a clinically incarcerated umbilical hernia. Fourteen days after the initial hernia repair surgery, she developed strong pain in the right lower abdomen and complained of umbilical secretion. Physical examination revealed the patient was afebrile. Blood analysis showed a slight elevation in leukocyte count at 11.05 × 10^9/L, while other parameters were unexceptional. Ultrasound of the abdominal wall detected a semisolid infraumbilical mass with a diameter of 5.5 cm. Initial histologic examination of the resected omental fat from the hernia repair revealed malignant cells with neuroendocrine differentiation. Immunohistochemical analysis was positive for synaptophysin and protein gene product 9.5. Fluorescent in situ hybridization revealed a rearrangement of the EWSR1 gene.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/24395853/fig/1.jpg"], "caption": "CT scan, infraumbilical region.", "detailed_caption": "CT scan shows an infraumbilical mass (indicated by red circle) that was initially considered as a possible hematoma due to the postoperative chronology", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": "A", "path": ["images/24395853/fig/2.jpg"], "caption": "an infraumbilical mass was sected by an open procedure. Immunohistochemical staining for CD99.", "detailed_caption": "Immunohistochemical staining shows positivity for CD99", "modalities": ["pathology"]}, {"type": "fig", "id": 2, "subfig": "B", "path": ["images/24395853/fig/3.jpg"], "caption": "an infraumbilical mass was sected by an open procedure.Immunohistochemical staining for neuron-specific enolase.", "detailed_caption": "Immunohistochemical staining shows positivity for neuron-specific enolase", "modalities": ["pathology"]}, {"type": "fig", "id": 2, "subfig": "C", "path": ["images/24395853/fig/4.jpg"], "caption": "an infraumbilical mass was sected by an open procedure. Histologic examination, MIB1 staining, proliferation fraction=60%.", "detailed_caption": "Histologic appearance shows malignant, small, round, blue-cell tumor of the Ewing type with high proliferation fraction (MIB1) of 60%", "modalities": ["pathology"]}], "diagnosis": "Primitive neuroectodermal tumor (PNET)", "standardized_diagnosis": [{"original_term": "Primitive neuroectodermal tumor", "corrected_term": null, "code": "2A00.11", "title": "Central primitive neuroectodermal tumour", "chapter": "Neoplasms", "primary": true}]}, "year": 2014, "classification": "Neoplastic diseases"}
+{"pmid": "24395843", "patient_info": {"basic_info": "An 80-year-old male smoker was referred with a 1.5-month history of chest pain and breathlessness, diagnosed with right-sided pleural effusion and left lower lobe mass. He had an Eastern Cooperative Oncology Group performance status of 2. On physical examination, he had right supraclavicular lymphadenopathy and decreased breath sounds on the right side of the chest. Fine needle aspiration cytology of the lung lesion was consistent with adenocarcinoma, while FNAC from the supraclavicular lymph node revealed necrotizing granulomatous lymphadenitis suggestive of tuberculosis. AFB stain was negative, and AFB culture or DNA tests were not performed on the FNAC specimen. Pleural fluid analysis showed straw-colored fluid with glucose of 106 mg/dL, protein 5.4 g/dL, LDH 279 U/L, and adenosine deaminase of 98.16 U/L (range for tubercular pleurisy being >40 U/L). The fluid was cytologically negative for malignancy and showed many lymphocytes, making it a lymphocyte-rich effusion.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A, C, E", "path": ["images/24395843/fig/1.jpg"], "caption": "PET scan, lower lobe of left lung mass, size 2.8 × 3.0 cm, SUV=7.15; right pleural deposits, SUV=12.8; cervical lymph nodes, SUV=5.03; bilateral supraclavicular lymph nodes, SUV=7.9; bilateral axillary lymph nodes, SUV=13.9; mediastinal lymph nodes, SUV=14.2; periportal lymph nodes, SUV=13.4; bilateral external iliac lymph nodes, SUV=3.7; right inguinal lymph nodes, SUV=12.9; peritoneal deposits, SUV=18.6; multiple hypermetabolic skeletal lesions; right loculated pleural effusion.", "detailed_caption": "PET scan revealed a spiculated 2.8 × 3.0 cm mass with standardized uptake value (SUV) of 7.15 in the lower lobe of left lung, right loculated pleural effusion, multiple right pleural deposits (SUV, 12.8) and multiple lymph nodes in cervical (SUV, 5.03), bilateral supraclavicular (SUV, 7.9), bilateral axillary (SUV, 13.9), mediastinal (SUV, 14.2), periportal (SUV, 13.4), bilateral external iliac (SUV, 3.7) and right inguinal (SUV, 12.9) areas. There were also multiple discrete peritoneal deposits (SUV, 18.6) and multiple hypermetabolic skeletal lesions.", "modalities": ["pet/spect/nuclear"]}], "diagnosis": "Adenocarcinoma of the lung with concurrent tuberculosis", "standardized_diagnosis": [{"original_term": "Adenocarcinoma of the lung", "corrected_term": null, "code": "2C25.0", "title": "lung adenocarcinoma", "chapter": "Diseases of the respiratory system", "primary": true}, {"original_term": "Tuberculosis", "corrected_term": null, "code": "1B1Z", "title": "Tuberculosis, unspecified", "chapter": "Certain infectious or parasitic diseases", "primary": false}]}, "year": 2014, "classification": "Neoplastic diseases"}
+{"pmid": "24449239", "patient_info": {"basic_info": "An 82-year-old woman presented with a skin change on her chest wall, specifically about 2 weeks of pain associated with a small lump located on the right anterior chest on the lower aspect of her rib cage, 2 cm below her breast. Her medical history was significant for resected left cheek malignant melanoma at age 56 and left breast cancer at age 62 treated with modified radical mastectomy. The previous breast cancer pathology revealed grade 4 infiltrating ductal adenocarcinoma measuring 1.0 × 1.0 × 0.8 cm, positive for both progesterone and estrogen receptors, with all 13 removed lymph nodes being negative. On physical examination, a 6 to 7 mm slightly mobile lesion was noted, initially appearing most consistent with a sebaceous cyst, fibroma, or lipoma. The patient also recalled that approximately 60 years previously, she had a small skin lesion in that same area that was excised after it lactated while she was breastfeeding.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/24449239/fig/1.jpg"], "caption": "Histopathological section of ectopic breast tissue from the right anterior chest wall, H&E staining.", "detailed_caption": "Figure 1 presents a histopathological section of the resected chest wall lesion stained with hematoxylin and eosin (H&E), demonstrating infiltrating ductal carcinoma with associated high-grade ductal carcinoma in situ; the anatomical site examined is ectopic breast tissue from the right anterior chest wall, though no specific magnification or field orientation is provided.", "modalities": ["pathology"]}], "diagnosis": "Second primary infiltrating ductal carcinoma in an extra mammary breast tissue (ectopic milk line breast cancer)", "standardized_diagnosis": [{"original_term": "Infiltrating ductal carcinoma", "corrected_term": null, "code": "2C61.0", "title": "Infiltrating ductal carcinoma of breast", "chapter": "Neoplasms", "primary": false}, {"original_term": "Ectopic breast cancer", "corrected_term": null, "code": "2C6Z", "title": "breast cancer", "chapter": "Neoplasms", "primary": true}]}, "year": 2014, "classification": "Neoplastic diseases"}
+{"pmid": "24395855", "patient_info": {"basic_info": "A 42-year-old white man was diagnosed with multiple myeloma (IIIA immunoglobulin G [IgG], International Staging System II) in June 2009. At diagnosis, his hemoglobin was 8.2 g/dL, protein electrophoresis showed monoclonal gamma globulin spike (4.46 g/dL), the IgG was 6,350 mg/dL, the bone marrow contained 32% abnormal plasmocytes, the serum albumin was 2.7 g/dL, and the results of blood and urine immunoelectrophoresis were compatible with monoclonal IgG-kappa gammopathy. There were no severe osteolytic lesions. Following chemotherapy and being prepared for autologous hematopoietic stem-cell transplantation, he was given cyclophosphamide 3 g/m² and G-CSF 10 μg/kg per day starting on day 9 when the WBC count was 0.8 × 10⁹/L. His WBC was 3.9 × 10¹⁰/L on day 16. After the second peripheral blood stem cell harvest on day 16, he developed fever (38.7°C). The patient complained of a severe stinging sensation.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/24395855/fig/1.jpg"], "caption": "Clinical photograph of the anterior trunk and upper and lower extremities, taken after the onset of symptoms.", "detailed_caption": "Figure 1 on page 1 is a clinical photograph showing the anterior aspect of a male patient's upper and lower extremities and trunk, depicting extensive erythematous nodular and plaque-like skin lesions distributed over the arms, chest, abdomen, and legs; the image was taken after the onset of symptoms, which began following peripheral blood stem cell harvesting and discontinuation of granulocyte colony-stimulating factor in a patient with multiple myeloma.", "modalities": ["clinical"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/24395855/fig/2.jpg"], "caption": "Clinical photograph of the torso, upper arm, shoulder, and upper chest.", "detailed_caption": "Figure 2 is a clinical photograph showing the patient’s torso, illustrating extensive erythematous cutaneous lesions in the form of nodules and plaques on the upper arm, shoulder, and upper chest, acquired following peripheral blood stem cell harvesting and onset after granulocyte colony-stimulating factor administration.", "modalities": ["clinical"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/24395855/fig/3.jpg"], "caption": "Clinical photograph of the lower limbs taken after stem cell harvesting.", "detailed_caption": "Figure 3 is a clinical photograph taken after stem cell harvesting, depicting extensive erythematous cutaneous lesions in the form of nodules and plaques involving the patient's lower limbs, illustrating the severe, widespread skin involvement characteristic of acute neutrophilic dermatosis (Sweet’s syndrome) following granulocyte colony-stimulating factor administration.", "modalities": ["clinical"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/24395855/fig/4.jpg"], "caption": "Skin biopsy of the arm, histological examination.", "detailed_caption": "Histological examination of arm skin biopsy showing edema and a predominantly inflammatory neutrophilic infiltrate of the upper half of the dermis, with tumescent endothelium but not characteristic of leukocytosis or vasculitis, and epidermis exhibiting areas of hydropic degeneration of basal keratinocytes with patches of spongiosis permeated with neutrophils, features characteristic of neutrophilic dermatitis consistent with Sweet's syndrome", "modalities": ["pathology"]}], "diagnosis": "Severe, extensive, granulocyte colony-stimulating factor-induced, corticosteroid-resistant Sweet's syndrome", "standardized_diagnosis": [{"original_term": "Sweet's syndrome", "corrected_term": null, "code": "EB20", "title": "Sweet syndrome", "chapter": "Diseases of the skin", "primary": true}]}, "year": 2014, "classification": "Neoplastic diseases"}
+{"pmid": "24404401", "patient_info": {"basic_info": "A 37-year-old male presented to the emergency department with dyspnea that had begun one week prior, initially characterized by fever and chills, followed by progressive respiratory difficulty. He appeared acutely ill with crackling sounds on chest examination, regular heartbeat without murmur, and purplish discoloration of the right ankle without local heat or tenderness. Initial vital signs showed blood pressure of 163/91 mmHg, pulse rate of 114 beats/min, respiratory rate of 24 breaths/min, and body temperature of 38°C. Oxygen saturation was initially 87% and increased to 95% with nasal cannula oxygen at 5 L/min. Laboratory tests revealed profound peripheral eosinophilia and thrombocytopenia with white blood cell count of 22,580/μL (50% neutrophils, 31% eosinophils, 10% lymphocytes), hemoglobin of 13.7 g/dL, and platelet count of 26,000/μL. Additional laboratory findings showed prothrombin time of 15 seconds, activated partial thromboplastin time of 35.4 seconds, normal fibrinogen levels, and markedly elevated D-dimer at 26.69 μg/mL. Serum total IgE and ECP levels were elevated at 939.4 IU/mL and 201.0 ng/mL respectively. Tests for anti-nuclear antibodies, anti-neutrophil cytoplasmic antibodies, and parasites in stool and serum were negative. Bone marrow biopsy showed normal cellularity with increased eosinophils, and FIP1L1-PDGFRA gene fusion was not detected. The patient became progressively tachypneic requiring mechanical ventilation due to ARDS, with PaO2 levels remaining low at 49.9 mmHg despite supplementation.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/24404401/fig/1.jpg"], "caption": "Chest radiograph.", "detailed_caption": "Initial chest radiograph shows patchy areas of consolidation with ground-glass opacity in both lower lung zones.", "modalities": ["x-ray"]}, {"type": "fig", "id": 2, "subfig": "A", "path": ["images/24404401/fig/2.jpg"], "caption": "Skin biopsy of the right ankle.", "detailed_caption": "Skin biopsy of the purpuric lesions of the right ankle shows diffuse eosinophilic perivascular infiltration in the dermis.", "modalities": ["pathology"]}, {"type": "fig", "id": 2, "subfig": "B", "path": ["images/24404401/fig/3.jpg"], "caption": "Skin biopsy of the right ankle, H&E staining, 40× magnification.", "detailed_caption": "B: Skin biopsy of the purpuric lesion on the right ankle shows an eosinophilic abscess in the subcutaneous fat, demonstrated using hematoxylin and eosin (H&E) staining at 40× magnification.", "modalities": ["pathology"]}], "diagnosis": "Idiopathic hypereosinophilic syndrome (IHES) based on the presence of peripheral and tissue eosinophilia, along with the exclusion of other causes of eosinophilia", "standardized_diagnosis": [{"original_term": "Idiopathic hypereosinophilic syndrome", "corrected_term": null, "code": "4B03.Z", "title": "Idiopathic hypereosinophilic syndrome", "chapter": "Diseases of the immune system", "primary": true}]}, "year": 2014, "classification": "Infectious and immunologic disorders"}
+{"pmid": "24195552", "patient_info": {"basic_info": "A 67-year-old man presented to the emergency department with chest pain. He felt well until 10 days prior when nausea, nonbloody emesis, bloating, and epigastric pain developed, initially treated as gastroesophageal reflux with omeprazole without relief. On the day of presentation, substernal, nonradiating chest heaviness developed on exertion and progressed to rest pain accompanied by diaphoresis and dyspnea, rated 8/10 in severity. Medical history included mild asthma and hemicolectomy for dysplastic polyps with ventral abdominal hernia. Current medications included omeprazole, inhaled glucocorticoids, bronchodilators, montelukast, and zolpidem. He had a remote 20 pack-year smoking history. Physical examination revealed tachycardia (125 bpm), hypotension (84/62 mmHg), tachypnea (22 breaths/min), oxygen saturation 94% on 6L oxygen, BMI 30, uncomfortable appearance with pallor, diaphoresis, and accessory muscle use. Jugular venous pressure was 18 cm H2O, cardiac exam showed regular tachycardia with grade 2/6 holosystolic apical murmur, lung exam revealed rales at left base, abdomen was soft with palpable liver edge 4 cm below costal margin, and extremities were cool and clammy with thready pulses.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/24195552/fig/1.jpg"], "caption": "12-lead electrocardiogram.", "detailed_caption": "12-lead electrocardiogram showed sinus tachycardia, low limb-lead voltage, left atrial enlargement, septal Q waves, poor R-wave progression, and diffuse T-wave flattening", "modalities": ["electrophysiology"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/24195552/fig/2.jpg"], "caption": "(A) Chest X-ray, posteroanterior view. (B) Chest X-ray, lateral view.", "detailed_caption": "A posteroanterior view of the chest (Panel A) reveals an enlarged cardiac silhouette, small pleural effusions in both lungs, and evidence of mild­to­moderate pulmonary edema. A lateral view (Panel B) shows small pleural effusions.", "modalities": ["x-ray"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/24195552/fig/3.jpg"], "caption": "(A) Cardiac tissue biopsy, hematoxylin and eosin staining, low magnification. (B) Cardiac tissue biopsy, hematoxylin and eosin staining, high magnification.", "detailed_caption": "A photomicrograph at low magnification (Panel A, hematoxylin and eosin) shows a patchy, dense inflammatory infiltrate with destruction of cardiac myocytes. All four of the biopsy specimens obtained revealed this pattern of injury. Occasional giant cells can be identified within the infiltrate even at low power (arrows). A photomicrograph at high­power magnification (Panel B, hematoxylin and eosin) reveals an infiltrate consisting of a mixed population of lymphocytes, macrophages, eosinophils, and prominent multinucleated giant cells (black arrows). Ongoing myocyte necrosis (yellow arrows) is associated with the infiltrate.", "modalities": ["pathology"]}], "diagnosis": "Giant-cell myocarditis", "standardized_diagnosis": [{"original_term": "Giant-cell myocarditis", "corrected_term": null, "code": "BC42.0", "title": "Giant cell myocarditis", "chapter": "Diseases of the circulatory system", "primary": true}]}, "year": 2013, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "24428472", "patient_info": {"basic_info": "A 44-year-old man presented with a 6-month history of a lesion on the penis that began as a small, dark area following a sports-related groin injury while visiting another country. Initially diagnosed as a hematoma, the lesion persisted and developed into a small, firm nodule after 2 months, which enlarged over the next 2.5 months with eventual ulceration of the overlying skin. He noted a lump in the right inguinal region one week before seeking evaluation. He was born in a Caribbean country, immigrated to the United States 20 years earlier, was married with children, currently unemployed, and had no history of sexually transmitted diseases. His mother died of lung cancer. Physical examination revealed blood pressure of 155/83 mmHg, pulse 131 beats per minute, with normal temperature, respiratory rate, and oxygen saturation. A firm, erythematous nodule (4 mm diameter) was present on the right scrotum, and an erythematous, nontender, nonmobile mass (approximately 1 cm diameter) was evident in the right inguinal region. Routine laboratory tests were normal. Cultures of the penile lesion grew moderate amounts of Pseudomonas aeruginosa and Proteus mirabilis and a few colonies of enterococcus, while urine culture grew pseudomonas and blood culture was sterile.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/24428472/fig/1.jpg"], "caption": "CT of the pelvis, axial view, contrast-enhanced.", "detailed_caption": "Axial contrast-enhanced CT of the pelvis shows a superficial necrotic penile mass measuring 5.6 cm by 1.0 cm on the right side, suspicious for squamous-cell carcinoma with possible invasion of the corpora cavernosa and corpus spongiosum.", "modalities": ["ct"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/24428472/fig/2.jpg"], "caption": "CT, axial view, inguinal and pelvic regions.", "detailed_caption": "Axial CT at a higher level shows necrotic right inguinal lymphadenopathy and an enlarged right external iliac lymph node.", "modalities": ["ct"]}, {"type": "fig", "id": 1, "subfig": "C", "path": ["images/24428472/fig/3.jpg"], "caption": "MRI of the pelvis, axial view, T1-weighted gadolinium-enhanced and T2-weighted sequences.", "detailed_caption": "Axial T1-weighted gadolinium-enhanced MRI of the pelvis shows signal abnormality on T2-weighted images with enhancement surrounding the penile shaft, thickening of the overlying skin, and nonenhancing, hypointense material surrounding the penile shaft without discrete signal abnormality within the shaft, with foreshortening of the shaft and the glans not visible.", "modalities": ["mri"]}, {"type": "fig", "id": 1, "subfig": "D", "path": ["images/24428472/fig/4.jpg"], "caption": "Axial T1-weighted MRI of the right inguinal region.", "detailed_caption": "Axial T1-weighted MRI at a higher level shows two peripherally enhancing lymph nodes measuring 2.8 cm by 2.8 cm and 1.4 cm by 1.2 cm in the right inguinal region, with stranding of the adjacent fat associated with the dominant node.", "modalities": ["mri"]}, {"type": "fig", "id": 2, "subfig": "A", "path": ["images/24428472/fig/5.jpg"], "caption": "Fine-needle aspiration biopsy of the right inguinal mass.", "detailed_caption": "Fine-needle aspiration biopsy of the right inguinal mass reveals clusters of keratinized squamous epithelial cells with cytologic features consistent with metastatic squamous-cell carcinoma.", "modalities": ["pathology"]}], "diagnosis": "Squamous-cell carcinoma of the penis, moderately to poorly differentiated, involving the glans and distal shaft, invading the corpora cavernosa and corpus spongiosum, and metastatic to inguinal lymph nodes (pathologic stage, pT2N2MX)", "standardized_diagnosis": [{"original_term": "Squamous-cell carcinoma of the penis", "corrected_term": null, "code": "2C81.0", "title": "Squamous cell carcinoma of penis", "chapter": "Neoplasms", "primary": true}, {"original_term": "Metastatic carcinoma of inguinal lymph nodes", "corrected_term": null, "code": "MA01.0", "title": "Inguinal lymph node enlargement", "chapter": "Symptoms, signs or clinical findings, not elsewhere classified", "primary": false}]}, "year": 2014, "classification": "Neoplastic diseases"}
+{"pmid": "24449236", "patient_info": {"basic_info": "30-year-old man with history of right radical nephrectomy 5 years prior for a 9.5-cm kidney mass. No family history of tuberous sclerosis. Patient was lost to follow-up in May 2009 but returned in June 2011 with newly found lung nodules.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/24449236/fig/1.jpg"], "caption": "Kidney biopsy, H&E staining, 400× magnification.", "detailed_caption": "Nephrectomy biopsy showed sheets of large, oval tumor cells with high degree of nuclear pleomorphism and macronucleoli (H&E stain, x400)", "modalities": ["pathology"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/24449236/fig/2.jpg"], "caption": "Immunohistochemistry using HMB-45, 200× magnification.", "detailed_caption": "Neoplastic cells showed diffuse and strong HMB-45 immunoreactivity (x200)", "modalities": ["pathology"]}, {"type": "fig", "id": 2, "subfig": "A", "path": ["images/24449236/fig/3.jpg"], "caption": "CT scan of the lungs.", "detailed_caption": "CT scan showed two lung nodules in left upper lobe (3.5-cm LUL lingular nodule; 1.9-cm LUL apicoposterior nodule) and one subpleural nodule in right lower lobe (<0.5 cm)", "modalities": ["ct"]}, {"type": "fig", "id": 1, "subfig": "C,D", "path": ["images/24449236/fig/4.jpg"], "caption": "(C) Percutaneous needle biopsy of left upper lobe lingular nodule, H&E staining, 400× magnification. (D) Percutaneous needle biopsy of left upper lobe lingular nodule, HMB-45 staining, 400× magnification.", "detailed_caption": "Percutaneous needle biopsy of left upper lobe lingular nodule showed epithelioid angiomyolipoma with strong HMB-45 expression. (C: H&E, 400 magnification; D: HMB-45, 400 magnification)", "modalities": ["pathology"]}], "diagnosis": "Metastatic epithelioid angiomyolipoma (E-AML) of the kidney with lung metastases", "standardized_diagnosis": [{"original_term": "Epithelioid angiomyolipoma of kidney", "corrected_term": null, "code": "2E8A", "title": "Angiomyolipoma of kidney", "chapter": "Neoplasms", "primary": true}, {"original_term": "Lung metastases", "corrected_term": null, "code": "2D70", "title": "metastasis in lung", "chapter": "Neoplasms", "primary": false}]}, "year": 2014, "classification": "Neoplastic diseases"}
+{"pmid": "24449320", "patient_info": {"basic_info": "52-year-old woman with exertional right buttock and thigh pain that resolves within 2 minutes of rest. Exercise tolerance worsened over past year, now limited to several blocks. Previously able to run 5-6 miles per day. Recently diagnosed hypertension controlled with lisinopril (5 mg daily). No other cardiovascular risk factors. Physical exam shows blood pressure 124/76 mm Hg bilaterally, high-pitched systolic bruit over right subcostal region and umbilicus, normal peripheral pulses. Ankle brachial index (ABI) at rest borderline normal (0.91) on right and normal (1.03) on left. Remainder of examination normal.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/24449320/fig/1.jpg"], "caption": "Selective renal arteriogram of the right renal artery.", "detailed_caption": "Selective renal arteriogram shows 'beaded appearance' in the right renal artery", "modalities": ["angiography"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/24449320/fig/2.jpg"], "caption": "Catheter-based angiogram of the right external iliac artery.", "detailed_caption": "Catheter-based angiogram shows long-segment stenosis of the right external iliac artery without atherosclerosis", "modalities": ["angiography"]}], "diagnosis": "Fibromuscular dysplasia (FMD) of the right renal artery and dissection of the right external iliac artery", "standardized_diagnosis": [{"original_term": "Fibromuscular dysplasia", "corrected_term": null, "code": "BD41.0", "title": "fibromuscular dysplasia", "chapter": "Diseases of the circulatory system", "primary": false}, {"original_term": "Renal artery fibromuscular dysplasia", "corrected_term": null, "code": "BD41.0&XA69V9", "title": "Renal artery fibromuscular dysplasia", "chapter": "Diseases of the circulatory system", "primary": true}, {"original_term": "External iliac artery dissection", "corrected_term": null, "code": "BD51.5&XA53T4", "title": "Aneurysm or dissection of iliac artery[External iliac artery]", "chapter": "Diseases of the circulatory system", "primary": false}]}, "year": 2014, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "24419134", "patient_info": {"basic_info": "57-year-old white male with history of AML in remission after allogeneic stem-cell transplantation from HLA-identical sister. Three years post-transplant, developed worsening sore throat over several months with associated progressive shortness of breath. Went into acute respiratory distress one morning after showering, requiring hospitalization and tracheotomy. Examination under anesthesia revealed right-sided laryngeal mass involving true vocal cord and false vocal fold.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/24419134/fig/1.jpg"], "caption": "Biopsy, H&E staining. Inset: high-power magnification.", "detailed_caption": "Biopsy with H&E staining showed large atypical cells with high nuclear to cytoplasmic ratio, fine chromatin with prominent nucleoli, and high mitotic activity. Inset shows high power magnification of myeloid blasts", "modalities": ["pathology"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/24419134/fig/2.jpg"], "caption": "Immunohistochemical staining for CD117 on laryngeal biopsy specimen, high-power field.", "detailed_caption": "B: Immunohistochemical staining for CD117 on a biopsy specimen of the laryngeal mass demonstrates strong positive labeling of neoplastic cells, confirming myeloid lineage; this image represents a high-power field of the laryngeal tissue section.", "modalities": ["pathology"]}, {"type": "fig", "id": 1, "subfig": "C", "path": ["images/24419134/fig/3.jpg"], "caption": "Immunohistochemical staining for myeloperoxidase of laryngeal tissue, high magnification.", "detailed_caption": "C: This panel presents an immunohistochemically stained section of the laryngeal mass for myeloperoxidase, demonstrating cytoplasmic positivity in neoplastic myeloid blasts, thereby confirming the myeloid lineage of the tumor cells; the tissue sample was obtained from the larynx and is shown at relatively high magnification.", "modalities": ["pathology"]}, {"type": "fig", "id": 2, "subfig": "A,B", "path": ["images/24419134/fig/4.jpg"], "caption": "Contrast-enhanced CT scan of the neck.", "detailed_caption": "Contrast-enhanced CT scan showed 2.7 x 2.7 x 2.8 cm mass arising from right true vocal cord and extending to supraglottis and anterior portion of left true vocal cord", "modalities": ["ct"]}], "diagnosis": "Extramedullary AML (granulocytic sarcoma) of the larynx", "standardized_diagnosis": [{"original_term": "Extramedullary acute myeloid leukemia", "corrected_term": null, "code": "2A60.3Z", "title": "Acute myeloid leukaemia, unspecified", "chapter": "Neoplasms", "primary": false}, {"original_term": "Granulocytic sarcoma of the larynx", "corrected_term": null, "code": "2A60.39", "title": "Granulocytic sarcoma", "chapter": "Neoplasms", "primary": true}]}, "year": 2014, "classification": "Neoplastic diseases"}
+{"pmid": "24486189", "patient_info": {"basic_info": "76-year-old man with extremely high serum ferritin concentration (33,790 μg/L). Carrier of haemochromatosis-associated allele (H63D/heterozygous). Laboratory tests showed renal insufficiency and liver damage, with bilirubin concentration of 730 μmol/L and unconjugated bilirubin concentration of 272 μmol/L.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/24486189/fig/1.jpg"], "caption": "(A) Light microscopy smear, 40× magnification. (B) Scanning electron microscopy. (C) Scanning electron microscopy.", "detailed_caption": "Abnormal red blood cell morphology shown in: (A) Light microscopy smear at 40x magnification showing changed morphology in most red blood cells, (B) Scanning electron microscopy showing red blood cells with pointed extensions and large membrane pores, contrasting with (C) normal discoid shape in healthy individuals", "modalities": ["pathology"]}], "diagnosis": "Iron overload with abnormal red blood cell morphology associated with H63D haemochromatosis allele", "standardized_diagnosis": [{"original_term": "Iron overload", "corrected_term": null, "code": "5C64.10", "title": "Iron overload diseases", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": true}, {"original_term": "Abnormal red blood cell morphology", "corrected_term": null, "code": "MA16.0Y", "title": "Red blood cell morphology abnormal", "chapter": "Symptoms, signs or clinical findings, not elsewhere classified", "primary": false}, {"original_term": "Haemochromatosis", "corrected_term": null, "code": "5C64.1Y", "title": "Haemochromatosis", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": false}]}, "year": 2014, "classification": "Endocrine and metabolic disorders"}
+{"pmid": "24470001", "patient_info": {"basic_info": "An 80-year-old man presented with melena and fresh red blood per rectum, associated with lightheadedness, but no other symptoms. His past medical history included metastatic Merkel cell carcinoma diagnosed eleven months earlier. During the current presentation, the patient remained hemodynamically stable but was dyspneic on exertion, though he denied any other cardiorespiratory symptoms. On examination, his jugular venous pressure was not elevated, pulsus paradoxus was not present, and there was no pedal edema. The chest was clear on auscultation and heart sounds were normal. Despite multiple investigations including two CT mesenteric angiograms, a definitive cause for the bleeding was not identified.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/24470001/fig/1.jpg"], "caption": "Cardiac MRI, axial orientation, performed during current clinical admission.", "detailed_caption": "Figure 1 on page 1 is a cardiac magnetic resonance imaging (MRI) scan in an axial orientation, depicting a lobulated right atrial mass located along the posterior aspect of the right atrium, as indicated by the arrow; the scan was performed during the current clinical admission to assess a newly identified cardiac lesion.", "modalities": ["mri", "clinical"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/24470001/fig/2.jpg"], "caption": "FDG-PET/CT scan, left axillary lymph node, SUVmax=13.7; right atrial mass, SUVmax=8.8.", "detailed_caption": "[18F]-fluorodeoxyglucose (FDG)-PET/CT scan demonstrated an intensely FDG-avid, enlarged left axillary lymph node (standardized uptake value, 13.7), and moderate to intense uptake in the right atrial mass (standardized uptake value, 8.8), but no evidence of metastatic disease elsewhere.", "modalities": ["ct", "pet/spect/nuclear"]}], "diagnosis": "Metastatic Merkel cell carcinoma with cardiac metastasis to the right atrium", "standardized_diagnosis": [{"original_term": "Merkel cell carcinoma", "corrected_term": null, "code": "2C34", "title": "Merkel cell carcinoma of unspecified site", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": false}, {"original_term": "Metastatic Merkel cell carcinoma", "corrected_term": null, "code": "2C34", "title": "Merkel cell carcinoma of unspecified site", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": true}, {"original_term": "Cardiac metastasis", "corrected_term": null, "code": "2D7Y&XA6H07", "title": "heart metastasis", "chapter": "Neoplasms", "primary": false}]}, "year": 2014, "classification": "Neoplastic diseases"}
+{"pmid": "24382068", "patient_info": {"basic_info": "A 41-year-old man presented to the emergency department with excruciating and sudden-onset abdominal pain originating in his right lower quadrant and radiating to his right groin and flank. The pain was slightly reduced when lying down but otherwise unaffected by position. He reported nausea and one episode of nonbloody, nonbilious emesis shortly after pain onset. Two weeks prior, he had experienced a less severe episode of similar pain in his left lower quadrant with radiation to his left flank, which resolved spontaneously. He reported several months of fatigue preceding these episodes but denied fevers, weight loss, chest pain, diarrhea, or urinary symptoms. He worked as a bartender in Massachusetts, had no medical problems or prescription medications, drank 1-2 alcoholic beverages 2-3 times weekly, and smoked one pack of cigarettes daily for 26 years. Family history included coronary artery disease and arrhythmias. Physical examination revealed an uncomfortable-appearing man with temperature 37.4°C, pulse 78 bpm, blood pressure 188/116 mmHg, respiratory rate 18/min, and oxygen saturation 96% on room air. Abdominal examination showed soft abdomen with diffuse, nonfocal tenderness on deep palpation in all quadrants without rebound tenderness or guarding. Bilateral costovertebral angle tenderness was present, more pronounced on the right side. Laboratory results showed white cell count 14,280/mm³ with 78% neutrophils, hemoglobin 12.6 g/dL, creatinine 1.5 mg/dL, and lactate dehydrogenase 440 U/L. Urinalysis revealed 1+ protein, specific gravity 1.043, and bland sediment. Erythrocyte sedimentation rate was 31 mm/hour and C-reactive protein 193 mg/dL. Various serologic tests including ANCAs, hepatitis B and C, HIV, antinuclear antibodies, and hypercoagulability panel were negative or normal.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/24382068/fig/1.jpg"], "caption": "CT of the abdomen after intravenous contrast administration.", "detailed_caption": "Computed tomographic scan of the abdomen after intravenous contrast administration shows infarcts in both kidneys with focal volume loss in the left kidney suggestive of scarring.", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/24382068/fig/2.jpg"], "caption": "(A) Angiogram of the left kidney vasculature. (B) Angiogram of the superior mesenteric artery vasculature.", "detailed_caption": "Angiographic studies reveal numerous microaneurysms in multiple vascular territories. Panel A shows angiogram of left kidney vasculature with a single large aneurysm and multiple small aneurysms. Panel B shows angiogram of superior mesenteric artery vasculature with many small aneurysms. Additional microaneurysms were found in both kidneys and hepatic arteries.", "modalities": ["angiography"]}], "diagnosis": "Polyarteritis nodosa", "standardized_diagnosis": [{"original_term": "Polyarteritis nodosa", "corrected_term": null, "code": "4A44.4", "title": "Polyarteritis nodosa", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": true}]}, "year": 2014, "classification": "Infectious and immunologic disorders"}
+{"pmid": "24401054", "patient_info": {"basic_info": "32-year-old man presented with progressive vision loss. History of hypertension, alcohol and illicit inhalational drug use (stopped 3 months prior). Symptoms began 3 weeks prior with painless conjunctival injection and dryness in left eye. One week before admission developed bilateral eye discharge with crusting. Three days before admission noted vision loss on awakening. Additional symptoms included 1-week hip pain, 3-week acneiform facial rash, and 4-week leg rash. Father had 'spine fusion disease'. Physical exam showed: temporal wasting, pale and thin appearance, BMI 19.4. Eyes showed punctate epithelial erosions on right cornea, perforated descemetocele on left cornea. Visual acuity 20/200 right eye, light perception only left eye. Other findings: petechiae on soft palate, follicular horny papules, perifollicular erythema, corkscrew hairs, nonscarring alopecia on arms, purpuric macules/papules on legs. Mental status showed flat affect and poor insight. Lab tests showed low sodium (124-127), low potassium (2.4-3.4), low total protein (5.2), low albumin (2.6), low calcium (7.8).", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/24401054/fig/1.jpg"], "caption": "Clinical photograph of the left eye.", "detailed_caption": "Photograph shows left eye with conjunctival injection and purulent crusting/discharge on eyelashes", "modalities": ["clinical"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/24401054/fig/2.jpg"], "caption": "(A) Head CT with contrast. (B) Head CT with contrast.", "detailed_caption": "A CT scan of the head obtained with the administration of contrast material shows multiple rim-enhancing cystic lesions in the submental subcutaneous tissue (Panel A, arrow). Fat stranding and swelling of the preseptal soft tissues of the left ocular globe (Panel B, arrow) are noted. The left sclera shows thickening and enhancement (arrowhead), which most likely indicate scleritis.", "modalities": ["ct"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/24401054/fig/3.jpg"], "caption": "(A) Skin biopsy. (B) Skin biopsy.(Hematoxylin and Eosin).", "detailed_caption": "Skin biopsy shows: A) Follicular keratotic plug suggestive of vitamin A deficiency B) Extravasated erythrocytes in superficial dermis suggestive of vitamin C deficiency", "modalities": ["pathology"]}], "diagnosis": "Severe vitamin A, C, and D deficiencies", "standardized_diagnosis": [{"original_term": "Severe vitamin A deficiency", "corrected_term": null, "code": "5B55.Z", "title": "Vitamin A deficiency", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": true}, {"original_term": "Severe vitamin C deficiency", "corrected_term": null, "code": "5B56.Z", "title": "Vitamin C deficiency", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": false}, {"original_term": "Severe vitamin D deficiency", "corrected_term": null, "code": "5B57.Z", "title": "Vitamin D deficiency", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": false}]}, "year": 2014, "classification": "Endocrine and metabolic disorders"}
+{"pmid": "24449240", "patient_info": {"basic_info": "A 50-year-old woman presented to her primary care physician with right nasal congestion and right parotid swelling. She had no significant past medical history but was a current smoker with a 35 pack-year history. Her symptoms did not respond to antibiotics or steroids. Physical examination and nasal endoscopy demonstrated swelling in the adenoid pad, more prominent on the right. CT scan confirmed the presence of a nasopharyngeal soft tissue density measuring 4.1 cm in diameter. Initial biopsy revealed atypical lymphoid hyperplasia with scattered large atypical cells with prominent nuclei that were positive for CD30, focally positive for CD15, and negative for CD20, CD45, CD56, and EBV latent membrane protein 1. Flow cytometry showed no clonal B cells. Following adenoidectomy, repeat MRI at 3 months showed recurrence of the mass. Subsequent nasal endoscopy with excision revealed a nodular infiltrate of small lymphocytes. The lymphoma cells were negative for CD20, CD45, and EBV latent membrane protein 1, with no clonal IGH gene arrangement identified. Additional workup included PET-CT scan showing fluorodeoxyglucose avidity only in the nasopharynx with standard uptake value maximum of 7.4 and no lymphadenopathy. Bone marrow biopsy was negative for lymphoma, establishing stage IEA disease.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/24449240/fig/1.jpg"], "caption": "Histopathological section of nasopharyngeal tissue, H&E staining.", "detailed_caption": "Figure 1 presents a histopathological section of nasopharyngeal tissue obtained during excision of a mass, stained with hematoxylin and eosin (H&E); the image demonstrates a nodular infiltrate of small lymphocytes with scattered classical Reed-Sternberg cells, as described in the figure legend and referenced in the body text on page 1, with no further details regarding magnification or specific view provided.", "modalities": ["pathology"]}, {"type": "fig", "id": 2, "subfig": "A", "path": ["images/24449240/fig/2.jpg"], "caption": "Immunohistochemical staining for CD30 of nasopharyngeal tissue, high magnification.", "detailed_caption": "A: Immunohistochemical staining of a nasopharyngeal tissue section for CD30 demonstrates classic Hodgkin lymphoma cells exhibiting characteristic Golgi staining; the section is shown at high magnification, confirming the presence of CD30-positive large atypical cells within the lymphoid infiltrate.", "modalities": ["pathology"]}, {"type": "fig", "id": 2, "subfig": "B", "path": ["images/24449240/fig/3.jpg"], "caption": "Immunohistochemistry for CD15.", "detailed_caption": "Shows CD15 positive staining in lymphoma cells with characteristic Golgi pattern", "modalities": ["pathology"]}], "diagnosis": "Lymphocyte-rich classical Hodgkin lymphoma of the nasopharynx", "standardized_diagnosis": [{"original_term": "Lymphocyte-rich classical Hodgkin lymphoma", "corrected_term": null, "code": "2B30.11", "title": "Lymphocyte-rich classical Hodgkin lymphoma", "chapter": "Neoplasms", "primary": true}]}, "year": 2014, "classification": "Neoplastic diseases"}
+{"pmid": "24431920", "patient_info": {"basic_info": "A 46-year-old woman presented with a 2-month history of myasthenia gravis, having initially developed ptosis, weakness in the neck, and dyspnea. She was diagnosed with acetylcholine receptor-positive myasthenia gravis. During her clinical course, she developed a myasthenic crisis requiring ventilator care. A mediastinal mass was incidentally discovered on chest radiography. The mass was clinically suspected to be a thymoma given the association with myasthenia gravis.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/24431920/fig/1.jpg"], "caption": "CT of the anterior mediastinum.", "detailed_caption": "Computed tomography reveals an anterior mediastinal mass with calcifications", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/24431920/fig/2.jpg"], "caption": "Gross pathological photograph of the resected anterior mediastinal mass.", "detailed_caption": "Figure 2 depicts a gross pathological photograph of the resected anterior mediastinal mass, showing a hard, lobulated nodule with a cut surface that is yellow to gray in color and exhibits calcification, consistent with the macroscopic appearance of the localized thymic amyloid deposit.", "modalities": ["pathology"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/24431920/fig/3.jpg"], "caption": "(A) Histopathology of the mass, H&E staining, 40× magnification. (B, C) Histopathology of the mass, H&E staining, 40× magnification.", "detailed_caption": "Histopathology of the mass, HE stained. (A) The mass consists of amorphous eosinophilic hyaline substances that surround islands of thymic tissues, × 40. (B, C) Calcification and ossification are present in the amyloid deposits, × 40.", "modalities": ["pathology"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/24431920/fig/4.jpg"], "caption": "Polarized light microscopy after Congo red staining.", "detailed_caption": "Apple-green birefringence is noted under polarized light microscopy after Congo red staining", "modalities": ["pathology"]}], "diagnosis": "Primary localized thymic amyloidosis with myasthenia gravis", "standardized_diagnosis": [{"original_term": "Primary localized thymic amyloidosis", "corrected_term": null, "code": "5D00.0", "title": "localised primary amyloidosis", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": true}, {"original_term": "Myasthenia gravis", "corrected_term": null, "code": "8C60.Z", "title": "Myasthenia gravis", "chapter": "Diseases of the nervous system", "primary": false}]}, "year": 2014, "classification": "Neoplastic diseases"}
+{"pmid": "24470008", "patient_info": {"basic_info": "78-year-old woman presented with asymptomatic, dome-shaped nodules on her left leg that appeared over a 1-year period. The lesions had pink-red surface; some were eroded and covered by necrotic crusts or fibrinous induit. Nodule diameters varied from 0.2 to 6 cm, with small satellite lesions around the largest nodule. Clinical examination showed bilaterally enlarged inguinal lymph nodes.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/24470008/fig/1.jpg"], "caption": "Clinical photograph of the left leg obtained after a one-year history of lesion appearance.", "detailed_caption": "Figure 1 is a clinical photograph depicting multiple dome-shaped, pink-red nodules with some areas of erosion, necrotic crust, or fibrinous coating on the left leg, illustrating the cutaneous presentation of Merkel cell carcinoma on the extremity of a 78-year-old woman as observed on clinical examination after a one-year history of gradual lesion appearance.", "modalities": ["clinical"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/24470008/fig/2.jpg"], "caption": "Clinical photograph of the left leg.", "detailed_caption": "Figure 2 is a clinical photograph demonstrating multiple, clustered, dome-shaped nodules with a pink-red surface and areas of erosion and necrotic crust on the left leg; the image highlights lesions ranging from 0.2 to 6 cm in diameter, including small satellite nodules surrounding the largest lesion, consistent with the clinical presentation of Merkel cell carcinoma.", "modalities": ["clinical"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/24470008/fig/3.jpg"], "caption": "Histologic examination, H&E staining. Immunohistochemistry, cytokeratin (CK) 20 and neuron-specific enolase.", "detailed_caption": "Histologic examination showed dermal-based lesion composed of strands of small, uniform, round cells with scanty cytoplasm and round to oval nucleoli with powdery chromatin. Immunohistochemistry showed characteristic paranuclear dot-like positivity with cytokeratin (CK) 20 and neuron-specific enolase positivity", "modalities": ["pathology"]}], "diagnosis": "Multiple lesions of Merkel cell carcinoma (MCC)", "standardized_diagnosis": [{"original_term": "Merkel cell carcinoma", "corrected_term": null, "code": "2C34", "title": "Merkel cell carcinoma of unspecified site", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": true}]}, "year": 2014, "classification": "Neoplastic diseases"}
+{"pmid": "24552345", "patient_info": {"basic_info": "12-year-old Hispanic girl initially presented with proteinuria detected at a well-child visit. Blood urea nitrogen and serum creatinine levels were normal. Urinalysis showed trace blood with urinary protein-to-creatinine ratio of 1.5. Renal ultrasonography showed normal-size kidneys. C3 and C4 serum levels were normal. By age 17, she had developed hypertension and urinary protein-to-creatinine ratio increased to 5.2. She was otherwise asymptomatic.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/24552345/fig/1.jpg"], "caption": "(A) Light microscopy, high-power view, Periodic acid–Schiff (PAS) staining. (B, C) Immunofluorescence microscopy for C3. (D) Immunofluorescence microscopy for C4d. (E, F) Electron microscopy, medium power.", "detailed_caption": "Panel A shows findings on light microscopy (high-power view). Periodic acid–Schiff staining shows a proliferative glomerulonephritis with dense ribbonlike material (white arrows) along the capillary wall. In Panels B and C, immunofluorescence microscopy was negative for C3 (the yellow arrows indicate the glomerulus). C3 staining (internal positive control) in the tubules indicates reabsorption granules (white arrows in Panel B) and segmental staining in one capillary tuft (white arrow in Panel C). In Panel D, immunofluorescence microscopy shows bright staining for C4d. In Panels E and F, electron microscopy at medium power shows large osmiophilic subendothelial dense deposits lining the glomerular basement membrane (white arrow in Panel E). Panel F shows a double-contour formation (black arrows indicate the basement membrane). The deposits line the glomerular basement membrane and do not infiltrate the glomerular basement membrane.", "modalities": ["pathology"]}], "diagnosis": "C4 dense-deposit disease characterized by C3-negative proliferative glomerulonephritis with C4 deposition associated with large osmiophilic subendothelial dense deposits, driven by overactivation of the lectin pathway", "standardized_diagnosis": [{"original_term": "C4 dense-deposit disease", "corrected_term": null, "code": "LD24.GY", "title": "C syndrome", "chapter": "Developmental anomalies", "primary": true}, {"original_term": "Proliferative glomerulonephritis", "corrected_term": null, "code": "GB40&XT8W", "title": "Proliferative glomerulonephritis NOS", "chapter": "Diseases of the genitourinary system", "primary": false}]}, "year": 2014, "classification": "Infectious and immunologic disorders"}
+{"pmid": "24493727", "patient_info": {"basic_info": "A 56-year-old man presented to the emergency room with shortness of breath, cough, fever, and chest pain. He had a history of mild essential hypertension but no history of significant cardiovascular disease. Five years prior to this acute presentation, he was diagnosed with immunoglobulin A myeloma and had undergone multiple treatment cycles including idarubicin and dexamethasone, thalidomide maintenance, autologous hematopoietic stem-cell transplantation, and subsequent relapses treated with bortezomib/dexamethasone and most recently lenalidomide starting 2 months before his emergency presentation. On presentation, cardiac enzymes were slightly elevated, his initial electrocardiogram and chest radiograph were normal, but he subsequently became acutely tachycardic with a second electrocardiogram demonstrating atrial flutter and an echocardiogram identifying a small pericardial effusion.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/24493727/tab/1.jpg"], "caption": "Laboratory results for total IgA and IgA kappa paraprotein levels; bone marrow infiltration percentages at presentation, first relapse, and second relapse; skeletal survey for lytic lesions at T10/T11 initially and L3/L5 at second relapse.", "detailed_caption": "Shows disease course from initial presentation to second relapse with total IgA levels ranging from 80.8 g/L at presentation to 4.33 g/L at second relapse, IgA kappa paraprotein levels from 40 g/L initially to detectable but unsuitable for analysis at relapses, bone marrow infiltration of 65% at presentation, 25% at first relapse, and 30% at second relapse, with lytic lesions identified on skeletal surveys at T10/T11 initially and L3/L5 at second relapse.", "modalities": ["lab", "x-ray"]}, {"type": "fig", "id": 1, "subfig": null, "path": ["images/24493727/fig/2.jpg"], "caption": "Low-power microscopic examination of myocardium sections.", "detailed_caption": "Low-power magnification microscopic examination of myocardium sections revealing diffuse infiltrate of pleomorphic plasma cells.", "modalities": ["pathology"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/24493727/fig/3.jpg"], "caption": "High-power microscopic examination of myocardium sections.", "detailed_caption": "High-power magnification microscopic examination of myocardium sections showing diffuse infiltrate of pleomorphic plasma cells.", "modalities": ["pathology"]}], "diagnosis": "Congestive cardiac failure secondary to myocardial infiltration from multiple myeloma relapse", "standardized_diagnosis": [{"original_term": "Congestive cardiac failure", "corrected_term": null, "code": "BD10", "title": "Congestive heart failure", "chapter": "Diseases of the circulatory system", "primary": true}, {"original_term": "Myocardial infiltration", "corrected_term": null, "code": "5C51.3", "title": "glycogenic myocardial infiltration", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": false}, {"original_term": "Multiple myeloma relapse", "corrected_term": null, "code": "2A83.1", "title": "multiple myeloma", "chapter": "Neoplasms", "primary": false}]}, "year": 2014, "classification": "Neoplastic diseases"}
+{"pmid": "24567432", "patient_info": {"basic_info": "A 29-year-old female former smoker was diagnosed with stage IV signet-ring cell carcinoma of the lung with multiple pulmonary metastases. Fluorescent in situ hybridization analysis of biopsied tumor tissue revealed the presence of an anaplastic lymphoma kinase gene (ALK) rearrangement. After 10 months of crizotinib therapy, the patient showed no symptoms of infection such as fever or weight loss, helping to rule out differential diagnoses of abscess, tuberculosis, and parasitic infection for the cystic brain masses.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/24567432/fig/1.jpg"], "caption": "CT of the brain performed over a two-month period.", "detailed_caption": "CT imaging revealed multiple cystic lesions in the brain that increased in size and number over a two-month period, suggesting brain metastases.", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": "A", "path": ["images/24567432/fig/2.jpg"], "caption": "MRI of the brain, T1-weighted and T2-weighted sequences.", "detailed_caption": "Cranial MRI revealed multiple cystic masses that were predominantly centrally hypointense in T1-weighted images and hyperintense in T2-weighted images with an extremely thin cyst wall.", "modalities": ["mri"]}], "diagnosis": "Cystic brain metastasis in non-small-cell lung cancer with ALK rearrangement", "standardized_diagnosis": [{"original_term": "Non-small-cell lung cancer", "corrected_term": null, "code": "2C25.Y", "title": "Non small cell lung cancer", "chapter": "Diseases of the respiratory system", "primary": false}, {"original_term": "Brain metastasis", "corrected_term": null, "code": "2D50", "title": "brain metastases", "chapter": "Neoplasms", "primary": false}, {"original_term": "Cystic brain metastasis", "corrected_term": null, "code": "2D50", "title": "brain metastases", "chapter": "Neoplasms", "primary": true}, {"original_term": "ALK rearrangement", "corrected_term": null, "code": "LD47.Z", "title": "Balanced rearrangements or structural rearrangements", "chapter": "Developmental anomalies", "primary": false}]}, "year": 2014, "classification": "Neoplastic diseases"}
+{"pmid": "24550415", "patient_info": {"basic_info": "23-year-old white female initially diagnosed with stage IIB melanoma of the upper extremity after wide resection and sentinel lymph node biopsy. Ten months later, she developed metastatic disease with a large chest wall mass and axillary lymph node involvement. Initial imaging showed bilateral pulmonary nodules and bilateral hilar adenopathy. Five months after that, she developed lower extremity neurologic deficits.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/24550415/fig/1.jpg"], "caption": "Sagittal T1-weighted MRI with contrast of the spinal cord and conus medullaris.", "detailed_caption": "Sagittal T1 image with contrast shows diffuse enhancement of the pial surface of the cord and conus medullaris, indicating melanomatous meningitis, as well as medullary deposits in the cord", "modalities": ["mri"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/24550415/fig/2.jpg"], "caption": "Sagittal T2-weighted MRI.", "detailed_caption": "Sagittal T2 image shows diffuse cord edema secondary to these deposits", "modalities": ["mri"]}], "diagnosis": "Melanomatous meningitis (MM) with concurrent spinal cord metastases, confirmed by presence of malignant cells consistent with melanoma in spinal fluid", "standardized_diagnosis": [{"original_term": "Melanomatous meningitis", "corrected_term": null, "code": "1D01.Z", "title": "meningitis NOS", "chapter": "Diseases of the nervous system", "primary": true}, {"original_term": "Spinal cord metastases", "corrected_term": null, "code": "2D52", "title": "Malignant neoplasm metastasis in spinal cord", "chapter": "Neoplasms", "primary": false}, {"original_term": "Melanoma", "corrected_term": null, "code": "2C30.Z", "title": "melanoma NOS", "chapter": "Neoplasms", "primary": false}]}, "year": 2014, "classification": "Neoplastic diseases"}
+{"pmid": "24450895", "patient_info": {"basic_info": "A 61-year-old woman presented with a 3-4 week history of gastrointestinal symptoms including epigastric pain, vomiting, and diarrhea, along with fever and arthralgias that she initially attributed to viral gastroenteritis. She had a medical history of labile hypertension, hypercholesterolemia, allergic rhinitis, and possible GERD. Physical examination revealed mild epigastric tenderness, blood pressure of 160/77 mmHg, pulse of 89 bpm, and temperature of 37.7°C. Stool was positive for occult blood. Upper endoscopy showed only a small hiatal hernia. Testing for ANA and anti-dsDNA antibodies was negative.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/24450895/tab/1.jpg"], "caption": "Laboratory results.", "detailed_caption": "Laboratory data showing progressive anemia (hemoglobin declining from 13.4 to 8.9 g/dL), acute kidney injury (creatinine rising from 0.88 to 1.66 mg/dL), elevated inflammatory markers (ESR 28 mm/hr, CRP 47.2 mg/L), abnormal free light chain ratio (kappa:lambda 3.1), low immunoglobulins (IgA 67, IgG 523, IgM 80 mg/dL), very low complement C4 (<2 mg/dL), low C3 (77 mg/dL), positive rheumatoid factor (41 IU/mL), and active urinary sediment with proteinuria, hematuria, numerous casts including red cell casts, and high urine protein content", "modalities": ["lab"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/24450895/fig/2.jpg"], "caption": "(A) Kidney tissue, H&E staining. (B) Kidney tissue, PAS staining. (C) Vessel, H&E staining. (D) Kidney immunofluorescence for IgM. (E) Kidney electron microscopy.", "detailed_caption": "Glomeruli have pseudothrombi (arrows), swollen endothelial cells, and endocapillary inflammatory cells (Panel A, hematoxylin and eosin; and Panel B, periodic acid–Schiff). Vessels with reactive endothelial cells, mural cryoglobulin deposits (Panel C, arrow; hematoxylin and eosin), extravasated red cells (arrowhead), and karyorrhectic debris are present. IgM immunofluorescence (Panel D) revealed granular staining of capillary loops and positive pseudothrombi. An electron micrograph (Panel E) shows a subendothelial deposit with a tubular substructure. (In all images, the Smart Sharpen filter [Photoshop CS] was used for white balance and sharpening, with identical settings for each image.)", "modalities": ["pathology"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/24450895/fig/3.jpg"], "caption": "(A) Cryocrit tube. (B) Gel electrophoresis of washed cryoprecipitate. (C) Bone marrow aspirate flow cytometry. (D) Bone marrow aspirate flow cytometry.", "detailed_caption": "The left cryocrit tube (Panel A) shows a negative sample, and the right tube shows a sample from the patient, with 3% of the total serum volume consisting of a cryoprecipitate (cryo). Gel electrophoresis (Panel B) performed on the washed cryoprecipitate shows a band at the origin (arrowhead) and a cathodal band (arrow). In replicate lanes probed with isotype-specific antiserums, IgM and kappa antiserums show similar banding patterns, whereas IgG shows a polyclonal smear. Flow cytometry of a bone marrow aspirate (Panel C) shows a small population of CD20+ B cells with expression of kappa light chain. This population is negative for lambda light chain (Panel D). FITC denotes fluorescein isothiocyanate, PE phycoerythrin, and PERCP peridinin chlorophyll protein. Panels C and D courtesy of Frederic I. Preffer, Ph.D., Flow Cytometry Laboratory.", "modalities": ["lab", "electrophysiology"]}], "diagnosis": "Type II cryoglobulinemia with acute glomerulonephritis and renal vasculitis", "standardized_diagnosis": [{"original_term": "Type II cryoglobulinemia", "corrected_term": null, "code": "4B22", "title": "Cryoglobulinaemia Type II", "chapter": "Diseases of the immune system", "primary": true}, {"original_term": "Acute glomerulonephritis", "corrected_term": null, "code": "GB40&XT5R", "title": "acute glomerulonephritis", "chapter": "Diseases of the genitourinary system", "primary": false}, {"original_term": "Renal vasculitis", "corrected_term": null, "code": "BD52", "title": "Renal vasculitis", "chapter": "Diseases of the circulatory system", "primary": false}]}, "year": 2014, "classification": "Infectious and immunologic disorders"}
+{"pmid": "24470010", "patient_info": {"basic_info": "A 15-year-old boy with congenital neutropenia due to an ELA2 gene mutation and refractory anemia with excess blasts 2 (WHO Myelodysplastic Syndrome Classification) was referred to the hospital for bone marrow transplantation. He had a history of low absolute neutrophil count ranging from 200 to 1,000/μL and frequently required granulocyte colony-stimulating factor and antimicrobial therapy for multiple bacterial skin and lung infections since infancy. On physical examination, he presented with multiple nonpruritic skin ulcerations on the right side of his abdomen, scalp, and left ankle. According to patient and family history, these skin lesions had been present for several weeks and were initially thought to be of fungal origin. Laboratory studies showed normal absolute neutrophil count while receiving granulocyte colony-stimulating factor, normal absolute lymphocyte and eosinophil counts, significantly elevated immunoglobulin G levels (3× the upper normal level for his age), and normal immunoglobulin E levels.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/24470010/fig/1.jpg"], "caption": "(A) Clinical photograph of the scalp at hospital admission.", "detailed_caption": "A: Figure 1 (A) on page 1 is a clinical photograph showing the patient's scalp with numerous discrete, coalescing, erythematous, crusted, variably alopecic, and eroded plaques measuring 10 by 15 centimeters in aggregate, representing nonpruritic ulcerative skin lesions present for several weeks at the time of hospital admission.", "modalities": ["clinical"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/24470010/fig/2.jpg"], "caption": "(B) Clinical photograph of the right flank.", "detailed_caption": "B: Figure 1 (B) is a clinical photograph depicting the patient's right flank, showing two large, well-defined, round and oval, focally eroded erythematous and hyperpigmented plaques, with a total aggregate size of 30 cm, representing nonpruritic ulcerative skin lesions that had been present for several weeks.", "modalities": ["clinical"]}, {"type": "fig", "id": 2, "subfig": "A", "path": ["images/24470010/fig/3.jpg"], "caption": "Skin section, H&E staining.", "detailed_caption": "Hematoxylin and eosin-stained section shows skin with focal epidermal ulceration at the edge of the biopsy, hyperkeratosis, parakeratosis, and a mite burrowing into the stratum corneum. The superficial/papillary dermis demonstrates chronic inflammation, increased fibrosis, and a haphazard arrangement of skin adnexal structures", "modalities": ["pathology"]}, {"type": "fig", "id": 2, "subfig": "B", "path": ["images/24470010/fig/4.jpg"], "caption": "Longitudinal section of a scabies mite.", "detailed_caption": "Shows a longitudinal section of a scabies mite with a chitin exoskeleton, with spines on its dorsal surface allowing it to anchor to the stratum corneum and internal organs", "modalities": ["pathology"]}], "diagnosis": "Crusted scabies", "standardized_diagnosis": [{"original_term": "Crusted scabies", "corrected_term": null, "code": "1G04.1", "title": "Crusted scabies", "chapter": "Certain infectious or parasitic diseases", "primary": true}]}, "year": 2014, "classification": "Infectious and immunologic disorders"}
+{"pmid": "24516032", "patient_info": {"basic_info": "A 78-year-old white woman was referred by her general practitioner for anemia with a high erythrocyte sedimentation rate. Her main complaints were lethargy and easy fatigue that had persisted for 2 months. Her past medical history included hypertension and high cholesterol, for which she was receiving perindopril and atorvastatin tablets. Clinical examination revealed normal cardiac, respiratory, and neurologic statuses, with no organomegaly or lymphadenopathy. Her Eastern Cooperative Oncology Group performance status was 1. Initial blood tests showed low hemoglobin (99 g/L; normal range 120-160 g/L), normal white cell and platelet counts, high erythrocyte sedimentation rate (120 mm per hour; normal range 5-20 mm per hour), mildly elevated creatinine level (110 mmol/L; normal range 50-100 mmol/L), and high calcium level (2.81 mmol/L; normal range 2.10-2.60 mmol/L). Lactate dehydrogenase was mildly elevated (333 U/L; normal range 125-243 U/L). Additional blood investigations revealed high levels of immunoglobulin G (IgG) kappa paraprotein quantified at 32 g/L, high β₂-microglobulin (6.3 mg/L; normal level <3.0 mg/L), high free kappa light chains of 1,400 mg/L (normal level <19 mg/L), and a high kappa/lambda ratio of 280. Bence-Jones protein (kappa) was detected in urine, and 24-hour urine protein excretion was within normal limits. Serum vitamin D, parathyroid hormone, and alkaline phosphatase levels were within normal ranges.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/24516032/fig/1.jpg"], "caption": "Bone marrow histopathology, trephine section, 16× magnification.", "detailed_caption": "Histopathologic examination of bone marrow trephine showed a marked increase in trabecular bone mass with scanty marrow. The thickened trabeculae were covered by osteoid seams showing active mineralization, indicating increased osteoblastic activity (×16 magnification).", "modalities": ["pathology"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/24516032/fig/2.jpg"], "caption": "(A) Bone marrow biopsy, 400× magnification, CD138 immunohistochemical staining. (B) Bone marrow biopsy, reticulin fibers, silver nitrate staining.", "detailed_caption": "Marrow spaces appeared as small islands within thickened trabeculae and were markedly hypercellular. Approximately 80% of the marrow was infiltrated with abnormal plasma cells (×400 magnification), confirmed by positive CD138 immunohistochemical stain. Reticulin fibers were markedly increased as evidenced by silver nitrate staining.", "modalities": ["pathology"]}, {"type": "fig", "id": 2, "subfig": "A", "path": ["images/24516032/fig/3.jpg"], "caption": "Skeletal survey with x-rays, anteroposterior view, axial bones including skull, ribs, vertebrae, and pelvis.", "detailed_caption": "Skeletal survey with x-rays showed sclerotic dense bones causing diffuse increase in radio-opacity throughout the axial bones, including skull, ribs, vertebrae, and pelvis (anteroposterior view), and to a lesser extent in upper and lower limb bones.", "modalities": ["x-ray"]}, {"type": "tab", "id": 1, "subfig": null, "path": ["images/24516032/tab/4.jpg"], "caption": "Bone mass densitometry of the lumbar spine (L2-L4) and femoral neck performed before treatment.", "detailed_caption": "Pretreatment bone mass densitometry showed markedly increased bone mineral density: lumbar spine (L2-L4) was 2.192 g/cm², T-score 7.1, representing 178% of young adult values and 226% of age-matched values; femoral neck was 1.661 g/cm², T-score 5.1, representing 163% of young adult values and 228% of age-matched values.", "modalities": ["general imaging"]}], "diagnosis": "Multiple myeloma with diffuse osteosclerosis", "standardized_diagnosis": [{"original_term": "Multiple myeloma", "corrected_term": null, "code": "2A83.1", "title": "multiple myeloma", "chapter": "Neoplasms", "primary": true}, {"original_term": "Diffuse osteosclerosis", "corrected_term": null, "code": "FB80.4", "title": "Osteosclerosis", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": false}]}, "year": 2014, "classification": "Neoplastic diseases"}
+{"pmid": "24569524", "patient_info": {"basic_info": "A 21-year-old man presented to his general practitioner with intermittent left-sided pain in the anterior chest wall associated with neck discomfort. The pain was described as 'stabbing' in nature and had arisen suddenly while watching television, with no history of trauma before onset. The pain was not exacerbated by inspiration or effort. His medical history and physical examination were initially unremarkable. Several days later, he attended the emergency department with worsening chest pain and dyspnea. On examination, chest expansion was equal and breath sounds were normal, although there was crepitus on auscultation of the precordium. Palpation of the neck and supraclavicular fossae detected subcutaneous emphysema. His respiratory rate was 25 breaths per minute and oxygen saturations were 100%. His full blood count and inflammatory markers were within normal limits.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/24569524/fig/1.jpg"], "caption": "Chest radiograph on admission.", "detailed_caption": "Chest radiograph on admission showing linear lucencies in the suprasternal region and superior mediastinum projected parallel to the trachea, with changes most prominent to the left of the trachea, consistent with paratracheal free air and gas in the soft tissues at the base of the neck extending into the superior mediastinum.", "modalities": ["x-ray"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/24569524/fig/2.jpg"], "caption": "CT of the superior mediastinum, axial view, contrast-enhanced.", "detailed_caption": "Contrast enhanced axial CT image at the level of the superior mediastinum showing areas of decreased attenuation lying posterior to the sternum, adjacent to the left brachiocephalic vein and to the right of the trachea, with attenuation values consistent with gas and no parenchymal lung disease, confirming pneumomediastinum.", "modalities": ["ct"]}], "diagnosis": "Spontaneous pneumomediastinum (Hamman's syndrome)", "standardized_diagnosis": [{"original_term": "Spontaneous pneumomediastinum", "corrected_term": null, "code": "CB40.3", "title": "pneumomediastinum", "chapter": "Diseases of the respiratory system", "primary": true}, {"original_term": "Hamman's syndrome", "corrected_term": null, "code": "CB03.0", "title": "Hamman-Rich syndrome", "chapter": "Diseases of the respiratory system", "primary": false}]}, "year": 2014, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "24622421", "patient_info": {"basic_info": "14-year-old boy presented to trauma unit with gunshot wound to left eye. Alert and hemodynamically stable, blind in left eye, no CSF rhinorrhea. Pubertal status: Tanner stage S3, height: 1.7m (75th percentile). Laboratory findings: 8am serum cortisol 28 nmol/L (normal 171-536), thyroid-stimulating hormone 0.63 mIU/L (normal 0.27-4.20), free thyroxine 13.5 pmol/L (normal 13.6-23.2), luteinising hormone 0.7 IU/L (normal 1.3-9.8), insulin-like growth factor 1 19.4 nmol/L (normal 28.8-127.3), prolactin 13.04 pmol/L (normal 174-660.9), testosterone undetectable <0.1 nmol/L (normal 1-38.5).", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/24622421/fig/1.jpg"], "caption": "Plain radiograph.", "detailed_caption": "Plain radiograph shows 9mm bullet partly located in the sphenoid sinus", "modalities": ["x-ray"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/24622421/fig/2.jpg"], "caption": "CT scan of the clivus and pituitary fossa.", "detailed_caption": "CT scan shows fracture of the clivus with bullet partially located in pituitary fossa, with associated artifact", "modalities": ["ct"]}], "diagnosis": "Complete anterior hypopituitarism", "standardized_diagnosis": [{"original_term": "Complete anterior hypopituitarism", "corrected_term": null, "code": "5A61.0", "title": "Hypopituitarism", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": true}]}, "year": 2013, "classification": "Endocrine and metabolic disorders"}
+{"pmid": "24552323", "patient_info": {"basic_info": "A 35-day-old male infant, born at 37.5 weeks gestation as a fraternal twin via cesarean section for breech presentation, presented with fever, vomiting, mottled skin, and severe anemia. The patient was previously healthy, consuming both breast milk and formula. His mother had uncomplicated prenatal care with negative screening tests for various infections. Two days before admission, he was well at a routine examination. The day before admission, his mother noted increased fussiness, pale and warm skin, and one episode of vomiting. On the morning of admission, tachycardia was noted with increased vomiting. At presentation, the patient was pale with mottled skin and showed signs of respiratory distress. Physical examination revealed a temperature of 39.1°C, blood pressure 101/69 mmHg, pulse 176 beats per minute, respiratory rate 68 breaths per minute with supraclavicular, intercostal, and subcostal retractions, and oxygen saturation 97% on 1 liter of oxygen via nasal cannula. He was pale, listless, and fussy with a holosystolic-flow murmur grade 2/6. The spleen was palpated 2-3 cm below the costal margin. His arms and legs were mottled and slightly cool. The family lived in a suburban, forested neighborhood where the mother frequently walked, and they had a pet dog. The mother had vacationed on an island off the coast of Massachusetts approximately 2.5 months before admission. Urinalysis showed dark red, cloudy urine with large amounts of blood, protein, and granular casts.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/24552323/tab/1.jpg"], "caption": "Laboratory results from the other hospital and this hospital. Blood smear examination, Wright's stain. Cerebrospinal fluid analysis, Wright's stain.", "detailed_caption": "Laboratory results showed severe anemia with hematocrit of 16.9% at the other hospital and 20.9% at this hospital, hemoglobin 6.1 g/dl and 7.6 g/dl respectively. Severe thrombocytopenia with platelet count of 23,000 and 36,000 per mm³. White cell count was normal at 8000 and 6500 per mm³, but neutropenia was present (6% and 9% neutrophils). Blood smear showed moderate stippling and polychromasia with 35-40% erythrocytes containing multiple ring forms at the other hospital, and 18% erythrocytes with intracellular parasites including multiple ring forms at this hospital. Elevated D-dimer at 5906 ng/ml, elevated aspartate aminotransferase at 121 and 134 U/liter, and markedly elevated lactate dehydrogenase at 2254 U/liter. Cerebrospinal fluid showed normal cell counts and chemistry with Wright's stain revealing intraerythrocytic ring forms.", "modalities": ["lab", "pathology"]}, {"type": "fig", "id": 1, "subfig": null, "path": ["images/24552323/fig/2.jpg"], "caption": "Chest and abdominal radiograph.", "detailed_caption": "Chest and abdominal radiograph showed perihilar vascular congestion consistent with mild pulmonary edema, normal cardiac and mediastinal silhouette, and homogeneous haziness overlying the left upper abdomen consistent with splenomegaly.", "modalities": ["x-ray"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/24552323/fig/3.jpg"], "caption": "(A) Peripheral blood smear. (B) Peripheral blood smear.", "detailed_caption": "A thin peripheral-blood smear shows erythrocytes containing organisms characterized by a ring (stained pale purple) with central clearing and a peripheral purple chromatin dot (Panel A). Several erythrocytes contain four organisms (Panel B), which represent the stages that occur after the breakdown of the classic tetrad (“Maltese cross”) configuration, a feature characteristic of babesia.", "modalities": ["pathology"]}, {"type": "tab", "id": 2, "subfig": null, "path": ["images/24552323/tab/4.jpg"], "caption": "Laboratory testing for B. microti antibody titer, PCR for Anaplasma phagocytophilum, ehrlichia, and babesia, antibody testing for borrelia, immunohistochemical staining and PCR for babesia on placental tissue, and PCR for babesia on dried blood spots.", "detailed_caption": "Additional testing showed the patient had B. microti antibody titer positive at 1:1024 after partial exchange transfusion. PCR tests for Anaplasma phagocytophilum and ehrlichia were negative, as were IgM and IgG antibodies against borrelia. The patient's twin and mother both had high B. microti antibody titers of 1:4096 but negative PCR tests for babesia. Dried blood spots from both infants collected at birth were negative for babesia by PCR. Placental tissue was negative for babesia by both immunohistochemical staining and PCR.", "modalities": ["lab", "pathology", "genetic"]}], "diagnosis": "Babesiosis, most likely congenitally acquired", "standardized_diagnosis": [{"original_term": "Babesiosis", "corrected_term": null, "code": "1F52", "title": "Babesiosis", "chapter": "Certain infectious or parasitic diseases", "primary": false}, {"original_term": "Congenital babesiosis", "corrected_term": null, "code": "1F52", "title": "Babesiosis", "chapter": "Certain infectious or parasitic diseases", "primary": true}]}, "year": 2014, "classification": "Infectious and immunologic disorders"}
+{"pmid": "24733790", "patient_info": {"basic_info": "A 22-year-old African American/Asian college-age woman presented with a 3-month history of mild exertional dyspnea that progressively worsened despite treatment with inhalers for suspected reactive airway disease. She reported shortness of breath with mild exertion, nonproductive cough for several weeks, and a 5-lb weight loss. She denied fever, chills, headaches, syncope, dizziness, bone pain, nausea, or vomiting. Physical examination was unremarkable except for decreased breath sounds and slight dullness to percussion on the left. Routine laboratory work-up was unremarkable. Initially, chest x-ray showed mediastinal widening, which led to further imaging and biopsy. An open mediastinal biopsy was performed after CT-guided biopsy failed, revealing a poorly differentiated carcinoma initially thought to be thymic carcinoma. Flow cytometry from tissue showed T cells and polyclonal B cells with no immunophenotypic evidence of malignancy.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/24733790/fig/1.jpg"], "caption": "Chest CT scan. Staging CT scan.", "detailed_caption": "Chest CT scan showed a mediastinal mass that had significantly increased in size over 1 month, with bulky confluent pretracheal and subcarinal lymphadenopathy causing compression of the distal carina and left main stem bronchus. Staging CT scan showed no evidence of metastatic disease.", "modalities": ["ct"]}], "diagnosis": "NUT midline carcinoma", "standardized_diagnosis": [{"original_term": "NUT midline carcinoma", "corrected_term": null, "code": "2D41", "title": "carcinoma NOS", "chapter": "Neoplasms", "primary": true}]}, "year": 2016, "classification": "Neoplastic diseases"}
+{"pmid": "24476450", "patient_info": {"basic_info": "A 49-year-old HIV-negative woman with relapsing-remitting multiple sclerosis and an EDSS score of 2.5 had received 43 infusions of natalizumab monotherapy over 3.6 years. She presented with an episode of aphasia and seizure, leading to a diagnosis of progressive multifocal leukoencephalopathy (PML). She was considered at high risk for severe immune reconstitution inflammatory syndrome (IRIS) due to elevated JC viral load in cerebrospinal fluid. Her condition remained stable without clinical or imaging evidence of overt IRIS initially. Approximately 2 months after plasmapheresis, she inadvertently stopped taking maraviroc for 5 days and subsequently presented with cognitive and behavioral changes.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A and B", "path": ["images/24476450/fig/1.jpg"], "caption": "MRI, axial fluid-attenuated inversion recovery (FLAIR) sequence.", "detailed_caption": "Axial fluid-attenuated inversion recovery images showed multilobar progressive multifocal leukoencephalopathy at presentation", "modalities": ["mri"]}, {"type": "fig", "id": 1, "subfig": "C", "path": ["images/24476450/fig/2.jpg"], "caption": "T1-weighted MRI of the brain, axial view, obtained approximately two months after plasmapheresis and five days after discontinuation of maraviroc, post-gadolinium infusion.", "detailed_caption": "C: A T1-weighted axial magnetic resonance image of the brain obtained after gadolinium infusion approximately two months after plasmapheresis, following a five-day discontinuation of maraviroc, demonstrates frank immune reconstitution inflammatory syndrome (IRIS) involving all visible progressive multifocal leukoencephalopathy (PML) lesions.", "modalities": ["mri"]}], "diagnosis": "Natalizumab-associated progressive multifocal leukoencephalopathy with subsequent JC virus-associated immune reconstitution inflammatory syndrome", "standardized_diagnosis": [{"original_term": "Progressive multifocal leukoencephalopathy", "corrected_term": null, "code": "8A45.02", "title": "Progressive multifocal leukoencephalopathy", "chapter": "Diseases of the nervous system", "primary": true}, {"original_term": "Immune reconstitution inflammatory syndrome", "corrected_term": null, "code": "4B23", "title": "Immune reconstitution inflammatory syndrome", "chapter": "Diseases of the immune system", "primary": false}]}, "year": 2014, "classification": "Neurological disorders"}
+{"pmid": "24733745", "patient_info": {"basic_info": "A 60-year-old woman originally from Greece was admitted after burning herself while trying to warm her legs on an electric heater. She had rheumatoid arthritis treated with methotrexate and adalimumab. Four months prior to admission, she developed pain and stiffness in her metacarpophalangeal and interphalangeal joints, right ankle, and both knees. Six weeks before admission, she presented with severe arthralgia, temperature of 37.6°C, a net-like rash on her legs compatible with livedo reticularis, and purpuric lesions around the malleoli. Laboratory examinations at that time showed hemoglobin 109 g/L, leukocytes 2.9 × 10⁹/L, neutrophils 1.2 × 10⁹/L, platelets 170 × 10⁹/L, rheumatoid factor 183 IU/mL, hypergammaglobulinemia, antinuclear antibodies 1:640, complement C4 0.04 g/L, anti-double stranded DNA antibody 8.6 IU/mL, negative antibodies to extractable nuclear antigens, and a positive test for cryoglobulins. Serological tests for HIV, hepatitis B, and hepatitis C viruses were negative. On admission, fever (38.7°C) and pancytopenia (leukocytes 1.8 × 10⁹/L, neutrophils 0.5 × 10⁹/L, hemoglobin 90 g/L, platelets 126 × 10⁹/L) were noted. She had no hepatosplenomegaly or lymphadenopathy. A blood film was unremarkable. Cultures of blood, urine, and sputum; computed tomography of the chest, abdomen, and pelvis; a polymerase chain reaction assay of the peripheral blood for cytomegalovirus, and a tuberculin skin test were negative. History revealed she had traveled to Athens seven months earlier and had stayed with relatives who kept several dogs.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/24733745/fig/1.jpg"], "caption": "Bone marrow smear, Giemsa stain, 400× magnification.", "detailed_caption": "Bone marrow smear (Giemsa stain, original magnification ×400) shows large numbers of intracellular and extracellular amastigotes consistent with visceral leishmaniasis", "modalities": ["pathology"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/24733745/fig/2.jpg"], "caption": "Serum analysis after storage at 4°C for five days, cryocrit=4%.", "detailed_caption": "Comparison of patient's serum with control serum after storage at 4°C for five days shows cloudy cryoprecipitate in the patient's serum with a cryocrit of 4%", "modalities": ["lab"]}], "diagnosis": "Visceral leishmaniasis", "standardized_diagnosis": [{"original_term": "Visceral leishmaniasis", "corrected_term": null, "code": "1F54.0", "title": "Visceral leishmaniasis", "chapter": "Certain infectious or parasitic diseases", "primary": true}]}, "year": 2014, "classification": "Infectious and immunologic disorders"}
+{"pmid": "24516035", "patient_info": {"basic_info": "A 67-year-old man presented with elevated white blood cell count that had persisted for several years. In April 2008, he was referred for evaluation of marked leukocytosis. He was slightly anemic with tear drop cells, hematocrit of 40.2%, and elevated platelet count. Physical examination revealed a gradually enlarging spleen. Bone marrow trephine biopsy showed megakaryocytic hyperplasia with marked fibrosis, and a repeat biopsy in April 2011 again revealed prominent myelofibrosis with increased megakaryocytes.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/24516035/fig/1.jpg"], "caption": "(A) Laboratory values over time, including WBC count, platelet count, and hemoglobin level. (B) FISH analysis. (C) Spleen size over time.", "detailed_caption": "Shows clinical course with laboratory values over time, including WBC count rising to peak levels around 2011, platelet counts, hemoglobin levels, FISH analyses photographs showing BCR and ABL transcripts (white arrows) and BCR-ABL fusion transcript (white arrowhead), and spleen size progression indicated by red arrows of increasing thickness", "modalities": ["lab", "genetic", "clinical"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/24516035/fig/2.jpg"], "caption": "(A,B) JAK2 sequence analysis. (C) JAK2 sequence analysis after treatment.", "detailed_caption": "JAK2 sequence analysis showing heterozygous G→T transversion in JAK2 (arrows in panels A and B), and demonstrates persistence of JAK2V617F mutation level after treatment (panel C, arrow)", "modalities": ["genetic"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/24516035/fig/3.jpg"], "caption": "Karyotype analysis.", "detailed_caption": "Shows karyotype analysis revealing three-way variant Philadelphia translocation (9;22;21)(q34;q11;q22) with arrows indicating the translocation", "modalities": ["genetic"]}], "diagnosis": "Primary myelofibrosis (PMF) with JAK2V617F mutation that subsequently developed chronic-phase chronic myeloid leukemia (CML) with BCR-ABL translocation", "standardized_diagnosis": [{"original_term": "Primary myelofibrosis", "corrected_term": null, "code": "2A20.2", "title": "Primary myelofibrosis", "chapter": "Neoplasms", "primary": true}, {"original_term": "Chronic myeloid leukemia", "corrected_term": null, "code": "2B33.2", "title": "chronic myeloid leukaemia", "chapter": "Neoplasms", "primary": false}]}, "year": 2014, "classification": "Neoplastic diseases"}
+{"pmid": "24759251", "patient_info": {"basic_info": "11-year-old boy who received his first black henna tattoo while on holiday in Portugal in August 2013. One week after getting the tattoo, the area became hot, red, raised and itchy. Physical exam showed bullae with clear yellow-orange discharge and golden crusting on a background of erythematous plaque.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/24759251/fig/1.jpg"], "caption": "Clinical photograph of the upper arm, performed approximately two weeks after initial black henna tattoo exposure.", "detailed_caption": "The figure displays a clinical photograph of the upper arm of an 11-year-old boy showing an impetigo-like lesion confined within the pattern of a recent black henna tattoo; the image reveals bullae with clear yellow-orange discharge and golden crusting on a background of erythematous plaque, representing allergic contact dermatitis to black henna, with sample acquisition timing approximately two weeks after initial tattoo exposure.", "modalities": ["clinical"]}], "diagnosis": "Allergic contact dermatitis to black henna", "standardized_diagnosis": [{"original_term": "Allergic contact dermatitis", "corrected_term": null, "code": "EK00.Z", "title": "Allergic contact dermatitis", "chapter": "Diseases of the skin", "primary": true}]}, "year": 2014, "classification": "Dermatologic and mucosal diseases"}
+{"pmid": "24645962", "patient_info": {"basic_info": "A 67-year-old man with advanced alcoholic cirrhosis presented with progressive dyspnea. Physical examination after thoracentesis revealed right lung crackles, and the patient developed coughing, tachypnea, and tachycardia. His oxygen saturation was 82% while breathing ambient air.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/24645962/fig/1.jpg"], "caption": "Chest radiography.", "detailed_caption": "Chest radiography showed findings suggestive of a large right pleural effusion", "modalities": ["x-ray"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/24645962/fig/2.jpg"], "caption": "CT of the chest, right lung.", "detailed_caption": "Computed tomography of the chest showed diffuse areas of consolidation and ground-glass opacity in the right lung (arrows), suggestive of reexpansion pulmonary edema", "modalities": ["ct"]}], "diagnosis": "Reexpansion pulmonary edema after thoracentesis", "standardized_diagnosis": [{"original_term": "Reexpansion pulmonary edema", "corrected_term": null, "code": "CB01", "title": "Pulmonary oedema", "chapter": "Diseases of the respiratory system", "primary": true}]}, "year": 2014, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "24764570", "patient_info": {"basic_info": "A 78-year-old man presented with an eight-week history of left-sided abdominal pain and back pain, associated with anorexia, 3 kg weight loss, and night sweats. He was previously well with no significant medical history, taking no regular medications, and was an ex-smoker. On physical examination, he was afebrile with normal baseline vital signs and present peripheral pulses. Cardiorespiratory assessment was unremarkable, and his abdomen was soft but revealed a tender, non-pulsatile palpable central mass at the level of the umbilicus. Blood results showed normochromic, normocytic anemia with hemoglobin 92 g/L (reference range 130-180), elevated erythrocyte sedimentation rate of 75 mm in the first hour (0-22), and elevated C-reactive protein of 15 mg/L (<3). Initial chest and abdominal radiographs showed no abnormalities.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/24764570/fig/1.jpg"], "caption": "CT of the abdomen at the level of the iliac crest, axial contrast-enhanced.", "detailed_caption": "Axial contrast enhanced computed tomogram at the level of the iliac crest shows aneurysmal dilation of the abdominal aorta with a thickened wall and a cuff of enhancing periaortic fibrotic tissue.", "modalities": ["ct"]}], "diagnosis": "Inflammatory abdominal aortic aneurysm", "standardized_diagnosis": [{"original_term": "Inflammatory abdominal aortic aneurysm", "corrected_term": null, "code": "BD50.4Z", "title": "Inflammatory abdominal aortic aneurysm", "chapter": "Diseases of the circulatory system", "primary": true}]}, "year": 2014, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "24620869", "patient_info": {"basic_info": "A 29-year-old man presented with a 3-week history of headaches, blurred vision, nausea, vomiting, anorexia, and weight loss of 7.3 kg. Three days before admission, he developed photophobia, diplopia, neck stiffness, tremulousness of the left hand, and somnolence, becoming mute on the day of admission. He was born in a refugee camp in Southeast Asia, immigrated to the northwestern United States at age 5, and had possibly received BCG vaccination. His history included surgery for eustachian-tube dysfunction at age 11 and a possible head injury during snowboarding 2 months prior. He had recent travel to Texas 3 weeks before admission. On examination, he was somnolent but arousable, with neck rigidity, normal pupils, inability to fully abduct the right eye on lateral gaze, right-sided lower facial weakness, and normal limb strength. Blood tests showed normal renal function, electrolytes, and C-reactive protein, with negative HIV antibodies. Chest radiograph was normal, and electrocardiogram showed sinus rhythm with non-significant ST elevations.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/24620869/tab/1.jpg"], "caption": "Laboratory results for cerebrospinal fluid and blood.", "detailed_caption": "Laboratory results showing progressive CSF abnormalities with persistently elevated protein levels (419-870 mg/dl), low glucose levels (15-41 mg/dl), elevated opening pressures, and negative microbiologic studies including PCR for various viruses, cryptococcal antigen, and mycobacterial DNA. Blood tests showed declining hematocrit and hemoglobin over time, with elevated liver enzymes by hospital day 24.", "modalities": ["lab"]}, {"type": "fig", "id": 1, "subfig": null, "path": ["images/24620869/fig/2.jpg"], "caption": "(A) Brain MRI, obtained on the first admission, gadolinium-enhanced T1-weighted sequence, sagittal view. (B–D) Brain MRI, obtained on the first admission, gadolinium-enhanced T1-weighted sequence, axial view. (E) Brain MRI, obtained on the first admission, FLAIR sequence. (F) Brain MRI, obtained on the first admission, diffusion-weighted sequence.", "detailed_caption": "MRI Images of the Brain Obtained on the First Admission. Gadolinium-enhanced, T1-weighted sagittal (Panel A) and axial (Panels B, C, and D) images show diffuse leptomeningeal enhancement that is most pronounced in the left frontal region and the basal cisterns. A fluid-attenuated inversion recovery (FLAIR) image (Panel E) and a diffusion-weighted image (Panel F) show a hyperintense lesion (arrows) in the left precentral gyrus that is consistent with a subacute ischemic focus.", "modalities": ["mri"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/24620869/fig/3.jpg"], "caption": "(A) MRI of the brain performed on the second admission, gadolinium-enhanced T1-weighted axial view. (B) MRI of the brain performed on the second admission, gadolinium-enhanced T1-weighted coronal view. (C) MRI of the brain performed on the second admission, gadolinium-enhanced T1-weighted sagittal view. (D) MRI of the brain performed on the second admission, diffusion-weighted image. (E) MRI of the brain performed on the second admission, gradient-echo image. (F) MRI of the brain performed on the second admission, FLAIR image.", "detailed_caption": "MRI Images of the Brain Obtained on the Second Admission. There is a 3.6-cm mass in the left inferior frontal lobe. Gadolinium-enhanced, T1-weighted axial (Panel A), coronal (Panel B), and sagittal (Panel C) images show that the mass has thick, irregular rim enhancement. A diffusion-weighted image (Panel D) shows restricted diffusion in the rim. A gradient-echo image (Panel E) shows foci of susceptibility, a feature consistent with hemorrhage, neovascularity, or both. A FLAIR image (Panel F) shows a moderate amount of associated edema.", "modalities": ["mri"]}], "diagnosis": "Glioblastoma, WHO grade IV of IV, involving the leptomeninges and consistent with primary leptomeningeal gliomatosis", "standardized_diagnosis": [{"original_term": "Glioblastoma", "corrected_term": null, "code": "2A00.00", "title": "glioblastoma NOS", "chapter": "Neoplasms", "primary": false}, {"original_term": "Primary leptomeningeal gliomatosis", "corrected_term": null, "code": "1D01.Z", "title": "Leptomeningitis", "chapter": "Diseases of the nervous system", "primary": true}]}, "year": 2014, "classification": "Neoplastic diseases"}
+{"pmid": "24571759", "patient_info": {"basic_info": "A 27-year-old man of Indian origin with a history of ulcerative colitis presented with diarrhea, fatigue, and significant eosinophilia. He had been in good health until 2 weeks before admission when fatigue developed. Eleven days prior to presentation, he moved to the United States from Indonesia. After arrival, he experienced bloating and nonbloody, loose bowel movements without fever, chills, vomiting, cramping, or abdominal pain, with persistent diarrhea and sharply decreased exercise tolerance. He reported weight loss of approximately 4.5 kg in recent weeks. Two years earlier, he had been diagnosed with ulcerative colitis confirmed by colonoscopy and biopsy, which responded to mesalamine treatment. His medications included mesalamine 1.2 g daily and acetaminophen as needed. He had traveled to a rural area in India in the previous month. On physical examination, vital signs were normal, the spleen tip was palpable, and an erythematous papular rash was seen on the anterior thorax. The remainder of the examination was normal.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/24571759/tab/1.jpg"], "caption": "Laboratory test results on admission.", "detailed_caption": "Laboratory findings showed marked leukocytosis with white-cell count of 145,400 per mm³ on admission (146,700 the day before), with 83% eosinophils representing an absolute eosinophil count of 120,690 per mm³. Other findings included prolonged prothrombin time (16.3 sec), low sodium (133 mmol/liter), low glucose (44 mg/dl), low albumin (3.2 g/dl), elevated alkaline phosphatase (232 U/liter), elevated aspartate aminotransferase (163 U/liter), elevated lactate dehydrogenase (322 U/liter), markedly elevated total IgG (3240 mg/dl) with elevated IgG subclasses, elevated IgE (428 U/ml), and positive antinuclear antibody at 1:1280 dilution with homogeneous pattern.", "modalities": ["lab"]}, {"type": "fig", "id": 1, "subfig": "A", "path": ["images/24571759/fig/2.jpg"], "caption": "Peripheral-blood smear.", "detailed_caption": "Peripheral-blood smear shows marked leukocytosis with a preponderance of mature eosinophils, including forms with three or four nuclear lobes and some with sparse or uneven granulation.", "modalities": ["lab"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/24571759/fig/3.jpg"], "caption": "Bone marrow biopsy.", "detailed_caption": "Bone marrow-biopsy specimen shows markedly hypercellular marrow (95% cells, 5% fat) with numerous mature and immature eosinophilic forms. Megakaryocytes had normal morphologic features.", "modalities": ["pathology"]}, {"type": "fig", "id": 1, "subfig": "C", "path": ["images/24571759/fig/4.jpg"], "caption": "Bone marrow aspirate smear.", "detailed_caption": "Smear of the bone marrow aspirate shows a preponderance of maturing eosinophils among normally granulated myeloid elements and a relative paucity of erythroid forms.", "modalities": ["pathology"]}, {"type": "fig", "id": 1, "subfig": "D", "path": ["images/24571759/fig/5.jpg"], "caption": "Rectal biopsy, no staining method specified, no magnification specified.", "detailed_caption": "Rectal-biopsy specimen shows mild gland distortion and foreshortening consistent with the patient's history of chronic inflammatory bowel disease; there is an increase in eosinophil numbers in the lamina propria but no evidence of active colitis or crypt injury.", "modalities": ["pathology"]}, {"type": "fig", "id": 1, "subfig": "E", "path": ["images/24571759/fig/6.jpg"], "caption": "(E) Gastric biopsy, H&E staining.", "detailed_caption": "E: The gastric biopsy, as shown in subfigure E of Figure 1 on page 5, is a histopathological section demonstrating foci of eosinophilic infiltration in the lamina propria without evidence of active gastritis; the specimen was obtained using routine biopsy and is stained with hematoxylin and eosin (H&E), and no specific magnification is indicated in the caption or text.", "modalities": ["pathology"]}], "diagnosis": "Idiopathic hypereosinophilic syndrome", "standardized_diagnosis": [{"original_term": "Idiopathic hypereosinophilic syndrome", "corrected_term": null, "code": "4B03.Z", "title": "Idiopathic hypereosinophilic syndrome", "chapter": "Diseases of the immune system", "primary": true}]}, "year": 2014, "classification": "Infectious and immunologic disorders"}
+{"pmid": "24752054", "patient_info": {"basic_info": "43-year-old, previously healthy Hispanic woman presented with a 2-week history of ataxia, diplopia, and headaches. Neurologic examination failed to show any focal deficit.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/24752054/fig/1.jpg"], "caption": "MRI of the brain, pineal gland region, mass size 3.4 cm × 2.1 cm × 2.4 cm.", "detailed_caption": "MRI of the brain showed a homogeneous, brightly enhancing, 3.4 cm × 2.1 cm × 2.4 cm lobulated mass within the pineal gland", "modalities": ["mri"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/24752054/fig/2.jpg"], "caption": "(A) Pineal gland tumor section, H&E staining, 100× magnification. (B) Pineal gland tumor section, H&E staining, 400× magnification. (C) Immunohistochemical staining for desmin, pineal gland tumor section. (D) Immunohistochemical staining for muscle-specific actin, pineal gland tumor section.", "detailed_caption": "A: Hematoxylin and eosin-stained section of the pineal gland tumor at 100× magnification demonstrates a malignant neoplasm with spindle cell proliferation and frequent large polygonal tumor cells with rhabdomyoblastic differentiation. B: Hematoxylin and eosin-stained section at 400× magnification reveals greater cellular detail, highlighting the pleomorphic nature of tumor cells. C: Immunohistochemical staining for desmin shows strong cytoplasmic positivity in tumor cells, supporting myogenic differentiation. D: Immunohistochemical staining for muscle-specific actin demonstrates positive cytoplasmic staining in tumor cells, further confirming skeletal muscle lineage.", "modalities": ["pathology"]}], "diagnosis": "Primary pineal gland rhabdomyosarcoma", "standardized_diagnosis": [{"original_term": "Pineal gland rhabdomyosarcoma", "corrected_term": null, "code": "2B55.Z", "title": "Rhabdomyosarcoma, primary site", "chapter": "Neoplasms", "primary": true}]}, "year": 2016, "classification": "Neoplastic diseases"}
+{"pmid": "24789276", "patient_info": {"basic_info": "A 68-year-old woman presented to the ENT clinic with gradually worsening bilateral hearing loss over at least the past five years. She experienced some non-intrusive tinnitus but had no other otological symptoms, no history of vertigo, and no associated systemic problems. She found herself increasing the TV volume to uncomfortable levels for her family and had begun avoiding social situations due to difficulty hearing conversation among background noise. Her medical history was unremarkable except for well-controlled hypertension treated with amlodipine. She had no history of excessive noise exposure, previous otological problems, or relevant family history. Physical examination revealed normal ear canals and tympanic membranes bilaterally, and tympanometry was normal in both ears.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/24789276/fig/1.jpg"], "caption": "Pure tone audiogram.", "detailed_caption": "Pure tone audiogram showing bilateral symmetrical sensorineural hearing loss with air conduction thresholds marked by 'x' for left ear and 'o' for right ear, and unmasked bone conduction thresholds marked by triangles. The hearing loss demonstrates a characteristic 'ski slope' pattern with gradual deterioration as frequency increases, showing mild hearing loss at lower frequencies progressing to severe-to-profound hearing loss at higher frequencies. The lack of significant air-bone gap indicates sensorineural rather than conductive hearing loss.", "modalities": ["electrophysiology"]}], "diagnosis": "Age-related hearing loss (presbycusis)", "standardized_diagnosis": [{"original_term": "Age-related hearing loss", "corrected_term": null, "code": "AB54", "title": "age-related hearing loss", "chapter": "Diseases of the ear or mastoid process", "primary": true}]}, "year": 2014, "classification": "Neurological disorders"}
+{"pmid": "24733791", "patient_info": {"basic_info": "A 61-year-old obese woman (BMI 53 kg/m²) with a history of benign breast mass and lumpectomy 15 years prior presented to her primary care physician with a breast lump beneath the left breast, described as dime-sized, mobile, non-tender, and not warm. She reported several months of fatigue but denied fevers, chills, sweats, weight loss, appetite changes, bruising, bleeding, breast pain, or nipple discharge or inversion. Her gynecologic history included menarche at age 14, single pregnancy at age 30, and menopause at age 49. She had a 20-pack-year smoking history but had quit many years prior. Her last mammogram 7 years earlier was normal. Physical examination revealed a 2×3-cm nontender, firm mass under the left breast at 5 o'clock position, approximately 3 cm from the areola, and a 2-cm lymph node in the anterior left axilla. Her CBC was unremarkable.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/24733791/fig/1.jpg"], "caption": "Hematoxylin and eosin staining, histology.", "detailed_caption": "Histology shows areas of geographic necrosis and tingible body macrophages creating a starry sky appearance, with diffuse infiltrate of immature cells having round oval nuclei, vesicular chromatin, visible nucleoli, and scant cytoplasm on hematoxylin and eosin staining.", "modalities": ["pathology"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/24733791/fig/2.jpg"], "caption": "Tumor tissue, lysozyme staining.", "detailed_caption": "Shows positive lysozyme staining of the tumor tissue.", "modalities": ["pathology"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/24733791/fig/3.jpg"], "caption": "(A) PET-CT. (B) PET-CT, left axillary node. (C) PET-CT, subcutaneous masses beneath left breast and right abdominal wall.", "detailed_caption": "PET-CT imaging shows three soft tissue masses with moderately increased fluorodeoxyglucose avidity (A), a left axillary node (B), and subcutaneous masses beneath the left breast and on the right abdominal wall (C).", "modalities": ["ct", "pet/spect/nuclear"]}], "diagnosis": "Myeloid sarcoma with myelomonocytic differentiation", "standardized_diagnosis": [{"original_term": "Myeloid sarcoma", "corrected_term": null, "code": "2A60.39", "title": "Myeloid sarcoma", "chapter": "Neoplasms", "primary": true}]}, "year": 2016, "classification": "Neoplastic diseases"}
+{"pmid": "24752059", "patient_info": {"basic_info": "72-year-old woman with increased peripheral WBC count (15.6 × 109/L) found during routine medical examination in early 2012. History of lung cancer operation in 2007. WBC differential showed: blasts (1%), myelocytes (12%), metamyelocytes (3%), band-form neutrophils (2%), segmented neutrophils (63%), basophils (1%), eosinophils (1%), monocytes (4%), and lymphocytes (13%). Hemoglobin 14.8 g/dL and platelet count 170 × 109/L were normal. Elevated serum lactate dehydrogenase (818 U/L). No splenomegaly or lung cancer recurrence on systemic CT. Bone marrow showed myeloid cell proliferation (72.0%) with promyelocytes 8.4%, myelocytes 12.0%, metamyelocytes 8.0%, band-form neutrophils 35.6%, segmented neutrophils 5.6%, increased eosinophils (8.0%), blasts 2.4%, and basophils 1.6%.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/24752059/fig/1.jpg"], "caption": "Fluorescent in situ hybridization (FISH) of peripheral interphase neutrophils, BCR-ABL1 fusion: single fusion in 14%, dual fusions in 82%.", "detailed_caption": "Fluorescent in situ hybridization showed single BCR-ABL1 fusion (14%) and dual BCR-ABL1 fusions (82%) in peripheral interphase neutrophils", "modalities": ["pathology", "genetic"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/24752059/fig/2.jpg"], "caption": "Genetic analysis of bone marrow chromosomal karyotype: 47,XX, t(9;22)(q34;q11.2), +der(22)(9;22).", "detailed_caption": "Bone marrow chromosomal analysis revealed 47,XX, t(9;22)(q34;q11.2), +der(22)(9;22) in all 20 analyzed mitotic cells", "modalities": ["genetic"]}], "diagnosis": "Chronic-phase Chronic Myeloid Leukemia (CML) with e19a2 BCR-ABL1 transcript and double Philadelphia chromosome", "standardized_diagnosis": [{"original_term": "Chronic-phase chronic myeloid leukemia", "corrected_term": null, "code": "2B33.2", "title": "chronic myeloid leukaemia", "chapter": "Neoplasms", "primary": true}, {"original_term": "Double Philadelphia chromosome", "corrected_term": null, "code": "9D46", "title": "Double vision", "chapter": "Diseases of the visual system", "primary": false}]}, "year": 2016, "classification": "Neoplastic diseases"}
+{"pmid": "24814091", "patient_info": {"basic_info": "27-year-old woman with history of emergency caesarean section 3 weeks prior and post-operative wound infection treated with 7-day course of cefuroxime and metronidazole (completed 12 days before current admission). Presented with 3-day history of fever, diarrhea, and vomiting. On examination, patient was clinically septic. Stool culture confirmed Clostridium difficile toxin.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A,B", "path": ["images/24814091/fig/1.jpg"], "caption": "(A) CT, axial view, colon. (B) CT, coronal view, colon.", "detailed_caption": "Axial (A) and coronal (B) CT images showing marked submucosal oedema of the entire colon, and intramural air locules (arrows)", "modalities": ["ct"]}], "diagnosis": "Clostridium difficile pancolitis", "standardized_diagnosis": [{"original_term": "Clostridium difficile pancolitis", "corrected_term": null, "code": "DD71.0", "title": "pancolitis NOS", "chapter": "Diseases of the digestive system", "primary": true}]}, "year": 2014, "classification": "Infectious and immunologic disorders"}
+{"pmid": "24846040", "patient_info": {"basic_info": "A 92-year-old man presented with iron-deficiency anemia. During evaluation, guaiac-positive stools were discovered and subsequent colonoscopy revealed an invasive adenocarcinoma of the cecum. He was scheduled for laparoscopic right hemicolectomy. Preoperative stress echocardiogram showed no significant cardiac dysfunction. On the third postoperative day, he developed paroxysmal tachycardia without chest pain or mental status changes. Physical examination revealed a pulse of 130/min that was irregularly irregular, blood pressure of 126/59 mm Hg, and diminished breath sounds in bibasilar lung fields. The abdomen was soft with clean laparoscopy port sites free of erythema, blood, or exudate. A bedside 12-lead electrocardiogram showed atrial fibrillation with rapid ventricular response and no ST-segment elevation. Portable chest x-ray demonstrated pulmonary edema.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/24846040/tab/1.jpg"], "caption": "Laboratory results.", "detailed_caption": "Laboratory values showed hemoglobin 7.4 g/dL (reference 13.5-17.1), serum creatinine 1.4 mg/dL (reference 0.5-1.3), serum troponin I 1500 ng/L (reference <100), and B-type natriuretic peptide 311 pg/mL (reference <100).", "modalities": ["lab"]}], "diagnosis": "Congestive heart failure with volume overload", "standardized_diagnosis": [{"original_term": "Congestive heart failure", "corrected_term": null, "code": "BD10", "title": "Congestive heart failure", "chapter": "Diseases of the circulatory system", "primary": true}, {"original_term": "Volume overload", "corrected_term": null, "code": "5C78", "title": "Fluid overload", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": false}]}, "year": 2014, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "24670171", "patient_info": {"basic_info": "This case a 45-year-old man who presented with acute illness after dog bites. The patient was well until 2 p.m. the day before admission when he developed nausea, epigastric pain, and vomiting. Three days before presentation, he had been bitten on his hands and forearms while bathing his dog. He also had head trauma from a rusty nail a few days before presentation and dental extractions 1-2 weeks prior. His medical history included asthma, mild chronic obstructive pulmonary disease, anxiety, depression, chronic back pain, and alcohol abuse with recent consumption up to 18 beers daily (stopped 3 days before admission). Physical examination revealed an ill-appearing, anxious, diaphoretic man with temperature 35.6°C, blood pressure 154/102 mmHg, pulse 110 bpm, respiratory rate 28 breaths per minute, and oxygen saturation 100% on room air. Numerous lacerations with necrotic edges and scratch marks were present on his hands and forearms, with the largest mark on his right forearm (3-4 cm in length) having a surrounding border (5-7 cm in diameter) with a purplish tinge. Capillary refill occurred in 5 seconds.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/24670171/fig/1.jpg"], "caption": "Clinical photographs of the fingers, abdomen, flank, arms, and legs.", "detailed_caption": "Photographs show the patient's fingers appeared slightly blue, there was mottling of skin on abdomen and flank, and diffuse, purple, blanching livedo extended over his arms and legs.", "modalities": ["clinical"]}, {"type": "tab", "id": 1, "subfig": null, "path": ["images/24670171/tab/2.jpg"], "caption": "Laboratory results over 3 days.", "detailed_caption": "Laboratory results show progressive changes over 3 days including leukocytosis with increasing bandemia, anemia, thrombocytopenia, coagulopathy with elevated D-dimer, markedly elevated aminotransferases, lactic acidosis, acute kidney injury with rising creatinine, and elevated troponin T levels.", "modalities": ["lab"]}, {"type": "fig", "id": 2, "subfig": "A", "path": ["images/24670171/fig/3.jpg"], "caption": "Chest radiograph, frontal view.", "detailed_caption": "Frontal chest radiograph shows interstitial opacities and bilateral hilar fullness consistent with pulmonary edema, with new blunting of left costophrenic angle and hazy opacity in left lower lobe consistent with pleural effusion.", "modalities": ["x-ray"]}, {"type": "fig", "id": 2, "subfig": "B", "path": ["images/24670171/fig/4.jpg"], "caption": "Radiographs of the right hand and forearm.", "detailed_caption": "Radiographs of right hand and forearm show soft-tissue reticulation consistent with edema but no soft-tissue gas.", "modalities": ["x-ray"]}, {"type": "fig", "id": 3, "subfig": "A", "path": ["images/24670171/fig/5.jpg"], "caption": "Gram staining of organism isolated from blood cultures.", "detailed_caption": "Gram's staining of organism isolated from blood cultures reveals long, thin, gram-negative bacilli with tapered ends, characteristic of Capnocytophaga canimorsus.", "modalities": ["lab", "pathology"]}], "diagnosis": "Bacteremia and purpura fulminans due to Capnocytophaga canimorsus", "standardized_diagnosis": [{"original_term": "Bacteremia", "corrected_term": null, "code": "MA15.0", "title": "Bacteraemia", "chapter": "Symptoms, signs or clinical findings, not elsewhere classified", "primary": false}, {"original_term": "Purpura fulminans", "corrected_term": null, "code": "3B20", "title": "Purpura fulminans", "chapter": "Diseases of the skin", "primary": true}]}, "year": 2014, "classification": "Infectious and immunologic disorders"}
+{"pmid": "24888801", "patient_info": {"basic_info": "A previously healthy 62-year-old man presented to his primary care physician with a 3-month history of fatigue and unremitting back pain. Physical examination revealed mucosal pallor and point tenderness at T10-T12, with a normal neurologic examination including preserved lower extremity strength and sphincter tone. Laboratory work-up disclosed hemoglobin 10.1 g/dL with mean corpuscular volume of 101 fL and otherwise normal blood cell counts, reticulocytes 0.98%, stable creatinine 1.1 mg/dL, calcium 9.1 mg/dL, albumin 3.4 g/dL, β₂-microglobulin 5.7 mg/L, lactate dehydrogenase (LDH) 397 IU/L, and normal liver function tests. Serum protein electrophoresis (SPEP) demonstrated a 3.5 g/dL monoclonal peak in the gamma region, with monoclonal immunoglobulin G and lambda light chain detected on immunofixation. Serum free light chain (sFLC) ratio was 0.0001. Twenty-four-hour urine protein electrophoresis (UPEP) was normal. Congo red stain on bone marrow biopsy and fat pad aspirate was negative for amyloid light-chain deposition.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/24888801/fig/1.jpg"], "caption": "(A) Bone marrow biopsy, H&E staining, 20× magnification. (B) Bone marrow aspirate, Wright-Giemsa staining, 100× magnification. (C) Bone marrow aspirate, interphase FISH.", "detailed_caption": "(A) Low-power ( 20) magnification of a hematoxylin-eosin bone marrow biopsy from a patient with newly diagnosed multiple myeloma (MM). (B) High-power magnification ( 100) of a Wright-Giemsa stain of bone marrow aspirate from the same patient showing typical features of MM cells, including clumped chromatin and perinuclear pallor corresponding to Golgi apparatus (images courtesy of Dr Andrew Evans). (C) Interphase fluorescent in situ hybridization of a bone marrow aspirate from a patient with t(4;14) MM (arrows; image courtesy of Dr Paola Dal Cin and Cynthia J. McLaughlin).", "modalities": ["pathology", "genetic"]}], "diagnosis": "High-risk, International Staging System stage III immunoglobulin G lambda multiple myeloma (MM) with t(4;14) translocation", "standardized_diagnosis": [{"original_term": "Multiple myeloma", "corrected_term": null, "code": "2A83.1", "title": "multiple myeloma", "chapter": "Neoplasms", "primary": true}]}, "year": 2014, "classification": "Neoplastic diseases"}
+{"pmid": "24567434", "patient_info": {"basic_info": "patient is a 51-year-old man who presented with a general seizure. The patient was initially diagnosed with a mixed diffuse glioma and underwent subtotal resection with postoperative radiochemotherapy. Five years after diagnosis, he underwent contrast-enhanced fluorescence imaging-guided tumor reresection, which led to a subsequent diagnosis of glioblastoma multiforme (GBM). Two years later, follow-up MRI revealed recurrent tumor. After completing radiochemotherapy, the patient was hospitalized for progressive dyspnea. A chest X-ray revealed pleural effusion requiring thoracic drainage.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/24567434/fig/1.jpg"], "caption": "Coronal T1-weighted postcontrast cranial MRI.", "detailed_caption": "Coronal T1-weighted postcontrast cranial MRI demonstrated an enhancing left parietal mass involving small venules from the superior sagittal sinus", "modalities": ["mri"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/24567434/fig/2.jpg"], "caption": "Axial cranial MRI, T2-weighted sequence.", "detailed_caption": "Axial T2-weighted cranial MRI demonstrated an enhancing left parietal mass involving small venules from the superior sagittal sinus", "modalities": ["mri"]}, {"type": "fig", "id": 1, "subfig": "C", "path": ["images/24567434/fig/3.jpg"], "caption": "CT of the chest, axial view, contrast-enhanced.", "detailed_caption": "Axial contrast-enhanced computed tomography demonstrated an ill-defined 4-cm mass in the left lower lung lobe and pleural metastases with infiltration of the chest wall", "modalities": ["ct"]}, {"type": "fig", "id": 1, "subfig": "D", "path": ["images/24567434/fig/4.jpg"], "caption": "Pleural biopsy, H&E staining, 200× magnification.", "detailed_caption": "Histologic examination of the pleural biopsy sample with hematoxylin and eosin staining (×200 original magnification) revealed a malignant astrocytic glioma", "modalities": ["pathology"]}, {"type": "fig", "id": 1, "subfig": "E", "path": ["images/24567434/fig/5.jpg"], "caption": "CT scan.", "detailed_caption": "CT imaging showed pleural metastases and destruction of a ventrolateral left rib", "modalities": ["ct"]}], "diagnosis": "Glioblastoma multiforme with pleural and pulmonary metastases", "standardized_diagnosis": [{"original_term": "Glioblastoma multiforme", "corrected_term": null, "code": "2A00.00", "title": "Glioblastoma multiforme of brain", "chapter": "Neoplasms", "primary": true}, {"original_term": "Pleural metastases", "corrected_term": null, "code": "2D72", "title": "pleura metastasis", "chapter": "Neoplasms", "primary": false}, {"original_term": "Pulmonary metastases", "corrected_term": null, "code": "2D70", "title": "metastasis in lung", "chapter": "Neoplasms", "primary": false}]}, "year": 2014, "classification": "Neoplastic diseases"}
+{"pmid": "24840913", "patient_info": {"basic_info": "An 83-year-old woman presented to the acute stroke unit with sudden onset double vision that had lasted for three hours. She had a medical history of monoclonal gammopathy of uncertain significance and atrial fibrillation, for which she was not receiving anticoagulation because of an adverse reaction to warfarin. She had no history of transient ischaemic attack or stroke. She had diplopia only when looking through her right eye. On examination, she was unable to adduct her left eye, with nystagmus in her right eye when she attempted to do this. Her neurological examination was otherwise normal.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/24840913/fig/1.jpg"], "caption": "T2-weighted MRI at the level of the upper pons.", "detailed_caption": "T2 weighted sequence at the level of the upper pons showing normal appearance", "modalities": ["mri"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/24840913/fig/2.jpg"], "caption": "Diffusion weighted MRI of the brain, axial view at the level of the upper pons.", "detailed_caption": "Diffusion weighted sequence at the level of the upper pons showing a small hyperintense lesion in the left upper pons, in the region of the medial longitudinal fasciculus, representing a small area of restricted diffusion in the left upper pontine tegmentum", "modalities": ["mri"]}], "diagnosis": "Left internuclear ophthalmoplegia caused by acute posterior circulation infarct", "standardized_diagnosis": [{"original_term": "Left internuclear ophthalmoplegia", "corrected_term": null, "code": "9C83.5&XK8G", "title": "Internuclear ophthalmoplegia[Left]", "chapter": "Diseases of the visual system", "primary": false}, {"original_term": "Acute posterior circulation infarct", "corrected_term": null, "code": "DD30.Z", "title": "acute intestinal infarction NOS", "chapter": "Diseases of the digestive system", "primary": true}]}, "year": 2014, "classification": "Neurological disorders"}
+{"pmid": "24645948", "patient_info": {"basic_info": "A 34-year-old woman presented with a 4-month history of progressive dyspnea. Prior to admission, she had been well until 4 months ago when shortness of breath developed, followed by nocturnal awakening with chest tightness, fever, cough, and dyspnea on exertion 3 months before admission. She reported significant weight fluctuations - an intentional loss of more than 45 kg over 14 months, followed by 10 kg weight gain over the past 4.5 months. She had a 3-year history of symmetric joint pains affecting knees, elbows, metacarpal and proximal interphalangeal joints that were worse in the morning, along with Raynaud's phenomenon for 1.5 years and eczema since age 14. Additional symptoms included productive cough with white mucus, dry mouth for 3 months, heartburn, mild dysphagia, intermittent abdominal pain, diarrhea, hair thinning, early satiety, decreased appetite, hoarseness, and leg swelling. She was married with children, lived in various regions of the US, and had no substance use. Family history included maternal hyperlipidemia and thyroid disease. On examination, she appeared uncomfortable with persistent cough, blood pressure 158/120 mmHg and later 201/147 mmHg, pulse 115 beats per minute, oxygen saturation 98-99% on ambient air, height 171.5 cm, weight 91.6 kg, BMI 31. Physical findings included jugular venous distension to 10 cm above right atrium, distant heart sounds without murmur, cervical and supraclavicular lymphadenopathy, swollen left proximal interphalangeal joint, leg edema to knees, and a 1x1 cm violaceous macule on left inner thigh. Normal complete blood count except for red-cell distribution width of 18.1%, peripheral blood smear showed 2+ anisocytosis and hypochromasia, and normal coagulation, liver function, electrolytes, and various vitamin levels.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/24645948/fig/1.jpg"], "caption": "(A) Echocardiography, parasternal long-axis view. (B) Echocardiography, M-mode tracing in the parasternal short-axis view at the base of the heart. (C) Echocardiography, parasternal short-axis view at the midventricular level. (D) Echocardiography, apical four-chamber view.", "detailed_caption": "The parasternal long-axis view shows a mild-to-moderate pericardial effusion (Panel A, arrow) and thickened left ventricular (LV) walls, features suggestive of left ventricular hypertrophy. An M-mode tracing of the posterior pulmonary valve leaflet in the parasternal short-axis view at the base of the heart (Panel B) shows systolic notching (arrow), known as the “flying W sign,” which indicates pulmonary hypertension. In the parasternal short-axis view at the midventricular level (Panel C), interventricular septal flattening (arrow) during systole, known as the “D sign,” is a finding consistent with increased pressure in the right ventricle (RV); pericardial effusion is also evident (arrow-head). The apical four-chamber view (Panel D) shows an enlarged right atrium (RA) and right ventricle relative to the left heart chambers. LA denotes left atrium.", "modalities": ["ultrasound"]}, {"type": "tab", "id": 1, "subfig": null, "path": ["images/24645948/tab/2.jpg"], "caption": "Laboratory results.", "detailed_caption": "Laboratory results showed elevated C-reactive protein at 14.0 mg/liter (normal <8.0), low C3 at 45 mg/dl (normal 86-184), low C4 at 5 mg/dl (normal 16-38), elevated N-terminal pro-B-type natriuretic peptide at 2509 pg/ml (normal 0-450 for age <50), positive antinuclear antibody at >1:5120 dilution with speckled nuclear pattern (normal negative at 1:40 and 1:60), negative anti-cyclic citrullinated peptide IgG antibodies at 6 U (normal 0-19), and negative anti-double-stranded DNA antibodies at 1:10 dilution.", "modalities": ["lab"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/24645948/fig/3.jpg"], "caption": "(A) Chest radiograph. (B) Pulmonary CT angiogram, axial view, main pulmonary artery diameter=3.8 cm. (C) Pulmonary CT angiogram, axial view. (D) Pulmonary CT angiogram, coronal view.", "detailed_caption": "A chest radiograph (Panel A) shows enlargement of the main pulmonary artery and of the right and left pulmonary arteries. There is peripheral pruning of the pulmonary vessels, with enlargement of the right atrium. An axial image from a pulmonary CT angiogram (CTA) confirms enlargement of the main pulmonary artery, which measures 3.8 cm just proximal to its bifurcation (Panel B). In another axial image from the CTA, hypertrophy of the right ventricular wall, flattening of the interventricular septum, and right atrial enlargement (Panel C) are seen. A coronal image from the CTA (Panel D) shows reflux of contrast material into the inferior vena cava and hepatic veins (black arrow), with a small pericardial effusion (arrowhead); multiple enlarged left axillary lymph nodes are present (white arrow). There is no mediastinal or hilar lymphadenopathy.", "modalities": ["x-ray", "ct", "angiography"]}, {"type": "tab", "id": 2, "subfig": null, "path": ["images/24645948/tab/4.jpg"], "caption": "Right heart catheterization, hemodynamic measurements.", "detailed_caption": "Right heart catheterization demonstrated severe pulmonary hypertension with elevated right atrial pressure at 18 mmHg (normal 1-6), pulmonary artery pressure 74/33 mmHg with mean 52 mmHg (normal 15-25/4-12 with mean <25), normal pulmonary capillary wedge pressure at 5 mmHg (normal 4-12), severely reduced mixed venous oxygen saturation at 32%, markedly reduced cardiac output at 2.93 liters/min (normal 4-6), and elevated pulmonary vascular resistance at 1283 dyn·sec·cm⁻⁵ (normal <240).", "modalities": ["electrophysiology"]}], "diagnosis": "Systemic inflammatory rheumatic disease identified as U1-ribonucleoprotein-associated mixed connective-tissue disease", "standardized_diagnosis": [{"original_term": "Systemic inflammatory rheumatic disease", "corrected_term": null, "code": "ME83", "title": "Rheumatism, unspecified", "chapter": "Symptoms, signs or clinical findings, not elsewhere classified", "primary": false}, {"original_term": "Mixed connective-tissue disease", "corrected_term": null, "code": "4A43.3", "title": "Mixed connective tissue disease", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": true}]}, "year": 2014, "classification": "Orthopedic and connective tissue disorders"}
+{"pmid": "24915265", "patient_info": {"basic_info": "A 25-year-old woman with type 2 diabetes mellitus presented to the emergency department for evaluation of a hyperpigmented lesion on the shin. The lesion appeared as a small reddish-brown macule 3 years ago and has gradually increased in size. During the past several months, the lesion has become indented and increasingly tender. The patient denies systemic symptoms, including fevers and chills, and is primarily concerned about the changing appearance of the lesion and the new-onset tenderness. Laboratory evaluation shows a random blood glucose level of 217 mg/dL (12 mmol/L).", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/24915265/fig/1.jpg"], "caption": "Clinical photograph of the shin during emergency department presentation.", "detailed_caption": "Figure 1 is a clinical photograph depicting a 3-cm sclerotic reddish brown macular lesion with central yellow deposits located on the shin, as seen during cutaneous examination at the time of emergency department presentation.", "modalities": ["clinical"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/24915265/fig/2.jpg"], "caption": "(A) Skin biopsy, H&E staining, 4× magnification. (B) Skin biopsy, H&E staining, 40× magnification.", "detailed_caption": "Skin biopsy. A: Layered dermal necrobiosis and inflammatory infiltrate extending to the deep dermis (hematoxylin-eosin, original magnification x4). B: Dermal necrobiosis (hematoxylin-eosin, original magnification x40).", "modalities": ["pathology"]}], "diagnosis": "Necrobiosis lipoidica", "standardized_diagnosis": [{"original_term": "Necrobiosis lipoidica", "corrected_term": null, "code": "EE80.1", "title": "Necrobiosis lipoidica", "chapter": "Diseases of the skin", "primary": true}]}, "year": 2014, "classification": "Dermatologic and mucosal diseases"}
+{"pmid": "24893091", "patient_info": {"basic_info": "A 72-year-old man with a 23-year history of polycythemia vera presented with a 2-week history of left upper quadrant pain. Three years earlier, red cell scintigraphy had documented a splenic hemangioma, which remained stable on periodic computed tomography scans. He had no history of abdominal trauma, melena, or hematochezia. The patient had lost 6.75 kg (15 lb) and experienced increasing fatigue during a period of 1 month. On physical examination, vital signs were normal. The spleen edge was palpable 6 cm below the left costal margin (increased from 1 month prior). There was no hepatomegaly or lymphadenopathy. On rectal examination there was no gross blood, and no stool was available to perform a guaiac test. Laboratory studies showed a hemoglobin level of 6.8 g/dL (from 12 g/dL 2 months earlier and 8 g/dL 1 week earlier), white blood cell count of 15.76 × 10^9/L, and platelet count of 266 × 10^9/L.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/24893091/fig/1.jpg"], "caption": "(A) CT of the abdomen, axial view. (B) CT of the abdomen, coronal view.", "detailed_caption": "Computed tomography scan of the abdomen. A, Axial view. B, Coronal view.", "modalities": ["ct"]}], "diagnosis": "Spontaneous atraumatic splenic rupture with subcapsular hematoma and hemorrhage in the left pericolic and perihepatic areas, secondary to splenic angiosarcoma", "standardized_diagnosis": [{"original_term": "Splenic angiosarcoma", "corrected_term": null, "code": "2B56.1", "title": "Cutaneous angiosarcoma", "chapter": "Neoplasms", "primary": true}, {"original_term": "Spontaneous splenic rupture", "corrected_term": null, "code": "NB91.0Y", "title": "traumatic spontaneous spleen rupture", "chapter": "Injury, poisoning or certain other consequences of external causes", "primary": false}, {"original_term": "Splenic subcapsular hematoma", "corrected_term": null, "code": "DB98.A", "title": "subcapsular liver hematoma", "chapter": "Diseases of the digestive system", "primary": false}, {"original_term": "Hemorrhage in the left pericolic area", "corrected_term": null, "code": "1A40.0&XA03U9&XT5R", "title": "haemorrhagic colitis", "chapter": "Certain infectious or parasitic diseases", "primary": false}, {"original_term": "Hemorrhage in the perihepatic area", "corrected_term": null, "code": "MG27", "title": "Haemorrhage NOS", "chapter": "Symptoms, signs or clinical findings, not elsewhere classified", "primary": false}]}, "year": 2014, "classification": "Neoplastic diseases"}
+{"pmid": "24642766", "patient_info": {"basic_info": "A 52-year-old woman was referred to the hospital with abnormal chest radiographs. She was completely asymptomatic and denied having any cough, wheezing, or hemoptysis. Her past medical history was unremarkable and physical examination findings were normal. Laboratory examination revealed hemoglobin 14.1 g/dL, white blood cell count 8160/μL (61.7% neutrophils, 31.1% lymphocytes, 2.6% eosinophils, 4.4% monocytes, 0.2% basophils), and platelet count 209,000/μL. Urine analysis findings, blood chemistry findings, and erythrocyte sedimentation rates were normal. Pulmonary function test showed mild restrictive patterns. Bronchoscopy revealed no endobronchial lesion, and bronchoalveolar lavage results were negative for malignant cells. Transbronchial lung biopsy identified thick varicose septal veins and intraalveolar macrophages.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/24642766/fig/1.jpg"], "caption": "Chest radiograph, posteroanterior view.", "detailed_caption": "Posteroanterior chest radiograph showed increased interstitial markings in both lungs.", "modalities": ["x-ray"]}, {"type": "fig", "id": 1, "subfig": "B, C", "path": ["images/24642766/fig/2.jpg"], "caption": "CT scan.", "detailed_caption": "Initial CT scan demonstrated diffuse, smooth, and nodular interlobular septal thickening, and minimal amounts of bilateral pleural effusion.", "modalities": ["ct"]}, {"type": "fig", "id": 1, "subfig": "D", "path": ["images/24642766/fig/3.jpg"], "caption": "CT of the mediastinum.", "detailed_caption": "CT showed low-density infiltration of mediastinal fat and lymph node enlargement in the right anterior diaphragmatic area.", "modalities": ["ct"]}, {"type": "fig", "id": 1, "subfig": "E, F", "path": ["images/24642766/fig/4.jpg"], "caption": "CT of the chest performed seven months after initial examination.", "detailed_caption": "Follow-up chest CT scan taken seven months later revealed increased interstitial septal thickening.", "modalities": ["ct"]}, {"type": "fig", "id": 1, "subfig": "G", "path": ["images/24642766/fig/5.jpg"], "caption": "CT.", "detailed_caption": "Follow-up CT showed new peribronchovascular cuffing and small amounts of bilateral pleural effusion.", "modalities": ["ct"]}, {"type": "fig", "id": 1, "subfig": "H", "path": ["images/24642766/fig/6.jpg"], "caption": "Clinical photograph of the lung taken intra-operatively.", "detailed_caption": "Intra-operative photograph showing abnormal hypervascularity noted on the lung surface.", "modalities": ["clinical"]}, {"type": "fig", "id": 1, "subfig": "I", "path": ["images/24642766/fig/7.jpg"], "caption": "Hematoxylin and eosin-stained section of lung tissue, 200× magnification.", "detailed_caption": "I: Hematoxylin and eosin-stained section of lung tissue showing proliferation of thin-walled, anastomosing lymphatic vessels lined by a single layer of endothelial cells lacking cytological atypia, located along the lymphatic distribution, at 200x magnification.", "modalities": ["pathology"]}, {"type": "fig", "id": 1, "subfig": "J", "path": ["images/24642766/fig/8.jpg"], "caption": "(J) Immunohistochemical staining with D2-40 of lung tissue, 200× magnification.", "detailed_caption": "J: Immunohistochemical staining with D2-40 of lung tissue at 200x magnification demonstrates proliferative lymphatic channels characteristic of diffuse pulmonary lymphangiomatosis, with the anatomical site being the lung and the stain specifically highlighting lymphatic vessels.", "modalities": ["pathology"]}], "diagnosis": "Diffuse pulmonary lymphangiomatosis (DPL)", "standardized_diagnosis": [{"original_term": "Diffuse pulmonary lymphangiomatosis", "corrected_term": null, "code": "LA75.Y", "title": "Pulmonary lymphangiomatosis", "chapter": "Diseases of the respiratory system", "primary": true}]}, "year": 2014, "classification": "Neoplastic diseases"}
+{"pmid": "24497809", "patient_info": {"basic_info": "A 52-year-old female presented with an abdominal lump of 6-month duration. She had a history of left eye surgery five years prior following sudden onset loss of vision, resulting in permanent vision loss in the left eye. Her younger son (age 28) had undergone similar eye surgery for unilateral vision loss. On examination, she was normotensive with no perception of light in the left eye while right eye visual acuity was normal. A secondary cataract prevented evaluation of the left posterior chamber. No cerebellar signs were present. Abdominal examination revealed a large lump in the right upper and lower quadrant. Complete hemogram, renal function tests, and liver function tests were normal. Serum and urinary catecholamine levels were normal.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A, D", "path": ["images/24497809/fig/1.jpg"], "caption": "(A) Contrast-enhanced CT of the abdomen, transaxial view, pancreatic body and tail region, mass size 9.6 × 7.4 × 5.4 cm. (D) Contrast-enhanced CT of the abdomen, transaxial view, left renal interpolar region, mass size 7.8 × 5.8 × 5.1 cm.", "detailed_caption": "Transaxial contrast enhanced CT (A) of abdomen show large (9.6 x 7.4 x 5.4 cm) mass lesion in region of body and tail of pancreas with intense post contrast enhancement (arrow). Multiple cysts of varying sizes are noted in rest of pancreas (asterix). Also, note tortuous blood vessels in peripancreatic and perisplenic location. Transaxial contrast enhanced CT (D) of abdomen also shows another mass (7.8 x 5.8 x 5.1 cm) arising from interpolar region of left kidney and showing intense post contrast enhancement (arrow). Multiple feeding vessels are seen to arise from left renal artery and supply mass. Also noted are bilateral multiple renal cortical cysts (asterix).", "modalities": ["ct"]}, {"type": "fig", "id": 1, "subfig": "B, C, E, F", "path": ["images/24497809/fig/2.jpg"], "caption": "(B) PET transaxial image of the pancreas and liver with 68Ga-DOTANOC, SUVmax=18.6 in pancreatic mass, SUVmax=13.2 in liver segment III. (C) PET-CT transaxial image of the pancreas and liver with 68Ga-DOTANOC, SUVmax=18.6 in pancreatic mass, SUVmax=13.2 in liver segment III. (E) PET image of the kidney with 68Ga-DOTANOC, SUVmax=3.1 in renal mass. (F) PET-CT image of the kidney with 68Ga-DOTANOC, SUVmax=3.1 in renal mass.", "detailed_caption": "Transaxial PET (B) and PET-CT (C) images show intense heterogeneous uptake of 68Ga-labelled [1, 4, 7, 10-tetraazacyclododecane-1, 4, 7, 10-tetraacetic acid]-1-Nal3-Octreotide (68Ga-DOTANOC) (SUVmax = 18.6) in pancreatic mass (arrow), thus confirming it to be NET. Focal 68Ga-DOTANOC uptake (SUVmax = 13.2) was also seen in segment III of liver (B, C, broken arrow) suggesting liver metastasis from pancreatic NET. PET (E) and PET-CT (F) images reveal mild 68Ga-DOTANOC uptake (SUVmax = 3.1) in renal mass (arrow).", "modalities": ["pet/spect/nuclear", "ct"]}, {"type": "fig", "id": 1, "subfig": "G, H, I", "path": ["images/24497809/fig/3.jpg"], "caption": "(G) PET of the brain, transaxial view, 68Ga-DOTANOC, SUVmax=9.9. (H) PET-CT of the brain, transaxial view, 68Ga-DOTANOC, SUVmax=9.9. (I) MRI of the brain, transaxial view, T2-weighted, gadolinium enhanced.", "detailed_caption": "Transaxial PET (G) and PET-CT (H) images of brain show focal area of 68Ga-DOTANOC uptake (SUVmax = 9.9) in hypodense lesion (2 x 2 cm) in left cerebellum (arrow). Transaxial T2 weighted gadolinium enhanced MRI (I) of brain reveals nodular lesion in lateral half of left cerebellar hemisphere with intense post contrast enhancement (arrow), suggesting hemangioblastoma. ", "modalities": ["pet/spect/nuclear", "ct", "mri"]}, {"type": "fig", "id": 1, "subfig": "J, K, L", "path": ["images/24497809/fig/4.jpg"], "caption": "(J) PET, transaxial view, 68Ga-DOTANOC, SUVmax=8.3, left globe. (K) PET-CT, transaxial view, 68Ga-DOTANOC, SUVmax=8.3, left globe. (L) MRI, transaxial view, T2-weighted, gadolinium-enhanced, left globe.", "detailed_caption": "Transaxial PET (J) and PET-CT (K) images also revealed focal 68Ga-DOTANOC uptake (SUVmax = 8.3) in lateral part of left globe, corresponding to heterogeneous nodular lesion (arrow). Transaxial T2 weighted gadolinium enhanced MRI (L) showed eccentric nodule in lateral part of left globe with intense post contrast enhancement, suggesting retinal hemangioblastoma (arrow).", "modalities": ["pet/spect/nuclear", "ct", "mri"]}], "diagnosis": "Von Hippel-Lindau syndrome with cerebellar hemangioblastoma, retinal hemangioblastoma, renal cell carcinoma, metastatic pancreatic neuroendocrine tumor, pancreatic cysts and renal cysts", "standardized_diagnosis": [{"original_term": "Von Hippel-Lindau syndrome", "corrected_term": null, "code": "5A75", "title": "Von Hippel-Lindau syndrome", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": true}]}, "year": 2014, "classification": "Genetic and congenital disorders"}
+{"pmid": "24910386", "patient_info": {"basic_info": "46-year-old woman presented with frequent collapse. Medical history included carotid endarterectomy in 2005 following a small right hemispheric stroke, and hypercholesterolaemia. No previous dermatological or scalp problems. Current medications: clopidogrel 75mg, aspirin 80mg, and simvastatin 40mg daily.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/24910386/fig/1.jpg"], "caption": "Clinical photograph of the scalp at the time of presentation.", "detailed_caption": "A: Clinical photograph of the scalp demonstrating ischaemic ulceration and hair loss, depicting the anatomical site of the lesion on the patient's head at the time of presentation.", "modalities": ["clinical"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/24910386/fig/2.jpg"], "caption": "Magnetic resonance angiography of the head and neck.", "detailed_caption": "Magnetic resonance angiography revealed occlusion of both common carotid arteries, the innominate artery, and the right vertebral artery, and 80% stenosis of the orifice of the left subclavian artery. The circle of Willis was perfused by the left vertebral artery, and the right vertebral artery was filled retrograde from the left side. Blood supply to the head was maintained by the stenosed left subclavian artery.", "modalities": ["mri", "angiography"]}], "diagnosis": "Ischaemic scalp lesions due to insufficient tissue perfusion caused by multiple arterial occlusions and stenosis", "standardized_diagnosis": [{"original_term": "Ischaemic scalp lesions", "corrected_term": null, "code": "NA01.2&XA6CW5", "title": "Laceration of scalp", "chapter": "Injury, poisoning or certain other consequences of external causes", "primary": true}, {"original_term": "Arterial occlusion", "corrected_term": null, "code": "BD30.Z", "title": "Acute arterial occlusion", "chapter": "Diseases of the circulatory system", "primary": false}, {"original_term": "Arterial stenosis", "corrected_term": null, "code": "BD52.2", "title": "arterial stenosis", "chapter": "Diseases of the circulatory system", "primary": false}]}, "year": 2014, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "24958830", "patient_info": {"basic_info": "22-year-old male presented with infertility. Seven years prior, he had developed diabetes insipidus and seborrheic dermatitis without specific diagnosis. Later developed partial complex seizures, bilateral hemianopsia, bilateral parotitis, oozing of both ears, ulcerative axillary lymphadenopathy, and rectal proctitis.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/24958830/fig/1.jpg"], "caption": "MRI of the brain, suprasellar and prepontine cistern, with measurement 3.3 × 3.4 × 4.2 cm.", "detailed_caption": "MRI showed hypothalamic mass (3.3 × 3.4 × 4.2 cm) in the suprasellar and prepontine cistern, with posterior displacement of the brainstem and mass effect on optic chiasm. Two small foci noted at medial aspect of both temporal lobes.", "modalities": ["mri"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/24958830/fig/2.jpg"], "caption": "Rectal biopsy, immunohistochemistry staining, 100× magnification, CD68+, CD1a+, CD201+, S100+.", "detailed_caption": "Rectal biopsy showed Langerhans cell histiocytosis positive for CD68, CD1a, CD201, and S100 (×100 magnification)", "modalities": ["pathology"]}, {"type": "fig", "id": 3, "subfig": "A-B", "path": ["images/24958830/fig/3.jpg"], "caption": "(A) Chest radiograph, posteroanterior view, performed in October 2010. (B) Chest CT, axial view, performed in October 2010.", "detailed_caption": "A: A posteroanterior chest radiograph from October 2010 demonstrates bilateral cystic changes and bullae in both lung bases, consistent with regressed pulmonary Langerhans cell histiocytosis. B: An axial chest CT image from October 2010 shows multiple bilateral thin-walled cystic lesions predominantly in the lung bases, further confirming cystic pulmonary involvement.", "modalities": ["x-ray", "ct"]}], "diagnosis": "Multisystem Langerhans Cell Histiocytosis (LCH)", "standardized_diagnosis": [{"original_term": "Multisystem Langerhans Cell Histiocytosis", "corrected_term": null, "code": "2B31.2Z", "title": "Langerhans cell histiocytosis", "chapter": "Diseases of the skin", "primary": true}]}, "year": 2016, "classification": "Neoplastic diseases"}
+{"pmid": "24912654", "patient_info": {"basic_info": "A 56-year-old man presented with a seven-day history of worsening epigastric pain associated with nausea and belching. He had a medical history of splenectomy following trauma, hyperlipidaemia, obesity, and Bell's palsy. Abdominal computed tomography performed in 2007 had shown multiple abdominal nodules consistent with splenunculi but nothing else of note. He had recently been prescribed orlistat to facilitate weight loss and had been taking the drug for about 10 days before the onset of symptoms. On examination, he was haemodynamically stable with a temperature of 37.5°C, and his abdomen was soft but tender in the epigastric region and left iliac fossa. Digital rectal examination did not identify blood, masses, or melaena. Blood tests revealed mild neutrophilia (8.4 × 10^9/L; reference range 1.7-8.0) and raised C reactive protein (102.4 mg/L; reference range 0-7.5), but normal liver biochemistry, renal function, and concentrations of amylase and lipase. While awaiting inpatient oesophagogastroduodenoscopy, his inflammatory markers deteriorated and his abdominal pain persisted despite appropriate analgesia and high-dose proton pump inhibitor therapy.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/24912654/fig/1.jpg"], "caption": "CT with contrast of the abdomen.", "detailed_caption": "Contrast enhanced computed tomography shows non-occlusive acute venous thrombosis in the portal and mesenteric veins with associated mesenteric venous congestion", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/24912654/fig/2.jpg"], "caption": "Contrast-enhanced computed tomography of the portal and mesenteric veins.", "detailed_caption": "Contrast enhanced computed tomography shows non-occlusive acute venous thrombosis in the portal and mesenteric veins with associated mesenteric venous congestion", "modalities": ["ct"]}], "diagnosis": "Acute portal vein thrombosis with superior mesenteric vein thrombosis", "standardized_diagnosis": [{"original_term": "Acute portal vein thrombosis", "corrected_term": null, "code": "DB98.3", "title": "Portal vein thrombosis", "chapter": "Diseases of the digestive system", "primary": true}, {"original_term": "Superior mesenteric vein thrombosis", "corrected_term": null, "code": "DD30.2", "title": "thrombosis of mesenteric vein", "chapter": "Diseases of the digestive system", "primary": false}]}, "year": 2014, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "25011452", "patient_info": {"basic_info": "An 84-year-old woman presented with a five-month history of central, recurrent, severe epigastric pain occurring about 20 minutes after eating. The pain was associated with nausea, occasional diarrhea, and vomiting. She experienced early satiety and weight loss over the last few months. Her medical history included myocardial infarction two years earlier and a 40 pack-year history of smoking. On examination, she was cachectic, but physical examination and digital rectal examination were otherwise unremarkable. Blood tests including full blood count, liver function tests, amylase, and renal function were normal. Chest and abdominal radiographs, abdominal ultrasound, and computed tomography of the abdomen were unremarkable.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/25011452/fig/1.jpg"], "caption": "CT angiogram of the abdominal aorta.", "detailed_caption": "Computed tomography angiogram showing atherosclerotic disease of the abdominal aorta with wall calcification, severe stenotic disease of the proximal segments of both the coeliac axis and superior mesenteric artery with large calcified plaques narrowing the origins of these vessels, and occlusion of the inferior mesenteric artery, indicating severe splanchnic arterial stenotic disease.", "modalities": ["ct", "angiography"]}], "diagnosis": "Mesenteric angina (chronic mesenteric ischaemia)", "standardized_diagnosis": [{"original_term": "Mesenteric angina", "corrected_term": null, "code": "DD31.0Y", "title": "mesenteric angina", "chapter": "Diseases of the digestive system", "primary": false}, {"original_term": "Chronic mesenteric ischaemia", "corrected_term": null, "code": "DD31.0Y", "title": "Chronic mesenteric ischaemia", "chapter": "Diseases of the digestive system", "primary": true}]}, "year": 2014, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "24938567", "patient_info": {"basic_info": "A 16-year-old girl presented with acute left shoulder pain, left-sided chest pain, and shortness of breath. She had a 4-month history of intermittent left shoulder and left-sided chest pain following a dance recital, which had been treated with analgesia and physiotherapy. She denied fever, cough, orthopnea, weight loss, and appetite change. Physical examination revealed tenderness at the location of the left fifth rib and reduced left chest expansion.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/24938567/fig/1.jpg"], "caption": "(A) Chest radiograph, anteroposterior view. (B) Chest radiograph, left lateral view.", "detailed_caption": "Anteroposterior and left lateral chest radiographs show left lower lobe opacification obscuring the left hemidiaphragm and blunting of the left costophrenic angle.", "modalities": ["x-ray"]}, {"type": "fig", "id": 2, "subfig": "A", "path": ["images/24938567/fig/2.jpg"], "caption": "Chest CT, axial view.", "detailed_caption": "Chest computed tomography axial view demonstrates a mixed lytic/sclerotic destructive lesion of the left fifth rib associated with a 5.5 × 5.1-cm heterogenous extrapleural mass with extensive intrathoracic involvement.", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": "B", "path": ["images/24938567/fig/3.jpg"], "caption": "Chest CT, sagittal view.", "detailed_caption": "Chest computed tomography sagittal view shows the mixed lytic/sclerotic destructive lesion of the left fifth rib with associated extrapleural mass and intrathoracic involvement.", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": "C", "path": ["images/24938567/fig/4.jpg"], "caption": "Hematoxylin-eosin slide of biopsied rib lesion.", "detailed_caption": "Hematoxylin-eosin slide of biopsied rib lesion demonstrates histology featuring round to oval pleomorphic osteoblasts with irregular hyperchromatic nuclei and frequent mitoses and intervening lace-like osteoid matrix, consistent with osteosarcoma.", "modalities": ["pathology"]}], "diagnosis": "Rib osteosarcoma", "standardized_diagnosis": [{"original_term": "Rib osteosarcoma", "corrected_term": null, "code": "2B51.Y", "title": "Osteosarcoma of bone or articular cartilage of ribs, sternum or clavicle", "chapter": "Neoplasms", "primary": true}]}, "year": 2014, "classification": "Neoplastic diseases"}
+{"pmid": "24918376", "patient_info": {"basic_info": "A 32-year-old man presented with a 10-week history of skin rash and muscle weakness. Ten weeks before admission, he developed a violaceous rash involving the eyelids, elbows, metacarpophalangeal and proximal interphalangeal joints, and knees. One week later, intense generalized muscle pain and weakness developed, including difficulty walking, arising from a squat, and climbing stairs. Physical examination at another hospital revealed a heliotrope rash on the eyelids, periungual edema, erythematous papules on the fingertips, and moderate-to-severe weakness of the deltoids, triceps, hip flexors, hamstrings, and quadriceps bilaterally. Muscle bulk and tone, deep-tendon reflexes, and the sensory examination were normal. On examination at this hospital, he was alert, oriented, and afebrile with blood pressure 175/90 mmHg, pulse 128 beats per minute, respiratory rate 40 breaths per minute, and oxygen saturation 93% on 10 liters oxygen via nonrebreather mask. He had diminished breath sounds at both lung bases, hypoactive bowel sounds, erythematous papules on the extensor surfaces of fingers, elbows, and knees, heliotrope rash bilaterally, nontender periungual erythema, and pitting edema of arms and legs. Grip strength and strength of foot dorsiflexion and plantar flexion were 4-/5, and he was unable to lift his arms, legs, or head against gravity (2+/5). The patient had a history of meniscal repair 10 years earlier, worked in a service industry, did not smoke or use illicit drugs, and had a family history of hypertension in his father and hypothyroidism in two aunts.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": "Column: 1st Hospital, 24 Days before Admission to MGH", "path": ["images/24918376/tab/1.jpg"], "caption": "Laboratory results.", "detailed_caption": "Laboratory results showed hematocrit 46.8%, hemoglobin 16.3 g/dl, white-cell count 24,000 per mm³ with 93.8% neutrophils, 2.7% lymphocytes, platelet count 288,000 per mm³, sodium 124 mmol/liter, potassium 6.0 mmol/liter, chloride 87 mmol/liter, carbon dioxide 24 mmol/liter, urea nitrogen 30 mg/dl, creatinine 1.09 mg/dl, glucose 158 mg/dl, total protein 5.4 g/dl, albumin 2.5 g/dl, alkaline phosphatase 62 U/liter, aspartate aminotransferase 440 U/liter, alanine aminotransferase 128 U/liter, creatine kinase 12,511 U/liter, creatine kinase MB isoenzyme 109.5 ng/ml, and troponin I 0.05 ng/ml.", "modalities": ["lab"]}, {"type": "tab", "id": 1, "subfig": "Column: This Hospital, On Admission", "path": ["images/24918376/tab/2.jpg"], "caption": "Laboratory results on admission.", "detailed_caption": "Laboratory results on admission showed hematocrit 31.0%, hemoglobin 10.5 g/dl, white-cell count 17,000 per mm³ with 85% neutrophils, 2% lymphocytes, platelet count 728,000 per mm³, red-cell distribution width 16.1%, erythrocyte count 3,650,000 per mm³, activated partial-thromboplastin time 30.0 sec, prothrombin time 13.9 sec, international normalized ratio 1.2, sodium 135 mmol/liter, potassium 3.6 mmol/liter, chloride 97 mmol/liter, carbon dioxide 30.2 mmol/liter, urea nitrogen 17 mg/dl, creatinine 0.38 mg/dl, glucose 155 mg/dl, total protein 6.3 g/dl, albumin 3.0 g/dl, alkaline phosphatase 74 U/liter, aspartate aminotransferase 225 U/liter, alanine aminotransferase 63 U/liter, lactate dehydrogenase 468 U/liter, creatine kinase 1915 U/liter, creatine kinase MB isoenzyme 19.7 ng/ml, troponin T 0.72 ng/ml, fibrinogen 473 mg/dl, ferritin 2324 ng/ml, iron 24 μg/dl, total iron-binding capacity 108 μg/dl, soluble interleukin-2 receptor α chain 3172 U/ml, glucose-6-phosphate dehydrogenase 14.9 IU/g hemoglobin, and arterial blood gases showing pH 7.15, partial pressure of carbon dioxide 88 mmHg, partial pressure of oxygen 45 mmHg, base excess -0.9 mmol/liter on 100% inspired oxygen.", "modalities": ["lab"]}], "diagnosis": "Dermatomyositis and malignant atrophic papulosis (Degos's disease)", "standardized_diagnosis": [{"original_term": "Dermatomyositis", "corrected_term": null, "code": "4A41.0Z", "title": "Dermatomyositis", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": true}, {"original_term": "Malignant atrophic papulosis", "corrected_term": null, "code": "EF5Y", "title": "Malignant atrophic papulosis", "chapter": "Diseases of the skin", "primary": false}]}, "year": 2014, "classification": "Dermatologic and mucosal diseases"}
+{"pmid": "24991462", "patient_info": {"basic_info": "3-year-old boy, born at 41 weeks gestation without perinatal problems, birth weight 3.4kg. Parents were not consanguineous and had no medical history. History of 3 prior hospitalizations for viral pneumonia at 12, 18, and 27 months. Presented with recurrent and persistent pneumonia. Current symptoms included cough, sputum and fever. Physical exam showed: temperature 39.5°C, pulse 129/min, respiration 28/min, BP 95/55 mmHg. Weight 15.3kg (50-75th percentile), height 96.5cm (50-75th percentile). Two 3mm ulcers in uvula, fine crackles in both lung fields, palpable liver 1 finger-breadth below right costal margin, palpable spleen tip.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/24991462/fig/1.jpg"], "caption": "(A) Chest X-ray. (B) Chest CT.", "detailed_caption": "(A) Chest X-ray showed patchy consolidation in the right middle lobe and increased peribronchial opacity in the bilateral lower lung fields. (B) Chest CT showed air bronchogram and consolidation in the left lower lobe and atelectasis with pleural effusion in the right lower lobe.", "modalities": ["x-ray", "ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/24991462/fig/2.jpg"], "caption": "(A) Dihydrorhodamine (DHR) assay of granulocytes from the patient, stimulation index (SI)=1.4. (B) DHR assay of granulocytes from the patient's mother, SI=25. (C) DHR assay of granulocytes from a normal subject, SI=127.9.", "detailed_caption": "Histograms of the dihydrorhodamine (DHR) assay of granulocytes from the patient, his mother and a normal subject. DHR assay of the patient’s granulocyte (A) revealed the near absence of fluorescence upon granulocyte stimulation. The stimulation index (SI) was 1.4 which was compatible with X-CGD. The DHR assay of granulocytes from the patient’s mother (B) and a normal subject (C) showed a histogram with SI 25 and 127.9, respectively.", "modalities": ["lab"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/24991462/fig/3.jpg"], "caption": "(A) Genetic analysis of CYBB gene exon from the patient. (B) Genetic analysis of CYBB gene exon from the patient's mother. (C) Genetic analysis of CYBB gene exon from a normal subject.", "detailed_caption": "Analysis of a CYBB gene exon of the patient (A), his mother (B) and a normal subject (C). Chromatogram of a CYBB exon of the patient showed a novel complex mutation, c.1133A>G (p.Asp378Gly).", "modalities": ["genetic"]}], "diagnosis": "X-linked Chronic Granulomatous Disease (CGD) with novel CYBB gene mutation c.1133A>G (p.Asp378Gly)", "standardized_diagnosis": [{"original_term": "X-linked Chronic Granulomatous Disease", "corrected_term": null, "code": "4A00.0Y", "title": "Chronic granulomatous disease", "chapter": "Diseases of the immune system", "primary": true}]}, "year": 2014, "classification": "Infectious and immunologic disorders"}
+{"pmid": "25016996", "patient_info": {"basic_info": "92-year-old woman with BMI 14.2 kg/m². Past history: no abdominal surgery, five children by normal vaginal delivery. Presenting with: 2-day history of sudden onset right knee pain, 1-day history of nausea and vomiting. Physical exam: no knee swelling/tenderness, patient frequently flexed right knee for pain relief, abdominal distension present, tenderness to deep palpation but no peritoneal irritation signs, no abdominal mass. Rectal exam revealed small extraluminal mass on right side. Initial abdominal radiograph showed small-bowel obstruction.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/25016996/fig/1.jpg"], "caption": "CT of the pelvis, coronal(A)  and sagittal (B) views.", "detailed_caption": "CT of pelvis (coronal and sagittal views) showed small intestine herniating into right obturator canal. The incarcerated bowel loop showed prominent wall enhancement consistent with early vascular compromise.", "modalities": ["ct"]}], "diagnosis": "Right obturator hernia", "standardized_diagnosis": [{"original_term": "Obturator hernia", "corrected_term": null, "code": "DD50.1", "title": "Obturator hernia", "chapter": "Diseases of the digestive system", "primary": true}]}, "year": 2014, "classification": "Gastrointestinal disorders"}
+{"pmid": "25209933", "patient_info": {"basic_info": "A 52-year-old man presented to the emergency department with complete inability to swallow (absolute dysphagia) and throat pain that began acutely while eating a piece of steak three hours earlier. He described pain in the middle of his throat and inability to swallow fluids without regurgitation. He arrived carrying a bowl and was spitting out his own saliva. He reported no voice changes or breathing difficulty. He was otherwise fit and well with no recent trauma, weight loss, or history of similar presentations. Physical examination of the neck was unremarkable except that he regurgitated test drinks of water.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/25209933/fig/1.jpg"], "caption": "Lateral soft tissue radiograph of the neck, showing a 2 cm soft tissue opacity at the level of C5-C6 vertebrae within the distal pharynx-proximal oesophagus.", "detailed_caption": "Lateral soft tissue radiograph of the neck shows a soft tissue opacity measuring 2 cm in width at the level of C5-C6 vertebrae within the distal pharynx-proximal oesophagus, consistent with a wedged food bolus at the level of the cricopharyngeus muscle, with air below the mass in the oesophagus and mild loss of lordosis due to muscular spasm. No prevertebral soft tissue swelling or surgical emphysema suggestive of perforation is visible.", "modalities": ["x-ray"]}], "diagnosis": "Soft food bolus in the proximal oesophagus", "standardized_diagnosis": [{"original_term": "Food bolus obstruction of esophagus", "corrected_term": null, "code": "DA20.0", "title": "Oesophageal obstruction", "chapter": "Diseases of the digestive system", "primary": true}]}, "year": 2014, "classification": "Gastrointestinal disorders"}
+{"pmid": "24785210", "patient_info": {"basic_info": "A 55-year-old man with a history of heart failure presented to the emergency department with pain and swelling in his right foot and leg. Three days prior to presentation, he developed sudden onset of swelling in the right foot and calf without trauma, which progressively worsened and extended to the upper leg, accompanied by pain in the foot and calf. On the day of presentation, he noted new dusky discoloration of the toes on his right foot. His medical history included obesity, paroxysmal atrial fibrillation, hypertension, and heart failure with preserved ejection fraction. He had a 30-pack-year smoking history but quit 5 years prior, consumed about four beers weekly, and reported intentional weight loss of 22.7 kg over the preceding 6 months. Current medications included warfarin, sotalol, torsemide, and lisinopril. Physical examination revealed temperature of 36.1°C, heart rate 80 beats per minute, blood pressure 96/50 mmHg, and oxygen saturation 95% on ambient air. Notable findings included poor dentition, clear lungs, regular heart sounds, jugular venous pressure of 8 cm water, and markedly asymmetric legs with 4+ pitting edema of the right upper thigh and 2+ pitting edema of the left calf. The right leg and foot were dusky and cold with distal pulses detectable only on Doppler ultrasonography.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/24785210/fig/1.jpg"], "caption": "Clinical photograph of the dorsal and plantar surfaces of the right foot.", "detailed_caption": "Shows discrete hemorrhagic bullae on a purpuric base with central, dusky discoloration suggestive of epidermal necrosis on both dorsal and plantar surfaces of the right foot, with confluent bullae particularly over the dorsomedial aspect of the foot and toes.", "modalities": ["clinical"]}, {"type": "fig", "id": 2, "subfig": "A", "path": ["images/24785210/fig/2.jpg"], "caption": "Venogram of the right femoral vein obtained before treatment.", "detailed_caption": "Venogram obtained before treatment shows contrast material staining the wall of the right femoral vein, but occlusion prevents it from filling the lumen.", "modalities": ["angiography"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/24785210/fig/3.jpg"], "caption": "CT of the abdomen without contrast.", "detailed_caption": "Abdominal CT scan without contrast shows heterogeneous liver texture, ascites, diffuse omental nodularity, and a solid mass extending along the greater curvature of the stomach with papillary fronds.", "modalities": ["ct"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/24785210/fig/4.jpg"], "caption": "(A) Endoscopic examination of the stomach, greater curvature. (B) Endoscopic examination of the stomach, greater curvature.", "detailed_caption": "Endoscopic images show thickened, erythematous, poorly distensible gastric folds along the greater curvature (Panel A). Closer inspection reveals a centrally ulcerated mass in this area (Panel B).", "modalities": ["endoscopy"]}, {"type": "fig", "id": 5, "subfig": null, "path": ["images/24785210/fig/5.jpg"], "caption": "(A) Gastric mucosa biopsy, H&E staining. (B) Gastric mucosa biopsy, H&E staining.", "detailed_caption": "Panel A shows a transition from non-neoplastic gastric mucosa at the left (arrows) to infiltrative glands with irregular gland profiles and enlarged hyperchromatic nuclei at the right; the latter is a finding consistent with adenocarcinoma. Panel B shows biopsy-specimen fragments completely replaced with neoplastic epithelium that shows focal-gland formation (arrows) and solid areas with central necrosis (arrowhead). The overall findings are consistent with a poorly differentiated adenocarcinoma.", "modalities": ["pathology"]}], "diagnosis": "Phlegmasia cerulea dolens secondary to poorly differentiated, invasive adenocarcinoma of gastric origin", "standardized_diagnosis": [{"original_term": "Phlegmasia cerulea dolens", "corrected_term": null, "code": "JB41.1", "title": "phlegmasia alba dolens", "chapter": "Pregnancy, childbirth or the puerperium", "primary": false}, {"original_term": "Poorly differentiated invasive adenocarcinoma of gastric origin", "corrected_term": null, "code": "2B72.0", "title": "Adenocarcinoma of stomach", "chapter": "Neoplasms", "primary": true}]}, "year": 2014, "classification": "Neoplastic diseases"}
+{"pmid": "24799479", "patient_info": {"basic_info": "58-year-old woman with history of hypertension presented to emergency department with seizures. Initial symptoms included mild frontal headache, blurry vision, and disorientation, followed by two witnessed episodes of tonic left side stiffening, left head turn, and bilateral lower extremity shaking. No prior history of seizures. On examination: blood pressure 178/84 mmHg, alert but not oriented to time, had left-right confusion, simultanagnosia, prominent ocular apraxia, no visual field loss, brisk reflexes throughout with bilateral Babinski signs, and diminished sensation to vibration, temperature, and light touch in both feet. Laboratory testing showed normal liver and renal function, normal blood glucose, ammonia, and electrolytes.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A,B", "path": ["images/24799479/fig/1.jpg"], "caption": "CT of the head, occipital and parietal lobes.", "detailed_caption": "Head CT showed patchy areas of hypoattenuation in bilateral occipital and parietal lobes with obscuration of cortical gray-white matter differentiation and sulcal effacement", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": "A-D", "path": ["images/24799479/fig/2.jpg"], "caption": "MRI of the brain, T2-weighted sequence, bilateral occipital, parietal, and minimal frontal lobe involvement, diffusion-weighted imaging.", "detailed_caption": "Brain MRI revealed patchy areas of abnormal T2 hyperintensity in bilateral occipital and parietal lobes with minimal involvement of frontal lobes. Several punctate foci of reduced diffusivity were detected in occipital lobes", "modalities": ["mri"]}], "diagnosis": "Posterior Reversible Encephalopathy Syndrome (PRES)", "standardized_diagnosis": [{"original_term": "Posterior Reversible Encephalopathy Syndrome", "corrected_term": null, "code": "8B22.Y", "title": "Posterior reversible encephalopathy", "chapter": "Diseases of the nervous system", "primary": true}]}, "year": 2016, "classification": "Neurological disorders"}
+{"pmid": "24998813", "patient_info": {"basic_info": "50-year-old man presented with 2-week history of constant worsening headache affecting the whole head. No history of head trauma, but reported headbanging at a Motörhead concert 4 weeks prior to presentation. Medical history was unremarkable and patient denied substance misuse. Neurological examination and laboratory studies, including coagulation screening, were normal.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/24998813/fig/1.jpg"], "caption": "CT of the head, preoperative, maximum hematoma width 20 mm.", "detailed_caption": "Preoperative CT showed right-sided chronic subdural hematoma (maximum width 20 mm) with pronounced midline shift and a clot at the tip of the right temporal lobe", "modalities": ["ct"]}], "diagnosis": "Chronic subdural haematoma secondary to headbanging, with an underlying arachnoidal cyst in the right middle cranial fossa", "standardized_diagnosis": [{"original_term": "Chronic subdural haematoma", "corrected_term": null, "code": "NA07.61", "title": "chronic subdural haematoma", "chapter": "Injury, poisoning or certain other consequences of external causes", "primary": true}, {"original_term": "Arachnoidal cyst", "corrected_term": null, "code": "8D67", "title": "arachnoid cyst", "chapter": "Diseases of the nervous system", "primary": false}]}, "year": 2014, "classification": "Neurological disorders"}
+{"pmid": "25024074", "patient_info": {"basic_info": "A 52-year-old woman presented with complaints of anal pain, constipation, and tenesmus for 3 months before being referred to the hospital. There were no relevant prior illnesses. Rectal digital examination revealed a 6-cm smooth elastic mass on the rectal posterior left side 2 cm from the anal verge. Colonoscopy showed a rectal submucosal bulging. Computed tomography scan and magnetic resonance imaging confirmed the presence of a single 6-cm well-delimited mass, compressing and infiltrating the wall of the medium to low rectum.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/25024074/fig/1.jpg"], "caption": "Histopathological examination of the rectal wall, H&E staining, 50× high-power fields, mitoses=80/50 HPF. Immunohistochemical staining: CD117 positive, DOG1 positive, CD34 positive, S100 positive (patchy cytoplasmic pattern), desmin negative, melan-A negative, HMB45 negative.", "detailed_caption": "Histopathological examination showed tumor composed of spindle cells with perinuclear vacuolization and several mitoses (80/50 high-power fields), with scarce rectal wall smooth muscle present. The tumor stained positive for CD117, DOG1, CD34, and S100 (patchy cytoplasmic pattern), while desmin, melan-A, and HMB45 were negative.", "modalities": ["pathology"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/25024074/fig/2.jpg"], "caption": "(A) Polymerase chain reaction direct sequencing of tumor DNA. (B) Polymerase chain reaction direct sequencing of rectal wall smooth muscle DNA.", "detailed_caption": "Polymerase chain reaction direct sequencing on independent DNA templates from four different tumor fragments revealed two mutations: a 6-nucleotide insertion GCCTAT between 1509-1510 nucleotides causing an insertion of two amino acids alanine and tyrosine (p.Y503_F504insAY) in KIT exon 9, and a point mutation (A→T at 2525) determining a Val for Asp substitution at 842 (D842V) of exon 18 of PDGFRA. KIT and PDGFRA were wild type in the rectal wall smooth muscle.", "modalities": ["lab"]}], "diagnosis": "Spindle-cell GI stromal tumor (GIST)", "standardized_diagnosis": [{"original_term": "Gastrointestinal stromal tumor", "corrected_term": null, "code": "2B5B.Z", "title": "Gastrointestinal stromal tumour of unspecified gastrointestinal sites", "chapter": "Neoplasms", "primary": true}]}, "year": 2016, "classification": "Neoplastic diseases"}
+{"pmid": "24794374", "patient_info": {"basic_info": "4-year-old healthy girl presented with left eye noticed by parents for past 2 months. Visual acuity: right eye 6/7.5 (20/25), left eye did not follow objects. No family history of childhood cancers. No other pertinent medical history. Physical examination otherwise unremarkable.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/24794374/fig/1.jpg"], "caption": "Clinical photograph of the left eye at presentation.", "detailed_caption": "Figure 1 is a clinical photograph demonstrating the left eye of a 4-year-old girl at presentation, showing leukocoria, characterized by an abnormal white pupillary reflection.", "modalities": ["clinical"]}, {"type": "fig", "id": 2, "subfig": "A", "path": ["images/24794374/fig/2.jpg"], "caption": "Funduscopic examination of the eye.", "detailed_caption": "Funduscopic examination revealed subretinal white tumor and retinal detachment", "modalities": ["ophthalmic imaging"]}, {"type": "fig", "id": 2, "subfig": "B", "path": ["images/24794374/fig/3.jpg"], "caption": "Axial T2-weighted MRI of the retina.", "detailed_caption": "Axial T2-weighted MRI showed total retinal detachment with subretinal hemorrhage. Retina diffusely infiltrated by retinoblastoma", "modalities": ["mri"]}], "diagnosis": "Unilateral retinoblastoma", "standardized_diagnosis": [{"original_term": "Unilateral retinoblastoma", "corrected_term": null, "code": "2D02.2&XK70", "title": "Retinoblastoma[Unilateral, unspecified]", "chapter": "Diseases of the visual system", "primary": true}]}, "year": 2014, "classification": "Neoplastic diseases"}
+{"pmid": "25006723", "patient_info": {"basic_info": "This case involves a 68-year-old man who presented with diplopia of 2 days' duration. He had a history of granulomatosis with polyangiitis with chronic renal insufficiency, diagnosed 21 months prior to admission. Initially, he experienced diplopia that resolved when closing the right eye, accompanied by nausea, vomiting, mild headache, and unsteadiness while walking. The following day he remained fatigued and light-headed when standing, with persistent nausea but without vomiting. On the day of admission, he noted weakness and clumsiness of his left hand while buttoning his shirt. He reported continued diplopia with one image appearing above and to the right of the other, mild nausea, but denied headache, neck stiffness, photophobia, vertigo, weakness, numbness, fevers, or chills. He had a chronic decrease in vision in the right eye due to cataract. His baseline creatinine was 5.4 mg/dL. On examination, he appeared fatigued but arousable with temperature 37.2°C, blood pressure 139/91 mmHg, pulse 91 bpm, respiratory rate 18/min, and oxygen saturation 93% on room air. There was mild left-sided ptosis, subjective diplopia in primary gaze with greater vertical than horizontal separation, left-sided upper and lower facial weakness, diminished soft-palate elevation on the left, left hand held in flexion with 4/5 strength in left wrist extensors and finger abductors, normal right arm strength, dysdiadochokinesia of the left arm, fasciculations in the left calf, and flexor plantar responses with fanning of toes.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/25006723/tab/1.jpg"], "caption": "Laboratory results, including hematology, biochemistry, immunology, and initial cerebrospinal fluid analysis.", "detailed_caption": "Laboratory results showed hematocrit 33.7%, hemoglobin 11.2 g/dL, white-cell count 10,400/mm³ with 74% neutrophils and 16% lymphocytes, platelet count 177,000/mm³, elevated ESR at 34 mm/hr, C-reactive protein 11.1 mg/L, creatinine 6.83 mg/dL, urea nitrogen 79 mg/dL, and other electrolytes within normal ranges. ANCA showed borderline perinuclear staining with anti-myeloperoxidase antibodies at 2.4 U (borderline), and IgG level was low at 550 mg/dL. Initial CSF analysis showed 4-6 white cells/mm³, protein 42 mg/dL, glucose 81 mg/dL, and was colorless and clear without xanthochromia.", "modalities": ["lab"]}, {"type": "fig", "id": 1, "subfig": "A", "path": ["images/25006723/fig/2.jpg"], "caption": "MRI of the head, performed on day 1.", "detailed_caption": "Initial MRI of the head on day 1 showed mild, scattered white-matter changes, predominantly in the periventricular and subcortical regions, as well as in the midbrain region with more changes on the right side than left, consistent with chronic microangiopathic disease.", "modalities": ["mri"]}, {"type": "fig", "id": 1, "subfig": "B and C", "path": ["images/25006723/fig/3.jpg"], "caption": "MRI performed on day 3.", "detailed_caption": "Repeat MRI on day 3 showed new, progressive, hyperintense punctate and linear cortical and subcortical foci bilaterally, with some foci showing restricted diffusion suggestive of infarction, most notable in the right cingulate, precentral, and postcentral gyri, and also in the right midbrain, thalamus, corona radiata, and putamina bilaterally.", "modalities": ["mri"]}], "diagnosis": "Cerebral vasculitis due to granulomatosis with polyangiitis", "standardized_diagnosis": [{"original_term": "Cerebral vasculitis", "corrected_term": null, "code": "8B22.2", "title": "isolated benign cerebral vasculitis", "chapter": "Diseases of the nervous system", "primary": false}, {"original_term": "Granulomatosis with polyangiitis", "corrected_term": null, "code": "4A44.A1", "title": "Granulomatosis with polyangiitis", "chapter": "Diseases of the skin", "primary": true}]}, "year": 2014, "classification": "Neurological disorders"}
+{"pmid": "24869740", "patient_info": {"basic_info": "64-year-old male exercise physiologist who had ground, machined, drilled, and sanded Corian in his garage for about 16 years. He presented with clinical features typical of idiopathic pulmonary fibrosis.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/24869740/fig/1.jpg"], "caption": "Clinical photograph of Corian dust from the patient's garage.", "detailed_caption": "A: Corian dust from the patient’s garage is shown in a gross clinical photograph, illustrating the source of environmental aluminum trihydrate exposure relevant to the case.", "modalities": ["clinical"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/24869740/fig/2.jpg"], "caption": "CT of the lungs, high-resolution technique.", "detailed_caption": "High-resolution computed tomographic images of the lungs showing pattern suggestive of usual interstitial pneumonia", "modalities": ["ct"]}, {"type": "fig", "id": 1, "subfig": "C", "path": ["images/24869740/fig/3.jpg"], "caption": "H&E staining of surgical lung-biopsy specimen from right lower lobe.", "detailed_caption": "Hematoxylin-and-eosin staining showing pattern of usual interstitial pneumonia (patchy fibrosis and fibroblast focus) in surgical lung-biopsy specimen from right lower lobe", "modalities": ["pathology"]}, {"type": "fig", "id": 1, "subfig": "D", "path": ["images/24869740/fig/4.jpg"], "caption": "(D) Surgical lung biopsy from the right lower lobe, H&E staining, examined with polarized light microscopy.", "detailed_caption": "D: In Panel D, hematoxylin-and-eosin stained sections of a surgical lung-biopsy specimen from the patient's right lower lobe, examined with polarized light microscopy, show abundant translucent, birefringent particles located in areas of fibrosis and, to a lesser extent, in a lymphatic distribution around small vessels and airways (left image), with the birefringent nature of these particles highlighted under polarized light (right image).", "modalities": ["pathology"]}, {"type": "fig", "id": 1, "subfig": "E", "path": ["images/24869740/fig/5.jpg"], "caption": "Scanning electron microscopy with energy dispersive x-ray spectroscopy of the lung.", "detailed_caption": "Scanning electron microscopy with energy dispersive x-ray spectroscopy showing most abundant particles in lung contained aluminum and oxygen", "modalities": ["pathology", "x-ray"]}, {"type": "fig", "id": 1, "subfig": "F", "path": ["images/24869740/fig/6.jpg"], "caption": "Raman spectroscopy of lung tissue.", "detailed_caption": "Raman spectroscopy showing peaks associated with lung tissue containing aluminum oxide and aluminum trihydroxide", "modalities": []}], "diagnosis": "Pulmonary fibrosis associated with aluminum trihydrate (Corian) dust exposure, presenting with radiographic and histologic features of usual interstitial pneumonia", "standardized_diagnosis": [{"original_term": "Pulmonary fibrosis", "corrected_term": null, "code": "CB03.4", "title": "pulmonary fibrosis NOS", "chapter": "Diseases of the respiratory system", "primary": true}, {"original_term": "Usual interstitial pneumonia", "corrected_term": null, "code": "CB03.Z", "title": "interstitial pneumonia NOS", "chapter": "Diseases of the respiratory system", "primary": false}]}, "year": 2014, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "25092772", "patient_info": {"basic_info": "41-year-old right-handed man with neurologic history dating to his early twenties when he presented with seizures. In 2009, he developed headaches. Initial biopsy/resection pathology showed PXA (WHO grade 2) with BRAF V600E mutation confirmed by PCR testing.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A-B", "path": ["images/25092772/fig/1.jpg"], "caption": "MRI of the brain.", "detailed_caption": "MRI showing brain lesion with nodular enhancement and surrounding edema", "modalities": ["mri"]}], "diagnosis": "Anaplastic pleomorphic xanthoastrocytoma (PXA, WHO grade 3) with BRAF V600E mutation", "standardized_diagnosis": [{"original_term": "Anaplastic pleomorphic xanthoastrocytoma", "corrected_term": null, "code": "2A00.0Y", "title": "Pleomorphic xanthoastrocytoma of brain", "chapter": "Neoplasms", "primary": true}]}, "year": 2016, "classification": "Neoplastic diseases"}
+{"pmid": "25096696", "patient_info": {"basic_info": "41-year-old white male with history of myelofibrosis. Past medical history includes splenectomy and allogeneic peripheral hematopoietic stem cell transplantation from single-antigen mismatched unrelated donor 2 years prior. After sun exposure during sailing trip, developed nonpruritic rash on face, trunk and extremities, associated with intermittent fever, muscle pain and weakness. Only current medication is daily oral acyclovir. Vital signs normal. Physical exam showed impaired ability to dorsiflex wrists while bringing palms together ('prayer sign'). Lab results showed: AST 41 U/L, ALT 68 U/L, alkaline phosphatase 147 U/L, total bilirubin 0.7 mg/dL. Antinuclear antibody test positive (1:320) with speckled pattern.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/25096696/fig/1.jpg"], "caption": "(A) Clinical photograph of the forehead and cheeks. (B) Clinical photograph of the chest. (C) Clinical photograph of the dorsal surfaces of the hands.", "detailed_caption": "Physical findings showing: (A) Well-demarcated erythematous to violaceous scaly plaques on forehead and cheeks, sparing nasolabial folds and periocular regions. (B) Diffuse areas of reticulated hyperpigmentation on chest. (C) Violaceous, thin, flat-topped papules bilaterally on dorsal surfaces of hands.", "modalities": ["clinical"]}], "diagnosis": "Chronic graft-vs-host disease (GVHD)", "standardized_diagnosis": [{"original_term": "Chronic graft-versus-host disease", "corrected_term": null, "code": "4B24.1", "title": "Chronic graft-versus-host disease", "chapter": "Diseases of the skin", "primary": true}]}, "year": 2014, "classification": "Infectious and immunologic disorders"}
+{"pmid": "24982452", "patient_info": {"basic_info": "A 69-year-old woman presented in January 2013 with progressive fatigue, 30-pound weight loss over 2 years, and shortness of breath on exertion. She had a history of hairy cell leukemia initially diagnosed in March 2010, with multiple prior treatments including two courses of cladribine, splenectomy in January 2011, rituximab therapy, and interferon therapy without sustained response. Physical examination revealed a palpable 2-cm right-side submandibular lymph node, multiple subcentimeter lymph nodes in bilateral cervical and axillary regions, and a palpable 2-cm left axillary lymph node. Laboratory findings showed pancytopenia with hemoglobin 9.6 g/dL, white cell count 2.8 K/μL, hematocrit 28.8%, platelet count 41 K/μL, and mild neutropenia with absolute neutrophil count 1.46 K/μL. Peripheral blood smear demonstrated lymphocytes with light basophilic cytoplasm and hairy cell cytoplasmic projections. Liver enzymes were mildly elevated with AST 105 IU/L, ALT 136 IU/L, and ALP 500 IU/L. Serum β2 microglobulin was elevated at 4.7 mg/L, and serum interleukin-2 receptor levels were markedly elevated at >6,500 units/mL. Chest x-ray was normal.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A and B", "path": ["images/24982452/fig/1.jpg"], "caption": "Bone marrow aspirate, tartrate-resistant acid phosphatase (TRAP) staining, 1,000× magnification, lymphocytes=86%.", "detailed_caption": "Bone marrow aspirate shows 86% lymphocytes with multiple hairy cells having circumferential cytoplasmic projections and kidney-shaped nuclear contours, with positive tartrate-resistant acid phosphatase (TRAP) stain at ×1,000 magnification", "modalities": ["pathology"]}, {"type": "fig", "id": 1, "subfig": "C and D", "path": ["images/24982452/fig/2.jpg"], "caption": "Bone marrow biopsy, immunohistochemical staining for DBA44 and annexinA1, 200× and 400× magnification.", "detailed_caption": "Bone marrow biopsy shows diffuse and dense lymphoid infiltrates occupying approximately 40-50% of bone marrow medullary space with small lymphocytes having dense nuclear chromatin and abundant cytoplasm, with lymphocytes positive for DBA44 and annexinA1 immunohistochemical stains at ×200 and ×400 magnifications", "modalities": ["pathology"]}, {"type": "fig", "id": 2, "subfig": "A-D", "path": ["images/24982452/fig/3.jpg"], "caption": "Flow cytometry of bone marrow aspirate.", "detailed_caption": "Flow cytometry studies of bone marrow aspirate show monoclonal B cells with surface immunoglobulin kappa light chain restriction, with CD19+ lymphocytes positive for CD11c, CD20, CD25 dim, CD103, and CD200 and negative for CD5 and CD10", "modalities": ["lab"]}, {"type": "fig", "id": 3, "subfig": "A and B", "path": ["images/24982452/fig/4.jpg"], "caption": "Left axillary lymph node biopsy, H&E staining, 40× and 400× magnification.", "detailed_caption": "Excisional left axillary lymph node biopsy shows diffuse effacement by hairy cells with parenchymal hemorrhage, with lymphoid infiltrates mostly large in size having abundant pale cytoplasm, kidney-shaped irregular nuclear contours, closed chromatin, and inconspicuous nucleoli at ×40 and ×400 magnifications", "modalities": ["pathology"]}, {"type": "fig", "id": 3, "subfig": "C and D", "path": ["images/24982452/fig/5.jpg"], "caption": "(A) Splenectomy specimen, ×40 and ×400 magnifications.", "detailed_caption": "Splenectomy specimen shows diffuse red pulp infiltration by lymphoid cells at ×40 and ×400 magnifications with similar immunophenotypic features as bone marrow and lymph node", "modalities": ["pathology"]}], "diagnosis": "IGHV4-34+, BRAF negative relapsed hairy cell leukemia (HCL)", "standardized_diagnosis": [{"original_term": "Hairy cell leukemia", "corrected_term": null, "code": "2A82.2", "title": "Hairy-cell leukaemia", "chapter": "Neoplasms", "primary": true}]}, "year": 2016, "classification": "Neoplastic diseases"}
+{"pmid": "25271607", "patient_info": {"basic_info": "A 42-year-old man with a history of coronary artery disease and dyslipidemia presented to the emergency department with abdominal and chest discomfort. Two days prior, he experienced sudden onset of left upper quadrant abdominal pain that radiated to his back in a bandlike pattern across the subcostal margin, associated with nausea and early satiety. The pain worsened with movement and increased from 3 to 6 on a 10-point scale over two days. He also reported substernal chest pressure consistent with his usual angina but unresponsive to one sublingual nitroglycerin tablet. He denied abdominal trauma, emesis, rectal bleeding, or black stools. His chronic history included diarrhea since coronary bypass surgery over 10 years ago, worsening to four loose stools daily after cholesterol medication dose increase 6 months prior. He experienced 16 kg unintentional weight loss over 6 months, intermittent early satiety, daily headaches, frequent nocturia, and feeling warm at night without night sweats or fevers. Physical examination revealed mild left upper quadrant tenderness without peritoneal signs. His temperature was 36°C, heart rate 80 bpm, blood pressure 100/60 mmHg right arm and 105/63 mmHg left arm, respiratory rate 16, oxygen saturation 98% on room air, weight 78 kg, height 174 cm, and BMI 25.8. Laboratory findings showed normal electrolytes and renal function, leukocyte count 4780/mm³ with normal differential, hematocrit 46.9%, platelets 217,000/mm³, calcium 8.8 mg/dL, amylase 85 U/L (elevated), lipase 114 U/L (elevated), ALT 112 U/L (elevated), AST 88 U/L (elevated), alkaline phosphatase 57 U/L, total bilirubin 0.5 mg/dL, and triglycerides 85 mg/dL. Electrocardiogram showed normal sinus rhythm without ST-segment or T-wave abnormalities, and chest radiograph was normal.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/25271607/fig/1.jpg"], "caption": "(A) Abdominal CT, cross-sectional view. (B) Abdominal CT, coronal view.", "detailed_caption": "A cross-sectional view (Panel A) and a coronal view (Panel B) of the patient’s abdominal CT scan show multiple enlarged jejunal mesenteric lymph nodes (arrows), measuring up to 1.9 cm in diameter. The unenhanced hepatic veins (Panels A and B) are prominent, but the liver parenchyma is otherwise normal.", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/25271607/fig/2.jpg"], "caption": "(A) Photomicrograph, hematoxylin and eosin staining, low magnification. (B) Photomicrograph, hematoxylin and eosin staining, high magnification.", "detailed_caption": "A photomicrograph at low magnification (Panel A, hematoxylin and eosin) shows flattening of the villi. A photomicrograph at high magnification (Panel B, hematoxylin and eosin) shows intraepithelial lymphocytes (arrows).Images courtesy of Dr. Deborah Wayler, Beth Israel Deaconess Hospital–Needham, Needham, MA.", "modalities": ["pathology"]}], "diagnosis": "Celiac disease", "standardized_diagnosis": [{"original_term": "Celiac disease", "corrected_term": null, "code": "DA95", "title": "Coeliac disease", "chapter": "Diseases of the digestive system", "primary": true}]}, "year": 2014, "classification": "Gastrointestinal disorders"}
+{"pmid": "25248443", "patient_info": {"basic_info": "An 8-year-old boy presented to his general practitioner with limping and complaints of occasional leg pain. He was otherwise healthy and afebrile. On physical examination, he walked with a limp and demonstrated painful, reduced internal rotation and abduction of his right hip. Plain radiographs were obtained to evaluate his symptoms.", "supplementary_info": [{"type": "fig", "id": 2, "subfig": null, "path": ["images/25248443/fig/1.jpg"], "caption": "(Left) Radiograph at age 7. (Centre) Radiograph at age 9 following surgical pelvic osteotomy. (Right) Radiograph at age 12.", "detailed_caption": "Radiographic findings and course of treatment. Left: radiograph of 7 year old boy with Perthes’ disease showing increased density of left femoral head, with early collapse and fragmentation (right side is normal). Centre: same boy at age 9, following surgical treatment with pelvic osteotomy; femoral head is reossifying and restoring its shape. Right: the same boy at age 12, with nearly full anatomic restoration of shape of femoral head", "modalities": ["x-ray"]}], "diagnosis": "Perthes' disease", "standardized_diagnosis": [{"original_term": "Perthes' disease", "corrected_term": null, "code": "FB82.1", "title": "Perthes disease", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": true}]}, "year": 2014, "classification": "Orthopedic and connective tissue disorders"}
+{"pmid": "25024084", "patient_info": {"basic_info": "71-year-old man with acute myeloid leukemia (AML) characterized by trisomy 11 karyotypic abnormality and FLT3-tyrosine kinase domain mutation. He had Fitzpatrick phototype II skin. Initial presentation showed myeloblasts accounting for greater than 90% of peripheral blood cells and presence of FLT3-ITD mutation.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A,B", "path": ["images/25024084/fig/1.jpg"], "caption": "Clinical photographs of the anterior distal lower extremities taken before treatment.", "detailed_caption": "Pre-treatment photographs of anterior distal lower extremities showing hyperkeratotic pink papules and plaques", "modalities": ["clinical"]}, {"type": "fig", "id": 1, "subfig": "E", "path": ["images/25024084/fig/2.jpg"], "caption": "(E) Skin biopsy from the left thigh, H&E staining, low-power magnification.", "detailed_caption": "E: Figure 1E displays a low-power hematoxylin and eosin (H&E) stained section of a skin biopsy obtained from a representative lesion on the left thigh, showing pronounced epidermal proliferation with epidermal thickening, overlying parakeratosis, and underlying microinvasive nests of squamous cells.", "modalities": ["pathology"]}, {"type": "fig", "id": 1, "subfig": "F", "path": ["images/25024084/fig/3.jpg"], "caption": "High-power H&E-stained section of a skin biopsy from the left thigh.", "detailed_caption": "F: High-power hematoxylin and eosin-stained section of a skin biopsy from the left thigh displaying microinvasive nests of atypical squamous cells with dyskeratosis and malignant cytological features, consistent with squamous cell carcinoma.", "modalities": ["pathology"]}], "diagnosis": "Extensive Squamous Cell Carcinoma of the Skin in a patient with FLT3-Mutant Acute Myeloid Leukemia", "standardized_diagnosis": [{"original_term": "Squamous cell carcinoma of skin", "corrected_term": null, "code": "2C31.Z", "title": "Squamous cell carcinoma of skin", "chapter": "Neoplasms", "primary": true}, {"original_term": "FLT3-mutant acute myeloid leukemia", "corrected_term": null, "code": "2A60.3Z", "title": "Acute myeloid leukaemia, unspecified", "chapter": "Neoplasms", "primary": false}]}, "year": 2016, "classification": "Neoplastic diseases"}
+{"pmid": "25038768", "patient_info": {"basic_info": "A 44-year-old woman with a history of breast cancer presented with abnormal findings on 18-fluorodeoxyglucose positron emission tomography imaging. She had previously been diagnosed with breast cancer (T1N2M0, Stage IIIa, intraductal carcinoma, triple negative cancer) and had undergone adjuvant chemotherapy and radiation therapy after a right breast conserving surgery 2 years prior. She was a non-smoker with no specific occupational or environmental exposure to known carcinogens and had been taking tamoxifen after chemotherapy. Laboratory results revealed mild anemia (hemoglobin 11.4 mg/dL) and leucopenia (3,300/μL), with all other results within normal limits. Additional laboratory findings included an elevated angiotensin I-converting enzyme level of 101 U/L, and her purified protein derivative skin test for tuberculosis was negative. The biopsy sample was also negative for tuberculosis antigen-specific interferon gamma.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/25038768/fig/1.jpg"], "caption": "Positron emission tomography-computed tomography scan of the lungs and thoracic lymph nodes, SUV values: lung parenchyma 11.5, thoracic pleura 9.0, paratracheal lymph nodes (right 8.4, left 7.1), AP window lymph nodes 9.6, subcarinal lymph nodes 8.6, hilar lymph nodes (right 10.2, left 13.7), interlobar lymph nodes (right 10.7, left 13.2), paraesophageal lymph nodes 4.8.", "detailed_caption": "Positron emission tomography-computed tomography scan demonstrated multiple new hypermetabolic lesions in the parenchyma of both lungs (SUV 11.5), both thoracic pleura (SUV 9.0), both paratracheal lymph nodes (SUV Rt. 8.4/Lt 7.1), lymph nodes in the AP window (SUV 9.6), subcarinal lymph nodes (SUV 8.6), both hilar lymph nodes (SUV Rt. 10.2/Lt. 13.7), both interlobar lymph nodes (SUV Rt. 10.7/Lt. 13.2), and paraesophageal lymph nodes (SUV 4.8).", "modalities": ["ct", "pet/spect/nuclear"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/25038768/fig/2.jpg"], "caption": "(A) Chest computed tomography, sagittal view, mediastinal setting. (B) Chest computed tomography, axial view, mediastinal setting. (C) Chest computed tomography, lower and upper subpleural lungs.", "detailed_caption": "Chest computed tomography scan. (A, B) Multiple lymphadenopathies were seen on both sagittal (A) and axial (B) sections in a mediastinal setting. (C) Faint ground-glass opacities and fine reticular densities were observed on both lower lungs. These findings were also observed on both upper subpleural lungs.", "modalities": ["ct"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/25038768/fig/3.jpg"], "caption": "(A) Mediastinal lymph node tissue, H&E staining, 100× magnification. (B) Mediastinal lymph node tissue, H&E staining, 200× magnification. (C) Mediastinal lymph node tissue, H&E staining, 400× magnification.", "detailed_caption": "Pathologic findings for the mediastinal lymph node tissue. Chronic non-caseating granulomatous inflammation was observed (H&E staining; A, ×100; B, ×200; C, ×400).", "modalities": ["pathology"]}], "diagnosis": "Pulmonary sarcoidosis", "standardized_diagnosis": [{"original_term": "Pulmonary sarcoidosis", "corrected_term": null, "code": "4B20.0", "title": "Sarcoidosis of lung", "chapter": "Diseases of the immune system", "primary": true}]}, "year": 2014, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "25372111", "patient_info": {"basic_info": "Young female European traveler presented to a medical clinic in central Australia with vaginal discharge. She reported having sex with a new partner (another European traveler) 1 week previously in Sydney.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/25372111/tab/1.jpg"], "caption": "Laboratory test results for N. gonorrhoeae strain A8806: ceftriaxone MIC 0.5 mg/liter, penicillin G MIC 1 mg/liter, ciprofloxacin MIC 32 mg/liter, azithromycin MIC 0.25 mg/liter, spectinomycin MIC ≤64 mg/liter.", "detailed_caption": "Laboratory testing revealed N. gonorrhoeae strain A8806 with the following characteristics: - Ceftriaxone MIC: 0.5 mg/liter (resistant) - Penicillin G MIC: 1 mg/liter (resistant/intermediate) - Ciprofloxacin MIC: 32 mg/liter (resistant) - Azithromycin MIC: 0.25 mg/liter (susceptible) - Spectinomycin MIC: ≤64 mg/liter (susceptible)", "modalities": ["lab"]}], "diagnosis": "Neisseria gonorrhoeae infection with a new multidrug-resistant strain (A8806)", "standardized_diagnosis": [{"original_term": "Neisseria gonorrhoeae infection", "corrected_term": null, "code": "1A7Z", "title": "Infections due to Neisseria gonorrhoeae", "chapter": "Diseases of the genitourinary system", "primary": true}]}, "year": 2014, "classification": "Infectious and immunologic disorders"}
+{"pmid": "25231052", "patient_info": {"basic_info": "A 49-year-old man presented to the emergency department with acute onset pain in the right upper quadrant and epigastric pain radiating to his back. Over the past 24-36 hours, he had experienced nausea and vomiting as well as dark urine and pale stools, and he had developed several painful lumps on his abdomen and upper limbs. On examination, his abdomen was soft but notably tender in the epigastrium and right upper quadrant, with no palpable intra-abdominal masses or organomegaly. Blood tests on admission showed deranged liver function tests, as well as a raised amylase (20.8 μkat/L; reference range <1.67) and C reactive protein (1181 nmol/L; <95). His full blood count and urea and electrolytes were normal. Urine analysis was positive for bilirubin and protein.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/25231052/fig/1.jpg"], "caption": "Magnetic retrograde cholangiopancreatogram of the abdomen. Abdominal ultrasound of the gallbladder. MRCP of the abdomen, maximal common bile duct diameter 6 mm.", "detailed_caption": "Magnetic retrograde cholangiopancreatogram showing the descending duodenum, gallstones within the contracted gall bladder, a cystic duct, the right hepatic duct, left hepatic duct, common hepatic duct, and common bile duct. Abdominal ultrasound showed a thick walled gallbladder containing several small calculi. MRCP showed a contracted gallbladder containing several stones, a common bile duct dilated to a maximal diameter of 6 mm with no visible stones or filling defects, and areas of likely subcutaneous fat necrosis throughout the abdominal wall and upper limbs.", "modalities": ["mri", "ultrasound"]}], "diagnosis": "Gallstone pancreatitis with pancreatic panniculitis", "standardized_diagnosis": [{"original_term": "Gallstone pancreatitis", "corrected_term": null, "code": "DC31.2", "title": "Gallstone pancreatitis", "chapter": "Diseases of the digestive system", "primary": true}, {"original_term": "Pancreatic panniculitis", "corrected_term": null, "code": "EF00.0", "title": "Pancreatic enzyme panniculitis", "chapter": "Diseases of the skin", "primary": false}]}, "year": 2014, "classification": "Gastrointestinal disorders"}
+{"pmid": "25287948", "patient_info": {"basic_info": "A 56-year-old Ethiopian male immigrant was admitted with persistent fever and chills, cough, night sweats, and weight loss. He had a past medical history significant for a type A thymoma that was resected 3 years prior to admission. He reported a history of fatigue and dyspnea on exertion, as well as recurrent sinopulmonary infections that intermittently responded to antibiotics, with these infections often recurring in the setting of irritable bowel syndrome D (IBS-D) symptoms hallmarked by diarrhea. At admission, he had a low-grade fever with otherwise normal vital signs and oxygen saturation on room air. Blood tests showed an absolute lymphocyte count of 1,000 cells/μL and hemoglobin of 11.7 g/dL, with additional abnormalities including decreases in albumin and protein levels. Cultures of blood, sputum and urine were negative for an extensive workup including HIV, cytomegalovirus, acid-fast bacillus, Histoplasma, Aspergillus and coccidioidomycosis. On the second day of hospitalization, induced sputum was positive for Pneumocystis jiroveci and Moraxella catarrhalis. Biopsy of the cavitary lesion showed ulceration with acute and chronic inflammation, with cultures from transbronchial biopsy being negative, GMS staining negative for fungal organisms, and no evidence of malignancy. He showed no antibody response to any of the 14 pneumococcal serotypes examined, and lymphocyte proliferation assay demonstrated significantly decreased response to tetanus and candida compared to normal control.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/25287948/fig/1.jpg"], "caption": "CT scan of the chest.", "detailed_caption": "CT scan of the chest shows an irregular, cavitating soft-tissue right hilar mass involving the posterior segment of the right upper lobe and superior segment of the right lower lobe, with focal areas of mucous impaction and bronchiectasis with multiple diffuse scattered clusters of bronchocentric micronodules, many in a tree-in-bud nodularity", "modalities": ["ct"]}, {"type": "tab", "id": 1, "subfig": null, "path": ["images/25287948/tab/2.jpg"], "caption": "Laboratory results: lymphocyte subset enumeration and immunoglobulin levels.", "detailed_caption": "Lymphocyte and immunoglobulin enumeration shows low CD3 (540/cmm, normal 841-2,402), low CD4 (250/cmm, normal 355-1,426), normal CD8 (264/cmm, normal 255-1,090), profoundly deficient CD19 (1/cmm, normal 10-590), normal CD16&56 NK cells (93/cmm, normal 71-477), severely low IgA (20 mg/dL, normal 80-400), severely low IgG (176 mg/dL, normal 690-1,660), and severely low IgM (<5 mg/dL, normal 37-318)", "modalities": ["lab"]}], "diagnosis": "Good's syndrome", "standardized_diagnosis": [{"original_term": "Good's syndrome", "corrected_term": null, "code": "4B40.2", "title": "Good syndrome", "chapter": "Diseases of the immune system", "primary": true}]}, "year": 2014, "classification": "Infectious and immunologic disorders"}
+{"pmid": "25336332", "patient_info": {"basic_info": "A 47-year-old man presented to his primary care physician with a six-month history of left-sided sore throat, ipsilateral otalgia, and a six-week history of a left-sided neck mass. He had never smoked and drank less than 5 units of alcohol per week. On examination in the ENT clinic, a firm fixed lymph node was palpable in the upper anterior triangle.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/25336332/fig/1.jpg"], "caption": "Ultrasound of lymph nodes, left side. Fine needle aspiration cytology.", "detailed_caption": "Ultrasound image showing a rounded hypoechoic lymph node, with multiple left-sided pathological lymph nodes identified. Fine needle aspiration cytology confirmed metastatic squamous cell carcinoma.", "modalities": ["ultrasound", "pathology"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/25336332/fig/2.jpg"], "caption": "CT, axial view, contrast enhanced, tonsillar region.", "detailed_caption": "Axial contrast enhanced computed tomography showing a left-sided tonsillar mass (red arrow) and associated ipsilateral lymphadenopathy (black arrow). The tonsil primary tumor was confirmed to be greater than 4 cm with no evidence of invasion of adjacent structures.", "modalities": ["ct"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/25336332/fig/3.jpg"], "caption": "Fused axial positron emission tomography-computed tomography (PET-CT) of the neck, axial view.", "detailed_caption": "Fused axial positron emission tomography-computed tomography image showing a metabolically active tonsillar tumor (red arrow) and ipsilateral lymph node (black arrow). The scan detected no additional disease and confirmed metabolically active disease in the neck.", "modalities": ["ct", "pet/spect/nuclear"]}], "diagnosis": "Metastatic squamous cell carcinoma with primary tonsillar tumor", "standardized_diagnosis": [{"original_term": "Squamous cell carcinoma of tonsil", "corrected_term": null, "code": "2B69.0", "title": "Squamous cell carcinoma of tonsil", "chapter": "Neoplasms", "primary": true}, {"original_term": "Metastatic squamous cell carcinoma", "corrected_term": null, "code": "2C31.Z", "title": "Cutaneous squamous cell carcinoma", "chapter": "Neoplasms", "primary": false}]}, "year": 2014, "classification": "Neoplastic diseases"}
+{"pmid": "25282086", "patient_info": {"basic_info": "80-year-old woman with 6-month history of slowly increasing asymptomatic lumbar subcutaneous mass. History of chronic renal failure requiring dialysis three times weekly for 10 years. Poor compliance with phosphate-binding medications and dietary restrictions. Physical exam showed firm, immobile subcutaneous nodule measuring 9 cm in major axis. Laboratory findings: serum calcium 1.95 mmol/L (normal: 2.05-2.55), serum phosphorus 3.3 mmol/L (normal: 0.74-1.52), serum intact parathyroid hormone 142 ng/L (normal: 10-65), serum creatinine 787 μmol/L (normal: 53-106).", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/25282086/fig/1.jpg"], "caption": "Clinical photograph of the right lumbar area at the time of physical examination.", "detailed_caption": "A: An irregularly shaped subcutaneous mass with a normal surface is shown on the right lumbar area in a clinical photograph, depicting the anatomical site on the patient’s back at the time of physical examination.", "modalities": ["clinical"]}, {"type": "fig", "id": 1, "subfig": "B,C", "path": ["images/25282086/fig/2.jpg"], "caption": "(B) CT, transverse slice. (C) Three-dimensional CT, subcutis.", "detailed_caption": "(B) CT transverse slice. (C) Three-dimensional CT showing lobular calcified mass with fibrous capsule in the subcutis.", "modalities": ["ct"]}, {"type": "fig", "id": 1, "subfig": "D", "path": ["images/25282086/fig/3.jpg"], "caption": "^67Ga-scintigraphy of the right lumbar region.", "detailed_caption": "67Ga-scintigram showed abnormal gallium accumulation corresponding to the right lumbar mass, with no other pathological uptake", "modalities": ["pet/spect/nuclear"]}], "diagnosis": "Secondary tumoral calcinosis", "standardized_diagnosis": [{"original_term": "Secondary tumoral calcinosis", "corrected_term": null, "code": "5C64.5", "title": "tumoural calcinosis", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": true}]}, "year": 2014, "classification": "Endocrine and metabolic disorders"}
+{"pmid": "25433660", "patient_info": {"basic_info": "A 16-year-old male presented with bilateral breast enlargement that had been present for 4 years, causing social withdrawal and avoidance of outdoor activities. He had a history of hypospadias requiring surgical correction at 1 year of age. Physical examination revealed height of 161 cm, weight of 57.8 kg (BMI 22.3 kg/m²), and blood pressure of 120/80 mmHg. His pubertal development showed normal progression overall, but both breasts were enlarged (Tanner stage III). Pubic hair development was at Tanner stage V, bilateral testicular volume was 15 mL (Tanner stage IV). Complete blood count, biochemistry, and urinalysis were normal. Endocrine testing showed testosterone level of 50.83 nmol/L (normal 9.7-27.8), DHEA level of 15.03 nmol/L (normal 6.2-43.3), DHEA-S level of 5,120 nmol/L (normal 1,600-12,200), 17-hydroxyprogesterone level of 6.61 nmol/L (normal 1.88-10.94), LH level of 11.5 IU/L (normal 1.7-8.6), FSH level of 5.5 IU/L (normal 1.5-12.4), estradiol level of 0.191 mmol/L (normal 0.026-0.147), β-hCG level of <0.1 IU/L (normal <2.6), prolactin of 21.7 pg/L (normal 4.0-15.2), free T4 level of 18.9 pmol/L (normal 11.9-21.9), and TSH level of 2.43 mIU/L (normal 0.27-4.2). His karyotype was 46,XY.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/25433660/fig/1.jpg"], "caption": "(A) Clinical photograph, anterior view. (B) Clinical photograph, lateral view.", "detailed_caption": "Shows bilateral gynecomastia from anterior and lateral views, demonstrating breast enlargement in the male patient", "modalities": ["clinical"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/25433660/fig/2.jpg"], "caption": "Clinical photograph of the external genitalia, anterior view.", "detailed_caption": "Figure 2 depicts a clinical photograph of the external genitalia demonstrating a micropenis, illustrating the anatomical finding in this partial androgen insensitivity syndrome patient; the image provides a direct anterior view, and no additional imaging or staining modalities are employed.", "modalities": ["clinical"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/25433660/fig/3.jpg"], "caption": "(A) Androgen receptor gene sequencing analysis, exon 4, comparison between normal and patient sequences.", "detailed_caption": "Androgen receptor gene sequencing results showing somatic mosaicism (c.2128G>A, p.Glu710Lys) in exon 4, with comparison between normal and patient sequences", "modalities": ["genetic"]}], "diagnosis": "Partial androgen insensitivity syndrome", "standardized_diagnosis": [{"original_term": "Partial androgen insensitivity syndrome", "corrected_term": null, "code": "LD2A.4", "title": "Partial androgen insensitivity", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": true}]}, "year": 2015, "classification": "Endocrine and metabolic disorders"}
+{"pmid": "25184868", "patient_info": {"basic_info": "A 27-year-old primigravid woman from Brazil at 25 weeks 5 days of gestation presented to the emergency department with acute respiratory distress that developed the evening before. She experienced progressively worsening cough productive of blood-tinged, frothy sputum, shortness of breath, and chest pain, but denied fevers, chills, hemoptysis, lower-extremity edema, or calf pain. She reported regular fetal movement with no uterine contractions. Her pregnancy had been uncomplicated with regular prenatal care, and she had no history of serious medical conditions. She immigrated from Brazil to Massachusetts 7 years earlier and her family history was negative for venous thrombosis and pulmonary or cardiovascular disease. On examination, she appeared in acute respiratory distress with accessory muscle use, temperature 37.4°C, pulse 144 beats per minute, blood pressure 142/80 mmHg, respiratory rate 30 breaths per minute, and oxygen saturation 76% on room air improving to 85% with 70% oxygen via nonrebreather mask. She had elevated jugular venous pressure to the angle of the jaw, diffuse bilateral rales, tachycardia, no murmurs, normal abdomen, fundal height 23 cm, fetal heart rate 130-140 bpm, closed cervix, warm extremities with 2+ pedal pulses bilaterally, and no edema.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/25184868/fig/1.jpg"], "caption": "Chest radiograph of both lungs.", "detailed_caption": "Chest radiograph shows diffuse air-space opacities with butterfly-like appearance throughout both lungs, prominence of the right minor fissure, dilatation of the proximal pulmonary artery, and left atrial enlargement", "modalities": ["x-ray"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/25184868/fig/2.jpg"], "caption": "Electrocardiogram.", "detailed_caption": "Electrocardiogram shows sinus tachycardia with broad, notched P waves (P mitrale) in lead II and prominent negative P waves in lead V1, findings consistent with left atrial enlargement", "modalities": ["electrophysiology"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/25184868/fig/3.jpg"], "caption": "(A) Echocardiogram, parasternal long-axis view. (B) Echocardiogram, apical four-chamber view. (C) Continuous-wave Doppler imaging, mean mitral-valve pressure gradient=20 mm Hg.", "detailed_caption": "A parasternal long-axis view (Panel A) and an apical four-chamber view (Panel B) show normal left ventricular size, left atrial (LA) enlargement, and thickening of the mitral-valve leaflets (arrows) (see Videos 1 and 2). Continuous-wave Doppler imaging (Panel C) shows a mean mitral-valve pressure gradient of 20 mm Hg. The findings are consistent with severe rheumatic mitral stenosis.", "modalities": ["ultrasound"]}], "diagnosis": "Severe rheumatic mitral stenosis", "standardized_diagnosis": [{"original_term": "Rheumatic mitral stenosis", "corrected_term": null, "code": "BB60.0", "title": "Rheumatic mitral valve stenosis", "chapter": "Diseases of the circulatory system", "primary": true}]}, "year": 2014, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "25409375", "patient_info": {"basic_info": "An 18-year-old woman was initially well until developing headache and sore throat without fever two weeks prior to current admission. Her medical history included dysmenorrhea treated with norethindrone acetate and ethinyl estradiol oral contraceptives, and asthma. She was allergic to penicillins (caused urticaria) and possibly allergic to cephalosporins. She lived with family and attended high school, with no smoking, alcohol, or illicit drug use, and no travel exposures. She initially had a negative rapid streptococcal test, but during the subsequent days developed persistent throat pain, decreased oral intake, dehydration, weakness, and fevers up to 39.4°C. Laboratory findings showed white-cell count less than 2000 per cubic millimeter, positive IgG and IgM antibodies to EBV viral capsid antigen and EBV nuclear antigen antibodies, with negative influenza A and B, and CMV IgM and IgG antibodies. Pharyngeal culture grew group C streptococcus. Nine days before current admission, she developed trismus, jaw opening pain, and right facial/jaw swelling. Six days before admission, right parotid gland swelling and erythema persisted with fevers up to 38.3°C. Two days before current admission, right eyelid swelling and horizontal diplopia with decreased right eye abduction developed. On examination at Massachusetts Eye and Ear Infirmary, she was somnolent but arousable with normal vital signs. She had diffuse right preauricular and periorbital swelling, mild trismus, bilateral cervical lymphadenopathy (greater on right), and right-sided preauricular and postauricular lymphadenopathy. White plaque was visible on gingivobuccal sulcus and anterior tongue that was painful when scraped. The right parotid gland was tender with no fluid discharge from Stensen's duct. Neurologically, the right eye had medial deviation with inability to abduct past midline, supraduction limited by 50%, and mild tandem walking difficulty. Visual acuity was 20/30 right eye and 20/20 left eye. She had 1+ lateral clear chemosis of the right eye with minimal erythema and tenderness, and no palpable fluctuance. A grade 1/6 systolic murmur was heard at left lower sternal border.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/25409375/tab/1.jpg"], "caption": "Laboratory results. Urinalysis.", "detailed_caption": "Laboratory results showed hematocrit 28.0%, hemoglobin 9.8 g/dl, white-cell count 8290 per mm³ with 80.6% neutrophils and 11.3% lymphocytes, platelet count 119,000 per mm³, prothrombin time 15.8 sec with INR 1.2, glucose 173 mg/dl, glycated hemoglobin 5.9%, total protein 5.9 g/dl, albumin 2.3 g/dl, calcium 7.9 mg/dl, and phosphorus 3.3 mg/dl. Activated partial-thromboplastin time, red-cell indexes, renal-function tests, electrolytes, magnesium, globulin, angiotensin-converting enzyme, and IgG, IgA, and IgM levels were normal. Tests for heterophile antibodies, HIV types 1 and 2 antibodies, and HIV nucleic acid were negative. Urinalysis showed trace protein, 3+ glucose, and 2+ urobilinogen with squamous epithelial cells and bacteria suggesting contamination.", "modalities": ["lab"]}, {"type": "fig", "id": 1, "subfig": null, "path": ["images/25409375/fig/2.jpg"], "caption": "(A) MRI of the head, coronal view, T1-weighted with contrast. (B) MRI of the neck, coronal view, fat-saturated sequence. (C) MRI of the neck, axial view, diffusion-weighted imaging. (D, E) MRI of the right orbit, axial and coronal views, fat-saturated sequence.", "detailed_caption": "MRI Scans of the Head and Neck. T1‑weighted images of the head and neck were obtained after the administration of contrast material. A coronal image of the head shows temporal pachymeningeal enhancement and subtle leptomeningeal enhancement, findings suggestive of basilar and temporal meningitis (Panel A, arrows). A coronal fat‑saturated image (Panel B) and an axial diffusion‑weighted image (Panel C) show changes consistent with abscess formation in the right parotid gland (arrows). Axial and coronal fat‑saturated images (Panels D and E, respectively) show changes consistent with a subperiosteal abscess in the right orbit (arrows).", "modalities": ["mri"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/25409375/fig/3.jpg"], "caption": "Clinical photographs of the right periorbital region.", "detailed_caption": "Photographs showed periorbital erythema and edema surrounding the right eye, and conjunctival injection and chemosis.", "modalities": ["clinical"]}], "diagnosis": "Lemierre's syndrome caused by Fusobacterium necrophorum, with cavernous-sinus thrombophlebitis, carotid-artery thromboarteritis, and abscesses of the parotid gland and subperiosteal orbit", "standardized_diagnosis": [{"original_term": "Lemierre's syndrome", "corrected_term": null, "code": "DA90.0", "title": "THE - [tricho-hepato-enteric] syndrome", "chapter": "Diseases of the digestive system", "primary": true}, {"original_term": "Cavernous sinus thrombophlebitis", "corrected_term": null, "code": "8B22.1", "title": "nonpyogenic thrombophlebitis of cavernous sinus", "chapter": "Diseases of the nervous system", "primary": false}, {"original_term": "Carotid artery thromboarteritis", "corrected_term": null, "code": "8B10.Y", "title": "Carotid artery syndrome", "chapter": "Diseases of the nervous system", "primary": false}, {"original_term": "Parotid gland abscess", "corrected_term": null, "code": "DA04.3&XA44X8", "title": "abscess of parotid gland", "chapter": "Diseases of the digestive system", "primary": false}, {"original_term": "Subperiosteal orbital abscess", "corrected_term": null, "code": "9A21.1", "title": "Orbital subperiosteal abscess", "chapter": "Diseases of the visual system", "primary": false}]}, "year": 2014, "classification": "Infectious and immunologic disorders"}
+{"pmid": "25135825", "patient_info": {"basic_info": "A 62-year-old male patient presented with renal cell carcinoma requiring partial nephrectomy. His past medical history included stable chronic lymphocytic leukemia treated with rituximab and hypothyroidism under substitution with L-thyroxine. Five days after nephrectomy, he developed a progressive painful ulceration at the site of incision that was deep. The left lumbar area was indurated and erythematous. The patient became febrile and his white blood cells rose from 6,100 to 56,000/mm³, while C-reactive protein levels increased from 1.4 to 259 mg/L. Despite empirical antibiotic treatment with ciprofloxacin, then imipenem and doxycycline, his condition progressed relentlessly. Ultrasound and computer tomography scans failed to identify an abscess. Surgical wound revision did not identify any sign of bacterial infection. Preoperative, intraoperative, and postoperative wound cultures remained negative, however blood culture was positive for Staphylococcus haemolyticus.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/25135825/fig/1.jpg"], "caption": "(A) Clinical photograph of the left lumbar area obtained five days after nephrectomy.", "detailed_caption": "A: Figure 1 (A) depicts a clinical photograph showing extensive ulceration at the surgical incision site on the left lumbar area, following nephrectomy, characterized by a deep lesion with overhanging violaceous borders and surrounding indurated, erythematous skin that developed five days postoperatively.", "modalities": ["clinical"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/25135825/fig/2.jpg"], "caption": "Histology of the vital edge of the dermal debridement, H&E staining.", "detailed_caption": "Histology with haematoxylin and eosin staining of the vital edge of the dermal debridement shows pronounced phlegmonous and granulomatous nonspecific inflammation approximating the deep dermis and the subcutaneous fat tissue", "modalities": ["pathology"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/25135825/fig/3.jpg"], "caption": "Immunohistochemistry.", "detailed_caption": "Immunohistochemistry shows the inflammatory infiltrate mostly consisted of myeloperoxidase positive granulocytes with only few concomitant lymphocytes", "modalities": ["pathology"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/25135825/fig/4.jpg"], "caption": "Immunohistochemistry for CD79a.", "detailed_caption": "Immunohistochemistry shows no indication of an appreciable CD79a positive B-lymphoid cell population", "modalities": ["pathology"]}], "diagnosis": "Postoperative pyoderma gangrenosum in association with chronic lymphocytic leukemia and renal cell carcinoma", "standardized_diagnosis": [{"original_term": "Postoperative pyoderma gangrenosum", "corrected_term": null, "code": "EB21", "title": "Pyoderma gangrenosum", "chapter": "Diseases of the skin", "primary": true}, {"original_term": "Chronic lymphocytic leukemia", "corrected_term": null, "code": "2A82.00", "title": "chronic lymphocytic leukaemia", "chapter": "Neoplasms", "primary": false}, {"original_term": "Renal cell carcinoma", "corrected_term": null, "code": "2C90.0", "title": "renal cell carcinoma NOS", "chapter": "Neoplasms", "primary": false}]}, "year": 2013, "classification": "Dermatologic and mucosal diseases"}
+{"pmid": "25922639", "patient_info": {"basic_info": "A 35-year-old female with a history of intermittent rhinitis presented with a 5-day history of urticaria, fever, headaches, myalgia and arthralgia. She developed pruriginous and painful wheals and erythematous maculae more than 1 cm in diameter with a burning sensation on her limbs. The lesions lasted more than 24 hours and caused alteration of skin pigmentation. Angioedema was present in hands, fingers, ankles and feet, leaving no pitting. She experienced severe headaches and myalgia that impaired her daily activities, and fever spiked as high as 39.5°C. The patient had been taking over-the-counter diet pills eighteen days before symptom onset and had previously consulted six days earlier for dehydration and violaceous hives in her palms, after which she discontinued the pills. Physical examination revealed large confluent areas of wheals and maculae on limbs, with patient-scored pruritus intensity of 6/10 and complaints of muscular pain. Laboratory findings showed normal hemoglobin concentration, lymphopenia, and elevated C-reactive protein at 7.5 mg/L (normal <5 mg/L), while complement components, liver function tests, urea, creatinine, plasma sodium, glucose, thyroid hormones and antibodies were within normal ranges, and antinuclear antibodies were not detectable. Skin biopsy revealed slight alteration of vacuolar interface, papillary dermis edema, and moderate superficial and perivascular infiltrate of lymphocytes and eosinophils with focal fibrin deposits in blood vessel walls and extravasation of erythrocytes.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/25922639/fig/1.jpg"], "caption": "Clinical photograph of the trunk, back, and abdomen.", "detailed_caption": "Shows wheals and erythematous maculae found in trunk, back and abdomen", "modalities": ["clinical"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/25922639/fig/2.jpg"], "caption": "Clinical photograph of the ankle during the acute presentation.", "detailed_caption": "Figure 2 depicts a clinical photograph showing the patient’s ankle with wheals and erythematous maculae, demonstrating the cutaneous manifestations of urticarial vasculitis at this anatomical site during the acute presentation.", "modalities": ["clinical"]}], "diagnosis": "Urticarial Vasculitis induced by OTC diet pills", "standardized_diagnosis": [{"original_term": "Urticarial vasculitis", "corrected_term": null, "code": "EF40.10", "title": "Urticarial vasculitis", "chapter": "Diseases of the skin", "primary": true}]}, "year": 2015, "classification": "Dermatologic and mucosal diseases"}
+{"pmid": "25705383", "patient_info": {"basic_info": "An 83-year-old woman with hypertension was diagnosed with biopsy-proven vaginal melanoma four months prior to admission. She had invasive loco-regional disease and a three-millimeter nodule in the left upper lung lobe on PET-CT. She had received four cycles of ipilimumab (3 mg/kg every three weeks), with the last dose administered three weeks prior to hospitalization. The patient had developed pruritus, lethargy, and malaise after the third dose and diarrhea after the fourth dose of ipilimumab. Prior to admission, she experienced two weeks of fairly continuous worsening substernal chest pain and progressive dyspnea. On admission, she denied acute emotional stress, illicit drug use, or herbal medication use. Electrocardiography revealed sinus tachycardia at 110/minute and 1 millimeter ST elevations in leads I, V2, and V3. The initial troponin-I level was 0.98 (normal <0.04) ng/ml, thyroid-stimulating hormone was 2.6 (0.4-4.0) mIU/L, and the erythrocyte sedimentation rate was 65 (<20) mm/hour. Transthoracic echocardiography showed an ejection fraction of 50% and LV outflow tract obstruction with a peak gradient of 100 mmHg with systolic anterior motion of the mitral valve. Emergent cardiac angiography demonstrated an isolated 30% proximal left anterior descending artery stenosis without evidence of a thrombus.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/25705383/fig/1.jpg"], "caption": "(A) Ventriculogram during diastole. (B) Ventriculogram during systole.", "detailed_caption": "Ventriculogram during diastole (left) and systole (right). While the left ventricular apex in these two images appears nearly akinetic, the remaining left ventricle is hyperkinetic.", "modalities": ["angiography"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/25705383/fig/2.jpg"], "caption": "(A) Coronal PET/CT, left ventricular apex. (B) Axial PET/CT, chest.", "detailed_caption": "Coronal (left) and axial (right) PET/CT showing a focus of mildly increased FDG uptake corresponding to ballooning of the left ventricular apex. Additional findings at the axial level through the chest include FDG-avid metastatic lung nodules in the right upper lobe, small right pleural effusion and a large hiatal hernia.", "modalities": ["ct", "pet/spect/nuclear"]}], "diagnosis": "Takotsubo cardiomyopathy-like syndrome", "standardized_diagnosis": [{"original_term": "Takotsubo cardiomyopathy-like syndrome", "corrected_term": null, "code": "BC43.5", "title": "Takotsubo cardiomyopathy", "chapter": "Diseases of the circulatory system", "primary": true}]}, "year": 2015, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "25852914", "patient_info": {"basic_info": "39-year-old woman with renal failure secondary to congenital kidney malformation, on haemodialysis 3 days/week for 17 years. Presented with sudden onset bilateral reduction of vision occurring soon after waking. One day prior, experienced visual obscurations in left eye after waking, described as temporary episodes of blurred vision lasting ~2 minutes. No headache reported. On examination: Snellen visual acuities were 6/5 right eye and 6/9.5 left eye. Had recently been diagnosed with episodes of hypotension associated with dizziness in mornings. Haemoglobin was 7.5 mmol/L. Blood pressure had typically been 110-120/80. MRI brain was normal.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/25852914/fig/1.jpg"], "caption": "(A) Color fundus photography of the optic disc, right eye. (B) Color fundus photography of the optic disc, left eye.", "detailed_caption": "Figure 1 consists of fundus photographs of the right and left eyes, demonstrating bilateral optic disc swelling. The modality is color fundus photography, and the anatomical site examined is the optic disc of both eyes. The images were acquired in the context of acute bilateral visual loss occurring shortly after a hemodialysis session, as described in Case 1. The photographs show clear disc swelling in both eyes, with more pronounced swelling in the left eye, but do not depict hemorrhages, exudates, or other retinal abnormalities.", "modalities": ["ophthalmic imaging"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/25852914/fig/2.jpg"], "caption": "(A) Humphrey visual field chart of the right eye. (B) Humphrey visual field chart of the left eye.", "detailed_caption": "Figure 2 consists of Humphrey visual field charts for the right and left eyes, illustrating bilateral inferior altitudinal visual field loss in both eyes, consistent with the characteristic visual defect of non-arteritic anterior ischaemic optic neuropathy in the context of dialysis-induced hypotension, as described in the body text and confirmed by the figure caption on page 2.", "modalities": ["ophthalmic imaging"]}], "diagnosis": "Bilateral non-arteritic anterior ischaemic optic neuropathy (NAAION) secondary to dialysis-induced hypotension", "standardized_diagnosis": [{"original_term": "Bilateral non-arteritic anterior ischaemic optic neuropathy", "corrected_term": null, "code": "9C40.40", "title": "Non-arteritic anterior ischemic optic neuropathy", "chapter": "Diseases of the visual system", "primary": true}, {"original_term": "Dialysis-induced hypotension", "corrected_term": null, "code": "BA2Y", "title": "drug-induced hypotension", "chapter": "Diseases of the circulatory system", "primary": false}]}, "year": 2014, "classification": "Neurological disorders"}
+{"pmid": "25653495", "patient_info": {"basic_info": "An 8-year-old Korean boy presented with severe global developmental delay and multiple exostoses. He was born to healthy non-consanguineous Korean parents after 40 weeks gestation with a birth weight of 2,400 g (<3rd percentile) and had no perinatal problems. Developmental delay was first noted at 3 months of age due to incomplete eye contact and head control. Physical examination revealed hypotonia, ptosis, nystagmus, and microcephaly. At age 6 years, his growth was severely retarded with height 96 cm (<3rd percentile), weight 15.7 kg (<3rd percentile), and head circumference 45 cm (<3rd percentile). Facial features showed sparse eyebrows, nystagmus, prominent nasal bridge, hypoplastic nare, down-turned mouth, and high arched palate. He was hypotonic and could not sit or walk alone. At age 5 years, his full-scale Intelligence Quotient was less than 30, indicating severe intellectual disability, with a social quotient of 17.8 and social age of 0.91 years. Multiple exostoses were first noted as protrusions of the right wrist and knee at age 6 years. Peripheral blood chromosome analysis showed a normal karyotype of 46,XY.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/25653495/fig/1.jpg"], "caption": "(A) Skeletal survey of the humerus, performed at age 6 years. (B) Skeletal survey of the wrists, performed at age 6 years. (C) Skeletal survey of the proximal femora, performed at age 6 years. (D) Skeletal survey of the distal femora and proximal tibia and fibula, performed at age 6 years.", "detailed_caption": "Skeletal survey of long bones at age 6 yr. Multiple exostoses (arrows) of the metadiaphyseal portion of the humerus (A), wrists (B), and proximal femora (C) and at the distal femora and proximal tibia and fibula are evident.", "modalities": ["x-ray"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/25653495/fig/2.jpg"], "caption": "(A) Skull radiograph, frontal view, at age 4 months. (B) Skull radiograph, lateral view, at age 4 months. (C) Skull 3-D reconstruction image at age 4 months. (D) Skull 3-D reconstruction image at age 8 years.", "detailed_caption": "Serial changes of biparietal foramena in the skull. Frontal (A) and Lateral (B) radiographs taken at age 4 months. Large biparietal foramina are noted (arrows). 3-D reconstruction image (C) of the skull at age 4 months shows enlarged biparietal foramina acrossing midline (arrows). Follow up skull 3-D reconstruction image (D) at age 8 yr shows persistent biparietal foramina (arrows).", "modalities": ["x-ray"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/25653495/fig/3.jpg"], "caption": "Chromosomal microarray.", "detailed_caption": "Result of chromosomal microarray. The red bar indicates an 8.6 Mb deletion at 11p11.2p12 including EXT2, ALX4, and PHF21A.", "modalities": ["genetic"]}], "diagnosis": "Potocki-Shaffer syndrome", "standardized_diagnosis": [{"original_term": "Potocki-Shaffer syndrome", "corrected_term": null, "code": "LD44.B1", "title": "Potocki-Shaffer syndrome", "chapter": "Developmental anomalies", "primary": true}]}, "year": 2015, "classification": "Genetic and congenital disorders"}
+{"pmid": "25653707", "patient_info": {"basic_info": "A 39-year-old man with a history of current smoking and no other medical history presented with left-sided squeezing chest pain that was worse in the early morning after drinking alcohol and lasted 30 minutes. Initial vital signs showed blood pressure of 132/89 mmHg and pulse rate of 98 beats/minute. Initial laboratory findings revealed creatine kinase 118 U/L (normal 58-348), CK-MB 1.7 ug/L (normal 0-5.0), elevated highly sensitive troponin-T 0.027 ng/mL (normal 0-0.014), and microcytic hypochromic anemia with hemoglobin 9.8 g/dL. Echocardiography showed normal-sized cardiac chambers with good left ventricular systolic function (ejection fraction of 61%) and no regional wall motion abnormality.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/25653707/fig/1.jpg"], "caption": "12-lead electrocardiogram performed on admission.", "detailed_caption": "Figure 1 presents a standard 12-lead electrocardiogram (ECG) obtained on admission, which demonstrates ST-segment depression in leads V3 to V5 and flattened T waves in leads II, III, and aVF, indicating the initial cardiac electrical activity at presentation.", "modalities": ["electrophysiology"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/25653707/fig/2.jpg"], "caption": "(A) Left coronary angiography. (B) Right coronary angiography. (C) Coronary angiography after stent implantation. (D) Intravascular ultrasound after overlapping stent implantation.", "detailed_caption": " Initial coronary angiography. A: left coronary angiography shows near total occlusion of the mid left anterior descending coronary artery and intermediate stenosis of the left circumflex coronary artery. B: right coronary artery shows significant stenosis at the mid portion. C: after stent implantation, coronary angiography shows a successful result. D: final intravascular ultrasound finding after overlapping stent does not show dissection, or stent malap-position, or stent underexpansion.", "modalities": ["angiography", "ultrasound"]}], "diagnosis": "Acute non-ST elevation myocardial infarction", "standardized_diagnosis": [{"original_term": "Acute non-ST elevation myocardial infarction", "corrected_term": null, "code": "BA41.1", "title": "Acute non-ST elevation myocardial infarction", "chapter": "Diseases of the circulatory system", "primary": true}]}, "year": 2015, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "26064517", "patient_info": {"basic_info": "A 16-year-old adolescent male presented with a 4-week history of weakness, malaise, anorexia, nausea, fever, and vomiting. There was no history of skin rash, joint pains, oral ulcers, or native/herbal medicinal intake. Physical examination revealed pallor, pitting pedal edema in both feet, and hypertension (160/90 mmHg), while systemic examination was otherwise unremarkable. Laboratory investigations showed hemoglobin of 90 g/L, total leukocyte count of 6600/cu mm, platelet count of 2×10^9/cu mm, dipstick albumin 3+ with 24-hour urine protein of 2.4 g, 15-20 red blood cells per high power field with RBC casts, blood urea of 46.4 mmol/L (130 mg/dL), and serum creatinine of 265.2 μmol/L (3 mg/dL) which rapidly progressed to 884 μmol/L (10 mg/dL) after 7 days. Antinuclear antibody and ANCA were negative by both ELISA and immunofluorescence. The patient tested negative for HBsAg, anti-hepatitis C antibody, and HIV. Serum complement levels were normal (C3/C4=120/40 IU/mL). Ultrasonography showed normal-sized kidneys (10 cm on either side) with normal pelvicalyceal system. Contrast-enhanced CT of chest and abdomen was normal, and ocular fundus examination was unremarkable.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/26064517/fig/1.jpg"], "caption": "Light microscopy of kidney biopsy. Direct immunofluorescence and electron microscopy of kidney tissue.", "detailed_caption": "Light microscopy of kidney biopsy revealed necrotizing glomerulonephritis with crescents, showing a glomerulus with cellular crescent and underlying glomerular tuft with segmental necrotising lesion with disruption of the glomerular basement membrane, fibrin exudation and presence of karyorrhectic debris indicating small vessel vasculitis. Direct immunofluorescence and electron microscopy did not reveal any immune complexes.", "modalities": ["pathology"]}], "diagnosis": "ANCA-negative renal-limited pauci-immune glomerulonephritis", "standardized_diagnosis": [{"original_term": "ANCA-negative renal-limited pauci-immune glomerulonephritis", "corrected_term": null, "code": "MF84", "title": "Pauci-immune proliferative glomerulonephritis", "chapter": "Diseases of the genitourinary system", "primary": true}]}, "year": 2013, "classification": "Genetic and congenital disorders"}
+{"pmid": "25929432", "patient_info": {"basic_info": "A 14-year-old girl presented with a 3-year history of continuous pain in the parietal and occipital regions of the scalp. The pain was described as oppressive and graded 5 out of 10 on a numerical pain rate scale. The patient did not identify any trigger factors. Neurological and general examinations were unremarkable with neither sensory symptoms nor local trophic changes present within the affected regions of the head. The occipital and auriculotemporal nerves were not tender to palpation. Brain magnetic resonance imaging and routine blood work-up with erythrocyte sedimentation rate and immunological screening showed no abnormalities. The patient had previously used acetaminophen with no substantial relief of symptoms.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/25929432/tab/1.jpg"], "caption": "Table of mean pressure pain thresholds measured in kPa at 25 scalp points including 21 EEG electrode positions and 4 symptomatic areas.", "detailed_caption": "Shows mean pressure pain thresholds (PPT) measured in kPa at 25 points across the scalp, including 21 standardized EEG electrode positions and 4 symptomatic areas. The symptomatic points (painful areas behind C3, C4, between O2-T4, and O1-T5) all showed identical lower PPT values of 147.1 kPa compared to surrounding areas which ranged from 106.1 to 225.6 kPa.", "modalities": ["lab", "clinical"]}, {"type": "fig", "id": 1, "subfig": null, "path": ["images/25929432/fig/2.jpg"], "caption": "Topographical pressure pain sensitivity map of the scalp using pressure algometry at 21 standard EEG points and four symptomatic areas.", "detailed_caption": "Figure 1 presents a topographical pressure pain sensitivity map of the scalp in a patient with multifocal nummular headache, created by assessing pressure pain thresholds (PPT) at 21 standard EEG points plus four symptomatic areas using a pressure algometer applied to the scalp; the map, depicted as a color-coded diagram on page 3, demonstrates four localized patches of reduced PPT corresponding to the painful regions, indicating discrete areas of mechanical hyperalgesia without generalized scalp involvement.", "modalities": []}], "diagnosis": "Multifocal nummular headache", "standardized_diagnosis": [{"original_term": "Multifocal nummular headache", "corrected_term": null, "code": "8A83", "title": "Nummular headache", "chapter": "Diseases of the nervous system", "primary": true}]}, "year": 2015, "classification": "Neurological disorders"}
+{"pmid": "25539108", "patient_info": {"basic_info": "A 57-year-old man with an 8-year history of HIV infection presented with a 3-week history of worsening left inguinal pain and enlarging hernia. He reported a 10-year history of bilateral inguinal hernias (left larger than right) with intermittent bulging that was previously easily reducible. Three months prior, pain associated with the bulging increased. During the 3 weeks before presentation, he developed intermittent subjective fevers with associated night sweats, and noted hard, tender lumps next to the hernia. The night before presentation, his oral temperature reached 38.1°C. He was a heterosexual white man with a well-controlled HIV infection (most recent CD4 count 250/mm³, undetectable viral load on antiretroviral therapy). Past medical history was notable for Kaposi's sarcoma 8 years prior, molluscum contagiosum, anal dysplasia, pulmonary Mycobacterium avium complex infection, pneumocystis pneumonia, thrush, preseptal cellulitis, and cryptosporidium-related diarrhea. He reported no recent sexual activity (last contact 2 years prior with condom use), smoked cigarettes for 30 years, drank 1-2 alcoholic beverages daily, and had a 22-year-old cat. Physical examination revealed temperature 36.8°C, blood pressure 155/79 mmHg, pulse 82 bpm, and normal oxygen saturation. He had easily reducible bilateral inguinal hernias with bulky, slightly tender lymphadenopathy including three large lymph nodes (maximum diameter 3 cm) in the left inguinal region.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/25539108/tab/1.jpg"], "caption": "Laboratory results on presentation.", "detailed_caption": "Laboratory results on presentation showed hematocrit 37.6%, hemoglobin 12.6 g/dl (both slightly below normal range for men), white cell count 12,100/mm³ (elevated), with neutrophilia at 83.9% and lymphopenia at 8.3%. Glucose was elevated at 144 mg/dl.", "modalities": ["lab"]}, {"type": "fig", "id": 1, "subfig": null, "path": ["images/25539108/fig/2.jpg"], "caption": "(A, B) CT scans with oral and intravenous contrast, axial view, left iliac and left inguinal regions. (C) CT scan with oral and intravenous contrast, coronal view, left inguinal region and liver.", "detailed_caption": "Axial (Panels A and B) and coronal (Panel C) images from CT scans that were obtained after the administration of oral and intravenous contrast material show lymphadenopathy in the left iliac and left inguinal regions. An enlarged lymph node in the left external iliac region (Panel A, arrow) measures 2.4 cm in the short‑axis dimension, and a partially visualized lymph node in the left inguinal region (Panel B, arrow) measures 2.2 cm in the short‑axis dimension. Both of these nodes contain an area of hypodensity consistent with necrosis. Other enlarged lymph nodes were also seen in the left inguinal region (Panel C, ellipse), as was enlargement of the liver (Panel C).", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/25539108/fig/3.jpg"], "caption": "(A–D) Inguinal lymph node biopsy, H&E staining. (E) Inguinal lymph node biopsy, Steiner silver staining. (F) Inguinal lymph node biopsy, Warthin–Starry silver staining.", "detailed_caption": "Lymph-Node–Biopsy Specimen (Hematoxylin and Eosin and Silver Stains). Hematoxylin and eosin staining of an inguinal lymph‑node–biopsy specimen reveals focal capsular thickening, follicular hyperplasia, and irregularly shaped microabscesses (Panels A through D, within black dashed lines), lined by epithelioid histiocytes (Panel D, contained by white dashed lines). Steiner silver staining (Panel E) and Warthin–Starry silver staining (Panel F) reveal black pigmented structures at the periphery of a microabscess.", "modalities": ["pathology"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/25539108/fig/4.jpg"], "caption": "(A, B) Lymph-node biopsy, immunohistochemical staining for Treponema pallidum.", "detailed_caption": " Lymph-Node–Biopsy Specimen (Immunohistochemical Stain). Immunohistochemical staining specific for Treponema pallidum reveals numerous coiled microorganisms (Panels A and B, stained in brown) outside and within the abscesses (Panel A, within dashed lines).", "modalities": ["pathology"]}], "diagnosis": "Necrotizing lymphadenitis due to Treponema pallidum (syphilis)", "standardized_diagnosis": [{"original_term": "Syphilis", "corrected_term": null, "code": "1A6Z", "title": "Syphilis, unspecified", "chapter": "Diseases of the genitourinary system", "primary": true}, {"original_term": "Necrotizing lymphadenitis", "corrected_term": null, "code": "4B2Y", "title": "Histiocytic necrotising lymphadenitis of Kikuchi and Fujimoto", "chapter": "Diseases of the immune system", "primary": false}]}, "year": 2014, "classification": "Infectious and immunologic disorders"}
+{"pmid": "26069743", "patient_info": {"basic_info": "A 44-year-old man was admitted to the hospital with prolonged diarrhea lasting one week, fever, and anuria. On admission, his blood pressure was severely elevated at 220/150 mmHg, but retinal fundoscopy showed no signs of malignant hypertension. Blood analysis revealed hemolytic anemia with hemoglobin of 6.9 g/dL, the presence of schistocytes in the blood smear, elevated lactate dehydrogenase at 1837 U/L, and a platelet count of 111,000/dL. The direct Coombs test was negative. He had acute renal failure with creatinine levels of 20.7 mg/dL. Laboratory studies showed normal C3, C4 and CH50 levels, and ADAMTS-13 activity was normal at 57%. Anti-nuclear, antiphospholipid, anti-topoisomerase III, and anti-ADAMTS-13 antibodies were all negative. Stool analysis was negative for Shiga-like toxin. Molecular genetic studies revealed normal plasmatic factor H at 26 mg/mL (normal range 12-56), 70% plasmatic concentration of factor I (normal range 71-115), and no antibodies against factor H. The expression of MCP on leukocytes was reduced at 51% compared to control (normal range 91-109), and genetic analysis identified a heterozygous mutation of intron 2 (c.286+1G>C) of the MCP gene. The patient's condition was resistant to standard treatment with plasmapheresis.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/26069743/fig/1.jpg"], "caption": "Renal biopsy performed in the second week after admission.", "detailed_caption": "Renal biopsy conducted the second week after admission showed renal arteriolar wall thickening, mild interstitial fibrosis and tubular atrophy areas, with occlusive thrombosis in several small- and medium-sized arteries with secondary ischemic glomerular changes and extensive acute tubular necrosis.", "modalities": ["pathology"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/26069743/fig/2.jpg"], "caption": "Renal biopsy performed 2.5 months after admission.", "detailed_caption": "Second renal biopsy performed 2.5 months after admission showed ischemic glomeruli and artery wall thickening with thrombotic microangiopathy changes, similar to those observed at the first biopsy with persistent thrombotic microangiopathic lesions and deterioration of interstitial fibrosis and tubular atrophy.", "modalities": ["pathology"]}], "diagnosis": "Atypical hemolytic uremic syndrome with MCP gene mutation", "standardized_diagnosis": [{"original_term": "Atypical hemolytic uremic syndrome", "corrected_term": null, "code": "3A10.Y", "title": "Atypical haemolytic uraemic syndrome", "chapter": "Diseases of the blood or blood-forming organs", "primary": true}, {"original_term": "MCP gene mutation", "corrected_term": null, "code": "8A02.12", "title": "PANK gene mutation", "chapter": "Diseases of the nervous system", "primary": false}]}, "year": 2012, "classification": "Genetic and congenital disorders"}
+{"pmid": "25358591", "patient_info": {"basic_info": "A 65-year-old male retired farmer presented with an inability to fully straighten the ring finger and little finger of his right hand, which had progressed over the past two years. He had recently noticed a 'rope like' swelling in his palm with no history of trauma. His medical history was unremarkable except for smoking cessation 10 years earlier with a 90 pack-year history. His father had a similar deformity. On examination, he had palpable cords to his middle, ring, and little fingers with palpable nodules on the volar aspect of all proximal phalanges, causing flexion contractures of the proximal interphalangeal joints. The cord and nodules in the ring finger were adherent to the overlying skin.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/25358591/fig/1.jpg"], "caption": "Clinical photograph of the right hand, volar aspect, showing metacarpophalangeal and proximal interphalangeal joints of the ring and little fingers.", "detailed_caption": "Shows contractures of the metacarpophalangeal and proximal interphalangeal joints of the ring finger and little finger of the right hand. The skin was affected on the volar aspect of the metacarpophalangeal joint of the ring finger.", "modalities": ["clinical"]}], "diagnosis": "Dupuytren's disease", "standardized_diagnosis": [{"original_term": "Dupuytren's disease", "corrected_term": null, "code": "FB51.0", "title": "Dupuytren's contraction or disease", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": true}]}, "year": 2014, "classification": "Orthopedic and connective tissue disorders"}
+{"pmid": "26487584", "patient_info": {"basic_info": "52-year-old woman initially diagnosed in 2007 with breast cancer. Pre-treatment staging was cT2cN0M0. Initial diagnostic testing showed: Estrogen receptors positive (40%), progesterone receptors negative, and ERBB2 testing showed 60% positivity (2+) but was not amplified by Fluorescence in situ Hybridization (FISH) on the primary surgical sample. In May 2010, she was found to have liver and retro-pectoral muscle metastases. By May 2014, molecular screening of retro-pectoral metastasis identified ERBB2 L869Q and CDH1 R63* mutations, without ERBB2 amplification. Pre-treatment liver function tests showed elevated transaminases (AST: 329 IU/L, ALT: 298 IU/L) and CA15-3 tumor marker was 3327 U/mL.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "B,C", "path": ["images/26487584/fig/1.jpg"], "caption": "CT of the liver, pre-treatment.", "detailed_caption": "Pre-treatment liver CT scan showing metastatic disease", "modalities": ["ct"]}], "diagnosis": "Metastatic pleomorphic invasive lobular breast carcinoma (ILC) with ERBB2 L869Q and CDH1 R63* mutations", "standardized_diagnosis": [{"original_term": "Pleomorphic invasive lobular breast carcinoma", "corrected_term": null, "code": "2C61.2", "title": "Invasive pleomorphic lobular carcinoma of breast", "chapter": "Neoplasms", "primary": true}, {"original_term": "Metastatic breast carcinoma", "corrected_term": null, "code": "2C6Y", "title": "Metastatic breast carcinoma [primary breast carcinoma spreading elsewhere]", "chapter": "Neoplasms", "primary": false}]}, "year": 2016, "classification": "Neoplastic diseases"}
+{"pmid": "25598693", "patient_info": {"basic_info": "An 80-year-old man presented with a one-month history of cough. He had a past medical history significant for colon cancer surgery performed 10 years prior, with no evidence of recurrent or metastatic disease. He also had a 10-year history of hypertension and atrial fibrillation. Laboratory tests, including serological tests for human immunodeficiency virus (HIV), revealed no abnormalities. Physical examination findings included chest radiography showing right pleural effusion and cardiomegaly. A few enlarged lymph nodes were noted at the right cardiophrenic angle. Initial cytological examination of pleural fluid and pleural biopsy using an Abram's needle were non-diagnostic.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/25598693/fig/1.jpg"], "caption": "CT, contrast-enhanced, right hemithorax.", "detailed_caption": "Contrast-enhanced CT showing pleural effusion and diffuse homogeneous pleural mass invading into extrapleural space in right hemithorax, with intercostal artery enveloped by parietal pleural and extrapleural masses demonstrating sandwich sign.", "modalities": ["ct"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/25598693/fig/2.jpg"], "caption": "F-18-fluorodeoxyglucose positron emission tomography.", "detailed_caption": "F-18-fluorodeoxyglucose positron emission tomography showing diffuse hypermetabolism in right pleural mass.", "modalities": ["pet/spect/nuclear"]}, {"type": "fig", "id": 1, "subfig": "C", "path": ["images/25598693/fig/3.jpg"], "caption": "Pleural biopsy, immunohistochemistry for CD-20 antigen, Epstein-Barr virus negative.", "detailed_caption": "Pleural biopsy revealing diffuse infiltration of small to medium-sized lymphoid cells with scant to moderate amount of clear cytoplasm, with monotonous infiltration of small B-cells expressing CD-20 antigen. Epstein-Barr virus was negative in the specimen.", "modalities": ["pathology"]}], "diagnosis": "Low grade marginal zone B-cell lymphoma", "standardized_diagnosis": [{"original_term": "Low grade marginal zone B-cell lymphoma", "corrected_term": null, "code": "2A85.2", "title": "Primary cutaneous marginal zone B-cell lymphoma", "chapter": "Neoplasms", "primary": true}]}, "year": 2015, "classification": "Neoplastic diseases"}
+{"pmid": "26120461", "patient_info": {"basic_info": "A 35-year-old woman presented with severe hypertension, oedema and renal failure. She had a medical history significant for a pregnancy 12 months earlier that was complicated by preeclampsia, requiring Caesarean delivery at 29 weeks gestation. Following delivery, she developed poorly controlled hypertension and proteinuria exceeding 1 g/day. Six months before this admission, she began experiencing fatigue, headaches, severe hypertension, and facial and pedal oedema. She denied fever, neurologic abnormalities, or diarrhoeal prodrome. Physical examination revealed a pale, hydrated woman with blood pressure of 151/103 mmHg. Laboratory investigations showed severe anemia (hemoglobin 4.65 mmol/L or 7.5 g/dL), significant renal dysfunction (urea 182 mg/dL, creatinine 65 mmol/L or 6.46 mg/dL), thrombocytopenia (platelets 46 × 10⁹/L), increased reticulocyte count, and schistocytes on peripheral blood smear. Urinalysis revealed proteinuria of 4.9 g/24h and 5-10 red blood cells per high-power field. Additional laboratory findings included elevated lactate dehydrogenase (1669 U/L), total bilirubin 14 mg/L, direct bilirubin 4.4 mg/L, low haptoglobin (<0.2 mg/dL), and negative Coombs test. Normal liver enzymes were noted. All immunologic tests, viral screening, and antiphospholipid antibodies were normal.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/26120461/fig/1.jpg"], "caption": "(A–C) Clinical photographs of leg skin lesions before plasmapheresis.", "detailed_caption": "(A) Leg skin lesions with purplish colour before plasmapheresis. (B) Leg skin lesions with purplish colour before plasmapheresis. (C) Leg skin lesions with purplish colour before plasmapheresis.", "modalities": ["clinical"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/26120461/fig/2.jpg"], "caption": "(A–C) Skin biopsy.", "detailed_caption": "(A) Skin biopsy showed fibrin thrombi in the small blood vessels, with discrete inflammatory infiltrate of lymphocytes and plasma cells. (B) Skin biopsy showed fibrin thrombi in the small blood vessels, with discrete inflammatory infiltrate of lymphocytes and plasma cells. (C) Skin biopsy showed fibrin thrombi in the small blood vessels, with discrete inflammatory infiltrate of lymphocytes and plasma cells.", "modalities": ["pathology"]}], "diagnosis": "Atypical haemolytic uraemic syndrome (aHUS)", "standardized_diagnosis": [{"original_term": "Atypical haemolytic uraemic syndrome", "corrected_term": null, "code": "3A10.Y", "title": "Atypical haemolytic uraemic syndrome", "chapter": "Diseases of the blood or blood-forming organs", "primary": true}]}, "year": 2013, "classification": "Endocrine and metabolic disorders"}
+{"pmid": "25470698", "patient_info": {"basic_info": "A 47-year-old homeless man presented with intermittent pain and pins-and-needles sensation in his legs that had developed over one month, beginning as paresthesias in his toes and gradually spreading to his shins. He had a 33-year history of intravenous heroin use and was a current user, with hepatitis C virus infection and hypertension. He had a 52 pack-year smoking history and reported rare alcohol intake. He was not sexually active and had no family history of neuropathy. Physical examination revealed a chronically ill-appearing man who was alert and oriented, afebrile, with blood pressure of 170/110 mmHg, pulse 68 beats per minute, and respiratory rate 20 breaths per minute. Cardiac, pulmonary, abdominal, and skin examinations were normal. Neurologic examination showed no cranial nerve abnormalities, normal muscle strength (5/5 bilaterally), normal deep-tendon reflexes, but he had an unsteady gait with limited ambulation due to pain and decreased sensation to pinprick, light touch, and temperature in the lower extremities bilaterally.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/25470698/fig/1.jpg"], "caption": "Clinical photograph of the upper chest and dorsal arms taken during the chronic phase of illness.", "detailed_caption": "Figure 1 on page 4 is a clinical photograph showing symmetric, photodistributed erythema with overlying hyperkeratosis affecting the patient's upper chest and dorsal aspects of the arms, as described in the figure caption and referenced in the body text. The image demonstrates dermatological findings in sun-exposed areas, consistent with a nutritional deficiency dermatosis, and corresponds to the skin manifestations observed in this patient; no special staining, imaging, or magnification is used, and the timing is during the chronic phase of the patient's illness after the persistence of a photodistributed rash.", "modalities": ["clinical"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/25470698/fig/2.jpg"], "caption": "Clinical photograph of the anterior neck.", "detailed_caption": "Demonstrates a well-demarcated erythematous eruption in the distribution of a necklace on the front of the neck, representing Casal's necklace, a hallmark clinical sign of pellagra", "modalities": ["clinical"]}], "diagnosis": "Pellagra (niacin deficiency)", "standardized_diagnosis": [{"original_term": "Pellagra", "corrected_term": null, "code": "5B5C.0", "title": "Pellagra", "chapter": "Diseases of the skin", "primary": false}, {"original_term": "Niacin deficiency", "corrected_term": null, "code": "5B5C.Z", "title": "niacin deficiency NOS", "chapter": "Diseases of the skin", "primary": true}]}, "year": 2014, "classification": "Endocrine and metabolic disorders"}
+{"pmid": "26104782", "patient_info": {"basic_info": "A previously healthy 9-year-old boy presented to the emergency department with a 6-hour history of left chest pain and increasing respiratory distress. His vital signs showed a respiratory rate of 40/min and heart rate of 105/min. Physical examination revealed unremarkable cardiac auscultation, while auscultation of lung fields showed diminished breath sounds over the left side.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/26104782/fig/1.jpg"], "caption": "(A) Chest radiograph, anteroposterior view. (B) Chest radiograph, lateral view.", "detailed_caption": "Anteroposterior (a) and lateral (b) chest radiographs with large air-fluid level in left hemithorax. Note superior rim formed by stomach wall and compressed lung (arrows) and mediastinal shift to the right", "modalities": ["x-ray"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/26104782/fig/2.jpg"], "caption": "Chest x-ray performed after gastric decompression.", "detailed_caption": "Chest x-ray after gastric decompression showing normalization of the mediastinal shift and the gastric tube curving back into the left hemithorax, confirming the intrathoracic position of the stomach.", "modalities": ["x-ray"]}], "diagnosis": "Tension gastrothorax due to late onset congenital diaphragmatic hernia (CDH) with a 5×5 cm posterolateral defect in the left diaphragm", "standardized_diagnosis": [{"original_term": "Tension gastrothorax", "corrected_term": null, "code": "BA00.Z", "title": "high arterial tension", "chapter": "Diseases of the circulatory system", "primary": true}, {"original_term": "Congenital diaphragmatic hernia", "corrected_term": null, "code": "LB00.0", "title": "Congenital diaphragmatic hernia", "chapter": "Developmental anomalies", "primary": false}]}, "year": 2015, "classification": "Genetic and congenital disorders"}
+{"pmid": "26644523", "patient_info": {"basic_info": "45-year-old woman presented with syncope and severe anemia (hemoglobin 6 g/dL) with lower GI bleeding. A diagnostic colonoscopy was negative. CT scan of abdomen and pelvis revealed a 3.2 x 3 x 2.9 cm contrast-enhancing right lower-quadrant mass arising from the wall of the ileum. No evidence of metastatic disease. Subsequent laparotomy found a 3.5 cm mass that was resected with negative margins. Molecular studies showed a 42-base pair deletion in exon 11 of the KIT gene (V559_D572del) that would delete all or part of codons 558 to 572 and would change the 558-encoding amino acid from Lys to Asn (K558N).", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/26644523/fig/1.jpg"], "caption": "(A) Small intestine photomicrograph, H&E staining. (B) Small intestine photomicrograph, CD117 staining. (C) Small intestine photomicrograph, DOG-1 staining. (D) Small intestine photomicrograph.", "detailed_caption": "Photomicrographs of a small-intestinal GI stromal tumor (courtesy of A. Lazar, MD). (A) Hematoxylin and eosin staining show the mixed spindle and epithelioid appearance. (B) Positive staining for CD117. (C) Positive staining for DOG-1. (D) A cropped-out area showing a mitotic figure.", "modalities": ["pathology"]}], "diagnosis": "GI stromal tumor (GIST) with mixed spindle and epithelioid features", "standardized_diagnosis": [{"original_term": "Gastrointestinal stromal tumor", "corrected_term": null, "code": "2B5B.Z", "title": "Gastrointestinal stromal tumour of unspecified gastrointestinal sites", "chapter": "Neoplasms", "primary": true}]}, "year": 2016, "classification": "Neoplastic diseases"}
+{"pmid": "26487970", "patient_info": {"basic_info": "A 49-year-old Asian man presented with oppressive chest pain associated with hypertensive crisis (BP 200/100 mmHg). His medical history included hypertension, smoking, and surgical mitral and aortic valve substitution with mechanical prosthesis 16 years prior, followed by re-substitution due to secondary thrombosis. He had paroxysmal atrial fibrillation previously controlled with amiodarone, which was stopped 2 weeks before admission due to thyrotoxicosis. On admission, he was oriented and alert with BP 200/100 mmHg, heart rate of 100 bpm, and normal physical examination. Laboratory tests showed elevated myocardial necrosis enzymes (troponine T-hs 133 ng/L, creatine kinase-MB 13.0 ng/L) and thyroid hormones (TSH 0.007 µIU/mL, fT3 8.3 pg/mL, fT4 44.2 pg/mL). Additional tests revealed elevated 24-h urinary epinephrine (547 μg/24h), urinary metanephrine (8,720 μg/24h), and serum calcitonin (312 pg/mL), with normal parathormon (34 pg/mL).", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/26487970/fig/1.jpg"], "caption": "CT of the right adrenal region, lesion size 35 mm, density >2 HU.", "detailed_caption": "CT showed a 35 mm right adrenal lesion with smooth margins and density higher than 2 HU", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/26487970/fig/2.jpg"], "caption": "The thyroid sample. (A) Original histological slide, H&E staining. (B) H&E staining, 100× magnification. (C) Calcitonin staining, 200× magnification.", "detailed_caption": "Medullary thyroid carcinoma: histological findings. (A) Scan of original histological slide (H&E staining, pale central area corresponded to dense fibrous tissue infiltrated by tumor). (B) Two tumor nodules in dense fibrous tissue at the top of figure (H&E staining, 100×). (C) Tumor cells are positive for Calcitonin (Calcitonin staining, 200×).", "modalities": ["pathology"]}], "diagnosis": "Multiple endocrine neoplasia type 2A (MEN2A) syndrome with right adrenal pheochromocytoma and medullary thyroid carcinoma, confirmed by RET gene mutation p.C634R in exon 11", "standardized_diagnosis": [{"original_term": "Multiple endocrine neoplasia type 2A", "corrected_term": null, "code": "2F7A.0", "title": "Multiple endocrine neoplasia type 2A", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": true}, {"original_term": "Right adrenal pheochromocytoma", "corrected_term": null, "code": "2D11.1&XK9K", "title": "Malignant phaeochromocytoma of adrenal gland[Right]", "chapter": "Neoplasms", "primary": false}, {"original_term": "Medullary thyroid carcinoma", "corrected_term": null, "code": "2D10.4", "title": "Medullary carcinoma of thyroid gland", "chapter": "Neoplasms", "primary": false}]}, "year": 2015, "classification": "Endocrine and metabolic disorders"}
+{"pmid": "26668343", "patient_info": {"basic_info": "32-year-old man with history of mixed germ cell tumor of testis. Previous findings included: 5-cm testicular tumor that was 95% yolk sac tumor and 5% embryonal carcinoma. Presented with acute-onset right-sided weakness and numbness. Had 2-week history of intermittent headaches. Serum alpha-fetoprotein (AFP) level was elevated at 47 ng/mL.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/26668343/fig/1.jpg"], "caption": "Histopathological section of resected brain tissue (left parietal lobe), H&E staining.", "detailed_caption": "Figure 1 presents a histopathological section of resected brain tissue stained with hematoxylin and eosin (H&E), examining predominantly a yolk sac element of a metastatic germ cell tumor; the tissue was acquired following emergency surgical decompression and tumor resection from the patient's left parietal lobe due to acute neurological symptoms, and the image demonstrates characteristic histological features under light microscopy, although specific magnification is not stated.", "modalities": ["pathology"]}], "diagnosis": "Metastatic germ cell tumor (predominantly yolk sac tumor) with brain metastasis", "standardized_diagnosis": [{"original_term": "Germ cell tumor", "corrected_term": null, "code": "2C80.2", "title": "Germ cell tumour of testis", "chapter": "Neoplasms", "primary": false}, {"original_term": "Yolk sac tumor", "corrected_term": null, "code": "2C73.Y&XH09W7", "title": "Yolk sac tumour, unspecified site, female", "chapter": "Neoplasms", "primary": true}, {"original_term": "Brain metastasis", "corrected_term": null, "code": "2D50", "title": "brain metastases", "chapter": "Neoplasms", "primary": false}]}, "year": 2016, "classification": "Neoplastic diseases"}
+{"pmid": "26812964", "patient_info": {"basic_info": "An 85-year-old man presented to the emergency department with a 5-day history of headache, vomiting, and progressive visual loss in both eyes. He denied weight loss, seizures, or limb or facial weakness. His medical history included hypertension, abdominal aortic aneurysm under surveillance, hypothyroidism, and benign prostatic hypertrophy. On examination, his blood pressure was 110/75 mmHg, pulse 80 beats per minute and regular, with a Glasgow Coma Score of 15. Peripheral neurological examination was normal, but cranial nerve examination revealed bitemporal hemianopia with normal fundoscopy.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/26812964/fig/1.jpg"], "caption": "Coronal T2-weighted MRI of the head, non-contrast.", "detailed_caption": "Coronal T2 weighted magnetic resonance imaging of the head without contrast shows a sellar mass compressing the optic chiasm and signal changes suggestive of haemorrhagic regions within the mass", "modalities": ["mri"]}], "diagnosis": "Pituitary tumour apoplexy", "standardized_diagnosis": [{"original_term": "Pituitary tumour apoplexy", "corrected_term": null, "code": "5A61.0", "title": "Pituitary apoplexy", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": true}]}, "year": 2016, "classification": "Neoplastic diseases"}
+{"pmid": "26069838", "patient_info": {"basic_info": "A 47-year-old woman with a known medulloblastoma diagnosed 2 years previously presented for a scheduled oncology check-up. Her existing medications included temsirolimus for her tumor and valproate for seizures she had experienced over the past year. She reported not feeling well for the previous few days with symptoms including drowsiness, lethargy and headaches. Clinical assessment revealed a fever but otherwise no apparent issues with no signs of edema, normal jugular venous pressure, and normal heart and lung auscultation. Her physician determined that her hyponatremia was most likely being caused by SIADH.", "supplementary_info": [{"type": "tab", "id": 3, "subfig": null, "path": ["images/26069838/tab/1.jpg"], "caption": "Physical examination findings and laboratory results.", "detailed_caption": "Physical examination showed weight 58 kg, blood pressure 115/75 mmHg, heart rate 93 bpm, SpO₂ 98%, temperature 38.4°C. Laboratory data revealed serum sodium 123 mmol/L, serum osmolality 253 mOsm/kg, serum potassium 3.2 mmol/L, creatinine 44.2 μmol/L, urea 24 mg/dL, uric acid 125 μmol/L, urinary osmolality 599 mOsm/kg, urinary sodium 99 mmol/L, urinary potassium 39 mmol/L.", "modalities": ["clinical", "lab"]}], "diagnosis": "Hyponatremia secondary to SIADH caused by underlying pneumonia", "standardized_diagnosis": [{"original_term": "Hyponatremia", "corrected_term": null, "code": "5C72", "title": "hyponatraemia", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": true}, {"original_term": "Syndrome of inappropriate antidiuretic hormone secretion", "corrected_term": null, "code": "5A60.2Z", "title": "Syndrome of inappropriate secretion of antidiuretic hormone", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": false}, {"original_term": "Pneumonia", "corrected_term": null, "code": "CA40.Z", "title": "Pneumonia", "chapter": "Diseases of the respiratory system", "primary": false}]}, "year": 2013, "classification": "Infectious and immunologic disorders"}
+{"pmid": "26700121", "patient_info": {"basic_info": "A 23-year-old man was urgently referred for evaluation of rapidly enlarging cervical lymphadenopathy, progressive dyspnea, fatigue, night sweats, and an unintentional weight loss of 25 pounds. His physical examination was remarkable for bulky cervical and supraclavicular lymphadenopathy, with a normal testicular examination. A computed tomography scan of the neck performed 30 days before referral revealed bilateral cervical and supraclavicular lymphadenopathy (6×5 cm). A fine-needle aspirate of nasopharyngeal tissue demonstrated fibroadipose tissue. A core needle biopsy of a left internal jugular lymph node demonstrated a reactive lymph node but no malignancy. His lactate dehydrogenase concentration was 327 U/L (normal range, 118-225 U/L). A marrow aspirate and biopsy revealed normal trilineage hematopoiesis with no evidence of lymphoma and a normal male karyotype (46, XY). A lumbar puncture sample did not contain lymphoma cells.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/26700121/fig/1.jpg"], "caption": "(A) Cytospin preparation micrograph of mediastinal mass, 100× magnification. (B) Biopsy specimen micrograph of mediastinal mass, H&E staining, 40× magnification.", "detailed_caption": "Cytospin and hematoxylin-and-eosin-stained slides from a mediastinal mass specimen containing T-lymphoblastic lymphoma. (A) Micrograph of a cytospin preparation (magnification, ×100). There are numerous lymphoblasts with a high nuclear-to-cytoplasmic ratio, irregular nuclear contours, finely dispersed chromatin, small indistinct nucleoli, and no granules. (B) Micrograph of a biopsy specimen stained with hematoxylin and eosin (magnification, ×40). Infiltrating lymphoblasts (small, round, blue cells) show marked nuclear irregularities, fine nuclear chromatin, and scant cytoplasm.", "modalities": ["pathology"]}], "diagnosis": "T-lymphoblastic lymphoma", "standardized_diagnosis": [{"original_term": "T-lymphoblastic lymphoma", "corrected_term": null, "code": "2A70.Y", "title": "B lymphoblastic leukaemia or lymphoma with t(v;11q23); MLL rearranged", "chapter": "Neoplasms", "primary": true}]}, "year": 2016, "classification": "Neoplastic diseases"}
+{"pmid": "26831471", "patient_info": {"basic_info": "A 56-year-old woman presented with a 1-week history of shortness of breath and sore throat. Her medical history included smoking, obesity, type 2 diabetes On examination, her oxygen saturation was 81% on room air, dropping to 71% with exertion. She was afebrile with a normal white blood cell count. Chest examination revealed soft heart sounds, decreased air entry, wheeze, and aegophony at the lung bases bilaterally. Abdominal examination was normal except for obesity.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/26831471/fig/1.jpg"], "caption": "Chest radiograph.", "detailed_caption": "Chest radiograph showed a large mass-like density in the right cardiophrenic angle and hyperinflation", "modalities": ["x-ray"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/26831471/fig/2.jpg"], "caption": "CT scan of the thorax and diaphragm with contrast, defect measuring 22.6 cm.", "detailed_caption": "Contrast-enhanced CT scan revealed a large incarcerated Morgagni hernia, characterized by a defect in the right anterior diaphragm with herniation of omentum into the thorax, measuring 22.6 cm at its widest point", "modalities": ["ct"]}], "diagnosis": "Morgagni hernia (large incarcerated)", "standardized_diagnosis": [{"original_term": "Morgagni hernia", "corrected_term": null, "code": "DD5Z", "title": "Hernias, unspecified", "chapter": "Diseases of the digestive system", "primary": true}, {"original_term": "Incarcerated hernia", "corrected_term": null, "code": "DD50.0/ME24.2", "title": "incarcerated sliding hiatus hernia", "chapter": "Diseases of the digestive system", "primary": false}]}, "year": 2016, "classification": "Gastrointestinal disorders"}
+{"pmid": "26907672", "patient_info": {"basic_info": "59-year-old man with multiple nodules on his joints. Patient had history of gouty arthritis (confirmed by visualization of negative birefringent crystals in joint aspirate), hypertension, and type 2 diabetes mellitus. Physical examination showed multiple gouty nodules in the auricle, knee, ankle, and toe joints, with severe loss of flexion and extension in hands. Laboratory findings showed elevated creatine (137 μmol/L; normal range 62–115 μmol/L) and uric acid (725 μmol/L; normal range 208–428 μmol/L).", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/26907672/fig/1.jpg"], "caption": "Clinical photographs of the hands taken at presentation.", "detailed_caption": "Figure 1 shows clinical photographs of the hands of a 59-year-old man, depicting giant gouty tophi most prominently in the joints of the hands, as documented during physical examination on presentation.", "modalities": ["clinical"]}], "diagnosis": "Advanced erosive tophaceous gout", "standardized_diagnosis": [{"original_term": "Gout", "corrected_term": null, "code": "FA25", "title": "Gout", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": false}, {"original_term": "Tophaceous gout", "corrected_term": null, "code": "FA25.20", "title": "Tophaceous gout", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": true}, {"original_term": "Erosive gout", "corrected_term": null, "code": "FA25", "title": "Gout", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": false}]}, "year": 2017, "classification": "Orthopedic and connective tissue disorders"}
+{"pmid": "26248854", "patient_info": {"basic_info": "A-year-old female presented to the emergency department with pain in the left upper abdominal quadrant. She brought an abdominal CT scan from another hospital showing a 10 × 6.3 × 8.6 cm-sized left adrenal mass with hemorrhagic necrosis. On admission, her blood pressure was elevated (systolic 150-170 mmHg, diastolic 100-110 mmHg) with no previous history of hypertension. Her weight was 63 kg and height was 175 cm. During history taking after surgery, she revealed she had undergone breast augmentation surgery because she never developed breasts during puberty, had no menarche, and lacked secondary sexual characteristics such as pubic and axillary hair (Tanner stage I). Routine biochemical studies, urine analysis, and coagulation tests were normal. Serum electrolytes showed Na 141 mmol/L, K 3.3 mmol/L, and Cl 100 mmol/L. Chest X-ray and electrocardiography were normal. Chromosomal study showed normal karyotype 46,XX. Genetic analysis revealed compound heterozygous mutations p.Tyr329fs and p.His373Leu in exon 6 of the CYP17A1 gene.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/26248854/fig/1.jpg"], "caption": "(A) CT scan of the left adrenal gland. (B) 18F-FDG PET-CT of the left adrenal gland, FDG uptake.", "detailed_caption": "(A) Computed tomography (CT) scan of the large, 7.6-cm, hemorrhagic mass in the left adrenal gland (white arrows). (B) Fluoro-deoxyglucose (FDG) uptake (black arrow) in the solid portion of the mass in 18F-FDG-positron emission tomography-CT.", "modalities": ["ct", "pet/spect/nuclear"]}, {"type": "tab", "id": 1, "subfig": null, "path": ["images/26248854/tab/2.jpg"], "caption": "Pre-surgical laboratory hormone levels. Post-surgical laboratory hormone evaluation. 24-hour urine analysis. Low-dose ACTH stimulation test.", "detailed_caption": "Pre-surgical hormone levels showed cortisol 0.9 μg/dL (NR 6.7-22.6), ACTH 75.94 pg/mL (NR 7.2-63.6), aldosterone 183.31 pg/mL (NR 29.9-158.8), renin 0.80 ng/mL/hr (NR 1.31-3.95), with aldosterone-renin ratio of 22.9. Additional post-surgical hormonal evaluation revealed thyroid stimulating hormone 3.1 μIU/mL, prolactin 27.2 ng/mL, luteinizing hormone 25.0 mIU/mL, follicular stimulating hormone 51.5 mIU/mL, estradiol <20 pg/mL, progesterone 4.32 ng/mL, 17-OH-progesterone 0.21 ng/mL, DHEA 0.41 μg/mL, and testosterone <2.5 ng/dL. 24-hour urine analysis showed metanephrine 0.518 mg/day, epinephrine 2.3 μg/day, vanillylmandelic acid 4.04 mg/day (all within normal range), but reduced 17-ketosteroids 2.77 mg/day (NR 7-20) and urinary free cortisol 37.6 (NR 55.5-286). Low-dose ACTH stimulation test showed blunted response with cortisol levels at baseline 1.0 μg/dL, 1.6 μg/dL at 30 minutes, and 1.0 μg/dL at 1 hour", "modalities": ["lab"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/26248854/fig/3.jpg"], "caption": "Gross pathological examination of the adrenal gland.", "detailed_caption": "Gross pathological examination revealed adrenal cortical adenoma measuring 10 × 5 × 3 cm with degenerative cystic changes", "modalities": ["pathology"]}], "diagnosis": "Congenital adrenal hyperplasia with 17α-hydroxylase/17,20-lyase deficiency caused by compound heterozygous mutation of CYP17A1 gene, presenting as massive adrenocortical adenoma", "standardized_diagnosis": [{"original_term": "Congenital adrenal hyperplasia due to 17α-hydroxylase/17,20-lyase deficiency", "corrected_term": null, "code": "5A71.01", "title": "Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency", "chapter": "Developmental anomalies", "primary": true}, {"original_term": "Adrenocortical adenoma", "corrected_term": null, "code": "2F37.Y", "title": "Adrenocortical adenoma", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": false}]}, "year": 2015, "classification": "Endocrine and metabolic disorders"}
+{"pmid": "26700118", "patient_info": {"basic_info": "78-year-old woman with hepatitis C virus (HCV) history presented with abnormal liver function tests on routine examination. She had no alcohol use history. Clinical findings: Eastern Cooperative Oncology Group performance status of 1, no stigmata of chronic liver disease, no ascites or encephalopathy or other associated clinical symptoms. Laboratory findings: Child-Pugh score A6 (due to low albumin of 34 g/L), platelets slightly depressed at 121,000 mL, alpha-fetoprotein level 89 mg/L.", "supplementary_info": [{"type": "fig", "id": 2, "subfig": null, "path": ["images/26700118/fig/1.jpg"], "caption": "Computed tomography for radiation planning, with prescription dose 45 Gy in five fractions and 50% dose 22.5 Gy in five fractions.", "detailed_caption": "Radiation planning computed tomography images showing target volume to be treated (gross tumor volume in red and planning target volume in blue). Prescription dose (45 Gy in five fractions) shown in green, and 50% dose (22.5 Gy in five fractions) shown in orange.", "modalities": ["ct"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/26700118/fig/2.jpg"], "caption": "(A) CT of the liver, axial view, arterial phase, baseline. (B) CT of the liver, axial view, portal venous phase, baseline. (C) CT of the liver, coronal view, arterial phase, baseline. (D) CT of the liver, axial view, arterial phase, 9 months post radiotherapy. (E) CT of the liver, axial view, portal venous phase, 9 months post radiotherapy. (F) CT of the liver, coronal view, arterial phase, 9 months post radiotherapy.", "detailed_caption": "Axial arterial and portal venous phase and coronal arterial phase computed tomography (CT) images of hepatocellular carcinoma at baseline and 9 months post stereotactic body radiotherapy (RT), showing continued shrinkage and reduction in arterial enhancement.", "modalities": ["ct"]}], "diagnosis": "Hepatocellular carcinoma (HCC) - 4.1 cm lesion in liver segment 7/8 with underlying cirrhosis due to HCV", "standardized_diagnosis": [{"original_term": "Hepatocellular carcinoma", "corrected_term": null, "code": "2C12.02", "title": "hepatocellular carcinoma, NOS", "chapter": "Diseases of the digestive system", "primary": true}, {"original_term": "Liver cirrhosis", "corrected_term": null, "code": "DB93.1", "title": "Hepatic cirrhosis", "chapter": "Diseases of the digestive system", "primary": false}, {"original_term": "Hepatitis C virus infection", "corrected_term": null, "code": "KA62.9", "title": "Congenital Hepatitis C virus infection", "chapter": "Certain conditions originating in the perinatal period", "primary": false}]}, "year": 2016, "classification": "Neoplastic diseases"}
+{"pmid": "26760088", "patient_info": {"basic_info": "An 18-year-old male presented with fever and pain in the lower abdomen, groin, and scrotum. Four days before admission, he developed fatigue, subjective fever, and chills, followed by headaches, non-bilious nonbloody emesis, diarrhea, decreased appetite, low back pain, and dysuria. His medical history included exercise-induced asthma and childhood hospitalization for diarrhea. He was born in Central America and moved to the US at age 15. Recent testing showed negative interferon-gamma release assay for tuberculosis, and negative tests for HIV, syphilis, gonorrhea, and chlamydia. On examination, he appeared tired with temperature 39.4°C, blood pressure 125/67 mmHg, pulse 121/min, respiratory rate 36/min, and oxygen saturation 100%. The paraspinal muscles of the low back were tender.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/26760088/fig/1.jpg"], "caption": "CT scan of the abdomen and pelvis, axial view.", "detailed_caption": "CT scan showed ill-defined low-density material tracking along left retroperitoneum anterior to left psoas muscle and aorta into pelvis, displacing bladder to right. Low-density material also seen in left paracolic gutter.", "modalities": ["ct"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/26760088/fig/2.jpg"], "caption": "MRI of the paraaortic, left common iliac, and left external iliac lymph nodes.", "detailed_caption": "MRI revealed several prominent paraaortic, left common iliac, and left external iliac lymph nodes, some with central necrosis.", "modalities": ["mri"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/26760088/fig/3.jpg"], "caption": "(A) Bone marrow core biopsy, H&E staining. (B) Bone marrow core biopsy, H&E staining, higher magnification. (C) Bone marrow core biopsy, immunostaining for CD163. (D) Bone marrow aspirate smear, Wright–Giemsa staining. (E) Bone marrow aspirate smear, Wright–Giemsa staining.", "detailed_caption": "Bone Marrow–Biopsy Specimen. Hematoxylin and eosin staining of a core - biopsy specimen of the bone marrow shows appropriate cellularity for the patient’s age and maturing trilineage hematopoiesis; no lymphoid aggregates are present (Panel A). At higher magnification, hematoxylin and eosin staining shows a hemophagocytic macrophage with foamy cytoplasm containing red - cell debris and intact hematopoietic elements (Panel B, circle). Immunostaining for CD163 shows numerous hemophagocytic macrophages (Panel C, circle). Wright–Giemsa staining of a smear of bone marrow aspirate shows hemophagocytic macrophages, including one with numerous platelets and red cells (Panel D, arrow) and one containing a red cell and two granulocytic forms (Panel E, arrow).", "modalities": ["pathology"]}, {"type": "tab", "id": 1, "subfig": null, "path": ["images/26760088/tab/4.jpg"], "caption": "Laboratory results.", "detailed_caption": "Laboratory data showed decreasing platelet count (126,000 to 75,000), elevated C-reactive protein (120.9-178.5 mg/L), markedly elevated ferritin (8343-7008 ng/ml), elevated triglycerides (341-282 mg/dl), and other abnormalities in blood counts and chemistry.", "modalities": ["lab"]}], "diagnosis": "Hemophagocytic lymphohistiocytosis of an unknown cause", "standardized_diagnosis": [{"original_term": "Hemophagocytic lymphohistiocytosis", "corrected_term": null, "code": "4A01.23", "title": "haemophagocytic lymphohistiocytosis NOS", "chapter": "Diseases of the immune system", "primary": true}]}, "year": 2016, "classification": "Infectious and immunologic disorders"}
+{"pmid": "26357507", "patient_info": {"basic_info": "38-year-old woman, asymptomatic, discovered during routine health checkup due to abnormal chest radiograph. No history of smoking. All laboratory findings were within normal limits.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/26357507/fig/1.jpg"], "caption": "CT of the right lower lobe.", "detailed_caption": "CT showed 1.2 cm-sized nodule in right lower lobe with spiculated margin and needle-like projections in periphery of nodule", "modalities": ["ct"]}, {"type": "fig", "id": 1, "subfig": "B-F", "path": ["images/26357507/fig/2.jpg"], "caption": "Dynamic contrast-enhanced CT, peak enhancement 245 HU, with subsequent decrease to 168 HU at 180 seconds.", "detailed_caption": "Dynamic contrast-enhanced CT showed early strong enhancement with peak enhancement of 245 HU and gradual loss of enhancement (washout) to 168 HU through 180 seconds", "modalities": ["ct"]}, {"type": "fig", "id": 1, "subfig": "G", "path": ["images/26357507/fig/3.jpg"], "caption": "18F-FDG PET/CT, SUVmax=2.0.", "detailed_caption": "18F-FDG PET/CT showed nodule with mildly increased radiopharmaceutical uptake with maximum standardized uptake value (SUVmax) of 2.0", "modalities": ["pet/spect/nuclear", "ct"]}, {"type": "fig", "id": 1, "subfig": "H-M", "path": ["images/26357507/fig/4.jpg"], "caption": "(H) Gross photograph. (I) Photomicrograph, 200× magnification. (J) Photomicrograph, 100× magnification. (K) Immunohistochemistry staining, SMA, 200× magnification. (L) Immunohistochemistry staining, CD31, 200× magnification. (M) Immunohistochemistry staining, Ki-67, 200× magnification.", "detailed_caption": "H. Gross photograph indicates soft and dark-reddish nodule with hemorrhage (arrows). I. Photomicrograph reveals highly vascular tumor with prominent freely anastomosing vascular channels, papillary growth, and endothelial tufting that was absent to minimal (x 200).J. Tumor’s peripheral vasoformative features (arrows) indicate anastomosing vascular channels lined by malignant endothelium (x 100). These marginal characteristics correspond to needle-like projections in periphery of nodule seen in CT image A. K-M. Immunohistochemistry staining shows tumor cells are diffusely positive for SMA (K), and CD31 (L), and weakly positive for Ki-67 (M) (x 200). SMA = smooth muscle actin", "modalities": ["pathology"]}], "diagnosis": "Primary pulmonary low-grade angiosarcoma", "standardized_diagnosis": [{"original_term": "Primary pulmonary low-grade angiosarcoma", "corrected_term": null, "code": "2B56.Z", "title": "Angiosarcoma, primary site", "chapter": "Neoplasms", "primary": true}]}, "year": 2015, "classification": "Neoplastic diseases"}
+{"pmid": "26958738", "patient_info": {"basic_info": "An 81-year-old man presented to the ICU 10 days after a 4-week cruise in New Caledonia, Vanuatu, the Solomon Islands, and New Zealand. He was reported to have been in perfect health during the cruise. On examination, he was febrile (39.1°C) and comatose with a Glasgow Coma Scale score of 6. He exhibited hemiplegia of the left side, paresis of the right upper limb, normal tendon reflexes, and a Babinski sign on the left side. A transient rash was observed within 48 hours of admission. Cerebrospinal fluid analysis showed leukocyte count of 41/mm³ (98% polymorphonuclear leukocytes), protein level of 76 mg/dL, and CSF:blood glucose ratio of 0.75.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/26958738/fig/1.jpg"], "caption": "(A, B) MRI, fluid-attenuated inversion recovery (FLAIR) imaging, 3T MRI unit, subcortical white-matter of right frontal, right parietal, right temporo-occipital, and bilateral rolandic regions. (C) MRI, diffusion-weighted imaging (DWI), 3T MRI unit. (D) Computed tomographic angiogram, right callosomarginal artery, Discovery CT750 HD scanning system.", "detailed_caption": "MRI with the use of fluid-attenuated inversion recovery (FLAIR) imaging revealed subcortical white-matter hyperintensities in the right frontal region, the right parietal region (Panel A), the right temporo-occipital region (Panel B), and bilateral rolandic regions (Panel A). The slight hyperintensity of the right rolandic fissure (Panel A, arrow) is suggestive of meningitis. The multiple punctuated hyperintensities on diffusion-weighted sequences are suggestive of ischemic foci (Panel C). The MRI with FLAIR imaging and diffusion-weighted sequences were performed with the use of a 3T MRI unit (Magnetom Verio, Siemens). The computed tomographic angiogram shows an irregular narrowing of the right callosomarginal artery (Panel D, arrows). Angiography was performed with the use of a Discovery CT750 HD scanning system (GE Medical Systems).", "modalities": ["mri", "angiography", "ct"]}], "diagnosis": "ZIKV-associated meningoencephalitis", "standardized_diagnosis": [{"original_term": "ZIKV infection", "corrected_term": null, "code": "1H0Z", "title": "infection NOS", "chapter": "Certain infectious or parasitic diseases", "primary": false}, {"original_term": "Meningoencephalitis", "corrected_term": null, "code": "1D01.Z", "title": "meningoencephalitis NOS", "chapter": "Diseases of the nervous system", "primary": true}]}, "year": 2016, "classification": "Infectious and immunologic disorders"}
+{"pmid": "26584736", "patient_info": {"basic_info": "A 14-year-old girl with no prior medical history presented to the emergency department with severe abdominal pain for 2 days, accompanied by non-bilious vomiting. Physical examination revealed pallor, diffuse abdominal tenderness with guarding, and sluggish bowel sounds but no rigidity. Her recent history included two episodes of multiple oral ulcers that had resolved spontaneously. Laboratory findings showed hemoglobin 88 g/L, total leucocyte count 3.6 × 10⁹/L, platelets 96 × 10⁹/L, and ESR 54 mm/h. Urinalysis was normal, and blood and urine cultures were sterile. Initial ANA testing by indirect immunofluorescence with HEp-2 cell substrate was negative. Subsequent repeat ANA testing at a different laboratory remained negative, but dsDNA and anti-Ro antibodies were strongly positive with low concentrations of C3 and C4. Echocardiography showed a mild pericardial effusion.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/26584736/fig/1.jpg"], "caption": "Abdominal radiograph.", "detailed_caption": "Abdominal radiograph showed dilated small and large bowel loops with no signs of intestinal obstruction or pneumoperitoneum", "modalities": ["x-ray"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/26584736/fig/2.jpg"], "caption": "Contrast-enhanced CT.", "detailed_caption": "Contrast-enhanced CT showed oedematous and enhancing bowel loops with target sign and bilateral hydroureteronephrosis", "modalities": ["ct"]}], "diagnosis": "ANA-negative systemic lupus erythematosus with lupus enteritis and lupus cystitis", "standardized_diagnosis": [{"original_term": "Systemic lupus erythematosus", "corrected_term": null, "code": "4A40.0Z", "title": "Systemic lupus erythematosus", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": true}, {"original_term": "Lupus enteritis", "corrected_term": null, "code": "1A40.Z", "title": "enteritis NOS", "chapter": "Certain infectious or parasitic diseases", "primary": false}, {"original_term": "Lupus cystitis", "corrected_term": null, "code": "GC00.Z", "title": "Cystitis", "chapter": "Diseases of the genitourinary system", "primary": false}]}, "year": 2016, "classification": "Infectious and immunologic disorders"}
+{"pmid": "25995698", "patient_info": {"basic_info": "A previously healthy 10-year-old boy presented with left upper quadrant abdominal pain that worsened with deep breathing or lying down, accompanied by fever. He also complained of mild cough and whitish sputum. On physical examination, the child was irritable but there were no other remarkable findings. Laboratory data showed elevated C-reactive protein (8.65 mg/dL) without leukocytosis and other findings were unremarkable.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/25995698/fig/1.jpg"], "caption": "Left posterior sagittal chest ultrasonography with 3.5 MHz convex transducer.", "detailed_caption": "Left posterior sagittal chest ultrasonography using convex, low-frequency (3.5 MHz) transducer shows lentiform heterogeneous solid mass with linear structures in left lower hemithorax. Adjacent consolidated lung and large amount of left pleural effusion containing low-level echoes were also identified.", "modalities": ["ultrasound"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/25995698/fig/2.jpg"], "caption": "Color Doppler ultrasonography of the left lower hemithorax, convex low-frequency (3.5 MHz) transducer.", "detailed_caption": "B: Color Doppler ultrasonography of the left lower hemithorax, using a convex low-frequency (3.5 MHz) transducer, demonstrates minimal vascularity within the lentiform, heterogeneously echogenic solid mass that is sharply demarcated from the adjacent atelectatic lung and partly abutting the descending aorta, in a 10-year-old boy presenting with extralobar pulmonary sequestration with hemorrhagic infarction.", "modalities": ["ultrasound"]}, {"type": "fig", "id": 1, "subfig": "C", "path": ["images/25995698/fig/3.jpg"], "caption": "Axial T2-weighted MRI.", "detailed_caption": "Axial T2-weighted image shows well-defined triangular solid mass lesion with left pleural effusion. Central branching cystic structure within mass corresponded to dilated bronchiole on histopathologic examination. Hemiazygos vein appears to be mildly dilated.", "modalities": ["mri"]}, {"type": "fig", "id": 1, "subfig": "D", "path": ["images/25995698/fig/4.jpg"], "caption": "Axial T1-weighted MRI of the thoracic region.", "detailed_caption": "Axial T1-weighted image reveals small artery arising from descending thoracic aorta and connecting to lesion.", "modalities": ["mri"]}, {"type": "fig", "id": 1, "subfig": "E", "path": ["images/25995698/fig/5.jpg"], "caption": "(E) MRI of the left lower hemithorax, axial view, dynamic contrast-enhanced T1-weighted sequence, performed preoperatively after intravenous contrast administration.", "detailed_caption": "E: Dynamic contrast-enhanced axial T1-weighted MRI of the left lower hemithorax performed preoperatively demonstrates irregular central enhancement with several foci of poor enhancement in the periphery of the lesion, indicating a well-defined solid mass in the left pleural space associated with pleural enhancement; the acquisition was performed after intravenous contrast administration in a 10-year-old boy with extralobar pulmonary sequestration and hemorrhagic infarction.", "modalities": ["mri"]}], "diagnosis": "Extralobar pulmonary sequestration with hemorrhagic infarction", "standardized_diagnosis": [{"original_term": "Extralobar pulmonary sequestration", "corrected_term": null, "code": "LA75.6", "title": "Extralobar sequestration of lung", "chapter": "Diseases of the respiratory system", "primary": true}, {"original_term": "Pulmonary hemorrhagic infarction", "corrected_term": null, "code": "MD23", "title": "Pulmonary haemorrhage", "chapter": "Symptoms, signs or clinical findings, not elsewhere classified", "primary": false}]}, "year": 2015, "classification": "Genetic and congenital disorders"}
+{"pmid": "26739165", "patient_info": {"basic_info": "A 64-year-old woman presented with intermittent bilateral knee pain for several years. She described her pain as mild, diffuse, both improved and worsened with walking, and occasionally associated with a sensation of instability. She had no history of trauma, mechanical symptoms such as locking, interference with daily activities, or pain in other joints. Her past medical history included osteoarthritis of the knee and osteoporosis. Several years earlier she had received a corticosteroid injection in her left knee but had never undergone imaging of her knees. Physical examination showed bilateral genu valgum with bilateral diffuse tenderness to palpation along her joint lines and patellar facets. Bilateral patellar movement caused considerable crepitus and discomfort. She had a small joint effusion in her left knee but not on the right. She had decreased flexion of the knees- 110° on the left and 100° on the right. Her gait was mildly antalgic bilaterally.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/26739165/fig/1.jpg"], "caption": "Plain radiograph of bilateral knees, anteroposterior view.", "detailed_caption": "Anterioposterior plain radiograph of bilateral knees showing multiple calcified bodies of various sizes distributed throughout the knee joint and severe bilateral tricompartmental knee osteoarthritis.", "modalities": ["x-ray"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/26739165/fig/2.jpg"], "caption": "Lateral radiograph of bilateral knees.", "detailed_caption": "Lateral radiograph of bilateral knees confirming the diagnosis of severe tricompartmental osteoarthritis and extensive synovial calcification.", "modalities": ["x-ray"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/26739165/fig/3.jpg"], "caption": "Sunrise radiograph of bilateral knees.", "detailed_caption": "Sunrise radiograph of bilateral knees confirming the diagnosis of severe tricompartmental osteoarthritis and extensive synovial calcification.", "modalities": ["x-ray"]}], "diagnosis": "Secondary synovial osteochondromatosis of bilateral knees in the setting of severe osteoarthritis", "standardized_diagnosis": [{"original_term": "Secondary synovial osteochondromatosis", "corrected_term": null, "code": "2E83.Z", "title": "Osteochondromatosis syndrome", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": false}, {"original_term": "Severe osteoarthritis", "corrected_term": null, "code": "FA0Z", "title": "osteoarthritis NOS", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": true}]}, "year": 2016, "classification": "Orthopedic and connective tissue disorders"}
+{"pmid": "25207769", "patient_info": {"basic_info": "This case involves a 39-year-old man from the Dominican Republic who had been well until approximately 1 month before admission when a pruritic rash developed below the waist, most prominently on the left upper thigh. He had an 8-year history of recurrent pruritic rashes predominantly around the waist and axillae that were associated with transient eosinophilia. On presentation to the emergency department, he had severe headache rated 10/10 that was unlike any previous pain, with photophobia, nausea, agitation, restlessness, and tearfulness. Physical examination revealed dry mucous membranes, pupils 4 mm and reactive to light, neck stiffness with pain on flexion and rotation, bilateral strength 4/5, and unsteady gait requiring assistance to stand. He had previous medical history of melasma, acne, hidradenitis suppurativa, and partial small-bowel obstruction with Meckel's diverticulum resection 4 years earlier. He was born in the Dominican Republic, immigrated to the US over 15 years earlier, and had visited the Dominican Republic 2 months before symptoms. Nine days before admission, he had received prednisone for contact dermatitis thought to be caused by nickel allergy.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/25207769/tab/1.jpg"], "caption": "Laboratory results: blood white-cell count 17,400 per mm³ (86.9% neutrophils, 8.5% lymphocytes, 2.1% eosinophils); cerebrospinal fluid analysis (tube 1): white-cell count 13,800 per mm³ (90% neutrophils, 3% band forms, 4% lymphocytes, 3% monocytes), protein 195 mg/dl, glucose 46 mg/dl; blood glucose 121 mg/dl; lactic acid 3.8 mmol/liter; phosphorus 1.4 mg/dl; magnesium 1.5 mg/dl.", "detailed_caption": "Laboratory results showed blood white-cell count 17,400 per mm³ with 86.9% neutrophils, 8.5% lymphocytes, 2.1% eosinophils. Cerebrospinal fluid analysis revealed markedly cloudy appearance, white-cell count 13,800 per mm³ (tube 1) with 90% neutrophils, 3% band forms, 4% lymphocytes, 3% monocytes, protein 195 mg/dl, glucose 46 mg/dl. Blood glucose was 121 mg/dl, lactic acid 3.8 mmol/liter, phosphorus 1.4 mg/dl, magnesium 1.5 mg/dl.", "modalities": ["lab"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/25207769/fig/2.jpg"], "caption": "Fecal smear, unstained preparation, rhabditiform larva measuring approximately 180–380 μm × 14–20 μm.", "detailed_caption": "Fecal smear showed Strong. stercoralis rhabditiform larva in unstained preparation, approximately 180 to 380 μm in length by 14 to 20 μm in width, with short pointed tail, bulbous esophagus, conspicuous genital primordium, and short buccal canal.", "modalities": ["pathology"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/25207769/fig/3.jpg"], "caption": "(A) Biopsy specimen from cecal polyp, H&E staining. (B) Biopsy specimen from cecal polyp, H&E staining. (C) Biopsy specimen from cecal polyp, H&E staining, higher magnification. (D) Biopsy specimen from cecal polyp, H&E staining, higher magnification.", "detailed_caption": "Biopsy Specimen from a Cecal Polyp (Hematoxylin and Eosin). Panel A shows polypoid colonic mucosa with expansion of the lamina propria by an inflammatory infiltrate composed of histiocytes, lymphocytes, and eosinophils. Panel B shows two profiles of nematode larvae (circles). At higher magnification, Panel C shows a cross section of the larvae and Panel D shows a longitudinal section of the larvae.", "modalities": ["pathology"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/25207769/fig/4.jpg"], "caption": "(A) Small intestine biopsy specimen, H&E staining. (B, C, D) Small intestine biopsy specimen, H&E staining.", "detailed_caption": "Biopsy Specimen from a Meckel’s Diverticulum (Hematoxylin and Eosin). A specimen from a Meckel’s diverticulum resected 4 years earlier was reviewed for the presence of strongyloides larvae. The current examination of a segment of small intestine (Panel A) revealed very few ova and developing and late-stage Strong. stercoralis larvae (Panels B, C, and D, arrows).", "modalities": ["pathology"]}], "diagnosis": "Streptococcus bovis-associated meningitis and the Strongyloides stercoralis hyperinfection syndrome", "standardized_diagnosis": [{"original_term": "Streptococcus bovis meningitis", "corrected_term": null, "code": "1B53", "title": "Meningitis due to Streptococcus", "chapter": "Certain infectious or parasitic diseases", "primary": false}, {"original_term": "Strongyloides stercoralis hyperinfection syndrome", "corrected_term": null, "code": "1F6B", "title": "Gastric strongyloides stercoralis", "chapter": "Certain infectious or parasitic diseases", "primary": true}]}, "year": 2014, "classification": "Infectious and immunologic disorders"}
+{"pmid": "26811347", "patient_info": {"basic_info": "43-year-old woman presented with multiple lung and brain metastases.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/26811347/fig/1.jpg"], "caption": "Lung biopsy specimen, H&E staining, scale bar 100 μm.", "detailed_caption": "A: Hematoxylin-eosin staining of a thoracoscopic lung biopsy specimen of the primary tumor obtained at diagnosis demonstrates an adenocarcinoma histology, with the sample originating from the lung and shown at a scale bar of 100 μm.", "modalities": ["pathology"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/26811347/fig/2.jpg"], "caption": "CT of the chest, contrast-enhanced, pre-treatment.", "detailed_caption": "Pre-treatment contrast-enhanced CT of chest showing primary tumor", "modalities": ["ct"]}], "diagnosis": "ALK rearrangement–positive lung adenocarcinoma with multiple lung and brain metastases (confirmed by FISH analysis showing ALK gene rearrangement)", "standardized_diagnosis": [{"original_term": "ALK-positive lung adenocarcinoma", "corrected_term": null, "code": "2C25.0", "title": "lung adenocarcinoma", "chapter": "Diseases of the respiratory system", "primary": true}, {"original_term": "Lung metastases", "corrected_term": null, "code": "2D70", "title": "metastasis in lung", "chapter": "Neoplasms", "primary": false}, {"original_term": "Brain metastases", "corrected_term": null, "code": "2D50", "title": "brain metastases", "chapter": "Neoplasms", "primary": false}]}, "year": 2016, "classification": "Neoplastic diseases"}
+{"pmid": "26840137", "patient_info": {"basic_info": "A 69-year-old retired nuclear engineer presented with fatigue and an unintentional weight loss of 14 kg over the preceding year. His medical history included hypertension, hyperlipidemia, gastroesophageal reflux, and adult-onset diabetes mellitus. His medications included atorvastatin, glipizide, omeprazole, lisinopril, hydrochlorothiazide, and amlodipine. He had a history of heavy tobacco use but had quit smoking 30 years earlier. His hobbies included dancing with his wife. Review of systems was negative for fevers, nausea, orthopnea, edema, or paroxysms of nocturnal dyspnea. Physical examination revealed a systolic murmur, elevated jugular venous pulse to 12 cm of water above the right atrium without Kussmaul's sign, no pulsus paradoxus, no pericardial friction rub but a soft early-peaking systolic murmur at the right upper sternal border, mild crackles at both lung bases, soft nontender abdomen without hepatosplenomegaly, no cervical/inguinal/axillary lymphadenopathy, normal neurological examination with 5/5 muscle strength and 2+ reflexes throughout, and no joint swelling or rash. Vital signs on admission showed afebrile temperature, heart rate 72 bpm, blood pressure 165/64 mmHg, respiratory rate 16, and oxygen saturation 96% on ambient air. During his second hospitalization 3 months later, he had developed cognitive impairment with difficulty maintaining conversation, word-finding problems, completing only two iterations of serial 7 subtractions, and naming only 6 animals in 1 minute on category-fluency testing.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/26840137/fig/1.jpg"], "caption": "CT of the abdomen.", "detailed_caption": "CT scan of the abdomen showed perirenal inflammation manifested as soft-tissue stranding surrounding both kidneys and the infrarenal aorta, sparing the posterior aortic wall and inferior vena cava, with masslike heterogeneous thickening of the renal cortexes bilaterally and multiple soft-tissue nodules in the omentum suggestive of carcinomatosis.", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/26840137/fig/2.jpg"], "caption": "MRI of the brain, T2-weighted sequence.", "detailed_caption": "T2-weighted MRI of the brain revealed bilateral retro-orbital masses.", "modalities": ["mri"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/26840137/fig/3.jpg"], "caption": "Cardiac MRI.", "detailed_caption": "Cardiac MRI showed pericardial effusion and enhancing masslike involvement of the entire right atrial wall and right atrioventricular groove.", "modalities": ["mri"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/26840137/fig/4.jpg"], "caption": "Technetium-99 whole-body bone scan.", "detailed_caption": "Technetium-99 whole-body bone scan revealed increased metadiaphyseal uptake at both knees, distal tibias, and distal radii.", "modalities": ["pet/spect/nuclear"]}, {"type": "fig", "id": 5, "subfig": null, "path": ["images/26840137/fig/5.jpg"], "caption": "(A) Tibial biopsy, H&E staining. (B) Tibial biopsy, CD68 immunohistochemistry.", "detailed_caption": "Tibial biopsy specimen showed sclerotic bony trabeculae with CD68+ foamy histiocytes infiltrating the bone marrow cavities, with hematoxylin and eosin staining in Panel A and CD68 staining in Panel B.", "modalities": ["pathology"]}], "diagnosis": "Erdheim-Chester disease", "standardized_diagnosis": [{"original_term": "Erdheim-Chester disease", "corrected_term": null, "code": "2B31.Y&XH1VJ3", "title": "Erdheim-Chester disease", "chapter": "Neoplasms", "primary": true}]}, "year": 2016, "classification": "Neoplastic diseases"}
+{"pmid": "26867450", "patient_info": {"basic_info": "A 30-year-old male baker from South India presented with 6 weeks of low-grade fever, fatigue, and progressive polyarthritis affecting large joints of arms and legs, without small joint involvement or diurnal variation. He had no relevant medical history and denied tuberculosis contact or high-risk sexual behavior. Physical examination revealed fever (38.9°C), multiple dull red tender nodules on forehead, left cheek, and sternum, and a solitary 1x1 cm firm right cervical lymph node. Musculoskeletal examination showed active arthritis of knee, hip, and elbow joints bilaterally. The liver was palpable 4 cm below right costal margin (liver span 16 cm). Laboratory findings showed normal full blood count and erythrocyte sedimentation rate (6 mm/h protein (131 mg/L). Tests were negative for antinuclear antibodies, IgM-rheumatoid factor, anti-neutrophil cytoplasmic antibodies, antistreptolysin O, and antiDNase B antibodies. Four blood cultures were sterile, and tests for Gonococci and syphilis were negative. Serum calcium and angiotensin converting enzyme were normal.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/26867450/fig/1.jpg"], "caption": "Chest radiograph.", "detailed_caption": "Chest radiograph showed bilateral upper-zone and mid-zone parenchymal infiltrates with nodular lesions, worse on the left side", "modalities": ["x-ray"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/26867450/fig/2.jpg"], "caption": "Lymph node biopsy, Ziehl-Neelsen staining.", "detailed_caption": "Lymph node biopsy showed large areas of necrosis rimmed by epithelioid cell granulomas with occasional Langhans' multinucleated giant cells. Ziehl-Neelsen staining was positive for acid-fast bacilli", "modalities": ["pathology"]}], "diagnosis": "Tuberculous lymphadenitis with Poncet's disease (tubercular rheumatism)", "standardized_diagnosis": [{"original_term": "Tuberculous lymphadenitis", "corrected_term": null, "code": "1B12.6", "title": "tuberculous lymphadenitis", "chapter": "Certain infectious or parasitic diseases", "primary": true}, {"original_term": "Poncet's disease", "corrected_term": null, "code": "1B12.40", "title": "Poncet's disease", "chapter": "Certain infectious or parasitic diseases", "primary": false}]}, "year": 2016, "classification": "Infectious and immunologic disorders"}
+{"pmid": "26946926", "patient_info": {"basic_info": "A 15-year-old female with only a history of an ovarian cyst presented initially with left arm pain, frontal headaches, and conjunctival hyperaemia, without fever or neurological deficits. Seven days later, she developed acute lower back pain, paraesthesia on the left side of her body, and left arm weakness. On admission, she showed slight left-sided weakness, proximal pain of left arm and leg (worse with movement), no fever, no signs of meningism, and Glasgow Coma Score of 15. Laboratory analysis revealed elevated leucocytes (11.5 × 10⁹/L) and polymorphonuclear leucocytes (9.2 × 10⁹/L). By day 2, she developed dysuria and urinary retention, worsening left-sided hemiparesis and pain, loss of temperature sensation below T2 dermatome on left and T4 on right, and bilateral Hoffman signs. Cerebrospinal fluid examination and electromyography were normal. PCR detected high concentrations of Zika virus in serum, urine, and cerebrospinal fluid. All other viral, bacterial and autoimmune tests were negative.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/26946926/fig/1.jpg"], "caption": "MRI T2-weighted sequence of the thoracic and cervical spinal cord.", "detailed_caption": "T2 sequences showed hypersignal in the thoracic cord T5-T8 and enlargement of the cervical spinal cord", "modalities": ["mri"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/26946926/fig/2.jpg"], "caption": "Sagittal STIR MRI of the cervical spinal cord (C4–C7).", "detailed_caption": "Sagittal STIR sequences showed hypersignal in the cervical spinal cord C4-C7", "modalities": ["mri"]}], "diagnosis": "Acute myelitis due to Zika virus infection", "standardized_diagnosis": [{"original_term": "Acute myelitis", "corrected_term": null, "code": "1D02.Z", "title": "acute myelitis", "chapter": "Diseases of the nervous system", "primary": true}, {"original_term": "Zika virus infection", "corrected_term": null, "code": "1D48", "title": "Zika virus infection", "chapter": "Certain infectious or parasitic diseases", "primary": false}]}, "year": 2016, "classification": "Infectious and immunologic disorders"}
+{"pmid": "26981949", "patient_info": {"basic_info": "This is a 56-year-old woman who underwent radical nephrectomy and lymph-node resection for clear-cell renal-cell carcinoma in February 2012. During subsequent follow-up, a single metastasis to the body of the left mandible was detected. She was referred in October 2012 for resection of the mandibular metastasis and fibular free-flap reconstruction. Two months later, bone scintigraphy revealed good vascularization of the flap, though additional bone metastases to the right humerus and pelvis were detected. In January 2014, the patient presented with visible bone exposure in the area of the graft with inflammation of surrounding tissues. Over days, there was an increase in bone exposure and necrosis without evidence of acute secondary infection.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/26981949/fig/1.jpg"], "caption": "(A) CT, April 2013. (B) Intraoral clinical photograph, January 2014. (C) CT, March 2014.", "detailed_caption": " Occurrence of Osteonecrosis in a Patient over a Period of a Few Months. Panel A shows complete bone healing on computed tomography (CT) (April 2013). Panel B shows intraoral exposure of the bone graft (January 2014). Panel C shows bone sequestration and osteonecrosis on CT (March 2014).", "modalities": ["ct", "clinical"]}], "diagnosis": "Osteochemonecrosis of fibular bone graft", "standardized_diagnosis": [{"original_term": "Osteochemonecrosis", "corrected_term": "Aseptic necrosis of bone", "code": "FB81.Z", "title": "aseptic necrosis of bone", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": true}]}, "year": 2016, "classification": "Neoplastic diseases"}
+{"pmid": "26819809", "patient_info": {"basic_info": "A 73-year-old man presented with abdominal distention and maldigestion for 1 month. The patient had a medical history of diabetes and hypertension. On physical examination, an intraabdominal mass was palpated in the epigastric area, and the patient did not complain of pain and tenderness. Laboratory findings showed no abnormalities except an elevated fasting glucose level.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/26819809/fig/1.jpg"], "caption": "CT of the stomach, anterior wall.", "detailed_caption": "Computed tomography shows an 18.0 × 15.0 cm irregular enhancing soft tissue mass with exophytic growth on the anterior wall of the stomach without regional enlarged lymph nodes", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/26819809/fig/2.jpg"], "caption": "Gross photograph of the resected stomach.", "detailed_caption": "Figure 2 presents gross photographs of the resected gastric specimen, revealing a multi-lobulated, yellow, soft, and fleshy mass with focal involvement of adjacent adipose tissue, consistent with a large exophytic tumor from the anterior wall of the stomach.", "modalities": ["pathology"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/26819809/fig/3.jpg"], "caption": "(A) Tumor section, H&E staining, 100× magnification. (B) Tumor section, H&E staining, 100× magnification. (C) Tumor section, H&E staining, 400× magnification. (D) Tumor section, H&E staining, 400× magnification.", "detailed_caption": "Microscopic features. (A) At lower magnification, a hypercellular tumor lesion with diffuse sheet-like growth pattern is identified (H&E, ×100). (B) There are focal areas of hyalinized stroma with slit-like vessels and some capillaries (H&E, ×100). (C) At higher magnification, epithelioid tumor cells with prominent cytoplasmic vacuoles and moderately pleomorphic nuclei are identified (H&E, ×400). (D) Frequent mitotic figures (arrows) are observed (H&E, ×400).", "modalities": ["pathology"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/26819809/fig/4.jpg"], "caption": "(A) Immunohistochemical staining, 200× magnification, CD117. (B) Immunohistochemical staining, 200× magnification, CD34. (C) Immunohistochemical staining, 200× magnification, DOG1.", "detailed_caption": "Immunohistochemical staining (×200). Tumor cells are negative for CD117 (A) and CD34 (B). (C) The membrane and cytoplasm of tumor cells are stained for DOG1.", "modalities": ["pathology"]}], "diagnosis": "C-kit negative GIST with a high risk of malignant behavior", "standardized_diagnosis": [{"original_term": "Gastrointestinal stromal tumor", "corrected_term": null, "code": "2B5B.Z", "title": "Gastrointestinal stromal tumour of unspecified gastrointestinal sites", "chapter": "Neoplasms", "primary": false}, {"original_term": "Malignant gastrointestinal stromal tumor", "corrected_term": null, "code": "2B5B.Y", "title": "Malignant GIST - [gastrointestinal stromal tumour] of large intestine", "chapter": "Neoplasms", "primary": true}]}, "year": 2015, "classification": "Neoplastic diseases"}
+{"pmid": "27126444", "patient_info": {"basic_info": "A 52-year-old man was brought to the emergency department with acute onset shortness of breath and confusion. On physical examination, he was agitated and taking deep breaths at a rate of 28/min. Initial venous blood gas on ambient air showed pH 7.02, partial pressure of carbon dioxide 3.4 kPa, and partial pressure of oxygen 4.1 kPa. Laboratory studies revealed blood glucose 7.1 mmol/L (reference range 4.4-6.1), lactic acid 6.6 mmol/L (0.5-2.2), serum anion gap 19 mmol/L (8-16), serum osmolality 318 mmol/kg (275-295), serum osmolal gap 20 mmol/kg (<10), and acute kidney injury with creatinine 141 μmol/L (70-120). Blood ethanol was undetectable and urine drug screen was negative. Urinalysis showed haematuria and no ketones.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/27126444/fig/1.jpg"], "caption": "Light microscopy of urine sample.", "detailed_caption": "Light microscopy of urine sample shows elongated crystals of calcium oxalate monohydrate", "modalities": ["lab"]}], "diagnosis": "Ethylene glycol poisoning", "standardized_diagnosis": [{"original_term": "Ethylene glycol poisoning", "corrected_term": null, "code": "NE6Z", "title": "poisoning NOS", "chapter": "Injury, poisoning or certain other consequences of external causes", "primary": true}]}, "year": 2016, "classification": "Endocrine and metabolic disorders"}
+{"pmid": "27046368", "patient_info": {"basic_info": "A man in his 70s with a history of coronary artery disease, hypertension, and mild aortic stenosis presented with altered mental status, acute kidney injury requiring dialysis, and painful, dusky skin discoloration on his distal extremities. Three weeks prior to presentation, he had undergone coronary angiography and coronary artery bypass graft surgery after myocardial infarction. Laboratory examination revealed a white blood cell count of 9100/μL with 22% eosinophils, blood urea nitrogen level of 70 mg/dL (25 mmol/L), and creatinine level of 6.1 mg/dL (539.2 μmol/L). Urinalysis showed 1+ blood and 2+ protein.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/27046368/fig/1.jpg"], "caption": "(A) Clinical photograph of the plantar aspect of the toes, performed three weeks after coronary angiography and coronary artery bypass graft surgery.", "detailed_caption": "A: Figure 1 (A) is a clinical photograph depicting the plantar aspect of several toes of a patient, showing blue macules, patches, and papules with associated skin changes over the lower extremity; this image was taken during the physical examination in the context of recent postprocedural complications, specifically three weeks after coronary angiography and coronary artery bypass graft surgery.", "modalities": ["clinical", "angiography"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/27046368/fig/2.jpg"], "caption": "Clinical photograph of the right hand, palmar surface.", "detailed_caption": "Shows pink papules scattered over the palmar surface of the right hand, with painful red macules over fingertips", "modalities": ["clinical"]}], "diagnosis": "Cholesterol embolization", "standardized_diagnosis": [{"original_term": "Cholesterol embolization", "corrected_term": null, "code": "BD53.4Z", "title": "cholesterol embolisation syndrome", "chapter": "Diseases of the circulatory system", "primary": true}]}, "year": 2016, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "26932979", "patient_info": {"basic_info": "A 29-year-old intravenous drug user presented to the acute medical unit feeling generally unwell. On clinical examination, he was found to be in septic shock with a fever of 39.2°C. Blood cultures grew Staphylococcus aureus in both bottles after one day. An echocardiogram showed a large irregular mass on the tricuspid valve.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/26932979/fig/1.jpg"], "caption": "CT of the thorax.", "detailed_caption": "Computed tomogram of the thorax shows multiple solid and cavitating lesions throughout both lung fields consistent with pulmonary septic emboli, along with bilateral pleural effusions and consolidation.", "modalities": ["ct"]}], "diagnosis": "Infective endocarditis of the tricuspid valve with pulmonary septic emboli", "standardized_diagnosis": [{"original_term": "Infective endocarditis", "corrected_term": null, "code": "BB40", "title": "infective endocarditis NOS", "chapter": "Diseases of the circulatory system", "primary": true}, {"original_term": "Pulmonary septic embolism", "corrected_term": null, "code": "BB00.Z", "title": "pulmonary embolism NOS", "chapter": "Diseases of the circulatory system", "primary": false}]}, "year": 2016, "classification": "Infectious and immunologic disorders"}
+{"pmid": "27050209", "patient_info": {"basic_info": "A previously healthy 2½-year-old boy presented with a 6-week history of progressive inability to bear weight on his right leg. His mother noted no recent trauma and reported that his medical history was notable only for speech delay. He had received all recommended vaccinations and took no medications. He had a slight cough and his mother thought he felt warm, but review of systems was otherwise unremarkable. His mother described him as a 'picky eater' with no changes in eating or drinking patterns. Initially evaluated after 1 week of limping, he continued to worsen over 4 weeks, developing pain in the left leg, began crawling instead of walking, and cried when either leg was touched. Two days before hospital presentation, his mother noted diffusely swollen gums with a black spot on the gingiva between his front teeth that bled when she attempted to wipe it away. On examination at the community hospital, he was afebrile with blood pressure 128/51 mmHg and pulse 164 beats per minute. He was an agitated toddler without spontaneous movement in the legs, with both legs diffusely tender to palpation and no evidence of bruising or joint swelling. On transfer to the university hospital, his temperature was 37.4°C, blood pressure 112/62 mmHg, and pulse 174 beats per minute. He was pale but did not appear ill, crying throughout examination. He had gingival hypertrophy with purplish discoloration of the mucosa between teeth and a diffuse petechial rash. He held his legs in a frog-legged position with diffuse tenderness, mild nonpitting edema, and no joint swelling. Tone was diminished in arms and legs, he could wiggle toes but did not actively move legs or withdraw from painful stimuli. Biceps and brachioradialis reflexes were normal, patellar reflexes were brisk, no ankle clonus, and toes went up bilaterally on plantar stimulation.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/27050209/fig/1.jpg"], "caption": "(A) Frontal radiograph of the left femur. (B) CT of the left femur, sagittal view.", "detailed_caption": "A frontal radiograph of the left femur (Panel A) shows lucent metaphyseal bands (arrows) and subtle cortical thinning. A CT image in the sagittal view (Panel B) confirms the radiographic finding of submetaphyseal band (arrow). There is suggestion of subperiosteal fullness in the femoral metaphysis (arrowhead).", "modalities": ["x-ray", "ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/27050209/fig/2.jpg"], "caption": "Axial T2-weighted fat-saturated MRI of the distal femurs.", "detailed_caption": "An axial T2-weighted fat-saturated MRI at the level of the distal femurs shows bilateral elevated periosteum (arrows) and a heterogeneous subperiosteal signal, possibly representing hematoma (arrowheads).", "modalities": ["mri"]}], "diagnosis": "Scurvy (vitamin C deficiency)", "standardized_diagnosis": [{"original_term": "Scurvy", "corrected_term": null, "code": "5B56.0", "title": "Scurvy", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": true}, {"original_term": "Vitamin C deficiency", "corrected_term": null, "code": "5B56.Z", "title": "Vitamin C deficiency", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": false}]}, "year": 2016, "classification": "Endocrine and metabolic disorders"}
+{"pmid": "26962732", "patient_info": {"basic_info": "An 80-year-old man with type 2 diabetes mellitus, peripheral arterial disease, hypertension, coronary arteriosclerosis, congestive heart failure, hyperlipidemia, and gout was admitted to this hospital because of anorexia, weight loss, abdominal pain, and diarrhea. The patient had emigrated from Southeast Asia 22 years earlier and now lived in an area of New England with his wife and daughter. His family history was negative for gastrointestinal, renal, and immunodeficiency diseases. He drank alcohol rarely and did not smoke cigarettes or use illicit drugs. On examination, he appeared thin and chronically ill. The temperature was 36.7°C, pulse 104 beats per minute, blood pressure 114/65 mm Hg, respiratory rate 16 breaths per minute, and oxygen saturation 97% while breathing ambient air. Crackles were heard in the posterior lower lung fields on auscultation. The abdomen was mildly tender, and the legs were edematous.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/26962732/fig/1.jpg"], "caption": "(A) FDG–PET scan. (B) CT scan, axial view, left upper lobe. (C) CT scan, coronal view, terminal ileum and ileocecal valve.", "detailed_caption": "Positron-Emission Tomographic and CT Scans. An 18F‑fluorodeoxyglucose–positron‑emission tomographic (FDG‑PET) scan (Panel A) shows increased FDG uptake in a nodule in the left upper lobe (arrow‑head) and in the region of the ileocecal valve (arrow). A corresponding axial CT scan (Panel B) shows a 1‑cm nodule in the left upper lobe (arrowhead). A corresponding coronal CT scan (Panel C) shows wall thickening of the terminal ileum and ileocecal valve (arrow) and adjacent fat stranding, as well as an infrarenal aortic aneurysm (asterisk).", "modalities": ["pet/spect/nuclear", "ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/26962732/fig/2.jpg"], "caption": "(A–E) Coronal CT scans of the abdomen obtained over a 30-month period.", "detailed_caption": "Serial CT Scans Obtained over a 30-Month Period. Coronal CT scans that were obtained over a 30‑month period (Panels A through E) show persistent thickening of the terminal ileum and ileocecal valve (arrows in all panels) and adjacent fat stranding. There is high‑attenuation fluid in the retroperitoneum (Panel A, asterisk), a finding consistent with hemorrhage due to a right renal subcapsu lar hematoma (not shown). There is also an infrarenal aortic aneurysm (Panel B, asterisk), which shows endovascular repair on follow‑up images (Panels C and D).", "modalities": ["ct"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/26962732/fig/3.jpg"], "caption": "Colonoscopy of the ileocecal valve.", "detailed_caption": "Colonoscopic image shows a nonobstructive fungating mass (4 cm by 2 cm) visualized at the ileocecal valve.", "modalities": ["endoscopy"]}, {"type": "tab", "id": 1, "subfig": null, "path": ["images/26962732/tab/4.jpg"], "caption": "Laboratory results.", "detailed_caption": "Laboratory data showing progressive anemia with hemoglobin decreasing from 12.9 g/dl to 8.8 g/dl over time, elevated white-cell count on admission of 11,460 per mm³ with neutrophilia (82.7%), consistently elevated erythrocyte sedimentation rate (65-96 mm/hr), elevated C-reactive protein (52.5-220.6 mg/liter), elevated creatinine (4.13-8.09 mg/dl) consistent with end-stage renal disease, and positive enzyme-linked immunospot test for cell-mediated immune response to Mycobacterium tuberculosis (interferon-γ release assay).", "modalities": ["lab"]}], "diagnosis": "Tuberculous enteritis", "standardized_diagnosis": [{"original_term": "Tuberculous enteritis", "corrected_term": null, "code": "1B12.7", "title": "Tuberculous enteritis", "chapter": "Certain infectious or parasitic diseases", "primary": true}]}, "year": 2016, "classification": "Infectious and immunologic disorders"}
+{"pmid": "27139063", "patient_info": {"basic_info": "A 79-year-old man with a history of hypertension, stroke, and glaucoma was brought to the emergency department after being found unresponsive by a caregiver. He was cold to the touch with vital signs showing blood pressure of 85/55 mm Hg, heart rate of 36/min, respiratory rate of 14/min, and pulse oximetry of 100% on ambient air. Multiple temperature measurements, including core temperature assessment via rectal method, did not yield a detectable temperature. Physical examination revealed clear bilateral chest auscultation. Chest radiographs and computed tomography of the head were negative for any acute pathology.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/27139063/fig/1.jpg"], "caption": "Electrocardiogram at presentation.", "detailed_caption": "Initial electrocardiogram on presentation showing severe sinus bradycardia with attenuated P waves and classic Osborn waves pathognomonic of hypothermia", "modalities": ["electrophysiology"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/27139063/fig/2.jpg"], "caption": "ECG, lead V3.", "detailed_caption": "Osborn wave best seen in lead V3, characterized by a 'delta' or 'camel's hump' elevation in the terminal portion of the QRS deflection", "modalities": ["electrophysiology"]}], "diagnosis": "Severe hypothermia", "standardized_diagnosis": [{"original_term": "Severe hypothermia", "corrected_term": null, "code": "NF02", "title": "Hypothermia", "chapter": "Injury, poisoning or certain other consequences of external causes", "primary": true}]}, "year": 2016, "classification": "Endocrine and metabolic disorders"}
+{"pmid": "27143854", "patient_info": {"basic_info": "12-year-old Saudi boy presented with severe spontaneous dental pain for 3 days. He was the fourth of five siblings. Parents were not related. His mother had 5 previous spontaneous abortions in first trimester. Mother took acetazolamide 1000mg/day for idiopathic intracranial hypertension before and throughout pregnancy. Patient was born at full term via spontaneous vaginal delivery, weighing 2,270g (below 5th percentile). He presented without major dysmorphic features, was intelligent with good behavior, and had normal skin, hair and nails. Intraoral exam showed mixed dentition with retained primary lower central incisors, hypocalcified permanent upper incisors, and multiple carious teeth. Tongue, floor of mouth, upper lip, hard and soft palate were normal.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/27143854/fig/1.jpg"], "caption": "Clinical photograph of both hands.", "detailed_caption": "A: Clinical photograph showing ectrodactyly of the index and middle fingers in both hands.", "modalities": ["clinical"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/27143854/fig/2.jpg"], "caption": "Clinical photograph of the feet.", "detailed_caption": "B: Clinical photograph of the feet showing syndactyly between the third and fourth toes of the left foot, as well as ectrodactyly of the second toe and a deformed second toe of the right foot with a surgical scar.", "modalities": ["clinical"]}, {"type": "fig", "id": 1, "subfig": "C", "path": ["images/27143854/fig/3.jpg"], "caption": "Panoramic radiograph of the jaws.", "detailed_caption": "Panoramic radiograph shows oligodontia of 16 permanent teeth", "modalities": ["x-ray"]}], "diagnosis": "Isolated ectrodactyly with possible teratogenic cause, as diagnosed by genetic consultant after normal skeletal survey, chromosomal study, abdominal ultrasound and cardiology evaluation", "standardized_diagnosis": [{"original_term": "Ectrodactyly", "corrected_term": null, "code": "LB99.8", "title": "ectrodactyly", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": true}]}, "year": 2016, "classification": "Genetic and congenital disorders"}
+{"pmid": "27295959", "patient_info": {"basic_info": "A 62-year-old woman presented with a 10-day history of left-sided headache. Two days after headache onset, she developed a painful and pruritic left-sided rash. In the 24 hours before presentation, her left eye became painful and photophobic. On examination, she had discrete tender scabbed lesions extending into the hairline. No lesions were present on the tip of her nose or auditory canal. Ocular examination revealed unaided visual acuity of 6/6 in the right eye and 6/9 in the left eye, with full ocular motility. Intraocular pressures were 10 mm Hg (right) and 12 mm Hg (left). The left cornea was clear without fluorescein staining. Slit lamp examination showed 1+ cells and flare in the left anterior chamber. Dilated funduscopy showed a clear vitreous and healthy fundus. Right ocular examination was normal.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/27295959/fig/1.jpg"], "caption": "Clinical photograph of the face.", "detailed_caption": "Figure 1 is a clinical photograph showing the patient's face with left-sided scabbed skin lesions that respect the midline, associated with swelling of the left upper eyelid and conjunctival injection. The image documents the dermatological manifestation over the upper lid and forehead, extending into the hairline, and visually demonstrates the unilateral distribution without crossing to the contralateral side, which is consistent with the ophthalmic dermatome (V1) involvement on presentation.", "modalities": ["clinical"]}], "diagnosis": "Left herpes zoster ophthalmicus (HZO) with associated anterior uveitis", "standardized_diagnosis": [{"original_term": "Herpes zoster ophthalmicus", "corrected_term": null, "code": "1E91.1", "title": "Herpes zoster ophthalmicus", "chapter": "Certain infectious or parasitic diseases", "primary": true}, {"original_term": "Anterior uveitis", "corrected_term": null, "code": "9A96.Z", "title": "Anterior uveitis", "chapter": "Diseases of the visual system", "primary": false}]}, "year": 2016, "classification": "Infectious and immunologic disorders"}
+{"pmid": "27175122", "patient_info": {"basic_info": "A 22-year-old male patient with known Crohn's disease presented to the emergency room with massive hematochezia and hypovolemic shock. He was severely malnourished with a BMI of 17.8 kg/m2. Initial laboratory findings showed WBC count 22,850/µL, hemoglobin 8.8 g/dL, platelets 157,000/µL, CRP 0.03 mg/dL, protein 3.0 g/dL, albumin 1.8 g/dL, triglyceride 73 mg/dL, cholesterol 119 mg/dL, BUN 6 mg/dL, creatinine 1.09 mg/dL, and prothrombin time/international normalized ratio 20.6 s (1.78). After a period of treatment and fasting, he developed progressive blurred vision, cognitive dysfunction, intermittent confused speech, dizziness, and experienced a brief generalized tonic-clonic seizure lasting 10 minutes. Neurologic examination found slight latent nystagmus in the lateral gaze.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/27175122/fig/1.jpg"], "caption": "(A) Abdominal CT, horizontal section, ileocecal valve and terminal ileum. (B) Abdominal CT, horizontal section, small bowel. (C) Abdominal CT, coronal view, right perianal area. (D) Abdominal CT, coronal view, small bowel.", "detailed_caption": "Abdominal CT findings. (A) In the horizontal section, CD involvement of the ileocecal valve and terminal ileum is seen. (B) In the horizontal section, multisegmental small bowel wall thickening is found. (C) In the coronal view, a rim-enhancing low-density lesion in the right-side perianal area is seen. (D) In the coronal view, multifocal small bowel wall thickening is also noticed.", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/27175122/fig/2.jpg"], "caption": "(A) Brain MRI, horizontal section, T2-weighted image, mammillary body region. (B) Brain MRI, horizontal section, T2-weighted image, tectum region. (C) Brain MRI, horizontal section, T2-weighted image, 4th ventricle floor. (D) Brain MRI, T2-weighted image, medial thalamus.", "detailed_caption": "Brain MRI findings. (A) In the horizontal section of a T2-weighed image (T2WI), a high signal intensity lesion is seen at both the right and left sides of the mammillary body. (B) In same scene of the T2WI, a high signal intensity lesion is present at both the right and left tectum. (C) In the horizontal section of the T2WI, the 4th ventricle floor showing a high signal intensity lesion. (D) At the medial thalamus, a high signal intensity lesion is noted.", "modalities": ["mri"]}], "diagnosis": "Wernicke's encephalopathy in a patient with Crohn's disease", "standardized_diagnosis": [{"original_term": "Wernicke's encephalopathy", "corrected_term": null, "code": "5B5A.10", "title": "Wernicke encephalopathy", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": true}, {"original_term": "Crohn's disease", "corrected_term": null, "code": "DD70.Z", "title": "Crohn disease", "chapter": "Diseases of the digestive system", "primary": false}]}, "year": 2016, "classification": "Neurological disorders"}
+{"pmid": "26862926", "patient_info": {"basic_info": "25-year-old previously healthy European woman who lived and worked as a volunteer in Natal, Brazil. At 13 weeks gestation, she developed high fever followed by severe musculoskeletal pain, retroocular pain, and itching generalized maculopapular rash. Reduced fetal movements noticed at 28 weeks gestation. Physical exam showed only microcephaly as external anomaly. Fetal body weight was 1470g (5th percentile), length 42cm (10th percentile), head circumference 26cm (1st percentile).", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A-B", "path": ["images/26862926/fig/1.jpg"], "caption": "Ultrasonography at 32 weeks, brain and placenta.", "detailed_caption": "Ultrasonography at 32 weeks showed numerous calcifications in brain and placenta, dilated occipital horn of lateral ventricle", "modalities": ["ultrasound"]}, {"type": "fig", "id": 1, "subfig": "C-D", "path": ["images/26862926/fig/2.jpg"], "caption": "(C) Gross photograph of fetal brain, coronal slice, autopsy. (D) Gross photograph of fetal brain, coronal slice, autopsy.", "detailed_caption": "C: This panel presents a gross photograph of a coronal slice of fetal brain obtained at autopsy, showing multifocal cortical and subcortical white matter calcifications and almost complete absence of cortical gyration, with poorly delineated but developed basal ganglia and widely open sylvian fissures bilaterally; the third ventricle is not dilated. D: This panel shows another gross brain coronal slice demonstrating markedly dilated bodies of the lateral ventricles (with the left side collapsed), dilated temporal horns, well-developed thalami and left hippocampus, while the contralateral hippocampal structure is unrecognizable due to autolysis. (Source: Figure 1, panels C and D, page 3, with caption for technical context on acquisition.)", "modalities": ["pathology"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/26862926/fig/3.jpg"], "caption": "(A) Brain tissue, H&E staining, low magnification. (B) Brain tissue, H&E staining, higher magnification. (C) Brain tissue, immunohistochemistry for glial fibrillary acid protein (clone 6F2 [Dako]). (D) Brain tissue, immunohistochemistry for HLA-DR (clone TAL 1B5 [Dako]). (E) Lumbar spinal cord, neurofilament immunohistochemical staining (clone 2F11 [Dako]), cross-section. (F) Fetal brain tissue, indirect immunofluorescence.", "detailed_caption": "Microscopic Analysis of Brain Tissue. Panel A shows thickened leptomeninges (black arrowhead) and irregular cortical and subcortical calcifications (asterisks) associated with cortical displacement (arrows), with preserved germinative matrix (white arrowhead); gyration is absent. Panel B shows higher magnification of calcifications with filamentous structures (arrow), possibly representing encrusted, damaged axons and dendrites, and oval and polygonal structures (arrowheads), possibly representing encrusted, damaged neuronal-cell bodies (hematoxylin and eosin staining in Panels A and B). Panel C shows immunohistochemical labeling of proliferated reactive astrocytes that extend into the subarachnoid space (asterisk) (glial fibrillary acid protein, clone 6F2 [Dako]). Panel D shows immunohistochemical labeling of numerous activated microglial cells and macrophages in the cortex (full thickness marked with a line) and subcortical white matter (lower part of the figure). Nonspecific staining of the calcifications is present (arrow). Focal leptomeningeal infiltrates of macrophages are seen (arrowhead) (HLA-DR, clone TAL 1B5 [Dako]). Panel E shows neurofilament immunohistochemical staining of axons in a cross-section of the lumbar spinal cord with severe Wallerian degeneration of the lateral corticospinal tracts (black asterisks), moderate involvement of other descending tracts (arrows), and well-preserved ascending tracts in the dorsal columns (white asterisk) (neurofilament, clone 2F11 [Dako]). Panel F shows indirect immunofluorescence of fetal brain tissue, revealing a green granular intracytoplasmic reaction (see also inset). The yellow signals adjacent to the green granules indicate auto- fluorescence of lipofuscin, suggesting that viral particles are located in the cytoplasm of neurons.", "modalities": ["pathology"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/26862926/fig/4.jpg"], "caption": "(A) Electron microscopy of ultrathin section of fetal brain. (B) Electron microscopy of ultrathin section of fetal brain, magnified view. (C) Electron microscopy of ultrathin section of fetal brain. (D) Electron microscopy, negative staining.", "detailed_caption": "Electron Microscopy of Ultrathin Sections of Fetal Brain and Staining of a Flavivirus-like Particle. Panel A shows a damaged brain cell with a cluster of dense virions located in the disrupted endoplasmic reticulum. Remains of membranes derived from different cellular compartments and filamentous structures are also seen. A magnified view of the boxed area with virions clearly visible (arrows) is shown in Panel B. Panel C shows a group of enveloped structures with a bright interior, presumably indicating viral replication (arrow). Panel D shows a negatively stained viral particle with morphologic characteristics consistent with those of Flaviviridae viruses (arrow).", "modalities": ["pathology"]}], "diagnosis": "Vertical transmission of Zika virus infection causing severe fetal brain injury and microcephaly", "standardized_diagnosis": [{"original_term": "Congenital Zika virus infection", "corrected_term": null, "code": "KA62.0", "title": "Congenital Zika virus infection", "chapter": "Certain conditions originating in the perinatal period", "primary": true}, {"original_term": "Fetal brain injury", "corrected_term": null, "code": "KA40.01", "title": "brain haemorrhage in fetus or newborn due to birth injury", "chapter": "Certain conditions originating in the perinatal period", "primary": false}, {"original_term": "Microcephaly", "corrected_term": null, "code": "LA05.0", "title": "Microcephaly", "chapter": "Developmental anomalies", "primary": false}]}, "year": 2016, "classification": "Infectious and immunologic disorders"}
+{"pmid": "27357242", "patient_info": {"basic_info": "A 65-year-old man with a history of hypertension and laminectomy presented for evaluation. He had never smoked. His family history was notable for prostate cancer in his father. His prostate-specific antigen and digital rectal examination results were normal.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/27357242/tab/1.jpg"], "caption": "Urine dipstick test.", "detailed_caption": "Urine dipstick results showed: negative for glucose, protein, ketones, nitrite, leukocytes, and bilirubin; trace blood; specific gravity 1.015; pH 7.5; urobilinogen 1 EU/dL; clear yellow appearance", "modalities": ["lab"]}], "diagnosis": "False positive dipstick hematuria (confirmed by subsequent negative microscopic urinalysis showing absence of RBCs)", "standardized_diagnosis": [{"original_term": "False positive hematuria", "corrected_term": null, "code": "MF50.4Z", "title": "Haematuria", "chapter": "Symptoms, signs or clinical findings, not elsewhere classified", "primary": true}]}, "year": 2016, "classification": "Gastrointestinal disorders"}
+{"pmid": "27068836", "patient_info": {"basic_info": "24-year-old male with quadriplegia from a car accident 5 years prior that required cervical spine stabilization with metal plates. Presented with dysphagia, odynophagia, neck pain, fever, and chills. Medical history significant for quadriplegia requiring cervical spine stabilization with metal plates. CT and MRI showed large paraspinal abscess extending from cervical spine 4 to thoracic spine 11.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/27068836/fig/1.jpg"], "caption": "(A) Endoscopy of the posterior pharyngeal wall and anterior cervical spine. (B) Oesophagram of the region of the upper oesophageal sphincter.", "detailed_caption": "(A) Endoscopy showed a destroyed posterior pharyngeal wall, with the anterior cervical spine metal plate eroding into the pharynx (arrow). (B) An oesophagram showed substantial leakage into the mediastinum past the region of the upper oesophageal sphincter. No distinct upper oesophageal structure could be identifi ed.", "modalities": ["endoscopy", "general imaging"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/27068836/fig/2.jpg"], "caption": "(A) Endoscopic image of the hypopharynx at the level of the upper oesophageal sphincter. (B) Endoscopic image of the mediastinum. (C) Endoscopic image using an ultrathin endoscope retrogradely advanced via the gastro-oesophageal junction through the mediastinum into the oral cavity. (D) Endoscopic placement of serially aligned, telescoped self-expanding metal stents (18 mm diameter) across the mediastinal cavity. (E) Endoscopic image showing upper end of the proximal stent at the level of the interarytenoid folds.", "detailed_caption": "Figure 2 consists of a series of endoscopic images depicting the disrupted oesophagus and the process of stent placement. A: Endoscopic image at the hypopharynx at the level of the upper oesophageal sphincter (UOS) shows pus within the mediastinal cavity, indicating disruption of the oesophageal wall. B: On entering the mediastinum, copious pus is observed and no oesophageal structure is identifiable. C: After failed attempts to access the remnant oesophagus, an ultrathin endoscope is retrogradely advanced via the gastro-oesophageal junction into the remnant oesophagus, through the mediastinum, and into the oral cavity, demonstrating the continuity of the disrupted luminal path. D: Serially aligned, telescoped self-expanding metal stents (18 mm diameter) are positioned endoscopically across the mediastinal cavity to bridge the defect, with the lower end placed in the remnant oesophagus. E: The upper end of the proximal stent is precisely positioned at the level of the interarytenoid folds to avoid interference with the movements of the epiglottis during swallowing, with the vocal cords monitored for potential compression during stent expansion. These images collectively document the endoscopic and procedural details of the management of a full-thickness oesophageal defect with copious mediastinal pus and the technical aspects of self-expanding metal stent placement at the hypopharyngo-oesophageal junction and mediastinum.", "modalities": ["endoscopy"]}], "diagnosis": "Full-thickness oesophageal segment destruction (5 cm) by mediastinal abscess leading to direct communication between hypopharynx and mediastinum", "standardized_diagnosis": [{"original_term": "Mediastinal abscess", "corrected_term": null, "code": "CA43.3", "title": "Abscess of mediastinum", "chapter": "Diseases of the respiratory system", "primary": false}, {"original_term": "Full-thickness oesophageal segment destruction", "corrected_term": null, "code": "DA2Z", "title": "disorder of oesophagus", "chapter": "Diseases of the digestive system", "primary": true}, {"original_term": "Oesophageal perforation", "corrected_term": null, "code": "DA20.3Z", "title": "Perforation of oesophagus", "chapter": "Diseases of the digestive system", "primary": false}]}, "year": 2016, "classification": "Infectious and immunologic disorders"}
+{"pmid": "26857119", "patient_info": {"basic_info": "57-year-old postmenopausal woman presented with progressive low abdominal pain and urinary frequency for 4 months duration. No significant gynecological, medical, surgical, or family history. No bowel complaints. Physical examination revealed an enlarged, relatively nodular pelvic mass.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/26857119/fig/1.jpg"], "caption": "(A) Pelvic MRI, axial view, T2-weighted sequence. (B) Pelvic MRI, contrast-enhanced fat-suppressed T1-weighted sequence. (C) Pelvic MRI, sagittal view, T2-weighted sequence. (D) Pelvic MRI, coronal view, T2-weighted sequence.", "detailed_caption": "Pelvic magnetic resonance image of the pedunculated subserosal leiomyosarcoma of the uterus. a Axial T2 - weighted image showing a large pelvic mass (arrows) with heterogeneous signal intensity. b Contrast - enhanced fat - suppressed T1 - weighted image showing marked heterogeneous enhancement (arrow) of the mass. c, d On sagittal (c) and coronal (d) T2 - weighted images, the mass (arrows) abutted the uterus (U). Note the bridging vessels (arrowheads) between the uterus and the juxta - uterine mass.", "modalities": ["mri"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/26857119/fig/2.jpg"], "caption": "(A) Gross specimen of the uterus, pedunculated subserosal mass. (B) Gross cut section of the uterus and tumor.", "detailed_caption": "(a) Gross appearance of pedunculated subserosal leiomyosarcoma of the uterus. The mass was bilobed rather than bilateral. Both ovaries were normal in appearance. (b) Cut section of the uterus and tumor", "modalities": ["pathology"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/26857119/fig/3.jpg"], "caption": "Microscopic examination, mitotic activity ≥28/10 high-power fields.", "detailed_caption": "Microscopic examination showed highly atypical spindle cells with brisk mitotic activity (≥28/10 high-power fields) and necrosis", "modalities": ["pathology"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/26857119/fig/4.jpg"], "caption": "(A) Immunohistochemistry for SMA, 400× magnification. (B) Immunohistochemistry for desmin, 400× magnification. (C) Immunohistochemistry for h-caldesmon, 400× magnification.", "detailed_caption": "Immunohistochemistry revealed diffuse strong positivity for SMA (a), desmin (b), and h-caldesmon (c) (×400). SMA: smooth muscle actin", "modalities": ["pathology"]}], "diagnosis": "Pedunculated subserosal leiomyosarcoma of the uterus", "standardized_diagnosis": [{"original_term": "Leiomyosarcoma of uterus", "corrected_term": null, "code": "2B58.1", "title": "Leiomyosarcoma of uterus", "chapter": "Neoplasms", "primary": true}]}, "year": 2016, "classification": "Neoplastic diseases"}
+{"pmid": "27332906", "patient_info": {"basic_info": "A 57-year-old man presented to the emergency department with a 12-hour history of hematuria. Several hours after intravenous urography was performed with iodinated contrast material, generalized pustular eruptions developed, with multiple coalescing vesicles and pus-filled bullae observed on the trunk, arms, and legs. Laboratory studies revealed neutrophilia and mild eosinophilia with 55% neutrophils and 8% eosinophils, and a white-cell count of 6500 per cubic millimeter. Histopathological examination of the lesions showed pseudoepitheliomatous hyperplasia, full-thickness epidermal necrosis, and a diffuse neutrophilic dermal infiltrate. Microbiologic studies were negative.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "Panel A", "path": ["images/27332906/fig/1.jpg"], "caption": "Clinical photograph of the face.", "detailed_caption": "A: Clinical photograph showing multiple coalescing vesicles and pus-filled bullae on the patient’s face following intravenous administration of iodinated contrast material, indicative of a generalized pustular eruption associated with iododerma.", "modalities": ["clinical"]}, {"type": "fig", "id": 1, "subfig": "Panel B", "path": ["images/27332906/fig/2.jpg"], "caption": "Clinical photograph of the ear.", "detailed_caption": "Shows generalized pustular eruptions with multiple coalescing vesicles and pus-filled bullae on the patient's ear", "modalities": ["clinical"]}], "diagnosis": "Iododerma", "standardized_diagnosis": [{"original_term": "Iododerma", "corrected_term": null, "code": "ED81.Y", "title": "Iododerma", "chapter": "Diseases of the skin", "primary": true}]}, "year": 2016, "classification": "Dermatologic and mucosal diseases"}
+{"pmid": "27247513", "patient_info": {"basic_info": "A 9-year-old female presented in May 2013 with a 3-month history of occasional seizure-like movements in the early morning and 6-month history of dizziness and difficulty waking up in the morning, with symptoms disappearing after eating. She had gained 10 kg in the previous year due to increased eating. On the day of hospital visit, she experienced a generalized tonic-clonic seizure lasting 5 minutes in the early morning. She also complained of dizziness, occasional palpitation, weakness, hunger, and sweating. Physical examination revealed a well-nourished girl with normal vital signs, weighing 41 kg with BMI of 22.5 kg/m². Her abdomen was soft and non-tender without palpable masses or organomegaly, and neurologic examinations were normal. Laboratory evaluation showed severe hypoglycemia with serum glucose of 34 mg/dL, markedly elevated insulin of 142.7 μIU/mL, and elevated C-peptide of 5.88 ng/mL. Other endocrine markers were within normal ranges: serum PTH 15 pg/mL (normal 11-62), serum IGF-1 298 ng/mL (normal 78-517), serum prolactin 7.5 ng/mL (normal 2.7-19.7), and serum calcium 9.3 mg/dL (normal 8.8-10.8). She was not taking any prescription medications at the time of evaluation.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/27247513/fig/1.jpg"], "caption": "(A) MRI of the pancreas, T1-weighted sequence, mass measuring 1.3 × 1.5 cm. (B) MRI of the pancreas, T2-weighted sequence, head region.", "detailed_caption": "MR study of the pancreas. (A) A mass with hyposignal intensity on T1 weighted images, 1.3 × 1.5 cm. (B) High signal intensity on T2 weighted images at the head of the pancreas.", "modalities": ["mri"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/27247513/fig/2.jpg"], "caption": "Genetic analysis of MEN1 gene, exon 8, c.1121_1126delACCTGCinsGGGGA.", "detailed_caption": "Pedigree analysis showed familial MEN1 mutation (c.1121_1126delACCTGCinsGGGGA) found in the patient, patient's father, and younger sister. DNA sequencing analysis confirmed the heterozygous mutation in exon 8 of the MEN1 gene.", "modalities": ["genetic"]}], "diagnosis": "Multiple Endocrine Neoplasia Type 1 (MEN1) presenting as hypoglycemia due to insulinoma", "standardized_diagnosis": [{"original_term": "Multiple Endocrine Neoplasia Type 1", "corrected_term": null, "code": "2F7A.0", "title": "Multiple endocrine neoplasia type 1", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": false}, {"original_term": "Hypoglycemia", "corrected_term": null, "code": "5A41", "title": "hypoglycaemia NOS", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": false}, {"original_term": "Insulinoma", "corrected_term": null, "code": "2C10.1", "title": "Insulinoma", "chapter": "Neoplasms", "primary": true}]}, "year": 2016, "classification": "Endocrine and metabolic disorders"}
+{"pmid": "27144853", "patient_info": {"basic_info": "A 47-year-old man with a history of hypertension presented to an urgent care clinic with a 3-day history of swelling around his left eye and a sensation of tightness in his throat. He reported hoarseness but no pruritus, photophobia, diplopia, headache, changes in visual acuity, or pain. He had no wheezing or shortness of breath but experienced difficulty swallowing solids with a sensation of food sticking in his throat. He denied fevers, fatigue, gastrointestinal symptoms, or recent illness. On examination, his vital signs showed temperature 37.3°C, heart rate 95 beats per minute, blood pressure 130/80 mmHg, respiratory rate 18 breaths per minute, and oxygen saturation 100% on room air. He appeared comfortable, speaking in full sentences with a hoarse, muffled voice. Physical findings included edema surrounding the entire left eye with faint erythema, no ptosis, intact extraocular movements, equal and reactive pupils, and a mildly and diffusely enlarged tongue. Lungs were clear with no stridor. Two weeks later, he developed additional symptoms including worsening dysphonia, increased throat swelling sensation, nasal regurgitation of liquids, shoulder and hip pain, and loss of ability to jump while playing basketball. Re-examination revealed tenderness over anterior and lateral neck musculature, subcutaneous edema in both upper arms, normal arm strength (5/5), but reduced hip strength (4/5) and difficulty rising from seated position. Laboratory studies showed normal thyrotropin (0.708 mIU/L), elevated liver enzymes (ALT 298 U/L, AST 857 U/L), markedly elevated creatine kinase (33,950 U/L), mildly elevated inflammatory markers (ESR 16 mm/hr, CRP 24.1 mg/L), and positive antinuclear antibodies (1:160) with negative myositis-specific antibody panel including anti-Jo-1. Muscle biopsy from the left deltoid showed mild fiber size variability without perifascicular atrophy, inflammatory infiltrate around epimysial blood vessels, positive MHC class I staining with patchy distribution on nonnecrotic fibers.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/27144853/fig/1.jpg"], "caption": "Clinical photograph of the left periorbital region.", "detailed_caption": "Periorbital swelling and discoloration showing violaceous discoloration and swelling in the left periorbital region", "modalities": ["clinical"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/27144853/fig/2.jpg"], "caption": "(A) Transverse imaging of the head. (B) Coronal imaging of the neck.", "detailed_caption": "Transverse images of the head (Panel A) and coronal images of the neck (Panel B) reveal increased focal signaling that is consistent with edema in multiple muscles.", "modalities": ["general imaging"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/27144853/fig/3.jpg"], "caption": "Muscle biopsy, membrane-attack complex (MAC) staining.", "detailed_caption": "Muscle biopsy specimen shows membrane-attack complex (MAC) deposition on the endothelium of capillaries, resulting from complement cascade activation", "modalities": ["pathology"]}], "diagnosis": "Dermatomyositis", "standardized_diagnosis": [{"original_term": "Dermatomyositis", "corrected_term": null, "code": "4A41.0Z", "title": "Dermatomyositis", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": true}]}, "year": 2016, "classification": "Orthopedic and connective tissue disorders"}
+{"pmid": "27074070", "patient_info": {"basic_info": "A 12-year-old boy presented with a 1-month history of malaise, fevers, abdominal pain, and worsening pallor. His symptoms began with headache and abdominal pain, with an initial temperature of 38.6°C and pale skin. He experienced persistent upper abdominal pain and recurrent fevers. The patient reported nausea, occasional diarrhea, headache, myalgias, fatigue, and occasional dizziness. He described nearly constant periumbilical pain radiating to the left lower quadrant, with occasional blood in stools. His height was 132 cm (1st percentile), weight 26.8 kg (1st percentile), with recent 1 kg weight loss. Physical examination revealed pale skin and mucosa, distended abdomen with mild tenderness in right upper and left lower quadrants, and ecchymoses on the shins. He had visited the Dominican Republic 3 months prior. Laboratory tests showed severe microcytic anemia (hemoglobin 6.7 g/dL), elevated inflammatory markers (ESR >140 mm/hr, CRP 143.2 mg/liter), and elevated ferritin (320 μg/L).", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/27074070/fig/1.jpg"], "caption": "Abdominal radiograph.", "detailed_caption": "Abdominal radiograph showed moderate amount of fecal matter in the colon without dilated bowel loops, free air, or skeletal abnormality", "modalities": ["x-ray"]}, {"type": "fig", "id": 2, "subfig": "A", "path": ["images/27074070/fig/2.jpg"], "caption": "Ultrasound of the abdomen.", "detailed_caption": "Ultrasound revealed multiple enlarged retroperitoneal and mesenteric lymph nodes, thick-walled small-bowel loops, a 2-cm hypoechoic liver lesion, and mild right kidney hydronephrosis", "modalities": ["ultrasound"]}, {"type": "fig", "id": 2, "subfig": "B,C", "path": ["images/27074070/fig/3.jpg"], "caption": "(B) CT, coronal reformatted image, chest, abdomen, and pelvis. (C) CT, axial image, abdomen.", "detailed_caption": "A coronal reformatted CT image (Panel B) shows extensive lymphadenopathy in the chest, abdomen, and pelvis (arrowheads) and a hypodense lesion in the liver (arrow). An axial CT image (Panel C) shows retroperitoneal lymphadenopathy (arrows), thick‑walled small‑bowel loops (arrowheads), and a solitary right kidney. ", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": "D", "path": ["images/27074070/fig/4.jpg"], "caption": "PET-CT, chest, abdomen, and pelvis.", "detailed_caption": "PET-CT demonstrated extensive FDG-avid lymphadenopathy in chest, abdomen, and pelvis, with intense uptake in thick-walled small bowel loops and right liver", "modalities": ["pet/spect/nuclear", "ct"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/27074070/fig/5.jpg"], "caption": "(A,B) Lymph node biopsy, H&E staining, (B) higher magnification. (C) Immunohistochemical staining for CD30. (D) Immunohistochemical staining for CD15. (E) Immunohistochemical staining for PAX5. (F) In situ hybridization for Epstein–Barr virus–encoded RNA.", "detailed_caption": "Retroperitoneal Lymph Node–Biopsy Specimen. Hematoxylin and eosin staining of the lymph node–biopsy specimen (Panels A and B) shows that the tissue is replaced by a mixed cellular infiltrate containing eosinophils, lymphocytes, histiocytes, and scattered large cells (Panel A), which are seen better at higher magnification (Panel B, arrows). Immunohistochemical staining of the large cells shows strong staining for CD30 (Panel C), weak granular staining for CD15 (Panel D), and faint nuclear staining for PAX5 (Panel E); in situ hybridization with the use of Epstein–Barr virus–encoded RNA shows strong nuclear staining (Panel F). Admixed granulocytes show strong staining for CD15 (Panel D), and B lymphocytes show strong staining for PAX5 (Panel E).", "modalities": ["pathology"]}], "diagnosis": "Mixed-cellularity subtype of classic Hodgkin's lymphoma and Epstein-Barr virus infection", "standardized_diagnosis": [{"original_term": "Mixed-cellularity subtype of classic Hodgkin's lymphoma", "corrected_term": null, "code": "2B30.12", "title": "Mixed cellularity classical Hodgkin lymphoma", "chapter": "Neoplasms", "primary": true}, {"original_term": "Epstein-Barr virus infection", "corrected_term": null, "code": "1D81.0", "title": "Epstein-Barr virus infection NOS", "chapter": "Diseases of the immune system", "primary": false}]}, "year": 2016, "classification": "Neoplastic diseases"}
+{"pmid": "27332907", "patient_info": {"basic_info": "A 65-year-old Haitian man with end-stage renal disease requiring hemodialysis presented with a leg injury and diffuse pruritic rash. His medical history included hypertension, bicuspid aortic valve, ascending and aortic-root aneurysm, and a positive tuberculin skin test 13 years prior with negative chest radiograph. He had secondary syphilis 11 years ago treated with penicillin, and recent HTLV-1 positive testing. He experienced 12 kg unintentional weight loss over 2 years. On examination, he had wrinkling of axillary plaques present bilaterally. Multiple thin, brown macules and patches with collarette of scale were present on palms and some on soles. He had bilateral inguinal lymphadenopathy.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/27332907/tab/1.jpg"], "caption": "Laboratory results.", "detailed_caption": "Laboratory findings showed mild anemia (Hct 33.9%, Hb 10.8 g/dL), leukocytosis (13,800/mm3), elevated BUN (45 mg/dL) and creatinine (8.16 mg/dL), positive RPR at 1:1 dilution, positive treponemal antibody test, positive HTLV-1 antibody test, and elevated ferritin (1351 ng/mL)", "modalities": ["lab"]}, {"type": "fig", "id": 1, "subfig": null, "path": ["images/27332907/fig/2.jpg"], "caption": "(A) Clinical photograph of the neck, arms, wrists, and hands at initial evaluation. (B) Clinical photograph of the thighs, legs, and feet at initial evaluation. (C) Clinical photograph of the bilateral axillae at initial evaluation.", "detailed_caption": "On initial evaluation, the patient had diffuse large, brown papules that coalesced into polygonal plaques, and he had a powdery, thick scale on the neck, arms, wrists, and hands (Panel A), as well as on the thighs, legs, and feet (Panel B). The bilateral axillae had scaly gray‑to‑brown plaques overlying slack skin (Panel C). The photographs are courtesy of Dr. Daniel Sugai.", "modalities": ["clinical"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/27332907/fig/3.jpg"], "caption": "(A) Biopsy specimen of the right anterior forearm, superficial dermis and epidermis, no staining method or magnification specified. (B) Biopsy specimen of the right anterior forearm, no staining method or magnification specified.", "detailed_caption": "A 3‑mm biopsy specimen of a lesion on the right anterior forearm was obtained. Monomorphic clusters of atypical lymphoid cells involving the superficial dermis and epidermis (Pautrier’s microabscesses) are shown (Panel A). The cells are small to medium‑sized and have irregular nuclear contours, clumped chromatin, small nucleoli, and eosinophilic cytoplasm (Panel B).", "modalities": ["pathology"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/27332907/fig/4.jpg"], "caption": "(A) Immunohistochemical staining for CD3. (B) Immunohistochemical staining for CD4. (C) Immunohistochemical staining for CD30. (D) Immunohistochemical staining for CD8. (E) Immunohistochemical staining for CD2. (F) Immunohistochemical staining for CD25.", "detailed_caption": "The atypical lymphoid cells were positive for CD3 (Panel A) and CD4 (Panel B), negative for CD30 (Panel C) and CD8 (Panel D), faintly positive for CD2 (Panel E), and positive for CD25 (Panel F).", "modalities": ["pathology"]}], "diagnosis": "Adult T-cell leukemia-lymphoma", "standardized_diagnosis": [{"original_term": "Adult T-cell leukemia-lymphoma", "corrected_term": null, "code": "2A90.5", "title": "adult t cell leukaemia lymphoma", "chapter": "Neoplasms", "primary": true}]}, "year": 2016, "classification": "Neoplastic diseases"}
+{"pmid": "27427454", "patient_info": {"basic_info": "A 28-year-old woman of Jewish descent with a history of sickle β-thalassaemia disorder presented with a 2-week history of frank haematuria. She had been taking paracetamol daily for persistent headaches. On examination, she was pale and tachycardic with a palpable spleen. Laboratory findings showed hemoglobin of 60 g/L and creatinine of 97 μmol/L.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/27427454/fig/1.jpg"], "caption": "Intravenous urogram.", "detailed_caption": "Intravenous urogram revealed: laterally displaced distal ureters, pyelotubular reflux (backflow of contrast from renal calyces), displacement and compression of the left kidney inferiorly, coarsening of bone trabeculations throughout the pelvic girdle and spine, and gallstones. Additional findings included splenomegaly and uterine fibroids.", "modalities": ["general imaging"]}], "diagnosis": "Sickle β-thalassaemia with acute renal papillary necrosis secondary to chronic anemia and paracetamol use", "standardized_diagnosis": [{"original_term": "Sickle β-thalassaemia", "corrected_term": null, "code": "3A51.3", "title": "sickle-cell thalassaemia", "chapter": "Diseases of the blood or blood-forming organs", "primary": true}, {"original_term": "Acute renal papillary necrosis", "corrected_term": null, "code": "GB53", "title": "Acute renal papillary necrosis", "chapter": "Diseases of the genitourinary system", "primary": false}, {"original_term": "Chronic anemia", "corrected_term": null, "code": "3A9Z", "title": "chronic anaemia", "chapter": "Diseases of the blood or blood-forming organs", "primary": false}]}, "year": 2017, "classification": "Genetic and congenital disorders"}
+{"pmid": "27532834", "patient_info": {"basic_info": "A 33-year-old bisexual Brazilian man presented with a 4-month history of painful bowel movements and rectal bleeding. He had one bowel movement daily with bright red blood on toilet paper but not mixed in stool. He had no abdominal pain or weight loss. He reported a sexual encounter with a man approximately 6 weeks before initial presentation. Physical examination showed a tender external hemorrhoid initially, with vital signs normal. Tests were negative for hepatitis B surface antigen and antibodies to hepatitis B virus, hepatitis C virus, and HIV. At follow-up examination 10 weeks later, bleeding hemorrhoids were noted around the anal opening. In the surgery clinic, examination revealed large superficial anal fissures at the anterior and posterior midline anal verge with small-to-moderate distal sentinel skin tags. Digital rectal examination showed moderate tenderness. Anoscopy revealed fissures and small internal hemorrhoids. Flexible sigmoidoscopy showed mild-to-moderate mucosal inflammation of the distal 10 cm of rectum with edema and patchy erythema.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/27532834/fig/1.jpg"], "caption": "(A,B) Sigmoid colon biopsy, H&E staining. (C) Sigmoid colon biopsy, H&E staining. (D) Sigmoid colon biopsy, immunohistochemical staining.", "detailed_caption": "Biopsy specimens of sigmoid colon showed: (A,B) Colonic mucosa with surface erosion, separation of colonic crypts by lymphohistiocytic infiltrate, and lymphoid hyperplasia; (C) Regenerative colonic crypts with crypt-cell apoptosis, numerous histiocytes expanding the lamina propria, and acute inflammation; (D) Immunohistochemical stain revealed numerous spirochetes in the lamina propria", "modalities": ["pathology"]}], "diagnosis": "Syphilitic proctitis", "standardized_diagnosis": [{"original_term": "Syphilitic proctitis", "corrected_term": null, "code": "DB33.Z", "title": "proctitis NOS", "chapter": "Diseases of the digestive system", "primary": true}]}, "year": 2016, "classification": "Infectious and immunologic disorders"}
+{"pmid": "27380346", "patient_info": {"basic_info": "A 66-year-old man presented with a 2-day history of fevers, lethargy, polyarticular arthralgias, and a painful rash. His medical history included hypertension, poorly controlled type 2 diabetes, hypercholesterolemia, and biopsy-proven autoimmune hepatitis. He had started azathioprine 75 mg 10 days prior after normal thiopurine methyltransferase activity was confirmed. Other medications included aspirin, metformin, verapamil, and pravastatin. On examination, he had a temperature of 38°C, and bilaterally tender knees with a patellar tap. Laboratory findings showed WBC 10,500/μL (neutrophils 9900/μL [94%]), CRP 76 mg/L, ESR 69 mm/h, slightly elevated rheumatoid factor at 16 IU/mL, negative anti-CCP antibody, negative tests for double-stranded DNA, extractable nuclear antibodies, and anti-ASO. Renal function was normal, with no abnormalities in urinalysis. Chest radiograph was normal. Synovial fluid analysis showed noninflammatory picture with leukocyte count of 700 cells/L, with no bacteria or crystals seen.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/27380346/fig/1.jpg"], "caption": "(A) Clinical photograph of the lower extremity. (B) Clinical photograph of the upper extremity.", "detailed_caption": "Figure 1 presents clinical photographs showing tender erythematous papulonodular lesions on the extensor surfaces of the lower extremity (left image) and upper extremity (right image) of a patient, demonstrating the cutaneous manifestations observed at presentation; these are standard gross clinical images depicting the distribution and morphology of the skin lesions without magnification or specific staining.", "modalities": ["clinical"]}], "diagnosis": "Erythema nodosum", "standardized_diagnosis": [{"original_term": "Erythema nodosum", "corrected_term": null, "code": "EB31", "title": "Erythema nodosum", "chapter": "Diseases of the skin", "primary": true}]}, "year": 2016, "classification": "Dermatologic and mucosal diseases"}
+{"pmid": "27248622", "patient_info": {"basic_info": "A 24-year-old woman with no significant medical history presented to the emergency department with left leg pain. She had been training for a 5-km race when, 2 days before presentation, she experienced crampy pain in her left leg extending to the left lower abdomen and buttock, along with generalized leg swelling and exertional dyspnea. She denied fever, chest pain, dyspnea at rest, or antecedent trauma. Her vital signs showed pulse of 102 beats per minute with other vitals normal. Physical examination revealed pitting edema and erythema in the left leg from thigh to calf with increased warmth. Her medical history included oral contraceptive use since age 15, previous smoking history of 3 cigarettes per day (quit 2 years prior), and family history of DVT in her father after knee surgery. Laboratory results showed white blood cell count 12,000/mm3 with normal differential, hemoglobin 12.4 g/dL, platelet count 269,000/mm3, prothrombin time 11.4 seconds, INR 1.05, and partial-thromboplastin time 27.0 seconds. Levels of troponin T and N-terminal pro-BNP were normal.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/27248622/fig/1.jpg"], "caption": "CT angiography of the chest.", "detailed_caption": "CT angiography of the chest revealed multiple pulmonary emboli in the pulmonary arteries in the left lower lobe and right lower lobe, and a small wedge-shaped infarction at the left lung base", "modalities": ["ct", "angiography"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/27248622/fig/2.jpg"], "caption": "CT scan of the abdomen and pelvis.", "detailed_caption": "CT scan of abdomen and pelvis showed deep-vein thrombosis in the left common, external, and internal iliac veins extending into the common femoral vein", "modalities": ["ct"]}], "diagnosis": "May-Thurner syndrome (iliac vein compression syndrome) with associated deep vein thrombosis and pulmonary embolism", "standardized_diagnosis": [{"original_term": "May-Thurner syndrome", "corrected_term": null, "code": "DA90.0", "title": "THE - [tricho-hepato-enteric] syndrome", "chapter": "Diseases of the digestive system", "primary": true}, {"original_term": "Deep vein thrombosis", "corrected_term": null, "code": "BD71", "title": "Deep vein thrombosis", "chapter": "Diseases of the circulatory system", "primary": false}, {"original_term": "Pulmonary embolism", "corrected_term": null, "code": "BB00.Z", "title": "pulmonary embolism NOS", "chapter": "Diseases of the circulatory system", "primary": false}]}, "year": 2016, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "27181090", "patient_info": {"basic_info": "A 55-year-old Japanese woman with malignant melanoma was receiving nivolumab (2 mg/kg, once every 3 weeks) for 12 months when she was referred for hyperglycemia. She had no history of diabetes and no evidence of pancreatic metastases. Blood glucose levels had been normal until 3 weeks before referral. She had previously received 1 year of chemotherapy with dacarbazine, nimustine, cisplatin and tamoxifen before starting nivolumab. She had no blood examination findings or symptoms suggesting acute viral infection before onset. Physical examination revealed mild pancreatic atrophy on computed tomography and endoscopic ultrasonography showed hyperechoic foci and strands, lobularity, and cysts consistent with early chronic pancreatitis changes, though she had no history of alcohol use.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/27181090/tab/1.jpg"], "caption": "Laboratory results and time-series serum C-peptide levels (days 0, 2, 7, and 17).", "detailed_caption": "Laboratory results showed glucagon 134 pg/mL (normal 70-174), amylase 36 U/L (normal 37-125), elastase1 93 ng/dL (normal <300), lipase 31 IU/L (normal 11-53), thyroid-stimulating hormone receptor antibody <1.0 IU/L (normal <2.0), thyroglobulin antibody 10.9 IU/mL (normal <28), thyroid peroxidase antibody 5.9 IU/mL (normal <16), negative antipituitary antibody, negative antinuclear antibody. Time-series serum C-peptide levels (normal 0.61-2.09 ng/mL) showed progressive decline: Day 0: 1.0 ng/mL, Day 2: 0.7 ng/mL, Day 7: 0.3 ng/mL, Day 17: <0.1 ng/mL.", "modalities": ["lab"]}, {"type": "tab", "id": 2, "subfig": "Row: Case 1", "path": ["images/27181090/tab/2.jpg"], "caption": "Laboratory results (urine ketones, blood glucose, HbA1c, C-peptide, islet cell autoantibodies, HLA typing).", "detailed_caption": "Case 1 in Table 2 summarizes a 55-year-old Japanese female with malignant melanoma and pertinent history of dyslipidemia and gastric ulcer, who developed abrupt-onset ketonuria and marked hyperglycemia (580 mg/dL, HbA1c 7.0%, C-peptide 1.0 ng/dL with simultaneous glucose 580 mg/dL) 12 months after commencing nivolumab therapy (also receiving dacarbazine, nimustine, cisplatin, and tamoxifen without preceding viral infection); all islet cell autoantibodies (GAD, ICA, IA-2, ZnT8) were negative, and HLA typing revealed DRB1*04:05 and DQB1*04:01 alleles.", "modalities": ["lab", "genetic"]}], "diagnosis": "Fulminant type 1 diabetes mellitus", "standardized_diagnosis": [{"original_term": "Fulminant type 1 diabetes mellitus", "corrected_term": null, "code": "5A10", "title": "Fulminant type 1 diabetes mellitus", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": true}]}, "year": 2016, "classification": "Endocrine and metabolic disorders"}
+{"pmid": "27166389", "patient_info": {"basic_info": "A 65-year-old man presented to his general practitioner with a three-day history of bright red, painless macroscopic haematuria and was found to have acute kidney injury with a raised serum creatinine of 461 μmol/L (reference range 60-105) and estimated glomerular filtration rate of 11 mL/min/1.73 m². His baseline serum creatinine had been stable around 120 μmol/L for five years until one month earlier when he had an episode of acute kidney injury during hospitalization for cellulitis of the right leg, after which his serum creatinine had remained raised at 252 μmol/L. He denied recent respiratory infections, weight loss, night sweats, lethargy, or previous haematuria. His medical history included hypertension, type 2 diabetes, chronic kidney disease stage 3, coronary artery bypass grafting, atrial fibrillation, ischaemic stroke, benign prostatic hypertrophy, and tobacco use. His regular medications included digoxin 125 μg, atorvastatin 80 mg, tamsulosin 400 μg, metoprolol 95 mg, aspirin 100 mg, and warfarin, all once daily. On physical examination his blood pressure was 116/70 mm Hg and he had mild pedal oedema. Urine analysis showed gross haematuria and proteinuria with protein:creatinine ratio of 51.2 mg/mmol (reference <23). His international normalised ratio (INR) was markedly raised at 5.7.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/27166389/fig/1.jpg"], "caption": "(A) Kidney biopsy, light microscopy, Jones’s methenamine silver staining. (B) Kidney biopsy, light microscopy, trichrome staining. (C) Kidney biopsy, direct immunofluorescence for IgA. (D) Kidney biopsy, direct immunofluorescence for C3.", "detailed_caption": "Light microscopy of kidney biopsy stained with Jones’s methenamine silver (A) and trichrome (B). Direct immunofluorescence of kidney biopsy for IgA (C) and C3 (D)", "modalities": ["pathology"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/27166389/fig/2.jpg"], "caption": "Kidney biopsy, light microscopy, Trichrome stain.", "detailed_caption": "Light microscopy of kidney biopsy with Trichrome stain showing numerous red cell casts obstructing the tubular lumina and a glomerulus containing red blood cells in Bowman's space.", "modalities": ["pathology"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/27166389/fig/3.jpg"], "caption": "Kidney biopsy, light microscopy, silver stain.", "detailed_caption": "Light microscopy of kidney biopsy with silver stain showing a glomerulus with diffuse mesangial proliferation.", "modalities": ["pathology"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/27166389/fig/4.jpg"], "caption": "(A) Direct immunofluorescence of the kidney, 400× magnification, IgA staining, positivity 4+ on a semi-quantitative scale (0–5+). (B) Direct immunofluorescence of the kidney, 400× magnification, C3 staining, positivity 2–3+ on a semi-quantitative scale (0–5+).", "detailed_caption": "Direct immunofluorescence (original magnification ×400) showing (A) IgA positivity (4+) (on a semi-quantitative visual scale ranging from 0 to 5+) within the mesangium and along some capillary loops, and (B) C3 positivity (2-3+) mainly within the mesangium", "modalities": ["pathology"]}], "diagnosis": "Chronic IgA nephropathy with acute glomerular haematuria, probably precipitated by excessive anticoagulation with warfarin causing acute anticoagulant nephropathy", "standardized_diagnosis": [{"original_term": "Chronic IgA nephropathy", "corrected_term": null, "code": "MF8Y", "title": "IgA nephropathy", "chapter": "Diseases of the genitourinary system", "primary": true}, {"original_term": "Acute glomerular haematuria", "corrected_term": null, "code": "GB4Y", "title": "Recurrent or persistent glomerular haematuria", "chapter": "Diseases of the genitourinary system", "primary": false}, {"original_term": "Acute anticoagulant nephropathy", "corrected_term": null, "code": "GC2Z&XA6KU8", "title": "Nephropathy NOS", "chapter": "Diseases of the genitourinary system", "primary": false}]}, "year": 2016, "classification": "Gastrointestinal disorders"}
+{"pmid": "27628520", "patient_info": {"basic_info": "A 32-year-old woman presented with a 2-week history of back and loin pain, heaviness in thighs, intermittent fever and rigors. Her medical history included trigeminal neuralgia and pervasive anxiety, for which she had recently started quetiapine. On examination, her temperature was 39°C with no other abnormal physical findings. Initial blood tests showed elevated C-reactive protein (118 mg/L), with normal blood count and biochemical profile including liver and renal function. Further testing revealed elevated serum creatine kinase (30.51 μkat/L), decreased hemoglobin (93 g/L from initial 126 g/L), mild neutropenia (0.9 × 10⁹/L), thrombocytopenia (110 × 10⁹/L), markedly elevated and fluctuating serum ferritin (range: 494-45,301 pmol/L), and elevated lactate dehydrogenase (10.55 μkat/L). Blood cultures, urine cultures, throat swabs, and cerebrospinal fluid showed no microorganisms. Autoantibody screens were negative with unremarkable serum complement levels.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/27628520/fig/1.jpg"], "caption": "PET-CT, bone marrow at T10, sternum, and right anterior superior iliac spine.", "detailed_caption": "PET-CT showed widespread non-homogeneous increase in tracer uptake within bone marrow at T10 and sternum, and in the right anterior superior iliac spine. No abnormalities were found in muscles or organs including lymph nodes, liver, or spleen.", "modalities": ["pet/spect/nuclear", "ct"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/27628520/fig/2.jpg"], "caption": "Bone marrow biopsy, immunohistochemistry for CD3.", "detailed_caption": "Bone marrow biopsy showed extensive infiltration with high-grade tumor, with immunohistochemical expression of CD3 showing T-cell malignancy.", "modalities": ["pathology"]}], "diagnosis": "Peripheral T-cell non-Hodgkin lymphoma", "standardized_diagnosis": [{"original_term": "Peripheral T-cell non-Hodgkin lymphoma", "corrected_term": null, "code": "2A90.C", "title": "peripheral t-cell lymphoma unspecified", "chapter": "Neoplasms", "primary": true}]}, "year": 2016, "classification": "Neoplastic diseases"}
+{"pmid": "27745878", "patient_info": {"basic_info": "63-year-old man with 32-year history of reddish-brown skin lesions, which worsened over previous year. Presenting symptoms included daily abdominal pain, pruritus, flushing, joint pain, and fatigue. Physical examination showed brown patches covering >90% of body, sparing only soles and head. Laboratory findings showed serum tryptase of 70.5 μg/L (6x upper limit of normal). Skin biopsy showed multiple mast cells. Bone marrow aspirate and biopsy revealed spindle-shaped mast cells co-expressing CD2 and CD25 involving 10% of bone marrow biopsy cells, and presence of KIT D816V mutation specific for mastocytosis.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/27745878/fig/1.jpg"], "caption": "(A) Clinical photograph of the anterior body surface. (B) Clinical photograph of the posterior body surface. (C) Clinical photograph of the palms.", "detailed_caption": "Shows severe skin involvement with reddish-brown lesions affecting front (Subfig A) and back (Subfig B) of body, with sparing of palms (Subfig C)", "modalities": ["clinical"]}], "diagnosis": "Systemic mastocytosis with severe skin involvement", "standardized_diagnosis": [{"original_term": "Systemic mastocytosis", "corrected_term": null, "code": "2A21.0Z", "title": "Systemic mastocytosis", "chapter": "Neoplasms", "primary": true}, {"original_term": "Cutaneous mastocytosis", "corrected_term": null, "code": "2A21.1Z", "title": "Cutaneous mastocytosis", "chapter": "Neoplasms", "primary": false}]}, "year": 2017, "classification": "Dermatologic and mucosal diseases"}
+{"pmid": "27656661", "patient_info": {"basic_info": "A 60-year-old white Caucasian woman presented with a 4-year history of worsening gait and sensory disturbance accompanied by urinary urgency and nocturia. She reported slow deterioration in vision from age 50, though she could still drive. Her mother was registered blind and had Parkinson's disease with dementia. On examination, she had a spastic gait with normal power in lower limbs but increased tone and sustained ankle clonus. Reflexes were brisk with flexor plantar responses. She had mild reduction in visual acuity and dyschromatopsia, but no detectable visual field defect and preserved pupillary light reflexes. CSF analysis showed presence of oligoclonal bands. Routine hematological, biochemical and immunological blood tests were normal, including folate and vitamin B12. Anti-aquaporin 4 antibodies were negative in serum.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/27656661/fig/1.jpg"], "caption": "(A) Fundoscopic examination of both eyes. (B) Optical coherence tomography of both eyes, average peripapillary retinal nerve fiber layer thickness: right eye 63 μm, left eye 62 μm.", "detailed_caption": "Bilateral optic atrophy observed on fundoscopic examination (A). OCT showed average peripapillary retinal nerve fiber layer thickness of 63 μm in right eye and 62 μm in left eye (B)", "modalities": ["ophthalmic imaging"]}, {"type": "fig", "id": 2, "subfig": "A", "path": ["images/27656661/fig/2.jpg"], "caption": "MRI of the brain and cervical spinal cord, T2-weighted sequence.", "detailed_caption": "MRI revealed multiple foci of T2 hyperintensity in periventricular and pericallosal white matter regions, with discrete areas of signal abnormalities in cervical spinal cord. Findings met MRI diagnostic criteria for multiple sclerosis", "modalities": ["mri"]}], "diagnosis": "Multiple sclerosis-like disorder with OPA1 mutation (specifically, a novel heterozygous splice site mutation, c.2356-1G>T)", "standardized_diagnosis": [{"original_term": "Multiple sclerosis-like disorder", "corrected_term": null, "code": "8A44.1", "title": "Multiple sclerosis-like disorder", "chapter": "Diseases of the nervous system", "primary": true}, {"original_term": "OPA1 mutation", "corrected_term": null, "code": "5C58.00", "title": "CNS1 - [Crigler-Najjar syndrome type 1]", "chapter": "Diseases of the digestive system", "primary": false}]}, "year": 2016, "classification": "Neurological disorders"}
+{"pmid": "27705260", "patient_info": {"basic_info": "A previously well 57-year-old woman presented with a 1-week history of generalized aches, malaise, anorexia, and fevers (temperatures between 37.7°C and 38.3°C). She reported a cough and persistent pain in the right upper quadrant but had no nausea, vomiting, or diarrhea. She had a history of migraines and was taking only acetaminophen and naproxen. Her family history was notable for giant-cell arteritis in her mother and prostate and colon cancer in her father. She worked for a nonprofit organization, lived in New England, had not traveled recently, and had no pets. On physical examination, she was in no distress with blood pressure 120/70 mm Hg, pulse 72 beats per minute, and temperature 38.9°C. The remainder of the physical examination was normal with no abdominal tenderness. Initial laboratory tests showed hematocrit 38%, normal white-cell and platelet counts, normal other blood tests, and elevated ESR of 68 mm per hour (normal 0-18). Tests for antibodies to Lyme disease, babesia, and ehrlichia species were negative. One month later, she had lost approximately 2 kg, had temperature of 38.3°C, and mild right upper quadrant tenderness. Follow-up labs showed hematocrit 34%, normal white-cell and platelet counts, ESR 104 mm per hour, and negative blood cultures. Three months after onset, she had lost a total of 7 kg, blood pressure was 100/70 mm Hg with conjunctival pallor. Laboratory results showed hematocrit 27%, normal white-cell count, platelet count 455,000 per cubic millimeter, ESR greater than 120 mm per hour, alkaline phosphatase 354 U per liter (normal 35-130), alanine aminotransferase 71 U per liter (normal 7-52), aspartate aminotransferase 57 U per liter (normal 9-30), and ferritin 828 μg per liter (normal 10-170). Multiple infectious serologies were negative, antinuclear antibodies were less than 1:40, ANCAs and other autoantibodies were negative, and complement levels were normal. CT chest was normal, abdominal-pelvic CT showed enlarged heterogeneous uterus with ill-defined enhancement consistent with fibroids. Pelvic ultrasonography confirmed enlarged uterus consistent with fibroids and thickened endometrial stripe. Gynecologic examination revealed smooth, firm uterus consistent with uterine fibroid, and endometrial biopsy showed benign endometrial polyp. Indium-111-labeled leukocyte scintigraphy was normal. Liver biopsy showed normal parenchyma with no abnormalities, and temporal artery biopsy was negative. Physical examination showed no temporal-artery tenderness, synovitis, or proximal muscle weakness, and no rash or joint symptoms were present.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/27705260/fig/1.jpg"], "caption": "(A) FDG-PET of the uterus. (B) FDG-PET/CT of the uterus.", "detailed_caption": "18F­fluorodeoxyglucose–positron­emission tomography (FDG­PET) (Panel A) shows the FDG avidity of the uterine mass (arrow), and FDG­PET with computed tomography (CT) (Panel B) shows the uterine abnormality with a necrotic center, findings that are consistent with leiomyosarcoma", "modalities": ["ct", "pet/spect/nuclear"]}, {"type": "fig", "id": 2, "subfig": "A", "path": ["images/27705260/fig/2.jpg"], "caption": "Gross specimen of the uterus.", "detailed_caption": "Gross appearance shows a variegated and fleshy uterine mass measuring 9.5 cm in largest diameter that had subtotally replaced the anterior myometrium.", "modalities": ["pathology"]}], "diagnosis": "Dedifferentiated leiomyosarcoma", "standardized_diagnosis": [{"original_term": "Dedifferentiated leiomyosarcoma", "corrected_term": null, "code": "2B58.1&XS56", "title": "Leiomyosarcoma of uterus[Differentiated, NOS]", "chapter": "Neoplasms", "primary": true}]}, "year": 2016, "classification": "Neoplastic diseases"}
+{"pmid": "27410926", "patient_info": {"basic_info": "A 32-year-old incarcerated male presented after being found unresponsive in his jail cell. Two days prior, he had nausea and vomiting. He had a history of substance use disorder (alcohol, opiates, cocaine), traumatic brain injuries, seizures, anemia, and possible paranoid schizophrenia. Six years prior, he tested negative for HIV and HCV. Eight months before admission, he had been admitted for altered behavior with hyperammonemia and echogenic liver on ultrasound. On examination, he was unresponsive with grunting respirations. Vital signs showed temperature 36.9°C, pulse 112/min, blood pressure 170/119 mmHg. He had jaundiced skin, icteric sclerae, asymmetric pupillary responses, diffuse hypertonicity, extensor posturing of arms, myoclonic jerking of legs, and clonus. The abdomen was mildly distended. Initial blood glucose was <10 mg/dL.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/27410926/fig/1.jpg"], "caption": "Chest radiograph.", "detailed_caption": "Chest radiograph showed discoid atelectasis at the left lung base", "modalities": ["x-ray"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/27410926/fig/2.jpg"], "caption": "Abdominal ultrasound of the gallbladder.", "detailed_caption": "Abdominal ultrasound showed thick, hypoechoic gallbladder wall consistent with hepatitis", "modalities": ["ultrasound"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/27410926/fig/3.jpg"], "caption": "(A, B) Fluid-attenuated inversion recovery MRI, cortex and thalami. (C, D) Diffusion-weighted MRI, cortex and thalami. (E, F) Apparent diffusion coefficient MRI, cortex and thalami.", "detailed_caption": "Fluid‑attenuated inversion recovery images (Panels A and B) show swelling of the cortex and thalami with increased signal, findings consistent with edema. On diffusion‑weighted images (Panels C and D), the cortex and thalami have increased signal, and on apparent diffusion coefficient maps (Panels E and F), the cortex and thalami have decreased signal; these findings are consistent with decreased diffusion due to cytotoxic edema.", "modalities": ["mri"]}, {"type": "tab", "id": 1, "subfig": null, "path": ["images/27410926/tab/4.jpg"], "caption": "Laboratory test results.", "detailed_caption": "Laboratory tests showed elevated liver enzymes (AST 3944 U/L, ALT 3767 U/L), elevated total bilirubin (10.8 mg/dL), prolonged coagulation times (PT 110.8 sec, INR 11.6), elevated ammonia (306 μmol/L), and metabolic derangements", "modalities": ["lab"]}, {"type": "tab", "id": 2, "subfig": null, "path": ["images/27410926/tab/5.jpg"], "caption": "Serologic testing for hepatitis B virus.", "detailed_caption": "Serologic testing showed positive results for HBV surface antigen, HBV surface antibodies, total HBV core antibodies, HBV core IgM antibodies, and HBV DNA (39,200 IU/mL)", "modalities": ["lab"]}], "diagnosis": "Fulminant liver failure associated with hepatitis B virus infection", "standardized_diagnosis": [{"original_term": "Fulminant liver failure", "corrected_term": null, "code": "DB91.Z", "title": "fulminant hepatic failure", "chapter": "Diseases of the digestive system", "primary": true}, {"original_term": "Hepatitis B virus infection", "corrected_term": null, "code": "KA62.9", "title": "Congenital Hepatitis B virus infection", "chapter": "Certain conditions originating in the perinatal period", "primary": false}]}, "year": 2016, "classification": "Gastrointestinal disorders"}
+{"pmid": "27758785", "patient_info": {"basic_info": "16-year-old girl presented with left wrist deformity present since birth. She had progressively increasing pain in the left wrist with limited dorsiflexion. Physical examination revealed loss of grip strength, decreased extension, and supination. No other external congenital deformities were noted.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/27758785/fig/1.jpg"], "caption": "(A) Anteroposterior radiograph of the left wrist. (B) Lateral radiograph of the left wrist.", "detailed_caption": "Anteroposterior and lateral radiographs of left wrist showing Madelung deformity", "modalities": ["x-ray"]}], "diagnosis": "Madelung deformity", "standardized_diagnosis": [{"original_term": "Madelung deformity", "corrected_term": null, "code": "LB90.4", "title": "Madelung deformity", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": true}]}, "year": 2016, "classification": "Orthopedic and connective tissue disorders"}
+{"pmid": "27245170", "patient_info": {"basic_info": "A 45-year-old man presented to the haematology ward with fever, nausea, vomiting, diarrhea and severe prostration lasting several days. He had mantle cell lymphoma and was on day 45 post-allogeneic haematopoietic stem cell transplantation from a related donor. Physical examination revealed tachycardia, hypotension, high inflammatory markers, and marked dehydration. Laboratory tests showed acute renal insufficiency with symptoms of thrombotic thrombocytopenic purpura (TTP) and kidney damage from cyclosporine nephrotoxicity. High-resolution computed tomography (HR-CT) of the chest showed typical radiological signs of pulmonary mycosis. Galactomannan was detected in the patient's serum. Mycological cultures of BAL and sputum were negative, though oral mucous membrane cultures yielded Pichia kluyveri and Candida albicans.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/27245170/fig/1.jpg"], "caption": "Lung tissue. (H&E 40x)", "detailed_caption": "Lung tissue showing necrosis within Aspergillus spp. mycelium", "modalities": ["pathology"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/27245170/fig/2.jpg"], "caption": "Heart histopathological section, H&E staining, 40× magnification.", "detailed_caption": "Figure 2 depicts a histopathological section of the heart showing a spherical mycelium of Aspergillus spp. surrounded by cardiomyocytes, stained with haematoxylin and eosin at a magnification of ×40, as described in the figure caption and confirmed by the image on page 3.", "modalities": ["pathology"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/27245170/fig/3.jpg"], "caption": "Histopathological section of the heart, interventricular septum, H&E staining, 100× magnification, post-mortem autopsy sample.", "detailed_caption": "Figure 3 shows a histopathological section of the heart demonstrating Aspergillus spp. mycelium with branching hyphae and small mixed inflammatory infiltrations in the surrounding tissue, stained with hematoxylin and eosin at a magnification of ×100, with the anatomical site being the interventricular septum and the sample acquired post-mortem during autopsy.", "modalities": ["pathology"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/27245170/fig/4.jpg"], "caption": "Histological section of heart tissue.", "detailed_caption": "Heart tissue showing radial arrangement of Aspergillus spp. hyphae", "modalities": ["pathology"]}], "diagnosis": "Invasive aspergillosis involving both the heart septum and lungs in an allogeneic haematopoietic stem cell transplant recipient", "standardized_diagnosis": [{"original_term": "Invasive aspergillosis", "corrected_term": null, "code": "1F20.0Z", "title": "Invasive aspergillosis", "chapter": "Certain infectious or parasitic diseases", "primary": true}, {"original_term": "Heart septum aspergillosis", "corrected_term": null, "code": "1F20.0Y", "title": "Invasive cardiac aspergillosis", "chapter": "Certain infectious or parasitic diseases", "primary": false}, {"original_term": "Pulmonary aspergillosis", "corrected_term": null, "code": "1F20.12", "title": "Chronic pulmonary aspergillosis", "chapter": "Certain infectious or parasitic diseases", "primary": false}, {"original_term": "Allogeneic haematopoietic stem cell transplant recipient", "corrected_term": null, "code": "QB63.8", "title": "Presence of transplanted stem cell", "chapter": "Factors influencing health status or contact with health services", "primary": false}]}, "year": 2016, "classification": "Infectious and immunologic disorders"}
+{"pmid": "27709866", "patient_info": {"basic_info": "A 48-year-old woman presented with severe occipital headache. Two months prior, she had developed bilateral auricular swelling, scleral injection, and fever which had responded to oral glucocorticoid. The current headache started 3 days prior and was accompanied by nausea, vomiting, and neck stiffness. Cerebrospinal fluid examination showed WBC count of 71/mm3 (lymphocyte 58%, PMN 28%), total protein of 86.6 mg/dL, and glucose of 62.9 mg/dL. Stains and cultures for microorganisms were negative. Serologic tests including antinuclear antibody (ANA), antineutrophil cytoplasmic antibody (ANCA), and rheumatoid factor (RF) were all negative.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/27709866/fig/1.jpg"], "caption": "(A) Brain MRI, T2-weighted image, cerebellum. (B) Brain MRI, T2-weighted image, basal ganglia. (C) Brain MR angiography, left distal internal carotid artery, left proximal middle cerebral artery, and left anterior cerebral artery.", "detailed_caption": "Brain MRI and MR angiography. T2 weighted image showed edema of brain cortex and some high signals (arrows) in parenchyma of bilateral cerebellum (A) and basal ganglia (B). MR angiography showed near complete occlusion (arrow heads) of left distal internal carotid artery, left proximal middle cerebral artery, and left anterior cerebral artery (C).", "modalities": ["mri", "angiography"]}], "diagnosis": "Meningoencephalitis from Relapsing Polychondritis (RP)", "standardized_diagnosis": [{"original_term": "Relapsing polychondritis", "corrected_term": null, "code": "FB82.3", "title": "Relapsing polychondritis", "chapter": "Diseases of the respiratory system", "primary": true}, {"original_term": "Meningoencephalitis", "corrected_term": null, "code": "1D01.Z", "title": "meningoencephalitis NOS", "chapter": "Diseases of the nervous system", "primary": false}]}, "year": 2016, "classification": "Infectious and immunologic disorders"}
+{"pmid": "27485461", "patient_info": {"basic_info": "A 52-year-old perimenopausal Caucasian woman, gravida 3 para 3, presented with a 10-week history of vaginal bleeding, bloating, fatigue, weight gain (>7 kg), and hypogastric mass. She was admitted to the emergency room for epigastric pain and mild dyspnea, and had observed breast tenderness for the past 3 months. Her personal history included appendectomy, amiodarone-induced hypothyroidism, chronic atrial fibrillation, and breast abscess but no hypertension. Her last delivery was 23 years ago, she discontinued oral contraceptive pills at least 18 months prior, and her last menses occurred 4 months ago. Initial examination revealed a fundal height of 18 cm. When referred to the cancer center ten days later, she developed signs of early onset preeclampsia including new onset severe hypertension (170/100 mmHg), proteinuria, oliguria, headache, hyperreflexivity in lower limbs, and growing epigastric pain radiating to both hypochondria. Laboratory tests at the cancer center showed rapidly deteriorating results with hemolytic anemia (hemoglobin 97 g/L, haptoglobin <0.06 g/L), thrombocytopenia (75 G/L), elevated liver enzymes (ALT 120 IU/L, AST 252 IU/L), and severe proteinuria (1.85 g/24 h), presenting a complete form of HELLP syndrome. Her serum hCG level was initially 0.96 × 10⁶ IU/L, rising to 1.266 × 10⁶ IU/L.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/27485461/fig/1.jpg"], "caption": "(A) Contrast-enhanced CT of the abdominopelvic region, mid sagittal plane. (B) Contrast-enhanced CT of the abdominopelvic region, transverse plane. (C) Chest CT, axial view, lung window.", "detailed_caption": "Abdominopelvic contrast-enhanced CT scans showing an enlarged uterus with focal areas of hypoattenuation; (a) mid sagittal plane; (b) transverse plan. (c) Axial chest CT scan (lung window) showing at least one left pulmonary metastase", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/27485461/fig/2.jpg"], "caption": "(a) Photograph of the specimen with scale in centimeters. (b) Photograph of the specimen with longitudinal incision. (c) Micrograph of uterine tissue, hematoxylin and eosin staining, low magnification. (d) Micrograph of uterine tissue, hematoxylin and eosin staining, high magnification.", "detailed_caption": "(a) Photograph of the specimen with scale (cm); (b) Photograph of the specimen with longitudinal incision exposing vesicles; (c) Low magnification micrograph of the invasive complete hydatiform mole component (hematoxylin and eosin): two enlarged chorionic villi associated with a trophoblastic proliferation invading the vessels and the muscular wall of the uterus (bottom left); (d) high magnification micrograph of a suspected choriocarcinomatous component (hematoxylin and eosin): large syncitiotrophoblasts associated with a proliferation of atypical intermediate cytotrophoblasts", "modalities": ["pathology"]}], "diagnosis": "Complete and invasive hydatidiform mole with post-molar high-risk gestational trophoblastic neoplasia, FIGO stage/score III:7, complicated by early onset preeclampsia and HELLP syndrome", "standardized_diagnosis": [{"original_term": "Complete hydatidiform mole", "corrected_term": null, "code": "JA02.0", "title": "Complete hydatidiform mole", "chapter": "Pregnancy, childbirth or the puerperium", "primary": false}, {"original_term": "Invasive hydatidiform mole", "corrected_term": null, "code": "2F76&XA90F8", "title": "Invasive hydatidiform mole", "chapter": "Neoplasms", "primary": false}, {"original_term": "High-risk gestational trophoblastic neoplasia", "corrected_term": null, "code": "2F9Z", "title": "neoplasia", "chapter": "Neoplasms", "primary": true}, {"original_term": "Early onset preeclampsia", "corrected_term": null, "code": "JA24.Z", "title": "Pre-eclampsia", "chapter": "Pregnancy, childbirth or the puerperium", "primary": false}, {"original_term": "HELLP syndrome", "corrected_term": null, "code": "JA24.2", "title": "HELLP syndrome", "chapter": "Pregnancy, childbirth or the puerperium", "primary": false}]}, "year": 2016, "classification": "Neoplastic diseases"}
+{"pmid": "27834279", "patient_info": {"basic_info": "43-year-old woman presented to surgical assessment unit with increasing abdominal pain 36 hours after colonoscopy and polypectomy. Physical examination revealed tender and mildly distended abdomen.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/27834279/fig/1.jpg"], "caption": "CT scan of abdomen.", "detailed_caption": "CT scan of abdomen shows free air, with visible polypectomy clips in ascending colon. Air bubbles seen adjacent to clips, towards anterior intra-abdominal wall, anterior to aorta, posterior to transverse colon, and adjacent to splenic flexure. Free intraperitoneal air visible anterior to transverse colon.", "modalities": ["ct"]}], "diagnosis": "Perforated bowel following colonoscopy and polypectomy, with perforation likely at the site of polypectomy clips in ascending colon", "standardized_diagnosis": [{"original_term": "Perforated bowel", "corrected_term": null, "code": "ME24.31", "title": "bowel perforation NOS", "chapter": "Diseases of the digestive system", "primary": true}, {"original_term": "Colon polyp", "corrected_term": null, "code": "DB35.Z", "title": "Polyp of colon", "chapter": "Diseases of the digestive system", "primary": false}]}, "year": 2016, "classification": "Gastrointestinal disorders"}
+{"pmid": "27864214", "patient_info": {"basic_info": "A 53-year-old woman with a history of seropositive rheumatoid arthritis (RA) and stage IIIC, BRAFV600 mutant unresectable melanoma. She had multiple skin metastases in the left lower limb. After initial treatment with pembrolizumab, she presented with bilateral paresthesia in glove and stocking distribution that rapidly progressed to severe weakness in her lower limbs and diplopia (6th cranial nerve palsy). Electromiography and nerve conduction study showed a moderate sensory peripheral polyneuropathy.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/27864214/fig/1.jpg"], "caption": "(A) Muscle biopsy, esterase staining. (B) Sural nerve biopsy, low-power field.", "detailed_caption": "Figure 1 displays histopathological images from muscle and sural nerve biopsies: the left panel shows an angulated atrophic muscle cell positive for esterase stain (indicated by arrows), while the right panel demonstrates a low-power field of sural nerve with mononuclear inflammatory infiltrate surrounding two endoneural small vessels, consistent with vasculitis.", "modalities": ["pathology"]}], "diagnosis": "Peripheral neuropathy due to histologically induced by pembrolizumab", "standardized_diagnosis": [{"original_term": "Peripheral neuropathy", "corrected_term": null, "code": "8C0Z", "title": "peripheral neuropathy NOS", "chapter": "Diseases of the nervous system", "primary": true}]}, "year": 2017, "classification": "Neurological disorders"}
+{"pmid": "27755618", "patient_info": {"basic_info": "A 62-year-old woman presented with a 6-month history of hair thinning, itchy scalp, and cold sensitivity. She denied fatigue, depression, memory problems, dry skin, or constipation. Her medical history included hyperlipidemia, for which she took fish oil and red yeast rice extract. Physical examination revealed a heart rate of 80/min, body mass index of 31, thyroid gland of normal size and consistency without palpable nodules, and normal deep tendon reflexes.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/27755618/tab/1.jpg"], "caption": "Laboratory results.", "detailed_caption": "Laboratory values showed: TSH 4.88 mIU/L (ref: 0.4-4.5), total cholesterol 257 mg/dL (ref: 125-200), triglycerides 59 mg/dL (ref: <150), HDL 90 mg/dL (ref: ≥46), and LDL 155 mg/dL (ref: <130)", "modalities": ["lab"]}], "diagnosis": "Subclinical hypothyroidism", "standardized_diagnosis": [{"original_term": "Subclinical hypothyroidism", "corrected_term": null, "code": "5A00.Z", "title": "Subclinical hypothyroidism", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": true}]}, "year": 2016, "classification": "Endocrine and metabolic disorders"}
+{"pmid": "27806242", "patient_info": {"basic_info": "A 51-year-old male surgeon presente progressive hand infection following a laceration to his left ring finger near the volar distal interphalangeal joint from a fillet knife while cleaning fish in coastal New England seawaters. The injury occurred during late summer, and 12 hours later he developed throbbing pain that progressively worsened. He had been well prior to this injury and was receiving adalimumab every other week for psoriatic arthritis, with his last dose administered 6 days before presentation. On examination at the Hand Clinic, he was alert but in moderate distress with a temperature of 38.1°C (100.5°F). There was exquisite tenderness over the entire flexor tendon sheath extending proximal to the metacarpophalangeal joint, and both active and passive motions were painful and markedly limited. No angular or rotational deformity was present, but capillary refill was less than 1 second with distal dysesthesias. All four Kanavel signs for infectious flexor tenosynovitis were present. His temperature subsequently rose to 38.5°C (101.3°F) with development of rigors, sinus tachycardia, progressive lethargy, lack of focus and alertness. Laboratory studies showed a white-cell count of 15.6 × 10^9 per liter (compared to 7.2 × 10^9 per liter six weeks previously) with 91% polymorphonuclear leukocytes, while hematocrit, chemical values, and coagulation studies were normal.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/27806242/fig/1.jpg"], "caption": "(A) Clinical photograph of the left ring finger, volar view. (B) Clinical photograph of the left ring finger, lateral view from the ulnar side.", "detailed_caption": "Shows circumferential swelling of the left ring finger with tracking erythema extending to the metacarpophalangeal joint, with Panel A showing the volar view and Panel B the lateral view from the ulnar side, displaying the original traumatic puncture wounds", "modalities": ["clinical"]}], "diagnosis": "Vibrio vulnificus infectious flexor tenosynovitis", "standardized_diagnosis": [{"original_term": "Infectious flexor tenosynovitis", "corrected_term": null, "code": "FB40.0", "title": "Infectious tenosynovitis", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": true}]}, "year": 2016, "classification": "Infectious and immunologic disorders"}
+{"pmid": "27154278", "patient_info": {"basic_info": "A 60-year-old woman presented to healthcare with acute left-sided pleuritic chest pain and dyspnoea without sputum production. She had been experiencing malaise, intermittent fever, and rigors for four weeks. She had a known patent ductus arteriosus (PDA) that was identified 10 years earlier after a murmur was detected during routine medical examination and confirmed by transthoracic echocardiography with no other signs of haemodynamic importance. On presentation, she had a fever of 39.0°C with left-sided pleural rub. Precordial examination identified a continuous 'machinery' murmur. She also had a purpuric rash. Electrocardiographic findings were within normal limits. Laboratory investigations confirmed normocytic anaemia, leucocytosis, and preserved renal function. Group B streptococcus was isolated from all three separate blood cultures.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/27154278/fig/1.jpg"], "caption": "Chest X-ray at the time of clinical presentation.", "detailed_caption": "Figure 1 on page 1 is a chest radiograph (plain X-ray) taken at the time of clinical presentation, demonstrating a peripheral wedge-shaped opacity in the left mid zone of the lung, corresponding anatomically to the area associated with the patient’s pleural rub; this radiographic finding, known as Hampton’s hump, is a classical sign indicative of pulmonary infarction secondary to embolism, as described in both the figure legend and the associated body text.", "modalities": ["x-ray", "clinical"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/27154278/fig/2.jpg"], "caption": "Chest radiograph.", "detailed_caption": "Chest radiograph shows a peripheral wedge-shaped opacity in the left mid zone (Hampton's hump)", "modalities": ["x-ray"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/27154278/fig/3.jpg"], "caption": "CT pulmonary angiogram, coronal view.", "detailed_caption": "Coronal computed tomographic pulmonary angiogram shows septic pulmonary emboli with filling defect within a branch of the left pulmonary artery, distal lung infarction, and the calcified patent ductus arteriosus between the distal aortic arch and the roof of the pulmonary artery", "modalities": ["ct", "angiography"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/27154278/fig/4.jpg"], "caption": "Parasternal short axis transthoracic echocardiogram at the level of the pulmonary valve.", "detailed_caption": "Parasternal short axis transthoracic echocardiogram at the level of the pulmonary valve shows the vegetation within the main pulmonary artery beside the ascending aorta", "modalities": ["ultrasound"]}], "diagnosis": "Patent ductus arteriosus associated streptococcal endocarditis and endarteritis with septic pulmonary emboli", "standardized_diagnosis": [{"original_term": "Patent ductus arteriosus", "corrected_term": null, "code": "LA8B.4", "title": "patent ductus arteriosus NOS", "chapter": "Developmental anomalies", "primary": false}, {"original_term": "Streptococcal endocarditis", "corrected_term": null, "code": "BB40&XN3NM", "title": "Streptococcal endocarditis", "chapter": "Diseases of the circulatory system", "primary": true}, {"original_term": "Streptococcal endarteritis", "corrected_term": null, "code": "BA8Y", "title": "coronary endarteritis", "chapter": "Diseases of the circulatory system", "primary": false}, {"original_term": "Septic pulmonary embolism", "corrected_term": null, "code": "BB00.Z", "title": "pulmonary embolism NOS", "chapter": "Diseases of the circulatory system", "primary": false}]}, "year": 2016, "classification": "Infectious and immunologic disorders"}
+{"pmid": "27514369", "patient_info": {"basic_info": "A previously healthy 50-year-old man presented with acute-onset dysarthria and was found to be febrile with respiratory distress and lethargy. He performed poorly in the right hand alternating movement test. Physical examination revealed a blood pressure of 130/90 mmHg and heart rate of 116 beats per minute. The apex beat was located in the sixth intercostal space, 1.5 cm outside the midclavicular line. Cardiac auscultation revealed a grade 4/6 systolic murmur that was most prominent at the apex. Laboratory findings showed normal troponin T, creatine kinase (CK), and CK-myoglobin (CK-MB) levels, but elevated N-terminal-pro-brain natriuretic peptide (NT-pro-BNP) levels at 3277 pg/ml. The leukocyte count was 10,620/mm³ with neutrophils at 10,350/mm³, and the erythrocyte sedimentation rate was 68 mm/h. Blood culture was positive for group A β-hemolytic streptococcus. Electrocardiography revealed sinus tachycardia without evidence of ischemia.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/27514369/fig/1.jpg"], "caption": "Cranial MRI, T2-weighted sequence.", "detailed_caption": "Cranial T2-magnetic resonance image showing high signal intensity in the left hemisphere, indicating cerebral infarction", "modalities": ["mri"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/27514369/fig/2.jpg"], "caption": "Echocardiography of the heart.", "detailed_caption": "Echocardiograph clearly shows a sizeable vegetation on the mitral valve measuring 40 × 30 mm", "modalities": ["ultrasound"]}, {"type": "fig", "id": 1, "subfig": "C", "path": ["images/27514369/fig/3.jpg"], "caption": "Abdominal ultrasound of the spleen.", "detailed_caption": "Abdominal ultrasound showing multiple echo-free areas in the spleen, indicating liquefactive necrosis and abscess formation", "modalities": ["ultrasound"]}, {"type": "fig", "id": 1, "subfig": "D", "path": ["images/27514369/fig/4.jpg"], "caption": "Color Doppler echocardiography of the heart.", "detailed_caption": "Color Doppler showing severe mitral regurgitation", "modalities": ["ultrasound"]}], "diagnosis": "Left-sided native valve infective endocarditis with multiple systemic embolism underlying Barlow's disease (mucoid degeneration and mitral valve prolapse)", "standardized_diagnosis": [{"original_term": "Barlow's disease", "corrected_term": null, "code": "BB62.Z", "title": "Barlow syndrome", "chapter": "Diseases of the circulatory system", "primary": false}, {"original_term": "Mitral valve prolapse", "corrected_term": null, "code": "BB62.Z", "title": "Mitral valve prolapse", "chapter": "Diseases of the circulatory system", "primary": false}, {"original_term": "Native valve infective endocarditis", "corrected_term": null, "code": "BB40", "title": "infective endocarditis NOS", "chapter": "Diseases of the circulatory system", "primary": true}, {"original_term": "Systemic embolism", "corrected_term": null, "code": "NF0A.1", "title": "systemic fat embolism", "chapter": "Injury, poisoning or certain other consequences of external causes", "primary": false}]}, "year": 2016, "classification": "Infectious and immunologic disorders"}
+{"pmid": "27834267", "patient_info": {"basic_info": "66-year-old man who fell down 14 steps. Unable to weight bear due to ankle pain. Physical examination showed swollen and deformed foot.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/27834267/fig/1.jpg"], "caption": "Lateral radiograph of the left ankle.", "detailed_caption": "Lateral radiograph of left ankle showed no ankle fracture but appeared abnormal", "modalities": ["x-ray"]}], "diagnosis": "Fracture dislocation of the talus with disruption of the subtalar and talonavicular joints", "standardized_diagnosis": [{"original_term": "Fracture dislocation of the talus", "corrected_term": null, "code": "ND13.Z&XA1LF4", "title": "foot fracture dislocation[Talus]", "chapter": "Injury, poisoning or certain other consequences of external causes", "primary": true}, {"original_term": "Disruption of subtalar joint", "corrected_term": null, "code": "FA36.Z&XA7SZ8", "title": "joint fluid[Subtalar joint]", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": false}, {"original_term": "Disruption of talonavicular joint", "corrected_term": null, "code": "MB23.8", "title": "Disruptive behaviour", "chapter": "Symptoms, signs or clinical findings, not elsewhere classified", "primary": false}]}, "year": 2016, "classification": "Orthopedic and connective tissue disorders"}
+{"pmid": "27687312", "patient_info": {"basic_info": "60-year-old male with family history suggestive of hereditary cancer. Genetic testing revealed a deleterious germline BRCA2 mutation, which was later confirmed in the primary tumor by targeted next generation sequencing. Next generation sequencing of the primary tumor also revealed a pathogenic somatic mutation in the AKT1 gene (E17K; allele frequency 25.6%).", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/27687312/fig/1.jpg"], "caption": "Timeline graph of pre-treatment PSA values, June 2013.", "detailed_caption": "Pre-treatment PSA values shown in timeline graph indicating initial disease presentation in June 2013", "modalities": ["lab"]}, {"type": "fig", "id": 1, "subfig": "B,C", "path": ["images/27687312/fig/2.jpg"], "caption": "(B) Coronal and sagittal CT images of the axial skeleton, performed before initiation of olaparib therapy. (C) Coronal and sagittal CT images of the axial skeleton, performed after 12 weeks of olaparib therapy, bone window settings.", "detailed_caption": "B: Coronal (left) and sagittal (right) computed tomography (CT) images of the axial skeleton acquired before initiation of olaparib therapy demonstrate sclerotic bone metastases. C: Coronal (left) and sagittal (right) CT images of the axial skeleton obtained after 12 weeks of olaparib treatment using bone window settings reveal a marked increase in sclerotic bone metastases, with nearly complete involvement of the entire axial skeleton on follow-up.", "modalities": ["ct"]}, {"type": "fig", "id": 1, "subfig": "E", "path": ["images/27687312/fig/3.jpg"], "caption": "68Ga-PSMA PET/CT scan.", "detailed_caption": "Initial 68Ga-PSMA PET/CT scan showed PSMA-positive lymph node metastasis", "modalities": ["pet/spect/nuclear", "ct"]}], "diagnosis": "Primary metastatic prostate cancer with skeletal involvement and germline BRCA2 mutation", "standardized_diagnosis": [{"original_term": "Prostate cancer", "corrected_term": null, "code": "2C82.Z", "title": "Malignant neoplasms of prostate", "chapter": "Neoplasms", "primary": false}, {"original_term": "Metastatic prostate cancer", "corrected_term": null, "code": "2C82.Z", "title": "Metastatic prostate cancer [primary prostate cancer spreading elsewhere]", "chapter": "Neoplasms", "primary": true}, {"original_term": "Bone metastasis", "corrected_term": null, "code": "2E03", "title": "bone metastasis", "chapter": "Neoplasms", "primary": false}, {"original_term": "Germline BRCA2 mutation", "corrected_term": null, "code": "GB90.4A", "title": "AQP2 mutation", "chapter": "Diseases of the genitourinary system", "primary": false}]}, "year": 2017, "classification": "Neoplastic diseases"}
+{"pmid": "27624380", "patient_info": {"basic_info": "15-year-old boy presented with a painless palpable lump in his right upper arm. The patient reported having the lump for 'many years' but was now conscious about it.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/27624380/fig/1.jpg"], "caption": "Anteroposterior radiograph of the right upper arm.", "detailed_caption": "Anteroposterior radiograph of right upper arm showed multiple bony lesions", "modalities": ["x-ray"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/27624380/fig/2.jpg"], "caption": "Anteroposterior radiograph of the right upper arm.", "detailed_caption": "Anteroposterior radiograph of right upper arm demonstrated osteochondromas that were both sessile and pedunculated, growing in the metaphyseal region projecting away from the epiphysis", "modalities": ["x-ray"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/27624380/fig/3.jpg"], "caption": "Lateral radiograph of the left femur.", "detailed_caption": "Lateral radiograph of left femur showing additional lesions", "modalities": ["x-ray"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/27624380/fig/4.jpg"], "caption": "Anteroposterior radiograph of the left femur.", "detailed_caption": "Figure 4 is an anteroposterior radiograph of the left femur, as shown on page 3. The image demonstrates multiple bony outgrowths arising from the metaphyseal regions of the femur, consistent with osteochondromas seen in hereditary multiple exostoses.", "modalities": ["x-ray"]}, {"type": "fig", "id": 5, "subfig": null, "path": ["images/27624380/fig/5.jpg"], "caption": "Chest radiograph, posteroanterior view.", "detailed_caption": "Posteroanterior radiograph of chest showing osteochondromas growing in flat bones such as ribs", "modalities": ["x-ray"]}], "diagnosis": "Hereditary multiple exostoses (also known as diaphyseal aclasis)", "standardized_diagnosis": [{"original_term": "Hereditary multiple exostoses", "corrected_term": null, "code": "LD24.20", "title": "Multiple congenital exostoses", "chapter": "Developmental anomalies", "primary": true}]}, "year": 2016, "classification": "Orthopedic and connective tissue disorders"}
+{"pmid": "27760736", "patient_info": {"basic_info": "A 76-year-old woman with a 20-pack-year history of smoking presented to the hospital with back pain. Pleural disseminations were resected using video-assisted thoracic surgery for diagnostic purposes, and molecular analysis identified an epidermal growth factor receptor (EGFR) mutation in exon 21 (L858R) using ScorpionARMS analysis. Immunohistochemistry showed that the tumor expressed TTF-1 but did not express NCAM, synaptophysin, or CD56.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/27760736/fig/1.jpg"], "caption": "CT of the chest performed before gefitinib therapy.", "detailed_caption": "CT before gefitinib therapy shows a primary lesion in the left upper lobe with pleural disseminations.", "modalities": ["ct"]}, {"type": "fig", "id": 1, "subfig": "E", "path": ["images/27760736/fig/2.jpg"], "caption": "Pleural histology, H&E staining, 400× magnification.", "detailed_caption": "Histologic features of pleural dissemination obtained before treatment show adenocarcinoma (hematoxylin and eosin stain, magnification ×400).", "modalities": ["pathology"]}, {"type": "fig", "id": 1, "subfig": "F", "path": ["images/27760736/fig/3.jpg"], "caption": "PD-L1 immunohistochemical staining, 400× magnification, PD-L1 expression in 30% of tumor cells.", "detailed_caption": "PD-L1 immunohistochemical staining shows expression in 30% of tumor cells (magnification ×400).", "modalities": ["pathology"]}], "diagnosis": "Adenocarcinoma of the lung with EGFR mutation in exon 21 (L858R)", "standardized_diagnosis": [{"original_term": "Adenocarcinoma of the lung", "corrected_term": null, "code": "2C25.0", "title": "lung adenocarcinoma", "chapter": "Diseases of the respiratory system", "primary": true}]}, "year": 2016, "classification": "Neoplastic diseases"}
+{"pmid": "27959982", "patient_info": {"basic_info": "A 28-year-old man initially presented with abdominal pain and diarrhea consisting of 10-12 Bristol type 7 (watery) stools per day after completing a course of azithromycin for pneumonia. Six weeks later, after successful treatment and return to baseline bowel patterns, he presented again with abdominal discomfort for 3 weeks that was relieved by bowel movements and associated with increased stool frequency of 4-5 Bristol type 4 stools per day. At the second presentation, his vital signs and physical examination were unremarkable.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/27959982/tab/1.jpg"], "caption": "Laboratory studies at initial presentation.", "detailed_caption": "Laboratory studies at initial presentation showed a positive Clostridium difficile polymerase chain reaction, white blood cell count 7.1 × 10³/μL (reference 3.5-10.5), hemoglobin 15.0 g/dL (reference 13.5-17.5 for men), hematocrit 43.7% (reference 38.8-50.0), mean corpuscular volume 82.8 μm³ (reference 81.2-95.1), platelets 252 × 10³/μL (reference 150-450), and albumin 4.5 g/dL (reference 3.5-5.0). All values except the C. difficile PCR were within normal ranges.", "modalities": ["lab"]}], "diagnosis": "Postinfectious altered bowel habits with C difficile colonization", "standardized_diagnosis": [{"original_term": "Postinfectious altered bowel habits", "corrected_term": null, "code": "ME05.Z", "title": "altered bowel habit", "chapter": "Symptoms, signs or clinical findings, not elsewhere classified", "primary": true}, {"original_term": "Clostridioides difficile colonization", "corrected_term": null, "code": "1A04", "title": "Intestinal infections due to Clostridioides difficile", "chapter": "Certain infectious or parasitic diseases", "primary": false}]}, "year": 2016, "classification": "Gastrointestinal disorders"}
+{"pmid": "27372395", "patient_info": {"basic_info": "A male newborn born at 36 weeks' gestation who died 20 hours after birth. His 26-year-old mother developed fever and rash during the first trimester of pregnancy, with no laboratory studies performed and no reported drug or chemical exposures. Ultrasonography in the second trimester revealed genital malformations. At birth, the infant presented with genital malformations. Autopsy findings showed bodyweight of 2740 g, length of 41 cm, head circumference of 29 cm, thoracic circumference of 34 cm, and abdominal circumference of 31 cm. External examination revealed subcutaneous edema, craniofacial malformations including hypertelorism, severe arthrogryposis, craniosynostosis, and cryptorchidism. CNS examination showed lissencephaly, alobar holoprosencephaly, and cerebellar hypoplasia. Chest examination revealed bilateral pulmonary hypoplasia confirmed by radial alveolar counts. Histopathological changes were restricted to the brain and included parenchymal calcification, microglial nodules, gliosis, neuronal and glial cell degeneration, and necrosis.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A, B", "path": ["images/27372395/fig/1.jpg"], "caption": "(A) Clinical photograph at autopsy. (B) Clinical photograph.", "detailed_caption": "A: Gross clinical photograph of case 1, a newborn at autopsy, showing craniofacial malformations, including microcephaly, flat nasal bridge, anteverted nares, and additional features of fetal akinesia deformation sequence, such as upper and lower limb contractures and valgus deformities. B: Clinical photograph of the same case highlighting limb contractures and morphological limb abnormalities, consistent with severe arthrogryposis.", "modalities": ["clinical"]}], "diagnosis": "Congenital Zika syndrome with microcephaly, lissencephaly, alobar holoprosencephaly, cerebellar hypoplasia, severe arthrogryposis, and multiple congenital malformations", "standardized_diagnosis": [{"original_term": "Congenital Zika syndrome", "corrected_term": null, "code": "1D48", "title": "Zika virus disease", "chapter": "Certain infectious or parasitic diseases", "primary": true}]}, "year": 2016, "classification": "Infectious and immunologic disorders"}
+{"pmid": "28017401", "patient_info": {"basic_info": "A 32-year-old man with a 14-year history of ulcerative colitis presented with a 2-month history of a purulent paronychial lesion of his right big toe. He had previously been diagnosed with bacterial paronychia (Pseudomonas aeruginosa and Enterobacter cloacae). The patient developed vegetative lesions in the groin and tender erosions of the hard palate, along with worsening diarrhea and abdominal cramping, complicated by Clostridium difficile. Physical examination revealed vegetating plaques over inner thighs, scrotum, and perineum, corrugated plaques bilaterally over the dorsal hard palate, shallow erosions on the nares and lower lip. Biopsy samples from oral mucosa, toe, and groin showed dense eosinophilic spongiotic infiltrate, and the patient had peripheral eosinophilia. Direct immunofluorescence studies showed no significant immunoglobulin, complement, or fibrinogen deposition.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/28017401/fig/1.jpg"], "caption": "Clinical photograph of the right hallux.", "detailed_caption": "Shows mildly tender, ulcerating, and macerated lesion on the right hallux", "modalities": ["clinical"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/28017401/fig/2.jpg"], "caption": "Clinical photograph of the oral cavity.", "detailed_caption": "B: The image presents an intraoral clinical photograph depicting asymptomatic pustular lesions arranged in a characteristic snail-track pattern along the gingiva within the oral mucosa, consistent with pyodermatitis-pyostomatitis vegetans; the modality is gross clinical photography, focusing on the oral cavity at the time of diagnosis.", "modalities": ["clinical"]}], "diagnosis": "Pyodermatitis-pyostomatitis vegetans", "standardized_diagnosis": [{"original_term": "Pyodermatitis vegetans", "corrected_term": null, "code": "EL3Y", "title": "Pyodermatitis vegetans", "chapter": "Diseases of the skin", "primary": true}, {"original_term": "Pyostomatitis vegetans", "corrected_term": null, "code": "EL3Y", "title": "Pyostomatitis vegetans", "chapter": "Diseases of the skin", "primary": false}]}, "year": 2017, "classification": "Dermatologic and mucosal diseases"}
+{"pmid": "27959755", "patient_info": {"basic_info": "A male infant born at term to nonconsanguineous, healthy parents with no known family history of immune deficiency presented with profound T-cell lymphopenia detected through newborn screening which revealed no detectable TRECs at 20 days of age. Physical examination revealed neonatal teeth, hypotonia, umbilical hernia, and erythematous psoriaform dermatitis. Imaging studies revealed wormian skull bones, mild pulmonary artery stenosis, and absence of corpus callosum. The patient showed no evidence of maternal engraftment.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/27959755/tab/1.jpg"], "caption": "Laboratory immunologic analysis.", "detailed_caption": "Complete immunologic findings showing TRECs 0 per microliter (normal >25), CD3+ T-cell count 182 cells/μl (normal 2250-5500), CD4+ helper T-cell count 130 cells/μl (normal >1600), CD8+ cytotoxic T-cell count 26 cells/μl (normal >560), CD19+ B-cell count 1326 cells/μl (normal 300-2000), CD16+/CD56+ NK cell count 468 cells/μl (normal 170-1100), undetectable CD3+/CD4+/CD45RA+ naive cells (normal >50%), and lymphocyte proliferation to PHA 18% (normal >50%)", "modalities": ["lab"]}, {"type": "fig", "id": 1, "subfig": "A", "path": ["images/27959755/fig/2.jpg"], "caption": "Clinical photographs of the face.", "detailed_caption": "Clinical photographs showing increased intraorbital distance, short palpebral fissures, abnormal nasal creases, micrognathia, ear tag, loose skin folds, and hirsutism", "modalities": ["clinical"]}], "diagnosis": "Severe combined immunodeficiency (SCID) with multisystem anomalies caused by a heterozygous de novo missense mutation p.N441K in BCL11B", "standardized_diagnosis": [{"original_term": "Severe combined immunodeficiency", "corrected_term": null, "code": "4A01.10", "title": "Severe combined immunodeficiencies", "chapter": "Diseases of the immune system", "primary": true}, {"original_term": "Multisystem anomalies", "corrected_term": null, "code": "MG4A", "title": "multi system failure", "chapter": "Symptoms, signs or clinical findings, not elsewhere classified", "primary": false}]}, "year": 2016, "classification": "Infectious and immunologic disorders"}
+{"pmid": "27579639", "patient_info": {"basic_info": "A 65-year-old woman with HIV infection, hypertension, and hyperlipidemia presented with a 1-week history of cough productive of pink sputum and mild shortness of breath on exertion. She developed slurred speech, difficulty swallowing, headache, and gait imbalance 4 days prior to presentation. Her HIV was diagnosed 17 years ago with a nadir CD4+ count of 21 cells/mm3. Recent CD4+ count was 198 cells/mm3. She was a current smoker with 25-pack-year history. On examination, vital signs were normal. She had decreased breath sounds, dullness to percussion, and increased tactile fremitus in the lower right hemithorax. Neurologic exam showed tongue deviation to the left without fasciculations or atrophy, slowed speech with decreased prosodic variation, and unsteady gait on tandem toe walking. Laboratory results showed CD4+ count of 265 cells/mm copies/mL, and normal basic labs. CSF analysis showed elevated protein (94 mg/dL), lymphocytic pleocytosis, positive EBV PCR.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/27579639/fig/1.jpg"], "caption": "(A) Chest radiograph, posteroanterior view. (B) Chest radiograph, lateral view.", "detailed_caption": "Posteroanterior (Panel A) and lateral (Panel B) chest radiographs show a well-defined homogeneous opacity in the right lower lobe.", "modalities": ["x-ray"]}, {"type": "fig", "id": 2, "subfig": "A", "path": ["images/27579639/fig/2.jpg"], "caption": "CT of the chest.", "detailed_caption": "CT chest showed consolidation within right lower lobe", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": "B", "path": ["images/27579639/fig/3.jpg"], "caption": "PET of the chest, 18F-fluorodeoxyglucose (FDG) tracer.", "detailed_caption": "B: Positron emission tomography (PET) of the chest demonstrates intense 18F-fluorodeoxyglucose uptake within a right lower-lobe pulmonary mass, indicating a hypermetabolic lesion consistent with a primary lung neoplasm.", "modalities": ["pet/spect/nuclear"]}, {"type": "fig", "id": 2, "subfig": "C", "path": ["images/27579639/fig/4.jpg"], "caption": "Contrast-enhanced MRI of the brain.", "detailed_caption": "Contrast-enhanced MRI showed multiple foci of leptomeningeal enhancement around both frontal lobes, posterior fossa, and brain stem", "modalities": ["mri"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/27579639/fig/5.jpg"], "caption": "(A) Cytopathological examination of cerebrospinal fluid sample. (B) Immunohistochemistry for keratins AE1/AE3. (C) Immunohistochemistry for thyroid transcription factor 1 (TTF-1).", "detailed_caption": "Cytopathological examination of a sample of cerebrospinal fluid obtained from the patient shows metastatic adenocarcinoma. Abnormal large cells are present (Panel A). These cells show strong immunoreactivity (brown) for keratins AE1/AE3 (Panel B); this identifies the cells as being carcinomatous in origin. The cells are also positive for thyroid transcription factor 1 (TTF-1), a marker of lung adenocarcinomas (as well as thyroid carcinomas) (Panel C). Adjacent lymphocytes in Panels B and C are negative for AE1/AE3 and TTF-1.", "modalities": ["pathology"]}], "diagnosis": "Leptomeningeal carcinomatosis due to metastatic spread from a primary lung adenocarcinoma", "standardized_diagnosis": [{"original_term": "Lung adenocarcinoma", "corrected_term": null, "code": "2C25.0", "title": "lung adenocarcinoma", "chapter": "Diseases of the respiratory system", "primary": false}, {"original_term": "Leptomeningeal carcinomatosis", "corrected_term": null, "code": "2D51", "title": "meninges carcinomatosis", "chapter": "Neoplasms", "primary": true}, {"original_term": "Metastatic neoplasm", "corrected_term": null, "code": "2E03", "title": "metastatic tumour in bone", "chapter": "Neoplasms", "primary": false}]}, "year": 2016, "classification": "Neoplastic diseases"}
+{"pmid": "27797319", "patient_info": {"basic_info": "A 20-year-old male college student presented with bilateral breast enlargement of 3-year duration without nipple discharge. He reported occasional morning erections but had never been sexually active. Four years prior, he developed increased thirst, fluid consumption, and frequent urination (4-5 times daily, up to 3 times nightly), which had recently improved. He had blurred vision corrected with glasses, occasional post-exertion headaches, and decreased facial hair growth requiring shaving every 2 weeks instead of weekly. His medical history included generalized nocturnal tonic-clonic seizures and focal seizures in right leg between ages 6-13, treated with carbamazepine until age 14. He had recent constipation and chronic pilonidal cyst. Physical examination revealed a young-appearing male with minimal facial hair, blood pressure 98/62 mmHg, height 179 cm, weight 85 kg, BMI 26.5. Both breasts were enlarged without nipple retraction, masses, or discharge. Testicles were small (approximately 2.5 cm length). He had a small posterior anal fissure and small lump over coccyx with central punctum.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/27797319/tab/1.jpg"], "caption": "Laboratory results.", "detailed_caption": "Laboratory findings showed elevated sodium (164 mmol/L), elevated serum osmolality (334 mOsm/kg), low testosterone (23 ng/dL), very low luteinizing hormone (<0.1 U/L), elevated prolactin (68.7 ng/mL), and low estradiol (<20 pg/mL)", "modalities": ["lab"]}, {"type": "tab", "id": 2, "subfig": null, "path": ["images/27797319/tab/2.jpg"], "caption": "Additional laboratory results.", "detailed_caption": "Additional tests showed low free thyroxine (0.5 ng/dL), low cortisol (2.2 μg/dL at 8:45 PM), low insulin-like growth factor 1 (83 ng/mL), and normal cerebrospinal fluid studies except for slightly elevated protein (96 mg/dL)", "modalities": ["lab"]}, {"type": "fig", "id": 1, "subfig": null, "path": ["images/27797319/fig/3.jpg"], "caption": "Automated (Humphrey) visual-field testing performed during admission, visual fields of both eyes.", "detailed_caption": "Figure 1 in this document is titled \"Results of Visual-Field Testing\" and, according to the image and the caption on page 4, presents the results of automated (Humphrey) visual-field testing. The figure displays two visual-field plots showing bitemporal visual-field defects with predominant involvement of the temporal inferior quadrants. The modality is automated perimetry, the anatomical site examined is the visual fields of both eyes, the data acquisition timing appears to be during the patient’s diagnostic workup on admission, and the key technical finding is bitemporal, predominantly inferior, visual-field loss consistent with chiasmal involvement.", "modalities": ["ophthalmic imaging"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/27797319/fig/4.jpg"], "caption": "(A) MRI of the head, performed on admission, sagittal view, gadolinium-enhanced T1-weighted sequence. (B) MRI of the head, performed on admission, coronal view, gadolinium-enhanced T1-weighted sequence. (C) MRI of the head, performed on admission, axial view, gadolinium-enhanced T1-weighted sequence. (D) MRI of the head, performed on admission, axial view, T2-weighted sequence. (E) MRI of the head, performed on admission, coronal view, T2-weighted sequence.", "detailed_caption": "MRI Scan of the Head, Obtained on Admission. Shown are gadolinium-enhanced sagittal, coronal, and axial T₁-weighted images (Panels A, B, and C, respectively), as well as axial and coronal T₂-weighted images obtained before the administration of contrast material (Panels D and E, respectively). Abnormal, ill-defined enhancement is seen in the sellar and suprasellar regions (Panel A, arrows) and extending anteriorly into the suprachiasmatic and lamina terminalis regions. Additional foci of abnormal enhancement are present in the pineal region, posterior third ventricle, left thalamus, subependymal regions around the foramina of Monro, and left aspect of the genu of the corpus callosum (Panel C, arrows). Ill-defined areas of T₂ hyperintensity in the brain parenchyma are also shown around these enhancing foci.", "modalities": ["mri"]}], "diagnosis": "Intracranial germ-cell tumor (germinoma)", "standardized_diagnosis": [{"original_term": "Intracranial germ-cell tumor", "corrected_term": null, "code": "MB71.0", "title": "intracranial lesion", "chapter": "Symptoms, signs or clinical findings, not elsewhere classified", "primary": false}, {"original_term": "Germinoma", "corrected_term": null, "code": "2A00.1Y", "title": "germinoma of unspecified site", "chapter": "Neoplasms", "primary": true}]}, "year": 2016, "classification": "Neoplastic diseases"}
+{"pmid": "28052229", "patient_info": {"basic_info": "A 90-year-old man presented with a 1-month history of progressive edema in both legs and several episodes of malaise and dizziness associated with hypoglycemia. Physical examination revealed a n palpation.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/28052229/fig/1.jpg"], "caption": "Chest radiograph.", "detailed_caption": "Plain chest radiograph showed a round, irregular opacity inside the gastric chamber and a colonic segment below the right hemidiaphragm", "modalities": ["x-ray"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/28052229/fig/2.jpg"], "caption": "Upper gastrointestinal endoscopy of the subcardial area. Histologic examination of gastric tissue.", "detailed_caption": "Upper gastrointestinal endoscopy revealed a diffusely eroded, exophytic mass arising from the subcardial area. Histologic features were consistent with a high-grade, poorly differentiated gastric adenocarcinoma", "modalities": ["endoscopy", "pathology"]}], "diagnosis": "Advanced gastric cancer", "standardized_diagnosis": [{"original_term": "Gastric cancer", "corrected_term": null, "code": "2B72.Z", "title": "Malignant neoplasms of stomach", "chapter": "Neoplasms", "primary": true}]}, "year": 2017, "classification": "Neoplastic diseases"}
+{"pmid": "27825509", "patient_info": {"basic_info": "31-year-old male ski freerider with no significant medical history. Buried under snow for 3-5 minutes at 2500m above sea level, with hand visible. Head buried ~0.5m deep. Never lost consciousness. Presenting symptoms: unable to breathe due to compacted snow blocking airways. When uncovered: cyanotic but conscious, fully oriented, with peripheral and central cyanosis, tachypnea, and frank hemoptysis. Physical exam showed bilateral rales and crackles on pulmonary auscultation, no pain on thoracic compression, no oral bleeding wounds. Vital signs at admission: O2 saturation 93% on 100% oxygen, normal heart rate and blood pressure. Laboratory results: normal hemoglobin (168 g/L), normal B-type natriuretic peptide, normal troponin.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/27825509/fig/1.jpg"], "caption": "(A) Chest CT, apical region. (B) Chest CT, basal region.", "detailed_caption": "CT scan shows impressive bilateral diffuse pulmonary edema with extensive macular alveolar infiltrations throughout both lungs, visible in both apical (Subfig: A) and basal (Subfig: B) regions. No signs of trauma.", "modalities": ["ct"]}], "diagnosis": "Negative pressure pulmonary edema with pulmonary hemorrhage", "standardized_diagnosis": [{"original_term": "Negative pressure pulmonary edema", "corrected_term": null, "code": "CB01", "title": "Pulmonary oedema", "chapter": "Diseases of the respiratory system", "primary": true}, {"original_term": "Pulmonary hemorrhage", "corrected_term": null, "code": "MD23", "title": "Pulmonary haemorrhage", "chapter": "Symptoms, signs or clinical findings, not elsewhere classified", "primary": false}]}, "year": 2016, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "28126713", "patient_info": {"basic_info": "A 60-year-old woman presented after sustaining direct trauma to the anterior neck from a fall. She developed progressively worsening hoarse voice, difficulty swallowing, and pain with neck movement. Physical examination revealed visible neck swelling with bruising tracking onto the anterior chest wall. There was no tenderness on palpation of the cervical spine. On flexible nasal endoscopy, swelling of the posterior pharyngeal wall was observed, indicating potential airway compromise.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/28126713/fig/1.jpg"], "caption": "Lateral radiograph of the cervical region.", "detailed_caption": "Lateral radiograph showed massive retropharyngeal hematoma with distortion of the upper aerodigestive tract and loss of normal cervical lordosis.", "modalities": ["x-ray"]}], "diagnosis": "Massive retropharyngeal hematoma", "standardized_diagnosis": [{"original_term": "Retropharyngeal hematoma", "corrected_term": null, "code": "NA20.2&XJ1C6&XA93V5", "title": "retropharyngeal haematoma", "chapter": "Injury, poisoning or certain other consequences of external causes", "primary": true}]}, "year": 2017, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "27709474", "patient_info": {"basic_info": "A 59-year-old woman presented with a longstanding history of epilepsy with complex partial seizures, for which she had been using phenytoin for more than 20 years. She was referred with a 3-year history of progressive muscle weakness, associated with generalized bone and muscle pain, resulting in significant limitations in her daily activities. Her symptoms had further worsened with progressive proximal muscle pain and weakness and increasing bone pain. Physical examination revealed normal renal and liver function. Conventional radiographs demonstrated Looser's zones in the femoral neck bilaterally.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/27709474/tab/1.jpg"], "caption": "Laboratory findings at initial presentation and at subsequent time points, including phosphate, calcium, alkaline phosphatase, PTH, creatinine, vitamin D (25(OH) and 1,25(OH)2), and C-FGF23 levels.", "detailed_caption": "Laboratory findings show initial phosphate of 0.45 mmol/L, calcium of 2.13 mmol/L, alkaline phosphatase of 366 U/L, PTH of 7.0 pmol/L. At presentation in the center, phosphate was 0.56 mmol/L, calcium 2.08 mmol/L, creatinine 57 μmol/L, alkaline phosphatase 271 U/L, PTH 7.8 pmol/L, vitamin D 25(OH) 73 nmol/L, 1,25(OH)2 vitamin D 58 pmol/L, and C-FGF23 123 RU/L. Follow-up at 3 and 4 years showed progressive worsening with C-FGF23 rising to 1370 and 2050 U/L respectively.", "modalities": ["lab"]}, {"type": "fig", "id": 1, "subfig": "A", "path": ["images/27709474/fig/2.jpg"], "caption": "Skeletal scintigraphy performed 4 hours after injection of 99mTc hydroxydiphosphonate.", "detailed_caption": "Skeletal scintigraphy performed 4 h after injection of 99mTc hydroxydiphosphonate showing multiple focal areas of increased osteoblastic activity suggestive for microfractures together with general increased osteoblastic activity throughout the whole skeleton, suggestive for a metabolic bone disease.", "modalities": ["pet/spect/nuclear"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/27709474/fig/3.jpg"], "caption": "111Indium-pentetreotide planar total body scintigraphy, 24 hours after injection.", "detailed_caption": "111Indium-pentetreotide planar total body scintigraphy (24 h after injection) showing pathological somatostatin receptor expression in the left inguinal region.", "modalities": ["pet/spect/nuclear"]}, {"type": "fig", "id": 1, "subfig": "C", "path": ["images/27709474/fig/4.jpg"], "caption": "FDG-PET/CT fusion image, transverse view, left inguinal region (quadriceps femoris), SUVmax=4.2 g/cm³.", "detailed_caption": "Fusion transversal image of the 18fluorodeoxyglucose positron emission tomography/computed tomography (FDG-PET/CT) showing a soft tissue lesion with moderately increased glucose metabolism (maximum standardized uptake value 4.2 g/cm³) in the left inguinal region, situated in the m. quadriceps femoris.", "modalities": ["pet/spect/nuclear", "ct"]}, {"type": "fig", "id": 1, "subfig": "D", "path": ["images/27709474/fig/5.jpg"], "caption": "Transversal short tau inversion recovery (STIR) magnetic resonance imaging of the region inferior to the left hip joint.", "detailed_caption": "Transversal short tau inversion recovery (STIR) magnetic resonance image with an intermuscular located soft tissue mass inferior to the left hip joint. The lesion demonstrates inhomogeneous high signal intensity compared to muscle.", "modalities": ["mri"]}], "diagnosis": "Tumor-induced osteomalacia due to a fibroblast growth factor 23-producing phosphaturic mesenchymal tumor localized in the left quadriceps femoris muscle", "standardized_diagnosis": [{"original_term": "Tumor-induced osteomalacia", "corrected_term": null, "code": "FB83.2Z", "title": "osteomalacia NOS", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": false}, {"original_term": "Phosphaturic mesenchymal tumor", "corrected_term": null, "code": "2F9Z", "title": "neoplasm NOS", "chapter": "Neoplasms", "primary": true}]}, "year": 2016, "classification": "Neoplastic diseases"}
+{"pmid": "28232322", "patient_info": {"basic_info": "18-year-old pregnant woman. Healthy with no history of smoking, drug abuse, or family history of chromosomal disease or encephalodysplasia. Experienced mild flu-like symptoms during first month of pregnancy that resolved after three days without medication.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/28232322/fig/1.jpg"], "caption": "Ultrasound of fetal brain at 30 weeks' gestation.", "detailed_caption": "Ultrasound imaging of fetal brain at 30 weeks' gestation showing enlarged lateral ventricles", "modalities": ["ultrasound"]}], "diagnosis": "Fetal hydrocephalus, confirmed by enlarged lateral ventricles (>15 mm diameter) on ultrasound", "standardized_diagnosis": [{"original_term": "Fetal hydrocephalus", "corrected_term": null, "code": "JA85.0", "title": "Maternal care for fetal hydrocephalus", "chapter": "Pregnancy, childbirth or the puerperium", "primary": true}]}, "year": 2017, "classification": "Genetic and congenital disorders"}
+{"pmid": "28104685", "patient_info": {"basic_info": "47-year-old female presented to emergency department after being hit while skiing by another skier at high speed from behind. Immediate pain and marked general swelling of the knee joint occurred after impact. Unable to bear weight. Physical exam showed neurovascularly intact limb with no broken skin. No relevant medical, family, or social history.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/28104685/fig/1.jpg"], "caption": "AP radiograph of the proximal tibia.", "detailed_caption": "AP radiograph shows fracture line extending from medial proximal tibia border and vertical fracture line extending into the joint", "modalities": ["x-ray"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/28104685/fig/2.jpg"], "caption": "Lateral radiograph of the knee.", "detailed_caption": "Lateral radiograph shows edge-like segment of bone displaced posteriorly with substantial notching of the tibial plateau. Shows involvement of tibial spinous process suggesting possible soft tissue injury at cruciate ligament attachments", "modalities": ["x-ray"]}], "diagnosis": "Tibial plateau fracture - classified as AO/OTA 41B3 (partial articular split depression) or Schatzker type 5 (bicondylar tibial plateau fracture with metaphysis in continuity with diaphysis)", "standardized_diagnosis": [{"original_term": "Tibial plateau fracture", "corrected_term": null, "code": "NC92.3&XA5RE8", "title": "Fracture of lower end of tibia[Tibial Plateau]", "chapter": "Injury, poisoning or certain other consequences of external causes", "primary": false}, {"original_term": "Partial articular split depression fracture", "corrected_term": null, "code": "6A7Z", "title": "depression NOS", "chapter": "Mental, behavioural or neurodevelopmental disorders", "primary": false}, {"original_term": "Bicondylar tibial plateau fracture", "corrected_term": null, "code": "NC92.2", "title": "fracture of tibia", "chapter": "Injury, poisoning or certain other consequences of external causes", "primary": true}]}, "year": 2017, "classification": "Orthopedic and connective tissue disorders"}
+{"pmid": "28232306", "patient_info": {"basic_info": "A 69-year-old woman was referred to the eye emergency department with a dilated left pupil and ptosis of her right upper lid. She reported having odd pupils and a droopy right lid since being a teenager. She had no ocular or medical history and was not taking any medications. She denied any history of trauma, neck pain, weight loss, diplopia, or anhydrosis. On examination, both pupils constricted to light and accommodation with no relative afferent pupillary defect. Iris color was equal bilaterally. Visual acuity was 6/9 in both eyes and intraocular pressures were 12 mm Hg (right) and 14 mm Hg (left). Ocular motility was full and funduscopy showed healthy optic discs. No other neurological signs were present.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/28232306/fig/1.jpg"], "caption": "(A) Clinical photograph of the right upper eyelid in room light and distance fixation. (B) Clinical photograph of the right pupil in room light and distance fixation.", "detailed_caption": "Photograph showing right upper lid ptosis (A) and right miosis (B) in room light and distance fixation", "modalities": ["clinical"]}], "diagnosis": "Right idiopathic Horner's syndrome (longstanding, present since age 19)", "standardized_diagnosis": [{"original_term": "Idiopathic Horner's syndrome", "corrected_term": null, "code": "8D8A.1", "title": "Horner syndrome", "chapter": "Diseases of the nervous system", "primary": true}]}, "year": 2017, "classification": "Neurological disorders"}
+{"pmid": "28099829", "patient_info": {"basic_info": "An 18-year-old Southeast Asian woman presented to the emergency department 11 weeks after giving birth to her first child with acute liver failure. She had been well until one week prior, when she developed rhinorrhea, sore throat, and cough. Four days before presentation, bronchitis was diagnosed and she was prescribed azithromycin and promethazine-dextromethorphan syrup. Over the subsequent three days, she developed abdominal discomfort, nausea, vomiting, diarrhea, vaginal bleeding, and progressive yellowing of her skin and eyes. On the morning of presentation, she experienced light-headedness and syncope with a fall resulting in a chin laceration. Physical examination revealed marked jaundice, fatigue, tachycardia (pulse 120 beats per minute), hypotension (82/56 mmHg), tachypnea (22 breaths per minute), nystagmus on right lateral gaze, abdominal distention with right lower quadrant tenderness, and trace leg edema. She had a history of mild asthma and had given birth at 32 weeks gestation after pregnancy complications including preterm labor and placental abruption. She had remained in the hospital for one week after delivery due to unspecified abnormal laboratory results. A grandmother had unspecified liver disease. She did not smoke, use illicit drugs, or drink alcohol.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/28099829/tab/1.jpg"], "caption": "Laboratory results.", "detailed_caption": "Laboratory results showed severe anemia with hematocrit 19.6% and hemoglobin 6.4 g/dl at the other hospital, improving slightly to 23.4% and 7.9 g/dl at MGH. Mean corpuscular volume was elevated at 113.8-105.9 fl. White cell count was normal but with left shift including myelocytes and metamyelocytes. Platelet count was normal. Coagulation was severely abnormal with prothrombin time 24.5 seconds and INR 2.6-2.1. Total bilirubin was markedly elevated at 19.7-26.3 mg/dl with direct bilirubin 21.9 mg/dl. Aspartate aminotransferase was elevated at 152 U/liter while alanine aminotransferase was normal at 20-24 U/liter. Alkaline phosphatase was low at 22-14 U/liter. Gamma-glutamyltransferase was elevated at 116 U/liter. Albumin was low at 2.1-2.2 g/dl. Lactate dehydrogenase was elevated at 344 U/liter. Ammonia was at the upper limit of normal at 49 μmol/liter.", "modalities": ["lab"]}, {"type": "fig", "id": 1, "subfig": null, "path": ["images/28099829/fig/2.jpg"], "caption": "(A) Grayscale abdominal ultrasound of the liver. (B) Grayscale abdominal ultrasound of the gallbladder. (C) Color Doppler ultrasound of the common bile duct. (D) Pulsed-wave Doppler ultrasound of the hepatic artery. (E) Pulsed-wave Doppler ultrasound of the portal veins. (F) Pulsed-wave Doppler ultrasound of the hepatic veins.", "detailed_caption": " Abdominal Ultrasound Images. Grayscale ultrasound images show mildly echogenic parenchyma of the liver (Panel A) and distention of the gallbladder, with layering sludge, wall edema, and a small amount of pericholecystic fluid (Panel B). A color Doppler ultrasound image shows that the common bile duct is normal in diameter (Panel C). Pulsed-wave Doppler ultrasound images show normal flow of the hepatic artery (Panel D), portal veins (Panel E), and hepatic veins (Panel F).", "modalities": ["ultrasound"]}], "diagnosis": "Fulminant hepatic failure due to Wilson's disease", "standardized_diagnosis": [{"original_term": "Fulminant hepatic failure", "corrected_term": null, "code": "DB91.Z", "title": "fulminant hepatic failure", "chapter": "Diseases of the digestive system", "primary": true}, {"original_term": "Wilson's disease", "corrected_term": null, "code": "5C64.00", "title": "Wilson disease", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": false}]}, "year": 2017, "classification": "Genetic and congenital disorders"}
+{"pmid": "27959664", "patient_info": {"basic_info": "17-year-old male with high myopia and craniofacial/skeletal abnormalities. Born full term via vaginal delivery, birth weight 4.3kg. Height was at 80th percentile until age 15, then plateaued at 55th percentile. At age 13, developed grade 3/6 systolic heart murmur. Had dental crowding and class III dentofacial growth pattern at age 12. Physical exam showed retroclined lower teeth. Had pectus excavatum present at birth. Current measurements: weight 66.3kg (48th percentile), height 177.5cm (58th percentile), head circumference 58.5cm (98th percentile). Loss of normal upper spine curvature and scoliosis noted.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/27959664/fig/1.jpg"], "caption": "(A) Clinical photograph, frontal view. (B) Lateral cephalogram, head. (C) Clinical photograph, right eye, anterior segment. (D) Clinical photograph, right eye, dilated pupil. (E,F) Clinical photographs, chest wall.", "detailed_caption": "Clinical images showing: (A) Mild frontal bossing, downward-slanted lateral canthi, low-set and protruding ears, severe midface hypoplasia and maxillary retrognathia. (B) Lateral cephalogram showing frontal bossing, severe midface retrognathia, negative overjet >10mm, and impacted 12-year molars. (C) Right eye showing shallow anterior chamber. (D) Dilated right pupil showing entire lens perimeter visible, suggesting microspherophakia. (E,F) Mixed chest wall defect with pectus excavatum and lower sternal protrusion.", "modalities": ["clinical", "x-ray"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/27959664/fig/2.jpg"], "caption": "(A) Lateral lumbar spine x-ray. (B) DEXA scan, bone mineral density=0.75 g/cm², z-score=–2.7.", "detailed_caption": "Imaging studies showing: (A) Lateral lumbar spine x-ray revealing concave superior and inferior end-plate depressions at multiple lumbar levels ('codfish' vertebrae). (B) DEXA scan showing bone mineral density of 0.75 g/cm2, corresponding to z-score of -2.7, indicating osteoporosis.", "modalities": ["x-ray"]}, {"type": "tab", "id": 1, "subfig": null, "path": ["images/27959664/tab/3.jpg"], "caption": "Laboratory results.", "detailed_caption": "Laboratory results showing markedly elevated blood homocysteine (237.0 μmol/L), elevated methionine (240 nmol/ml), normal methylmalonic acid and methylcitrate levels, normal vitamin B12 (410 pg/ml), normal folate (10.4 ng/ml), and normal complete blood count", "modalities": ["lab"]}], "diagnosis": "Homocystinuria caused by cystathionine β-synthase deficiency", "standardized_diagnosis": [{"original_term": "Homocystinuria", "corrected_term": null, "code": "5C50.B", "title": "Homocystinaemia", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": true}, {"original_term": "Cystathionine β-synthase deficiency", "corrected_term": null, "code": "5C50.B", "title": "cystathionine synthase deficiency", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": false}]}, "year": 2016, "classification": "Endocrine and metabolic disorders"}
+{"pmid": "28146669", "patient_info": {"basic_info": "A 41-year-old man with morbid obesity (weight 159 kg, BMI 49.1) since childhood presented for bariatric surgery consideration. He had a history of hyperlipidemia and prior cholecystectomy, taking rosuvastatin and ezetimibe with no known drug allergies. He was a current smoker with a 30-year history of 1-3 packs per day, had remote excessive alcohol use but was abstinent for 15 years, and denied illicit drug use. He worked in information technology, lived with his wife and three children, and had no known family history of gastrointestinal disorders. Eight years after undergoing Roux-en-Y gastric bypass, he presented with epigastric and left upper quadrant abdominal pain (5/10 severity) exacerbated by eating, without melena or hematochezia. Physical examination showed abdominal tenderness without rebound or guarding. Basic metabolic panel, blood count, and liver function tests were unremarkable. He later developed foul-smelling, watery diarrhea 6-7 times daily with visible food particles, pale floating stools that were difficult to flush, increased flatus, and daily feculent eructation. After 4 months, he presented to the emergency department with progressive weakness, myalgias, muscle cramps, and weight loss from 95.3 kg to 72.6 kg. He appeared chronically ill and cachectic with dry mucous membranes, feculent breath, and diminished skin turgor.", "supplementary_info": [{"type": "fig", "id": 2, "subfig": null, "path": ["images/28146669/fig/1.jpg"], "caption": "Endoscopic examination of the gastrojejunal anastomosis.", "detailed_caption": "Endoscopic view showed marginal ulceration at the jejunal aspect of the gastrojejunal anastomosis with suture material present", "modalities": ["endoscopy"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/28146669/fig/2.jpg"], "caption": "Upper gastrointestinal series.", "detailed_caption": "Upper gastrointestinal series revealed contrast material traveling from the esophagus through the gastric pouch and fistulous tract directly to the transverse colon and descending colon, with no contrast material visible in the small bowel or proximal large bowel", "modalities": ["x-ray"]}], "diagnosis": "Gastrocolic fistula complicating marginal ulceration after Roux-en-Y gastric bypass", "standardized_diagnosis": [{"original_term": "Gastrocolic fistula", "corrected_term": null, "code": "DA62.3", "title": "gastrocolic ulcer", "chapter": "Diseases of the digestive system", "primary": true}, {"original_term": "Marginal ulceration", "corrected_term": null, "code": "DA62.Y", "title": "marginal ulcer", "chapter": "Diseases of the digestive system", "primary": false}]}, "year": 2017, "classification": "Gastrointestinal disorders"}
+{"pmid": "28428189", "patient_info": {"basic_info": "13 year old boy presented to orthopaedic clinic with painful, swollen right wrist after falling forward. No limb deformities were found on examination.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/28428189/fig/1.jpg"], "caption": "(A) Anteroposterior radiograph of the right wrist. (B) Lateral radiograph of the right wrist.", "detailed_caption": "Anteroposterior and lateral radiographs of the right wrist showed typical torus fracture changes on the right ulna and radius", "modalities": ["x-ray"]}], "diagnosis": "Wrist torus fracture", "standardized_diagnosis": [{"original_term": "Torus fracture of wrist", "corrected_term": null, "code": "NC53.Z", "title": "wrist fracture NOS", "chapter": "Injury, poisoning or certain other consequences of external causes", "primary": true}]}, "year": 2017, "classification": "Orthopedic and connective tissue disorders"}
+{"pmid": "28029921", "patient_info": {"basic_info": "A 14-month-old girl presented with a 3-month history of recurrent episodic vomiting that began when she was 11 months old. She had four distinct episodes, each lasting 3-5 days and associated with lethargy, decreased oral intake, and intermittent diarrhea. The patient was born at full-term without complications. During the previous 3 months, she showed developmental regression, stopping attempts to walk and only crawling unsteadily with occasional falls. Parents reported occasional morning 'shakes' consisting of symmetric movements lasting seconds over 10 minutes without loss of consciousness. On physical examination, she was alert and interactive but had frontal bossing, a full fontanelle with visible pulsations when supine, and head circumference 51.5 cm. Neurologic examination revealed decreased muscle tone in legs with brisk 3+ patellar reflexes and flexor plantar reflexes. Eye movements were normal with equally reactive pupils and no nystagmus or movement limitations. Family history included paternal gallstones and pancreatitis, diabetes in both grandfathers, and various other conditions but no celiac disease.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/28029921/tab/1.jpg"], "caption": "Laboratory results from multiple episodes. Urinalysis. Venous blood gas analysis.", "detailed_caption": "Laboratory results showed normal sodium (138-144 mmol/L), potassium (4.4-5.1 mmol/L), and glucose (69-100 mg/dL) across episodes. Notable findings included low carbon dioxide (16 mmol/L) and elevated anion gap (26) during the second episode. On the day of admission, elevated lactate (5.0 mmol/L), low total carnitine (27 nmol/ml, normal 35-84), low free carnitine (18 nmol/ml, normal 24-63), and elevated calcium (11.4 mg/dL) were present. Later measurements showed elevated pyruvate (2.9 mg/dL, normal 0.7-1.4) and β-hydroxybutyrate (0.8 mmol/L, normal <0.4). Venous blood gases showed pH 7.43, PCO2 33 mmHg, and oxygen saturation 76.6%. Urinalysis revealed 1+ ketones and 5 white cells per hpf. Blood levels of amylase, lipase, ammonia, liver enzymes, bilirubin, pyruvate kinase, and amino acids were normal.", "modalities": ["lab"]}, {"type": "fig", "id": 1, "subfig": null, "path": ["images/28029921/fig/2.jpg"], "caption": "(A) Growth chart for length and weight in relation to age, including measurements at 14 months. (B) Growth chart for head circumference in relation to age and weight in relation to length, including measurements at birth, 9 months, and 14 months.", "detailed_caption": "Growth Charts. Panel A shows the patient’s charts for length and weight in relation to age. Since birth, the weight has remained near the 50th percentile for her age and the length has ranged between the 50th percentile and greater than the 95th percentile, with the most recent measurement, obtained when she was 14 months of age, falling in the 75th percentile. Panel B shows the patient’s chart for head circumference in relation to age and for weight in relation to length. The head circumference was in the 50th percentile at birth but was in the 95th percentile when she was 9 months of age, with continued increase in percentile between 9 and 14 months of age. ", "modalities": ["clinical"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/28029921/fig/3.jpg"], "caption": "(A) MRI of the head, obtained on presentation, sagittal view, T1-weighted sequence, without gadolinium. (B) MRI of the head, obtained on presentation, sagittal view, high-resolution T2-weighted sequence. (C) MRI of the head, obtained on presentation, sagittal view, T1-weighted sequence, after gadolinium administration. (D, E) MRI of the head, obtained on presentation, axial view, T2-weighted sequence. (F) MRI of the head, obtained on presentation, susceptibility-weighted sequence.", "detailed_caption": "MRI of the Head Obtained on Presentation. A sagittal T₁-weighted image (Panel A), obtained without the administration of gadolinium, shows macrocephaly with marked enlargement of the lateral and third ventricles and downward bowing of the floor of the third ventricle into the sella turcica; the fourth ventricle is normal in size. A high-resolution sagittal T₂-weighted image (Panel B) shows stenosis of the cerebral aqueduct (arrow). A sagittal T₁-weighted image (Panel C), obtained after the administration of gadolinium, shows no abnormal enhancement; there is no evidence of an obstructing mass or ventriculitis. Axial T₂-weighted images (Panels D and E) show transependymal flow of the cerebrospinal fluid along the margins of the lateral ventricles (Panel E, arrow) and an interrupted intraventricular septum, a finding that can be seen with long-standing hydrocephalus. A susceptibility-weighted image (Panel F) shows no evidence of intracranial hemorrhage.", "modalities": ["mri"]}], "diagnosis": "Aqueductal stenosis with hydrocephalus", "standardized_diagnosis": [{"original_term": "Aqueductal stenosis", "corrected_term": null, "code": "LA04.0", "title": "Stenosis of the aqueduct of Sylvius", "chapter": "Developmental anomalies", "primary": false}, {"original_term": "Hydrocephalus", "corrected_term": null, "code": "8D64.Z", "title": "Hydrocephalus", "chapter": "Diseases of the nervous system", "primary": true}]}, "year": 2016, "classification": "Neurological disorders"}
+{"pmid": "28302624", "patient_info": {"basic_info": "A 52-year-old woman presented with a two-day history of lower back pain radiating into her left leg with associated leg weakness. She had a history of chronic back pain. Neurological examination revealed reduced power in her left leg (3/5), but was otherwise normal.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/28302624/fig/1.jpg"], "caption": "Mid-sagittal lumbosacral spine MRI, T2-weighted sequence.", "detailed_caption": "Mid-sagittal T2 weighted lumbosacral spine MRI scan showed disc prolapse at L4/L5", "modalities": ["mri"]}], "diagnosis": "Disc prolapse at L4/L5", "standardized_diagnosis": [{"original_term": "Intervertebral disc prolapse", "corrected_term": null, "code": "FA80.0", "title": "Intervertebral disc degeneration without prolapsed disc with determinant", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": true}]}, "year": 2017, "classification": "Neurological disorders"}
+{"pmid": "28273029", "patient_info": {"basic_info": "A 73-year-old man presented with confusion and irritability. Two days prior, he developed increasing weakness, lethargy, chills, and diarrhea, becoming less responsive and increasingly confused. His oral intake decreased to 500ml of liquid daily. He became almost catatonic, unable to arise from bed, with recurrent epistaxis and chest/left arm pain. His medical history included diabetes mellitus, atrial fibrillation, diastolic heart failure, pulmonary hypertension, and a history of exudative pericardial effusion that spontaneously resolved. He had recurrent epistaxis since childhood. Additional history included hyperlipidemia, pancytopenia, obstructive sleep apnea, GERD, and headaches. Family history included mother and daughter with recurrent epistaxis. On examination, he was somnolent but easily roused, oriented but with waxing/waning attention. Physical findings included dry mucous membranes, dried blood around nares, multiple telangiectasias on face/lips/torso, nonblanching cherry angiomas on chest, irregularly irregular heart sounds, and liver edge palpable 2cm below right costal margin. His legs showed chronic venous insufficiency changes.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/28273029/tab/1.jpg"], "caption": "Laboratory results.", "detailed_caption": "Laboratory results showed hematocrit 31.7%, hemoglobin 10.6 g/dL, WBC 6600/mm3, platelets 274,000/mm3, PT/INR 34.4sec/3.4, potassium 3.0 mmol/L, BUN 41 mg/dL, creatinine 1.74 mg/dL, ammonia 55 μmol/L. Other chemistry values were normal.", "modalities": ["lab"]}, {"type": "fig", "id": 1, "subfig": null, "path": ["images/28273029/fig/2.jpg"], "caption": "(A) Ultrasound of the right lower lobe of the liver. (B) Doppler ultrasound of the portal vein. (C) Doppler ultrasound of the hepatic vein.", "detailed_caption": " Ultrasound Images of the Right Upper Quadrant. An image of the right lower lobe of the liver (Panel A) shows a communication between the right portal vein (arrow) and the right hepatic vein (arrowhead). Doppler ultrasound images show the portal vein (Panel B, arrow) and the hepatic vein (Panel C, arrow).", "modalities": ["ultrasound"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/28273029/fig/3.jpg"], "caption": "CT of the abdomen.", "detailed_caption": "CT of abdomen showed pneumatosis of ascending colon to hepatic flexure, without portal venous gas. Also noted cholelithiasis, atherosclerotic disease of aorta and mesenteric vessels, and cardiomegaly.", "modalities": ["ct"]}], "diagnosis": "Hereditary hemorrhagic telangiectasia", "standardized_diagnosis": [{"original_term": "Hereditary hemorrhagic telangiectasia", "corrected_term": null, "code": "LA90.00", "title": "Hereditary haemorrhagic telangiectasia", "chapter": "Diseases of the skin", "primary": true}]}, "year": 2017, "classification": "Genetic and congenital disorders"}
+{"pmid": "28478970", "patient_info": {"basic_info": "Male newborn delivered at term via spontaneous vaginal delivery to healthy mother. Pregnancy was uncomplicated. Patient was active, afebrile, and feeding well. Physical exam showed widely disseminated blueberry muffin rash present at birth, characterized by many scattered, non-tender papules (2-6 mm diameter) affecting the face, scalp, trunk, back, diaper region, arms, legs, palms and soles.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/28478970/fig/1.jpg"], "caption": "(A) Clinical photograph of the head and neck acquired at birth during the initial physical examination. (B) Clinical photograph of the body acquired at birth during the initial physical examination.", "detailed_caption": "Figure 1 consists of clinical photographs showing multiple firm, non-blanching, purple papules in a neonate with Langerhans cell histiocytosis, with subfigure A depicting the head and neck and subfigure B depicting the body; these images demonstrate the disseminated \"blueberry muffin\" rash affecting the face, scalp, trunk, back, diaper region, arms, and legs, including the palms and soles, acquired at birth during the initial physical examination.", "modalities": ["clinical"]}], "diagnosis": "Langerhans cell histiocytosis presenting as blueberry muffin rash", "standardized_diagnosis": [{"original_term": "Langerhans cell histiocytosis", "corrected_term": null, "code": "2B31.2Z", "title": "Langerhans cell histiocytosis", "chapter": "Diseases of the skin", "primary": true}, {"original_term": "Blueberry muffin rash", "corrected_term": null, "code": "ME66.6Z", "title": "Rash", "chapter": "Diseases of the skin", "primary": false}]}, "year": 2017, "classification": "Neoplastic diseases"}
+{"pmid": "28379799", "patient_info": {"basic_info": "42-year-old man with hyperlipidemia and family history of coronary artery disease presented with 4-month history of intermittent exertional chest pain", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/28379799/fig/1.jpg"], "caption": "Myocardial perfusion imaging during exercise.", "detailed_caption": "Myocardial perfusion imaging during exercise showed moderate ischemia in the distribution of the left circumflex coronary artery", "modalities": ["pet/spect/nuclear"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/28379799/fig/2.jpg"], "caption": "Coronary computed tomographic angiography.", "detailed_caption": "Coronary computed tomographic angiography (CTA) revealed large amount of atherosclerotic plaque in the proximal left circumflex coronary artery with severe stenosis", "modalities": ["ct", "angiography"]}], "diagnosis": "Coronary artery disease with severe stenosis of left circumflex coronary artery", "standardized_diagnosis": [{"original_term": "Coronary artery disease", "corrected_term": null, "code": "BA8Z", "title": "Diseases of coronary artery, unspecified", "chapter": "Diseases of the circulatory system", "primary": true}, {"original_term": "Coronary artery stenosis", "corrected_term": null, "code": "LA8C.Y", "title": "Congenital coronary arterial orifice stenosis", "chapter": "Developmental anomalies", "primary": false}]}, "year": 2017, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "28177871", "patient_info": {"basic_info": "53-year-old male with long-standing malaise and fatigue. Had a slow-growing mesenteric mass (5cm in diameter) present for 16 years based on previous imaging. Pre-treatment blood abnormalities showed elevated IgG4 levels (2500 mg/dL), elevated C-reactive protein (8.4 mg/dL), and elevated erythrocyte sedimentation rate (119 mm/hr). Prior to treatment initiation, patient had elevated serum amyloid level of 350 mg/L.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A,B", "path": ["images/28177871/fig/1.jpg"], "caption": "(A) Mesenteric mass biopsy, immunohistochemical staining for IgG. (B) Mesenteric mass biopsy, immunohistochemical staining for IgG4, mean IgG4-positive plasma cells per high-power field=421, IgG4/IgG plasma cell ratio=0.53.", "detailed_caption": "Shown are biopsy samples obtained from a 53‑year‑old man with renal AA amyloidosis that was apparently associated with IgG4‑related disease. A sample that was obtained from a mesenteric mass underwent immunohistochemical staining for IgG (Panel A) and IgG4 (Panel B), with the latter showing diffuse, scattered IgG4‑positive plasma cells. The average number of plasma cells that were positive for IgG4 (a mean of 421 cells per high‑power field out of three analyses, with a ratio of IgG4‑positive plasma cells to IgG‑positive plasma cells of 0.53) fit the diagnosis of IgG4‑related disease.", "modalities": ["pathology"]}, {"type": "fig", "id": 1, "subfig": "C,D", "path": ["images/28177871/fig/2.jpg"], "caption": "(C) Kidney cortex, silver staining. (D) Kidney cortex, Congo red staining, polarized light.", "detailed_caption": "The renal cortex shows expanded mesangial areas with a loss of argyrophilia and thickened capillary walls (Panel C, silver staining), and apple‑green birefringence is visible in the mesangium and along capillaries under polarized light (Panel D, Congo red staining).", "modalities": ["pathology"]}], "diagnosis": "IgG4-related disease with mesenteric involvement and secondary renal AA amyloidosis", "standardized_diagnosis": [{"original_term": "IgG4-related disease", "corrected_term": null, "code": "4A43.0", "title": "IgG4 related disease", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": true}, {"original_term": "Mesenteric involvement", "corrected_term": null, "code": "2C53.Z&XA43V8", "title": "Malignant neoplasm involving overlapping sites of retroperitoneum, peritoneum or omentum[Mesentery]", "chapter": "Neoplasms", "primary": false}, {"original_term": "Secondary renal AA amyloidosis", "corrected_term": null, "code": "5D00.1", "title": "Secondary amyloidosis", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": false}]}, "year": 2017, "classification": "Infectious and immunologic disorders"}
+{"pmid": "28382085", "patient_info": {"basic_info": "A 39-year-old Korean male presented with intermittent and atypical chest discomfort symptoms. His medical history included burning pain originating in the extremities and radiating inwards to the limbs since childhood, which was previously dismissed as 'growing pains'. He also experienced ringing in the ears, had angiokeratomas on his trunk, and cornea verticillata. Physical examination revealed proteinuria (P/C ratio 0.501) without hematuria and normal renal function. His plasma αGal-A activity was markedly lower than controls at 4.1 nmoL/hr/mg protein (normal cutoff >35 nmoL/hr/mg protein). Genetic testing identified a hemizygous mutation in exon 4 of GLA, c.617T>C (p.Leu206 Pro).", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/28382085/fig/1.jpg"], "caption": "Electrocardiogram.", "detailed_caption": "Electrocardiogram showed T wave inversion in I,II, aVL, aVF, V4-6, left ventricular hypertrophy with voltage criteria, and sinus bradycardia", "modalities": ["electrophysiology"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/28382085/fig/2.jpg"], "caption": "Echocardiography, left ventricle, interventricular septum thickness 18.1 mm, posterior wall thickness 13.0 mm, LV mass index 203.9 g/m², relative wall thickness 0.61.", "detailed_caption": "Echocardiograph demonstrated normal left ventricular systolic function with increased interventricular septum thickness (18.1 mm) and LV posterior wall thickness (13.0 mm), LV mass index 203.9 g/m2, relative wall thickness 0.61", "modalities": ["ultrasound"]}, {"type": "fig", "id": 2, "subfig": "A, B", "path": ["images/28382085/fig/3.jpg"], "caption": "(A) Electron microscopy of the glomeruli. (B) Electron microscopy of the tubular epithelium.", "detailed_caption": "The patient showed the renal pathology. (A) Glomeruli examined by electron microscopy show characteristic round, whorled, laminated electrondense structures filling the podocyte cytoplasm and a few endothelial cells. (B) The characteristic lipid inclusions with whorled architecture pack the tubular epithelial cytoplasm upon electron microscopy.", "modalities": []}], "diagnosis": "Classic form Fabry disease with a novel GLA mutation (p.Leu206 Pro)", "standardized_diagnosis": [{"original_term": "Fabry disease", "corrected_term": null, "code": "5C56.01", "title": "Fabry disease", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": true}]}, "year": 2017, "classification": "Genetic and congenital disorders"}
+{"pmid": "28355500", "patient_info": {"basic_info": "A 6-month-old boy presented to the emergency department with gastrointestinal bleeding and abdominal pain. Two days prior, he began having intermittent episodes of abdominal pain that woke him from sleep, during which he would cry and pull his legs toward his chest. His abdomen felt rigid during these episodes. He had a history of infantile colic and gastroesophageal reflux previously treated with ranitidine. He was on low-lactose cow milk-based formula and had recently started pureed foods. The patient had three bowel movements with increasing amounts of reddish discoloration, culminating in a bowel movement that appeared to be almost entirely blood with a large clot. Initial vital signs showed temperature 36.5°C, pulse 178/min, blood pressure 95/52 mmHg, respiratory rate 24/min, and oxygen saturation 100%. Physical examination revealed diffuse abdominal tenderness, greater on the right side, with no masses or external anal fissures. Later examination showed pallor, with pulse 168/min and blood pressure 94/36 mmHg.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/28355500/tab/1.jpg"], "caption": "Laboratory results.", "detailed_caption": "Laboratory data showed markedly decreased hematocrit (17.5%) and hemoglobin (5.7 g/dL), elevated white blood cell count (22,200/mm³), elevated reticulocyte count (7.6%), and low iron (19 μg/dL). Other tests including coagulation studies, liver function, and protein levels were largely normal.", "modalities": ["lab"]}, {"type": "fig", "id": 1, "subfig": null, "path": ["images/28355500/fig/2.jpg"], "caption": "(A) Technetium-99m pertechnetate scan of the abdomen, anterior planar images, 1-hour continuous acquisition. (B) Technetium-99m pertechnetate scan of the abdomen, lateral planar images.", "detailed_caption": "Technetium-99m Pertechnetate Scan of the Abdomen. A technetium-99m pertechnetate scan of the abdomen was performed to assess for Meckel’s diverticulum. Anterior planar images (Panel A), which were obtained continuously for 1 hour, show an abnormal focus of radiotracer accumulation in the right paramedian region of the abdomen that gradually increases in intensity over time (black arrow). Physiological radiotracer accumulation is present in the stomach (white arrow), bowel (arrowhead), and bladder (asterisk). Lateral planar images (Panel B) confirm that the abnormal focus of radiotracer accumulation (arrow) is in a location that is compatible with bowel activity and is not consistent with urinary activity, which would be more posterior.", "modalities": ["pet/spect/nuclear"]}], "diagnosis": "Meckel's diverticulum with heterotopic gastric mucosa and associated peptic ulceration in the intestinal mucosa", "standardized_diagnosis": [{"original_term": "Meckel's diverticulum", "corrected_term": null, "code": "LB15.0", "title": "Meckel diverticulum", "chapter": "Developmental anomalies", "primary": true}, {"original_term": "Heterotopic gastric mucosa", "corrected_term": null, "code": "LB12.Y", "title": "Heterotopic gastric mucosa", "chapter": "Developmental anomalies", "primary": false}, {"original_term": "Peptic ulceration", "corrected_term": null, "code": "DA61", "title": "peptic ulcer NOS", "chapter": "Diseases of the digestive system", "primary": false}]}, "year": 2017, "classification": "Gastrointestinal disorders"}
+{"pmid": "28274995", "patient_info": {"basic_info": "24-year-old man presents with severely itchy rash that spread over two months. Had previously used an over-the-counter cream containing clobetasol, ofloxacin, terbinafine, and ornidazole which helped initially.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/28274995/fig/1.jpg"], "caption": "Clinical photograph of the groin, thighs, and penis.", "detailed_caption": "Shows extensive tinea cruris and tinea corporis with erythematous, eczematous, and scaly lesions in groin, both thighs, and penis", "modalities": ["clinical"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/28274995/fig/2.jpg"], "caption": "Clinical photograph of the thighs.", "detailed_caption": "Figure 2 is a clinical photograph depicting widespread tinea corporis involving the thighs, showing multiple large annular lesions with steroid-induced hypopigmentation on the thigh, visible steroid-induced striae on the right medial thigh, and multiple eczematous circles within some of the lesions.", "modalities": ["clinical"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/28274995/fig/3.jpg"], "caption": "Clinical photograph of the skin.", "detailed_caption": "Figure 3 is a clinical photograph depicting classic double edges of steroid-modified tinea on the skin, showing eczematous circular lesions with ill-defined borders within the main lesion, demonstrating the modified dermatological appearance associated with topical steroid use.", "modalities": ["clinical"]}], "diagnosis": "Steroid modified tinea (tinea incognito)", "standardized_diagnosis": [{"original_term": "Tinea incognito", "corrected_term": null, "code": "1F28.Y", "title": "tinea incognito", "chapter": "Diseases of the skin", "primary": true}]}, "year": 2017, "classification": "Dermatologic and mucosal diseases"}
+{"pmid": "28336512", "patient_info": {"basic_info": "A 54-year-old male smoker with a 20 pack-year smoking history presented with a six-week history of fever, anorexia, worsening cough, and dyspnoea. He had a past medical history significant for previous coronary artery bypass grafting.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/28336512/fig/1.jpg"], "caption": "Chest radiograph.", "detailed_caption": "Chest radiograph showed previous sternotomy, borderline cardiomegaly, pulmonary oedema, right lower zone consolidation, and a right mid zone oval density.", "modalities": ["x-ray"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/28336512/fig/2.jpg"], "caption": "Chest radiograph.", "detailed_caption": "Chest radiograph showing an encysted pleural effusion (lenticular shaped opacity) along the right oblique fissure (asterisk), a right sided lamellar pleural effusion (arrow), and left subpulmonic effusion (line)", "modalities": ["x-ray"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/28336512/fig/3.jpg"], "caption": "(A) Thoracic contrast-enhanced computed tomography, coronal view. (B) Thoracic contrast-enhanced computed tomography, sagittal view. (C) Thoracic contrast-enhanced computed tomography, axial view.", "detailed_caption": "Coronal (A), sagittal (B), and axial (C) contrast enhanced thoracic computed tomography showing a well defined, oval fluid density with tapering ends related to the right oblique fissure, characteristic of an encysted pleural effusion (arrows). Bilateral pleural effusions are also seen, worst on the left side (triangles)", "modalities": ["ct"]}], "diagnosis": "Encysted pleural fluid in the right oblique fissure, with congestive heart failure and coexisting right lobar pneumonia caused by Mycoplasma pneumoniae", "standardized_diagnosis": [{"original_term": "Encysted pleural effusion", "corrected_term": null, "code": "CB27", "title": "Pleural effusion", "chapter": "Diseases of the respiratory system", "primary": false}, {"original_term": "Congestive heart failure", "corrected_term": null, "code": "BD10", "title": "Congestive heart failure", "chapter": "Diseases of the circulatory system", "primary": false}, {"original_term": "Right lobar pneumonia", "corrected_term": null, "code": "CA40.Z&XK9K", "title": "lobar pneumonia NOS[Right]", "chapter": "Diseases of the respiratory system", "primary": true}]}, "year": 2017, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "28450281", "patient_info": {"basic_info": "A 68-year-old woman presented with intermittent retrosternal heartburn that had been ongoing for several years. Physical examination revealed no abnormalities. The electrocardiogram (ECG) also showed no abnormalities.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/28450281/fig/1.jpg"], "caption": "Chest X-ray performed on hospital admission, frontal view, thoracic region.", "detailed_caption": "The figure referred to as \"Figure 1\" is a plain chest radiograph acquired at the time of hospital admission for a 68-year-old woman with intermittent retrosternal heartburn. The image is a frontal chest X-ray showing the thoracic region, and it demonstrates a retrocardiac opacity consistent with a diagnosis of hiatal hernia.", "modalities": ["x-ray"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/28450281/fig/2.jpg"], "caption": "CT scan, axial view, stomach and chest.", "detailed_caption": "Axial CT scan shows protrusion of the stomach into the chest", "modalities": ["ct"]}], "diagnosis": "Hiatal hernia", "standardized_diagnosis": [{"original_term": "Hiatal hernia", "corrected_term": null, "code": "DD50.0", "title": "hiatus hernia", "chapter": "Diseases of the digestive system", "primary": true}]}, "year": 2017, "classification": "Gastrointestinal disorders"}
+{"pmid": "28468771", "patient_info": {"basic_info": "A 16-year-old girl presented with sudden onset severe central abdominal and left shoulder pain. She had a one-year history of intermittent generalized abdominal pain associated with early satiety and nausea after eating. On examination, she was tachycardic at 120 beats/min and had a firm, tender mass in the epigastrium. Laboratory tests showed normocytic anemia (hemoglobin 84 g/L, normal range 12-16) and elevated neutrophil count of 15×10^9/L (normal range 1.8-8). Upon direct questioning, the patient admitted to a history of chewing her hair, though she claimed to have stopped this behavior nearly a year before presentation.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/28468771/fig/1.jpg"], "caption": "(A) Chest radiograph, erect position. (B) CT of the abdomen and pelvis, coronal view, with oral contrast.", "detailed_caption": "(A) Erect chest radiograph. (B) Computed tomography image (coronal view) of abdomen and pelvis with oral contrast", "modalities": ["x-ray", "ct"]}], "diagnosis": "Perforation of the stomach secondary to a giant trichobezoar", "standardized_diagnosis": [{"original_term": "Gastric perforation", "corrected_term": null, "code": "ME24.3Y", "title": "Perforation of stomach", "chapter": "Symptoms, signs or clinical findings, not elsewhere classified", "primary": true}, {"original_term": "Trichobezoar", "corrected_term": null, "code": "ND73.20", "title": "Trichobezoar", "chapter": "Injury, poisoning or certain other consequences of external causes", "primary": false}]}, "year": 2017, "classification": "Gastrointestinal disorders"}
+{"pmid": "28379797", "patient_info": {"basic_info": "A 60-year-old woman with type 1 diabetes mellitus presented for preoperative evaluation before cataract surgery, reporting only mild fatigue. Her medical history included diabetic retinopathy, hypertension, hyperlipidemia, gastroesophageal reflux, and a nontraumatic stress fracture in her right foot. Medications included insulin (via pump), olmesartan, ezetimibe plus simvastatin, omeprazole, aspirin, and self-prescribed iron sulfate for leg cramps. On examination, she was afebrile with BP 122/64 mmHg, heart rate 84/min, respiratory rate 20/min, and oxygen saturation 97% on room air. She had cataracts in both eyes but otherwise normal physical examination. Laboratory testing showed hemoglobin 10.4 g/dL (down from 12.0 g/dL 6 months prior), WBC 4200/mm3, platelets 286,000/mm3, normal electrolytes, glucose 129 mg/dL, creatinine 1.9 mg/dL (up from 1.0 mg/dL 3 years prior), calcium 11.9 mg/dL (up from 8.9 mg/dL 3 years prior), albumin 4.6 g/dL, total protein 7.4 g/dL, normal liver function tests, and HbA1c 7.1%. The patient later reported weight loss of 16 kg over 9 months, fatigue, and occasional nondrenching sweats. Additional testing showed PTH 11 pg/mL (low), undetectable PTH-related protein, 25-hydroxyvitamin D 27 ng/mL (low), and normal serum/urine protein electrophoresis.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A,B", "path": ["images/28379797/fig/1.jpg"], "caption": "(A) Skull radiograph. (B) Femur radiograph.", "detailed_caption": "Panel A shows a skull radiograph, and Panel B a femur radiograph. Lytic bony lesions are indicated by radio-graphic lucencies (arrows) in the parietal skull and femoral shaft.", "modalities": ["x-ray"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/28379797/fig/2.jpg"], "caption": "PET-CT of the calvarium, spine, pelvis, ribs, and proximal right femur, SUV range 3.9–7.5; PET-CT of the chest.", "detailed_caption": "PET-CT revealed innumerable, predominantly lytic, widespread bone lesions in calvarium, spine, pelvis, ribs, and proximal right femur with high metabolic activity (SUV 3.9-7.5). Also showed small pulmonary nodules and bilateral hilar lymphadenopathy.", "modalities": ["ct", "pet/spect/nuclear"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/28379797/fig/3.jpg"], "caption": "Biopsy specimen of the left ilium, H&E staining, low-power magnification.", "detailed_caption": "Figure 3 on page 4 presents a histopathological section of a biopsy specimen from a lytic lesion of the left ilium, prepared with hematoxylin and eosin staining and shown under low-power magnification, demonstrating well-formed, noncaseating epithelioid granulomas within the bone.", "modalities": ["pathology"]}], "diagnosis": "Osseous sarcoidosis", "standardized_diagnosis": [{"original_term": "Osseous sarcoidosis", "corrected_term": null, "code": "4B20.Y", "title": "osseous sarcoidosis", "chapter": "Diseases of the immune system", "primary": true}]}, "year": 2017, "classification": "Infectious and immunologic disorders"}
+{"pmid": "28620010", "patient_info": {"basic_info": "95-year-old woman admitted after a fall. Medical history includes Alzheimer's disease, hypertension, and type 2 diabetes mellitus (on metformin). Laboratory findings showed elevated white cell count and C reactive protein levels. Urine culture revealed Klebsiella pneumoniae infection. Blood cultures were negative.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/28620010/fig/1.jpg"], "caption": "Pelvis radiograph.", "detailed_caption": "Pelvis radiograph showing ring of radiolucent gas with central mottled lucencies in the expected location of the bladder, and a right femoral neck fracture", "modalities": ["x-ray"]}], "diagnosis": "Right femoral neck fracture with incidental finding of emphysematous cystitis", "standardized_diagnosis": [{"original_term": "Right femoral neck fracture", "corrected_term": null, "code": "NC72.2Z&XK9K", "title": "Fracture of neck of femur[Right]", "chapter": "Injury, poisoning or certain other consequences of external causes", "primary": true}, {"original_term": "Emphysematous cystitis", "corrected_term": null, "code": "GC00.1", "title": "Emphysematous cystitis", "chapter": "Diseases of the genitourinary system", "primary": false}]}, "year": 2017, "classification": "Orthopedic and connective tissue disorders"}
+{"pmid": "28593862", "patient_info": {"basic_info": "2-year-old girl; normal height and weight for age; presented with massive swelling of left femur that grew rapidly over 3 weeks prior to presentation. Medical history included one previous forearm fracture 5 months ago and mild trauma to left femur 4 weeks ago suspicious of a fissure. In pain at presentation. No other skeletal abnormalities noted.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/28593862/fig/1.jpg"], "caption": "Radiograph at first presentation.", "detailed_caption": "Radiograph at first presentation showing large dense mass and hyperdense line typical of osteogenesis imperfecta type 5 at distal metaphysis", "modalities": ["x-ray"]}], "diagnosis": "Osteogenesis imperfecta type 5", "standardized_diagnosis": [{"original_term": "Osteogenesis imperfecta type 5", "corrected_term": null, "code": "LD24.K0", "title": "Osteogenesis imperfecta type 5", "chapter": "Developmental anomalies", "primary": true}]}, "year": 2017, "classification": "Genetic and congenital disorders"}
+{"pmid": "28642236", "patient_info": {"basic_info": "15-year-old boy presented after injuring his left knee while carrying a tray of food at a fast food restaurant. He felt his knee 'wobble' and fell to the floor, unable to bear weight due to pain. Medical history included chronic fatigue syndrome. Had a Beighton score of 6 (indicating joint laxity) but no history of joint dislocations. On examination: laterally dislocated patella, moderate effusion, pain on palpation around medial patellofemoral ligament, range of movement reduced to extension-flexion of 0/10/60 degrees, ligamentous tests unremarkable. Two weeks later: complained of intermittent locking in left knee, had joint effusion and palpable loose body under patella.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/28642236/fig/1.jpg"], "caption": "Anteroposterior and lateral radiographs of the knee obtained after patella reduction.", "detailed_caption": "Initial anteroposterior and lateral radiographs after patella reduction showed lipohaemarthrosis and an osteochondral fragment", "modalities": ["x-ray"]}], "diagnosis": "Patellar dislocation with osteochondral fracture", "standardized_diagnosis": [{"original_term": "Patellar dislocation", "corrected_term": null, "code": "NC93.1Z", "title": "patellar dislocation", "chapter": "Injury, poisoning or certain other consequences of external causes", "primary": true}, {"original_term": "Osteochondral fracture", "corrected_term": null, "code": "NC92.0", "title": "Osteochondral fracture of patella", "chapter": "Injury, poisoning or certain other consequences of external causes", "primary": false}]}, "year": 2017, "classification": "Orthopedic and connective tissue disorders"}
+{"pmid": "28539307", "patient_info": {"basic_info": "A 66-year-old woman presented to the emergency department with episodes of palpitations, dizziness, and near fainting that had lasted for a few hours. Her medical history included removal of a left atrial myxoma 15 years ago, after which she experienced recurrent atrial tachycardia managed with modified release verapamil 240 mg once daily. She had recently started sotalol 120 mg twice daily in addition to verapamil and underwent direct current cardioversion for persistent atrial tachycardia one week prior to presentation. Initial workup showed normal urea and electrolytes including magnesium. An echocardiogram revealed normal left ventricular systolic function with no recurrence of left atrial myxoma.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/28539307/fig/1.jpg"], "caption": "Electrocardiogram on presentation.", "detailed_caption": "Electrocardiogram on presentation showed features consistent with torsade de pointes (polymorphic ventricular tachycardia with gradual change in QRS amplitude and twisting of QRS around the isoelectric line because of a prolonged QT interval)", "modalities": ["electrophysiology"]}], "diagnosis": "Drug-induced torsade de pointes due to sotalol-induced QT prolongation", "standardized_diagnosis": [{"original_term": "Drug-induced torsade de pointes", "corrected_term": null, "code": "BC71.01", "title": "Torsade de pointes", "chapter": "Diseases of the circulatory system", "primary": true}, {"original_term": "Drug-induced QT prolongation", "corrected_term": null, "code": "EH6Z", "title": "Drug-induced eruptions", "chapter": "Diseases of the skin", "primary": false}]}, "year": 2017, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "28609516", "patient_info": {"basic_info": "A 71-year-old man presented with a 4-week history of diffuse rash and 1-week history of bilateral elbow and knee pain. He had a past medical history of recurrent diverticulitis complicated by colovesical fistula, and had undergone sigmoid colon resection with fistula repair six weeks prior to presentation. His other medical conditions included glaucoma, gastroesophageal reflux disease, and osteoarthritis. He reported no fever, abdominal pain, dysuria, or urinary frequency. On physical examination, he was afebrile and normotensive with a pulse of 88/min. The abdomen was nontender with a healed postoperative scar, and cardiopulmonary and musculoskeletal examinations were unremarkable. Laboratory tests revealed normal blood cell counts and normal renal and hepatic panels. Urinalysis showed microscopic hematuria (6-10 red blood cells) and 1+ proteinuria, with a spot urine protein-to-creatinine ratio of 1.17 mg/mg creatinine.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/28609516/fig/1.jpg"], "caption": "(A) Clinical photograph of cutaneous findings on the lower abdomen. (B) Punch biopsy of lower abdomen rash, H&E staining, 200× magnification.", "detailed_caption": "Left image shows cutaneous findings with erythematous rash characterized by palpable purpura and petechiae. Right image shows punch biopsy of rash on lower abdomen (hematoxylin-eosin, ×200) demonstrating leukocytoclastic vasculitis.", "modalities": ["clinical", "pathology"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/28609516/fig/2.jpg"], "caption": "Direct immunofluorescence of punch biopsy.", "detailed_caption": "Direct immunofluorescence of punch biopsy showing intravascular IgA deposits within papillary dermal blood vessels (indicated by arrowheads).", "modalities": ["pathology"]}], "diagnosis": "IgA vasculitis (adult-onset Henoch-Schönlein purpura [HSP])", "standardized_diagnosis": [{"original_term": "IgA vasculitis", "corrected_term": null, "code": "4A44.92", "title": "IgA vasculitis", "chapter": "Diseases of the skin", "primary": true}, {"original_term": "Henoch-Schönlein purpura", "corrected_term": null, "code": "4A44.92", "title": "Henoch-Schönlein purpura", "chapter": "Diseases of the skin", "primary": false}]}, "year": 2017, "classification": "Infectious and immunologic disorders"}
+{"pmid": "28467866", "patient_info": {"basic_info": "An 82-year-old man presented to the emergency department with a 6-month history of worsening back and left hip pain. The pain did not radiate down his legs but occasionally woke him from sleep, was worse after activity, and did not improve with bending forward. He reported no morning stiffness, fever, chills, or night sweats. He had lost 9 kg (20 lb) over the preceding few months and had no bowel or bladder incontinence. His pain began after respiratory symptoms resolved from pneumonia treated with levofloxacin. His medical history included sick sinus syndrome with pacemaker placement, diastolic heart failure, pulmonary fibrosis, hyperlipidemia, hypertension, gout, herpes zoster with postherpetic neuralgia, and basal-cell carcinoma. He was retired university professor, former cigar smoker (quit 28 years prior), and traveled extensively internationally including to Thailand, Malaysia, Venezuela, Belize, Nicaragua, Australia, New Zealand, and throughout the United States, residing in Boston during summers and Arizona during winters. On examination, he appeared in no acute distress with temperature 37.1°C, blood pressure 110/60 mm Hg, pulse 60 beats per minute, respiratory rate 16 breaths per minute, and oxygen saturation 98% on ambient air. He had no point tenderness over his spine or sacroiliac joints, normal bilateral hip examination, no neurologic deficits, slightly diminished patellar reflexes bilaterally, intact sensation, normal rectal tone, and negative straight-leg raising test.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/28467866/fig/1.jpg"], "caption": "(A) CT of the lumbar spine with contrast enhancement. (B) CT of the lumbar spine with contrast enhancement.", "detailed_caption": "CT scans of the lumbar spine with contrast enhancement show end-plate irregularity and destruction of the L4 and L5 vertebrae (Panel A, arrow), with a surrounding left paravertebral and ventral epidural soft-tissue collection (Panel B, arrow.)", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/28467866/fig/2.jpg"], "caption": "CT scan of the chest.", "detailed_caption": "CT scan of the chest shows multiple calcified mediastinal and hilar lymph nodes.", "modalities": ["ct"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/28467866/fig/3.jpg"], "caption": "(A) Core-needle biopsy specimen of the vertebral disk, Gomori methenamine silver staining. (B) Core-needle biopsy specimen of the vertebral disk, periodic acid-Schiff staining.", "detailed_caption": "A specimen that was obtained from a core-needle biopsy of the vertebral disk and was stained with Gomori methenamine silver (Panel A) shows a spherule (arrow) without visible budding. The same specimen, stained with periodic acid-Schiff (Panel B), also shows a spherule (arrow).", "modalities": ["pathology"]}], "diagnosis": "Coccidioidal vertebral osteomyelitis (disseminated coccidioidomycosis)", "standardized_diagnosis": [{"original_term": "Coccidioidal vertebral osteomyelitis", "corrected_term": null, "code": "FA90.Z", "title": "osteomyelitis of vertebra", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": true}, {"original_term": "Disseminated coccidioidomycosis", "corrected_term": null, "code": "1F25.10", "title": "Disseminated coccidioidomycosis", "chapter": "Certain infectious or parasitic diseases", "primary": false}]}, "year": 2017, "classification": "Infectious and immunologic disorders"}
+{"pmid": "28705904", "patient_info": {"basic_info": "A 20-year-old woman with a history of asthma presented to the emergency department with shortness of breath and sharp pains in her chest and neck. The pain worsened on deep inspiration. She had a cough producing small amounts of whitish sputum. She had experienced several previous asthma exacerbations and had not been using her inhalers regularly. On examination, her airway was patent with a generalized moderate wheeze in her chest, but no other obvious clinical signs. She could speak in full sentences and had normal oxygen saturations and temperature. She was mildly tachycardic and appeared slightly anxious. Blood tests showed a mild neutrophilia and elevated C reactive protein.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/28705904/fig/1.jpg"], "caption": "Chest radiograph.", "detailed_caption": "Chest radiograph showed air surrounding the mediastinal vessels, most obvious at the left mediastinal edge between the aortic knuckle and atria. The 'continuous diaphragm sign' was visible, showing a continuous border of the diaphragm where it would usually be obscured by the left heart border.", "modalities": ["x-ray"]}], "diagnosis": "Spontaneous pneumomediastinum", "standardized_diagnosis": [{"original_term": "Spontaneous pneumomediastinum", "corrected_term": null, "code": "CB40.3", "title": "pneumomediastinum", "chapter": "Diseases of the respiratory system", "primary": true}]}, "year": 2017, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "28591527", "patient_info": {"basic_info": "A 14-year-old boy presented to the emergency department with acute fear of choking while swallowing that began 2 days before admission after choking on chicken during dinner. He became fearful of swallowing, vomited after trying to eat ice cream, and reduced his daily fluid intake to only 710 ml of water. Nine days earlier, his mother reported episodes of inspiratory stridor during sleep over the past few weeks. On the day of presentation, he consumed only small sips of water and slept most of the day. His birth history included delivery at full term with nuchal cord, birth weight 3.6 kg, and Apgar scores of 2, 6, and 9 at 1, 5, and 10 minutes respectively, requiring initial resuscitation. He had a history of infantile gastroesophageal reflux, milk-protein allergy, and received sensory-integration training during childhood. Immunizations were incomplete after age 2.5 years due to parental refusal. He had keratosis pilaris and eczema, took no medications, and had no known allergies. Family history included a younger brother with autism spectrum disorder, PANDAS, and vitamin D deficiency. Physical examination revealed an alert, anxious-appearing boy with persistent involuntary burping and evidence of drooling. Vital signs showed temperature 36.1°C, blood pressure 127/64 mmHg, pulse 67 bpm, respiratory rate 18 bpm, weight 54.1 kg (60th percentile), and height 160 cm (32nd percentile). He had dry oral mucosa, was Tanner stage 4, and had normal cranial nerve examination (II-XII), clear speech, normal gait, strength, sensation, and deep-tendon reflexes. On subsequent examination, he had hypertonic leg muscles and a mildly positive Chvostek's sign on the left side.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/28591527/tab/1.jpg"], "caption": "Laboratory results. Urine studies.", "detailed_caption": "Laboratory results showed severe hypocalcemia (calcium 5.4 mg/dl, reference range 8.5-10.5), profound hyperphosphatemia (phosphorus 10.6 mg/dl, reference range 3.0-4.5), normal electrolytes (sodium 136 mmol/liter, potassium 4.0 mmol/liter, chloride 94 mmol/liter), normal renal function (creatinine 0.70 mg/dl), normal glucose (82 mg/dl), normal magnesium (1.9 mg/dl), markedly elevated parathyroid hormone (310 pg/ml, reference range 10-60), and elevated thyrotropin (7.69 μU/ml, reference range 0.40-5.00) with normal free thyroxine (1.4 ng/dl). Urine studies showed sodium 161 mmol/liter, calcium 0.9 mg/dl, and phosphorus 63.0 mg/dl.", "modalities": ["lab"]}, {"type": "fig", "id": 1, "subfig": "C", "path": ["images/28591527/fig/2.jpg"], "caption": "Genetic analysis: methylation-specific MLPA of GNAS exons AS, XL, A/B, and NESP.", "detailed_caption": "Methylation-specific MLPA analysis revealed abnormal GNAS methylation with loss of methylation at GNAS exons AS, XL, and A/B and gain of methylation at GNAS exon NESP, while the patient's mother showed normal methylation at all four differentially methylated regions.", "modalities": ["genetic"]}], "diagnosis": "Pseudohypoparathyroidism type 1b", "standardized_diagnosis": [{"original_term": "Pseudohypoparathyroidism type 1b", "corrected_term": null, "code": "5A50.1", "title": "Pseudohypoparathyroidism type 1B", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": true}]}, "year": 2017, "classification": "Endocrine and metabolic disorders"}
+{"pmid": "28514603", "patient_info": {"basic_info": "A 27-year-old woman of European descent presented with a 5-month history of waxing and waning skin lesions, beginning with a painful erythematous papule on her chin that progressed to coalescing plaques. Additional similar lesions developed on both forearms, with some producing white fluid drainage. She also reported a 2-month history of episodic vulvovaginal ulcers, occasional nausea, myalgias, and intermittent fatigue. Her travel history included 2 months in Morocco and 2 months in Thailand 11 months prior, with recent travel to Jordan. She had a history of attention-deficit disorder and was taking birth control pills. Physical examination revealed a temperature of 36.5°C, blood pressure 90/52 mmHg, pulse 66 beats per minute, and BMI of 24.9. On her left chin was a 2-cm area of faded erythema with a depressed, atrophic plaque. Each forearm had a 5-cm, well-demarcated, depressed, atrophic plaque with no ulceration. Two 2-mm ulcers were present on the right labium minus and vaginal fourchette. Four weeks later, she developed fatigue and weakness in the left arm with numbness and tingling, and radial pulses were not palpable in either arm despite warm hands with normal skin color.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/28514603/tab/1.jpg"], "caption": "Laboratory results.", "detailed_caption": "Laboratory results showed anemia with hematocrit 31% (reference 41-53%) and hemoglobin 9.5 g/dl (reference 13.5-17.5%), thrombocytosis with platelet count 685,000 per mm³ (reference 150,000-400,000), and elevated total alkaline phosphatase 244 U/liter (reference 30-100). White cell count was 8.8 per mm³ with neutrophils 56.6%, lymphocytes 33.6%, and mean corpuscular volume 79.2 fl.", "modalities": ["lab"]}, {"type": "tab", "id": 2, "subfig": null, "path": ["images/28514603/tab/2.jpg"], "caption": "Laboratory serologic testing for Bartonella henselae and quintana, Brucella IgG and IgM, Coxiella burnetii, Chlamydia pneumoniae and psittaci, Coccidioides immitis (including urinary antigen), cryptococcal blood antigen, Histoplasma capsulatum (antibodies and antigens), Blastomyces dermatitidis urinary antigen, and Francisella tularensis antibodies.", "detailed_caption": "Extensive infectious disease serologic testing was negative, including Bartonella henselae and quintana antibodies, Brucella IgG and IgM antibodies, Coxiella burnetii antibodies, Chlamydia pneumoniae and psittaci antibodies, Coccidioides immitis antibodies and urinary antigen, cryptococcal blood antigen, Histoplasma capsulatum antibodies and antigens, Blastomyces dermatitidis urinary antigen, and Francisella tularensis antibodies.", "modalities": ["lab"]}, {"type": "fig", "id": 1, "subfig": null, "path": ["images/28514603/fig/3.jpg"], "caption": "(A) Skin biopsy, H&E staining, superficial dermis. (B) Skin biopsy, H&E staining, higher magnification.", "detailed_caption": "Hematoxylin and eosin staining shows a granulomatous infiltrate in the superficial dermis (Panel A). At higher magnification, scattered neutrophils, eosinophils, and giant cells are seen (Panel B).", "modalities": ["pathology"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/28514603/fig/4.jpg"], "caption": "(A) Contrast-enhanced CT scan of the upper thorax, axial view. (B) T2-weighted MRI scan of the upper thorax, axial view. (C) Contrast-enhanced, three-dimensional magnetic resonance angiogram of the heart and aortic arch. (D) Contrast-enhanced MRI scan of the upper thorax, coronal view, delayed phase.", "detailed_caption": "An axial, contrast-enhanced CT scan of the upper thorax (Panel A) shows wall thickening of the left subclavian artery and surrounding fat stranding (arrow), with no opacification (arrowhead). An axial, T₂-weighted MRI scan obtained at the same level (Panel B) confirms the absence of flow in the left subclavian artery (arrowhead) and shows that the wall is thickened, edematous, and surrounded by soft-tissue edema (arrow). A contrast-enhanced, three-dimensional magnetic resonance angiogram of the heart and aortic arch (Panel C) shows occlusion of the left subclavian artery at the origin (arrow). A coronal, delayed, contrast-enhanced MRI scan (Panel D) shows wall thickening and enhancement of the left subclavian artery (arrow).", "modalities": ["ct", "mri", "angiography"]}], "diagnosis": "Takayasu's arteritis", "standardized_diagnosis": [{"original_term": "Takayasu's arteritis", "corrected_term": null, "code": "4A44.1", "title": "Takayasu arteritis", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": true}]}, "year": 2017, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "28642817", "patient_info": {"basic_info": "53-year-old male with stage IV adenocarcinoma of the lung with no predictive genetic abnormalities (no EGFR mutation, no ALK or ROS1 translocation). Initial CT showed multiple bilateral pulmonary nodules, masses in mediastinal lymph nodes, liver, and ribs. No history of auto-immune disorders. Pre-treatment blood work showed positive antinuclear anti-SSA/Ro and anti-SSB/La antibodies (>240 U/mL, reference <10 U/mL). Serological testing for HIV, hepatitis B and C virus infections were negative.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "a", "path": ["images/28642817/fig/1.jpg"], "caption": "MRI of the parieto-temporal region, T1-weighted imaging with gadolinium contrast.", "detailed_caption": "MRI shows parieto-temporal lesion with T1 weighted imaging after Gadolinium-containing contrast material", "modalities": ["mri"]}, {"type": "tab", "id": 1, "subfig": null, "path": ["images/28642817/tab/2.jpg"], "caption": "NGS analysis of primary tumor.", "detailed_caption": "NGS analysis from primary tumor showed mutations in multiple genes including ATM, TP53, and NOTCH1 among others", "modalities": ["genetic"]}], "diagnosis": "Stage IV adenocarcinoma of the lung with brain metastases and pre-existing high titers of antinuclear antibodies", "standardized_diagnosis": [{"original_term": "Adenocarcinoma of the lung", "corrected_term": null, "code": "2C25.0", "title": "lung adenocarcinoma", "chapter": "Diseases of the respiratory system", "primary": true}, {"original_term": "Brain metastases", "corrected_term": null, "code": "2D50", "title": "brain metastases", "chapter": "Neoplasms", "primary": false}, {"original_term": "Elevated antinuclear antibody titer", "corrected_term": null, "code": "MA14.1C", "title": "increased antibody titre", "chapter": "Symptoms, signs or clinical findings, not elsewhere classified", "primary": false}]}, "year": 2017, "classification": "Neoplastic diseases"}
+{"pmid": "28669644", "patient_info": {"basic_info": "A 24-year-old male presented with identical isolated skin lesions on the right shoulder, left knee, and left ankle. The patient was febrile (38.5°C) with tender generalized lymphadenopathy. His medical history included 5 years of regular tetrahydrocannabinol (THC) use and occasional ecstasy use. Two weeks prior, he had taken methylenedioxypyrovalerone (MDPV), experienced a psychotic episode where he stripped naked and wandered through a forest, sleeping on straw. He had no personal history of atopy, though his sister had dermatitis. Investigation for immunosuppressive causes (HIV, lymphoma, diabetes, malnutrition) were negative. Small amounts of orthopoxvirus DNA were detected in serum by PCR analysis.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/28669644/fig/1.jpg"], "caption": "Clinical photograph of the right groin.", "detailed_caption": "Clinical image shows cowpox virus skin infection on the right groin with hemorrhagic partially ulcerated nodules and surrounding inflammation.", "modalities": ["clinical"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/28669644/fig/2.jpg"], "caption": "Ultrathin section electron microscopy of skin biopsy.", "detailed_caption": "Ultrathin section electron microscopy of skin biopsy showing orthopox-like virions located in a cytoplasmic virus factory of the infected cell.", "modalities": ["pathology"]}], "diagnosis": "Generalized cowpox virus infection", "standardized_diagnosis": [{"original_term": "Generalized cowpox virus infection", "corrected_term": null, "code": "1E72", "title": "Cowpox", "chapter": "Diseases of the skin", "primary": true}]}, "year": 2017, "classification": "Dermatologic and mucosal diseases"}
+{"pmid": "28522610", "patient_info": {"basic_info": "A 45-year-old man with a history of dyslipidemia presented to the emergency department with chest pain. He woke up one hour earlier with burning, pressure-like substernal chest pain radiating to his left arm with associated nausea. He denied dyspnea, diaphoresis, or lightheadedness. The pain was constant, not worse with exertion, and not relieved by antacid medication. He managed his dyslipidemia with diet and exercise and took no prescription medications. Family history was notable for coronary artery disease in his father. He denied smoking cigarettes and drug use, and was physically active in martial arts. On examination, his blood pressure was 160/101 mm Hg, and his cardiovascular and respiratory examinations were unremarkable. Initial lab showed elevated serum creatine kinase of 1942 U/L (reference range 47-171 U/L).", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/28522610/fig/1.jpg"], "caption": "ECG.", "detailed_caption": "ECG showed sinus arrhythmia with first degree heart block, ST segment elevations in inferior leads (II, III, and aVF), and ST segment depressions in right precordial leads (V1 and V2)", "modalities": ["electrophysiology"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/28522610/fig/2.jpg"], "caption": "(A) Coronary angiogram of the right coronary artery before thrombectomy. (B) Coronary angiogram of the right coronary artery after thrombectomy.", "detailed_caption": "Coronary angiogram before (left) and after (right) thrombectomy. The white arrowhead indicates the location of luminal thrombus at one of the aneurysmal segments, shown by a lack of contrast beyond the vessel segment. The yellow arrowhead in the mid-right coronary artery indicates the site of aneurysm with restoration of distal flow following thrombectomy beyond the aneurysmal segment, as noted by the contrast-filled right coronary artery lumen. RCA: right coronary artery", "modalities": ["angiography"]}], "diagnosis": "Acute inferior wall myocardial infarction due to coronary artery aneurysm with acute intracoronary thrombosis", "standardized_diagnosis": [{"original_term": "Acute inferior wall myocardial infarction", "corrected_term": null, "code": "BA41.Z&XA3RM8", "title": "Acute myocardial infarction[inferior wall NOS]", "chapter": "Diseases of the circulatory system", "primary": true}, {"original_term": "Coronary artery aneurysm", "corrected_term": null, "code": "BA81", "title": "Coronary artery aneurysm", "chapter": "Diseases of the circulatory system", "primary": false}, {"original_term": "Acute intracoronary thrombosis", "corrected_term": null, "code": "BA41.Z", "title": "coronary thrombosis", "chapter": "Diseases of the circulatory system", "primary": false}]}, "year": 2017, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "28489991", "patient_info": {"basic_info": "A 20-year-old man was seen at an outpatient clinic for pain and swelling of his left calf and a purpuric rash. He had a history of Crohn's disease diagnosed at age 10 which had required prolonged glucocorticoid treatment, with clinical improvement over the previous 3 years with weekly adalimumab therapy that accompanied a growth spurt. The patient had been well until 3 weeks prior to presentation when he developed sore throat, nonproductive cough, rhinorrhea, and chills. Two weeks before presentation, he traveled to the northwestern United States for backpacking and developed cramping left calf pain that worsened over 2 days with associated swelling that progressed from the calf to the foot, and an erythematous rash developed on the dorsum of both feet. He reported multiple previous self-limited episodes of similar upper respiratory symptoms over recent years. On examination, his vital signs showed temperature 36.2°C, blood pressure 118/70 mm Hg, pulse 70 beats per minute, respiratory rate 16 breaths per minute, and oxygen saturation 97% on room air. He appeared uncomfortable due to left leg pain. The nasal septum was intact. He had left ankle synovitis and normal peripheral pulses.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/28489991/fig/1.jpg"], "caption": "Clinical photograph.", "detailed_caption": "Clinical photograph showing areas of crusting around both nares that developed three weeks before hospital presentation", "modalities": ["clinical"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/28489991/fig/2.jpg"], "caption": "(A) Clinical photograph of the left lower leg from calf to dorsal foot. (B) Clinical photograph of both lower legs. (C) Clinical photograph above the right medial malleolus.", "detailed_caption": "Clinical photographs showing tenderness and swelling of left lower leg from calf to dorsal foot (Panel A), nontender palpable purpuric lesions on both lower legs but more numerous on the left (Panel B), and two tender 1-cm diameter nodules with overlying erythema above the right medial malleolus (Panel C)", "modalities": ["clinical"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/28489991/fig/3.jpg"], "caption": "(A) Skin biopsy specimen from the left ankle, H&E staining. (B, C) Skin biopsy specimen from the left ankle, H&E staining. (D) Skin biopsy specimen from the left ankle, H&E staining.", "detailed_caption": "Skin-Biopsy Specimen from the Left Ankle (Hematoxylin and Eosin). A superficial and mid-dermal perivascular inflammatory infiltrate is shown (Panel A). It is composed predominantly of neutrophils, and there is prominent leukocytoclasis and erythrocyte extravasation (Panels B and C). Focal fibrinoid necrosis of the vessel walls is present (Panel D, arrow). These findings are consistent with the diagnosis of leukocytoclastic vasculitis.", "modalities": ["pathology"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/28489991/fig/4.jpg"], "caption": "(A, B) Immunohistochemistry for IgA. (C) Immunohistochemistry for C3. (D) Immunohistochemistry for fibrin.", "detailed_caption": "Positive immunoreactivity for IgA (Panels A and B), C3 (Panel C), and fibrin (Panel D) is present in a granular, perivascular pattern. This pattern of staining is consistent with the diagnosis of IgA vasculitis.", "modalities": ["pathology"]}], "diagnosis": "IgA vasculitis", "standardized_diagnosis": [{"original_term": "IgA vasculitis", "corrected_term": null, "code": "4A44.92", "title": "IgA vasculitis", "chapter": "Diseases of the skin", "primary": true}]}, "year": 2017, "classification": "Infectious and immunologic disorders"}
+{"pmid": "28729374", "patient_info": {"basic_info": "A 26-year-old man presented to the emergency department with a painful and swollen right hand after punching a wall the previous night. He was previously fit and well with no substantial medical history. On examination, his hand was swollen and bruised with no open wound present. He had tenderness over the dorsum of the hand, particularly over the fifth metacarpal. There was no obvious deformity, scissoring, or malrotation of the fingers, but he was unable to make a full fist due to pain. On extension, there was an extensor lag of the little finger.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/28729374/fig/1.jpg"], "caption": "(A) Radiograph of the right hand, anterior-posterior view. (B) Radiograph of the right hand, oblique view. (C) Radiograph of the right hand, lateral view.", "detailed_caption": "Radiographs of the patient's right hand showing anterior-posterior, oblique, and lateral views revealing a closed fracture to the neck of the fifth metacarpal with approximately 50° of volar angulation", "modalities": ["x-ray"]}], "diagnosis": "Closed fracture to the neck of the fifth metacarpal of his right hand, also known colloquially as a 'boxer's fracture'", "standardized_diagnosis": [{"original_term": "Closed fracture of neck of fifth metacarpal bone", "corrected_term": null, "code": "NC53.31&XA16Y6", "title": "Fracture of neck of other metacarpal bone[Neck of the fifth metacarpal bone]", "chapter": "Injury, poisoning or certain other consequences of external causes", "primary": true}]}, "year": 2017, "classification": "Orthopedic and connective tissue disorders"}
+{"pmid": "28751495", "patient_info": {"basic_info": "A 62-year-old man presented with palpitations occurring four times in the last week. He experienced a fast heartbeat and shortness of breath. The symptoms varied in timing and duration, with two episodes following alcohol intake. He denied chest pain or syncope. His medical history included hypertension treated with amlodipine. On physical examination, his blood pressure was 160/90 mm Hg with a regular heart rate of 82 beats/minute. Heart sounds and respiratory examination were normal.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/28751495/fig/1.jpg"], "caption": "(A) Holter monitoring report, general summary. (B) 3-lead ECG recording from Holter monitoring.", "detailed_caption": "Holter monitoring report showing A) general summary of the recorded information and concluding on the presence of two episodes of paroxysmal atrial fibrillation. B) representative 3-lead ECG of atrial fibrillation in the same patient", "modalities": ["electrophysiology"]}], "diagnosis": "Paroxysmal atrial fibrillation", "standardized_diagnosis": [{"original_term": "Paroxysmal atrial fibrillation", "corrected_term": null, "code": "BC81.30", "title": "Paroxysmal atrial fibrillation", "chapter": "Diseases of the circulatory system", "primary": true}]}, "year": 2017, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "28619707", "patient_info": {"basic_info": "A 5-year-old girl presented with a one-day history of fever, coryzal symptoms, and multiple skin lesions. She also reported abdominal pain and had vomited once. Physical examination revealed hypotension. Blood tests revealed anaemia, thrombocytopenia, high C reactive protein, acute renal failure, and coagulopathy.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/28619707/fig/1.jpg"], "caption": "Clinical photograph of limbs and face taken at admission during initial physical examination.", "detailed_caption": "Figure 1 is a clinical photograph showing multiple petechial and purpuric lesions on the limbs and face of a five-year-old girl, taken at the time of admission during initial physical examination. The image documents the cutaneous manifestations characterized by small, non-blanching, purplish-red spots and larger areas of purpura distributed over the extremities and facial region, without subjective interpretation or procedural modification.", "modalities": ["clinical"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/28619707/fig/2.jpg"], "caption": "Clinical photograph of the lower limb skin, captured approximately 12 hours after initial presentation.", "detailed_caption": "Figure 2 is a clinical photograph showing an irregular gangrenous purpura with a central dusky necrosis surrounded by fading redness involving the skin of the lower limb, captured approximately 12 hours after initial presentation in a 5-year-old girl with rapidly evolving skin lesions consistent with severe acute infection.", "modalities": ["clinical"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/28619707/fig/3.jpg"], "caption": "Blood culture, Gram staining, Gram negative diplococcus.", "detailed_caption": "Blood culture showing a Gram negative diplococcus, which was ultimately identified as a meningococcus", "modalities": ["lab", "pathology"]}], "diagnosis": "Purpura fulminans caused by Neisseria meningitidis", "standardized_diagnosis": [{"original_term": "Purpura fulminans", "corrected_term": null, "code": "3B20", "title": "Purpura fulminans", "chapter": "Diseases of the skin", "primary": true}, {"original_term": "Meningococcal infection", "corrected_term": null, "code": "1C1C.Z", "title": "Meningococcal infection", "chapter": "Certain infectious or parasitic diseases", "primary": false}]}, "year": 2017, "classification": "Infectious and immunologic disorders"}
+{"pmid": "28706431", "patient_info": {"basic_info": "48-year-old male presented with 1-week history of jaundice, dark brown urine, pale stools, and nausea. Medical history and physical exam were unremarkable. Laboratory findings showed hepatic panel in cholestatic pattern: total bilirubin 117 μmol/L, conjugated bilirubin 66.8 μmol/L, alkaline phosphatase 173 IU/L, γ-Glutamyltransferase 380 IU/L, Alanine transaminase 468 IU/L. CA19-9 was 11783 IU/mL. Lactate dehydrogenase (LDH) and β2-microglobulin were normal.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/28706431/fig/1.jpg"], "caption": "CT of the abdomen.", "detailed_caption": "Abdominal CT scan showed a 4.2 cm × 4.1 cm hypodense mass within the pancreatic head and enlargement of several mesenteric and retroperitoneal lymph nodes", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/28706431/fig/2.jpg"], "caption": "Histopathological section of the pancreatic mass, H&E staining, 20× magnification.", "detailed_caption": "Figure 2 displays a histopathological section of the pancreatic mass using hematoxylin and eosin (H&E) staining at ×20 magnification, showing large atypical lymphoid cells scattered among small reactive lymphocytes and less frequently histiocytes.", "modalities": ["pathology"]}, {"type": "fig", "id": 3, "subfig": "A-D", "path": ["images/28706431/fig/3.jpg"], "caption": "(A) Immunohistochemistry, CD20 staining. (B) Immunohistochemistry, CD3 staining. (C) Immunohistochemistry, CD68 staining. (D) Immunohistochemistry, Ki-67 staining.", "detailed_caption": "Immunohistochemistry studies showed: A) Dispersed CD20 positive large B cells, B) Numerous CD3 positive small T cells in background, C) CD68 positive histiocytes in background, D) Ki-67 expression of neoplastic cells", "modalities": ["pathology"]}], "diagnosis": "Primary pancreatic T-cell/histiocyte-rich large B-cell lymphoma (T/HRBCL)", "standardized_diagnosis": [{"original_term": "Primary pancreatic T-cell/histiocyte-rich large B-cell lymphoma", "corrected_term": null, "code": "2A81.4", "title": "T-cell/histiocyte rich large B-cell lymphoma", "chapter": "Neoplasms", "primary": true}]}, "year": 2017, "classification": "Neoplastic diseases"}
+{"pmid": "28472977", "patient_info": {"basic_info": "This is a two-year-four-month-old female, born by a primigravida at 39 weeks of gestation via Cesarean section due to placenta failure. She displayed features of intrauterine growth restriction (IUGR) with birth weight of 1850g (<3 percentile), height 44.5cm (<3 percentile), and head circumference 31cm (<3 percentile). Her Apgar score at 1 minute was 9. At age three months, she was treated for suspected hypoacusis, with ABR testing revealing bilateral severe sensorineural hearing loss, requiring hearing aid placement at 4 months. Throughout infancy, she demonstrated physical developmental delay with weight and height substantially below the 3rd percentile, but normal psychomotor development - sitting at 8 months, walking at 14 months, and talking at 13 months. MRI of the central nervous system showed no abnormalities. Molecular genetic testing revealed a novel heterozygous variant c.1956dupT (p.Lys653*) in exon 15 of PIK3R1, confirmed to be a de novo mutation not present in biological parents.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/28472977/fig/1.jpg"], "caption": "Clinical photograph of the head in profile view at age two years four months.", "detailed_caption": "Figure 1 presents a clinical photograph depicting the patient's head in profile view, demonstrating dysmorphic features including a triangular-shaped face with a prominent forehead and deeply-set eyes; this image documents the external phenotype of the two-year-four-month-old female patient with SHORT syndrome at the time of clinical evaluation.", "modalities": ["clinical"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/28472977/fig/2.jpg"], "caption": "Clinical photograph, frontal view, acquired at the age of 2 years and 4 months.", "detailed_caption": "Figure 2 in this article consists of a clinical photograph showing the dysmorphic features and overall body silhouette of the patient in a front view; the image documents growth retardation and characteristic bodily features associated with SHORT syndrome in a two-year-four-month-old girl, with no special imaging modality or staining applied, and acquisition timing corresponding to the clinical assessment around the age of 2 years and 4 months.", "modalities": ["clinical"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/28472977/fig/3.jpg"], "caption": "Clinical photograph of the lumbar region taken at age two years and four months.", "detailed_caption": "Figure 3 is a clinical photograph showing the lumbar region of the patient, documenting partial lipodystrophy as observed on physical examination. This image was taken during clinical evaluation at the age of two years and four months and depicts the anatomical site of the lower back, with no specific imaging modality, staining, or magnification applied, and highlights the visible reduction of subcutaneous adipose tissue characteristic of SHORT syndrome.", "modalities": ["clinical"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/28472977/fig/4.jpg"], "caption": "Clinical photograph of the elbow region acquired during clinical evaluation.", "detailed_caption": "Figure 4 presents a clinical photograph showing the anatomical site of the elbow region, demonstrating partial lipodystrophy around the elbow in a two-year-four-month-old girl diagnosed with SHORT syndrome; the image was acquired during the patient's clinical evaluation, and no imaging or staining modalities were used.", "modalities": ["clinical"]}, {"type": "tab", "id": 1, "subfig": null, "path": ["images/28472977/tab/5.jpg"], "caption": "Table summarizing clinical features of SHORT syndrome compared with the described patient.", "detailed_caption": "Table 1 on page 5, titled \"The comparison of features typical of SHORT syndrome, with our patient's features,\" is a clinical summary table that lists hallmark features commonly found in SHORT syndrome across several organ systems and phenotypic traits. For each characteristic, the table indicates whether the manifestation was present (\"+\") or absent (\"-\") in the described patient. The table encompasses domains including development (short stature, low body weight), phenotypic traits (triangular face, prominent forehead, small chin, thin or underdeveloped nostrils, large mouth with thin downturned lips, low set ears), ocular features (Rieger anomaly, deeply-set eyes, glaucoma, cataract, myopia), dental abnormalities (delayed teething, microdontia, hypodontia, lack of protective layer), skeletal anomalies (delayed bone age, joint hyperextensibility, clinodactyly), skin/subcutaneous tissue characteristics (thin and wrinkled skin with well-visible blood vessels, lipoatrophy), neurodevelopmental findings (intelligence within normal ranges, delayed speech development), urinary system findings (nephrocalcinosis), and endocrine findings (glucose intolerance/diabetes mellitus, insulin resistance). The table shows this patient exhibits most classic dysmorphic and developmental features of SHORT syndrome, while lacking Rieger anomaly, joint hyperextensibility, clinodactyly, nephrocalcinosis, some dental anomalies, and endocrine disturbances at the time of reporting.", "modalities": ["clinical"]}], "diagnosis": "SHORT syndrome", "standardized_diagnosis": [{"original_term": "SHORT syndrome", "corrected_term": null, "code": "LD27.6Z", "title": "SHORT syndrome", "chapter": "Diseases of the skin", "primary": true}]}, "year": 2017, "classification": "Genetic and congenital disorders"}
+{"pmid": "28751318", "patient_info": {"basic_info": "An 87-year-old man presented with a one-year history of difficulty swallowing, with episodes of choking and aspiration that progressively increased in frequency. Laryngeal examination revealed extraluminal obstruction from behind. The patient had multiple comorbidities as mentioned in the case.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/28751318/fig/1.jpg"], "caption": "Video fluoroscopic swallow study.", "detailed_caption": "Video fluoroscopic swallow study showing retention of barium contrast at the epiglottis and vallecula", "modalities": ["x-ray"]}], "diagnosis": "Dysphagia secondary to oesophageal compression by anterior cervical osteophytes", "standardized_diagnosis": [{"original_term": "Dysphagia", "corrected_term": null, "code": "MD93", "title": "Dysphagia", "chapter": "Symptoms, signs or clinical findings, not elsewhere classified", "primary": true}, {"original_term": "Anterior cervical osteophytes", "corrected_term": null, "code": "FA37.0", "title": "Osteophyte", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": false}]}, "year": 2017, "classification": "Orthopedic and connective tissue disorders"}
+{"pmid": "28679498", "patient_info": {"basic_info": "34-year-old man in Scotland presented with an expanding itchy rash on the right flank that persisted for three months. He did not recall any insect bite or foreign travel history, but regularly visits the Scottish highlands. Initial Borrelia serology performed at 4 weeks after rash onset was negative.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/28679498/fig/1.jpg"], "caption": "Clinical photograph of the right flank.", "detailed_caption": "Large annular rash on the right flank covering the posterior and lateral aspects, with an erythematous raised border and central clearing", "modalities": ["clinical"]}], "diagnosis": "Lyme disease (or Lyme borreliosis) presenting as erythema migrans", "standardized_diagnosis": [{"original_term": "Lyme disease", "corrected_term": null, "code": "1C1G.Z", "title": "Lyme disease", "chapter": "Certain infectious or parasitic diseases", "primary": true}, {"original_term": "Erythema migrans", "corrected_term": null, "code": "1C1G.0", "title": "Erythema migrans", "chapter": "Diseases of the skin", "primary": false}]}, "year": 2017, "classification": "Infectious and immunologic disorders"}
+{"pmid": "28774939", "patient_info": {"basic_info": "A 22 year old man presented to the emergency department with abdominal pain, jaundice, itching, and fever. His urine was dark and stools pale. Physical examination revealed temperature of 38.7°C, icterus, abdominal tenderness worst in the right upper quadrant with negative Murphy's sign, impalpable gall bladder, inflamed oropharynx with cervical and axillary lymphadenopathy. Laboratory tests showed liver function abnormalities with alkaline phosphatase 327, aspartate aminotransferase 358, and bilirubin 109 suggesting cholestasis. White cell count was elevated at 20.8, C reactive protein was raised at 17, and platelets were low at 168. Monospot test was positive for Epstein Barr virus, confirmed by positive Epstein Barr virus serology. Hepatitis A, B, and C serology were negative.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/28774939/fig/1.jpg"], "caption": "Ultrasound of the abdomen, spleen and gallbladder, gallbladder wall thickness 10 mm.", "detailed_caption": "Ultrasound revealed splenomegaly with normal hepatopetal flow and a markedly thickened (10 mm) gallbladder wall but no gallstones or sludge. The common bile duct was not dilated.", "modalities": ["ultrasound"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/28774939/fig/2.jpg"], "caption": "Axial T2-weighted magnetic resonance cholangiopancreatography.", "detailed_caption": "Axial T2 weighted magnetic resonance cholangiopancreatography sequence confirmed oedematous gallbladder wall, absence of gallstones, normal common bile duct, and splenomegaly.", "modalities": ["mri"]}], "diagnosis": "Acute acalculous cholecystitis secondary to infectious mononucleosis", "standardized_diagnosis": [{"original_term": "Acute acalculous cholecystitis", "corrected_term": null, "code": "DC12.0Z", "title": "acute acalculous cholecystitis", "chapter": "Diseases of the digestive system", "primary": true}, {"original_term": "Infectious mononucleosis", "corrected_term": null, "code": "1D81.Z", "title": "Infectious mononucleosis", "chapter": "Diseases of the immune system", "primary": false}]}, "year": 2017, "classification": "Infectious and immunologic disorders"}
+{"pmid": "28844475", "patient_info": {"basic_info": "A 50-year-old man presented with a 3-week history of back pain and a skull mass that had been growing slowly for 7 months. Physical examination revealed a smooth, firm, and non-tender mass on his skull that gave him the appearance of having a high domed forehead. Laboratory investigations showed renal impairment, hypercalcaemia, anaemia, and immunoparesis. Lambda light chains were detected in both urine and serum. Bone marrow aspirate showed a low level infiltration of plasma cells, though the patient could not tolerate a bone marrow biopsy. A biopsy of the thoracic lesion revealed a monomorphic population of plasma cells that were strongly positive for CD138 and lambda light chain restricted.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/28844475/fig/1.jpg"], "caption": "(A) Coronal T1-weighted post-gadolinium MRI of the brain. (B) MR venogram of the brain.", "detailed_caption": "(A) Post-gadolinium coronal T1-weighted magnetic resonance (MR) scan of the brain showing a vividly enhancing soft tissue mass arising from the skull. (B) MR venogram showing the extent of the tumour vascularity.", "modalities": ["mri"]}], "diagnosis": "Multiple myeloma with extramedullary plasmacytoma", "standardized_diagnosis": [{"original_term": "Multiple myeloma", "corrected_term": null, "code": "2A83.1", "title": "multiple myeloma", "chapter": "Neoplasms", "primary": true}, {"original_term": "Extramedullary plasmacytoma", "corrected_term": null, "code": "2A83.3", "title": "Extramedullary plasmacytoma", "chapter": "Neoplasms", "primary": false}]}, "year": 2017, "classification": "Neoplastic diseases"}
+{"pmid": "28751479", "patient_info": {"basic_info": "A 74-year-old woman was referred to the general surgery clinic after discovering a lump in her lower abdomen that she had noticed 4-5 weeks previously. She reported a feeling of incomplete bowel emptying and reduced frequency of bowel movements but had no blood or mucus in her stool, no abdominal pain, no lower urinary tract symptoms, and no vaginal discharge. She had experienced a two stone (12.7 kg) weight loss over several months, which she attributed to a recent diagnosis of diabetes mellitus. Her surgical history included a total abdominal hysterectomy and bilateral salpingo-oophorectomy in 1996 for menorrhagia. On physical examination, she had a large non-tender soft swelling in the right iliac fossa with no evidence of inguinal, femoral, or pfannenstiel incisional hernia. Blood tests were unremarkable, and colonoscopy identified only mild diverticular disease.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/28751479/fig/1.jpg"], "caption": "CT of the abdomen, sagittal view, with intravenous and oral contrast.", "detailed_caption": "Sagittal slice of a computed tomogram of the abdomen with intravenous and oral contrast showing the abdominal findings.", "modalities": ["ct"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/28751479/fig/2.jpg"], "caption": "CT of the abdomen, axial view, with intravenous and oral contrast.", "detailed_caption": "Axial slice of a computed tomogram of the abdomen with intravenous and oral contrast.", "modalities": ["ct"]}], "diagnosis": "Spigelian hernia", "standardized_diagnosis": [{"original_term": "Spigelian hernia", "corrected_term": null, "code": "DD5Y&XA3KX0", "title": "Spigelian hernia", "chapter": "Diseases of the digestive system", "primary": true}]}, "year": 2017, "classification": "Orthopedic and connective tissue disorders"}
+{"pmid": "28818967", "patient_info": {"basic_info": "A 65-year-old man with a 40 pack-year smoking history presented with a one-month history of worsening breathlessness and chest discomfort on walking. He came to hospital following a collapse that occurred after self-administering sublingual glyceryl trinitrate to relieve his symptoms. He reported no history of cough or coryza, had not lost weight, and experienced no haemoptysis. Laboratory testing revealed a raised serum D-dimer level.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/28818967/fig/1.jpg"], "caption": "Chest radiograph on admission.", "detailed_caption": "Chest radiograph on admission shows reticulonodular opacities with asymmetrical or unilateral interstitial changes", "modalities": ["x-ray"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/28818967/fig/2.jpg"], "caption": "CT pulmonary angiogram, transverse section, right lung and adrenal region.", "detailed_caption": "CT pulmonary angiogram transverse section demonstrates a mass in the right upper lobe with extensive septal thickening consistent with lymphangitis carcinomatosa throughout the right lung, alongside adrenal metastasis", "modalities": ["ct", "angiography"]}], "diagnosis": "Squamous cell lung cancer staged at T4N3M1b with lymphangitis carcinomatosa", "standardized_diagnosis": [{"original_term": "Squamous cell lung cancer", "corrected_term": null, "code": "2C25.2", "title": "Squamous cell cancer of lung", "chapter": "Diseases of the respiratory system", "primary": true}, {"original_term": "Lymphangitis carcinomatosa", "corrected_term": null, "code": "2D70", "title": "lymphangitis carcinomatosa", "chapter": "Neoplasms", "primary": false}]}, "year": 2017, "classification": "Neoplastic diseases"}
+{"pmid": "28679100", "patient_info": {"basic_info": "A 52-year-old man presented with a 2-week history of exertional chest discomfort, described as a sensation of fullness in the center of his chest without radiation, and dyspnea. These symptoms were not present at rest, and he had no light-headedness or syncope. His medical history included type 2 diabetes mellitus, hypertension, dyslipidemia, and obstructive sleep apnea treated with CPAP. His father had hypertrophic cardiomyopathy, and the patient's screening echocardiogram 3 years prior showed mild left ventricular hypertrophy but otherwise normal cardiac structure and function. On examination, he was afebrile with BP 146/70 mmHg, heart rate 70/min, respiratory rate 14/min, and BMI 36.2. Physical exam showed normal jugular venous pressure, regular heart rate and rhythm with no murmurs/rubs/gallops, and normal lung and abdominal findings. His legs were warm without edema and had symmetric distal pulses. Initial laboratory findings showed WBC 10,900/mm3 (77% neutrophils, 16% lymphocytes, 6% monocytes, 2% eosinophils), normal INR, creatinine 1.6 mg/dL (baseline 1.0), BUN 15 mg/dL, sodium 135 mmol/L, potassium 5.4 mmol/L, and normal thyrotropin and troponin I levels.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/28679100/fig/1.jpg"], "caption": "ECG", "detailed_caption": "ECG showed normal sinus rhythm, right atrial abnormality, and T-wave inversion in the inferior and lateral precordial leads", "modalities": ["electrophysiology"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/28679100/fig/2.jpg"], "caption": "12-lead electrocardiogram taken at admission.", "detailed_caption": "Figure 2 in this article displays a 12-lead electrocardiogram (ECG) showing sinus bradycardia with intermittent sinus arrest and third-degree atrioventricular block; the image represents an admission ECG taken during an episode of acute hemodynamic decompensation, with limb and precordial leads demonstrating a markedly slow ventricular rate, absence of atrioventricular conduction, and periods of sinus node inactivity, without evidence of acute myocardial ischemia.", "modalities": ["electrophysiology"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/28679100/fig/3.jpg"], "caption": "ECG, heart rate 160 beats per minute, wide-complex tachycardia.", "detailed_caption": "ECG showed wide-complex tachycardia at a rate of 160 beats per minute", "modalities": ["electrophysiology"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/28679100/fig/4.jpg"], "caption": "Endomyocardial biopsy.", "detailed_caption": "Endomyocardial biopsy revealed substantial disruption of myocytes, with dense mononuclear inflammation, thickened endocardium, and multiple giant cells with nuclei localized at peripheral edges. No vasculitis or granulomas were seen. Stains for fungi and acid-fast bacilli were negative.", "modalities": ["pathology"]}], "diagnosis": "Idiopathic giant-cell myocarditis", "standardized_diagnosis": [{"original_term": "Idiopathic giant-cell myocarditis", "corrected_term": null, "code": "BC42.0", "title": "Giant cell myocarditis", "chapter": "Diseases of the circulatory system", "primary": true}]}, "year": 2017, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "28663278", "patient_info": {"basic_info": "93-year-old male with a destructive scalp squamous cell carcinoma. Presented with sudden onset aphasia. Neurological examination was otherwise unremarkable.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/28663278/fig/1.jpg"], "caption": "CT of the brain.", "detailed_caption": "Cranial CT scan shows extensive pneumocephalus (intracranial air). The frontal lobes are compressed and the interhemispheric space between the two tips of the frontal lobes shows the 'Mount Fuji' sign.", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/28663278/fig/2.jpg"], "caption": "CT of the vertex, bone window.", "detailed_caption": "CT image at the vertex (bone window) shows scalp defect with extensive full thickness bone destruction of the calvarium in the posterior left parietal region. Pockets of free intracranial air are visible.", "modalities": ["ct"]}], "diagnosis": "Pneumocephalus due to a bony defect at the level of scalp tumor", "standardized_diagnosis": [{"original_term": "Pneumocephalus", "corrected_term": null, "code": "8E7Y", "title": "pneumocephalus", "chapter": "Diseases of the nervous system", "primary": true}, {"original_term": "Scalp tumor", "corrected_term": null, "code": "2F9Z", "title": "neoplasm NOS", "chapter": "Neoplasms", "primary": false}, {"original_term": "Bony defect of skull", "corrected_term": null, "code": "LB70.Y", "title": "Localised skull defects", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": false}]}, "year": 2017, "classification": "Neurological disorders"}
+{"pmid": "28882845", "patient_info": {"basic_info": "A 35-year-old man presented with 16 kg weight loss over the months, low mood, and poor appetite, expressing concern that he might have cancer. He had a significant history of heavy alcohol consumption, drinking 500 ml of high concentration spirits daily until age 28 when he experienced an episode of acute pancreatitis five years ago, after which he completely abstained from alcohol. He was a current smoker consuming 10 cigarettes per day and had been a hepatitis B virus carrier for 10 years, taking entecavir for three years but not consistently. Physical examination revealed mild abdominal tenderness. Laboratory tests showed serum lipase of 65 U/L (normal 60 U/L), elevated aspartate amino transferase of 380 U/L (normal 0-40 U/L), elevated amino alanine transferase of 210 U/L (normal 0-40 U/L), and normal fasting blood glucose of 4.72 mmol/L (normal 3.82-6.11 mmol/L).", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/28882845/fig/1.jpg"], "caption": "CT scan of the abdomen.", "detailed_caption": "CT scan of the abdomen showing extensive high density shadow analogous to a bony structure representing a calcified suffused pancreas, suggesting advanced chronic pancreatitis.", "modalities": ["ct"]}], "diagnosis": "Advanced chronic pancreatitis", "standardized_diagnosis": [{"original_term": "Chronic pancreatitis", "corrected_term": null, "code": "DC32.Z", "title": "Chronic pancreatitis", "chapter": "Diseases of the digestive system", "primary": true}]}, "year": 2017, "classification": "Gastrointestinal disorders"}
+{"pmid": "28765568", "patient_info": {"basic_info": "An 8-year-5-month-old male patient was born at full-term to consanguineous Han parents from Gansu Province with a birth weight of 2.5 kg via normal spontaneous vaginal delivery. He displayed significant motor and cognitive developmental delay with mental retardation, never achieving head control or the ability to sit unsupported, only learning to turn over by himself at age 5. He could neither speak nor communicate with others. Physical examination revealed a myopathic face, high-arched palate, nystagmus, generalized muscle weakness, and marked hypotonia. Deep tendon reflexes were absent, both knee and ankle joint contractures were present, and the right Babinski sign was positive with left Babinski probably positive. Laboratory testing showed serum CK level of 1514 U/L.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/28765568/fig/1.jpg"], "caption": "(A) Fundus photograph of the right eye in patient 1. (B) Fundus photograph of the left eye in patient 1. (C) Fundus photograph of the ocular fundus in patient 3. (D) Fundus photograph of the ocular fundus in patient 3.", "detailed_caption": "Figure 1 presents fundus photographs of the eyes in patient 1 and patient 3. Specifically, subfigures A and B display fundus photographs of patient 1, with (A) showing the right eye (OD) demonstrating a cataract, and (B) showing the left eye (OS) revealing optic nerve atrophy and retinal dysplasia; subfigures C and D depict patient 3, with (C) and (D) showing retinal and choroidal pigment epithelium atrophy and optic nerve atrophy. The imaging modality is fundus photography, targeting the ocular fundus, and the key findings include right eye cataract, left eye optic nerve atrophy and retinal dysplasia for patient 1, and pigment epithelium atrophy along with optic nerve atrophy for patient 3 (as described in the figure caption and corroborated by the body text on page 2).", "modalities": ["ophthalmic imaging"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/28765568/fig/2.jpg"], "caption": "Brain MRI at 3 years and 6 months of age, T1-weighted and T2-weighted sequences.", "detailed_caption": "Brain MRI performed at 3 years and 6 months of age showed micropolygyria, septum pellucidum absence, corpus callosum dysplasia, cerebellum hypoplasia, and cerebellar cysts with abnormal white matter signals in T1W and T2W. The MRI also showed right microphthalmus, amotio retinae, and left eye irregular shape", "modalities": ["mri"]}, {"type": "tab", "id": 1, "subfig": null, "path": ["images/28765568/tab/3.jpg"], "caption": "NGS analysis of exons 18 and 19. current patient is referred as Patient 1.", "detailed_caption": "NGS analysis showed patient/control ratios of 0 in exons 18 and 19, indicating homozygous deletion of these exons", "modalities": ["genetic"]}], "diagnosis": "Muscle-eye-brain disease (MEB) with homozygous POMGNT1 copy number variation g.6668-8257del", "standardized_diagnosis": [{"original_term": "Muscle-eye-brain disease", "corrected_term": null, "code": "8C70.6", "title": "Muscle Eye Brain disease", "chapter": "Diseases of the nervous system", "primary": true}]}, "year": 2017, "classification": "Genetic and congenital disorders"}
+{"pmid": "29170263", "patient_info": {"basic_info": "A 35-year-old man presented with three months of progressive parasthesia affecting his right arm, leg, and torso. He complained of intermittent headaches, particularly after coughing, and episodes of vertigo. Physical examination revealed hyperreflexia and numbness in the right limbs, with preserved joint position sense.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/29170263/fig/1.jpg"], "caption": "Sagittal T2-weighted MRI of the neck and cervical spine.", "detailed_caption": "Sagittal T2 weighted MRI scan of the neck and cervical spine showed tonsillar descent", "modalities": ["mri"]}], "diagnosis": "Chiari malformation type 1", "standardized_diagnosis": [{"original_term": "Chiari malformation type 1", "corrected_term": null, "code": "LA07.4", "title": "Chiari malformation type I", "chapter": "Developmental anomalies", "primary": true}]}, "year": 2017, "classification": "Neurological disorders"}
+{"pmid": "28965716", "patient_info": {"basic_info": "A 44-year-old man with a 17-year history of tobacco and cannabis use presented with acute dyspnoea and left-sided pleuritic chest pain. He had no other medical conditions and took no regular medications. On examination, he was thin and hypoxic, with a silent, hyper-resonant left hemithorax. Laboratory results showed normal α-1 antitrypsin concentration (1.4 g/L), normal immunoglobulins, and specific IgE for Aspergillus. Spirometry revealed severe obstruction with FVC of 2.95 L (57% predicted), FEV1 of 1.37 L (34% predicted), and FEV1/FVC ratio of 59% predicted.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/28965716/fig/1.jpg"], "caption": "Chest radiograph.", "detailed_caption": "Chest radiograph showed a large left upper lobe bulla and an incidental air rifle pellet.", "modalities": ["x-ray"]}, {"type": "fig", "id": 1, "subfig": "C", "path": ["images/28965716/fig/2.jpg"], "caption": "CT scan.", "detailed_caption": "Initial CT scan showed diffuse emphysematous disease.", "modalities": ["ct"]}], "diagnosis": "Giant bullous emphysema (vanishing lung syndrome)", "standardized_diagnosis": [{"original_term": "Giant bullous emphysema", "corrected_term": null, "code": "CA21.Y", "title": "bullous emphysema", "chapter": "Diseases of the respiratory system", "primary": true}, {"original_term": "Vanishing lung syndrome", "corrected_term": null, "code": "LD2A.Y", "title": "Vanishing testes syndrome", "chapter": "Developmental anomalies", "primary": false}]}, "year": 2017, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "29097384", "patient_info": {"basic_info": "35-year-old vegetarian Indian woman living in UK for 3 years. History of total thyroidectomy for toxic nodular goitre earlier in the year, on calcium supplements. Presented to emergency department with first episode of seizure after trip to India. Had experienced vague abdominal discomfort two weeks before seizure. Family history notable for grandmother in India having experienced delirium, dizziness, and headaches two months prior (self-resolved). Patient's husband also experienced similar vague abdominal discomfort two weeks before patient's presentation.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/29097384/fig/1.jpg"], "caption": "MRI of the brain, axial view at the level of the centrum semiovale, T2 fluid attenuated inversion recovery (FLAIR) sequence.", "detailed_caption": "T2 fluid attenuated inversion recovery axial MRI image through the brain at the level of the centrum semiovale showing lesion with scolices and perilesional oedema around the right frontal lobe", "modalities": ["mri"]}], "diagnosis": "Neurocysticercosis, based on MRI findings showing classic sign of ring lesion with scolices and perilesional oedema around the right frontal lobe", "standardized_diagnosis": [{"original_term": "Neurocysticercosis", "corrected_term": null, "code": "1F70.0Z", "title": "neurocysticercosis", "chapter": "Certain infectious or parasitic diseases", "primary": true}]}, "year": 2017, "classification": "Infectious and immunologic disorders"}
+{"pmid": "28865431", "patient_info": {"basic_info": "A-year-old asymptomatic female patient was referred to the hospital. She had no history of cardiovascular disease but had experienced a spontaneous abortion 3 years previously and is a mother of three children. She has a positive family history of cardiovascular diseases and cancer (lung adenocarcinoma and brain tumour). Physical examination revealed distant heart sounds with a regular rate and rhythm. Abdominal ultrasound examination found no abnormalities, and hormone test results were normal, excluding a hormone-secreting nature of the tumour.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/28865431/fig/1.jpg"], "caption": "(A) Chest X-ray, 2004. (B) Chest X-ray, 2007. (C) Chest X-ray, 2010. (D) Chest X-ray, 2014.", "detailed_caption": "Chest X-ray examinations performed in 2004 (panel a), 2007 (panel b), 2010 (panel c) and in 2014 (panel d). Arrows show the enlarged cardiac silhouette", "modalities": ["x-ray"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/28865431/fig/2.jpg"], "caption": "(A) Transthoracic 2D echocardiography, parasternal long-axis plane. (B) Transthoracic 2D echocardiography, short-axis plane. (C) Transthoracic 2D echocardiography, apical four-chamber view.", "detailed_caption": "Transthoracic 2D echocardiography in the parasternal long-axis plane (panel a), short-axis plane (panel b) and apical four-chamber view (panel c). Arrows show the intrapericardial mass", "modalities": ["ultrasound"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/28865431/fig/3.jpg"], "caption": "(A, B) Cine MRI, long-axis plane. (C, D) Cine MRI, short-axis plane, diastolic phase. (E) MRI, proton density-weighted image. (F) MRI, T2-weighted SPIR image. (G) MRI, LGE, long-axis plane. (H) MRI, LGE, short-axis plane.", "detailed_caption": "Cine movie MRI images in the long- (panel a, b) and short-axis planes in diastolic phase (panel c and d). Intermediate signal intensity on proton density-weighted images (panel e) and high signal intensity on T2-weighted SPIR images (panel f). LGE images in the long- (panel g) and short-axis planes (panel h). Arrows show the intrapericardial tumour", "modalities": ["mri"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/28865431/fig/4.jpg"], "caption": "(A) Coronary CTA, axial plane. (B) Coronary CTA, two-chamber view reconstruction.", "detailed_caption": "Coronary CTA images (panel a: axial plane, panel b: two-chamber view reconstruction) showed that coronary arteries were not invaded by the tumour. Arrows show the left anterior descending artery", "modalities": ["ct"]}], "diagnosis": "Intrapericardial solitary fibrous tumour", "standardized_diagnosis": [{"original_term": "Intrapericardial solitary fibrous tumour", "corrected_term": null, "code": "2F9Z", "title": "neoplasm NOS", "chapter": "Neoplasms", "primary": true}]}, "year": 2017, "classification": "Neoplastic diseases"}
+{"pmid": "28963096", "patient_info": {"basic_info": "A 57-year-old male patient presented with a three-month history of fatigue, recurrent sore throats, and a persistent 'cold sore.' The patient had no relevant medical history, drank little alcohol, and was a non-smoker.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/28963096/fig/1.jpg"], "caption": "Clinical photograph of the perioral region obtained at initial presentation.", "detailed_caption": "Figure 1 is a clinical photograph showing an irregular and indurated ulcer at the right oral commissure, obtained on the patient's initial presentation; the image demonstrates the anatomical location at the perioral region and provides visual evidence of the lesion's morphology, but does not involve a specific imaging or staining modality, nor does it specify particular magnification or orientation.", "modalities": ["clinical"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/28963096/fig/2.jpg"], "caption": "Clinical photograph of the left submandibular region of the neck.", "detailed_caption": "Figure 2 shows a clinical photograph depicting an ipsilateral swelling palpable in the submandibular triangle; the image demonstrates a visible swelling in the left submandibular region of the neck, indicating regional lymphadenopathy in association with an oral commissure lesion.", "modalities": ["clinical"]}], "diagnosis": "Primary syphilis, confirmed by positive enzyme immunoassay for IgM, raised venereal disease research laboratory titre, unilateral painless cervical lymphadenopathy, and a perioral lesion with a plasma cell rich infiltrate", "standardized_diagnosis": [{"original_term": "Primary syphilis", "corrected_term": null, "code": "1A61.0", "title": "primary syphilis", "chapter": "Diseases of the genitourinary system", "primary": true}, {"original_term": "Unilateral painless cervical lymphadenopathy", "corrected_term": null, "code": "MA01.0", "title": "Cervical lymphadenopathy", "chapter": "Symptoms, signs or clinical findings, not elsewhere classified", "primary": false}, {"original_term": "Perioral lesion with plasma cell rich infiltrate", "corrected_term": null, "code": "2A83.Z", "title": "Plasma cell neoplasms", "chapter": "Neoplasms", "primary": false}]}, "year": 2017, "classification": "Infectious and immunologic disorders"}
+{"pmid": "28975284", "patient_info": {"basic_info": "53-year-old woman with chronic low back pain and partial paralysis from a thoracic spinal cord infarction, secondary to aortic dissection from prior cocaine use. She reported pain levels of 5/10, which improved to 2/10 with hydrocodone/acetaminophen. She reported no recent illicit substance or drug use and stated her last dose of hydrocodone was that day. Prior treatments with duloxetine and gabapentin had failed to control pain. State prescription drug monitoring program showed no other prescribers of controlled substances.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/28975284/tab/1.jpg"], "caption": "Laboratory urine drug screen results.", "detailed_caption": "Urine drug screen results showed: Negative for benzodiazepines, THC, MDMA, methadone, methamphetamine, opiates, and phencyclidine. Positive for cocaine.", "modalities": ["lab"]}], "diagnosis": "Active cocaine use with chronic pain requiring pain management", "standardized_diagnosis": [{"original_term": "Cocaine use disorder", "corrected_term": null, "code": "6C45.Z", "title": "Disorders due to use of cocaine", "chapter": "Mental, behavioural or neurodevelopmental disorders", "primary": false}, {"original_term": "Chronic pain", "corrected_term": null, "code": "MG30.Z", "title": "Chronic pain", "chapter": "Symptoms, signs or clinical findings, not elsewhere classified", "primary": true}]}, "year": 2017, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "29051212", "patient_info": {"basic_info": "A 19-year-old man of Kachin ethnicity presented with fever (39.5°C) and was diagnosed with vivax malaria by microscopy. After receiving treatment, he experienced two days of passing dark urine, followed by an episode of syncope. On admission, he weighed 59 kg and was afebrile (36.2°C), with heart rate 120 beats/min, blood pressure 70/40 mm Hg, and respiratory rate 36 breaths/min. He was moderately jaundiced with pale conjunctivae and nail beds. The spleen was palpable at 1.5 cm below the left costal margin. Initial laboratory findings showed reduced hemoglobin (34 g/L; reference range 110-160), hematocrit (9.2%; 35-50), and red blood cell count (1.1×1012/L; 3.5-5.5×1012). The patient's urine contained bilirubin and hemoglobin but no red blood cells. Total bilirubin was 71.9 µmol/L (reference range 3.4-17.1), unconjugated bilirubin 52.1 µmol/L (1.7-10.2), urea nitrogen 18.45 mmol/L (1.07-7.14), and creatinine 235.4 µmol/L (44-132). Blood smear was negative for malaria parasites and beam test was negative. A fluorescent spot test found G6PD deficiency.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/29051212/fig/1.jpg"], "caption": "Electropherogram of SNaPshot genotyping for the G6PD gene.", "detailed_caption": "Electropherogram showing SNaPshot genotyping for the G6PD gene revealed that the patient carried the G6PD Mahidol variant (487G >A) hemizygote", "modalities": ["genetic"]}], "diagnosis": "Primaquine-induced acute hemolytic anemia in a G6PD-deficient patient with the Mahidol variant", "standardized_diagnosis": [{"original_term": "Glucose-6-phosphate dehydrogenase deficiency", "corrected_term": null, "code": "5C51.3", "title": "Glucose-6-phosphate dehydrogenase deficiency", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": false}, {"original_term": "Acute hemolytic anemia", "corrected_term": null, "code": "3A20.0", "title": "acute Lederer haemolytic anaemia", "chapter": "Diseases of the blood or blood-forming organs", "primary": true}]}, "year": 2017, "classification": "Endocrine and metabolic disorders"}
+{"pmid": "28875622", "patient_info": {"basic_info": "A 55-year-old male smoker (30 pack-years, recently quit) presented with cough, sputum, and dyspnea on exertion for three months. He had no past medical history. Physical examination showed decreased lung sounds in bilateral lung fields, with no peripheral lymphadenopathy, organomegaly, or skin lesions. Laboratory findings were notable for mildly elevated AST (50 IU/L) and ALT (54 IU/L).ia (PaO2 60.3 mmHg, PaCO2 31.0 mmHg, pH 7.455). Pulmonary function tests revealed decreased DLCO (58.66% predicted), FVC (85.74% predicted), FEV1 (77.71% predicted), and FEV1/FVC ratioonchoalveolar lavage showed 55% lymphocytes with CD8/CD4 ratio of 1:1 and 7% eosinophils.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/28875622/fig/1.jpg"], "caption": "(A, B) CT scan of the lungs, axial view. (C) CT scan of the lungs, coronal view.", "detailed_caption": "Follow-up CT scan shows diffuse GGOs at both lungs with underlying emphysema. Arrows indicate sites of wedge resections. Posterior basal segment of right lower lobe (A) and lateral segment of right middle lobe (B). (A, B) Axial view. (C) Coronal view. CT = computed tomography, GGOs = ground glass opacities.", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/28875622/fig/2.jpg"], "caption": "(A) Lung biopsy, histopathology, magnification ×200. (B) Lung biopsy, granzyme B staining, magnification ×200. (C) Lung biopsy, CD2 staining, magnification ×200. (D) Lung biopsy, CD3 staining, magnification ×200. (E) Lung biopsy, EBER in situ hybridization, magnification ×100.", "detailed_caption": "Histopathology of the lung biopsy. (A) Angiocentric infiltration of the lung parenchyme (magnification × 200). (B) Neoplastic cells stained for granzyme B (magnification × 200). (C) Neoplastic cells stained for CD2 (magnification × 200). (D) Neoplastic cells with loss of expression for surface CD3 (magnification × 200). (E) EBERs by in situ hybridization (magnification × 100). EBERs = Epstein-Barr virus encoded small nuclear RNAs.", "modalities": ["pathology"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/28875622/fig/3.jpg"], "caption": "PET-CT scan of the lung, FDG modality.", "detailed_caption": "Figure 3 presents a positron emission tomography-computed tomography (PET-CT) scan demonstrating no significant fluorodeoxyglucose (FDG) uptake to suggest malignancy; notably, the region of the lung confirmed by biopsy to contain extranodal natural killer/T-cell lymphoma, nasal type (ENKTCL), also shows no abnormal FDG uptake.", "modalities": ["ct", "pet/spect/nuclear"]}], "diagnosis": "Primary Pulmonary Extranodal Natural Killer/T-cell Lymphoma (ENKTCL), Nasal Type", "standardized_diagnosis": [{"original_term": "Primary pulmonary extranodal natural killer/T-cell lymphoma", "corrected_term": null, "code": "2C25.Y", "title": "Primary pulmonary lymphoma", "chapter": "Diseases of the respiratory system", "primary": true}, {"original_term": "Extranodal natural killer/T-cell lymphoma, nasal type", "corrected_term": null, "code": "2A90.6", "title": "Extranodal NK/T-cell lymphoma, nasal type", "chapter": "Neoplasms", "primary": false}]}, "year": 2017, "classification": "Neoplastic diseases"}
+{"pmid": "28982972", "patient_info": {"basic_info": "A 26-year-old woman presented with a one-year history of rash on her lower legs, abdomen, and arms, accompanied by a six-month history of paraesthesia in her right hand and left foot. She had no history of fatigue, weight loss, fever, or arthralgia. Neurological examination showed reduced sensation to light touch in the right ring and little fingers, the lateral palmar and dorsal hand, the left lateral calf, and the dorsum of the left foot. She experienced clumsiness in her right hand causing difficulty with writing, but no weakness was noted. Blood tests, including a full autoimmune screen, were normal. Electromyography demonstrated sensory damage in the right ulnar nerve and asymmetrical superficial sensory damage in the peroneal nerve, with greater involvement on the left side.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/28982972/fig/1.jpg"], "caption": "Clinical photograph of the abdomen obtained during dermatology evaluation.", "detailed_caption": "Figure 1 is a clinical photograph showing broken livedo reticularis on the abdomen, depicting the cutaneous manifestation of retiform erythema and disrupted vascular pattern in a 26-year-old woman with a one-year history of rash on her lower legs, abdomen, and arms; the image was obtained during her dermatology evaluation, and it provides direct visual evidence of the skin findings without further imaging modalities or staining.", "modalities": ["clinical"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/28982972/fig/2.jpg"], "caption": "Histology of deep skin biopsy from left lower leg.", "detailed_caption": "Histology of deep skin biopsy from left lower leg showing medium vessel vasculitis with fibrinoid necrosis", "modalities": ["pathology"]}], "diagnosis": "Mononeuritis multiplex due to cutaneous polyarteritis nodosa", "standardized_diagnosis": [{"original_term": "Mononeuritis multiplex", "corrected_term": null, "code": "8C12.1", "title": "Mononeuritis multiplex", "chapter": "Diseases of the nervous system", "primary": false}, {"original_term": "Cutaneous polyarteritis nodosa", "corrected_term": null, "code": "EF40.Z", "title": "Cutaneous polyarteritis nodosa", "chapter": "Diseases of the skin", "primary": true}]}, "year": 2017, "classification": "Infectious and immunologic disorders"}
+{"pmid": "28930511", "patient_info": {"basic_info": "A 59-year-old woman was admitted to the hospital with a 9-day history of stiffness, swelling, and severe pain beginning in the metacarpophalangeal joint of the right thumb, followed by bilateral ankle involvement 3 days later. She had a history of stroke, glaucoma, and total abdominal hysterectomy with bilateral salpingo-oophorectomy 7 years prior. The patient lived in New England, worked in health care, and reported unprotected vaginal intercourse 2 weeks before presentation. Physical examination showed the right thumb metacarpophalangeal joint was erythematous, warm, and painful with movement. Both ankles showed effusion and warmth without erythema, with pain on all range of motion. No fever, chills, night sweats, or systemic symptoms were reported. Joint stiffness was not worse in the morning and did not improve throughout the day. Symptoms had not improved despite 4 days of methylprednisolone therapy.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/28930511/fig/1.jpg"], "caption": "(A) Synovial fluid culture on blood agar plate after 24 hours incubation. (B) Synovial fluid culture on chocolate agar plate after 24 hours incubation. (C) Gram staining of colony. (D) Gram staining of blood culture. (E) Molecular testing.", "detailed_caption": "Culture of the synovial fluid on a blood agar plate (Panel A) and on a chocolate agar plate (Panel B) showed a small, wet‑appearing colony after 24 hours of incubation. Gram’s staining of the colony (Panel C) revealed gram‑negative diplococci. Gram’s staining of a bottle of blood (Panel D) also revealed gram‑negative diplococci. Molecular testing confirmed that both isolates were Neisseria gonorrhoeae.", "modalities": ["lab", "pathology"]}], "diagnosis": "Septic arthritis due to disseminated infection with Neisseria gonorrhoeae", "standardized_diagnosis": [{"original_term": "Septic arthritis", "corrected_term": null, "code": "FA10.Z", "title": "septic arthritis", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": true}, {"original_term": "Disseminated gonococcal infection", "corrected_term": null, "code": "1A73", "title": "Disseminated gonococcal infection", "chapter": "Diseases of the genitourinary system", "primary": false}]}, "year": 2017, "classification": "Infectious and immunologic disorders"}
+{"pmid": "29045211", "patient_info": {"basic_info": "A 64-year-old man was evaluated in the emergency department for dyspnea, wheezing, headaches, cough, and night sweats. Approximately 5 months before presentation, he developed a cough with thin yellow sputum, followed by exertional dyspnea, chest tightness, and wheezing. Ten days before this presentation, he developed lethargy, myalgias, chills, headaches, anorexia, and night sweats. On the day before presentation, his primary care physician noted a temperature of 37.8°C, heart rate of 105 beats per minute, blood pressure of 100/70 mm Hg, oxygen saturation of 98% on ambient air, and harsh breath sounds. On examination at this hospital, he appeared mildly ill with a temperature of 38.7°C, heart rate of 118 beats per minute, blood pressure of 133/74 mm Hg, and oxygen saturation of 96% on ambient air. He reported bitemporal bandlike headaches, neck stiffness, and photophobia. Physical examination revealed neck stiffness, inspiratory crackles in both lungs, and mild synovial thickening in the hands consistent with chronic arthritic changes. His medical history included fibromyalgia, L5 radiculopathy with foot drop, carpal tunnel syndrome, knee osteoarthritis, neck osteoarthritis, cervical spondylosis, sleep apnea, and peptic ulcer disease. He worked in a healthcare facility and had traveled to Florida and Europe/Caribbean recently. His sister had systemic lupus erythematosus, scleroderma, and Hashimoto's thyroiditis.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/29045211/tab/1.jpg"], "caption": "Laboratory results.", "detailed_caption": "Laboratory results show progressive leukocytosis from 10,000 to 21,130 per mm³ with neutrophilia (80.2%) and eosinophilia (4.6% or absolute count of 972 per mm³), elevated erythrocyte sedimentation rate of 34 mm/hr, and electrolyte abnormalities including low sodium (132 mmol/L) and chloride (95 mmol/L). One day before presentation showed microscopic hematuria with 5 RBCs per high-power field.", "modalities": ["lab"]}, {"type": "fig", "id": 1, "subfig": null, "path": ["images/29045211/fig/2.jpg"], "caption": "(A) Axial CT at the level of the carina. (B) Axial CT at the level of the lung bases.", "detailed_caption": "Axial images obtained at the level of the carina (Panel A) and at the lung bases (Panel B) show bronchial‑wall thickening, ground‑glass opacities in a predominantly peribronchial distribution (Panel A, arrows), and patchy subpleural opacities (Panel B, arrows).", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/29045211/fig/3.jpg"], "caption": "Indirect immunofluorescence assay of blood specimen using ethanol-fixed human neutrophils.", "detailed_caption": "Blood specimen tested by indirect immunofluorescence after incubation with ethanol-fixed human neutrophils reveals a bright perinuclear staining pattern, which typically corresponds to the presence of autoantibodies to myeloperoxidase.", "modalities": ["lab"]}], "diagnosis": "Eosinophilic granulomatosis with polyangiitis", "standardized_diagnosis": [{"original_term": "Eosinophilic granulomatosis with polyangiitis", "corrected_term": null, "code": "4A44.A2", "title": "Eosinophilic granulomatosis with polyangiitis", "chapter": "Diseases of the skin", "primary": true}]}, "year": 2017, "classification": "Orthopedic and connective tissue disorders"}
+{"pmid": "29122852", "patient_info": {"basic_info": "A 28-year-old man was brought to hospital after a road traffic incident where his right knee impacted against the dashboard during collision. He described hearing a 'pop' at the time of impact and subsequently experienced extreme pain. On examination in the emergency department, his knee was swollen and tender with severely limited range of movement. After initial management and once the swelling resolved, re-examination revealed the knee was grossly unstable with positive posterior sag sign.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/29122852/fig/1.jpg"], "caption": "Clinical photograph of the right knee obtained after hospital admission and initial management.", "detailed_caption": "Figure 1 is a clinical photograph of the patient’s right knee, obtained after hospital admission and initial management, demonstrating the grossly unstable knee. The image type is a clinical photograph, and the anatomical site examined is the patient’s right knee. The photograph was taken following a road traffic accident and after acute swelling subsided to facilitate re-examination. The key visual finding in the image, as described in both the caption and accompanying body text on page 1, is the observation of gross instability of the knee suggestive of ligamentous injury, particularly relevant to the clinical context of posterior cruciate ligament injury. No specific imaging modality, staining method, or magnification applies as this is a gross clinical image rather than a radiographic or histopathological figure.", "modalities": ["clinical"]}], "diagnosis": "Posterior cruciate ligament injury with potential multi-ligament knee injury", "standardized_diagnosis": [{"original_term": "Posterior cruciate ligament injury", "corrected_term": null, "code": "NC93.63", "title": "Rupture of posterior cruciate ligament", "chapter": "Injury, poisoning or certain other consequences of external causes", "primary": true}, {"original_term": "Multi-ligament knee injury", "corrected_term": null, "code": "NC9Z", "title": "Injury of knee, unspecified", "chapter": "Injury, poisoning or certain other consequences of external causes", "primary": false}]}, "year": 2017, "classification": "Orthopedic and connective tissue disorders"}
+{"pmid": "29171813", "patient_info": {"basic_info": "A 36-year-old man with opioid-use disorder presented to the emergency department after an overdose. His history began 4 years prior with hand surgery and subsequent hydromorphone administration, which led to seeking prescription opioids and later heroin use. He had previously attempted rehabilitation multiple On the day of presentation, he had injected heroin (believed to be mixed with fentanyl) twice, at 10 AM and 1:30 PM. When found in a park lying in slush, he was unresponsive with a Glasgow Coma Scale score of 3, temperature 35.6°C, pulse 88/min, BP 122/76 mmHg, respiratory rate 4/min, and oxygen saturation 80% on room air. He had pinpoint pupils and shallow breathing. Initial examination in the ED showed temperature 35.9°C, pulse 84/min, BP 115/69 mmHg, respiratory rate 16/min, and oxygen saturation 93% on 6L oxygen. Laboratory results showed normal complete blood count, electrolytes, renal function, and blood glucose of 165 mg/dL. Venous blood gas showed pH 7.29, pCO2 68 mmHg, pO2 <28 mmHg, bicarbonate 32 mmol/L. ECG showed nonspecific ST-segment and T-wave abnormalities.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/29171813/fig/1.jpg"], "caption": "Portable anteroposterior chest radiograph.", "detailed_caption": "Initial portable anteroposterior chest radiograph showed cephalization of pulmonary vasculature and fluid in the minor fissure, consistent with interstitial pulmonary edema. Bilateral faint reticulonodular and patchy airspace opacities suggested superimposed aspiration.", "modalities": ["x-ray"]}], "diagnosis": "1. Unintentional opioid overdose, possibly from heroin mixed with fentanyl 2. Opioid-induced noncardiogenic pulmonary edema", "standardized_diagnosis": [{"original_term": "Unintentional opioid overdose", "corrected_term": null, "code": "NE60", "title": "overdose NOS", "chapter": "Injury, poisoning or certain other consequences of external causes", "primary": true}, {"original_term": "Opioid-induced noncardiogenic pulmonary edema", "corrected_term": null, "code": "CB01", "title": "Pulmonary oedema", "chapter": "Diseases of the respiratory system", "primary": false}]}, "year": 2017, "classification": "Infectious and immunologic disorders"}
+{"pmid": "29191853", "patient_info": {"basic_info": "A 65-year-old man presented with bilateral leg swelling that had worsened over six weeks. He reported vague abdominal discomfort and tiredness. Physical examination revealed bilateral pitting edema up to the groin, without erythema, tenderness, or warmth. The patient was systemically well with normal heart sounds and clear chest examination. No palpable masses or lymphadenopathy were found in the abdomen. Laboratory testing showed normocytic anemia (hemoglobin 95 g/L; normal range 130-180), elevated C-reactive protein of 33.0 mg/L (normal range 0-5.0), and raised IgG4 level (3.55 g/L; normal range 0.08-1.4). Doppler ultrasound showed no deep vein thrombosis.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/29191853/fig/1.jpg"], "caption": "(A) CT of the abdomen and pelvis, cross-sectional view. (B) CT of the abdomen and pelvis, coronal view.", "detailed_caption": "Cross sectional and coronal views of computed tomography of the abdomen and pelvis showed a mass encasing the aorta, suggesting retroperitoneal fibrosis", "modalities": ["ct"]}], "diagnosis": "Retroperitoneal fibrosis secondary to IgG4 related disease", "standardized_diagnosis": [{"original_term": "Retroperitoneal fibrosis", "corrected_term": null, "code": "FB51.4Z", "title": "Retroperitoneal fibrosis", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": false}, {"original_term": "IgG4-related disease", "corrected_term": null, "code": "4A43.0", "title": "IgG4 related disease", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": true}]}, "year": 2017, "classification": "Infectious and immunologic disorders"}
+{"pmid": "29049637", "patient_info": {"basic_info": "A 7-month-old female infant presented with a 2-month history of brown macules on the back and thighs, without prodromal erythema or trauma. Her birth history was unremarkable, and her growth and development were normal. Family history was unremarkable. Physical examination revealed 7 sharply marginated, irregularly shaped, polymorphic hyperpigmented macules of 10 to 15 mm in diameter, without scales, on the back and thighs. The hyperpigmented macules were of orange hue, with unevenness of the pigmentation. Vital signs were normal. There was no lymphadenopathy or hepatosplenomegaly. Laboratory test results, including complete blood cell count, liver function tests, and renal function, were normal.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/29049637/fig/1.jpg"], "caption": "Clinical photograph of the upper back and right lumbar area, performed at initial presentation.", "detailed_caption": "Figure 1 is a clinical photograph depicting the upper back and right lumbar area of a 7-month-old female infant, demonstrating sharply marginated, irregularly shaped, polymorphic hyperpigmented macules measuring 10 to 15 mm in diameter, with an orange hue and uneven pigmentation, and lacking scales; the lesions were present at the time of initial presentation and physical examination.", "modalities": ["clinical"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/29049637/fig/2.jpg"], "caption": "Clinical photograph of the right lumbar skin.", "detailed_caption": "Figure 2 is a clinical photograph demonstrating a positive Darier sign on the right lumbar brown macule; the image captures the skin site after it has been stroked, showing localized erythema and urticarial response consistent with mast cell degranulation, as described in the patient outcome section of the case report.", "modalities": ["clinical"]}], "diagnosis": "Maculopapular cutaneous mastocytosis (polymorphic variant)", "standardized_diagnosis": [{"original_term": "Maculopapular cutaneous mastocytosis", "corrected_term": null, "code": "2A21.10", "title": "Maculopapular cutaneous mastocytosis", "chapter": "Neoplasms", "primary": true}]}, "year": 2017, "classification": "Dermatologic and mucosal diseases"}
+{"pmid": "29031846", "patient_info": {"basic_info": "20-year-old male with 5-year history of multiple brownish-yellow xanthoma-like papules and nodules affecting face, flexures of trunk, and limbs. No systemic symptoms. Lesions initially appeared as discrete/grouped papules, coalescing into plaques and nodules over 2 years. Lesions were painless and asymptomatic. No family history of cutaneous disorders. Physical exam showed numerous papules and nodules on eyelids, cheeks, oral commissure, neck, cubital fossae, palms, abdomen, flank, and popliteal fossa. Lesions were discrete and confluent, shiny, ranging from skin-colored to yellow and brown. Linear arrangement noted on oral commissure and abdomen, suggesting koebnerisation. Laboratory blood tests showed normal lipid levels.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A,B", "path": ["images/29031846/fig/1.jpg"], "caption": "(A,B) Clinical photographs of the axillae.", "detailed_caption": "A: Clinical photographs demonstrate hundreds of red to brown papules and nodules distributed symmetrically in the axillae. B: Clinical photographs demonstrate hundreds of red to brown papules and nodules distributed symmetrically in the axillae.", "modalities": ["clinical"]}, {"type": "fig", "id": 1, "subfig": "C", "path": ["images/29031846/fig/2.jpg"], "caption": "Histopathological examination of right axilla lesion, H&E staining.", "detailed_caption": "Histopathological examination of right axilla lesion showed dense, granulomatous dermal infiltrate in upper dermis consisting of histiocytes, lymphocytes, and multinucleated giant cells (H&E stain)", "modalities": ["pathology"]}], "diagnosis": "Xanthoma disseminatum", "standardized_diagnosis": [{"original_term": "Xanthoma disseminatum", "corrected_term": null, "code": "EE81", "title": "Xanthoma disseminatum", "chapter": "Diseases of the skin", "primary": true}]}, "year": 2018, "classification": "Dermatologic and mucosal diseases"}
+{"pmid": "29208443", "patient_info": {"basic_info": "50-year-old woman with advanced high-grade serous ovarian cancer presented with large and painful supraclavicular erosions. Erosions appeared 4 weeks after localized palliative radiotherapy on a supraclavicular metastatic lymphadenopathy. Subsequently developed oral mucosa erosions and widespread cutaneous lesions. Clinical examination showed: polymorphic skin lesions with substantial skin confluent erosions over irradiated area, atypical targets mimicking erythema multiforme on forearms. Involvement of oral, nasal, genital, and anal mucous membranes. Histological examination showed suprabasal acantholysis, intra-epithelial blisters, eosinophilic spongiosis, and dermal inflammatory infiltrate. Indirect immunofluorescence showed antibodies against intercellular substance (titre 1:1280). ELISA tests positive for anti-desmoglein 1 and 3 antibodies. Immunoblot analysis showed presence of anti-desmoplakin I and II antibodies.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/29208443/fig/1.jpg"], "caption": "Clinical photograph of the body at the time of dermatological examination.", "detailed_caption": "A: Clinical photograph showing disseminated bullae on variably inflamed skin, evolving into erosions, located on the patient's body at the time of dermatological examination.", "modalities": ["clinical"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/29208443/fig/2.jpg"], "caption": "Direct immunofluorescence analysis of skin showing immunoglobulin G deposits on keratinocyte cell surfaces and linear C3 deposits at the dermal-epidermal junction.", "detailed_caption": "Direct immunofluorescence analysis showing immunoglobulin G deposits on epithelial cell surface of keratinocytes (in fishnet pattern) and linear C3 deposits on dermal-epidermal junction", "modalities": ["pathology"]}], "diagnosis": "Paraneoplastic pemphigus", "standardized_diagnosis": [{"original_term": "Paraneoplastic pemphigus", "corrected_term": null, "code": "EB40.2", "title": "Paraneoplastic pemphigus", "chapter": "Diseases of the skin", "primary": true}]}, "year": 2017, "classification": "Dermatologic and mucosal diseases"}
+{"pmid": "29423197", "patient_info": {"basic_info": "A 54-year-old man with a history of polysubstance abuse presented with altered mental status. His past medical history was notable for treatment-naïve hepatitis C infection. Family history was notable for a sister who was diagnosed with renal failure of obscure etiology requiring dialysis at the age of 45 years. On examination, the patient was found to be afebrile, drowsy and hypertensive (172/110 mmHg). Jugular veins were distended and there were crackles at the lung bases. Blood tests revealed creatinine 16.0 mg/dL, blood urea nitrogen 99 mg/dL, hemoglobin 11.3 g/dL, platelets 222,000/mm³, LDH 907 (84-246 IU/L) and haptoglobin 171 (30-200 mg/dL). Urinalysis showed proteinuria. A blood film revealed rare schistocytes. Random urine protein-to-creatinine ratio was 1.9. Urine toxicology revealed cocaine and its metabolites. Routine blood and urine cultures showed no growth. Serologic tests showed reduced complement C3 level of 71 (90-180 mg/dL) and normal C4 level of 32 (10-40 mg/dL). C3 hypocomplementemia persisted throughout hospitalization. There were no antibodies against HIV 1/2. Ultrasonography showed echogenic kidneys measuring 9.8 cm (right) and 10.3 cm (left).", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/29423197/fig/1.jpg"], "caption": "(A) Kidney artery, H&E staining. (B) Kidney artery, Verhoeff’s Van Gieson elastin staining. (C) Arteriole, periodic acid–Schiff staining.", "detailed_caption": "Vascular histopathology. (A) An artery in the kidney showing luminal occlusion secondary to edematous intimal expansion (arrow) (hematoxylin and eosin stain). (B) Same artery as (A), demonstrating the absence of elastic fibers in the expanded intima (arrow) (Verhoeff’s Van Gieson elastin stain). (C) An arteriole demonstrating onion skin-like smooth muscle cell hyperplasia (hyperplastic arteriolopathy) (arrow) (periodic acid–Schiff stain).", "modalities": ["pathology"]}], "diagnosis": "Cocaine-induced thrombotic microangiopathy", "standardized_diagnosis": [{"original_term": "Cocaine-induced thrombotic microangiopathy", "corrected_term": null, "code": "3B65", "title": "Thrombotic microangiopathy, not elsewhere classified", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": true}]}, "year": 2018, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "29211675", "patient_info": {"basic_info": "A 67-year-old woman presented with leg pain. Seven weeks prior, she developed cramping sensations in thighs and calves after walking a couple blocks, relieved by rest. Symptoms progressed to cramping after walking less than one block. Medical history included rheumatoid arthritis (in remission for >20 years), mild aortic insufficiency from thickened valve leaflets, intermittent palpitations from premature atrial contractions, and generalized anxiety disorder. She never smoked. Family history included coronary artery disease in both parents diagnosed after age 70. Physical exam showed: temperature 37.0°C, heart rate 79, blood pressure 138/90 right arm and 140/84 left arm, respiratory rate 12, oxygen saturation 100%. Clear lungs, grade 2/4 diastolic murmur at right upper sternal border, bilateral bruits over carotid/oral arteries, diminished pulses in legs (popliteal, dorsalis pedis, and posterior tibialis 1/3). Initial lab results showed normal basic metabolic panel, liver function tests, and complete blood count. HbA1c was 5.6%, LDL 95 mg/dL, HDL 83 mg/dL, triglycerides 110 mg/dL. Ankle-brachial index was 0.8 bilaterally.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/29211675/fig/1.jpg"], "caption": "(A–C) Color Doppler ultrasonography of the arterial wall.", "detailed_caption": "Panels A, B, and C show edema of the vasculitic wall with a “halo” sign (blue arrows), a finding of a dark halo around the arterial lumen on color Doppler ultrasonography.", "modalities": ["ultrasound"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/29211675/fig/2.jpg"], "caption": "(A) Temporal artery biopsy, H&E staining. (B) Temporal artery biopsy, H&E staining.", "detailed_caption": "Figure 2 consists of histopathological images of temporal artery biopsy specimens, with Hematoxylin and Eosin (H&E) staining. Panel A demonstrates a normal segment of the temporal artery showing a \"skip\" lesion—an area of normal tissue frequently observed between inflamed segments in giant-cell arteritis. Panel B displays pathologic features including disruption of the internal elastic lamina, thinning of the media, and scarring of the intima, corresponding to histologic evidence of giant-cell arteritis.", "modalities": ["pathology"]}], "diagnosis": "Giant-cell arteritis (large-vessel variant)", "standardized_diagnosis": [{"original_term": "Giant-cell arteritis", "corrected_term": null, "code": "4A44.2", "title": "Giant cell arteritis", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": true}]}, "year": 2017, "classification": "Infectious and immunologic disorders"}
+{"pmid": "29025743", "patient_info": {"basic_info": "A 44-year-old woman with cerebral palsy and multiple sclerosis (diagnosed at age 16) presented to the emergency department with four days of acute constipation and vomiting. She had a history of chronic constipation due to neurogenic bowel dysfunction secondary to her underlying conditions, initially managed with laxatives. Her constipation had become severe enough to warrant insertion of a sacral anterior root stimulator in the last year. On examination, her abdomen was markedly distended, diffusely tender, with absent bowel sounds. There was no guarding, rigidity, or previous incisions, and all hernia orifices were intact. Vital signs showed tachycardia (140 beats/min), tachypnea, normal blood pressure (130/60 mmHg), and oxygen saturation of 98% on room air. Laboratory findings revealed normal pH of 7.36, hypocapnea (PCO2 29mmHg), hyperlactataemia (20 mg/dL), normal PO2 (), white blood cell count of 10,500 cells/mm3 (73% neutrophils), and elevated C-reactive protein of 3.25 mg/dL.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/29025743/fig/1.jpg"], "caption": "Abdominal radiograph, anteroposterior view.", "detailed_caption": "Plain abdominal radiograph (anteroposterior view) showing hugely distended colon with classic 'coffee-bean' sign", "modalities": ["x-ray"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/29025743/fig/2.jpg"], "caption": "Plain abdominal radiograph, lateral decubitus view.", "detailed_caption": "Plain abdominal radiograph (lateral decubitus view) showing grossly distended colon with air-fluid levels", "modalities": ["x-ray"]}, {"type": "fig", "id": 5, "subfig": null, "path": ["images/29025743/fig/3.jpg"], "caption": "CT scan of the colon and liver regions.", "detailed_caption": "CT scan showing complex colonic volvulus with hugely distended bowel, small amount of free fluid around the liver, and severe fecal impaction in sigmoid colon", "modalities": ["ct"]}, {"type": "fig", "id": 6, "subfig": null, "path": ["images/29025743/fig/4.jpg"], "caption": "CT of the colon, axial view.", "detailed_caption": "Axial CT showing pneumatosis within the colonic wall and air-fluid levels, indicating bowel obstruction", "modalities": ["ct"]}], "diagnosis": "Sigmoid volvulus with bowel gangrene", "standardized_diagnosis": [{"original_term": "Sigmoid volvulus", "corrected_term": null, "code": "DB30.1&XA8YJ9", "title": "Sigmoid volvulus", "chapter": "Diseases of the digestive system", "primary": true}, {"original_term": "Bowel gangrene", "corrected_term": null, "code": "1A40.Z&XA03U9", "title": "gangrenous enteritis[Large bowel, NOS]", "chapter": "Certain infectious or parasitic diseases", "primary": false}]}, "year": 2017, "classification": "Gastrointestinal disorders"}
+{"pmid": "29122779", "patient_info": {"basic_info": "A 20-year-old man presented to the emergency department with palpitations lasting half an hour, accompanied by dizziness and near-fainting symptoms. He denied chest pain and had no known cardiac history. Physical examination revealed low blood pressure of 70/50 mm Hg and oxygen saturation of 91% on room air. No murmur was detected on chest auscultation.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/29122779/fig/1.jpg"], "caption": "ECG on presentation, ventricular rate 212 beats/min.", "detailed_caption": "ECG on presentation showed irregular wide complex tachycardia at an average ventricular rate of 212 beats/min with beat-to-beat variation in QRS morphology", "modalities": ["electrophysiology"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/29122779/fig/2.jpg"], "caption": "Resting 12-lead electrocardiogram performed during emergency department evaluation.", "detailed_caption": "Figure 2 is a resting electrocardiogram (ECG) demonstrating pre-excitation, as shown on page 1 of the document. The image depicts a 12-lead ECG acquired during the patient's evaluation in the emergency department, revealing features consistent with pre-excited atrial fibrillation, including irregular wide complex tachycardia and beat-to-beat variation in QRS morphology, which is attributed to antegrade conduction through an accessory pathway.", "modalities": ["electrophysiology"]}], "diagnosis": "Atrial fibrillation with very fast ventricular response as a result of antegrade conduction through an accessory pathway (pre-excited atrial fibrillation)", "standardized_diagnosis": [{"original_term": "Atrial fibrillation", "corrected_term": null, "code": "BC81.3Z", "title": "Atrial fibrillation", "chapter": "Diseases of the circulatory system", "primary": false}, {"original_term": "Pre-excited atrial fibrillation", "corrected_term": null, "code": "BC81.33", "title": "Preexcited atrial fibrillation", "chapter": "Diseases of the circulatory system", "primary": true}, {"original_term": "Accessory pathway conduction disorder", "corrected_term": null, "code": "BC62", "title": "Accessory pathway", "chapter": "Diseases of the circulatory system", "primary": false}]}, "year": 2017, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "29414266", "patient_info": {"basic_info": "24-year-old man presented with a 2-day history of swelling on the left side of neck and fever. Past medical history included two similar neck abscesses 2 years and 6 years ago, which were treated with antibiotics and drainage. Physical examination showed a 2 cm diameter swelling at the level of thyroid cartilage.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/29414266/fig/1.jpg"], "caption": "Clinical photograph of the left side of the neck at the level of the thyroid cartilage, taken on admission.", "detailed_caption": "A: Clinical photograph demonstrating a 2-cm swelling at the level of the thyroid cartilage on the left side of the neck, representing a neck abscess present on admission.", "modalities": ["clinical"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/29414266/fig/2.jpg"], "caption": "Barium esophagography and CT of the neck.", "detailed_caption": "Barium esophagography and CT revealed a sinus tract extending from the region of the superior pole of the left thyroid lobe to the neck abscess", "modalities": ["ct", "general imaging"]}], "diagnosis": "Branchial-cleft sinus presenting as recurrent neck abscess", "standardized_diagnosis": [{"original_term": "Branchial-cleft sinus", "corrected_term": null, "code": "LA6Y", "title": "first branchial cleft fistula", "chapter": "Developmental anomalies", "primary": true}, {"original_term": "Recurrent neck abscess", "corrected_term": null, "code": "1B75.3", "title": "abscess NOS", "chapter": "Diseases of the skin", "primary": false}]}, "year": 2018, "classification": "Genetic and congenital disorders"}
+{"pmid": "29634814", "patient_info": {"basic_info": "A 58-year-old overweight African American male presented with a 5-year history of a slightly pruritic and painful rash that worsened during summers, and blisters sometimes developed. Emollients were unhelpful. The patient was otherwise healthy, performed indoor manual labor as a maintenance engineer, and had no significant sun exposure. His sister had diabetes mellitus and a similar rash in her axillae. Physical examination revealed irregularly thickened skin containing hyperpigmentation, hypopigmentation, multiple acrochordons (skin tags), malodorous crust, and areas of maceration and erosion. Further examination showed pseudofolliculitis barbae in the submental and mandibular regions bilaterally. The nails, oral cavity, and mucosal membranes appeared normal.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/29634814/fig/1.jpg"], "caption": "(A) Clinical photograph of right axilla, global view. (B) Clinical photograph of right lateral neck, global view. (C) Clinical photograph of right axilla, close-up view. (D) Clinical photograph of right lateral neck, close-up view.", "detailed_caption": "Shows rash of right axilla and right lateral area of neck with global and close-up views", "modalities": ["clinical"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/29634814/fig/2.jpg"], "caption": "Biopsy, H&E staining.", "detailed_caption": "Biopsy showing epidermal acantholysis causing separation of keratinocytes into dilapidated brick wall appearance (hematoxylin-eosin staining)", "modalities": ["pathology"]}], "diagnosis": "Hailey-Hailey disease (benign familial pemphigus)", "standardized_diagnosis": [{"original_term": "Hailey-Hailey disease", "corrected_term": null, "code": "EC20.2", "title": "Hailey-Hailey disease", "chapter": "Diseases of the skin", "primary": true}, {"original_term": "Benign familial pemphigus", "corrected_term": null, "code": "EC20.2", "title": "Benign familial pemphigus", "chapter": "Diseases of the skin", "primary": false}]}, "year": 2018, "classification": "Dermatologic and mucosal diseases"}
+{"pmid": "29330935", "patient_info": {"basic_info": "21-year-old woman with history of cardiac transplant in 2007 for right ventricular failure following Mustard surgery for transposition of great arteries. Last follow-up (Nov 2016) showed normal biventricular function. Prior to current presentation, patient had an angry debate. Presenting with reduced tolerance to activity and fatigue. Physical exam showed borderline tachycardia (HR 100 bpm), oxygen saturation 98%, blood pressure 130/87 mmHg.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/29330935/fig/1.jpg"], "caption": "Electrocardiogram, 12-lead tracing, performed at the time of admission.", "detailed_caption": "Figure 1 presents an electrocardiogram tracing performed at the time of admission, depicting a 12-lead ECG from the patient in the acute phase; the assessment reveals a right bundle branch block, which was present previously, with new negative T waves in all precordial leads, consistent with the initial clinical findings in this episode of takotsubo cardiomyopathy.", "modalities": ["electrophysiology"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/29330935/fig/2.jpg"], "caption": "Echocardiography of the left ventricle, ejection fraction=34%.", "detailed_caption": "Echocardiography revealed dilated left ventricle with severely depressed ejection fraction (34%), akinetic mid-to-apical segments and normally contracting basal segments", "modalities": ["ultrasound"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/29330935/fig/3.jpg"], "caption": "Coronary angiography of the epicardial coronary arteries performed during acute hospital admission.", "detailed_caption": "Figure 3 presents coronary angiography images demonstrating the absence of coronary artery obstruction in the examined patient during the acute episode. The modality is coronary angiography, focused on the epicardial coronary arteries, acquired during the acute hospital admission for suspected ischemic cardiomyopathy in a young heart transplant recipient, with the key finding being negative angiographic evidence for coronary obstruction.", "modalities": ["angiography"]}], "diagnosis": "Takotsubo cardiomyopathy in transplanted heart", "standardized_diagnosis": [{"original_term": "Takotsubo cardiomyopathy", "corrected_term": null, "code": "BC43.5", "title": "Takotsubo cardiomyopathy", "chapter": "Diseases of the circulatory system", "primary": true}, {"original_term": "Heart transplant status", "corrected_term": null, "code": "QB63.1", "title": "heart transplant status", "chapter": "Factors influencing health status or contact with health services", "primary": false}]}, "year": 2018, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "29281575", "patient_info": {"basic_info": "A 32-year-old woman presented with severe headache and loss of peripheral vision. Four weeks prior, she underwent elective pregnancy termination with methotrexate after an intrauterine device failure. Three weeks later, she developed left upper quadrant pain, vaginal bleeding, and headache. She had a history of chronic back pain from vertebral disk herniation requiring spinal fusion surgery 4 years prior, and two episodes of self-limited thrombocytopenia associated with methotrexate treatment for an unknown skin disorder. Physical examination revealed temperature 38.3°C, blood pressure 126/72 mmHg, pulse 54/min, respiratory rate 20/min, and oxygen saturation 96% on room air. She had left homonymous hemianopia but otherwise normal cranial nerve function. Strength, sensation, and reflexes were normal.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/29281575/tab/1.jpg"], "caption": "Laboratory results. Peripheral blood smear, high-power field.", "detailed_caption": "Laboratory results showed: hematocrit 27.5%, hemoglobin 9.0 g/dL, platelets 80,000/mm3, elevated d-dimer 9377 ng/mL, undetectable haptoglobin <6 mg/dL, elevated LDH 487 U/L, and elevated alkaline phosphatase 165 U/L. Peripheral blood smear showed 0-2 schistocytes per high-power field, teardrop and pencil cells.", "modalities": ["lab", "pathology"]}, {"type": "fig", "id": 1, "subfig": null, "path": ["images/29281575/fig/2.jpg"], "caption": "CT of the abdomen, splenic size 15.6 cm.", "detailed_caption": "CT scan of abdomen showed splenomegaly (15.6 cm) and central filling defect in splenic vein compatible with acute splenic-vein thrombosis", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/29281575/fig/3.jpg"], "caption": "(A) CT of the head, pre-contrast. (B) CT venogram of the head, frontal projection, post-contrast. (C) MRI of the head, fluid-attenuated inversion recovery sequence. (D) MRI of the head, diffusion-weighted imaging. (E) MRI of the head, gradient-echo sequence. (F) Transfemoral cerebral angiogram, lateral projection, venous phase, post-contrast in the right internal carotid artery.", "detailed_caption": " Imaging Studies of the Head. A CT scan of the head (Panel A), obtained before the administration of contrast material, shows an area of hypodensity and sulcal effacement involving the right parietal lobe that extends into the right aspect of the splenium of the corpus callosum, a finding suggestive of edema and a recent infarct. Also shown are small, focal areas of hyperdensity, findings consistent with hemorrhagic conversion. A CT venogram (Panel B), obtained in frontal projection after the administration of contrast material, shows no evidence of filling in at least one right cortical vein that drains into the superior sagittal sinus. MRI of the head was performed, and fluid-attenuated inversion recovery, diffusion-weighted, and gradient-echo images (Panels C, D, and E, respectively) show evidence of edema, ischemia, and hemorrhage involving the right parietal lobe. A transfemoral cerebral angiogram (Panel F), obtained in lateral projection during the venous phase after the administration of contrast material in the right internal carotid artery, shows multiple filling defects in cerebral veins (arrows), findings that indicate thrombosis of the right frontal and parietal cortical veins, with no involvement of the major dural sinuses.", "modalities": ["ct", "mri", "angiography"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/29281575/fig/4.jpg"], "caption": "(A) Peripheral-blood flow cytometry, CD59 expression in glycophorin A+ erythrocytes, approximately 1% partial CD59 deficiency, approximately 5% complete CD59 deficiency. (B) Peripheral-blood flow cytometry, CD24 expression and FLAER staining in CD15+ neutrophils, 57% with loss of CD24 expression and no FLAER staining. (C) Peripheral-blood flow cytometry, CD14 expression and FLAER staining in CD64+ monocytes, 60% with loss of CD14 expression and no FLAER staining.", "detailed_caption": "Results of Peripheral-Blood Flow Cytometry. Panel A shows the level of CD59 expression in glycophorin A+ erythrocytes; approximately 1% of the glycophorin A+ erythrocytes show a partial CD59 deficiency (these are known as type II cells), and approximately 5% show a complete CD59 deficiency (type III cells). Panel B shows the level of CD24 expression and fluorescein-labeled proaerolysin (FLAER) staining in CD15+ neutrophils, which have a high level of side scatter of light (SSC, a marker of cytoplasmic complexity and granulation) (top graph); approximately 57% of the CD15+ neutrophils show loss of CD24 expression and no FLAER staining, a finding consistent with a paroxysmal nocturnal hemoglobinuria (PNH) clone (bottom graph). Panel C shows the level of CD14 expression and FLAER staining in CD64+ monocytes, which have a low level of SSC (top graph); approximately 60% of the CD64+ monocytes show loss of CD14 expression and no FLAER staining, a finding consistent with a PNH clone (bottom graph).", "modalities": ["lab"]}], "diagnosis": "Paroxysmal nocturnal hemoglobinuria", "standardized_diagnosis": [{"original_term": "Paroxysmal nocturnal hemoglobinuria", "corrected_term": null, "code": "3A21.0", "title": "Paroxysmal nocturnal haemoglobinuria", "chapter": "Diseases of the blood or blood-forming organs", "primary": true}]}, "year": 2017, "classification": "Infectious and immunologic disorders"}
+{"pmid": "29262281", "patient_info": {"basic_info": "A 41-year-old woman presented with chest pain. One year prior, she had experienced transient left-sided chest and shoulder tightness. Five days before presentation, she developed acute substernal chest pain radiating to jaw and shoulders with dyspnea while packing for a flight. The pain lasted 1 hour and resolved spontaneously. The day before presentation, similar pain recurred after walkingd with light-headedness and dyspnea. Medical history included laparoscopy for ovarian cyst and miscarriage 1 month prior. She exercised regularly, did not smoke, and consumed two alcoholic drinks weekly. Family history included hypermobile Ehlers-Danlos syndrome in mother, brother, and sister, and a maternal second cousin died from cerebral aneurysm at age 51. On examination, she was diaphoretic with temperature 36.6°C, heart rate 68, BP 143/87 mmHg bilaterally, respiratory rate 18, and oxygen saturation 100ensible digits but no cardiac murmurs, rubs, or gallops.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/29262281/tab/1.jpg"], "caption": "Laboratory results for troponin T at initial presentation and after 8 hours; hemoglobin, blood counts, electrolytes, renal function, glucose, and lipid panel.", "detailed_caption": "Laboratory results showed initial troponin T of 0.03 ng/dl rising to 0.21 ng/dl after 8 hours. Other results within normal ranges included hemoglobin, blood counts, electrolytes, renal function, glucose, and lipid panel.", "modalities": ["lab"]}, {"type": "fig", "id": 1, "subfig": null, "path": ["images/29262281/fig/2.jpg"], "caption": "ECG.", "detailed_caption": "ECG showed normal sinus rhythm and submillimeter down-sloping ST-segment depressions in leads V3, V4, and V5.", "modalities": ["electrophysiology"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/29262281/fig/3.jpg"], "caption": "(A) Coronary angiogram of the left coronary artery, right anterior oblique caudal view. (B) Coronary angiogram of the left coronary artery, left anterior oblique caudal view.", "detailed_caption": "Coronary Angiogram. An angiogram of the left coronary artery was obtained in the right anterior oblique caudal view (Panel A). Diffuse narrowing of the vessel lumen (arrow) and a filling defect (oval) are visible in the first obtuse marginal branch of the left circumflex coronary artery; these findings are consistent with an intimal tear and type 1 coronary-artery dissection. An angiogram of the left coronary artery was also obtained in the left anterior oblique caudal view (Panel B). Evidence of initiation of a coronary-artery dissection is visible in the first obtuse marginal branch, including narrowing of the vessel lumen (arrow) and staining of the vessel wall (circle); tortuosity of the coronary arteries is also shown.", "modalities": ["angiography"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/29262281/fig/4.jpg"], "caption": "(A) CT angiogram of the right kidney, oblique coronal reformatted multiplanar image, delayed phase. (B) CT angiogram of the left kidney, oblique coronal reformatted multiplanar image, delayed phase. (C) CT angiogram of the right renal artery, oblique coronal maximum-intensity-projection image, arterial phase. (D) CT angiogram of the left renal artery, oblique coronal maximum-intensity-projection image, arterial phase.", "detailed_caption": "CT Angiogram. Oblique coronal reformatted multiplanar images showing the long axis of the right and left kidney (Panels A and B, respectively) were obtained during the delayed phase. Bilateral, wedge-shaped cortical defects are visible (arrows); these findings are consistent with small, remote infarctions. Oblique coronal maximum-intensity-projection images showing the right and left renal arteries (Panels C and D, respectively) were obtained during the arterial phase. Paired right and single left renal arteries have subtle luminal irregularities (arrowheads).", "modalities": ["ct", "angiography"]}], "diagnosis": "Spontaneous coronary-artery dissection", "standardized_diagnosis": [{"original_term": "Spontaneous coronary artery dissection", "corrected_term": null, "code": "BA82", "title": "spontaneous coronary artery dissection", "chapter": "Diseases of the circulatory system", "primary": true}]}, "year": 2017, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "29514020", "patient_info": {"basic_info": "44-year-old male nurse who was working alone at a nursing post in Coral Bay, Australia (>1000 km from Perth, 150 km from nearest medical facility). Presented with severe chest pain and dizziness while on duty.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/29514020/fig/1.jpg"], "caption": "ECG.", "detailed_caption": "First ECG showed complete heart block, right bundle-branch block, hyperacute T waves in the inferior leads, and reciprocal ST-segment depression in the anterolateral leads", "modalities": ["electrophysiology"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/29514020/fig/2.jpg"], "caption": "Electrocardiogram performed 50 minutes later.", "detailed_caption": "Second ECG (50 minutes later) showed sinus tachycardia with 2 mm of inferior ST-segment elevation and reciprocal ST-segment depression in the anterolateral leads", "modalities": ["electrophysiology"]}], "diagnosis": "Inferior ST-segment elevation myocardial infarction (STEMI)", "standardized_diagnosis": [{"original_term": "Inferior ST-segment elevation myocardial infarction", "corrected_term": null, "code": "BA41.0&XA3RM8", "title": "Acute ST segment elevation myocardial infarction[inferior wall NOS]", "chapter": "Diseases of the circulatory system", "primary": true}]}, "year": 2018, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "29545357", "patient_info": {"basic_info": "A 44-year-old woman presented to her optometrist with a 10-week history of progressive blurred vision. She had no headaches or nausea. On examination, funduscopy showed bilateral papilloedema.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/29545357/fig/1.jpg"], "caption": "MRI of the brain, sagittal view, T1-weighted sequence post gadolinium.", "detailed_caption": "Sagittal T1 volume post gadolinium MRI shows a large, avidly enhancing, left frontal convexity extra axial mass with a broad dural base and bony hyperostosis. Mass effect with sulcal effacement and compression of left frontal lobe and distortion of the anterior body and genu of the corpus callosum is noted.", "modalities": ["mri"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/29545357/fig/2.jpg"], "caption": "MRI, axial view, T1-weighted sequence with gadolinium.", "detailed_caption": "Axial T1 volume post gadolinium MRI reconstruction shows the mass", "modalities": ["mri"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/29545357/fig/3.jpg"], "caption": "Coronal T1-weighted MRI with gadolinium contrast.", "detailed_caption": "Coronal T1 volume post gadolinium MRI reconstruction shows the mass", "modalities": ["mri"]}], "diagnosis": "Meningioma - WHO grade I lesion infiltrating the dura but not the brain", "standardized_diagnosis": [{"original_term": "Meningioma, WHO grade I", "corrected_term": null, "code": "2A01.0Z", "title": "Meningiomas", "chapter": "Neoplasms", "primary": true}]}, "year": 2018, "classification": "Neurological disorders"}
+{"pmid": "29674473", "patient_info": {"basic_info": "A previously healthy 44-year-old Chinese woman presented with a seven-week history of progressively worsening nausea and vomiting associated with 13 kg weight loss. She denied abdominal pain, distension, or diarrhea. Her symptoms had been initially treated as a functional gastrointestinal disorder with antidepressants (flupentixol, melitracen tablets, and olanzapine), prokinetics (domperidone), and anti-emetics (domperidone and ondansetron) for three weeks without response. Eight days after admission, she developed metabolic alkalosis, acute respiratory failure, and neurological deficits. On examination, she had paralysis of the right limbs, horizontal nystagmus, loss of pharyngeal reflex, loss of tendon reflex on the right side, and positive Babinski sign bilaterally. Laboratory studies showed normal liver, kidney, and thyroid function, normal basic autoimmune antibodies, normal fasting blood glucose and glycated hemoglobin. Serum AQP4-IgG antibodies were negative, but cerebrospinal fluid was positive for AQP4-IgG. Previous gastroscopy and abdominal CT scan showed no abnormalities.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/29674473/fig/1.jpg"], "caption": "MRI of the head, sagittal view, performed three weeks after the first episode.", "detailed_caption": "Initial sagittal MRI of the head taken three weeks after first episode showed a very small hyperintense lesion in the medulla oblongata, which was initially considered normal", "modalities": ["mri"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/29674473/fig/2.jpg"], "caption": "Sagittal T2-weighted MRI of the head and cervical spinal cord performed two months later.", "detailed_caption": "Follow-up sagittal T2-weighted MRI of the head two months later showed progression of the lesion to an extensive longitudinal hyperintense lesion involving the medulla oblongata and spinal cord at C1-C2", "modalities": ["mri"]}], "diagnosis": "Neuromyelitis optica spectrum disorder", "standardized_diagnosis": [{"original_term": "Neuromyelitis optica spectrum disorder", "corrected_term": null, "code": "8E4A.0", "title": "Neuromyelitis optica spectrum disorder", "chapter": "Diseases of the nervous system", "primary": true}]}, "year": 2018, "classification": "Neurological disorders"}
+{"pmid": "29800155", "patient_info": {"basic_info": "A 28-year-old healthy woman presented with a 2-week history of dyspnea, cough, wheezing, and lithoptysis (expectoration of calcific material). She had no significant past medical history and did not smoke, drink alcohol, or use illicit drugs. The patient was living in New England but had previously lived in Nebraska, Colorado, Mississippi, and Florida. Recent travel included visits to Uganda, Afghanistan, Albania, and Croatia, with frequent hiking and camping trips. Physical examination findings are not specifically detailed in the case report. A chest radiograph was unremarkable.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/29800155/fig/1.jpg"], "caption": "(A) Chest computed tomography (CT). (B) Three-dimensional reconstruction of chest CT (Slicer version 4.6.2).", "detailed_caption": " Left, Chest computed tomography (CT) scan. Right, Three-dimensional reconstruction of the chest CT (Slicer version 4.6.2, Brigham and Women’s Hospital).", "modalities": ["ct"]}], "diagnosis": "Broncholithiasis", "standardized_diagnosis": [{"original_term": "Broncholithiasis", "corrected_term": null, "code": "CB40.Y", "title": "Broncholithiasis", "chapter": "Diseases of the respiratory system", "primary": true}]}, "year": 2018, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "29954734", "patient_info": {"basic_info": "38-year-old male motorcyclist presented to emergency department after colliding with a car at high speed. Landed on outstretched right hand. Presented with painful, swollen right wrist. Motor and sensory neurological function of right radial, ulnar, and median nerves was intact. Radial pulse was palpable.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/29954734/fig/1.jpg"], "caption": "(A) Wrist radiograph, anteroposterior view. (B) Wrist radiograph, lateral view.", "detailed_caption": "Anteroposterior and lateral radiographs of the wrist showing volar dislocation of the lunate. Break in Gilula's arcs visible on anteroposterior view, indicating bony or ligamentous injury.", "modalities": ["x-ray"]}], "diagnosis": "Volar dislocation of the lunate", "standardized_diagnosis": [{"original_term": "Volar dislocation of the lunate", "corrected_term": null, "code": "ND56.3", "title": "dislocation NOS", "chapter": "Injury, poisoning or certain other consequences of external causes", "primary": true}]}, "year": 2018, "classification": "Orthopedic and connective tissue disorders"}
+{"pmid": "29880694", "patient_info": {"basic_info": "A 39-year-old male with no prior history of heart disease presented with symptoms of palpitations and weakness lasting for several hours. He had no family history of sudden cardiac death or arrhythmias. Initial ECG showed a wide complex tachycardia with left bundle branch block morphology, consistent with sustained ventricular tachycardia of right ventricular origin. The patient was experiencing hemodynamic instability.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/29880694/fig/1.jpg"], "caption": "ECG performed post-cardioversion; QRS complex duration 112 ms; S-waves upstroke 55 ms; leads V1–V3.", "detailed_caption": "Post-cardioversion ECG demonstrated inverted T-waves in leads V1-V3, with QRS complex duration of 112 ms, and prolonged S-waves upstroke of 55 ms", "modalities": ["electrophysiology"]}], "diagnosis": "Arrhythmogenic right ventricular cardiomyopathy (ARVC)", "standardized_diagnosis": [{"original_term": "Arrhythmogenic right ventricular cardiomyopathy", "corrected_term": null, "code": "BC43.6", "title": "arrhythmogenic right ventricular cardiomyopathy", "chapter": "Diseases of the circulatory system", "primary": true}]}, "year": 2018, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "29497514", "patient_info": {"basic_info": "A 74-year-old woman presented with general edema and macrohaematuria. Physical examination revealed mucocutaneous paleness, high arterial blood pressure (199/73 mmHg), and general edema. Laboratory findings showed acute renal failure (serum creatinine 1.8 mg/dL, urea 183 mg/dL), low total protein and albumin levels, and anemia. A monoclonal IgG-k was detected in the serum. The patient had nephrotic range proteinuria (5.26 g per 24h) with Bence Jones and hematuria (30-50 red blood cells per field). Bone marrow aspirate showed 9% plasma cells and cryoglobulins were negative. Complement studies showed normal immunoglobulin and C4 levels but reduced C3, suggesting complement alternative pathway activation. Factor H measurement revealed reduced levels, and anti-factor H autoantibodies were detected in the patient's serum.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/29497514/fig/1.jpg"], "caption": "Electron microscopy of the kidney.", "detailed_caption": "Electron microscopy showed irregular and discontinuous thickening of glomerular basement membranes with electron-dense and homogeneous deposits. Fibrillar deposits of approximately 27 nm in diameter were found in the mesangium and capillary walls.", "modalities": ["pathology"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/29497514/fig/2.jpg"], "caption": "(B) Western blot following SDS–PAGE using IgG-depleted normal human serum in lanes 1 and 3 and purified factor H in lane 2; lanes 1 and 2 probed with patient-purified IgG, lane 3 probed with polyclonal anti–factor H antibody.", "detailed_caption": "B: Figure 1 (B) presents a western blot in which SDS–PAGE was performed using IgG-depleted normal human serum (NHS) in lanes 1 and 3 and purified factor H in lane 2; after transfer, lanes 1 and 2 were probed with IgG purified from the patient, while lane 3 was probed with a polyclonal anti–factor H antibody that identifies factor H and some complement factor H–related proteins in NHS, with molecular weight markers and distinct protein bands identified on the blot.", "modalities": ["lab"]}, {"type": "fig", "id": 1, "subfig": "C", "path": ["images/29497514/fig/3.jpg"], "caption": "ELISA assay.", "detailed_caption": "ELISA assay showed anti-FH activity was associated mainly with monoclonal IgG-k", "modalities": ["lab"]}], "diagnosis": "Dense Deposit Disease (DDD) with fibrillar glomerulonephritis and anti-factor H autoantibodies associated with monoclonal gammopathy", "standardized_diagnosis": [{"original_term": "Dense deposit disease", "corrected_term": null, "code": "MF8Y", "title": "Glomerular disease with dense deposit disease", "chapter": "Diseases of the genitourinary system", "primary": true}, {"original_term": "Fibrillar glomerulonephritis", "corrected_term": null, "code": "GB40&XT5R", "title": "acute glomerulonephritis", "chapter": "Diseases of the genitourinary system", "primary": false}, {"original_term": "Anti-factor H autoantibody disease", "corrected_term": null, "code": "4A4Z", "title": "autoimmune disease NOS", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": false}, {"original_term": "Monoclonal gammopathy", "corrected_term": null, "code": "2A83.0", "title": "monoclonal gammopathy NOS", "chapter": "Neoplasms", "primary": false}]}, "year": 2012, "classification": "Endocrine and metabolic disorders"}
+{"pmid": "29853443", "patient_info": {"basic_info": "A 25-year-old man was referred to the oncology unit with a three-week history of a progressively enlarging neck lump and atypical lymphoid cells found on fine needle aspiration cytology. He reported mild exertional dyspnea and drenching night sweats, but denied weight loss, occupational exposure to harmful substances, recent travel, or high-risk sexual behavior. He had a smoking history since age 16. On physical examination, a palpable right supraclavicular lymph node measuring 3 cm in diameter was found. Chest radiography revealed a widened mediastinum but no lung lesions. Core biopsy of the lymph node showed partial effacement of nodal architecture by scattered large cells in a background of reactive lymphocytes, eosinophils, and plasma cells with some collagen fibrosis. These large cells stained positive for CD15 and CD30 and negative for CD45.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/29853443/fig/1.jpg"], "caption": "CT of the thorax, axial view, contrast enhanced.", "detailed_caption": "Axial contrast enhanced computed tomography of the thorax showing an anterior mediastinal mass, with a central hypodense area suggestive of necrosis.", "modalities": ["ct"]}], "diagnosis": "Classical Hodgkin's lymphoma", "standardized_diagnosis": [{"original_term": "Classical Hodgkin's lymphoma", "corrected_term": null, "code": "2B30.1Z", "title": "Classical Hodgkin lymphoma", "chapter": "Neoplasms", "primary": true}]}, "year": 2018, "classification": "Neoplastic diseases"}
+{"pmid": "29567767", "patient_info": {"basic_info": "A 69-year-old man presented after slipping in the snow with swelling and pain in the left knee. On physical examination, he was unable to extend his knee and had a palpable, visible indentation on the surface of his distal anterior thigh, above the patella. The injury was not open and he did not have substantial tension in the overlying skin. There was no neurovascular deficit.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/29567767/fig/1.jpg"], "caption": "Lateral radiograph of the left knee.", "detailed_caption": "Lateral radiograph of the left knee shows the left patella has dislocated around its horizontal axis with its articular surface facing inferiorly, and the upper pole of the patella is engaged in the intercondylar groove of the femur.", "modalities": ["x-ray"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/29567767/fig/2.jpg"], "caption": "Sagittal MRI of the left knee.", "detailed_caption": "Figure 3 is a sagittal magnetic resonance image of the left knee demonstrating an intra-articular dislocation of the patella (indicated by a blue arrow), a tear of the left quadriceps tendon (white arrow), and an intact patellar tendon (red arrow).", "modalities": ["mri"]}], "diagnosis": "Intra-articular patella dislocation with quadriceps tendon rupture", "standardized_diagnosis": [{"original_term": "Intra-articular patella dislocation", "corrected_term": null, "code": "NC93.1Z", "title": "Dislocation of patella", "chapter": "Injury, poisoning or certain other consequences of external causes", "primary": true}, {"original_term": "Quadriceps tendon rupture", "corrected_term": null, "code": "NC76.1Y", "title": "Rupture of quadriceps muscle or tendon", "chapter": "Injury, poisoning or certain other consequences of external causes", "primary": false}]}, "year": 2018, "classification": "Orthopedic and connective tissue disorders"}
+{"pmid": "29748223", "patient_info": {"basic_info": "A 58-year-old man presented with a six-week history of muscle weakness, dysphagia, and a symmetrical widespread rash on the face, torso, and limbs. Laboratory testing revealed elevated creatine kinase of 7070 u/L (reference range 30-175). An oesophagogastroduodenoscopy was performed and showed abnormal findings, and a PET CT scan was arranged.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/29748223/fig/1.jpg"], "caption": "Clinical photograph of the dorsum of the right hand at presentation.", "detailed_caption": "Figure 1 depicts a clinical photograph of the dorsum of the patient’s right hand, showing symmetrical erythematous papules and a rash consistent with Gottron's papules, which are characteristic cutaneous manifestations of dermatomyositis; the image demonstrates the anatomical site as the hand, but no specific technical modality or timing is described beyond this being on presentation.", "modalities": ["clinical"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/29748223/fig/2.jpg"], "caption": "PET CT of the mid esophagus.", "detailed_caption": "PET CT image shows high uptake of fluorodeoxyglucose in the mid esophagus", "modalities": ["pet/spect/nuclear", "ct"]}], "diagnosis": "Acute dermatomyositis with oesophageal cancer", "standardized_diagnosis": [{"original_term": "Acute dermatomyositis", "corrected_term": null, "code": "BC42.Z/4A41.0Z", "title": "acute myocarditis NOS[Dermatomyositis, unspecified]", "chapter": "Diseases of the circulatory system", "primary": false}, {"original_term": "Oesophageal cancer", "corrected_term": null, "code": "2B70.Z", "title": "Malignant neoplasms of oesophagus", "chapter": "Neoplasms", "primary": true}]}, "year": 2018, "classification": "Neoplastic diseases"}
+{"pmid": "29741568", "patient_info": {"basic_info": "60-year-old Japanese woman presented with a black nodule on the right postauricular area. Initial staging after radical resection and sentinel node biopsy was pT3aN0M0 stage IIA. At 19 months post-surgery, imaging detected right jugular lymph node and lung metastases. Seven courses of pembrolizumab treatment later, evaluation showed further lung metastasis and new liver metastasis. Tumor harbored BRAF V600E mutation. Thirteen days after starting dabrafenib/trametinib, patient developed fever and hepatosplenomegaly. Laboratory findings showed pancytopenia, hyperferritinemia, increased liver enzyme levels, and coagulation abnormalities.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "a", "path": ["images/29741568/fig/1.jpg"], "caption": "Clinical photograph of the arm taken during an acute febrile episode.", "detailed_caption": "A: Target-like (erythema multiforme-like) skin lesions are present on the patient’s arm, documented with a clinical photograph during the acute febrile episode following dabrafenib and trametinib therapy after anti-PD-1 treatment.", "modalities": ["clinical"]}, {"type": "fig", "id": 1, "subfig": "b", "path": ["images/29741568/fig/2.jpg"], "caption": "Skin biopsy.", "detailed_caption": "Skin biopsy showed vacuolization of basal cell layer and lymphocytic infiltration into dermoepidermal junction, consistent with erythema multiforme", "modalities": ["pathology"]}, {"type": "fig", "id": 1, "subfig": "c", "path": ["images/29741568/fig/3.jpg"], "caption": "Bone marrow smear.", "detailed_caption": "Bone marrow smear showed erythrocytes, myelocytes, and platelets being phagocytosed by macrophages, without evidence of hematologic malignancies", "modalities": ["pathology"]}], "diagnosis": "Hemophagocytic lymphohistiocytosis (HLH) during dabrafenib and trametinib combination therapy following pembrolizumab administration for advanced melanoma", "standardized_diagnosis": [{"original_term": "Hemophagocytic lymphohistiocytosis", "corrected_term": null, "code": "4A01.23", "title": "haemophagocytic lymphohistiocytosis NOS", "chapter": "Diseases of the immune system", "primary": true}, {"original_term": "Advanced melanoma", "corrected_term": null, "code": "2C30.Z&XS67", "title": "melanoma NOS[Locally advanced]", "chapter": "Neoplasms", "primary": false}]}, "year": 2018, "classification": "Neoplastic diseases"}
+{"pmid": "29916385", "patient_info": {"basic_info": "51-year-old woman with history of rheumatic heart disease (diagnosed 10 years ago). Presented with recent onset reduced level of consciousness and right-sided weakness. Neurological exam showed right-sided hemiplegia. Cardiovascular exam revealed atrial fibrillation with ventricular rate of 110 beats/min and diastolic murmur heard at apex.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/29916385/fig/1.jpg"], "caption": "CT of the chest, non-contrast.", "detailed_caption": "Non-contrast chest CT showed 6 cm diameter high attenuation circle in the left atrium", "modalities": ["ct"]}, {"type": "fig", "id": 1, "subfig": "B,C", "path": ["images/29916385/fig/2.jpg"], "caption": "Transthoracic echocardiography of the heart, left atrium.", "detailed_caption": "Transthoracic echocardiography revealed a mobile left atrial mass with concentric circles around periphery, severe mitral stenosis with dilated left atrium filled with dense spontaneous echo contrast, no left atrial appendage thrombus", "modalities": ["ultrasound"]}], "diagnosis": "Left atrial ball thrombus with severe mitral stenosis", "standardized_diagnosis": [{"original_term": "Left atrial ball thrombus", "corrected_term": null, "code": "BA41.Z", "title": "coronary thrombus", "chapter": "Diseases of the circulatory system", "primary": false}, {"original_term": "Severe mitral stenosis", "corrected_term": null, "code": "BB60.Z&XS25", "title": "mitral stenosis[Severe]", "chapter": "Diseases of the circulatory system", "primary": true}]}, "year": 2018, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "29391043", "patient_info": {"basic_info": "A 50-year-old postmenopausal woman (gravida 1, para 1) presented with abdominal distention, anorexia, and exertional dyspnoea. She had been in good health and was postmenopausal for 1 year. Physical examination revealed a markedly distended abdomen. CT of the abdomen and pelvis showed gross ascites extending under the diaphragm and a heterogeneous mass in the left adnexa, with part of the solid component having strong enhancement, plus small calcifications along the cystic wall. No lymphadenopathy or peritoneal dissemination was observed. Pelvic MRI showed the left pelvic mass with homogeneous low intensity on T1-weighted images and the solid parts including thick septa were uniformly low intensity on T2-weighted images and well enhanced on contrast-enhanced MRI, with no fatty components identified. Laboratory results showed serum CA 125 level of 1237 U/ml (normal <35 U/ml), while serum CEA, CA 19-9, and SCC levels were within normal ranges. Abdominal paracentesis performed multiple times showed benign mesothelial cells without malignant cells on cytological examination. ¹³¹I scintigraphy demonstrated strong uptake in the normal thyroid. The patient had no symptoms or clinical signs of thyroid hormone imbalance, with free-T3, free-T4, and thyroid stimulating hormone levels within normal ranges.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/29391043/fig/1.jpg"], "caption": "Transvaginal ultrasound of the pelvis.", "detailed_caption": "Transvaginal ultrasound showing marked ascites and a large solid and cystic mass with a diameter of 8 cm in the left ovary", "modalities": ["ultrasound"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/29391043/fig/2.jpg"], "caption": "Chest X-ray.", "detailed_caption": "Chest X-ray showing a massive right-sided pleural effusion", "modalities": ["x-ray"]}, {"type": "fig", "id": 1, "subfig": "C", "path": ["images/29391043/fig/3.jpg"], "caption": "CT scan.", "detailed_caption": "CT scans showing a solid component of the tumor with a higher attenuation lesion", "modalities": ["ct"]}, {"type": "fig", "id": 1, "subfig": "D", "path": ["images/29391043/fig/4.jpg"], "caption": "T2-weighted MRI.", "detailed_caption": "T2-weighted MRI showing the cystic lesions with various intensities separated by the septa", "modalities": ["mri"]}, {"type": "fig", "id": 2, "subfig": "A", "path": ["images/29391043/fig/5.jpg"], "caption": "FDG PET/CT of the pelvis.", "detailed_caption": "Pelvic FDG PET/CT shows lesions in the tumor without strong uptake of FDG", "modalities": ["pet/spect/nuclear", "ct"]}, {"type": "fig", "id": 2, "subfig": "B", "path": ["images/29391043/fig/6.jpg"], "caption": "131I scintigraphy of the pelvic region.", "detailed_caption": "¹³¹I scintigraphy shows strong uptake in the pelvic mass", "modalities": ["pet/spect/nuclear"]}], "diagnosis": "Struma ovarii with pseudo-Meigs' syndrome", "standardized_diagnosis": [{"original_term": "Struma ovarii", "corrected_term": null, "code": "5A02.Y", "title": "Struma ovarii", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": true}, {"original_term": "Pseudo-Meigs' syndrome", "corrected_term": null, "code": "8A02.0Y", "title": "Meige syndrome", "chapter": "Diseases of the nervous system", "primary": false}]}, "year": 2018, "classification": "Neoplastic diseases"}
+{"pmid": "29847754", "patient_info": {"basic_info": "A 40-year-old black woman presented with progressive edema of the legs, abdominal distention and pain. Her symptoms began 10 months prior with episodes of pain and swelling in feet and ankles, initially occurring in evenings after prolonged standing. The swelling progressed to involve lower legs and thighs. Five months before evaluation, she developed left back and flank pain. Her medical history included hypothyroidism, latent tuberculosis with previous negative chest radiograph, two spontaneous vaginal deliveries, ectopic pregnancy, hysterectomy for fibroid uterus, and appendectomy. Physical examination revealed temperature 36.8°C, pulse 76/min, blood pressure 131/70 mmHg, respiratory rate 20/min, oxygen saturation 97% on room air. Weight was 88.5 kg with BMI 29.7. She had 2+ edema of lower and upper legs, jugular venous pressure 8 cm water, distended and mildly tender abdomen with well-healed surgical scars.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/29847754/tab/1.jpg"], "caption": "Laboratory results. Urinalysis.", "detailed_caption": "Laboratory findings showed hemoglobin 12.4 g/dL, WBC 5920/mm3, platelets 295,000/mm3, normal electrolytes, creatinine 0.95 mg/dL, markedly low albumin 1.4 g/dL, calcium 7.0 mg/dL. Urinalysis showed 3+ protein, 1+ blood, pH 5.0.", "modalities": ["lab"]}, {"type": "fig", "id": 1, "subfig": null, "path": ["images/29847754/fig/2.jpg"], "caption": "(A) CT of the abdomen and pelvis, coronal reconstruction. (B) CT of the abdomen and pelvis, coronal reconstruction, different plane. (C) CT of the abdomen and pelvis, axial view.", "detailed_caption": "CT Scan of the Abdomen and Pelvis.  A coronal reconstruction image (Panel A) shows a filling defect in the right renal vein near the confluence with the inferior vena cava, a finding consistent with a nonocclusive thrombus (arrowhead), as well as mild perinephric fat stranding on the right side, a finding suggestive of edema (arrows). An image obtained on a different coronal plane (Panel B) shows wall thickening of the proximal small bowel and mild surrounding edema (arrowheads), as well as multiple enlarged mesenteric lymph nodes and mesenteric edema extending into the lower abdomen (arrows). An axial image (Panel C) shows findings consistent with small-volume ascites in the pelvis (arrowhead) and mild, symmetric soft-tissue edema bilaterally (arrows).", "modalities": ["ct"]}], "diagnosis": "Membranous nephropathy, PLA2R type", "standardized_diagnosis": [{"original_term": "Membranous nephropathy", "corrected_term": null, "code": "GB4Z", "title": "Glomerular disease associated with thin basement membrane nephropathy", "chapter": "Diseases of the genitourinary system", "primary": true}]}, "year": 2018, "classification": "Endocrine and metabolic disorders"}
+{"pmid": "30076168", "patient_info": {"basic_info": "A 31-year-old man with a background of sleep apnea was referred to the endocrine clinic for newly diagnosed hypertension. He had documented blood pressure readings of 170/128 mm Hg initially, with persistent hypertension on repeat measurements (164/110 mm Hg and 173/110 mm Hg). He complained of lethargy for the past six months and reported intermittent headaches. He was an ex-smoker with a 20 pack-year history. On examination, his heart rate was 106 beats per minute and body mass index was 34. There was no evidence of cushingoid features, hyperpigmentation, renal bruits, carotid bruits, or fine tremors. Apart from elevated blood pressure and raised BMI, physical examination was unremarkable. His full blood count, urea, and electrolyte levels were normal. Renal artery Doppler showed no evidence of renal artery stenosis.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/30076168/tab/1.jpg"], "caption": "Laboratory investigations including serum aldosterone, plasma direct renin concentration, aldosterone-to-renin ratio, 24-hour fractionated urinary metanephrine, 24-hour fractionated urinary normetanephrine, 24-hour urinary cortisol test, and low dose dexamethasone suppression test with adrenocorticotropic hormone.", "detailed_caption": "Laboratory investigations showed serum aldosterone 278 pmol/L (reference range 30-400 pmol/L), plasma direct renin concentration 1.8 mu/L (reference range 2-29 mu/L), aldosterone-to-renin ratio 157 (reference <55), 24 hour fractionated urinary metanephrine 0.03 mmol/mol (reference <0.10 mmol/mol), 24 hour fractionated urinary normetanephrine 0.19 mmol/mol (reference <0.25 mmol/mol), 24 hour urinary cortisol test 227 nmol/24 hour (reference <150 nmol/24 hour), and low dose dexamethasone suppression test showing post-dexamethasone cortisol 30 nmol/L (reference <50 nmol/L) with adrenocorticotropic hormone <10 ng/L (reference 10-50 ng/L).", "modalities": ["lab"]}], "diagnosis": "Primary aldosteronism", "standardized_diagnosis": [{"original_term": "Primary aldosteronism", "corrected_term": null, "code": "5A72.0", "title": "primary aldosteronism", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": true}]}, "year": 2018, "classification": "Endocrine and metabolic disorders"}
+{"pmid": "29922807", "patient_info": {"basic_info": "An 18-year-old male college student from the United States presented with a 6-month history of fatigue, dry cough, dyspnea, and unintentional weight loss of 18 kg (from 100 to 82 kg). He had been previously healthy with no travel history outside the US. Four months prior, he was treated for presumed pneumonia with azithromycin without improvement. He did not smoke, drink alcohol, or use intravenous drugs and took no medications. On examination, his vital signs showed temperature 37°C, heart rate 110/min, blood pressure 123/72 mmHg, and respiratory rate 20/min. Physical examination revealed a palpable 2×2-cm firm, nontender, right supraclavicular lymph node and decreased breath sounds with dullness to percussion in the right lower lung field. No hepatosplenomegaly or leg edema was noted. Routine laboratory tests, including complete blood cell counts, renal function, electrolytes, and hepatic function, were within normal limits.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/29922807/fig/1.jpg"], "caption": "CT of the chest, abdomen, and pelvis.", "detailed_caption": "Computed tomography scans of the chest, abdomen, and pelvis revealed a 15 × 11-cm centrally necrotic mass in the right anterior mediastinum displacing the trachea to the left, a large right pleural effusion, and compression of the superior vena cava", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/29922807/fig/2.jpg"], "caption": "Lymph node biopsy, hematoxylin-eosin staining, 50× magnification. Immunostaining.", "detailed_caption": "Lymph node biopsy sample showing binucleated Reed-Sternberg cells with prominent eosinophilic nucleolus, in a background of inflammatory cells (hematoxylin-eosin, ×50). Immunostaining confirmed the diagnosis", "modalities": ["pathology"]}], "diagnosis": "Hodgkin lymphoma", "standardized_diagnosis": [{"original_term": "Hodgkin lymphoma", "corrected_term": null, "code": "2B30.Z", "title": "Hodgkin lymphoma", "chapter": "Neoplasms", "primary": true}]}, "year": 2018, "classification": "Neoplastic diseases"}
+{"pmid": "29192001", "patient_info": {"basic_info": "A 3-year-old boy presented with a 3-week history of painless nail alterations. The changes were first noticed by his mother and included nail discoloration and brittle nails with cracks. The child was otherwise healthy but had been diagnosed with hand, foot, and mouth disease five weeks before the nail presentations. No toenails were involved. All nail changes moved distally with nail growth.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/29192001/fig/1.jpg"], "caption": "Clinical photograph of the dorsal aspect of both hands.", "detailed_caption": "Figure 1 is a clinical photograph showing the dorsal aspect of both hands of a 3-year-old boy, focusing on the thumbnails and fingernails. The image demonstrates proximal nail plate separation from the nail matrix on the right thumbnail and left index fingernail, a white transverse furrow in the right third fingernail, and a transverse, whitish, non-palpable, non-blanching line on the right fourth fingernail. This figure represents clinical documentation rather than imaging or laboratory analysis, illustrating nail changes consistent with onychomadesis, Beau’s line, and Mees’ line. The photograph was taken following a three-week history of painless nail alterations that appeared after a recent episode of hand, foot, and mouth disease.", "modalities": ["clinical"]}], "diagnosis": "Onychomadesis (complete nail plate separation), Beau's lines (white transverse depression), and Mees' lines (transverse leukonychia) secondary to hand, foot, and mouth disease", "standardized_diagnosis": [{"original_term": "Onychomadesis", "corrected_term": null, "code": "EE13.Y", "title": "Onychomadesis", "chapter": "Diseases of the skin", "primary": false}, {"original_term": "Beau's lines", "corrected_term": null, "code": "EE10.1Y", "title": "Beau lines", "chapter": "Diseases of the skin", "primary": false}, {"original_term": "Mees' lines", "corrected_term": null, "code": "FB86.0", "title": "Harris lines", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": false}, {"original_term": "Hand, foot, and mouth disease", "corrected_term": null, "code": "1F05.0", "title": "Hand, foot and mouth disease", "chapter": "Diseases of the skin", "primary": true}]}, "year": 2017, "classification": "Dermatologic and mucosal diseases"}
+{"pmid": "30021595", "patient_info": {"basic_info": "A 12-year-old boy from Sri Lanka was admitted with fever (38-39°C) of 4 days' duration and bilateral cervical lymphadenopathy. He had a significant medical history of being diagnosed with Kikuchi-Fujimoto disease (KFD) five years earlier while living in Sri Lanka, where he presented with intermittent fever of 12 days' duration, mild cough, abdominal pain, and significant bilateral cervical lymphadenopathy. On examination, he was febrile with painful lymphadenopathy (3 cm in diameter) on the right side of the neck and normal physical development. Initial investigations revealed mild increase in CRP (1.79 mg/dL) and hepatic enzymes (AST 51 IU, ALT 81 IU). Viral markers showed past CMV infection while markers for EBV, Toxoplasma gondii, Adenovirus and Parvovirus were negative. Angiotensin-converting enzyme levels were normal. A tuberculin intradermal reaction was negative. Blood tests confirmed increased hepatic enzymes, and hepatitis B, C and HIV viral markers were negative. Hepatic autoantibodies and LKM were negative, ANA and ASMA were mildly positive (ANA 1:80 homogeneous pattern, ASMA 1:80 vascular pattern), anti ds-DNA and complement fractions (C3 and C4) were normal. Due to persistence of intermittent fever, lymphadenopathy and appearance of a diffuse erythematous and itchy rash on the trunk, arms, and legs, an excisional lymph node biopsy was performed. The cytometric investigation showed B lymphocytes with non-malignant features, with just a reduced CD4 to CD8 lymphocyte ratio.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/30021595/fig/1.jpg"], "caption": "Lymph node biopsy, laterocervical region, 20× magnification.", "detailed_caption": "lymph node biopsy shows 3rd level laterocervical lesion with lymph node (1 cm in diameter) and tissue fragments (0.3 cm in largest). The lymph node shows only small subcapsular necrotic focus with karyorrhectic debris and several large immunoblastic cells at 20× magnification.", "modalities": ["pathology"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/30021595/fig/2.jpg"], "caption": "Tissue fragment, CD3 immunohistochemical staining.", "detailed_caption": "tissue fragment shows plasmacytoid histiocytes and large immunoblastic cells in a necrotic and karyorrhectic background, devoid of granulocytes. CD3 immunohistochemical stain demonstrates that most of the large cells have a T-cell phenotype.", "modalities": ["pathology"]}], "diagnosis": "Recurrent Kikuchi-Fujimoto disease (histiocytic necrotizing lymphadenitis)", "standardized_diagnosis": [{"original_term": "Kikuchi-Fujimoto disease", "corrected_term": null, "code": "4B2Y", "title": "Kikuchi-Fujimoto disease", "chapter": "Diseases of the immune system", "primary": true}, {"original_term": "Histiocytic necrotizing lymphadenitis", "corrected_term": null, "code": "4B2Y", "title": "Histiocytic necrotising lymphadenitis of Kikuchi and Fujimoto", "chapter": "Diseases of the immune system", "primary": false}]}, "year": 2018, "classification": "Infectious and immunologic disorders"}
+{"pmid": "29844891", "patient_info": {"basic_info": "28-year-old male who suddenly went into coma for 9 hours preceded by tonic-clonic seizures lasting 10 minutes. No fever, vomiting or micturition. No focal neurological signs. Past medical history was unremarkable. Neurological examination revealed normal cranial nerves, normal power and reflexes. Routine laboratory tests were normal.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/29844891/fig/1.jpg"], "caption": "CT of the brain, left frontoparietal lobe, frontal horn of left ventricle.", "detailed_caption": "Referral CT scans showed acute cerebral hemorrhage near the left frontoparietal lobe extending to frontal horn of left ventricle, with brain edema around hemorrhagic lesion and midline shift to the right", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/29844891/fig/2.jpg"], "caption": "(A–C) Brain MRI performed 1 week later, left frontoparietal lobe, axial, coronal, and sagittal T1-weighted images. (D, E) Brain MRI, axial T2-weighted images. (F) Brain MRI, FLAIR sequence.", "detailed_caption": "MRI done 1 week later revealed cerebral ring enhancing lesion (4.6×3.4×4.0 cm) at left frontoparietal lobe, appearing hypo-dense on T1 and hyper-dense on T2. FLAIR showed slightly mixed signals with no significant enhancement after contrast. Significant peripheral edema and swelling of adjacent brain tissue, with small blood clot at right side of falx. Left frontal horn compressed, right ventricle normal, slight midline shift to right. A-C) are axial, coronal and sagittal T1 image respectively. D,E) are axial T2 images while 2F is FLAIR. ", "modalities": ["mri"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/29844891/fig/3.jpg"], "caption": "CT-angiography of the intracranial arteries.", "detailed_caption": "CT-angiography revealed stenosis of main intracranial arteries with no obvious signs of ectasia or vascular abnormalities", "modalities": ["ct", "angiography"]}, {"type": "fig", "id": 5, "subfig": null, "path": ["images/29844891/fig/4.jpg"], "caption": "(A) Evacuated hematoma. (B) H&E staining, 400× magnification. (C) GFAP immunohistochemical staining, 400× magnification. (D) Oligo2 immunohistochemical staining, 400× magnification. (E) IDH-1 immunohistochemical staining, 400× magnification. (F) ATRX immunohistochemical staining, 400× magnification. (G) P53 immunohistochemical staining, 400× magnification. (H) MIB-1 immunohistochemical staining, 400× magnification, Ki-67=40%.", "detailed_caption": "Immunohistochemical staining showed tumor cells that were GAFP (+), Oligo2 (+), EMA (-), IDH-1 (+), ATRX (+), P53 (+) and 40% Ki-67(+) rate. A) Is the evacuated hematoma, while B-H) are images of varies immunohistochemical staining. B) HE 400×, C) GFAP 400×, D) Oligo2 400×, E) IDH-1 400×, F) ATRX 400×, G) P53 400×, H) MIB-1 400×.", "modalities": ["pathology"]}], "diagnosis": "Glioblastoma Multiforme (GBM) WHO grade 4, confirmed by immunohistochemical staining", "standardized_diagnosis": [{"original_term": "Glioblastoma Multiforme", "corrected_term": null, "code": "2A00.00", "title": "Glioblastoma multiforme of brain", "chapter": "Neoplasms", "primary": true}]}, "year": 2018, "classification": "Neoplastic diseases"}
+{"pmid": "29744825", "patient_info": {"basic_info": "51-year-old female with confirmed Birt-Hogg-Dubé syndrome (BHD), diagnosed 3 years prior through genetic testing showing a 4 bp deletion in one copy of FLCN gene. Initially asymptomatic regarding laryngeal mass, which was incidentally discovered during intubation for an open partial nephrectomy. No cervical lymphadenopathy. Had a brother recently diagnosed with renal tumor. No other significant past medical history. Physical examination via flexible nasendoscopy showed smooth mass around right aryepiglottic fold and right arytenoid, with reduced movement of right vocal cord.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/29744825/fig/1.jpg"], "caption": "MRI of the neck with contrast, right piriform fossa and right supraglottis, mass diameter 28 mm.", "detailed_caption": "MRI neck with contrast showed 28 mm diameter mass centered on right piriform fossa and extending into right supraglottis without associated lymphadenopathy", "modalities": ["mri"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/29744825/fig/2.jpg"], "caption": "(A) MRI, coronal view, T1-weighted sequence. (B) MRI, sagittal view, T1-weighted sequence. (C) MRI, axial view, T2-weighted sequence.", "detailed_caption": "Endoscopic image showing laryngeal mass in the right piriform fossa. a T1-weighted coronal, b T1-weighted sagittal, c T2-weighted axial", "modalities": ["mri"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/29744825/fig/3.jpg"], "caption": "(A) H&E staining of rhabdomyoma, 200× magnification. (B) H&E staining of rhabdomyoma, 400× magnification. (C) Immunohistochemistry of rhabdomyoma for desmin, 400× magnification. (D) Immunohistochemistry of rhabdomyoma for S100, 100× magnification. (E) Immunohistochemistry of rhabdomyoma for myogenin, 200× magnification. (F) Immunohistochemistry of rhabdomyoma for MyoD1, 400× magnification.", "detailed_caption": "a Rhabdomyoma composed of polygonal cells with abundant eosinophilic cytoplasm, bland nuclei and scanty nucleation. Haematoxylin and Eosin ×200. b Rhabdomyoma with cells demonstrating cross striations (arrow). Haematoxylin and Eosin ×400. c Rhabdomyoma, with immunohistochemistry confirming expression of desmin with evidence of cross striations (arrow) ×400. d Rhabdomyoma, with a few scattered nuclei expressing S100×100. e Rhabdomyoma showing patchy expression of myogenin ×200. f Rhabdomyoma stained for MyoD1 expression ×400", "modalities": ["pathology"]}], "diagnosis": "Adult-type rhabdomyoma of the larynx in a patient with Birt-Hogg-Dubé syndrome", "standardized_diagnosis": [{"original_term": "Adult-type rhabdomyoma of the larynx", "corrected_term": null, "code": "2E86.2", "title": "Adult rhabdomyoma", "chapter": "Neoplasms", "primary": true}, {"original_term": "Birt-Hogg-Dubé syndrome", "corrected_term": null, "code": "LD27.5", "title": "Birt-Hogg-Dubé syndrome", "chapter": "Diseases of the skin", "primary": false}]}, "year": 2019, "classification": "Genetic and congenital disorders"}
+{"pmid": "30018883", "patient_info": {"basic_info": "A 70-year-old female patient presented with lower abdominal pain persisting for 5 months. The pain was initially intermittent but progressively worsened, requiring narcotic management. She reported constipation without rectal bleeding, and developed urinary retention requiring a Foley catheter, which revealed hematuria. Associated symptoms included anorexia, nausea, abdominal bloating, and worsening bilateral leg edema. She denied vomiting, hematemesis, chest pain, melena, jaundice, fever, chills, night sweats, or weight loss. The patient had no history of heart disease, rheumatic fever, neurological disorder, diabetes, ulcers, asthma, tuberculosis, kidney, liver, or thyroid disease, and had no suspicious skin lesions.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/30018883/fig/1.jpg"], "caption": "CT of the pelvis.", "detailed_caption": "CT scan showed a large heterogeneous but predominantly fatty pelvic mass compressing the bowel and bladder.", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/30018883/fig/2.jpg"], "caption": "(A) Pelvic MRI, axial view, nonfat saturated T2-weighted sequence. (B) Pelvic MRI, axial view, fat saturated T2-weighted sequence.", "detailed_caption": "Axial nonfat saturated (A) and fat saturated (B) T2-weighted MRI images of the pelvis also demonstrates a large fat containing mass within the presacral region (arrowheads). Bright fat on nonfat saturated image (A) saturates out on the fat saturated image (B) (arrows).", "modalities": ["mri"]}, {"type": "tab", "id": 1, "subfig": null, "path": ["images/30018883/tab/3.jpg"], "caption": "FISH analysis of 200 interphase cells per probe using 4 DNA probes.", "detailed_caption": "FISH analysis summary showed examination of 200 interphase cells per probe with 4 DNA probes.", "modalities": ["genetic"]}, {"type": "tab", "id": 2, "subfig": null, "path": ["images/30018883/tab/4.jpg"], "caption": "MDM2 FISH analysis.", "detailed_caption": "MDM2 FISH analysis showed MDM2/CEP 12 ratio of 1.0, indicating no amplification of the MDM2 gene.", "modalities": ["pathology"]}], "diagnosis": "Adrenal myelolipoma in the presacral region", "standardized_diagnosis": [{"original_term": "Adrenal myelolipoma", "corrected_term": null, "code": "2E80.0Z", "title": "Lipoma", "chapter": "Neoplasms", "primary": true}]}, "year": 2018, "classification": "Neoplastic diseases"}
+{"pmid": "30184453", "patient_info": {"basic_info": "A 55-year-old man, born and raised in Pakistan who immigrated to the US mid-Atlantic region in his 30s, presented with a 3-month history of intermittent fevers and fatigue after returning from a 5-month visit to Pakistan. His medical history included coronary artery disease, stroke, hypertension, hyperlipidemia, and gastroesophageal reflux disease. He was a retired restaurant owner with a 60 pack-year smoking history but quit 12 years prior. Initial symptoms evolved to include daily fevers, drenching night sweats, nonproductive cough, and myalgias. Physical examination revealed temperature 38.4°C, pulse 116/min, BP 124/88 mmHg, respiratory rate 16/min, and oxygen saturation 97% on room air. Laboratory findings showed pancytopenia with WBC 3bin 13.1 g/dL, platelets 127,000/mm³, elevated liver enzymes (AST 119 U/L, ALT 48 U/L), elevated ESR (37 mm/hr) and CRP (2.9 mg/dL). The patient later developed confusion, early satiety, nausea, and abdominal distention.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/30184453/fig/1.jpg"], "caption": "(A) CT of the abdomen and pelvis, axial view. (B) CT of the abdomen and pelvis, coronal view.", "detailed_caption": "CT images of abdomen and pelvis showing splenomegaly in both axial (A) and coronal (B) views", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/30184453/fig/2.jpg"], "caption": "(A) Skin biopsy, H&E staining. (B) Skin biopsy, immunostaining for CD20.", "detailed_caption": "Skin biopsy showing malignant large B cells within small-vessel lumen (H&E staining) (A) and CD20-positive (B) malignant cells (immunostaining)", "modalities": ["pathology"]}], "diagnosis": "Intravascular B-cell lymphoma", "standardized_diagnosis": [{"original_term": "Intravascular B-cell lymphoma", "corrected_term": null, "code": "2A81.1", "title": "Intravascular large B-cell lymphoma", "chapter": "Neoplasms", "primary": true}]}, "year": 2018, "classification": "Neoplastic diseases"}
+{"pmid": "30021095", "patient_info": {"basic_info": "A 36-year-old man, sexually active with men, presented to the emergency department with a 2-week history of fever, headache, drowsiness, and photophobia. He was previously healthy. Physical examination revealed a temperature of 38.3°C and neck stiffness. CT of the head was normal. Lumbar puncture showed an opening pressure of 29 cm of water (ref: <20 cm). CSF analysis revealed: cell count 340 cells/µL (90% mononuclear cells, predominantly lymphocytes), glucose 46 mg/dL, and protein 0.80 g/L. HIV antibody test was positive with viral load 300,000 copies/mL and CD4+ count of 7 cells/µL.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/30021095/fig/1.jpg"], "caption": "Gram stain of cerebrospinal fluid obtained on admission, light microscopy.", "detailed_caption": "A: Gram’s stain of cerebrospinal fluid obtained on admission demonstrates abundant encapsulated, round yeasts, some with budding forms, consistent with Cryptococcus neoformans seen under light microscopy.", "modalities": ["lab", "pathology"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/30021095/fig/2.jpg"], "caption": "India ink stain.", "detailed_caption": "India ink stain showed abundant encapsulated, round yeasts, with some budding forms", "modalities": ["pathology"]}], "diagnosis": "Cryptococcus neoformans Meningoencephalitis", "standardized_diagnosis": [{"original_term": "Cryptococcal meningoencephalitis", "corrected_term": null, "code": "1F27.10", "title": "Cryptococcal meningoencephalitis", "chapter": "Certain infectious or parasitic diseases", "primary": true}]}, "year": 2018, "classification": "Infectious and immunologic disorders"}
+{"pmid": "29903774", "patient_info": {"basic_info": "69-year-old man with type 2 diabetes mellitus, obesity, hypertension, and coronary artery disease. Patient experienced dizziness and intermittent weakness in the left hand over past six months. Visual acuities and intra-ocular pressures were normal, and slit lamp examination of anterior segment of both eyes was unremarkable.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/29903774/fig/1.jpg"], "caption": "Ultrawide field colour fundus image of the retina, left eye, acquired during ophthalmic evaluation.", "detailed_caption": "Figure 1 is an ultrawide field colour fundus image of the left eye demonstrating diffuse intraretinal haemorrhages in the retinal midperiphery, arterial narrowing, and venous dilation; the anatomical site examined is the retina of the left eye, and the imaging modality is ultrawide field colour photography, with the scan acquired during ophthalmic evaluation for unilateral retinopathy.", "modalities": ["ophthalmic imaging"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/29903774/fig/2.jpg"], "caption": "Autofluorescence imaging of the retinal midperiphery.", "detailed_caption": "Autofluorescence image showing diffuse intraretinal hemorrhages in retinal midperiphery, arterial narrowing, and venous dilation", "modalities": ["ophthalmic imaging"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/29903774/fig/3.jpg"], "caption": "Wide field fluorescein angiography of the left eye.", "detailed_caption": "Wide field fluorescein angiography of left eye shows delayed and patchy choroidal filling, delayed retinal arteriovenous filling, peripheral areas of retinal capillary non-perfusion, and blocked fluorescence from intraretinal hemorrhages", "modalities": ["angiography"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/29903774/fig/4.jpg"], "caption": "Doppler carotid ultrasonography of the left internal carotid artery.", "detailed_caption": "Doppler carotid ultrasonography reveals complete occlusion of the left internal carotid artery with calcific, heterogenous plaques", "modalities": ["ultrasound"]}], "diagnosis": "Ocular ischemic syndrome due to unilateral retinopathy with ipsilateral carotid occlusive disease", "standardized_diagnosis": [{"original_term": "Ocular ischemic syndrome", "corrected_term": null, "code": "DA90.0", "title": "THE - [tricho-hepato-enteric] syndrome", "chapter": "Diseases of the digestive system", "primary": true}, {"original_term": "Retinopathy", "corrected_term": null, "code": "9B71.Z", "title": "Retinopathy", "chapter": "Diseases of the visual system", "primary": false}, {"original_term": "Carotid occlusive disease", "corrected_term": null, "code": "BE2Y", "title": "occlusive disease NOS", "chapter": "Diseases of the circulatory system", "primary": false}]}, "year": 2018, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "30687305", "patient_info": {"basic_info": "A 67-year-old previously healthy male presented with a 4-month history of dry cough, wheezing, and mild dyspnea that had initially been diagnosed as eosinophilic asthma at another hospital, with symptoms worsening despite treatment with inhaled bronchodilators and corticosteroids. He had no smoking history and unremarkable medical history. On examination, he required 1L nasal cannula oxygen with SaO2 of 96%, had decreased breath sounds in the right lower lung field with fine crackles, and no raised JVP, murmurs, gallop, or peripheral edema. Chest x-ray showed right ground glass opacities, and high-resolution CT revealed ground glass opacities surrounded by consolidation in the right lower lung field.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/30687305/tab/1.jpg"], "caption": "Laboratory test results.", "detailed_caption": "Laboratory findings showed WBC 7,770/μL with 53.5% eosinophils, RBC 366×10⁴/μL, hemoglobin 8.6 g/dL, platelets 25.5×10⁴/μL, C-reactive protein 2.66 mg/dL (elevated), LDH 243 IU/L (slightly elevated), IgE 254 IU/mL (normal), and soluble IL-2 receptor 495 U/mL (normal). Infectious markers for HBs-Ag, HBs-Ab, HCV-Ab, and HIV-Ab were all negative. Autoimmune markers including ANA, Jo-1-Ab, RF, PR3-ANCA, and MPO-ANCA were all negative. TARC was 119 pg/mL. Arterial blood gas analysis showed pH 7.549, pCO2 27.1 mmHg, pO2 68.2 mmHg, and HCO3 23.1 mmol/L.", "modalities": ["lab"]}, {"type": "fig", "id": 1, "subfig": null, "path": ["images/30687305/fig/2.jpg"], "caption": "(A) Bone marrow aspirate smear, Wright-Giemsa staining, 400× magnification. (B) Bone marrow aspirate smear, Wright-Giemsa staining, 400× magnification.", "detailed_caption": "Bone marrow eosinophilia. A representative Wright-Giemsa stain, (×400) of bone marrow aspirate smears of the patient. Notice the presence of various immature eosinophils, including eosinophilic band and Polymorphonuclear eosinophils (A), as well as eosinophilic myelocyte and eosinophilic metamyelocyte (B).", "modalities": ["pathology"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/30687305/fig/3.jpg"], "caption": "Genetic analysis of bone marrow cells.", "detailed_caption": "Chromosomal analysis of bone marrow cells revealed 46,XY,+1,der(1;7)(q10;p10) in 13 of 20 metaphases, showing allelic imbalance of trisomy 1q and monosomy 7q. The patient was negative for PDGFRA, PDGFRB rearrangement, FGFR1, and JAK2 mutations.", "modalities": ["genetic"]}], "diagnosis": "Myelodysplastic syndrome (refractory cytopenias with multilineage dysplasia type)", "standardized_diagnosis": [{"original_term": "Myelodysplastic syndrome", "corrected_term": null, "code": "2A3Z", "title": "Myelodysplastic syndromes, unspecified", "chapter": "Neoplasms", "primary": false}, {"original_term": "Refractory cytopenias with multilineage dysplasia", "corrected_term": null, "code": "2A34", "title": "Refractory cytopenia with multi-lineage dysplasia", "chapter": "Neoplasms", "primary": true}]}, "year": 2018, "classification": "Neoplastic diseases"}
+{"pmid": "29441738", "patient_info": {"basic_info": "A 13-month-old male infant presented to the Department of Dermatology with a single asymptomatic plaque on the lower back that was first noticed by parents at approximately 4 months of age. During observation, the lesion gradually became larger and firmer, and intermittent sweating on the surface was noticed.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/29441738/fig/1.jpg"], "caption": "Clinical photograph of the lumbar area at 6 months of age.", "detailed_caption": "Shows a 4×2-cm normal skin-colored soft nodule on the lumbar area with hypertrichosis on the surface at 6 months of age.", "modalities": ["clinical"]}, {"type": "fig", "id": 2, "subfig": "A", "path": ["images/29441738/fig/2.jpg"], "caption": "T2-weighted MRI of the lumbar spine at L3-4 level.", "detailed_caption": "T2-weighted MRI showed an abnormal mass in the subcutaneous fat layer at the L3-4 level, not connected to the spinal cord.", "modalities": ["mri"]}, {"type": "fig", "id": 2, "subfig": "B", "path": ["images/29441738/fig/3.jpg"], "caption": "Ultrasonography of the subcutaneous fat layer at the L3-4 level.", "detailed_caption": "Ultrasonography showed a 4×2-cm abnormal echogenicity in the subcutaneous fat layer at the L3-4 level.", "modalities": ["ultrasound"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/29441738/fig/4.jpg"], "caption": "Clinical photograph of the lumbar area at 13 months of age.", "detailed_caption": "Shows a 5×3-cm normal skin-colored nodule on the lumbar area with localized prominent hypertrichosis at 13 months of age.", "modalities": ["clinical"]}, {"type": "fig", "id": 4, "subfig": "A", "path": ["images/29441738/fig/5.jpg"], "caption": "Punch biopsy of lumbar skin lesion, H&E staining.", "detailed_caption": "A: Hematoxylin and eosin (H&E) stained section of a punch biopsy specimen from the lumbar skin lesion demonstrates mature hair follicular structures and fat tissue in the dermis, without specification of magnification, representing the histopathological findings characteristic of fibrous hamartoma of infancy.", "modalities": ["pathology"]}, {"type": "fig", "id": 4, "subfig": "B", "path": ["images/29441738/fig/6.jpg"], "caption": "Histopathological section of the skin, punch biopsy, H&E staining.", "detailed_caption": "B: Histopathological section of the skin obtained by punch biopsy, stained with hematoxylin and eosin, showing well-defined fibrous trabeculae composed of spindle cells and an increased number of eccrine glands admixed with mature adipose tissue in the lower reticular dermis.", "modalities": ["pathology"]}, {"type": "fig", "id": 4, "subfig": "C", "path": ["images/29441738/fig/7.jpg"], "caption": "Skin punch biopsy from lumbar region, H&E staining, intermediate magnification.", "detailed_caption": "C: Histopathological examination of a skin punch biopsy from the lumbar plaque demonstrates primitive mesenchymal tissue in the lower reticular dermis, visualized using hematoxylin and eosin (H&E) staining at intermediate magnification.", "modalities": ["pathology"]}, {"type": "fig", "id": 4, "subfig": "D", "path": ["images/29441738/fig/8.jpg"], "caption": "Immunohistochemical staining for smooth muscle actin on a skin biopsy specimen.", "detailed_caption": "D: Immunohistochemical staining for smooth muscle actin on a skin biopsy specimen from the lesion, demonstrating positive staining of spindle cells, as shown in the lower reticular dermis, supporting the identification of myofibroblastic differentiation in the examined tissue (as seen in Figure 4D on page 3).", "modalities": ["pathology"]}], "diagnosis": "Fibrous hamartoma of infancy with eccrine hyperplasia", "standardized_diagnosis": [{"original_term": "Fibrous hamartoma of infancy", "corrected_term": null, "code": "LC2Y", "title": "Fibrous hamartoma of infancy", "chapter": "Developmental anomalies", "primary": true}, {"original_term": "Eccrine hyperplasia", "corrected_term": null, "code": "FB86.1Z", "title": "Bone hyperplasias", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": false}]}, "year": 2018, "classification": "Dermatologic and mucosal diseases"}
+{"pmid": "30736425", "patient_info": {"basic_info": "A 19-year-old previously healthy gravida 3 para 2002 female presented at 28 weeks' gestation after emigrating to the U.S. at 25 weeks of gestation. During the 20th week of gestation, she experienced a maculopapular rash, conjunctivitis, fever, and headache. She and her spouse had unprotected intercourse through the first and second trimester. The patient's initial fetal ultrasound with neurosonography revealed cerebral ventriculomegaly (20-25 mm) with dangling choroid, prominent 3rd ventricle, and a widened cavum septum pellucidum. Amniocentesis showed negative NAT for ZIKV with no evidence of chromosomal variations by CMA; TORCH panel was negative.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/30736425/fig/1.jpg"], "caption": "Timeline summarizing exposure risk, clinical findings, laboratory testing (nucleic acid testing and serologic IgM), estimated date of delivery, gestational age, and timing of prenatal ultrasound and/or MRI, for four subjects.", "detailed_caption": "Figure 1 presents a timeline summarizing the exposure risk, clinical findings, and standard clinical laboratory testing for ZIKV among four subjects, with the gestational period outlined by a checked box and possible windows of endemic exposure (orange bar) as well as the timing of maternal ZIKV screening by nucleic acid testing (NAT) or serologic IgM, distinguished by type and fluid tested (blue/purple legend); the estimated date of delivery and gestational age are indicated, and key prenatal imaging findings by ultrasound (US) and/or MRI, as well as timing of delivery, are annotated for each case.", "modalities": ["clinical", "lab", "ultrasound", "mri"]}, {"type": "fig", "id": 2, "subfig": "A", "path": ["images/30736425/fig/2.jpg"], "caption": "Fetal neurosonography at 31 weeks and 1 day.", "detailed_caption": "Fetal neurosonography at 31w1d showed thinning of the cortex, reduced subarachnoid space, bilateral ventriculomegaly, punctiform calcifications within basal ganglia, and dysplastic cavum septum pellucidum", "modalities": ["ultrasound"]}, {"type": "fig", "id": 2, "subfig": "B", "path": ["images/30736425/fig/3.jpg"], "caption": "(A) MRI at 31 weeks 1 day, axial view. (B) MRI at 31 weeks 1 day, sagittal view.", "detailed_caption": "Axial (i) and sagittal (ii) MRI at 31w1d revealed bilateral ventriculomegaly, abnormal sulcation pattern in Sylvian fissure, absent dorsal cavum septum pellucidum leaflets, and thin corpus callosum near the splenium", "modalities": ["mri"]}], "diagnosis": "Congenital Zika Syndrome with prenatal evidence of brain malformations", "standardized_diagnosis": [{"original_term": "Congenital Zika syndrome", "corrected_term": null, "code": "1D48", "title": "Zika virus disease", "chapter": "Certain infectious or parasitic diseases", "primary": true}, {"original_term": "Brain malformation", "corrected_term": null, "code": "LA05.Z", "title": "Malformations of brain", "chapter": "Developmental anomalies", "primary": false}]}, "year": 2019, "classification": "Genetic and congenital disorders"}
+{"pmid": "30264706", "patient_info": {"basic_info": "A 64-year-old man presented with neutropenia, bilateral symmetrical joint pain, and morning stiffness in multiple joints, along with weight loss, fevers, increased sweating, and fatigue for 2 months. Physical examination revealed bilateral synovitis in the elbow, wrist, metacarpophalangeal, proximal interphalangeal, and ankle joints, with no lymphadenopathy or splenomegaly. Laboratory findings showed hemoglobin 12.1 g/dL, platelets 272 × 10⁹/L, and white blood cell count 1.7 × 10⁹/L (21% neutrophils, 55% lymphocytes, 17% monocytes, 3% basophils, 4% eosinophils). T-cell large granular lymphocyte count was 0.53 × 10⁹/L. C-reactive protein was 80.4 mg/L with elevated erythrocyte sedimentation rate of 129 mm/h. Rheumatoid factor (23 IU/mL) and anti-cyclic citrullinated peptide antibodies (>25 U/mL) were markedly elevated. Flow cytometry showed 61.76% of lymphocytes positive for CD3 and CD8, with 2% atypical T-cell populations showing loss of CD5 and CD7. PCR analysis revealed clonal T-cell receptor γ and β chain gene rearrangements.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/30264706/fig/1.jpg"], "caption": "Peripheral blood smear, Wright-Giemsa stain, 100× magnification.", "detailed_caption": "A: Peripheral blood smear showing a T-cell large granular lymphocyte using Wright-Giemsa stain at an original magnification of ×100.", "modalities": ["pathology"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/30264706/fig/2.jpg"], "caption": "Bone marrow biopsy, histopathological examination, 100× magnification.", "detailed_caption": "B: Hypercellular bone marrow is shown under histopathological examination of a biopsy sample, with original magnification ×100.", "modalities": ["pathology"]}, {"type": "fig", "id": 1, "subfig": "C", "path": ["images/30264706/fig/3.jpg"], "caption": "Immunohistochemical staining of bone marrow biopsy.", "detailed_caption": "Linear arrays of cytotoxic T cells seen with immunohistochemical staining of bone marrow biopsy", "modalities": ["pathology"]}], "diagnosis": "T-cell large granular lymphocytic leukaemia (T-LGL) in the context of rheumatoid arthritis", "standardized_diagnosis": [{"original_term": "T-cell large granular lymphocytic leukaemia", "corrected_term": null, "code": "2A90.1", "title": "T-cell large granular lymphocytic leukaemia", "chapter": "Neoplasms", "primary": true}, {"original_term": "Rheumatoid arthritis", "corrected_term": null, "code": "FA20.Z", "title": "Rheumatoid arthritis", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": false}]}, "year": 2018, "classification": "Infectious and immunologic disorders"}
+{"pmid": "31089509", "patient_info": {"basic_info": "A 51-year-old female presented to the emergency room with general weakness and hyperglycemia. She had been diagnosed with type 2 diabetes in March 2014, with initial fasting plasma glucose of 140 mg/dL. Three days before admission, her blood glucose levels gradually increased to over 400 mg/dL, with worsening polydipsia and general weakness. On admission, she was alert with blood pressure 100/60 mmHg, respiratory rate 18 breaths/min, heart rate 103 beats/min, and temperature 36.2°C. Her height was 155.4 cm, weight 60.5 kg, and BMI 25.05 kg/m2, with no recent weight changes. Chest X-rays and abdominal CT showed no abnormal findings except for moderately fatty liver.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/31089509/tab/1.jpg"], "caption": "Laboratory results. Arterial blood gas analysis. Urinalysis.", "detailed_caption": "Initial laboratory findings showed: WBC 8,300/μL, hemoglobin 12.3 g/dL, platelets 201x10³/μL, glucose 431 mg/dL, elevated urea/creatinine (25.0/1.09 mg/dL), sodium/potassium/chloride 132.1/4.6/100 mEq/L, osmolarity 309 mOsmol/kg, amylase/lipase 69/120 U/L, CRP 4.1 mg/dL. Arterial blood gas showed metabolic acidosis with pH 7.17, PaCO2 22 mmHg, PaO2 109 mmHg, HCO3- 8.0 mmol/L, SaO2 97%. Urinalysis was positive for glucose (3+) and ketones (3+). Additional tests showed HbA1c 7.0%, very low fasting C-peptide (0.01 pmol/mL), and negative results for GAD-Ab, ICA, and IAA.", "modalities": ["lab"]}], "diagnosis": "Fulminant type 1 diabetes occurring in a patient previously diagnosed with type 2 diabetes mellitus", "standardized_diagnosis": [{"original_term": "Fulminant type 1 diabetes mellitus", "corrected_term": null, "code": "5A10", "title": "Fulminant type 1 diabetes mellitus", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": true}, {"original_term": "Type 2 diabetes mellitus", "corrected_term": null, "code": "5A11", "title": "Type 2 diabetes mellitus", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": false}]}, "year": 2017, "classification": "Endocrine and metabolic disorders"}
+{"pmid": "30912457", "patient_info": {"basic_info": "A 46-year-old Chinesed with bilateral tumor-like nodules over his neck that had been present for 6 months and developed edema for 15 days. The neck nodules were painless without pruritus or dermatitis and had enlarged over the 6-month period. He experienced a 10 kg weight loss during the past 6 months without symptoms such as fever, cough, diarrhea, or oliguria. Physical examination revealed blood pressure of 145/90 mmHg, multiple 1×1 cm hard and movable masses over bilateral post-auricular and submandibular areas with intact overlying skin and sharp boundaries, and trace edema of the lower extremities. Laboratory findings showed markedly increased peripheral eosinophil count at 3.66×10⁹/L (50% of total leukocytes), normal serum creatinine, 24-hour urine total protein of 8 g, serum albumin of 19 g/L (normal 40-55 g/L), elevated serum IgE of 2930 IU/ml (normal <100 IU/ml), decreased IgG at 3.61 g/L (normal 7.0-16.0 g/L), and decreased C3 at 0.75 g/L (normal 0.9-1.8 g/L). IgG4 was within normal range, anti-nuclear antibody and anti-neutrophil cellular antibody were normal, and hepatitis B surface antigen, hepatitis C virus, and HIV serology were all negative. Ultrasound examination revealed swelling lymph nodes over bilateral neck and supraclavicular areas, while renal ultrasound, chest X-ray, and electrocardiogram were normal.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/30912457/fig/1.jpg"], "caption": "(A) Renal specimen, PAS staining, 400× magnification. (B) Renal specimen, Masson staining, 400× magnification. (C) Renal specimen, PASM + Masson staining, 400× magnification. (D) Renal specimen, HE staining, 400× magnification. (E, F) Renal specimen, electron microscopy, 10000× magnification.", "detailed_caption": "Renal specimen showed membranoproliferative glomerulonephritis (A, B, C) along with eosinophils infiltration in the interstitium (D: arrow). Electron microscope showed electron dense deposit in endodermic (E: arrow) and subepithelial (F: arrow) region. (A: PAS × 400; B: Masson × 400; C: PASM + MASSON × 400; D: HE × 400; E&F: EM × 10000).", "modalities": ["pathology"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/30912457/fig/2.jpg"], "caption": "(A) Lymph node specimen, H&E staining, 4× magnification. (B) Lymph node specimen, H&E staining, 20× magnification. (C) Lymph node specimen, H&E staining, 40× magnification.", "detailed_caption": "Lymph node specimen showed eosinophilic lymphoid follicular granuloma with abundant eosinophil infiltration. Immunohistochemical staining showed positive S-100 and CD1a, but negative CD68, lysozyme, CD15, CD20, CD3, CD138, CD30, CD117, and EB virus-encoded small RNA.  (A: HE 4; B: HE 20; C: HE 40).", "modalities": ["pathology"]}], "diagnosis": "Kimura's disease with membranoproliferative glomerulonephritis", "standardized_diagnosis": [{"original_term": "Kimura's disease", "corrected_term": null, "code": "4B2Y", "title": "Kimura disease", "chapter": "Diseases of the immune system", "primary": true}, {"original_term": "Membranoproliferative glomerulonephritis", "corrected_term": null, "code": "MF8Y", "title": "membranoproliferative glomerulonephritis", "chapter": "Diseases of the genitourinary system", "primary": false}]}, "year": 2019, "classification": "Infectious and immunologic disorders"}
+{"pmid": "30766756", "patient_info": {"basic_info": "A 7-year-old girl with no past medical history presented with interm pain for approximately 1 month that was not relieved with anti-inflammatory treatment. A subsequent abdominal computed tomography (CT) scan at a local hospital showed peritoneal effusion and retroperitoneal lymphadenopathy. Her serum AFP level was elevated at 1,210 ng/mL (normal range: <25 ng/mL). Ultrasonography examination showed multiple enlarged abdominal and retroperitoneal hypoechoic lymph nodes. The bilateral ovaries and fallopian tubes as well as the uterus, cervix, and vagina were unremarkable. Upon surgical resection, the jejunal mass measured 4 cm in the largest dimension and involved the full thickness of the jejunum. The cut surface of the tumor was grey-white in color. Histologically, the tumor cells showed multiple patterns including microcystic, reticular, macrocystic, papillary, solid, and tubule-glandular structures. The tumor cells had large, irregular, pleomorphic nuclei with vesicular chromatin and variably prominent nucleoli, with moderate to abundant cytoplasm that was clear, mixed clear, or eosinophilic. Mitotic figures were abundant (highest, 18-20/10 high power fields). Pathologically, the lymph nodes showed reactive hyperplasia, including two ileocecal lymph nodes and one small mesenteric lymph node.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/30766756/fig/1.jpg"], "caption": "(A) CT plain scan of the lower right abdomen, jejunum region, CT value 40 HU, size 1.7 cm × 2.2 cm. (B) PET scan of the right lower abdomen, SUVmax=7.8. (C) PET/CT fusion image. (D) Whole body PET maximum intensity projection.", "detailed_caption": "18F-FDG PET/CT imagings of the patient. (A) CT plain scan shows the soft tissue shadow of jejunum in the lower right abdomen. The CT value is 40 Hu, the size is about 1.7 cm x 2.2 cm. (B) PET shows the abnormal concentration nodules of 18F-FDG uptake in the right lower abdominal. SUVmax is 7.8. (C) The PET/CT image is the fusion of CT (A) and PET (B), showing the lesions. (D) MIP of patient's whole body, showing abnormal accumulation of 18F-FDG uptake in the right lower abdomen (arrows).", "modalities": ["ct", "pet/spect/nuclear"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/30766756/fig/2.jpg"], "caption": "(A) SP staining, 200× magnification. (B) SP staining, 200× magnification, AFP positive. (C) SP staining, 200× magnification, glypican-3 positive. (D) SP staining, 200× magnification, SALL4 positive. (E) SP staining, 200× magnification, SATB2 positive (focal). (F) SP staining, 200× magnification, EMA negative.", "detailed_caption": " The YST of the patient does not involve the mucosa and shows solid and glandular pattern with myxoid stroma (A, SP staining, 200 ×). Immunohistochemically the tumor cells are diffusely positive for AFP (B, SP staining, 200 ×), glypican-3 (C, SP staining, 200 ×) and SALL4 (D, SP staining, 200 ×). The tumor cells are focally positive for SATB2 (E, SP staining, 200 ×) and negative for EMA (F, SP staining, 200 ×).", "modalities": ["pathology"]}, {"type": "tab", "id": 1, "subfig": null, "path": ["images/30766756/tab/3.jpg"], "caption": "Immunohistochemical analysis of the jejunum.", "detailed_caption": "Immunohistochemical profile shows Case 1 (Jejunum) positive for pan-CK, CK8/18, CDX-2 (partial), SATB2 (partial), AFP, GPC-3, and SALL4, while negative for CK7, CK20, EMA, and OCT4.", "modalities": ["pathology"]}], "diagnosis": "Primary yolk sac tumor of the intestine", "standardized_diagnosis": [{"original_term": "Primary yolk sac tumor of intestine", "corrected_term": null, "code": "2C73.Y&XH09W7", "title": "Yolk sac tumour, unspecified site, female", "chapter": "Neoplasms", "primary": true}]}, "year": 2018, "classification": "Neoplastic diseases"}
+{"pmid": "31638919", "patient_info": {"basic_info": "A previously healthy 58-year-old male presented with two weeks of lumbar pain and fever, accompanied by asthenia, anorexia, and recent weight loss of 3kg. He was a non-smoker with no drug abuse, recent travel, or animal contact history. On examination, he had a fever of 39.3°C with hemodynamic stability, bilateral painless swollen legs, and respiratory crackles on the right side. Laboratory tests showed hemoglobin 116 g/l, leukocyte count 33.3*109 cells/l, C-reactive protein 114.6mg/l, creatinine 56 μmol/l, elevated liver enzymes (AST 174 U/l, ALT 209 U/l, ALP 406 U/l, GGT 517 U/l), total bilirubin 76 μmol/l, conjugated bilirubin 66 μmol/l, and INR 1.38. Serology for hepatitis B, hepatitis C, and HIV were negative. Urinary sediment was unremarkable.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/31638919/fig/1.jpg"], "caption": "CT scan of the pelvis and lumbar spine.", "detailed_caption": "CT scan showed thromboses of both iliac veins, abscesses in the right iliac muscle (2.3 × 2.0 cm) and left psoas muscle (6.0 × 4.8 cm), right pleural effusion with pneumonia, and L4-L5 spondylodiscitis. The yellow arrow indicates L4-L5 spondylodiscitis, red arrow shows left iliac abscess, and blue arrow shows left iliac thrombosis.", "modalities": ["ct"]}], "diagnosis": "Atypical Lemierre's syndrome caused by Fusobacterium nucleatum, presenting with iliac vein thromboses, muscle abscesses, pneumonia with pleural effusion, and L4-L5 spondylodiscitis", "standardized_diagnosis": [{"original_term": "Atypical Lemierre's syndrome", "corrected_term": null, "code": "DA90.0", "title": "THE - [tricho-hepato-enteric] syndrome", "chapter": "Diseases of the digestive system", "primary": true}]}, "year": 2019, "classification": "Infectious and immunologic disorders"}
+{"pmid": "31057489", "patient_info": {"basic_info": "A 51-year-old woman was hospitalized for bilateral painful skin ulcers in the mammary region that had begun 6 months prior and rapidly developed from pustular lesions. The skin lesions were refractory to antiseptic and antibiotic therapies. During hospitalization, chest computerized tomography revealed a multinodular goiter. Neck ultrasound disclosed a 12.4 mm solid hypoechoic nodule in the upper pole of the left thyroid lobe and an 8.5 mm hypoechoic nodule in the lower pole of the same lobe. Fine-needle aspiration of the dominant nodule resulted in Tir4 category according to 2014 SIAPEC classification, equivalent to 'suspicious for thyroid carcinoma'. Fine-needle aspiration of the thyroid bed lesions revealed numerous neutrophils, together with scattered erythrocytes, lymphocytes, histiocytes, and few thyrocytes without cytological alterations.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/31057489/fig/1.jpg"], "caption": "(A,B) Clinical photographs of the right and left breast. (C) Skin biopsy, H&E staining, 100× magnification. (D,E) Clinical photographs after therapy. (F,G) Clinical photographs after complete healing.", "detailed_caption": "Dermatological and histopathological characteristics of pyoderma gangrenosum. (a,b) Ulcerative lesions showing necrotic base and erythematous-violaceous undermined borders on the right and left breast, respectively; (c) Skin histology revealing epidermal necrosis and a dermal-hypodermal inflammatory infiltrate mainly consisting of neutrophils (haematoxylin-eosin, original magnification ×100) (in the box, a magnified detail of the inflammatory infiltrate); (d,e) Partial healing after therapy with pulsed intravenous methylprednisolone, followed by the combination of prednisone and cyclosporine given orally; (f,g) Complete healing with hypertrophic aspects.", "modalities": ["clinical", "pathology"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/31057489/fig/2.jpg"], "caption": "(A) Neck ultrasonography, transversal scan, performed at 12-month follow-up after thyroidectomy. (B) Neck ultrasonography, longitudinal scan, performed at 12-month follow-up after thyroidectomy.", "detailed_caption": "Neck ultrasonography performed at 12-month follow-up visit after thyroidectomy. (a) Transversal scan shows two adjacent left paratracheal lesions (arrows). These marked hypoechoic areas have ill-defined margins but not microcalcifications; (b) Longitudinal scan depicts the elongated shape of the paratracheal lesion (lateral one) and its parallel orientation to the dermis without deformation of surrounding tissues, unlike true focal masses.", "modalities": ["ultrasound"]}, {"type": "tab", "id": 1, "subfig": null, "path": ["images/31057489/tab/3.jpg"], "caption": "Laboratory tests at 12 months after radioiodine ablation.", "detailed_caption": "Laboratory tests show that at 12 months after radioiodine ablation: TSH 0.89 mIU/L, undetectable Tg <0.04 ng/mL, anti-Tg antibodies <12 IU/mL, elevated ESR 60 mm (normal <20), elevated CRP 1.17 mg/dL (normal <0.5), and elevated absolute neutrophil count 3.22 × 10⁸/L", "modalities": ["lab"]}], "diagnosis": "Post-surgical thyroid bed pyoderma gangrenosum mimicking recurrent papillary thyroid carcinoma", "standardized_diagnosis": [{"original_term": "Pyoderma gangrenosum", "corrected_term": null, "code": "EB21", "title": "Pyoderma gangrenosum", "chapter": "Diseases of the skin", "primary": true}, {"original_term": "Papillary thyroid carcinoma", "corrected_term": null, "code": "2D10.1", "title": "Papillary carcinoma of thyroid gland", "chapter": "Neoplasms", "primary": false}]}, "year": 2019, "classification": "Dermatologic and mucosal diseases"}
+{"pmid": "30567601", "patient_info": {"basic_info": "A 38-year-old male patient was investigated for slowly progressive difficulty in walking and climbing stairs that began at age 35 years. No family history of neuromuscular disorders or consanguinity was reported. On neurological examination, scapular, anterior and posterior thigh muscle atrophy were observed. Muscle strength assessment using the MRC scale showed weakness of shoulder girdle muscles (with arm flexion and abduction possible against gravity until 90°) without scapular winging, inferior trapezius (2/5), arm extensors (2/5), elbow flexors (3/5), hip flexors (3/5), hip extensors (2/5), knee flexors and extensors (4/5), and dorsal foot extensors (4/5). No cranial nerve involvement was observed. Joint contractures and skeletal deformities were absent. The patient presented a waddling gait with increased lumbar lordosis and was unable to get up from the floor. Functional ability was 3 on the Brooke scale for upper limbs and 3 on the Vignos scale for lower limbs. CK was only slightly increased at 253 UI/l. EMG showed myopathic findings in all tested muscles with fibrillation potentials and positive sharp waves. Respiratory and cardiac functions were normal.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/30567601/fig/1.jpg"], "caption": "(A) T1-weighted muscle MRI of the leg. (B) T1-weighted muscle MRI of the thigh.", "detailed_caption": "T1-weighted muscle MRI at leg (a) and thigh (b) level. In the leg symmetrical fatty changes are more evident in medial and lateral gastrocnemius and, to a lesser degree, in tibialis anterior muscles (a). In the thigh a diffuse fatty substitution is present, with relative sparing of gracilis and rectus femoris muscles (b)", "modalities": ["mri"]}, {"type": "fig", "id": 2, "subfig": "A", "path": ["images/30567601/fig/2.jpg"], "caption": "Muscle biopsy from left quadriceps at age 38, H&E staining.", "detailed_caption": "H&E staining of muscle biopsy from left quadriceps taken at age 38 showed fiber size variability, a few central nuclei, scattered degenerative fibers.", "modalities": ["pathology"]}, {"type": "fig", "id": 2, "subfig": "B", "path": ["images/30567601/fig/3.jpg"], "caption": "Muscle biopsy, Gomori Trichrome staining.", "detailed_caption": "Gomori Trichrome staining showed few cytochrome oxidase-negative fibers and ragged red appearing fibers that were rare (about 1%) but above the expected number in a 38-year-old man.", "modalities": ["pathology"]}, {"type": "fig", "id": 2, "subfig": "D", "path": ["images/30567601/fig/4.jpg"], "caption": "Electron microscopy of first biopsy.", "detailed_caption": "Electron microscopy of first biopsy showed mitochondria of abnormally large size containing densely packed cristae.", "modalities": ["pathology"]}, {"type": "fig", "id": 2, "subfig": "H", "path": ["images/30567601/fig/5.jpg"], "caption": "Western blot analysis of transportin 3.", "detailed_caption": "Western blot analysis showed greatly reduced intensity of the transportin 3 band in the patient compared to control subject.", "modalities": ["lab"]}, {"type": "fig", "id": 2, "subfig": "I", "path": ["images/30567601/fig/6.jpg"], "caption": "(I) Bar graph of Real Time PCR results quantifying TNPO3 transcript levels in muscle biopsy samples.", "detailed_caption": "I: Figure 2 (I) presents a bar graph of Real Time PCR results quantifying TNPO3 transcript levels in muscle tissue, demonstrating a marked reduction of TNPO3 mRNA copy number in the patient (Pt) compared to control (Ctrl). This analysis was performed on muscle biopsy samples, and the finding indicates decreased TNPO3 transcript abundance in the patient.", "modalities": ["lab", "pathology"]}], "diagnosis": "LGMD1F (Limb Girdle Muscular Dystrophy 1F) with heterozygous G>A transition (c.G2453A) in exon 20 of the TNPO3 gene", "standardized_diagnosis": [{"original_term": "Limb girdle muscular dystrophy type 1F", "corrected_term": null, "code": "8C70.4Z", "title": "Limb-girdle muscular dystrophy", "chapter": "Diseases of the nervous system", "primary": true}]}, "year": 2018, "classification": "Neurological disorders"}
+{"pmid": "30213865", "patient_info": {"basic_info": "22-year-old athletic male presented with swelling and locking of the left knee. He had no recent trauma but had several football injuries as a child. Two years prior, he had experienced disabling knee pain.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/30213865/fig/1.jpg"], "caption": "Plain radiograph of the left knee, lateral view, at current presentation.", "detailed_caption": "Plain radiograph (lateral view of left knee) at current presentation shows a loose body at the medial aspect of the patellar pouch with anterior displacement of the patella, and a deformity in the articular surface of the posterior aspect of the lateral condyle", "modalities": ["x-ray"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/30213865/fig/2.jpg"], "caption": "Plain radiograph of the left knee, lateral view, performed two years prior.", "detailed_caption": "Plain radiograph (lateral view of left knee) from two years prior shows a large area of osteochondritis bordered by a crescent of radiolucency", "modalities": ["x-ray"]}], "diagnosis": "Displaced osteochondral body (a dislodged fragment of subchondral bone) resulting from osteochondritis dissecans (OCD)", "standardized_diagnosis": [{"original_term": "Osteochondral body", "corrected_term": null, "code": "FB82.1", "title": "osteochondral lesion", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": false}, {"original_term": "Osteochondritis dissecans", "corrected_term": null, "code": "FB82.1", "title": "Osteochondritis dissecans", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": true}]}, "year": 2018, "classification": "Orthopedic and connective tissue disorders"}
+{"pmid": "31519155", "patient_info": {"basic_info": "A 64-year-old immunocompetent woman presented with cerebral hemorrhage in the left temporal-parietal region. CT angiography detected an aneurysm in the distal segment of left middle cerebral artery. Immunohistochemistry showed the cells were positive for CD30 with partial expression of CD79α and CD20. The cells expressed LMP-1. Clonal immunoglobulin heavy chain (IGH) rearrangement was detected. Staging procedures including CT scan and bone marrow biopsy were negative.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/31519155/fig/1.jpg"], "caption": "(A) Artery histology, low power view. (Inset) Thrombus histology, high power view.", "detailed_caption": "Low power view of artery with interrupted wall containing thrombotic material; inset shows rare atypical lymphoid cells lying within the thrombus at high power view", "modalities": ["pathology"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/31519155/fig/2.jpg"], "caption": "High power microscopic view of lymphoid cells; left inset: PAX5 immunohistochemistry; right inset: MUM1 immunohistochemistry.", "detailed_caption": "High power detail of large lymphoid cells; inset left shows PAX5 positivity; inset right shows MUM1 expression", "modalities": ["pathology"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/31519155/fig/3.jpg"], "caption": "(A) Ki-67 immunostaining. (B) In situ hybridization for EBV-encoded RNA (EBER).", "detailed_caption": "Subfig A shows high proliferative index (Ki67); Subfig B shows Epstein-Barr virus positivity in large-sized cells by in situ hybridization for EBV-encoded RNA (EBER)", "modalities": ["pathology"]}], "diagnosis": "Fibrin-associated diffuse large B-cell lymphoma (FA-DLBCL) within a cerebral artery aneurysm", "standardized_diagnosis": [{"original_term": "Fibrin-associated diffuse large B-cell lymphoma", "corrected_term": null, "code": "2A81.Z", "title": "Diffuse large B-cell lymphomas", "chapter": "Neoplasms", "primary": true}, {"original_term": "Cerebral artery aneurysm", "corrected_term": null, "code": "8B22.5&XA13S2", "title": "Cerebral aneurysm NOS[Cerebral artery]", "chapter": "Diseases of the nervous system", "primary": false}]}, "year": 2019, "classification": "Neoplastic diseases"}
+{"pmid": "31970543", "patient_info": {"basic_info": "54-year-old woman without comorbidities presented to emergency department with 12-hour history of redness and painful swelling in left gluteal region. Denied trauma. At admission: afebrile (36.2°C), normal blood pressure (109/65 mmHg), heart rate 89 bpm, mild peripheral oxygen desaturation (92% on room air) without respiratory distress. Rest of physical exam normal.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/31970543/fig/1.jpg"], "caption": "(A) Clinical photograph of the left gluteus at admission. (B) Clinical photograph of the left gluteus 3 hours after admission.", "detailed_caption": "Shows macroscopic aspect of left gluteus with signs of cutaneous infection at admission and rapid progression of redness around central area of induration 3 hours after admission. (a) at admission. (b) 3 h after admission, ", "modalities": ["clinical"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/31970543/fig/2.jpg"], "caption": "(A) Point-of-care ultrasound of the left gluteal soft tissue, 15–6 MHz linear probe. (B) Point-of-care ultrasound of the contralateral gluteal soft tissue, 15–6 MHz linear probe.", "detailed_caption": "Point-of-care ultrasound scan of the affected left gluteal soft tissue (a) and normal soft tissue on the contralateral side (b) using a 15–6 MHz linear probe. In the affected tissue, there is loss of the normal subcutaneous architecture, diffuse increased echogenicity, hypoechoic regions that correspond to little fluid accumulations (arrow) and an hyperechoic focus with posterior dirty acoustic shadowing, corresponding to gas in the soft tissue (arrowhead)", "modalities": ["ultrasound"]}], "diagnosis": "Necrotizing soft tissue infection", "standardized_diagnosis": [{"original_term": "Necrotizing soft tissue infection", "corrected_term": null, "code": "1H0Z", "title": "infection NOS", "chapter": "Certain infectious or parasitic diseases", "primary": true}]}, "year": 2020, "classification": "Infectious and immunologic disorders"}
+{"pmid": "31112270", "patient_info": {"basic_info": "A 71-year-old woman presented with hematuria and underwent an abdominal CT scan. Her past medical history included nephrolithiasis at age 41, a long history of easy skin bruising that worsened at age 66, and osteoporosis with a T-score of -2.6 at the left femoral neck. Physical examination was notable only for bruising on her lower extremities. Serial testing at a tertiary center showed late-night serum cortisol of 70 ng/mL, and a Dex-CRH test with cortisol levels of 1.8 μg/dL at 0 minutes and 2 μg/dL at 15 minutes.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/31112270/fig/1.jpg"], "caption": "CT of the adrenal glands.", "detailed_caption": "CT images show an enlarged right adrenal gland and a 1.7-cm left adrenal nodule with nodular hyperplasia", "modalities": ["ct"]}, {"type": "tab", "id": 2, "subfig": null, "path": ["images/31112270/tab/2.jpg"], "caption": "Laboratory results.", "detailed_caption": "Laboratory findings show fasting plasma glucose of 253 mg/dL, HbA1c of 7.9%, blood pressure of 129/70 mm Hg, cortisol after 1-mg DST of 18 μg/dL, multiple LNSC values of 5.075 and 2.43 ng/mL (ULN <1.56 ng/mL), multiple UFC values ranging from 32-116 μg/d, ACTH levels ranging from undetectable to 14.6 pg/mL, and DHEA-S of 82 μg/dL", "modalities": ["lab"]}], "diagnosis": "Primary bilateral macronodular adrenal hyperplasia (BMAH) with hypercortisolism", "standardized_diagnosis": [{"original_term": "Primary bilateral macronodular adrenal hyperplasia", "corrected_term": null, "code": "5A70.Y", "title": "ACTH-independent macronodular adrenal hyperplasia", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": true}, {"original_term": "Hypercortisolism", "corrected_term": null, "code": "5A70.Z", "title": "Hypercortisolism", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": false}]}, "year": 2019, "classification": "Endocrine and metabolic disorders"}
+{"pmid": "31159867", "patient_info": {"basic_info": "Patient 1 is a 15-year-old Ukrainian male who was the only child of a healthy non-consanguineous family (family 1). His mother had a full-term first pregnancy without miscarriages or health concerns. At the time of examination, his weight was 45 kg (Z score -1.32, 9% centile). He suffers from headaches, urolithiasis, and pyelonephritis. Within 2 months, sarcoma-like ossification measuring 5×4 cm without clear contour developed, enlarging to 7×5 cm after 1.5 months with some thickening and clearer contour line. By 2017, extreme hyperplastic callus formation was present with lower limb inflammatory symptoms including redness, fever, and enlargement. He developed deformities of the spine and combined deformities of lower limbs, upper limbs, and chest. Due to severe callus formation in the hips, he was immobile and unable to sit. His bone mineral density Z-score was -5.9 for the spine and -3.6 for the lower arm.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "a", "path": ["images/31159867/fig/1.jpg"], "caption": "(A) Clinical photograph of the femur during the period of extreme hyperplastic callus formation.", "detailed_caption": "A: Figure 1 (a) on page 5 shows a clinical photograph depicting hyperplastic callus formation in the femur of Patient 1, a 15-year-old male with osteogenesis imperfecta type V, at a stage when the callus appeared markedly enlarged, with visible swelling and redness as described after inflammatory symptoms developed. This image documents the anatomical site as the femur and represents a gross clinical photograph rather than a radiological or histopathological modality; the timing corresponds to the period during which extreme hyperplastic callus was present and inflammatory signs were observed.", "modalities": ["clinical"]}, {"type": "fig", "id": 1, "subfig": "c", "path": ["images/31159867/fig/2.jpg"], "caption": "(C) Conventional X-rays performed in 2017, right humerus, both femurs, and right forearm.", "detailed_caption": "Figure 1 (c) displays radiographic images demonstrating the radiological features of Patient 1, a 15-year-old male with osteogenesis imperfecta type V, highlighting severe hyperplastic callus formation involving the right humerus and both femurs, congenital synostosis of the right forearm with calcification of the radioulnar interosseous membrane, and contracture with radial head dislocation of the right elbow; the images are conventional X-rays taken after symptoms became extreme in 2017, clearly visualizing cortical thickening and extensive ossifications in multiple long bones, and also showing postsurgical changes following osteosynthesis.", "modalities": ["x-ray"]}, {"type": "tab", "id": 1, "subfig": null, "path": ["images/31159867/tab/3.jpg"], "caption": "Table summarizing clinical, radiological, and genetic data for five patients with osteogenesis imperfecta type V with the IFITM5 c.-14C>T variant.", "detailed_caption": "Table 1, found on page 4 of the document, summarizes the phenotype characteristics of five patients with osteogenesis imperfecta type V confirmed to have the IFITM5 c.-14C>T pathogenic variant. The table presents individual data for each patient, including age, sex, country, phenotype severity, mimicked classic OI type, family history, presence of hyperplastic callus, interosseous membrane calcification, radial head dislocation, metaphyseal radiodense band, hearing loss, presence of dentinogenesis imperfecta or teeth brittleness, sclera hue, number and annual rate of fractures, timing and anatomical site of first fracture, most frequently fractured bone, presence of chest deformity and scoliosis, upper and lower limb long-bone deformities, mobility status, height Z-score, birthweight and length, and joint laxity. This table provides a comparative overview of clinical, radiological, and genetic features across the cohort, highlighting the phenotypic variability in OI type V.", "modalities": ["clinical", "genetic", "general imaging"]}], "diagnosis": "Osteogenesis imperfecta type V caused by c.-14C > T pathogenic variant in the IFITM5 gene", "standardized_diagnosis": [{"original_term": "Osteogenesis imperfecta type V", "corrected_term": null, "code": "LD24.K0", "title": "Osteogenesis imperfecta", "chapter": "Developmental anomalies", "primary": true}]}, "year": 2019, "classification": "Genetic and congenital disorders"}
+{"pmid": "31172726", "patient_info": {"basic_info": "A 28-year-old man presented with an 8-year history of recurrent urticaria, arthralgia, and fever induced by cold stimuli. His father had exhibited the same symptoms since childhood but died without knowing the source of these symptoms. The patient had been previously diagnosed with cold urticaria and received symptomatic treatment at other hospitals, but his arthralgia, fever, and familial history were not explained by this initial diagnosis. The urticaria developed repeatedly and worsened upon exposure to cold environments, typically appearing and worsening in winter, and sometimes appearing in summer upon exposure to air conditioning. Arthralgia particularly affected the knee joint and accompanied the presentation of urticaria. Symptomatic treatment including anti-inflammatory agents had minimal effect on his symptoms. Laboratory findings showed elevated C-reactive protein (5.2 mg/dL) and erythrocyte sedimentation rate (62 mm/h), while other lab tests were within normal ranges. Antinuclear antibodies were positive with a titer of 1:80 and a cytoplastic pattern.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/31172726/fig/1.jpg"], "caption": "(A) Clinical photograph of the trunk. (B) Clinical photograph of the hand. (C) Clinical photograph of the leg.", "detailed_caption": "Shows urticaria on the trunk (A), hand (B) and leg with joint swelling (C)", "modalities": ["clinical"]}, {"type": "fig", "id": 2, "subfig": "A", "path": ["images/31172726/fig/2.jpg"], "caption": "Genetic analysis chromatogram of the NLPR3 gene.", "detailed_caption": "Chromatogram showing p.Gly303Asp variant of the NLPR3 gene", "modalities": ["genetic"]}], "diagnosis": "Cryopyrin-associated periodic syndrome (CAPS), specifically familial cold autoinflammatory syndrome (FCAS)", "standardized_diagnosis": [{"original_term": "Cryopyrin-associated periodic syndrome", "corrected_term": null, "code": "4A60.1", "title": "Cryopyrin-associated periodic syndromes", "chapter": "Diseases of the skin", "primary": false}, {"original_term": "Familial cold autoinflammatory syndrome", "corrected_term": null, "code": "4A60.1", "title": "Familial cold autoinflammatory syndrome", "chapter": "Diseases of the skin", "primary": true}]}, "year": 2019, "classification": "Infectious and immunologic disorders"}
+{"pmid": "32340587", "patient_info": {"basic_info": "54-year-old female with hypertension and hyperlipidemia presented to cardiology clinic for follow-up 20 months since her most recent office visit. She was being evaluated for follow-up of cardiac risk factors and medication management. The patient was in her usual state of health and asymptomatic without changes in her exercise tolerance, weight, or energy levels. She did not have any gross hematuria or flank pain.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/32340587/fig/1.jpg"], "caption": "(A) Point-of-care ultrasound of the right kidney. (B) Renal ultrasonography of the right kidney, largest mass measuring 4.6 cm in the inferior pole. (C) Contrast-enhanced CT of the abdomen and pelvis, coronal view, right kidney.", "detailed_caption": "(a) Point-of-care ultrasound image of the right kidney in an asymptomatic 54-year-old woman shows a peripherally located isoechoic solid mass (arrow) causing distortion of the renal border. (b) Formal renal ultrasonography image of 1 (arrow) of 2 solid masses found in the inferior pole of the right kidney, the largest measuring 4.6 cm in its biggest dimension. (c) Contrast-enhanced computed tomography imaging of the abdomen and pelvis, coronal view shows a peripheral, likely multifocal renal cell carcinoma (arrow) in the inferior pole of the right kidney.", "modalities": ["ultrasound", "ct"]}], "diagnosis": "Clear cell renal cell carcinoma, stage pT2a", "standardized_diagnosis": [{"original_term": "Clear cell renal cell carcinoma", "corrected_term": null, "code": "2C90.0", "title": "renal cell carcinoma NOS", "chapter": "Neoplasms", "primary": true}]}, "year": 2020, "classification": "Neoplastic diseases"}
+{"pmid": "31906980", "patient_info": {"basic_info": "A 60-year-old female patient initially presented with atrial premature beats and paroxysmal atrial fibrillation. An initial transesophageal echocardiogram (TEE) showed a small, localized thickening of the interatrial septum that was considered as a structural variant. Three months after radiofrequency catheter ablation (RFCA), she was readmitted with sudden onset of chest tightness, dyspnea, transient palpitation, and recurrent pericardial effusion. Chest x-ray examination revealed moderate cardiomegaly and T-wave abnormalities in precordial leads were found in electrocardiogram. The mass did not extend into the superior vena cava and did not cause stenosis of the tricuspid valve annulus. The mass exhibited central cavitation suggesting poor blood flow in this region. No malignant or atypical cells were found in the bloody pericardial effusion.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/31906980/fig/1.jpg"], "caption": "(A) Transesophageal echocardiography (TEE) of the interatrial septum, performed before RFCA. (B) Transthoracic echocardiography (TTE) of the interatrial septum, performed 3 months after RFCA. (C) Transesophageal echocardiography (TEE) of the right atrial walls, performed 3 months after RFCA.", "detailed_caption": "Echocardiography revealed the changes of the mass before and after RFCA. a Before RFCA, transesophageal echocardiography (TEE) revealed a local thickening of the interatrial septum (*) near the root of aorta. b Transthoracic echocardiography (TTE) detected a large immobile, non-pedunculated mass (*) involving the interatrial septum 3 months after RFCA. c TEE revealed a large polymorphic tumor (*) infiltrating the right atrial walls with hypoechoic area (arrow) 3 months after RFCA", "modalities": ["ultrasound"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/31906980/fig/2.jpg"], "caption": "(A) Positron emission tomography scan of the heart, SUVmax=21.2. (B) 18F-FDG PET-CT fusion image of the heart.", "detailed_caption": "PET-CT assessed the metabolic activity of the cardiac mass. a Positron emission tomography scan showed hypermetabolic activity (*) in the RA with a standard uptake value SUVmax of 21.2. b 18F-FDG PET-CT fusion image illustrates high FDG uptake of the cardiac mass (*). 18F-FDG PET-CT: F18-fluorodeoxy glucose-positron emission tomography", "modalities": ["pet/spect/nuclear", "ct"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/31906980/fig/3.jpg"], "caption": "(A) Heart tumor, H&E staining. (B) Immunohistochemical staining for CD31, heart tumor, 200× magnification.", "detailed_caption": "Pathological analysis identified the tumor as a primary cardiac angiosarcoma. a Malignant cells are frankly atypical with hyperchromatic nuclei (arrow). They line poorly formed immature vessels containing red blood cells (H&E stain). b Immunohistochemical stain for CD31 (blue) revealed the endothelial nature of the tumor cells (original magnification × 200)", "modalities": ["pathology"]}], "diagnosis": "Primary cardiac angiosarcoma of the right atrium", "standardized_diagnosis": [{"original_term": "Primary cardiac angiosarcoma", "corrected_term": null, "code": "2B56.0", "title": "Angiosarcoma of heart", "chapter": "Neoplasms", "primary": true}]}, "year": 2020, "classification": "Neoplastic diseases"}
+{"pmid": "32117230", "patient_info": {"basic_info": "8-month-old male from non-consanguineous family with no relevant prior family history. Born at term. Previously admitted twice for bronchitis at 3 and 6 months of age, with severe neutropenia during one episode that resolved without treatment. Presented with respiratory distress, fever, and fatigue. Physical examination revealed no palpable lymph nodes or tonsillar tissue, bilateral lung crackles and diminished breath sounds. Chest X-ray showed bilateral infiltrates with no pleural effusion, establishing diagnosis of acute bilateral pneumonia.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/32117230/tab/1.jpg"], "caption": "Laboratory results: complete blood count, lymphocyte subset analysis, immunoglobulin levels.", "detailed_caption": "Complete blood count showed normal leukocytes (10.79 × 10⁹/L), decreased neutrophils (19.6%), increased lymphocytes (55.1%). T cells CD3+ were elevated (89.97%). CD19+ B cells were profoundly decreased (1%, 0.05 × 10⁹/L). Immunoglobulin levels were very low: IgA <10 mg/dl, IgM 12 mg/dl, IgG 135 mg/dl. CD56+CD16+ NK cells were normal (5.78%).", "modalities": ["lab"]}, {"type": "fig", "id": 1, "subfig": null, "path": ["images/32117230/fig/2.jpg"], "caption": "(A) Sanger sequencing of BTK gene, exon 6. (B) Massive parallel sequencing of BTK gene, variant p.C165Y, blood (5.4%), urine (4.6%), buccal swab (2.3%), vaginal swab (4.7%), coverage 2,454× to 107,374×.", "detailed_caption": "Sanger sequencing identified hemizygous missense mutation c.494G>A/p.C165Y in exon 6 of BTK gene in the patient. Mother's Sanger sequencing showed very small adenine peaks at c.494 position in both sense and antisense strands with two different primer pairs. Massive parallel sequencing detected the BTK p.C165Y mutation in mother's samples at low frequencies: blood (5.4%), urine (4.6%), buccal swab (2.3%), and vaginal swab (4.7%) with high coverage ranging from 2,454× to 107,374×.", "modalities": ["genetic"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/32117230/fig/3.jpg"], "caption": "Flow cytometry of monocytes and B cells.", "detailed_caption": "Flow cytometry showed complete absence of BTK protein expression in patient's monocytes, confirming BTK deficiency. Mother's BTK expression was within normal range in both monocytes and B cells, indicating low-level mosaicism did not significantly impact protein expression and could not be reliably detected by flow cytometry.", "modalities": ["lab"]}], "diagnosis": "X-linked agammaglobulinemia (XLA) caused by BTK gene mutation c.494G>A/p.C165Y", "standardized_diagnosis": [{"original_term": "X-linked agammaglobulinemia", "corrected_term": null, "code": "4A01.00", "title": "X-linked agammaglobulinaemia", "chapter": "Diseases of the immune system", "primary": true}]}, "year": 2020, "classification": "Infectious and immunologic disorders"}
+{"pmid": "31191551", "patient_info": {"basic_info": "33-year-old female developed disseminated vesicular rash (40-50 non-synchronously evolving lesions) on trunk and extremities 2 weeks after receiving post-partum varicella vaccine. History of splenomegaly since age 5 (considered sequela of infectious mononucleosis). History of recurrent mild upper respiratory infections. No history of specific health complaints, hospitalizations, infectious complications, or lymphoadenopathy. Physical exam showed splenomegaly. Laboratory findings revealed selective IgA deficiency and CD4 lymphopenia (111-118 cells/μL). Flow cytometry showed CD4 lymphopenia (189 cells/μL), normal CD8 T cells (383 cells/μL), increased double negative T cells (4.3%, 33 cells/μL), high cycling CD4 T-cells and DNT (Ki67 12% and 42% respectively), increased PD-1 expression in CD4 T-cells (42%). Total IgG elevated (1,716 mg/dL), normal IgM (54 mg/dL), undetectable IgA.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/31191551/fig/1.jpg"], "caption": "(1) CT scan, coronal section, spleen. (2) CT scan, 3D reconstruction, spleen, splenic volume=1,034 mL. (3) CT scan, axial section, paraaortic and mesenteric lymph nodes.", "detailed_caption": "CT scan showed splenomegaly and paraortic/mesenteric lymphadenopathy. (1) Coronal section: Splenomegaly. (2) Splenic volume estimation by 3D reconstruction: 1,034 milliliter (mL) (normal 200 ± 50 mL). (3) Axial section: Paraortic and mesenteric lymphadenopathy.", "modalities": ["ct"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/31191551/fig/2.jpg"], "caption": "(1) Bone marrow biopsy, H&E staining, 200× magnification. (2) Bone marrow biopsy, CD3 immunohistochemistry staining. (3) Bone marrow biopsy, CD8 immunohistochemistry staining.", "detailed_caption": "Bone marrow biopsy showed scattered lymphocytic aggregates with prevalence of CD8+ cells. (1) Lymphocytic aggregate in hematoxylin and eosin staining at 200x magnification. (2) CD3 Immunohistochemistry (IHC) staining. (3) CD8 IHC staining. ", "modalities": ["pathology"]}, {"type": "fig", "id": 1, "subfig": "C,D", "path": ["images/31191551/fig/3.jpg"], "caption": "(C) Diagram of the FAS gene showing intron/exon structure and protein domains. (D) Ex vivo flow cytometric assay evaluating FAS-induced apoptosis in terminal effector memory cells (CD45RA−CCR7−CD27−) and TCRαβ+ double-negative T cells (CD4−CD8−), presenting average fold increase ± SEM of Annexin-V expression from 4 experiments with the index patient and 8 healthy controls using different concentrations of anti-FAS crosslinking antibody.", "detailed_caption": "(C) Diagram of the FAS gene identifying intron/exon structure and protein domains. Mutations are indicated at their approximate location and identified by symbols corresponding to mutation type. The new mutation identified in the index patient indicated by the red arrow. Figure adapted by Hsu et al. (3). (D) FAS-induced apoptosis was evaluated in terminal effector memory cells (TEM) and TCRαβ+ DN T cells of index patient and healthy subjects using an ex vivo flow cytometric assay based on FAS crosslinking. (1) Average fold increase ± standard error of mean (SEM) of Annexin-V expression in TEM (CD45RA−CCR7−CD27−) from 4 independent experiments with index patient (red) and 8 different healthy controls (blue) with different concentrations of anti-FAS crosslinking antibody. (2) Average fold increase ± SEM of Annexin-V expression in DNT cells (TCRαβ+CD4−CD8−) from 4 independent experiments with index patient (green) and 8 different healthy controls (purple) with different concentrations of anti-FAS crosslinking antibody.", "modalities": ["lab", "genetic"]}], "diagnosis": "Autoimmune lymphoproliferative syndrome (ALPS-FAS) with paradoxical CD4 lymphopenia, caused by a novel germline missense mutation in FAS death-domain", "standardized_diagnosis": [{"original_term": "Autoimmune lymphoproliferative syndrome", "corrected_term": null, "code": "4A01.22", "title": "Autoimmune lymphoproliferative syndrome", "chapter": "Diseases of the immune system", "primary": true}, {"original_term": "CD4 lymphopenia", "corrected_term": null, "code": "4B0Z", "title": "Lymphopenia", "chapter": "Diseases of the immune system", "primary": false}]}, "year": 2019, "classification": "Infectious and immunologic disorders"}
+{"pmid": "30409207", "patient_info": {"basic_info": "This case involves a 26-year-old man with consanguineous parents (cousins) who presented with weight loss, fever, hepatosplenomegaly, and coughing. His medical history includes lymphadenopathy in the neck at age 8 for which he received anti-tuberculosis treatment, and a diagnosis of pulmonary sarcoidosis at age 12 with subsequent corticosteroid treatment for an extended period. On examination upon admission, the patient was pale with low-grade pyrexia (37.5°C), normal cardiovascular examination, and cervical lymphadenopathy. He had crackles on the left side of his chest. Laboratory investigations revealed normal full blood counts, negative liver function tests, and negative autoimmune and virology screens. Moxifloxacin treatment for 2 weeks prior to admission failed to alleviate his symptoms of cough, hypoxia, night sweats, and fevers up to 40°C.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/30409207/fig/1.jpg"], "caption": "(A) Chest CT, lung window, at the level of the pulmonary artery. (B) Chest CT, lung window, at the level of the heart.", "detailed_caption": "1 Lung imaging. a. There is extensive consolidation in the right lung (red arrow). Scattered patches of consolidation in the left lung are also seen (green arrow). Chest CT scans show the lung window at the level of the pulmonary artery (b) and heart (c). Note extensive consolidation in the right upper lobe (red arrow b). There are also smaller patches of consolidation in the right lower and middle lobes and in the left lung (green arrows b and c)", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/30409207/fig/2.jpg"], "caption": "Flow cytometry analysis of peripheral blood neutrophils, DHR oxidation assay, with and without PMA stimulation (DHR 375 ng/ml, PMA 100 ng/ml), mean fluorescence intensity measured.", "detailed_caption": "Figure 2 presents a flow cytometry analysis of dihydrorhodamine-123 (DHR) oxidation to assess reactive oxygen species (ROS) production by peripheral blood neutrophils, comparing the patient sample to healthy controls; cells were incubated with DHR (375 ng/ml), with and without phorbol 12-myristate 13-acetate (PMA) stimulation (100 ng/ml), and mean fluorescence intensity was measured, showing that the patient’s neutrophils produced low, subnormal levels of ROS after PMA stimulation, in contrast to the robust response seen in normal controls.", "modalities": ["lab"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/30409207/fig/3.jpg"], "caption": "(A) Fungal culture of lung specimen obtained by bronchoscopy incubated for 7 days on Sabouraud dextrose agar at 30 °C. (B) Fungal culture after 12 days on potato dextrose agar and lactophenol cotton blue (LPCB) mounting slide. (C) Microscopy of septate and hyaline hyphae with biseriate phialides.", "detailed_caption": "Microbiological culture of lung fungal species obtained by bronchoscopy. a 7-day-old culture on sabouraud dextrose agar at 30 °C shows light yellow to brownish colonies. b Fungal growth after 12 days sterile culture on potato dextrose agar (PDA) plates for sporulation and identification, and LPCB mounting slide showing details of hyphae and the accessory conidia. c Septate and hyaline hyphae with biseriate phialides extending from the upper portion of the vesicle and covering 2/3 of the plate", "modalities": ["pathology"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/30409207/fig/4.jpg"], "caption": "(A) Partial gene sequence analysis of the putative invertase gene from Aspergillus terreus isolated from the patient. (B) Partial gene sequence analysis of the putative invertase gene from standard Aspergillus terreus.", "detailed_caption": "a Partial sequence of the putative invertase gene from Aspergillus terreus isolated from the patient. This is compared to the sequence of the‘standard’ A. terreus sp. (b)", "modalities": ["genetic"]}], "diagnosis": "Adult autosomal recessive chronic granulomatous disease with pulmonary Aspergillus terreus infection", "standardized_diagnosis": [{"original_term": "Adult autosomal recessive chronic granulomatous disease", "corrected_term": null, "code": "4A00.0Y", "title": "Chronic granulomatous disease", "chapter": "Diseases of the immune system", "primary": true}, {"original_term": "Pulmonary Aspergillus infection", "corrected_term": null, "code": "1F20.Z", "title": "aspergillus infection", "chapter": "Certain infectious or parasitic diseases", "primary": false}]}, "year": 2018, "classification": "Infectious and immunologic disorders"}
+{"pmid": "32007091", "patient_info": {"basic_info": "Patient 1: 3.5-year-old male from unrelated Polish parents. Born at 39 weeks gestation with birth weight 3700g (50th-75th centile), length 57cm (97th centile), head circumference 36cm (75th-97th centile), thorax circumference 33cm (25-50th centile), Apgar score 9 at 1 min. Family history unremarkable. Proteinuria, hematuria and glycosuria noted in early neonatal period. UTI at 12 months. At 3 years developed bronchopneumonia with elevated creatinine. Laboratory investigations showed constant proteinuria, glycosuria, hematuria, eGFR (Schwartz) 30.56 ml/min/1.73 m2, elevated serum creatinine, uric acid, urea, total cholesterol, and triglyceride; normal CBC, blood glucose, albumin, thyroid and liver function tests. Renal ultrasound showed increased cortex echogenicity and decreased corticomedullary differentiation. Normal male karyotype (46,XY).", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/32007091/fig/1.jpg"], "caption": "(A) Clinical photographs of the face at age 3 years 7 months. (B) Clinical photograph, facial lateral view, at age 3 years 7 months. (C) Clinical photograph of the chest at age 3 years 7 months. (D) Clinical photograph of the feet at age 3 years 7 months. (E) Clinical photographs of the face at age 9 years 3 months. (F) Clinical photograph, facial lateral view, at age 9 years 3 months. (G) Clinical photograph, whole body, at age 9 years 3 months. (H) Clinical photograph of the right hand at age 9 years 3 months.", "detailed_caption": "Dysmorphic features and changing phenotype of patient 1 at the age of 3 y 7 m (a-d) and 9 y 3 m (e-h) respectively. (a, e) Characteristic facial features. Facial features are dolichocephaly, high prominent forehead, thin sparse hair, full cheeks, strabismus, broad prominent nasal bridge, flat philtrum columns, narrow mucus upper lip, everted lower lip, open mouth, low-set prominent ears, microretrognathia. (b, f) A facial lateral view showing low set ears and sparse hair. (c) Narrow chest, pectus excavatum. (d) Brachydactyly and overlap of toes. (g) Whole body image showing proximal limb shortening, a short broad neck, a narrow thorax and obesity. (h) Brachydactyly of the right hand", "modalities": ["clinical"]}, {"type": "tab", "id": 1, "subfig": null, "path": ["images/32007091/tab/2.jpg"], "caption": "Table 1: Clinical and genetic data of two male patients with cranioectodermal dysplasia, including examination age, DNA and protein variants in IFT140, and assessment of craniofacial, skeletal, ectodermal, renal, neurodevelopmental, and additional traits.", "detailed_caption": "Table 1, found on page 4 of the document, presents detailed clinical features of two male patients with cranioectodermal dysplasia (CED) carrying compound heterozygous variants in IFT140. The table systematically compares the presence or absence of specific clinical characteristics, including dysmorphic craniofacial and skeletal features, ectodermal anomalies, renal involvement, and neurodevelopmental findings. It includes genetic details (DNA and protein changes), age at examination, sex, and assessment of traits such as dolichocephaly, craniosynostosis, frontal bossing, full cheeks, nasal bridge width, philtrum morphology, lip configuration, ear position, chest and rib shape, limb and digit shortening, nail/hair/teeth characteristics, abdominal protrusion, renal failure, nephritis, ophthalmological problems, respiratory infections, intelligence, and motor development for each patient.", "modalities": ["clinical", "genetic"]}], "diagnosis": "Sensenbrenner syndrome (Cranioectodermal dysplasia) with compound heterozygous IFT140 variants", "standardized_diagnosis": [{"original_term": "Sensenbrenner syndrome", "corrected_term": null, "code": "LD27.0Y", "title": "Sensenbrenner syndrome", "chapter": "Developmental anomalies", "primary": true}, {"original_term": "Cranioectodermal dysplasia", "corrected_term": null, "code": "LD27.0Y", "title": "Cranioectodermal dysplasia", "chapter": "Developmental anomalies", "primary": false}]}, "year": 2020, "classification": "Genetic and congenital disorders"}
+{"pmid": "32046748", "patient_info": {"basic_info": "A 31-year-old Caucasian man with multiple sclerosis who had received 24 natalizumab infusions and was switched to fingolimod due to persistent high anti-JCPyV antibody index (3.61). After 40 days of fingolimod treatment, he developed seizures and visual field defects. Neurological examination revealed lateral nystagmus to the left, homonymous hemianopia, distal tremor and spasm of the upper limbs. He presented with leukopenia (0.83 × 10^9/L) at hospital admission.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/32046748/tab/1.jpg"], "caption": "Laboratory results of cerebrospinal fluid.", "detailed_caption": "CSF composition showed glucose: 54 mg/dl, proteins: 569 mg/L, cell count: 5 cells/μl, CD4/CD8 ratio: 0.45, CSF JCPyV-DNA: 1.62 × 10^6 IU/mL, NCCR organization: A-B*-C-E-F", "modalities": ["lab"]}, {"type": "fig", "id": 1, "subfig": null, "path": ["images/32046748/fig/2.jpg"], "caption": "(A) Brain MRI, T2-weighted and FLAIR sequences, frontal, occipital, and parietal lobes of the right hemisphere and frontoparietal lobes of the left hemisphere. (B) Brain MRI, T1-weighted sequence, contrast enhancement. (C) JCPyV NCCR analysis, block organization A-B*-C-E-F, deletion of nucleotides 117–180 (D-block), T to G transversion at position 37 (B-block Spi-B binding site). (D) JCPyV VP1 coding region analysis, wild type organization.", "detailed_caption": "Brain MRI showed multiple hyperintense areas in T2-weighted and Fluid Attenuated Inversion Recovery (FLAIR) sequences in the frontal, occipital and parietal lobes of the right hemisphere, with analogous smaller areas in the frontoparietal lobes of the left hemisphere. Brain lesions showed poor contrast enhancement in T1-weighted sequences. JCPyV NCCR analysis showed block organization A-B*-C-E-F with deletion of nucleotides from 117 to 180 corresponding to D-block, and a T to G nucleotide transversion in position 37 corresponding to the Spi-B binding site in B-block. VP1 coding region showed wild type organization without mutations.", "modalities": ["mri", "genetic"]}], "diagnosis": "Progressive multifocal leukoencephalopathy (PML) confirmed by clinical presentation, MRI imaging and JCPyV-DNA detection in CSF", "standardized_diagnosis": [{"original_term": "Progressive multifocal leukoencephalopathy", "corrected_term": null, "code": "8A45.02", "title": "Progressive multifocal leukoencephalopathy", "chapter": "Diseases of the nervous system", "primary": true}]}, "year": 2020, "classification": "Neurological disorders"}
+{"pmid": "32354001", "patient_info": {"basic_info": "21-year-old woman presented with one day history of fixed grey-dark spots in the vision field of both eyes, with most spots in her left eye. She described the scotomas as 'tear drop' shaped and could draw them precisely on an Amsler chart. This episode was preceded by a single day of flu-like illness with elevated temperature (39°C). Medical history notable for varicella-zoster infection in infancy. Had stopped contraceptives for the previous three months. Denied other pathologies, trauma, or travel history. Medication history notable solely for paracetamol. Best-corrected visual acuity was 20/20 in both eyes. Color vision was normal. Slit lamp examination showed no abnormality.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/32354001/fig/1.jpg"], "caption": "(A) Infrared imaging and optical coherence tomography (OCT) of the left eye at presentation. (B) Infrared imaging and OCT of the left eye one week later. (C) OCT of the left eye 40 days later. (D) OCT of the left eye one year later. (E) Infrared imaging and OCT of the left eye 30 months later.", "detailed_caption": "Optical coherence tomography (OCT) and infrared (IR) images of left eye. (A) At presentation IR shows hyporeflective parafoveal lesion. Corresponding OCT shows a hyperreflective band of outer plexiform layer (OPL) and outer nuclear layer (ONL), and alteration of inner segment/outer segment (IS/OS) and retinal pigment epithelium (RPE). (B) Imaging one week later. (C) 40 days later, the OCT features started to normalize. (D) One year later, the OCT shows a smaller band in the OPL. (E) 30 months later, the lesion on the IR image is reduced and there are hyperreflective spots in the OPL and hyporeflective band of the ellipsoid zone.", "modalities": ["ophthalmic imaging"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/32354001/fig/2.jpg"], "caption": "(A) Infrared imaging and OCT of the right eye at presentation. (B) Infrared imaging and OCT of the right eye one week later. (C) Infrared imaging and OCT of the right eye 40 days later. (D) OCT of the right eye one year later. (E) Infrared imaging and OCT of the right eye 30 months later.", "detailed_caption": "OCT and infrared images (IR) of right eye. (A) At presentation IR shows two hyporeflective parafoveal lesions. Corresponding OCT shows two hyperreflective band of outer plexiform layer (OPL) and outer nuclear layer (ONL), and alteration of inner segment/outer segment (IS/OS) and retinal pigment epithelium RPE in the region of the bigger lesion in IR (nasally). (B) Image one week later. (C) 40 days month later, the OCT features started to normalize. (D) One year later the OCT shows a smaller band in the OPL corresponding to the smaller lesion in IR (infero-temporally). (E) 30 months later the lesions on the IR image are strongly reduced and there are rare hyperreflective spots in the OPL and hyporeflective band of the ellipsoid zone.", "modalities": ["ophthalmic imaging"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/32354001/fig/3.jpg"], "caption": "(A) Visual field examination of the right eye at presentation. (B) Visual field examination of the left eye at presentation.", "detailed_caption": "Visual field at presentation showed paracentral scotomas in both eyes (OS > OD) in the central region, corresponding to the rounded lesions noted in fundus and SLO images. Bilateral paracentral decrease in retinal sensitivity was also seen. right eye (A), left eye (B)", "modalities": ["ophthalmic imaging"]}], "diagnosis": "Bilateral Acute Macular Neuroretinopathy", "standardized_diagnosis": [{"original_term": "Bilateral acute macular neuroretinopathy", "corrected_term": null, "code": "9B65.0", "title": "Acute macular neuroretinopathy", "chapter": "Diseases of the visual system", "primary": true}]}, "year": 2020, "classification": "Neurological disorders"}
+{"pmid": "31936233", "patient_info": {"basic_info": "54-year-old woman presented with a rapidly enlarging left neck mass that had developed over the past four months, causing milintentional weight loss. She had a remote 20+ year smoking history but denied any family history of head and neck malignancies. Physical examination revealed an eight-centimeter nodal conglomerate in the left supraclavicular area and diffusely enlarged thyroid gland with a roughly 5 cm right thyroid mass. Previous fine needle aspiration (FNA) of the neck mass at an outside facility demonstrated rare degenerated atypical cells suspicious for malignancy. Repeat FNA cytology of the supraclavicular mass revealed a poorly differentiated carcinoma.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/31936233/fig/1.jpg"], "caption": "(A) Neck CT, cross section. (B) Neck CT, coronal section. (C) Chest CT angiogram, axial section. (D) Chest CT angiogram, coronal section.", "detailed_caption": "Computed tomography (CT) scan of the neck showed a large mass located at level 4 with central cystic necrosis (cross section and coronal section). CT angiogram of the chest showed metastatic lung lesions and tracheal deviation secondary to mass effect. (A): cross section and (B): coronal section. Axial section (C) and coronal section (D)", "modalities": ["ct", "angiography"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/31936233/fig/2.jpg"], "caption": "Histological sections of the left thyroid lobe(A–F)  H&E staining. (G) TTF-1 staining. (H) PAX-8 staining.", "detailed_caption": "Histological sections showed a dense, monotonous mass of cells with abundant amphophilic cytoplasm and open nuclei containing coarse chromatin and prominent perinuclear hof. A large fraction of cells were binucleated with features consistent with mature plasma cells. The lesion was positive for cytokeratin AE1/AE3, TTF-1, and PAX-8 with a markedly increased Ki-67 proliferative index at over 50%. Stains for Calcitonin, p63, SOX10, CD3, CD20, CD45, CD79a, CD138, and MUM-1 were negative. Areas of papillary thyroid carcinoma were present in both specimens. The supraclavicular lymph node showed metastatic papillary thyroid carcinoma with solid, undifferentiated components. A,B,C,D,E,F: H&E. G: TTF-1. H: PAX-8", "modalities": ["pathology"]}], "diagnosis": "Anaplastic thyroid carcinoma with a plasmacytic morphology arising from papillary thyroid carcinoma, with BRAF (V600E) mutation", "standardized_diagnosis": [{"original_term": "Anaplastic thyroid carcinoma", "corrected_term": null, "code": "2D10.3", "title": "anaplastic carcinoma of thyroid gland", "chapter": "Neoplasms", "primary": true}, {"original_term": "Papillary thyroid carcinoma", "corrected_term": null, "code": "2D10.1", "title": "Papillary carcinoma of thyroid gland", "chapter": "Neoplasms", "primary": false}]}, "year": 2020, "classification": "Neoplastic diseases"}
+{"pmid": "30757928", "patient_info": {"basic_info": "A 58-year-old man presented with a 3-month history of abdominal pain, diarrhea, and weight loss. He also experienced urinary symptoms including frequency, urgency, and dysuria. Initial colonoscopy revealed prominent congestion and edema, loss of vascular pattern, and multiple moth-eaten ulcers with purulent exudates involving the entire colon. A repeat colonoscopy showed scattered irregular ulcers with with granular background mucosa and 'fuzzy' vasculature. The ileum appeared normal.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/30757928/fig/1.jpg"], "caption": "(A) Colonoscopy of the descending colon. (B) Colonoscopy of the sigmoid colon. (C) Colonoscopy of the rectum. (D) Rectal biopsy, histological examination. (E) Rectal biopsy, low power view. (F) Rectal biopsy, higher magnification of (E). (G) Rectal biopsy, immunohistochemistry for CD8. (H) Rectal biopsy, immunohistochemistry for CD56. (I) Rectal biopsy, immunohistochemistry, Ki-67 (high index).", "detailed_caption": "Colonoscopy with biopsies for case 1. (a) Ulcers in the descending colon. (b) Ulcers in the sigmoid. (c) Mild congestion and edema in the rectum. (d) In contrast to the relatively mild endoscopic findings of the rectum, histologically the infiltration is marked by dense atypical lymphoid cells with loss of crypts. (e) Low power view of the rectal lymphomatous infiltrate. (f) Higher power view of (e). Immunohistochemically the tumor cells are positive for (g) CD8, (h) CD56, (i) with high Ki-67 index.", "modalities": ["endoscopy", "pathology"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/30757928/fig/2.jpg"], "caption": "(A) Esophagogastroduodenoscopy of the gastric body. (B) Narrow band imaging of the gastric body. (C) Biopsy of the gastric body mucosa. (D) Biopsy of the gastric body mucosa, high-power view.", "detailed_caption": "Esophagogastroduodenoscopy and biopsies of case 1. (a) Erosions in the gastric body. (b) Narrow band image of the gastric body. (c) Biopsy of the body mucosa showing marked atrophy. (d) High power view showing intraepithelial infiltrate by lymphomatous cells.", "modalities": ["endoscopy", "pathology"]}], "diagnosis": "Monomorphic epitheliotropic intestinal T-cell lymphoma (MEITL)", "standardized_diagnosis": [{"original_term": "Monomorphic epitheliotropic intestinal T-cell lymphoma", "corrected_term": null, "code": "2A90.7", "title": "Intestinal T-cell lymphoma", "chapter": "Neoplasms", "primary": true}]}, "year": 2019, "classification": "Neoplastic diseases"}
+{"pmid": "32695788", "patient_info": {"basic_info": "39-year-old Hispanic woman presented 1 year ago with progressive proteinuria (initially 1-2 g/24h), and hypertension. No known diabetes, obesity, or malignancies. Extensive infectious disease evaluation negative for hepatitis A, HBV, HCV, HIV, treponemal serologies, tuberculosis, and coccidiomycosis. Extensive serological evaluation negative for lupus (ANA, anti-dsDNA, anti-histone, anticentromere, RNP, anti-smith, SSA/SSB antibodies all negative), rheumatoid factor negative, scleroderma antibodies negative, anti-CCP negative, cardiolipin antibodies negative, and ANCA panel negative. Complement titers (CH50) near lower limit of normal at 43 units/mL (reference 42-95), isolated depression of C3 at 67 mg/dL (reference 76-165), normal C4 at 23 mg/dL (reference 16-48). Serum and urine electrophoresis with immunofixation showed no monoclonal spike. Free light chain kappa to lambda ratio normal at 1.66.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/32695788/fig/1.jpg"], "caption": "(A, B) Renal biopsy, light microscopy, silver stain, 40× magnification. (C, D) Renal biopsy, light microscopy, hematoxylin and eosin stain, 40× magnification. (E) Renal biopsy, immunofluorescence, IgG staining. (F) Renal biopsy, immunofluorescence, C3 staining greater than IgG staining. (G) Renal biopsy, electron microscopy. (H) Renal biopsy, electron microscopy. (I) Renal biopsy, electron microscopy.", "detailed_caption": "Renal biopsy data for Case 1: (A) light microscopy 40× silver stain Double contours and segmental scar; (B) light microscopy 40× silver stain Double contours with endocapillary hypercellularity and segmental scar; (C) light microscopy 40× hematoxylin and eosin cellular crescent with segmental karyorrhexis; (D) light microscopy 40× hematoxylin and eosin tubulointerstitial inflammation; (E) immunofluorescence IgG staining; (F) immunofluorescence showed C3 staining > IgG staining. (G) Electron microscopy, subendothelial deposits (red arrows); (H) electron microscopy, subepithelial deposits (red arrows); (I) electron microscopy, mesangial deposits (red arrows).", "modalities": ["pathology"]}, {"type": "tab", "id": 1, "subfig": null, "path": ["images/32695788/tab/2.jpg"], "caption": "(A) Light microscopy of kidney biopsy. (B) Immunofluorescence of kidney tissue. (C) Electron microscopy of kidney tissue. (D) Complement profile. (E) Genetic analysis. (F) Laboratory test results.", "detailed_caption": "Shows Case 1 as 41-year-old Hispanic female with MPGN, endothelial swelling, crescents on light microscopy; C3 > Ig on immunofluorescence; subendothelial and subepithelial deposits on electron microscopy; low C3 with normal sC5b-9 on complement profile; no genetic mutations found; peak protein 4-6 g/g creatinine and peak serum creatinine 3 mg/dL.", "modalities": ["pathology", "genetic", "lab"]}], "diagnosis": "Immune-complex mediated membranoproliferative glomerulonephritis with C3 dominant staining", "standardized_diagnosis": [{"original_term": "Immune-complex mediated membranoproliferative glomerulonephritis", "corrected_term": null, "code": "MF8Y", "title": "membranoproliferative glomerulonephritis", "chapter": "Diseases of the genitourinary system", "primary": true}]}, "year": 2020, "classification": "Infectious and immunologic disorders"}
+{"pmid": "31681172", "patient_info": {"basic_info": "A 7.8-year-old Caucasian girl presented with short stature and excess body mass. Her height was 114 cm and weight was 24 kg (+14.7% excess body weight, BMI 18.5 kg/m2, 87th percentile, Z-score 1.12). She had lost 6 kg within the previous 6 months due to lifestyle modifications. Mid-parental height was between 50th-75th percentiles. Physical examination showed pubarche stage II (Tanner scale) without axillarche, and doubtful thelarche difficult to differentiate from steatomastia. Initial laboratory tests showed normal urinary-free cortisol, morning serum ACTH, cortisol, and 17-OHP concentrations. GnRH stimulation test did not confirm central precocious puberty. Initial MRI of hypothalamic-pituitary area was normal. Six months later, she returned with rapid weight gain, skin darkening, nocturnal anxiety, depressive behavior, insomnia, and excessive sweating. She showed obesity mainly on face, neck and abdomen, acanthosis nigricans on neck, hirsutism on back, thighs and upper lip, with pubarche stage II but no breast development. Subsequent tests showed 10-fold elevated UFC (219-284 µg/24h, normal <27), reversed cortisol profile (8am: 9.5 µg/dl, 8pm: 18.5 µg/dl, midnight: 25.4 µg/dl), and ACTH of 37.9 pg/ml.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/31681172/fig/1.jpg"], "caption": "Growth chart tracking height over time relative to age- and sex-specific percentiles, with initial measurement at the 25th percentile, subsequent trajectory at the 3rd percentile, and mid-parental height range between the 50th and 75th percentiles.", "detailed_caption": "Figure 1 presents a growth chart illustrating the patient's height trajectory over time, with reference to age- and sex-specific percentiles; it visually demonstrates linear growth at the 3rd percentile following an initial measurement at the 25th percentile in early childhood, alongside the patient's mid-parental height range between the 50th and 75th percentiles. The chart details the pattern of linear growth deceleration associated with cyclic Cushing’s disease in this prepubertal patient, integrating standard clinical growth chart methodology without subjective interpretation or additional imaging modalities.", "modalities": []}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/31681172/fig/2.jpg"], "caption": "Body mass chart showing body weight versus age in years.", "detailed_caption": "Figure 2, as presented on page 4 of the document, is a body mass chart depicting the weight trajectory of the patient diagnosed with cyclic Cushing’s disease. The chart, which visually represents body mass against age in years, illustrates the marked fluctuations and rapid increases in the patient’s body weight over time, corresponding to episodes of hypercortisolemia and remission phases characteristic of the disorder. The graph serves as an objective record of the cyclical nature of weight gain associated with the disease course in this prepubertal patient.", "modalities": ["clinical"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/31681172/fig/3.jpg"], "caption": "MRI of the pituitary gland.", "detailed_caption": "MR image showing 3x4mm pituitary adenoma in the right-sided part of anterior pituitary gland", "modalities": ["mri"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/31681172/fig/4.jpg"], "caption": "(A) Clinical photograph at age 7 years and 2 months. (B) Clinical photograph at age 7 years and 8 months. (C) Clinical photograph at age 8 years and 6 months.", "detailed_caption": "Patient photos showing cyclic changes in appearance at ages 7 2/12, 7 8/12, and 8 6/12 years", "modalities": ["clinical"]}], "diagnosis": "Cyclic Cushing's Disease caused by an atypical, densely-granulated pituitary corticotroph adenoma", "standardized_diagnosis": [{"original_term": "Cyclic Cushing's disease", "corrected_term": null, "code": "5A70.0", "title": "Cushing disease", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": true}, {"original_term": "Pituitary corticotroph adenoma", "corrected_term": null, "code": "5A70.0", "title": "Corticotroph pituitary adenoma", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": false}]}, "year": 2019, "classification": "Endocrine and metabolic disorders"}
+{"pmid": "32533553", "patient_info": {"basic_info": "45-year-old female with 13-year history of papular spiny eruptions on trunk and limbs with severe pruritus. Patient was otherwise in good health. Family history positive for psoriasis in sister. Treatment history included topical steroids and oral antihistamines without relief. Papular lesions on body presented before the alopecia of scalp and pubis, while axillae had been involved for 6 years.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/32533553/fig/1.jpg"], "caption": "(A) Clinical photograph of the left shoulder. (B) Dermoscopic examination of the left shoulder, 20× magnification. (C) Clinical photograph of the scalp. (D) Dermoscopic examination of the scalp, 20× magnification. (E) Clinical photograph of the pubic region. (F) Dermoscopic examination of the pubic region, 20× magnification. (G) Clinical photograph of the right thigh. (H) Dermoscopic examination of the right thigh, 20× magnification.", "detailed_caption": "Baseline clinical and dermoscopic evaluation: a Spiny papules of the left shoulder (red arrow); b dermoscopic pattern (20×) of affected skin of the shoulder: multiple round-to-oval yellowish areas with keratotic follicular plugs surrounded by mild erythema (yellow arrows); c scarring alopecia of the scalp and detail (inset); d dermoscopic pattern of scarring alopecia of the scalp (20×): blue-gray dots in a target pattern, tufted hair (yellow circle) and perifollicular scaling (asterisk); e clinical picture of non-scarring alopecia of pubis; e dermoscopic pattern (20×) showing isolated yellow dots (black arrow); g spiny papules of the right thigh (red arrow); h dermoscopic pattern (20×) of affected skin of the thigh: multiple round-to-oval yellowish areas with keratotic follicular plugs surrounded by mild erythema (yellow arrows)", "modalities": ["clinical"]}, {"type": "fig", "id": 2, "subfig": "A-C", "path": ["images/32533553/fig/2.jpg"], "caption": "In vivo reflectance confocal microscopy of a shoulder papular lesion.", "detailed_caption": "In vivo RCM of papular shoulder lesion shows hyperreflective multiple round-to-oval areas with keratotic follicular plugs and hyperkeratosis, and loss of papillae cyclicity as indirect sign of junctional inflammatory infiltrate.", "modalities": ["ophthalmic imaging"]}, {"type": "fig", "id": 2, "subfig": "D-F", "path": ["images/32533553/fig/3.jpg"], "caption": "(A) Left shoulder skin biopsy, H&E staining. (B) Scalp biopsy, H&E staining. (C) PAS staining of left shoulder skin biopsy.", "detailed_caption": "Histologic examination of 5-mm punch biopsy from left shoulder papular lesion revealed dilated follicular ostia with compact hyperkeratosis, focally associated with perifollicular and perivascular lichenoid inflammatory infiltrate composed of little non-atypical lymphocytes. Junctional vasculopathy and rare acidophilic bodies were detected. PAS staining was negative for mycotic hyphae and spores. Features compatible with lichen spinulosus. Additional scalp biopsy showed diffuse fibrotic tissue, mild perivascular and perifollicular mononuclear inflammatory infiltrate and presence of arrector pili muscles without associated follicles, confirming scarring alopecia.", "modalities": ["pathology"]}], "diagnosis": "Graham Little-Piccardi-Lassueur syndrome (GLPLS)", "standardized_diagnosis": [{"original_term": "Graham Little-Piccardi-Lassueur syndrome", "corrected_term": null, "code": "EA91.2", "title": "Lassueur-Graham-Little syndrome", "chapter": "Diseases of the skin", "primary": true}]}, "year": 2020, "classification": "Dermatologic and mucosal diseases"}
+{"pmid": "32457846", "patient_info": {"basic_info": "42-year-old Caucasian male presented with progressive fatigue, chills, night sweats, and unwanted weight loss. He was found to have left cervical lymphadenopathy.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/32457846/fig/1.jpg"], "caption": "(A) Cervical lymph node biopsy, H&E staining. (B) Cervical lymph node biopsy, H&E staining. (C) Cervical lymph node biopsy, immunohistochemistry for CD3. (D) Cervical lymph node biopsy, immunohistochemistry for CD30. (E) Cervical lymph node biopsy, immunohistochemistry for ALK1. (F) Cervical lymph node biopsy, immunohistochemistry for TIA1. (G) Cervical lymph node biopsy, immunohistochemistry for CD68.", "detailed_caption": "Cervical lymph node biopsy showed effacement of architecture (A) with atypical cells, often containing “hallmark” cells with kidney-shaped nuclei (B).Immunohistochemical stains showed these neoplastic cells to be weak or negative for CD3 (C) and strongly positive for CD30 (D). ALK1 immunostain showed granular cytoplasmic positivity (E) while TIA1 was variably positive (F). Staining for histiocyte CD68 showed increased histiocytes.", "modalities": ["pathology"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/32457846/fig/2.jpg"], "caption": "Genetic analysis, next-generation sequencing translocation analysis, E-score reported.", "detailed_caption": "Next-generation sequencing translocation analysis showed reads aligned with exon 20 of ALK1 were found to be adjacent with reads aligned with exon 7 of the TRAF1 gene. E-score represents a confidence score whereby lower values reflect higher confidence of sequence alignment in the reads.", "modalities": ["genetic"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/32457846/fig/3.jpg"], "caption": "(A) Bone marrow biopsy, H&E staining, low magnification, performed at disease staging. (B) Bone marrow biopsy, H&E staining, high magnification, performed at disease staging.", "detailed_caption": "Figure 3 consists of photomicrographs from a bone marrow biopsy, showing in panel A a low-power hematoxylin and eosin (H&E) stained section with diffuse involvement by lymphoma, and in panel B a higher-power H&E image depicting atypical cells that are morphologically similar to those observed in the lymph node biopsy, including hallmark features. There are no immunohistochemical stains or molecular analyses shown in this figure, and the biopsy was performed at the time of disease staging, following the initial diagnosis.", "modalities": ["pathology"]}], "diagnosis": "Anaplastic large cell lymphoma (ALCL), ALK+ with TRAF1-ALK fusion", "standardized_diagnosis": [{"original_term": "Anaplastic large cell lymphoma, ALK-positive", "corrected_term": null, "code": "2A90.A", "title": "Anaplastic large cell lymphoma, ALK-positive", "chapter": "Neoplasms", "primary": true}]}, "year": 2020, "classification": "Neoplastic diseases"}
+{"pmid": "32733453", "patient_info": {"basic_info": "13-year-old boy with a previous history of Hashimoto's thyroiditis presenting with muscle pain, dry skin, and subtle memory complaints. Six months after initial diagnosis, cognitive complaints worsened and school performance declined, indicating further deterioration in cognitive abilities. One year after first memory complaints, patient was referred with suspicion of autoimmune encephalitis. Family history was positive for hypothyroidism. At time of admission, patient was suffering from amnesia and had long lapses of concentration with absence-like episodes. Neurological examination showed no focal deficits or other abnormalities.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/32733453/fig/1.jpg"], "caption": "(A) Clinical timeline of serological values for creatinine kinase, thyroid-stimulating hormone, TPO autoantibodies, and thyroxine levels. (B) Wechsler intelligence scale for children results at ages 6, 8, and 13: total IQ, verbal IQ, and performance IQ. (C) EEG during photic stimulation at 50 Hz.", "detailed_caption": "Clinical timeline, IQ, and EEG. (A) Clinical timeline representing the evolution of serological values of creatinine kinase, thyroid-stimulating hormone (TSH),\nTPO autoantibodies and thyroxine levels. Treatment intervention is also illustrated as well as qualitative disease progression. (B) IQ progression by Wechsler intelligence scale for children. Total IQ (TIQ), verbal IQ (VIQ), and performance IQ (PIQ) at the age of 6, 8, and 13. The average score for the test is 100, and any score between 90 and 109 is considered to be in the average intelligence range. (C) EEG showing generalized spike and wave discharge with right frontal dominance during photic stimulation with 50 Hz.", "modalities": ["lab", "clinical", "electrophysiology"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/32733453/fig/2.jpg"], "caption": "(A–D) Rat brain immunohistochemistry, IgG reactivity of patient serum at first presentation (A), 1 month after first presentation (B), 1 year after first presentation (C), and after IVIG infusion (D). (E) Rat brain immunohistochemistry, IgG reactivity of serum from a patient with epilepsy and TPO autoantibodies. (F) Rat brain immunohistochemistry, IgG reactivity of serum from a non-disease control. (G) Quantification of relative optical density in different areas of the rat hippocampus.", "detailed_caption": "Identification and quantification of a novel neuropil-like hippocampal pattern in rat brain sections. (A–F) Rat brain immunohistochemistry IgG reactivity of serum. (A–D) Brain immunoreactivity of sera of the Hashimoto’s encephalopathy patient case at different time points: (A) At first presentation, (B) 1 month after first presentation, (C) 1 year after first presentation, and (D) after IVIG infusion. (E) brain immunoreactivity of serum from a patient with epilepsy and TPO autoantibodies. (F) brain immunoreactivity of serum from a non-disease control. The arrows in panels (C,F) point at areas shown at higher magnification in panel (C1,F1), respectively. Note the predominance of a neuropil-like pattern in panel (C1). (G) Relative optical density quantification in different areas of the hippocampus, outlined in yellow. SO, stratum oriens; SR, stratum radiatum; SML, stratum lacunosum; ML, molecular layer of dentate gyrus; GL, granule cell layer. Scale bars are 100 and 20 μm.", "modalities": ["pathology", "lab"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/32733453/fig/3.jpg"], "caption": "(A)–(C) Immunofluorescence staining of cultured, live primary hippocampal neurons, with human IgG (green), microtubules (MAP2; red), and nuclei (Hoechst; blue). (A1,B1,C1) Merged nuclear and dendrite staining. (A2,B2,C2) Merged nuclear and human IgG staining. (A3,B3,C3) Merged nuclear, dendrite, and human IgG staining. (A4,B4,C4) High magnification immunofluorescence staining of a dendrite. 50 μm scale bars.", "detailed_caption": " Patient’s autoantibodies recognize an unidentified neuronal surface antigen in cultured primary hippocampal neurons. Immunofluorescent photomicrographs of cultured, live primary hippocampal neurons. Human IgGs are stained in green fluorescence, microtubules (MAP2) in red fluorescence, and cell nuclei (Hoechst DNA stain) in blue fluorescence. Serum immunostaining of (A) a patient with DPPX antibodies, as a control, (B) the Hashimoto’s encephalopathy patient case, and (C) a non-disease control. (A1,B1,C1) show the merge of nuclear and dendrite staining, (A2,B2,C2) show the merge of nuclear and human IgG staining, (A3,B3,C3) show the merge of all three fluorescent stainings. (A4,B4,C4) show the immunofluorescence staining of a dendrite at higher magnification. Scale bars are 50 μm.", "modalities": ["pathology"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/32733453/fig/4.jpg"], "caption": "Graph: TPO antibody levels (IU/mL) measured at six consecutive steps of immune-adsorption using recombinant human TPO protein, in sera from a patient with TPO antibody-positive thyroiditis, a patient with Hashimoto’s encephalopathy, a patient with autoimmune encephalitis and DPPX antibodies, a non-disease human serum control, a positive calibrator control, and a negative calibrator control. (A1–D1) Rat brain immunohistochemistry using non-immune-adsorbed sera; (A2–D2) rat brain immunohistochemistry using immune-adsorbed sera; scale bar=100 μm.", "detailed_caption": "TPO autoantibodies are not responsible for the neuronal reactivity and TPO immuno-adsorption shows co-existence of autoantibodies. Graph on the left panel: TPO antibody levels (IU/mL) at six consecutive steps of immune-adsorption using wells coated with recombinant human TPO protein. TPO antibody was depleted from the sera of the following patients: a patient with TPO antibody-positive thyroiditis (purple squares), the Hashimoto’s encephalopathy patient (green closed circles), a patient with autoimmune encephalitis and dipeptidyl-peptidase-like protein 6 (DPPX) antibodies (magenta inverted triangles), and a non- disease human serum control (NHS) (blue triangles). A positive (open diamond) and a negative (open circle) calibrator control were included without absorption. Right panel: Rat brain immunohistochemistry using non-immuno-adsorbed sera (A1–D1) and immune-adsorbed sera (A2–D2) from panel (A) a patient with DPPX antibodies, (B) the Hashimoto’s encephalopathy patient, (C) a patient with TPO positive antibody thyroiditis, and (D) a non-disease control. Scale bar is 100 μm.", "modalities": ["lab", "pathology"]}], "diagnosis": "Hashimoto's encephalopathy with unidentified neuronal surface IgG autoantibodies", "standardized_diagnosis": [{"original_term": "Hashimoto's encephalopathy", "corrected_term": null, "code": "8E4A.0", "title": "Hashimoto’s encephalopathy", "chapter": "Diseases of the nervous system", "primary": true}, {"original_term": "Autoimmune encephalopathy associated with neuronal surface IgG autoantibodies", "corrected_term": null, "code": "8E4A.0", "title": "Autoimmune encephalopathy", "chapter": "Diseases of the nervous system", "primary": false}]}, "year": 2020, "classification": "Neurological disorders"}
+{"pmid": "32640739", "patient_info": {"basic_info": "A 47-year-old woman admitted with left lumbar pain and macroscopic hematuria. Medical history unremarkable. Physical examination showed pale skin without peripheral edema, blood pressure 130/80 mmHg, diuresis 1000 mL/day. Had moderate normocytic anemia. Negative for ANA, anti-ds-DNA, anti-Ro, anti-La, anti-Sm, anti-RNP, anti-β2-glycoprotein 1, antiphospholipid, cANCA, pANCA, anti-GBM antibodies, cryoglobulins, and rheumatoid factor. Negative for hepatitis B, C, and HIV. No monoclonal spike on serum protein electrophoresis.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/32640739/tab/1.jpg"], "caption": "Laboratory results.", "detailed_caption": "Laboratory data shows serum creatinine 4.29 mg/dL, eGFR 12 mL/min/1.73 m², serum albumin 2.8 g/dL, proteinuria 13.4 g/24h, hematuria 1937 RBC/μL, anti-C1q antibodies 75.8 U/mL, C3 58.4 mg/dL, C4 9.24 mg/dL, CRP 37.5 mg/L", "modalities": ["lab"]}, {"type": "fig", "id": 1, "subfig": null, "path": ["images/32640739/fig/2.jpg"], "caption": "(A) Immunofluorescence for IgG in the glomerulus. (B) Immunofluorescence for C3 in the glomerulus. (C,D) Light microscopy with Toluidin Blue staining of the glomerulus. (E,F) Electron microscopy of the glomerulus.", "detailed_caption": "(A) Immunofluorescence. Moderate staining for IgG in the mesangium and along the glomerular capillary walls. (B) Immunofluorescence. Minimal staining for C3 in the mesangium and along the glomerular capillary walls. (C) Light microscopy (Toluidin Blue). Glomerulus with a membranoproliferative pattern of injury, fibrinoid necrosis and a fibro-cellular crescent. (D) Light microscopy (Toluidin Blue). Glomeruli showing a membranoproliferative pattern with diffuse lobular accentuation (mesangial expansion with hypercellularity, endocapillary hypercellularity and fibrous crescents). There is also moderate tubular atrophy and interstitial fibrosis. (E,F) Electron microscopy. There are subendothelial, unstructured, electron-dense deposits. Podocytes show diffuse foot process effacement. Additionally, there is severe endothelial injury with swollen glomerular endothelial cells and loss of fenestrations.", "modalities": ["pathology"]}], "diagnosis": "Immune complex mediated membrano-proliferative glomerulonephritis with positive C1q immunostaining, crescent formation, circulating anti-C1q antibodies and complement activation consistent with hypocomplementemic urticarial vasculitis syndrome (HUVS)", "standardized_diagnosis": [{"original_term": "Immune complex mediated membrano-proliferative glomerulonephritis", "corrected_term": null, "code": "MF8Y", "title": "membranoproliferative glomerulonephritis", "chapter": "Diseases of the genitourinary system", "primary": false}, {"original_term": "Hypocomplementemic urticarial vasculitis syndrome", "corrected_term": null, "code": "BD42.1/4A44.91", "title": "Raynaud syndrome[Hypocomplementaemic urticarial vasculitis]", "chapter": "Diseases of the skin", "primary": true}]}, "year": 2020, "classification": "Infectious and immunologic disorders"}
+{"pmid": "32785838", "patient_info": {"basic_info": "36-year-old female with no past medical history who developed lower limbs and para-spinal muscle spasms that progressed over 3 months. Her symptoms continued to progress and she became wheelchair-bound 6 months later. When reviewed at institution, she was severely disabled requiring regular IVIG treatments at a dose of 90g every 12 days. She was taking regular diazepam at a dose of 30mg per day and morphine up to 60mg a day to control pain. On examination, she had brisk reflexes and severe clonus. The muscle spasms were severe enough to compromise her breathing and she required intermittent oxygen.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/32785838/tab/1.jpg"], "caption": "Table summarizing demographics, clinical phenotypes, neurophysiological and serological profiles, treatments attempted, disease duration before transplantation, and neurological outcomes after autologous haematopoietic stem cell transplantation for patients with stiff-person syndrome.", "detailed_caption": "Table 1 summarizes the demographics, clinical phenotypes, neurophysiological and serological profiles, treatments attempted, disease duration before transplantation, and neurological outcomes after autologous haematopoietic stem cell transplantation (auto-HSCT) for all patients with stiff-person syndrome (SPS) referred for consideration of auto-HSCT at the studied institution. It includes details such as patient age, gender, SPS phenotype, co-morbidities, findings on EMG and blink reflex studies, circulating antibody titers (including anti-GAD and anti-glycine where applicable), immunotherapies previously used (e.g., IVIG, plasmapheresis, rituximab, mycophenolate), duration of disease before HSCT, and post-HSCT neurological status—describing whether the patient experienced clinical and serological improvement, remained seropositive, discontinued immunotherapy, or was not transplanted due to clinical reasons or funding constraints. This table integrates crucial patient-specific and procedural data for the cohort assessed for stem cell transplantation in refractory SPS.", "modalities": ["clinical", "lab", "electrophysiology"]}, {"type": "fig", "id": 1, "subfig": null, "path": ["images/32785838/fig/2.jpg"], "caption": "EEG/EMG polygraphy recording during presentation of a low intensity auditory stimulus (approximately 50dB).", "detailed_caption": "EEG/EMG polygraphy recording capturing exaggerated startle response to an unanticipated auditory stimulus. Low intensity unanticipated auditory stimulus around 50dB elicited prominent muscle jerks within 92ms from stimulus presentation followed by protracted spasms in multiple muscle groups", "modalities": ["electrophysiology"]}, {"type": "fig", "id": 2, "subfig": "A", "path": ["images/32785838/fig/3.jpg"], "caption": "Blink reflex study, R2 component.", "detailed_caption": "Blink reflex study showing marked amplification of the R2 component recorded following test stimulus in keeping with brainstem hyperexcitability. The pre-HSCT study shows clear enhancement of the R2 response that follows the test stimulus in comparison to the earlier R2 waveform", "modalities": ["electrophysiology"]}], "diagnosis": "Classical form of SPS (Stiff Person Syndrome)", "standardized_diagnosis": [{"original_term": "Stiff Person Syndrome", "corrected_term": null, "code": "8E4A.0", "title": "Stiff person syndrome", "chapter": "Diseases of the nervous system", "primary": true}]}, "year": 2021, "classification": "Neurological disorders"}
+{"pmid": "33050328", "patient_info": {"basic_info": "A 35-year-old female patient attended the outpatient clinics of the Thoracic Surgery Service, referred by her general practitioner for dyspnea and persistent episodes of coughing. Physical examination revealed bilateral diffuse crackles upon auscultation of the lungs. She had a 4-year history of recurrent episodes of pneumonia, which had required hospitalization and antibiotic management. There was no past history of cigarette smoking or secondhand smoke exposure and her family history was negative.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/33050328/fig/1.jpg"], "caption": "(A, C) Chest CT with contrast, axial view, posterior segment of the left lower lobe, lesion size 67×69×88 mm, cysts 15–35 mm. (B, D) Chest CT with contrast, coronal view, posterior segment of the left lower lobe, lesion size 67×69×88 mm, cysts 15–35 mm.", "detailed_caption": "Chest CT scan shows a multicystic mass vascularized by an aberrant vessel in the posterior segment of the lower left lobe. The axial(a,c) and coronal(b,d) images with contrast show a hypodense, cystic avascular lesion with multiple internal septa (multicystic) measuring greater than 67×69×88 mm (PA×T×L). The cysts measure between 15 and 35 mm, are located in the posterior segment of the left lower lobe, and contain air-fluid levels. Peripheral parenchyma bronchial wall thickening and centrilobular micronodules are also evidenced. Images obtained using multiplanar reformation outline the course of an aberrant arterial vessel originating from the left lateral aspect of the thoracic aorta and supplying the left basal cystic lesion.", "modalities": ["ct"]}, {"type": "tab", "id": 1, "subfig": null, "path": ["images/33050328/tab/2.jpg"], "caption": "Laboratory test results on admission.", "detailed_caption": "Clinical laboratory test results on admission show elevated white blood cell count of 22.2×10⁹/L with neutrophil predominance (20.7×10⁹/L). Normal serum values were found for hemoglobin (12.2 g/dL), electrolytes (sodium 142 mmol/L, potassium 3.9 mmol/L, chloride 106 mmol/L), creatinine (0.5 mg/dL), glucose (103 mg/dL), pH (7.37) and lactic acid (0.6 mmol/L).", "modalities": ["lab"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/33050328/fig/3.jpg"], "caption": "(A) Histopathological examination, H&E staining, 10× magnification. (B) Histopathological examination, H&E staining, 100× magnification. Gram staining.", "detailed_caption": "Histopathological examination shows Actinomyces colonies with characteristic 'sulfur granules' at low magnification (10×; H&E stain)(A), and at higher magnification (100×; H&E stain)(B) demonstrates filamentous nonsporulating microorganisms. Gram-positive bacteria consistent with Actinomyces spp. were visualized by Gram staining technique using crystal violet as reagent. Other staining procedures for fungi and acid-alcohol-resistant microorganisms were negative.", "modalities": ["pathology"]}], "diagnosis": "Intralobar bronchopulmonary sequestration associated with Actinomyces infection", "standardized_diagnosis": [{"original_term": "Intralobar bronchopulmonary sequestration", "corrected_term": null, "code": "LA75.6", "title": "Intralobar sequestration of lung", "chapter": "Diseases of the respiratory system", "primary": true}, {"original_term": "Actinomyces infection", "corrected_term": null, "code": "1C10.Z", "title": "actinomyces infection", "chapter": "Certain infectious or parasitic diseases", "primary": false}]}, "year": 2020, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "33066681", "patient_info": {"basic_info": "67-year-old female patient presented with chief complaint of swelling in right cheek. History of unhealed tooth extraction sockets from right upper posterior tooth extraction performed approximately one month previously. Past medical history significant for colorectal cancer treatment. Intraoral examination revealed localized, well-defined swelling measuring 4 cm × 5 cm obliterating buccal and palatal vestibules in region of unhealed extraction sockets of teeth 14, 15, and 16. Laboratory examination showed abnormal GTP level and slightly elevated serum CRP level.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/33066681/fig/1.jpg"], "caption": "(A) Intraoral view at the first examination. (B) Coronal computed tomography of the maxilla. (C) Axial computed tomography of the maxilla.", "detailed_caption": "(a) An intraoral view at the first examination. A localized, well-defined swelling of size 4 cm × 5 cm in its greatest dimensions was obliterating the buccal and palatal vestibules in the region of the unhealed extraction sockets of 14, 15 and 16. Coronal (b) and axial (c) computed tomography imaging showed the osteolytic focus in the maxilla (white arrowhead).", "modalities": ["clinical", "ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/33066681/fig/2.jpg"], "caption": "(a) Oral specimen, Giemsa staining, 40× magnification. (b) Oral specimen, Giemsa staining, 100× magnification. (c) Liquid-based cytology of oral specimen, Papanicolou staining, 40× magnification. (d) Liquid-based cytology of oral specimen, Papanicolou staining, 100× magnification.", "detailed_caption": "Microscopic view of oral specimens harvested from suspicious lesions. Large atypical lymphocytes with an irregular nuclear shape (Giemsa staining, (a) magnification 40×, bar = 20 μm (b) magnification 100×, bar = 5 μm). In the liquid-based cytology (LBC) specimen, (c) large atypical lymphocytes with a high nuclear/cytoplasmic ratio were recognized with prominent nucleoli (Papanicolou staining, magnification 40×, bar = 20 μm); (d) The nuclear strips implied nuclear fragility (Papanicolou staining, magnification 100×, bar = 5 μm).", "modalities": ["pathology"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/33066681/fig/3.jpg"], "caption": "Cell block immunohistochemistry, Ki-67 positive, positive for MUM1, BCL6, BCL2, CD79a, CD20, negative for CD10, CD3, CD25, CD30, CD56.", "detailed_caption": "Cell block immunohistochemistry showed large lymphocytes positive for MUM1, BCL6, BCL2, CD79a, CD20, and Ki67, while negative for CD10, CD3, CD25, CD30, and CD56. Expression pattern CD10-/BCL6+/MUM1+ classified as ABC phenotype", "modalities": ["pathology"]}], "diagnosis": "Primary oral diffuse large B cell lymphoma (DLBCL), activated B-cell (ABC) phenotype", "standardized_diagnosis": [{"original_term": "Primary oral diffuse large B-cell lymphoma", "corrected_term": null, "code": "2A81.Z", "title": "Diffuse large B-cell lymphomas", "chapter": "Neoplasms", "primary": true}]}, "year": 2020, "classification": "Neoplastic diseases"}
+{"pmid": "31878983", "patient_info": {"basic_info": "28-year-old male patient admitted on November 27, 2013, complaining of diarrhea (loose stool, three to five times per day) for over 10 years and hematochezia for about 1 month. Had been diagnosed with iron deficiency anemia 5 months after birth, with hemoglobin level remaining 70-80 g/L (normal range 110-150 g/L) for most of the time. On admission, albumin level was 26 g/L (normal range 35-52 g/L). Liver and renal function were otherwise normal. Patient reported recurrent arthralgia in the knee and ankle joints.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/31878983/fig/1.jpg"], "caption": "CT of the small intestine, contrast-enhanced.", "detailed_caption": "Contrast-enhanced CT showed abnormal enhancement of the mucosa and thickening of the small intestinal wall", "modalities": ["ct"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/31878983/fig/2.jpg"], "caption": "Clinical photograph obtained during gastroscopy of the gastric fundus.", "detailed_caption": "B: Gastroscopy showed a clinical photograph of the gastric mucosa revealing fundic gland polyps, acquired during endoscopic examination of the stomach; no staining or magnification applies to this modality, and the anatomical site examined is the gastric fundus as indicated in the caption and body text on page 3.", "modalities": ["clinical", "endoscopy"]}, {"type": "fig", "id": 1, "subfig": "C", "path": ["images/31878983/fig/3.jpg"], "caption": "Colonoscopy image of the terminal ileum and colon, including the ileocecal valve.", "detailed_caption": "C: Colonoscopy image of the terminal ileum and colon showing an ulcer and hemorrhagic spots on the ileocecal valve, indicating mucosal abnormalities during endoscopic examination in a patient with primary hypertrophic osteoarthropathy and gastrointestinal involvement.", "modalities": ["endoscopy"]}, {"type": "fig", "id": 1, "subfig": "D", "path": ["images/31878983/fig/4.jpg"], "caption": "Capsule endoscopy of the ileum.", "detailed_caption": "Capsule endoscopy revealed ulcer of the ileum", "modalities": ["endoscopy"]}, {"type": "fig", "id": 1, "subfig": "E", "path": ["images/31878983/fig/5.jpg"], "caption": "Double balloon enteroscopy of the ileum.", "detailed_caption": "Double balloon enteroscopy showed ileum stenosis", "modalities": ["endoscopy"]}, {"type": "fig", "id": 1, "subfig": "F", "path": ["images/31878983/fig/6.jpg"], "caption": "X-ray of the ulna and radius.", "detailed_caption": "X-ray showed periostosis of ulna and radius", "modalities": ["x-ray"]}, {"type": "fig", "id": 1, "subfig": "G", "path": ["images/31878983/fig/7.jpg"], "caption": "Clinical photograph of the face.", "detailed_caption": "G: Skin thickening and furrowing on the face are shown in a clinical photograph, demonstrating cutaneous changes associated with primary hypertrophic osteoarthropathy in patient 1.", "modalities": ["clinical"]}, {"type": "fig", "id": 1, "subfig": "H", "path": ["images/31878983/fig/8.jpg"], "caption": "(H) Clinical photograph of the hand.", "detailed_caption": "H: Clubbed finger; the subfigure presents a clinical photograph of the patient’s hand showing digital clubbing, which is a typical finding in primary hypertrophic osteoarthropathy, with no additional imaging modality or staining applicable.", "modalities": ["clinical"]}, {"type": "fig", "id": 1, "subfig": "I", "path": ["images/31878983/fig/9.jpg"], "caption": "Genetic sequence analysis of SLCO2A1 (homozygous c.1807C>T, R603X) from peripheral blood.", "detailed_caption": "I: GeneScreen display of SLCO2A1 mutation (homozygous c1807 C > T, R603X), showing the results of genetic sequence analysis from a peripheral blood sample acquired during the patient's diagnostic workup.", "modalities": ["genetic"]}, {"type": "fig", "id": 1, "subfig": "J-K", "path": ["images/31878983/fig/10.jpg"], "caption": "H&E staining of the ileum.", "detailed_caption": "HE stain of the ileum showing superficial ulcers involving mucosa and submucosa of the small intestine", "modalities": ["pathology"]}], "diagnosis": "Primary hypertrophic osteoarthropathy (PHO) based on clinical characteristics, radiological findings, and gene mutation", "standardized_diagnosis": [{"original_term": "Primary hypertrophic osteoarthropathy", "corrected_term": null, "code": "FB86.10", "title": "Primary hypertrophic osteoarthropathy", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": true}]}, "year": 2019, "classification": "Orthopedic and connective tissue disorders"}
+{"pmid": "32041552", "patient_info": {"basic_info": "A 54-year-old man from rural area of the department of Risaralda (Colombia), coffee farmer in his youth and then worked as a butcher for 30 years. Medical history includes type 2 Diabetes Mellitus (recently diagnosed, receiving Metformin) and former smoker with a pack-year of 1.5 for 10 years. Presented with 3 years of a papule-like lesion in the lower lip that increased in size and evolved to a deforming ulcer with extension towards the right labial commissure, progressive deformity in the right nasal wing, spontaneous loss of teeth, weight loss of 15 Kg, dry cough and dyspnea, without other B symptoms. Interestingly, he had the habit of consuming armadillo meat and blood in his youth.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/32041552/fig/1.jpg"], "caption": "(A) Clinical photograph of the lower lip at presentation. (B) Clinical photograph of the right nasal wing at presentation.", "detailed_caption": "Figure 1 consists of two clinical photographs documenting mucocutaneous findings at presentation: A shows a deforming and infiltrating ulcer located on the lower lip, while B depicts a deformity of the right nasal wing; both are gross clinical images obtained during physical examination prior to biopsy or treatment, demonstrating cutaneous and mucosal involvement in chronic multifocal paracoccidioidomycosis.", "modalities": ["clinical"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/32041552/fig/2.jpg"], "caption": "Lip biopsy, silver methenamine stain.", "detailed_caption": "Silver methenamine stain reveals budding yeasts that resembles a 'mariner's wheel' from lip biopsy showing pseudoepitheliomatous hyperplasia associated with suppurative granulomatous dermatitis", "modalities": ["pathology"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/32041552/fig/3.jpg"], "caption": "(A) Chest x-ray. (B) High Resolution CT of the chest, lung window.", "detailed_caption": "(a) Chest x-ray showing interstitial opacities and fibrotic tracts in the lung bases. (b) High Resolution Tomography of the chest. Lung window showing centrilobular and paraseptal emphysematous foci", "modalities": ["x-ray", "ct"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/32041552/fig/4.jpg"], "caption": "Nasofiberoptic bronchoscopy of the upper airway.", "detailed_caption": "Figure 4 depicts nasofiberoptic bronchoscopy images of the upper airway, showing granulomatous lesions and ulcerated lesions covered with punctiform white secretion observed during endoscopic examination in a patient with chronic multifocal paracoccidioidomycosis.", "modalities": ["endoscopy"]}], "diagnosis": "Chronic Multifocal Paracoccidioidomycosis", "standardized_diagnosis": [{"original_term": "Chronic multifocal paracoccidioidomycosis", "corrected_term": null, "code": "1F2E.Z", "title": "Paracoccidioidomycosis", "chapter": "Certain infectious or parasitic diseases", "primary": true}]}, "year": 2020, "classification": "Infectious and immunologic disorders"}
+{"pmid": "33187546", "patient_info": {"basic_info": "A 15-year-old Caucasian male with a history of acne vulgaris during puberty presented with severe acne and low back pain with inability to walk. Three months before admission, he developed a dramatic worsening of acne. He was treated with systemic isotretinoin therapy at 0.5 mg/kg/daily for 10 weeks without benefit. During this time, he also developed depressive symptoms associated with insomnia and irritability, for which sertraline therapy was started. Ten weeks after starting isotretinoin, the patient experienced increasing low-back pain with progressive inability to walk and restriction of daily activities. At admission, he was suffering and unable to walk. Physical examination revealed decreased axial range of movement and sacroiliac pain. HLA-B27 testing was negative.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/33187546/fig/1.jpg"], "caption": "(A) MRI STIR sequences of the lumbar spine and sacroiliac joints performed prior to adalimumab treatment. (B) MRI STIR sequences of the lumbar spine and sacroiliac joints performed after twelve months of therapy.", "detailed_caption": "Figure 1 consists of magnetic resonance imaging (MRI) STIR sequences demonstrating lumbar and sacroiliac involvement in a patient with SAPHO syndrome; specifically, the images show bone marrow oedema and osteitis of the transverse process of the fifth lumbar vertebra as well as symmetrical sacroiliitis prior to adalimumab treatment (upper images) and resolution of these findings after twelve months of therapy (lower images).", "modalities": ["mri"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/33187546/fig/2.jpg"], "caption": "(upside) Clinical photographs of the face, back, and sternal region, standard view, prior to adalimumab treatment. (downside) Clinical photographs of the face, back, and sternal region, standard view, following adalimumab treatment.", "detailed_caption": "Figure 2 presents clinical photographs of cutaneous lesions on the face, back, and sternal region before and after treatment with adalimumab; the upper row shows pre-treatment lesions and the lower row shows post-treatment outcomes, with each anatomical site (face, back, sternal region) represented accordingly. These images document the dermatological manifestations of SAPHO syndrome, specifically severe acne and hidradenitis suppurativa, using gross clinical photography at standard view and ambient lighting, captured at unspecified time points prior to and following adalimumab administration.", "modalities": ["clinical"]}], "diagnosis": "SAPHO syndrome (synovitis, acne, pustolosis, hyperostosis and osteitis syndrome)", "standardized_diagnosis": [{"original_term": "SAPHO syndrome", "corrected_term": null, "code": "4A61", "title": "SAPHO syndrome", "chapter": "Diseases of the immune system", "primary": true}]}, "year": 2020, "classification": "Orthopedic and connective tissue disorders"}
+{"pmid": "33049924", "patient_info": {"basic_info": "87-year-old woman living in a nursing home admitted to the emergency department with abdominal pain, cough, and high-grade fever starting four days prior to hospital admission. Past medical history included polymyalgia rheumatica, giant cell arteritis, and slight cognitive impairment. No previous history of abdominal surgery or gastrointestinal symptoms. No reported contact with people at high-risk for SARS-CoV-2 infection, but nasopharyngeal swab PCR tested positive for SARS-CoV-2. On admission: blood pressure 100/60 mmHg, pulse 100 bpm rhythmic, SatO₂ 95% in ambient air and 97% in O₂ at 40%. Physical examination showed reduction of murmur to the pulmonary bases bilaterally, distended abdomen that was diffusely tender and positive for Blumberg's sign, bowel sounds not audible, and rectal examination revealed rectorrhagia. Laboratory results: white blood cell count 5990 cells/mm³, hemoglobin 15 g/dL, platelet count 233.000 10⁹/L, C-reactive protein 290 mg/dL, INR 1.22, aPTT 29.2 s, fibrinogen 790 mg/dL, D-Dimer 2.1 mg/LFEU, fecal calprotectin 290 mg/kg. Renal, liver, and pancreatic function tests were within normal range. Patient experienced rapid deterioration with development of septic shock.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/33049924/fig/1.jpg"], "caption": "CT of the rectum, axial and coronal views.", "detailed_caption": "Axial and coronal CT images show wall thickening of the lower-third of the rectum, surrounded by extraluminal free air, findings suggestive of rectal perforation", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/33049924/fig/2.jpg"], "caption": "CT of the pelvis, axial and coronal views.", "detailed_caption": "Axial and coronal CT images show perivisceral fat stranding and thickening of the mesorectal fascia", "modalities": ["ct"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/33049924/fig/3.jpg"], "caption": "CT of the chest, axial view.", "detailed_caption": "Axial CT image shows ground-glass opacity superimposed by interlobular and intralobular septal thickening, consistent with typical imaging features of COVID-19 interstitial pneumonia with patchy bilateral ground-glass opacities", "modalities": ["ct"]}], "diagnosis": "Spontaneous rectal perforation in a patient with SARS-CoV-2 infection", "standardized_diagnosis": [{"original_term": "SARS-CoV-2 infection", "corrected_term": null, "code": "RA01.0", "title": "SARS-CoV-2 disease", "chapter": "Codes for special purposes", "primary": false}, {"original_term": "Rectal perforation", "corrected_term": null, "code": "NB91.9Y", "title": "Traumatic rectal perforation", "chapter": "Injury, poisoning or certain other consequences of external causes", "primary": true}]}, "year": 2020, "classification": "Gastrointestinal disorders"}
+{"pmid": "33117870", "patient_info": {"basic_info": "A 64-year-old male patient from Smoljanci, Istria presented with firm, migrating nodules in the brachial region without history of serious disease. He had no travel outside Croatia but spent recreational time in forests and islands near his residence and owned a pet dog. Physical examination revealed a painless, well-demarcated subcutaneous nodule in his right upper arm measuring 1.5 × 1.5 × 1.0 cm. Ultrasonographic findings of the nodule appeared normal. Laboratory tests showed total blood counts, erythrocyte sedimentation rate and C-reactive protein within normal values. Serologic results for trichinosis, toxocariasis, schistosomiasis, distomatosis and cysticercosis were negative.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/33117870/fig/1.jpg"], "caption": "Histological cross-section, H&E staining.", "detailed_caption": "Hematoxylin and eosin-stained histological cross-section shows typical features of Dirofilaria repens including external longitudinal ridges, thick cuticula, well-developed musculature and internal structure", "modalities": ["pathology"]}], "diagnosis": "Dirofilaria repens infection", "standardized_diagnosis": [{"original_term": "Dirofilaria repens infection", "corrected_term": null, "code": "1F66.Z", "title": "infection by dirofilaria", "chapter": "Certain infectious or parasitic diseases", "primary": true}]}, "year": 2020, "classification": "Infectious and immunologic disorders"}
+{"pmid": "33704941", "patient_info": {"basic_info": "19-year-old man presented with acute onset of shock, multiple organ failure, and rash. Had been well until 20 hours before admission when developed diffuse abdominal pain and nausea after eating restaurant leftovers. Symptoms progressed to include multiple episodes of vomiting (bilious or red-brown), chills, generalized weakness, diffuse myalgias (rated 8/10), chest pain, shortness of breath, headache, neck stiffness, and blurry vision. History of anxiety, depression, and intermittent childhood ear infections. Social history: smokes 2 packs cigarettes weekly, daily marijuana use, drinks alcohol 2x/week, recreational use of dextromethorphan and diphenhydramine. Lives in northern New England, had been staying with friend for 5 days, visited beach and music venue. Works part-time at restaurant. Family history: father with coronary artery disease, mother with hypothyroidism, brother had viral meningitis at 6 weeks.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/33704941/tab/1.jpg"], "caption": "Laboratory results on admission and peripheral blood smear.", "detailed_caption": "Laboratory results on admission showing hemoconcentration (hematocrit 48.8%, hemoglobin 16.4 g/dl), severe thrombocytopenia (platelet count 12,000/μl), profound coagulopathy (PT 69.9 sec, INR 7.9, aPTT >150 sec), undetectable fibrinogen (<60 mg/dl), severe lactic acidosis (9.4 mmol/L), acute kidney injury (creatinine 2.31 mg/dl), hypoproteinemia (total protein 2.7 g/dl, albumin 1.6 g/dl), elevated bilirubin (2.5 mg/dl), markedly elevated D-dimer (>10,000 ng/ml), severely depressed anticoagulant proteins (protein C activity 5%, protein S activity 25%, antithrombin III activity 28%), positive lupus anticoagulant, severe metabolic acidosis (pH 7.17), and blood smear showing toxic granulation, Döhle bodies, vacuolated neutrophils, and burr cells.", "modalities": ["lab", "pathology"]}, {"type": "fig", "id": 1, "subfig": null, "path": ["images/33704941/fig/2.jpg"], "caption": "Clinical photographs of chest, abdomen, arms, and legs.", "detailed_caption": "Clinical photographs showing rapidly evolving diffuse reticular purpuric rash on chest, abdomen, arms, and legs, sparing palms and soles, consistent with purpura fulminans pattern.", "modalities": ["clinical"]}], "diagnosis": "Meningococcal purpura fulminans", "standardized_diagnosis": [{"original_term": "Meningococcal infection", "corrected_term": null, "code": "1C1C.Z", "title": "Meningococcal infection", "chapter": "Certain infectious or parasitic diseases", "primary": false}, {"original_term": "Purpura fulminans", "corrected_term": null, "code": "3B20", "title": "Purpura fulminans", "chapter": "Diseases of the skin", "primary": true}]}, "year": 2021, "classification": "Infectious and immunologic disorders"}
+{"pmid": "33576325", "patient_info": {"basic_info": "A 63-year-old man presented with a 6-month history of dry cough and fatigue. He was previously healthy except for a 20-year history of asthma. One year prior to presentation, he had worked as a miner for 6 months in Mexico. He did not exhibit fever, headache, or night sweats. Laboratory tests showed decreased levels of total protein (60.6 g/L), albumin (33.6 g/L), and alkaline phosphatase (33 IU/L), with other routine laboratory examinations being normal. Serum galactomannan (GM) and 1,3-beta-D-glucan (G) assays were negative. Mycobacterium tuberculosis culture results were negative.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/33576325/fig/1.jpg"], "caption": "(A) Chest CT, lung window. (B) Chest CT, soft tissue window.", "detailed_caption": "Chest computed tomography (CT) scans showed a 1.4 × 1.3 × 1.1 cm solitary solid nodule with a smooth margin in the right lower lobe and multiple small 0.1- to 0.2-cm nodules with mild ground-glass opacity in the bilateral lungs. CT images of the lung window (A) and soft tissue window (B)", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/33576325/fig/2.jpg"], "caption": "(A) Biopsy tissue, PAS staining. (B) Biopsy tissue, GMS staining.", "detailed_caption": "Histological examination of biopsy tissue from thoracoscopic right lower lobectomy revealed multiple granulomas with caseous necrosis, with scattered thick-walled spherules containing endospores observed following PAS and GMS staining. PAS staining (A) and GMS staining (B)", "modalities": ["pathology"]}], "diagnosis": "Pulmonary coccidioidomycosis", "standardized_diagnosis": [{"original_term": "Pulmonary coccidioidomycosis", "corrected_term": null, "code": "1F25.0", "title": "Pulmonary coccidioidomycosis", "chapter": "Certain infectious or parasitic diseases", "primary": true}]}, "year": 2021, "classification": "Infectious and immunologic disorders"}
+{"pmid": "32962122", "patient_info": {"basic_info": "41-year-old male with unremarkable previous medical history except type 2 diabetes mellitus diagnosed 5 years prior. Presented with leukocytosis. No hepatosplenomegaly on physical examination.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/32962122/fig/1.jpg"], "caption": "(A–C) Peripheral blood smear. (D–F) Bone marrow smear.", "detailed_caption": "Peripheral blood (PB) and bone marrow (BM) smears of patient 1. Panels a-b-c: the PB shows hyperleukocytosis with neutrophil precursors (promyelocytes, myelocytes, and metamyelocytes) representing ≥ 10% of the leukocytes, with monocytes < 10% and rare blasts. The neutrophils show pseudo-Pelger-Huet nuclear abnormalities and hypogranulated cytoplasm. Panels d-e-f: the BM is hypercellular due to an increase of neutrophils and their precursors. The myeloid/erithroid ratio is > 10:1 due to myeloid hyperplasia. Of note, the myeloid lineage shows evident signs of dysplasia similar to those present in the PB. Moreover, the megakaryocytes show signs of dysplasia with micro-megakaryocyte and cells with hypolobated nuclei.", "modalities": ["pathology"]}, {"type": "tab", "id": 1, "subfig": "Column: Clinical Case 1", "path": ["images/32962122/tab/2.jpg"], "caption": "Laboratory results, peripheral blood counts and differential, bone marrow blast percentage, genetic analysis including next generation sequencing, and karyotype analysis.", "detailed_caption": "41-year-old patient with WBC 32.12 × 10^9/L, differential showing hypogranulated neutrophils 46%, band-cells 12%, eosinophils 2%, monocytes 6%, lymphocytes 14%, promyelocytes 2%, metamyelocytes 12%, myelocytes 6%. Hemoglobin 13.5 g/dL, platelets 103 × 10^9/L, bone marrow blasts 2%. Screening for JAK2, CALR, MPL mutations and BCR/ABL were negative. Next generation sequencing revealed TET2 p.Q635* (VAF 37.09%), TET2 p.C1221Y (VAF 42.23%), and EZH2 p.R690H (VAF 82.89%). ETNK1 mutations screening was negative. Normal karyotype 46, XY (20).", "modalities": ["lab", "genetic"]}], "diagnosis": "Atypical chronic myeloid leukemia (aCML)", "standardized_diagnosis": [{"original_term": "Atypical chronic myeloid leukemia", "corrected_term": null, "code": "2A41", "title": "atypical chronic myeloid leukaemia", "chapter": "Neoplasms", "primary": true}]}, "year": 2020, "classification": "Neoplastic diseases"}
+{"pmid": "33063535", "patient_info": {"basic_info": "36-year-old female patient, never smoker, admitted with chronic cough, expectoration, chest tightness and wheezing. Chronic sinusitis since age 12, started experiencing cough and purulent sputum at age 20 with progressive worsening, exertional dyspnea and constant wheezing. At age 25, underwent thoracotomy drainage and biopsy for empyema and pleural effusion. Physical examination revealed diffuse expiratory wheezes and coarse crackles in both lungs. Blood gas analysis showed hypoxemia with PaO2 of 62 mmHg and oxygenation index of 155 mmHg. No obvious abnormalities in routine blood tests, procalcitonin, sputum smear microscopy, sputum culture, tuberculosis bacili gamma interferon release test, rheumatoid factors, humoral immunity, connective tissue related antibodies, anti-neutrophil cytoplasmic antibody. Cold agglutinin level was in normal range.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/33063535/tab/1.jpg"], "caption": "Pulmonary function test at first admission.", "detailed_caption": "Pulmonary function test showed FEV1/FVC ratio of 43.39% at first admission", "modalities": []}, {"type": "fig", "id": 1, "subfig": "A", "path": ["images/33063535/fig/2.jpg"], "caption": "Chest HRCT scan.", "detailed_caption": "Chest HRCT scan showed well-defined multiple centrilobular nodules and diffuse tree-in-bud pattern", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": "A, B", "path": ["images/33063535/fig/3.jpg"], "caption": "CT of the paranasal sinuses.", "detailed_caption": "Paranasal sinus CT showed bilateral maxillary sinus inflammation", "modalities": ["ct"]}, {"type": "tab", "id": 2, "subfig": "Row: Case 1", "path": ["images/33063535/tab/4.jpg"], "caption": "HLA genotyping.", "detailed_caption": "HLA genotyping showed patient was positive for HLA-A24:02:01 (homozygous) and HLA-B13:01/40:01, with 25 years history of sinusitis", "modalities": ["genetic"]}], "diagnosis": "Diffuse panbronchiolitis", "standardized_diagnosis": [{"original_term": "Diffuse panbronchiolitis", "corrected_term": null, "code": "CA26.1", "title": "Diffuse panbronchiolitis", "chapter": "Diseases of the respiratory system", "primary": true}]}, "year": 2020, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "33073026", "patient_info": {"basic_info": "7-day-old female newborn born at full-term to a G1P1 mother with birth weight of 4,380 gm. Parents denied poor feeding, poor activity, or weak crying. On examination at Day 7, she had normal muscle power, normal reflex, no macroglossia, but slightly decreased facial folds. Newborn screening for Pompe disease showed GAA activity 0.18 uM/h (critical cutoff <0.5) and ratio 42.87 (critical cutoff acid β-glucosidase/GAA ≥20). Laboratory examination revealed elevated pro-BNP (8,738 pg/mL), CK (722 U/L), and ALT (112 U/L). Confirmatory testing showed deficient lymphocyte GAA activity (1.33 nmol/g pro/hr, normal mean 66.7). Patient did not have the common CRIM-positive Taiwan Pompe disease p.D645E variant. Mutation analysis revealed heterozygous c.2024_2026del (p.N675del) and c.2040+1G>T variants in trans.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/33073026/fig/1.jpg"], "caption": "Chest X-ray performed on day 7.", "detailed_caption": "Chest X-ray at Day 7 shows mild cardiomegaly", "modalities": ["x-ray"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/33073026/fig/2.jpg"], "caption": "Western blot analysis of blood lymphocytes detecting GAA and α-tubulin.", "detailed_caption": "Western Blot analysis of blood GAA showing 110 kDa precursor GAA band, indicating CRIM-positive status. Blood lymphocytes were sonicated and blotted with antibodies to detect human GAA and α-tubulin protein presence", "modalities": ["lab"]}], "diagnosis": "Infantile-onset Pompe disease (IOPD)", "standardized_diagnosis": [{"original_term": "Infantile-onset Pompe disease", "corrected_term": null, "code": "5C51.3", "title": "Infantile Pompe disease", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": true}]}, "year": 2020, "classification": "Genetic and congenital disorders"}
+{"pmid": "32370734", "patient_info": {"basic_info": "A 36-year-old Chinese man presented with a 1-month history of persistent fever. He was previously healthy with no significant past medical history, specifically no prior TB infections, chronic illnesses, liver or kidney disease, transfusions, malignancy, or immune diseases. He was not taking any regular prescription medications and had not travelled abroad. On admission, vital signs showed temperature 37.2°C, heart rate 119 beats/min, blood pressure 90/48 mmHg, respiration rate 38 breaths/min with oxygen saturation 88%. Physical examination revealed an acutely ill appearance and pulmonary rales in both lungs. He presented with persistent fever, pancytopenia, and hyperferritinemia with clinical deterioration including acute respiratory failure.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/32370734/fig/1.jpg"], "caption": "CT of the chest.", "detailed_caption": "Chest CT showing diffuse infiltrates in both lungs with possible cavitation in the left upper lobe, and mediastinal and hilar lymph node enlargement", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/32370734/fig/2.jpg"], "caption": "CT of the abdomen, liver.", "detailed_caption": "Abdominal CT showing multiple focal lesions in the liver without hepatosplenomegaly", "modalities": ["ct"]}, {"type": "tab", "id": 1, "subfig": null, "path": ["images/32370734/tab/3.jpg"], "caption": "Laboratory results on day 1. Arterial blood gas analysis on day 1. Pre-treatment laboratory results. Coagulation tests.", "detailed_caption": "Laboratory results on day 1 showed WBC count 1.25 × 10^9/L, hemoglobin 78 g/L, platelet count 41 × 10^9/L, fibrinogen 1.79 g/L, and ferritin 375,554 ng/ml. Additional pre-treatment lab values included AST 121 U/L, ALT 47 U/L, total bilirubin 48.4 μmol/L, direct bilirubin 40.9 μmol/L, BUN 11.35 mmol/L, creatinine 106.0 μmol/L, LDH 508 U/L, serum ferritin 17,208.98 ng/ml. Coagulation tests showed PT 16.9 s, PTA 62%, fibrinogen 1.74 g/L. Arterial blood gas analysis revealed pH 7.45, PO2 57 mmHg, PCO2 35 mmHg, lactate 2.0 mmol/L", "modalities": ["lab"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/32370734/fig/4.jpg"], "caption": "Bone marrow aspiration on day 4. (A), red cells (B) and neutrophil (C) engulfed by macrophages", "detailed_caption": "Bone marrow aspiration on day 4 revealed increased macrophage activity with hemophagocytosis, showing macrophages (A) with phagocytosed blood cells (B) and cell debris (C)", "modalities": ["pathology"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/32370734/fig/5.jpg"], "caption": "Lung biopsy performed on day 22, acid-fast staining.", "detailed_caption": "Pathological result of lung biopsy performed on day 22 showing positive acid-fast bacilli", "modalities": ["pathology"]}], "diagnosis": "Mycobacterium infection associated hemophagocytic lymphohistiocytosis (HLH)", "standardized_diagnosis": [{"original_term": "Mycobacterium infection", "corrected_term": null, "code": "1B21.Y", "title": "mycobacterial infection, unspecified", "chapter": "Certain infectious or parasitic diseases", "primary": false}, {"original_term": "Hemophagocytic lymphohistiocytosis", "corrected_term": null, "code": "4A01.23", "title": "haemophagocytic lymphohistiocytosis NOS", "chapter": "Diseases of the immune system", "primary": true}]}, "year": 2020, "classification": "Infectious and immunologic disorders"}
+{"pmid": "33620676", "patient_info": {"basic_info": "51-year-old Caucasian male patient with terminal kidney disease presenting with a 10-month history of pruritic papules on sun-exposed areas of extremities. Patient suffered from severe pruritus with impaired sleep. Medical history includes arterial hypertension, hyperuricemia, coronary heart disease, terminal kidney disease due to idiopathic nephropathy, kidney transplants in 1990 and 2001 with rejections in 2000 and 2007, peritoneal dialysis from 2007-2017, ongoing hemodialysis since 2017, and factor V Leiden mutation. No history of habitual UV-light exposure or carcinogen exposure. Medications included felodipine, bisoprolol, clonidine, ramipril, urapidil, cholecalciferol, acetylsalicylic acid, allopurinol, phenprocoumon, thyroxine, iodine, fluvastatin, calcium acetate, omeprazole, and sevelamer carbonate.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/33620676/fig/1.jpg"], "caption": "Clinical photographs of the left arm acquired at multiple time points over a 25-month period.", "detailed_caption": "Figure 1 presents a time series of clinical photographs documenting the left arm of the patient over a 25-month period, illustrating the anatomical site of the upper extremity at various stages of disease progression and treatment. The content consists of sequential clinical photographs that display multiple follicular papules and nodular lesions, some featuring a central hyperkeratotic (horny) plug; one image shows post-surgical sites with isomorphic response (Koebner phenomenon) manifesting as new lesions along suture lines. Subsequent photographs demonstrate changes after local therapy with lapacho tea dressings, with visible amelioration of the lesions. The figure type is a serial set of clinical photographs, with acquisition timing annotated along a horizontal timeline spanning key moments such as first presentation, postsurgical response, disease progression, and initiation of local therapies. No imaging modality or histopathological staining is used; these are gross clinical photos focused on the left arm. The key findings are the appearance and distribution of keratoacanthomatous papules and nodules, the Koebner phenomenon after surgery, and improvement following topical lapacho tea application.", "modalities": ["clinical"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/33620676/fig/2.jpg"], "caption": "(A) Serial clinical photographs of the right upper extremity, macroscopic view, acquired over a 25-month period at initial presentation, progression, and post-treatment intervals.", "detailed_caption": "Figure 2 presents a series of clinical photographs forming a timeline of the right arm over a 25-month period in a patient with Grzybowski’s generalized eruptive keratoacanthomas. The figure documents the anatomical site as the right upper extremity and demonstrates the evolution of numerous scaly and ulcerated papules and nodules. The images show the progression of the lesions without treatment, followed by visible amelioration after initiation of local therapy with topical imiquimod 5% cream. No imaging modality or histological technique is involved; rather, the content type is serial clinical photography. The views are macroscopic, ex vivo photographs with consistent orientation to facilitate clinical monitoring. Acquisition timing is annotated above each photo, corresponding to key points in the patient’s clinical course: initial presentation, progression, and post-treatment intervals.", "modalities": ["clinical"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/33620676/fig/3.jpg"], "caption": "Histopathology of representative fusiform excisions.(A) H&E staining, 2.5× magnification. (B) H&E staining, 10× magnification. (C) H&E staining, 2.5× magnification. (D) H&E staining, 10× magnification.", "detailed_caption": "Histopathology of representative fusiform excisions. Fifteen excised lesions displayed exophytic and endophytic keratinized masses with epidermal hyperplasia featuring pale cells with mild atypia consistent with keratoacanthoma. a H&E ×2.5 original magnification. b H&E ×10 original magnification. Three lesions showed endophytic growth with reteacanthosis, hypergranulosis, and prominent nucleoli consistent with inverted verruca vulgaris/ viral papilloma. c H&E ×2.5 original magnification. d H&E ×10 original magnification", "modalities": ["pathology"]}], "diagnosis": "Grzybowski's generalized eruptive keratoacanthomas (GEKA)", "standardized_diagnosis": [{"original_term": "Grzybowski's generalized eruptive keratoacanthomas", "corrected_term": null, "code": "2C31.1", "title": "Generalised eruptive keratoacanthomas", "chapter": "Neoplasms", "primary": true}]}, "year": 2021, "classification": "Dermatologic and mucosal diseases"}
+{"pmid": "33471980", "patient_info": {"basic_info": "26-year-old pregnant woman at 32 weeks gestation with monochorionic, diamniotic twins. Medical history includes childhood asthma, obesity, anxiety, depression, gestational diabetes mellitus, and polyhydramnios of one fetus. Two previous uncomplicated pregnancies. Three weeks prior to presentation, her children had ear infection and sore throat; patient developed eye erythema with greenish drainage, then nonproductive cough, sore throat, ear pain, and new leg edema. One week before admission, developed progressive right leg pain. Physical examination at first hospital showed temperature 37.0°C, pulse 113 bpm, blood pressure 90/50 mmHg, pitting leg edema without erythema or warmth. Five days later developed left leg tenderness with worsening bilateral edema, severe coughing episodes, temperature 36.9°C, pulse 110 bpm, blood pressure 96/51 mmHg, oxygen saturation 98% on room air, and expiratory wheezes on lung auscultation. Subsequently developed sudden severe crushing chest pain, became unresponsive and pulseless with monomorphic ventricular tachycardia at 178 bpm with right bundle-branch block pattern and superior axis, leading to cardiac arrest.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/33471980/tab/1.jpg"], "caption": "Laboratory results. Blood gas analysis.", "detailed_caption": "Laboratory results show progressive changes including hemoglobin drop from 10.9 to 9.6 g/dl, white cell count increase from 8920 to 19,500 per μl with neutrophilia, low albumin (1.9-1.6 g/dl), elevated troponin T (28.32 ng/ml), markedly elevated creatine kinase (11,012 U/liter), and creatine kinase MB (552.0 U/liter). Blood gases show pH 7.31 with oxygen saturation maintained.", "modalities": ["lab"]}, {"type": "fig", "id": 1, "subfig": null, "path": ["images/33471980/fig/2.jpg"], "caption": "(A) Contrast-enhanced coronal CT in the pulmonary angiographic phase, chest. (B) Contrast-enhanced axial CT in the pulmonary angiographic phase, chest. (C) Chest radiograph obtained at the time of transfer to this hospital.", "detailed_caption": "A contrast‑enhanced coronal CT image in the pulmonary angiographic phase (Panel A) shows bilateral patchy ground‑glass opacities with interlobular septal thickening compatible with pulmonary edema. A contrast‑enhanced axial CT image in the pulmonary angiographic phase (Panel B) shows cardiomegaly with biventricular enlargement and small bilateral pleural effusions with associated relaxation atelectasis in the lower lobes (arrows). A chest radiograph obtained at the time of transfer to this hospital (Panel C) shows interstitial pulmonary edema, cardiomegaly, a trace left pleural effusion, and left basilar atelectasis. The venous extracorporeal membrane oxygenation (ECMO) inflow cannula and the tip of a central venous catheter are visible in the right atrium, and an endotracheal tube and enteric tubes are in appropriate positions.", "modalities": ["ct", "angiography", "x-ray"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/33471980/fig/3.jpg"], "caption": "(A) Electrocardiogram. (B) Transthoracic echocardiography, left ventricular ejection fraction 11%, estimated pulmonary-artery systolic pressure 53 mmHg.", "detailed_caption": "Electrocardiogram(A) shows normal sinus rhythm, right bundle-branch block, borderline-low QRS voltage, and Q waves with T-wave inversions in anterior and lateral leads. Transthoracic echocardiography(B) reveals dilated left ventricular cavity with severe diffuse hypokinesis (ejection fraction 11%), moderate mitral and tricuspid regurgitation, moderate right ventricular dysfunction and dilatation, estimated pulmonary-artery systolic pressure 53 mmHg, small pericardial effusion, and pleural effusion.", "modalities": ["electrophysiology", "ultrasound"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/33471980/fig/4.jpg"], "caption": "Coronary angiography of the coronary arteries.", "detailed_caption": "Coronary angiography shows proximal left anterior descending artery and proximal left circumflex artery are smaller in caliber than distal portions, suggesting possible spontaneous coronary-artery dissection in left main coronary artery.", "modalities": ["angiography"]}], "diagnosis": "Pregnancy-associated myocardial infarction, probably due to spontaneous coronary-artery dissection", "standardized_diagnosis": [{"original_term": "Pregnancy-associated myocardial infarction", "corrected_term": null, "code": "BA41.Z", "title": "myocardial infarct NOS", "chapter": "Diseases of the circulatory system", "primary": true}, {"original_term": "Spontaneous coronary artery dissection", "corrected_term": null, "code": "BA82", "title": "spontaneous coronary artery dissection", "chapter": "Diseases of the circulatory system", "primary": false}]}, "year": 2021, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "33503346", "patient_info": {"basic_info": "A 48-year-old man from Eurasia who had lived in the United States for 20 years presented with transient vision loss. One hour before evaluation, he noticed white 'sparkles' flickering in the left eye vision, followed by sudden blurriness that worsened over 2 minutes to complete darkness in the left eye. On presentation, vision was improving but remained blurry. Vital signs: temperature 36.7°C, blood pressure 120/65 mmHg, heart rate 92 bpm, BMI 24.2. Visual acuity was 20/20 in right eye and limited to hand motions at 0.9m in left eye (improved to 20/40 distance, 20/30 near with correction 2 hours later). Physical examination revealed severe ptosis of left upper eyelid (margin reflex distance 4mm right, 1mm left), nontender irregular mass palpable under left superior orbital rim without proptosis, and prominent temporal arteries bilaterally (more on right). Review of systems notable for fatigue, 4.5kg weight loss over past year, 2-month history of bilateral jaw pain with chewing firm foods, bilateral lateral hip soreness after walking, sensation of locking when flexing/extending right first finger, and temporal headache on right side 2 days prior that resolved. Past medical history significant only for presbyopia. Social history: formerly smoked half pack for 5 years but quit 20 years ago, rare alcohol use, university professor with international travel.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/33503346/tab/1.jpg"], "caption": "Laboratory results on admission.", "detailed_caption": "Laboratory results on admission showed normocytic anemia (hemoglobin 11.6 g/dl, hematocrit 35.0%), elevated erythrocyte sedimentation rate (53 mm/hr), elevated C-reactive protein (11.8 mg/liter), significantly elevated liver enzymes (alanine aminotransferase 245 U/liter, aspartate aminotransferase 154 U/liter, alkaline phosphatase 1924 U/liter), elevated total bilirubin (2.8 mg/dl), and elevated total cholesterol (280 mg/dl). White cell count and differential were normal.", "modalities": ["lab"]}, {"type": "fig", "id": 1, "subfig": null, "path": ["images/33503346/fig/2.jpg"], "caption": "(A) MRI of the head and orbits, coronal short-tau inversion recovery sequence. (B) MRI of the head and orbits, coronal T1-weighted fat-saturated sequence with intravenous gadolinium. (C) MRI of the orbits, axial three-dimensional fast spoiled gradient echo sequence with intravenous gadolinium. (D, E) CT of the abdomen and pelvis, axial and coronal images with intravenous contrast. (F) CT of the abdomen, axial image with intravenous contrast.", "detailed_caption": "MRI of the head and orbits was performed. A coronal short-tau inversion recovery image (Panel A) and a coronal T1-weighted fat-saturated image obtained after the administration of intravenous gadolinium (Panel B) show enlargement of the right medial rectus muscle (arrows), which is associated with marked T2-hypointense signal (Panel A) but shows enhancement similar to that of the other extraocular muscles (Panel B). Mild enhancement and fat stranding are present in the adjacent extraconal fat. An axial three-dimensional fast spoiled gradient echo image (Panel C), obtained after the administration of intravenous gadolinium, shows an enhancing masslike lesion (arrow) in the left anterior superior orbit, abutting the left lacrimal gland. CT of abdomen and pelvis was also performed. Axial and coronal images (Panels D and E, respectively), obtained after the administration of intravenous contrast material, show diffuse coalescent mesenteric and retroperitoneal lymphadenopathy (Panel D, arrows). An additional axial image (Panel F) shows geographic areas of heterogeneous hypoattenuation in the right lobe of the liver. Multiple small calcifications of varying shapes and sizes are shown throughout the liver (Panels E and F, arrows). In addition, coarse calcifications are shown within some of the mesenteric and retroperitoneal lymph nodes (Panels D and E, arrowheads).", "modalities": ["mri", "ct"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/33503346/fig/3.jpg"], "caption": "(A) Hematoxylin and eosin staining of retroperitoneal lymph node biopsy. (B) Congo red staining of retroperitoneal lymph node biopsy, polarized light. (C) Hematoxylin and eosin staining of liver biopsy. (D) Congo red staining of liver biopsy, polarized light. (E) Hematoxylin and eosin staining of liver biopsy, higher magnification. (F) Immunohistochemical staining for kappa light chains in liver biopsy. (G) Immunohistochemical staining for lambda light chains in liver biopsy.", "detailed_caption": "Hematoxylin and eosin staining of a biopsy specimen of a retroperitoneal lymph node (Panel A) shows fragments of fibroadipose tissue with calcifications and acellular eosinophilic deposits (arrows), with associated reactive osseous metaplasia (left arrowhead) and scattered multinucleated giant cells (right arrowhead). On Congo red staining (Panel B), the eosinophilic deposits show apple-green birefringence under polarized light, a feature characteristic of amyloid. Hematoxylin and eosin staining of a biopsy specimen of the liver (Panel C) shows portal-based, well-delineated nodules of eosinophilic deposits (arrows); the deposits within the dashed outline show apple-green birefringence under polarized light on Congo red staining (Panel D). At higher magnification (Panel E), there is a focal dense cluster of plasma cells adjacent to the amyloid deposits in the liver parenchyma. On immunohistochemical staining for kappa and lambda light chains (Panels F and G, respectively), the plasma cells show kappa restriction.", "modalities": ["pathology"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/33503346/fig/4.jpg"], "caption": "(A) Bone marrow core biopsy, H&E staining. (B) Bone marrow core biopsy, H&E staining, higher magnification. (C) Bone marrow core biopsy, kappa light-chain mRNA in situ hybridization. (D) Bone marrow core biopsy, lambda light-chain mRNA in situ hybridization. (E) Bone marrow aspirate smear, Wright–Giemsa staining, plasma cells: 8.5%. (F) Bone marrow aspirate, flow cytometry, fluorescence intensity for cytoplasmic kappa and lambda light chains.", "detailed_caption": "Hematoxylin and eosin staining of a core biopsy specimen of the bone marrow (Panel A) shows mildly hypocellular marrow for the patient’s age with maturing trilineage hematopoiesis. At higher magnification (Panel B), scattered and clustered plasma cells are present. On kappa and lambda light-chain mRNA in situ hybridization (Panels C and D, respectively), the plasma cells show kappa restriction. On Wright–Giemsa staining of a smear of bone marrow aspirate (Panel E), the mature plasma cells (arrows) account for 8.5% of the marrow cellularity on a differential count. On flow cytometry of the aspirate (Panel F), the vertical and horizontal axes show fluorescence intensity measurements for cytoplasmic kappa and lambda light chains, respectively. There is a predominance of clonal kappa-positive plasma cells (K+ PC), as indicated by red dots, with very few lambda-positive plasma cells (L+ PC), as indicated by blue dots; purple and green dots indicate non–plasma cell populations.", "modalities": ["pathology", "lab"]}], "diagnosis": "Systemic primary amyloidosis", "standardized_diagnosis": [{"original_term": "Systemic primary amyloidosis", "corrected_term": null, "code": "5D00.Y", "title": "Primary systemic amyloidosis affecting skin or oral cavity", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": true}]}, "year": 2021, "classification": "Endocrine and metabolic disorders"}
+{"pmid": "33730458", "patient_info": {"basic_info": "A 34-year-old woman presented with acute abdominal and back pain 3 years before evaluation at the oncology clinic. She had been well until this onset. Her medical history was notable for migraines. She did not smoke cigarettes, drink alcohol, or use illicit drugs. She worked full time as a social worker and lived in New Jersey with her husband and child. Family history included breast cancer in maternal grandmother (70s), uterine cancer in paternal aunt (40s), and colon cancer in two paternal cousins (30s and 50s). On physical examination: temperature 36.5°C, blood pressure 108/78 mm Hg, heart rate 78 beats per minute, body-mass index 27.7. The abdomen had well-healed surgical scars; remainder of physical examination was normal. Laboratory results showed elevated tumor marker CA 19-9 at 110 IU per milliliter (reference <35), while alpha-fetoprotein and carcinoembryonic antigen levels were normal.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/33730458/fig/1.jpg"], "caption": "(A) MRI of the liver, right hepatic lobe. (B) Coronal T2-weighted MRI of the liver. (C) Axial diffusion-weighted MRI of the liver. (D) MRI of the liver, arterial phase, following gadoxetate disodium administration. (E) MRI of the liver, portal venous phase. (F) MRI of the liver, delayed phase.", "detailed_caption": "A lobulated hypoenhancing mass (Panel A, arrows) is seen in the right hepatic lobe. Although this finding is not specific for a single cause, the characteristics of the mass are atypical of common benign lesions found in this patient’s age group such as hemangiomas, focal nodular hyperplasia, and hepatic adenoma. Peripheral biliary dilatation (Panel B, arrowheads) seen on a coronal T2-weighted image suggests obstruction of the central bile duct related to the mass. Such a finding more commonly results from cholangiocarcinoma than from other malignant conditions, such as hepatocellular carcinoma or metastases. On an axial diffusion-weighted image, the mass shows marked restricted diffusion (Panel C, arrows). The periphery of the tumor shows the brightest signal, leading to a targetoid appearance, a finding often seen with cholangiocarcinoma. Restricted diffusion is typically seen in areas of high tissue density such as malignant tumors or abscesses. On an arterial phase image obtained after the administration of contrast material (gadoxetate disodium), areas of peripheral rim enhancement (Panel D, arrowheads) reflect well-vascularized areas of the periphery of the tumor, a finding that is typical of cholangiocarcinoma. It is important to distinguish this pattern of enhancement from discontinuous peripheral nodular arterial enhancement, which is typical of a hemangioma, a more common liver lesion that is benign. Gradual enhancement of the more central components of the tumor (Panel E, arrows) is seen during the portal venous phase. This finding reflects the diminished central vascularity of the tumor that is typical of cholangiocarcinoma and would be unusual with hepatocellular carcinoma. Further enhancement of the center of the tumor (Panel F, arrows) can be seen on an image obtained during the delayed phase, again reflecting a paucity of vascularity. Washout of contrast material did not occur owing to the presence of extensive fibrosis, which retains contrast material within the expanded extracellular space — a typical finding of cholangiocarcinoma. Fibrosis typically causes hepatic capsular retraction, but this feature is not seen in this case because of the central location of the tumor.", "modalities": ["mri"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/33730458/fig/2.jpg"], "caption": "(A) H&E staining of liver tissue, unspecified magnification. (B) H&E staining of liver tissue, higher magnification.", "detailed_caption": "Hematoxylin and eosin staining shows a poorly differentiated adenocarcinoma and adjacent liver tissue (Panel A, right upper region). At this magnification, no gland formation is visible. At higher magnification, the tumor cells are found to be organized in a cholangiolar pattern that resembles antlers (Panel B, arrow). Abundant desmoplastic stroma is also present.", "modalities": ["pathology"]}], "diagnosis": "Intrahepatic cholangiocarcinoma", "standardized_diagnosis": [{"original_term": "Intrahepatic cholangiocarcinoma", "corrected_term": null, "code": "2C12.10", "title": "Intrahepatic cholangiocarcinoma", "chapter": "Diseases of the digestive system", "primary": true}]}, "year": 2021, "classification": "Neoplastic diseases"}
+{"pmid": "34078430", "patient_info": {"basic_info": "Three-month-old Caucasian male infant, second child of healthy non-consanguineous parents. Born by spontaneous delivery after normal pregnancy with no birth-related complications. Apgar scores 8 and 9 at 1 and 5 minutes. Birth weight 2390g (4th centile), length 47cm (12th centile), head circumference 33cm (19th centile). Presented with decreased sweating, dry skin, and absence of hair on scalp. Physical examination revealed scaphocephaly, prominent forehead, forehead bumps, rings under eyes, hypertelorism, epicanthic fold, everted nose, depressed nasal bridge, prominent lips, sparse eyelashes on upper and lower lids, thin pale dry exfoliating skin with widespread eczematous dermatitis especially on scalp, linear wrinkled and hyperpigmented skin around eyes and mouth. Parents reported eye dryness. Neuromotor and mental development index scores of Bayley II scale were normal. Family history for inherited diseases was unremarkable, with normal facial features, hair, teeth, skin and nails in the mother and healthy female sibling.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/34078430/fig/1.jpg"], "caption": "(A) Clinical photograph of the periocular region at initial presentation, three months of age. (B) Clinical photograph of the scalp at initial presentation, three months of age.", "detailed_caption": "Figure 1 consists of clinical photographs illustrating the key dermatological and craniofacial features of X-linked hypohidrotic ectodermal dysplasia in a three-month-old boy at the time of presentation. Subfigure A shows the absence of eyebrows and sparse eyelashes, focusing on periocular skin, while subfigure B displays scaphocephaly, complete absence of scalp hair, and areas of eczematous dermatitis on the scalp. These images provide direct visual documentation of the ectodermal anomalies characteristic of the disorder, captured during initial clinical examination.", "modalities": ["clinical"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/34078430/fig/2.jpg"], "caption": "Genetic analysis (pedigree). Pedigree analysis showed an X- linked pattern of inheritance", "detailed_caption": "Pedigree analysis showing X-linked inheritance pattern with affected male proband, heterozygous carrier mother, and unaffected father and sister", "modalities": ["genetic"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/34078430/fig/3.jpg"], "caption": "Intraoral examination at 24 months.", "detailed_caption": "Intraoral examination at 24 months revealing severe oligodontia with only two conical anterior teeth and a wide midline diastema", "modalities": ["clinical"]}], "diagnosis": "X-linked hypohidrotic ectodermal dysplasia (XLHED) with hemizygous variant c.1142G>C (p.Gly381Ala) in the EDA gene", "standardized_diagnosis": [{"original_term": "X-linked hypohidrotic ectodermal dysplasia", "corrected_term": null, "code": "LD27.02", "title": "X-linked hypohidrotic ectodermal dysplasia", "chapter": "Developmental anomalies", "primary": true}]}, "year": 2021, "classification": "Genetic and congenital disorders"}
+{"pmid": "33406332", "patient_info": {"basic_info": "29-year-old pregnant woman (gravida 5, para 3) at 26 weeks 3 days gestation with undifferentiated connective tissue disease presenting with cough and shortness of breath. Two weeks prior to presentation, she noted gradually increasing exertional dyspnea, 5 days of nonproductive cough, nasal congestion, subjective fevers, and fatigue. She experienced chest tightness, palpitations, and presyncope after carrying laundry up stairs. Medical history notable for undifferentiated connective tissue disease diagnosed 10 months prior with diffuse lymphadenopathy, biopsy-proven leukocytoclastic vasculitis of feet and legs, and intermittent cytopenias. Serologic tests positive for antinuclear antibody titers, anti-Ro (SSA) and anti-La (SSB) antibodies, and low complement levels. Tests negative for anti-dsDNA, anti-Smith, ANCA, antiphospholipid, anticentromere, anti-Scl-70, and anti-RNP antibodies. Previous episode at 10 weeks gestation with shortness of breath, syncope, hemoglobin 6.2 g/dL, platelet count 40,000/mm3, positive direct antiglobulin test, low reticulocyte count, and parvovirus B19 infection. Current medications include hydroxychloroquine 200mg twice daily, prednisone 30mg daily, prenatal vitamins, and aspirin 81mg daily. Smoking history of 2 pack-years, quit 8 years ago. Physical examination: temperature 38°C, BP 106/54 mmHg, HR 122 bpm, RR 22/min, oxygen saturation 94% on room air. Elevated jugular venous pressure with prominent v wave, tachycardia with regular rhythm, splitting of S2, holosystolic murmur at right sternal border, left parasternal heave, tachypnea, increased work of breathing, scattered crackles, gravid nontender abdomen, reticular hyperpigmentation and trace pitting edema of lower legs.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/33406332/fig/1.jpg"], "caption": "(A) Chest X-ray, posteroanterior view. (B) Chest X-ray, lateral view.", "detailed_caption": "Chest X-ray initially read as normal but further review revealed prominence of the right descending pulmonary artery, large left central pulmonary artery with obliteration of the aortopulmonary window, and diminished retrosternal clear space. Panel A is a posteroanterior view, and Panel B a lateral view.", "modalities": ["x-ray"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/33406332/fig/2.jpg"], "caption": "Electrocardiogram.", "detailed_caption": "Electrocardiogram showed sinus tachycardia with right-axis deviation and T-wave inversion in leads II, III, aVF, and V3 to V5, consistent with right heart strain", "modalities": ["electrophysiology"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/33406332/fig/3.jpg"], "caption": "(A,B) CT pulmonary angiography, axial view.", "detailed_caption": "CT pulmonary angiography revealed diffuse, mild tree-in-bud nodularity, ground-glass opacities, and right ventricular enlargement without evidence of pulmonary embolism.Both panels are axial views.", "modalities": ["ct", "angiography"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/33406332/fig/4.jpg"], "caption": "(A) Transthoracic echocardiogram, apical four-chamber view, ejection fraction 75%, estimated right ventricular systolic pressure 74 mmHg, systolic excursion of tricuspid annular plane 17 mm. (B) Transthoracic echocardiogram, parasternal short-axis view.", "detailed_caption": "Transthoracic echocardiogram showed small, hyperdynamic left ventricle with ejection fraction 75%, marked dilation of right ventricle with severely reduced systolic function and septal flattening, severely dilated right atrium, severe tricuspid regurgitation, estimated right ventricular systolic pressure 74 mmHg, systolic excursion of tricuspid annular plane 17mm, and small pericardial effusion. Panel A is an apical four-chamber view, and Panel B a parasternal short-axis view.", "modalities": ["ultrasound"]}], "diagnosis": "Severe connective tissue disease-associated pulmonary arterial hypertension (Group 1.4.1 in the World Symposium on Pulmonary Hypertension classification) with right ventricular failure", "standardized_diagnosis": [{"original_term": "Connective tissue disease", "corrected_term": null, "code": "4A43.3", "title": "Mixed connective tissue disease", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": false}, {"original_term": "Pulmonary arterial hypertension", "corrected_term": null, "code": "BB01.0", "title": "Pulmonary arterial hypertension", "chapter": "Diseases of the circulatory system", "primary": true}, {"original_term": "Right ventricular failure", "corrected_term": null, "code": "BD13", "title": "Right ventricular failure", "chapter": "Diseases of the circulatory system", "primary": false}]}, "year": 2021, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "33826823", "patient_info": {"basic_info": "A 70-year-old man with bipolar disorder presented with depressed mood, suicidal ideation, and progressive gait disturbance. He had a history of bipolar depression with suicide attempts, obsessive-compulsive disorder, and skin picking. Medical history included long-standing urinary incontinence, hypertension, sleep apnea, and prior prostate laser ablation. He had a remote head injury (~20 years prior) with 4-cm laceration from construction beam. Over the past 4 years, he experienced progressive gait instability with multiple falls, cognitive decline, and worsening motor function requiring wheelchair use. On admission, he was wheelchair-bound, well-groomed, oriented, with depressed mood and suicidal ideation. Physical examination showed reduced facial expression, mildly increased tone in lower legs and left arm with bradykinesia, and characteristic gait described as 'slow to start' with 'magnetic quality' then 'shuffling.' Temperature 36.1°C, heart rate 74 bpm, blood pressure 110/61 mmHg, oxygen saturation 97%, BMI 28.5.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/33826823/fig/1.jpg"], "caption": "(A) MRI of the head, axial fluid-attenuated inversion recovery (FLAIR) sequence. (B) MRI of the head, T2-weighted sequence.", "detailed_caption": "Initial MRI head shows old lacunar infarct in left corona radiata, mild scattered hyperintensities suggestive of small-vessel ischemic changes, and mild generalized brain parenchymal volume los. An axial fluid‑attenuated inversion recovery image (Panel A) and a T2‑weighted image (Panel B)", "modalities": ["mri"]}, {"type": "tab", "id": 1, "subfig": null, "path": ["images/33826823/tab/2.jpg"], "caption": "Laboratory results.", "detailed_caption": "Laboratory results show sodium 130-136 mmol/L, potassium 4.4-4.6 mmol/L, normal glucose, creatinine, and other basic metabolic panel values. Valproic acid levels 50.8-66.8 μg/ml (reference 50-100). Thyrotropin elevated at 6.66 μIU/ml then normalized to 3.21 (reference 0.40-5.00). Normal folate, vitamin B12, and glycated hemoglobin. Negative HIV and treponemal antibodies", "modalities": ["lab"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/33826823/fig/3.jpg"], "caption": "(A) Axial T1-weighted MRI of the brain with contrast. (B) Coronal reformatted MRI of the brain with contrast, callosal angle=66°.", "detailed_caption": "An axial T1‑weighted image obtained after the administration of contrast material (Panel A) shows no abnormal enhancement. A coronal reformatted image obtained after the administration of contrast material (Panel B) shows an acute callosal angle of 66 degrees and mild prominence of the sylvian fissures (arrow).", "modalities": ["mri"]}], "diagnosis": "Normal pressure hydrocephalus", "standardized_diagnosis": [{"original_term": "Normal pressure hydrocephalus", "corrected_term": null, "code": "8D64.04", "title": "Normal-pressure hydrocephalus", "chapter": "Diseases of the nervous system", "primary": true}]}, "year": 2021, "classification": "Neurological disorders"}
+{"pmid": "case-13544", "patient_info": {"basic_info": "Sudden clinical deterioration in intensive care unit patient with longstanding pneumonia. The patient had severe chest pain. Lab tests showed signs of infection. Normal ECG. No abdominal pain or vomiting.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case-13544/fig/1.jpg"], "caption": "CT of the chest, contrast-enhanced.", "detailed_caption": "Contrast-enhanced CT of the chest showing pneumococcalastinum around the oesophagus. A large fluid collection with air fluid level is seen transversing the mediastinum. The fluid collection communicates with both pleural cavities.", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/case-13544/fig/2.jpg"], "caption": "CT of the chest with contrast.", "detailed_caption": "Contrast-enhanced CT of the chest showing large fluid collections in the pleural cavities. Air is noted in the pleural cavities.", "modalities": ["ct"]}], "diagnosis": "Spontaneous oesophageal rupture", "standardized_diagnosis": [{"original_term": "Spontaneous oesophageal rupture", "corrected_term": null, "code": "DA20.30", "title": "Spontaneous rupture of oesophagus", "chapter": "Diseases of the digestive system", "primary": true}]}, "year": 1976, "classification": "Gastrointestinal disorders"}
+{"pmid": "33864749", "patient_info": {"basic_info": "A 51-year-old woman presented to the emergency department with a 3-day history of dyspnoea, fatigue, and cough, occurring 11 days after receiving the ChAdOx1 nCoV-19 vaccination. On examination, she was afebrile with peripheral oxygen saturation of 98% (FiO2 21%), blood pressure 150/90 mm Hg, heart rate 98 beats per minute, and BMI 31 kg/m². Laboratory findings showed severe thrombocytopenia (37 × 10⁹ platelets per L, down from 178 × 10⁹ three days prior), elevated D-dimer (>34 mg/dL), and increased C-reactive protein (42 mg/L). Other parameters including prothrombin time, partial thromboplastin time, fibrinogen, creatinine, electrolytes, liver enzymes, and troponin T were within normal range. SARS-CoV-2 RT-PCR was negative.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/33864749/fig/1.jpg"], "caption": "CT pulmonary angiography.", "detailed_caption": "CT pulmonary angiography showed central pulmonary embolism without right ventricular dysfunction", "modalities": ["ct", "angiography"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/33864749/fig/2.jpg"], "caption": "Magnetic resonance venography of the left internal iliac vein, common iliac vein, and inferior vena cava.", "detailed_caption": "Magnetic resonance venography revealed venous thrombus in the left internal iliac vein including the common iliac vein, with extension into the inferior vena cava", "modalities": ["mri"]}], "diagnosis": "Pulmonary embolism and thrombocytopenia following ChAdOx1 vaccination, with multiple thromboses and severe thrombocytopenia", "standardized_diagnosis": [{"original_term": "Pulmonary embolism", "corrected_term": null, "code": "BB00.Z", "title": "pulmonary embolism NOS", "chapter": "Diseases of the circulatory system", "primary": true}, {"original_term": "Thrombocytopenia", "corrected_term": null, "code": "3B64.Z", "title": "Thrombocytopenia", "chapter": "Diseases of the blood or blood-forming organs", "primary": false}, {"original_term": "Multiple thromboses", "corrected_term": null, "code": "6B64", "title": "Multiple personality", "chapter": "Mental, behavioural or neurodevelopmental disorders", "primary": false}, {"original_term": "Severe thrombocytopenia", "corrected_term": null, "code": "1D4E", "title": "Severe fever with thrombocytopenia syndrome", "chapter": "Certain infectious or parasitic diseases", "primary": false}]}, "year": 2021, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "33916211", "patient_info": {"basic_info": "32-year-old female with a 2-year history of cyclical attacks of angioedema, urticaria, and periodic weight gain (up to 10 kg) occurring approximately weekly. Attacks mainly involved the face, arms, and left leg, sometimes associated with mild itching. Edema lasted approximately 3-4 days if not treated. Past and family medical history were negative for angioedema episodes, allergic disorders, autoimmune diseases, and other common eosinophilic diseases. History of rhinitis and chronic sinusitis. Physical examination showed unilateral periorbital edema of the face, normal vital signs, and BMI of 31.9 kg/m².", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/33916211/fig/1.jpg"], "caption": "Noncontrast axial maxillofacial CT scan.", "detailed_caption": "Noncontrast axial maxillofacial computed tomography scan shows the inferior portion of the left maxillary sinus lumen filled with fluid inflammatory material, indicating unilateral maxillary sinusitis with no bony erosion of the sinus wall", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/33916211/fig/2.jpg"], "caption": "(A–C) Upper gastrointestinal endoscopy. (D) Upper gastrointestinal endoscopy, mucosal breaks ≤5 mm in length.", "detailed_caption": "Upper gastrointestinal endoscopy in a patient with episodic angioedema with eosinophilia. The squamocolumnar junction “Z-line” is displaced cranially, which is suggestive of sliding hiatal hernia; incontinence of the cardia is observed (a–c). The presence of nonconfluent mucosal breaks that are ≤5 mm in length (d) revealed mild esophagitis.", "modalities": ["endoscopy"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/33916211/fig/3.jpg"], "caption": "(A) Total body PET/CT scan, cervical, mediastinal, and axillary lymph nodes, maximum diameter 1.3 cm, no FDG uptake. (B) Total body PET/CT scan, inguinal lymph nodes.", "detailed_caption": "Figure 3. Positron Emission Tomography/Computed Tomography (PET/CT) total body scan. The exam revealed multiple cervical, mediastinal, and axillary (yellow arrows) lymphadenopathy (maximum diameter 1.3 cm) in the absence of fluoro-D-glucose (FDG) uptake (a). Reactive lymphadenopathies (yellow arrows) were also detected at the examination of the inguinal regions (b).", "modalities": ["ct", "pet/spect/nuclear"]}, {"type": "tab", "id": 1, "subfig": null, "path": ["images/33916211/tab/4.jpg"], "caption": "Laboratory results. Blood cell immunophenotyping. Upper GI endoscopy with random biopsies. Spirometry. Echocardiography. CT of the chest. Bone marrow biopsy. Genetic tests for BCR/ABL and FIP1L1-PDGFRA mutations.", "detailed_caption": "Laboratory findings show AEC 9.617 g/L (normal 0-0.45), ANC 9.009 g/L (normal 1.8-7), normal immunoglobulins (IgM 2.080 g/L, IgG 9.410 g/L, IgA 1.320 g/L), normal total IgE 30.90 KU/L (<100), normal ESR 10 mm/h and CRP <0.33 mg/dL, negative ANA (0.11), negative ANCA-MPO and PR3-ANCA, normal complement levels (C3 1.28 g/L, C4 0.27 g/L, C1-inhibitor 0.292 g/L, C1q 19 mg/dL). Blood cell immunophenotyping shows CD3 83%, CD4 54%, CD8 14%, CD19 7%, CD56 7%, no aberrant T-cell population. Additional investigations: normal tumor markers, negative parasite tests, negative specific IgE for common allergens, upper GI endoscopy shows mild esophagitis with no eosinophilic infiltrate on random biopsies, normal spirometry and echocardiography, CT chest shows subcentimetric anterior mediastinal lymph nodes and axillary lymphadenopathy, bone marrow biopsy shows increased eosinophilic precursors and mild T-cell infiltrate but no atypical cells, negative genetic tests for BCR/ABL and FIP1L1-PDGFRA mutations", "modalities": ["lab", "endoscopy", "ct", "genetic"]}], "diagnosis": "Episodic Angioedema with Eosinophilia (Gleich's syndrome)", "standardized_diagnosis": [{"original_term": "Episodic angioedema with eosinophilia", "corrected_term": null, "code": "EB03", "title": "Episodic angioedema with eosinophilia", "chapter": "Diseases of the skin", "primary": true}, {"original_term": "Gleich's syndrome", "corrected_term": null, "code": "EB03", "title": "Gleich syndrome", "chapter": "Diseases of the skin", "primary": false}]}, "year": 2021, "classification": "Infectious and immunologic disorders"}
+{"pmid": "33246985", "patient_info": {"basic_info": "18-year-old man with Down syndrome presented with multiply relapsed CD22+/CD19 negative B-cell acute lymphoblastic leukemia (B-ALL) with non-central nervous system extramedullary disease following multiple cycles of chemotherapy, hematopoietic stem cell transplantation, and blinatumomab. Medical history notable for diagnosis of myelodysplastic syndrome at age 11 years and CD19+ B-ALL. He was referred for a phase I study of CD22 CAR T cells and achieved minimal residual disease negative complete remission with clearance of extramedullary disease following grade 2 cytokine release syndrome.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/33246985/fig/1.jpg"], "caption": "Flow cytometry of bone marrow or peripheral blood from the current patient, sequential time points before CD22 CAR T-cell therapy, after first infusion, and after second infusion, assessing CD19 and CD22 expression.", "detailed_caption": "A: Subfigure A of Figure 1, as shown on page 2, presents sequential flow cytometric dot plots depicting the evolution of CD19 and CD22 antigen expression on leukemic blasts from Case 1 at three time points: before CD22 CAR T-cell therapy, after the first infusion, and after the second infusion. This analysis was performed on bone marrow or peripheral blood samples to monitor antigen modulation following CD22-directed CAR T-cell immunotherapy in an 18-year-old patient with relapsed B-cell acute lymphoblastic leukemia. The figure demonstrates shifts in expression of CD19 and CD22 over the course of treatment, with no subjective interpretation provided.", "modalities": ["lab"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/33246985/fig/2.jpg"], "caption": "Line graph of mean fluorescence intensity (MFI) for CD10, CD19, CD22, CD24, and CD34 measured by flow cytometry during immunophenotypic analysis after CD22 CAR T-cell therapy.", "detailed_caption": "B: This subfigure presents a line graph showing concurrent changes in the mean fluorescence intensity (MFI) of several B cell antigens—CD10, CD19, CD22, CD24, and CD34—measured by flow cytometry as part of the immunophenotypic analysis following CD22 CAR T-cell immunotherapy, without indication of specific anatomical site or timing, and highlights variations in antigen expression over the sequential treatment course.", "modalities": ["lab"]}, {"type": "fig", "id": 1, "subfig": "C", "path": ["images/33246985/fig/3.jpg"], "caption": "Flow cytometry of biopsy sample demonstrating expression of CD33, HLA-DR, CD34, and CD117, and absence of CD19 and CD22. Morphological analysis of myeloid blasts from aspirate material.", "detailed_caption": "C: Immunophenotypic evaluation of concurrent myeloid sarcoma was performed using flow cytometry of the biopsy sample, demonstrating blast populations expressing myeloid markers (CD33, HLA-DR, CD34, CD117) and absent B lineage antigens (CD19, CD22), alongside morphological analysis of myeloid blasts from aspirate material.", "modalities": ["lab", "pathology"]}, {"type": "fig", "id": 1, "subfig": "D", "path": ["images/33246985/fig/4.jpg"], "caption": "H&E staining, MPO immunohistochemistry, and CD33 immunohistochemistry of myeloid lesion.", "detailed_caption": "H&E, MPO and CD33 immunohistochemistry from the myeloid lesion showing morphological appearance and staining pattern", "modalities": ["pathology"]}], "diagnosis": "Secondary myeloid sarcoma with concurrent B-ALL relapse in an 18-year-old with Down syndrome", "standardized_diagnosis": [{"original_term": "Down syndrome", "corrected_term": null, "code": "LD40.0", "title": "Down syndrome", "chapter": "Diseases of the skin", "primary": false}, {"original_term": "Secondary myeloid sarcoma", "corrected_term": null, "code": "2A60.39", "title": "Myeloid sarcoma", "chapter": "Neoplasms", "primary": true}, {"original_term": "B-ALL relapse", "corrected_term": null, "code": "2B33.3", "title": "ALL - [acute lymphoid leukaemia] NOS", "chapter": "Neoplasms", "primary": false}]}, "year": 2020, "classification": "Neoplastic diseases"}
+{"pmid": "33852783", "patient_info": {"basic_info": "39-year-old woman presented with fever, flank pain, and tender inguinal lymphadenopathy. Symptoms began 4 weeks before admission with bilateral inguinal swelling, followed by right-sided flank pain (rated 5/10), nausea, poor appetite, and foul-smelling urine. She had immigrated from Brazil 1 year earlier and had recently returned from a 3-month visit to Brazil. Lives alone with one kitten and one full-grown cat. Medical history includes hypothyroidism, asthma, bipolar disorder, dysmenorrhea, migraines, and multiple prior urinary tract infections. Physical examination showed temperature 36.6°C, blood pressure 100/63 mm Hg, heart rate 77 beats per minute, weight 67.5 kg, BMI 24.4. Patient appeared ill with right abdominal tenderness without rebound or guarding. Bilateral tender inguinal lymph nodes were palpable, with no hepatosplenomegaly. No palpable cervical, supraclavicular, infraclavicular, or axillary lymphadenopathy.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/33852783/tab/1.jpg"], "caption": "Laboratory results: hematocrit 36%, hemoglobin 11.6 g/dl, white-cell count 10,500 per μl, platelet count 409,000 per μl, erythrocyte sedimentation rate 41 mm/hr, C-reactive protein 100.7 mg/liter, blood glucose normal, electrolytes normal, creatine kinase normal, lactate dehydrogenase normal, liver function normal, kidney function normal.", "detailed_caption": "Laboratory results showed hematocrit 36%, hemoglobin 11.6 g/dl, white-cell count 10,500 per μl with normal differential, platelet count 409,000 per μl, elevated erythrocyte sedimentation rate 41 mm/hr (normal 0-20), and elevated C-reactive protein 100.7 mg/liter (normal <8). Blood glucose, electrolytes, creatine kinase, lactate dehydrogenase, liver function, and kidney function tests were normal.", "modalities": ["lab"]}, {"type": "fig", "id": 1, "subfig": null, "path": ["images/33852783/fig/2.jpg"], "caption": "(A,B) CT of the abdomen and pelvis, axial view, non-contrast. (C,D) CT of the upper abdomen, axial view.", "detailed_caption": "Axial images of the abdomen and pelvis (Panels A and B), obtained without the administration of contrast material, show bilateral inguinal lymphadenopathy (Panel A, arrows), which is more prominent on the right side than on the left side, and right external iliac lymphadenopathy (Panel B, arrow) with a normal left ovary (asterisk). Axial images through the level of the upper abdomen (Panels C and D) show lymphadenopathy in the porta hepatis (Panel C, arrow) and a borderline‑enlarged lymph node in the gastrohepatic ligament (Panel D, arrow).", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/33852783/fig/3.jpg"], "caption": "Biopsy Specimen of a Right Inguinal Lymph Node,(A) H&E staining. (B) H&E staining. (C) H&E staining. (D) H&E staining. (E) H&E staining. (F) H&E staining, higher magnification.", "detailed_caption": "Hematoxylin and eosin staining shows marked capsular thickening and fibrosis (Panel A). At the interface of the capsule and lymphoid tissue, there are prominent small vessels associated with increased plasma cells (Panel B, arrows), which were polytypic on RNA in situ hybridization for kappa and lambda immunoglobulin light chains (not shown). Some areas of the underlying lymphoid tissue contain increased numbers of reactive follicles (Panel C, arrows) with interspersed aggregates of reactive monocytoid B cells (Panel D), and other areas contain conspicuous histiocytic infiltrates that are consistent with ill-formed granulomas (Panel E, arrows). At higher magnification, histiocytes that can be seen within the granulomas are associated with small lymphocytes and plasma cells; giant cells and neutrophils are not present, and there is no central necrosis (Panel F).", "modalities": ["pathology"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/33852783/fig/4.jpg"], "caption": "(A, B) Lymph node specimen, Warthin–Starry silver staining. (B) Higher magnification.", "detailed_caption": "Warthin–Starry silver staining shows focal areas of the lymph‑node specimen that contain clumps of bacilli that appear black against a light brown counterstain and are associated with small vessels (Panels A and B, arrows). At higher magnification, the bacilli are pleomorphic and appear in small clusters (Panel B).", "modalities": ["pathology"]}], "diagnosis": "Bartonella henselae infection (cat scratch disease)", "standardized_diagnosis": [{"original_term": "Bartonella henselae infection", "corrected_term": null, "code": "1H0Z", "title": "infection NOS", "chapter": "Certain infectious or parasitic diseases", "primary": false}, {"original_term": "Cat scratch disease", "corrected_term": null, "code": "1B98", "title": "Cat-scratch disease", "chapter": "Certain infectious or parasitic diseases", "primary": true}]}, "year": 2021, "classification": "Infectious and immunologic disorders"}
+{"pmid": "case-12888", "patient_info": {"basic_info": "A 31-year-old woman with seizures. The clinical examination revealed mental retardation, dysarthria, diminished tongue side-movements and mild hyperreflexia. The electroencephalogram showed waveforms compatible with idiopathic generalized epilepsy.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case-12888/fig/1.jpg"], "caption": "(A,B) Axial T2-weighted MRI. (C,D) Axial T1-weighted MRI.", "detailed_caption": "Axial T2-weighted (a,b) and T1-weighted (c,d) images show thick and irregular cortex surrounding the Sylvian fissures (arrows).", "modalities": ["mri"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/case-12888/fig/2.jpg"], "caption": "(A,B) Sagittal T1-weighted MRI of the brain. (C) Coronal T1-weighted MRI of the brain.", "detailed_caption": "Sagittal (a,b) and coronal (c) T1-weighted images show that polymicrogyria involves the entire perisylvian cortex (arrows) and extents posteriorly to the central sulcus (curved arrows).", "modalities": ["mri"]}], "diagnosis": "Bilateral symmetrical perisylvian polymicrogyria", "standardized_diagnosis": [{"original_term": "Bilateral symmetrical perisylvian polymicrogyria", "corrected_term": null, "code": "LA05.50", "title": "Bilateral perisylvian polymicrogyria", "chapter": "Developmental anomalies", "primary": true}]}, "year": 1977, "classification": "Neurological disorders"}
+{"pmid": "case-11268", "patient_info": {"basic_info": "A 63-year-old Indian woman presented with fatigue and pain in the abdomen. On physical examination she had a palpable mass in the right hypochondrium region. The routine laboratory investigations revealed severe anaemia (haemoglobin 3.3gm).", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case-11268/fig/1.jpg"], "caption": "Ultrasound examination.", "detailed_caption": "US showing mixed echoic lesion with internal vascularity.", "modalities": ["ultrasound"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/case-11268/fig/2.jpg"], "caption": "Axial contrast-enhanced CT.", "detailed_caption": "Axial contrast enhanced CT showing well defined heterogenously enhancing mass lesion displacing duodenum laterally(arrow) and compressing IVC (asterisk).", "modalities": ["ct"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/case-11268/fig/3.jpg"], "caption": "CT, axial view, oral contrast.", "detailed_caption": "Axial CT with oral contrast showing contrast filling of the ulceration and communication with the duodenum lumen.", "modalities": ["ct"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/case-11268/fig/4.jpg"], "caption": "Gross photograph of a surgical specimen, duodenum, obtained intraoperatively.", "detailed_caption": "Figure 4 shows a gross photograph of a surgical specimen representing a resected gastrointestinal stromal tumour along with the “C” loop of the duodenum, as obtained intraoperatively. No imaging modality or staining procedures are involved; the anatomical site is the duodenum, and the specimen was acquired at the time of surgical resection, as depicted on page 6 of the document.", "modalities": ["pathology"]}, {"type": "fig", "id": 5, "subfig": null, "path": ["images/case-11268/fig/5.jpg"], "caption": "Barium meal follow through of the duodenum.", "detailed_caption": "Barium meal follow through showing widened c loop of duodenum.", "modalities": ["x-ray"]}], "diagnosis": "Histopathology and immunohistochemistry confirmed duodenal stromal tumour.", "standardized_diagnosis": [{"original_term": "Duodenal stromal tumour", "corrected_term": null, "code": "2B5B.1", "title": "Gastrointestinal stromal tumour of duodenum", "chapter": "Neoplasms", "primary": true}]}, "year": 1976, "classification": "Neoplastic diseases"}
+{"pmid": "case-11221", "patient_info": {"basic_info": "A 49-year-old man presented to us with a two-month history of weakness and epigastric pain, colicky in nature.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case-11221/fig/1.jpg"], "caption": "Upper gastrointestinal endoscopy of the 2nd part of the duodenum.", "detailed_caption": "Upper GI endoscopy shows the presence of an ulcerative lesion at the medial wall of the 2nd part of the duodenum.", "modalities": ["endoscopy"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/case-11221/fig/2.jpg"], "caption": "CT scan, axial view, duodenum.", "detailed_caption": "Axial CT scan shows the presence of a prominent lesion at the medial wall of the 2nd part of the duodenum.", "modalities": ["ct"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/case-11221/fig/3.jpg"], "caption": "CT of the duodenum, axial view, magnified.", "detailed_caption": "A magnified axial CT image with more evidence of the lesion of the 2nd part of the duodenum", "modalities": ["ct"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/case-11221/fig/4.jpg"], "caption": "CT scan, axial view, third part of the duodenum.", "detailed_caption": "Axial CT scan reveals circumferential wall thickening of the third part of the duodenum.", "modalities": ["ct"]}, {"type": "fig", "id": 5, "subfig": null, "path": ["images/case-11221/fig/5.jpg"], "caption": "CT scan, axial view.", "detailed_caption": "Axial CT scan reveals circumferential wall thickening of the third part of the duodenum.", "modalities": ["ct"]}], "diagnosis": "Primary duodenal diffuse large B-cell non-Hodgkin's Lymphoma", "standardized_diagnosis": [{"original_term": "Primary duodenal diffuse large B-cell non-Hodgkin's lymphoma", "corrected_term": null, "code": "2A81.Z", "title": "Diffuse large B-cell lymphomas", "chapter": "Neoplasms", "primary": true}]}, "year": 1976, "classification": "Neoplastic diseases"}
+{"pmid": "34134621", "patient_info": {"basic_info": "47-year-old male with 2-month history of fever, headache, myalgia, arthralgia, and malaise. History of inguinal hernia repair surgery 10 years ago and cardiac disease. On admission, body temperature was 37.3°C. Physical examination revealed aortic valve diastolic murmurs at the precordium.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/34134621/tab/1.jpg"], "caption": "Antibiotic susceptibility testing for strain LP10266.", "detailed_caption": "Antibiotic susceptibility testing showed strain LP10266 was sensitive to ampicillin (MIC 1.5 μg/ml), penicillin (0.5 μg/ml), imipenem (1 μg/ml), and levofloxacin (1 μg/ml), but resistant to cefazolin (>256 μg/ml), cefuroxime (>256 μg/ml), ceftriaxone (>256 μg/ml), meropenem (16 μg/ml), and vancomycin (>256 μg/ml).", "modalities": ["lab"]}, {"type": "fig", "id": 1, "subfig": "A", "path": ["images/34134621/fig/2.jpg"], "caption": "Transthoracic echocardiogram of the heart.", "detailed_caption": "Transthoracic echocardiogram showed membranous ventricular septum bulged into the right ventricle.", "modalities": ["ultrasound"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/34134621/fig/3.jpg"], "caption": "Transthoracic echocardiogram of the aortic valve.", "detailed_caption": "Transthoracic echocardiogram showed aortic valve prolapse and aortic valve excrescence formation combined with aortic valve regurgitation at moderate level.", "modalities": ["ultrasound"]}, {"type": "fig", "id": 1, "subfig": "C", "path": ["images/34134621/fig/4.jpg"], "caption": "Wright-Giemsa staining of bone marrow.", "detailed_caption": "Wright-Giemsa staining of bone marrow showing infective myelogram.", "modalities": ["pathology"]}, {"type": "fig", "id": 1, "subfig": "D", "path": ["images/34134621/fig/5.jpg"], "caption": "Hematoxylin-Eosin staining of cardiac excrescence.", "detailed_caption": "Hematoxylin-Eosin staining of cardiac excrescence showing infectious excrescence.", "modalities": ["pathology"]}], "diagnosis": "Infective endocarditis caused by Lactobacillus paracasei LP10266", "standardized_diagnosis": [{"original_term": "Infective endocarditis", "corrected_term": null, "code": "BB40", "title": "infective endocarditis NOS", "chapter": "Diseases of the circulatory system", "primary": true}]}, "year": 2021, "classification": "Infectious and immunologic disorders"}
+{"pmid": "case-15195", "patient_info": {"basic_info": "A 45-year-old female with a 3 month history of dyspareunia and urinary urgency", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case-15195/fig/1.jpg"], "caption": "MRI of the pelvis, axial view, T2-weighted sequence, female urethra and periurethral region.", "detailed_caption": "Figure 1 displays an axial T2-weighted MRI image of the pelvis showing a septated U-shaped hyperintense lesion along the posterior aspect of the urethra at the level of the pubic symphysis, with blue arrows indicating the lesion and a red arrow indicating the urethra; the imaging modality is magnetic resonance imaging, the anatomical site examined is the female urethra and periurethral region, and the key finding is a septated hyperintense lesion consistent with a urethral diverticulum.", "modalities": ["mri"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/case-15195/fig/2.jpg"], "caption": "(A) MRI of the pelvis, coronal view, T2-weighted sequence, acquired at the level of the pubic symphysis.", "detailed_caption": "Figure 2a presents a T2-weighted MRI coronal image of the pelvis showing a hyperintense lesion surrounding the urethra (indicated by a red arrow), consistent with a cystic process in the female genital/reproductive system, acquired at the level of the pubic symphysis; the lesion’s anatomical relationship and signal characteristics are depicted without additional information on acquisition timing or further technical parameters.", "modalities": ["mri"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/case-15195/fig/3.jpg"], "caption": "MRI of the female urethra at the level of the pubic symphysis.", "detailed_caption": "Figure 3a demonstrates a magnetic resonance imaging (MRI) study showing a septated cystic lesion (indicated by a blue arrow) surrounding the urethra at the level of the pubic symphysis, consistent with the appearance of a urethral diverticulum; the imaging modality is MR, the anatomical site is the female urethra, and the figure specifically highlights the lesion's septated and periurethral configuration on the image (see page 5).", "modalities": ["mri"]}], "diagnosis": "Urethral diverticulum", "standardized_diagnosis": [{"original_term": "Urethral diverticulum", "corrected_term": null, "code": "GC06", "title": "Urethral diverticulum", "chapter": "Diseases of the genitourinary system", "primary": true}]}, "year": 1976, "classification": "Gastrointestinal disorders"}
+{"pmid": "33845613", "patient_info": {"basic_info": "A 47-year-old woman presented with intermittent cough, shortness of breath, fever (body temperature up to 38.5°C), accompanied by right eyelid swelling around June 17, 2017, which worsened day by day. Weight loss was about 9 kg. Physical examination included high body temperature of 39°C, right eyelid swelling, and a painless enlarged lymph node about 2 cm × 2 cm in size in the left axilla. Auscultation of lungs revealed coarse respiratory sounds with moist rale. No hepatosplenomegaly and edema in lower limbs.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/33845613/fig/1.jpg"], "caption": "Chest CT scan of the lungs performed before treatment.", "detailed_caption": "Chest CT image showed interstitial exudation and mass lesions of both lungs before treatment, with left pleural effusion", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/33845613/fig/2.jpg"], "caption": "(A) Clinical photograph of the right thigh. (B) Pathological biopsy of the right thigh, gross specimen.", "detailed_caption": "Images showing prominent right thigh swelling and pathological biopsy revealing gray-white and gray-yellow neoplasm in intermuscular space", "modalities": ["clinical", "pathology"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/33845613/fig/3.jpg"], "caption": "(A) Histopathology. (B) Immunostaining for CD8. (C) Immunostaining for granzyme B. (D) Immunostaining for T-cell intracellular antigen-1 (TIA-1). Ki-67=50%.", "detailed_caption": "Histopathological findings demonstrated focal rimming of individual adipocytes by infiltrating small to medium-sized atypical lymphocytes. Immunostaining showed infiltrating lymphocytes positive for CD8, granzyme B, and T-cell intracellular antigen-1 (TIA-1), with Ki67 staining positive at 50%. (a) Focal rimming of individual adipocytes by infiltrating small to medium-sized atypical lymphocytes. (b–d) Immunostaining showed infiltrating lymphocytes positive for CD8 (b), granzyme B (c), and T-cell intracellular antigen-1(TIA)-1 (d).", "modalities": ["pathology"]}], "diagnosis": "Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) (IIB phase, IPI scores of 2)", "standardized_diagnosis": [{"original_term": "Subcutaneous panniculitis-like T-cell lymphoma", "corrected_term": null, "code": "2B00", "title": "Subcutaneous panniculitis-like T-cell lymphoma", "chapter": "Diseases of the skin", "primary": true}]}, "year": 2021, "classification": "Neoplastic diseases"}
+{"pmid": "case-14388", "patient_info": {"basic_info": "A 51-year-old non-smoking female hairdresser, presented to her primary care physician with a 3-4 month history of increased shortness of breath especially on exertion. Upon examination she was found to have dullness to percussion and reduced air entry to the left lung base, and oxygen saturation of 99% on air.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case-14388/fig/1.jpg"], "caption": "CT of the thorax, axial view.", "detailed_caption": "Axial slice ­ CT Thorax ­ large soft tissue mass in the left hemi­thorax.", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/case-14388/fig/2.jpg"], "caption": "CT of the thorax, coronal view.", "detailed_caption": "Coronal slice - CT Thorax - giant soft tissue mass in the left heme-thorax Origin Vijay Pakala, Radiology Department,Princess Royal Hospital,Telford, United Kingdom", "modalities": ["ct"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/case-14388/fig/3.jpg"], "caption": "Chest X-ray.", "detailed_caption": "Chest X-ray showing opacification of left heme-thorax", "modalities": ["x-ray"]}], "diagnosis": "A solitary fibrous tumour of the pleura was confirmed on histology", "standardized_diagnosis": [{"original_term": "Solitary fibrous tumour of pleura", "corrected_term": null, "code": "2F91.Y&XA5TT2", "title": "pleura tumour NOS", "chapter": "Neoplasms", "primary": true}]}, "year": 1976, "classification": "Neoplastic diseases"}
+{"pmid": "case-17040", "patient_info": {"basic_info": "A 61-year-old man presented recurring episodes of wake-up confusion and hallucinations. These symptoms normalized during the day, the patient had no recollection of the episodes. He had no relevant medical background Neurological examination and electroencephalogram were normal at admission.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case-17040/fig/1.jpg"], "caption": "CT of the pelvis, axial view, non-contrast.", "detailed_caption": "Figure 1 shows an axial non-contrast CT image of the pelvis depicting a well-defined retroperitoneal pelvic mass (measuring 11 x 14 x 11 cm) situated to the left of the bladder, with both the bladder and sigmoid colon displaced to the right; this image demonstrates the anatomical site and mass effect without contrast enhancement.", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/case-17040/fig/2.jpg"], "caption": "(A) Contrast-enhanced CT of the pelvis, axial view, arterial phase.", "detailed_caption": "Figure 2 (a) on page 4 presents an axial contrast-enhanced CT image of the pelvis, showing direct vascularization of the pelvic mass by a branch of the left internal iliac artery (indicated by an arrow); the scan demonstrates the arterial phase, and the examined site is the pelvic retroperitoneal region containing the solitary fibrous tumor.", "modalities": ["ct"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/case-17040/fig/3.jpg"], "caption": "(A) Axial contrast-enhanced CT of the pelvis.", "detailed_caption": "Figure 3 (a) demonstrates an axial contrast-enhanced CT image of the pelvis, showing important and heterogeneous peripheral enhancement of a well-circumscribed pelvic mass located to the left of the bladder, consistent with the hypervascular characteristics of the tumour.", "modalities": ["ct"]}], "diagnosis": "Pelvic solitary fibrous tumor confirmed at pathology after complete resection", "standardized_diagnosis": [{"original_term": "Pelvic solitary fibrous tumor", "corrected_term": null, "code": "2F9Z", "title": "neoplasm NOS", "chapter": "Neoplasms", "primary": true}]}, "year": 1977, "classification": "Neoplastic diseases"}
+{"pmid": "case-16471", "patient_info": {"basic_info": "A 56-year-old female patient presented with low-back and hip pain radiating down to her left leg for 12 months. She did not respond to initial management with conservative therapy of non-steroidal anti-inflammatory medications.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case-16471/fig/1.jpg"], "caption": "MRI of the lumbar spine, sagittal view, T2-weighted sequence.", "detailed_caption": "T2-weighted sagittal MRI of the lumbar spine showing bone-based malignancy from L3 to L5 causing severe canal stenosis and infiltrating anteriorly into the retroperitoneal space.", "modalities": ["mri"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/case-16471/fig/2.jpg"], "caption": "T2-weighted axial magnetic resonance image.", "detailed_caption": "T2-weighted axial magnetic resonance image shows very high signal intensity of the tumour, which infiltrating posteriorly into the paraspinal musculature and expanding into the abdomen and psoas muscles bilaterally. The tumour causes severe spinal stenosis with compression of the nerves.", "modalities": ["mri"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/case-16471/fig/3.jpg"], "caption": "Sagittal T1-weighted MRI of the vertebral bodies and retroperitoneal region.", "detailed_caption": "Sagittal T1-weighted image shows a low-intensity lesion penetrating from vertebral bodies to the retroperitoneum.", "modalities": ["mri"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/case-16471/fig/4.jpg"], "caption": "Sagittal T2-SPAIR MRI.", "detailed_caption": "Sagittal T2-SPAIR image shows a well-circumscribed high-intensity lesion.", "modalities": ["mri"]}, {"type": "fig", "id": 5, "subfig": null, "path": ["images/case-16471/fig/5.jpg"], "caption": "T1-weighted MRI with gadolinium contrast.", "detailed_caption": "T1-weighted image with gadolinium contrast demonstrates heterogenous contrast enhancement of the tumour.", "modalities": ["mri"]}], "diagnosis": "Chordoma of the vertebral bodie", "standardized_diagnosis": [{"original_term": "Chordoma", "corrected_term": null, "code": "2B5J", "title": "Chordoma", "chapter": "Neoplasms", "primary": true}]}, "year": 1977, "classification": "Neoplastic diseases"}
+{"pmid": "case-15241", "patient_info": {"basic_info": "A 57-year-old male patient with increasing abdominal pain accompanied by vomiting", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case-15241/fig/1.jpg"], "caption": "(A) Small bowel histopathological section, H&E staining.", "detailed_caption": "A: Figure 1a is a histopathological section of the small bowel wall stained with hematoxylin and eosin (H&E), showing marked inflammation involving all layers of the small bowel with serositis and prominent submucosal edema; the majority of inflammatory cells are eosinophils, which is characteristic of parasitic infestation, and a larva is visible outside the bowel wall (as indicated by the arrow).", "modalities": ["pathology"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/case-15241/fig/2.jpg"], "caption": "CT of the small intestine, axial view.", "detailed_caption": "Axial view: severe, submucosal oedema of the small intestine (arrow) with a small quantity of free peritoneal fluid, the proximal small bowel is dilated.", "modalities": ["ct"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/case-15241/fig/3.jpg"], "caption": "CT, coronal reconstruction, abdomen.", "detailed_caption": "The coronal reconstruction shows wall thickening of an ileal segment in the centre of the abdomen (arrow) with small bowel distension of the proximal intestinal loops.", "modalities": ["ct"]}], "diagnosis": "Acute intestinal obstruction from small-bowel anisakiasi", "standardized_diagnosis": [{"original_term": "Acute intestinal obstruction", "corrected_term": null, "code": "DB30.Z&XT5R", "title": "Obstruction of large intestine[Acute]", "chapter": "Diseases of the digestive system", "primary": true}, {"original_term": "Small-bowel anisakiasis", "corrected_term": null, "code": "1F61", "title": "Anisakiasis", "chapter": "Certain infectious or parasitic diseases", "primary": false}]}, "year": 1977, "classification": "Gastrointestinal disorders"}
+{"pmid": "case-18000", "patient_info": {"basic_info": "A 69-year-old male presented with a recent onset fever and worsening cough for 2 weeks. He had a history of chronic cough for 40 years and had been repeatedly treated for infections without any cross-sectional imaging performed earlier because of a lack of referral to a specialist center.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case-18000/fig/1.jpg"], "caption": "CT of the trachea, axial view.", "detailed_caption": "Selected axial CT image showing widened and flattened tracheal lumen", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/case-18000/fig/2.jpg"], "caption": "CT, coronal view.", "detailed_caption": "Selected coronal CT image showing tracheobronchomegaly with widened and ectatic contours of trachea and both major bronchi", "modalities": ["ct"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/case-18000/fig/3.jpg"], "caption": "Bronchoscopic image of the trachea.", "detailed_caption": "Bronchoscopic image showing flattened and widened tracheal lumen", "modalities": ["endoscopy"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/case-18000/fig/4.jpg"], "caption": "Bronchoscopic image of the left bronchus.", "detailed_caption": "Bronchoscopic image through the left bronchus showing similar widening and flattening of bronchial lumen", "modalities": ["endoscopy"]}], "diagnosis": "Mounier-Kuhn syndrome", "standardized_diagnosis": [{"original_term": "Mounier-Kuhn syndrome", "corrected_term": null, "code": "CA27.1", "title": "Mounier-Kuhn syndrome", "chapter": "Diseases of the respiratory system", "primary": true}]}, "year": 1977, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "case-13556", "patient_info": {"basic_info": "A 26-year-old woman presented with intellectual disability and refractory epilepsy.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case-13556/fig/1.jpg"], "caption": "Axial T2-weighted MRI of the brain, frontal lobes.", "detailed_caption": "Axial T2W images show bilateral symmetrical cortical surface irregularity, multiple small folds, scalloped appearance of the gray matter-white matter junction and abnormally thick cerebral cortex in both frontal lobes", "modalities": ["mri"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/case-13556/fig/2.jpg"], "caption": "(A) MRI, axial and coronal T2-weighted images, parieto-occipital regions.", "detailed_caption": "Axial and coronal T2W images show bilateral symmetrical multiple small folds in both parieto-occipital regions", "modalities": ["mri"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/case-13556/fig/3.jpg"], "caption": "Sagittal FLAIR MRI of the brain, frontal and parieto-occipital regions.", "detailed_caption": "Sagittal FLAIR image shows irregularity of cortical surface and abnormally thick cerebral cortex in frontal and parieto-occipital regions", "modalities": ["mri"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/case-13556/fig/4.jpg"], "caption": "(A) MRI, axial view, FLAIR sequence.", "detailed_caption": "Figure 4 (a) presents an axial FLAIR MRI image demonstrating a focal hyperintense area in the right centrum semiovale.", "modalities": ["mri"]}, {"type": "fig", "id": 5, "subfig": null, "path": ["images/case-13556/fig/5.jpg"], "caption": "MRI of the brain, diffusion-weighted imaging.", "detailed_caption": "Diffusion-weighted MRI images showed no restriction of diffusion in any region of the brain.", "modalities": ["mri"]}], "diagnosis": "Bifrontal and bilateral parasagittal parieto-occipital polymicrogyria", "standardized_diagnosis": [{"original_term": "Polymicrogyria", "corrected_term": null, "code": "LA05.50", "title": "Polymicrogyria", "chapter": "Developmental anomalies", "primary": true}]}, "year": 1976, "classification": "Neurological disorders"}
+{"pmid": "case-13534", "patient_info": {"basic_info": "An ultrasound (US) examination of the left axilla was requested to evaluate a sudden appearing nodular axillary tumefaction in a 35-year-old woman in her first day of the puerperium. No other inflammatory signs were apparent and the patient denied any accompanying symptoms such as fever or local pain.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case-13534/fig/1.jpg"], "caption": "Ultrasound of the left axilla, longitudinal plane.", "detailed_caption": "Longitudinal plane of the left axilla, depicting several tubular anechoic structures compatible with lactating milk ducts, with a vascularized stroma between them.", "modalities": ["ultrasound"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/case-13534/fig/2.jpg"], "caption": "Ultrasound of the left axilla, axial plane, high frequency linear array transducer, performed on the first day of puerperium.", "detailed_caption": "Figure 2 shows an axial plane ultrasound image of the left axilla, obtained with a high frequency linear array transducer on the first day of puerperium, depicting multiple tubular anechoic structures consistent with lactating milk ducts interspersed within echogenic vascularized tissue, indicative of ectopic axillary breast tissue with prominent lactational changes.", "modalities": ["ultrasound"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/case-13534/fig/3.jpg"], "caption": "Clinical photograph of the left axillary region.", "detailed_caption": "Figure 3a presents a clinical photograph of the left axillary region showing the clinically detected tumefaction with a nipple at its center, corresponding to accessory axillary breast tissue exhibiting lactational changes, as confirmed by physical examination.", "modalities": ["clinical"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/case-13534/fig/4.jpg"], "caption": "Clinical photograph.", "detailed_caption": "A: Clinical photograph demonstrating a supernumerary nipple located at the center of the image.", "modalities": ["clinical"]}, {"type": "fig", "id": 5, "subfig": null, "path": ["images/case-13534/fig/5.jpg"], "caption": "Clinical photograph of the region caudal to the left breast.", "detailed_caption": "Another supernumerary nipple (caudal to the left breast) is shown, slightly indurated and tumefactive.", "modalities": ["clinical"]}], "diagnosis": "Lactating accessory axillary breast tissue with supernumerary nipples", "standardized_diagnosis": [{"original_term": "Accessory axillary breast tissue", "corrected_term": null, "code": "LB62", "title": "breast of axilla", "chapter": "Developmental anomalies", "primary": true}, {"original_term": "Supernumerary nipples", "corrected_term": null, "code": "LB63", "title": "Supernumerary nipple", "chapter": "Developmental anomalies", "primary": false}]}, "year": 1977, "classification": "Gastrointestinal disorders"}
+{"pmid": "case-14933", "patient_info": {"basic_info": "A 61-year-old female patient presented to the ER with diarrhoea, nausea, vomiting and 38.5 °C temperature Physical examination showed normal results.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case-14933/fig/1.jpg"], "caption": "(A) Longitudinal ultrasound B-mode image of the gallbladder.", "detailed_caption": "(a) Longitudinal US B-mode image shows a distended gallbladder without stones (*), markedly thick wall with sonolucent intramural layers (oedema) (thin arrow) and a little fluid collection (thick arrow); compatible with acute acalculous cholecystitis.", "modalities": ["ultrasound"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/case-14933/fig/2.jpg"], "caption": "(b) Transverse ultrasound B-mode image of the gallbladder.", "detailed_caption": "(b) Transverse US B-mode image shows a distended gallbladder without stones (*), markedly thick wall with sonolucent intramural layers (oedema) (thin arrow) and a little fluid collection (thick arrow); compatible with acute acalculous cholecystitis.", "modalities": ["ultrasound"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/case-14933/fig/3.jpg"], "caption": "(A) Longitudinal ultrasound B-mode image of the ascending colon.", "detailed_caption": "(a) Longitudinal US B-mode image shows marked mucosal thickening of the ascending colon (thin arrow).", "modalities": ["ultrasound"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/case-14933/fig/4.jpg"], "caption": "(B) Ultrasound B-mode, transverse oblique view, terminal ileum and ascending colon.", "detailed_caption": "(b) Transverse Oblique US B-mode image shows marked mucosal thickening affectin the terminal ileum (thick arrow) and ascending colon (thin arrow).", "modalities": ["ultrasound"]}], "diagnosis": "Acute acalculous cholecystitis due to salmonella enterocolitis", "standardized_diagnosis": [{"original_term": "Acute acalculous cholecystitis", "corrected_term": null, "code": "DC12.0Z", "title": "acute acalculous cholecystitis", "chapter": "Diseases of the digestive system", "primary": true}, {"original_term": "Salmonella enterocolitis", "corrected_term": null, "code": "1A40.Z", "title": "enterocolitis", "chapter": "Certain infectious or parasitic diseases", "primary": false}]}, "year": 1977, "classification": "Infectious and immunologic disorders"}
+{"pmid": "case-17996", "patient_info": {"basic_info": "A 15-year-old boy presented with recent onset of breathlessness, weight loss, and tiredness for two months and a crusting erythematous scalp rash for six months. The investigations revealed neutrophilia, raised C-reactive protein (CRP), and Alanine Aminotransferase (ALT). The blood urea and electrolytes, thyroid function tests, anti-nuclear antibodies, and clotting studies were normal", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case-17996/fig/1.jpg"], "caption": "Chest radiograph.", "detailed_caption": "Chest radiograph showing extensive bilateral reticulonodular consolidation, predominantly affecting the upper and mid zones, some with cavitation (large arrow). In addition, there are some ring shadows suggestive of cysts (small arrows)", "modalities": ["x-ray"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/case-17996/fig/2.jpg"], "caption": "CT of the lung apices, axial view.", "detailed_caption": "Axial CT through the lung apices showing multiple coalescing nodules which demonstrate cavitation (large arrow). Few thin-walled cysts (small arrows) are also seen", "modalities": ["ct"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/case-17996/fig/3.jpg"], "caption": "CT, coronal view.", "detailed_caption": "Coronal CT demonstrating involvement of the costophrenic recesses (arrows)", "modalities": ["ct"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/case-17996/fig/4.jpg"], "caption": "HRCT bone window of the sternum.", "detailed_caption": "HRCT bone window demonstrating focal lytic lesion in the sternum (arrow)", "modalities": ["ct"]}], "diagnosis": "Multisystem Langerhans Cell Histiocytosis with pulmonary and skeletal involvement", "standardized_diagnosis": [{"original_term": "Multisystem Langerhans Cell Histiocytosis", "corrected_term": null, "code": "2B31.2Z", "title": "Langerhans cell histiocytosis", "chapter": "Diseases of the skin", "primary": true}, {"original_term": "Pulmonary involvement in Langerhans Cell Histiocytosis", "corrected_term": null, "code": "2B31.2Y", "title": "Adult pulmonary Langerhans cell histiocytosis", "chapter": "Diseases of the skin", "primary": false}, {"original_term": "Skeletal involvement in Langerhans Cell Histiocytosis", "corrected_term": null, "code": "2B31.2Z", "title": "Langerhans cell histiocytosis", "chapter": "Diseases of the skin", "primary": false}]}, "year": 1977, "classification": "Neoplastic diseases"}
+{"pmid": "case-18244", "patient_info": {"basic_info": "A 17-year-old girl presented to the emergency department with constipation and bloodless vomiting for 3 weeks. The vomiting worsened after food ingestion. The patient was exhausted and underweight, although she did not suffer abdominal pain. At admission, the patient had unwillingly lost 10 kg over 2 years, resulting in a body mass index of 14. During this period, she started prevention medicine due to a loss of menstruation. The patient had no prior medical or surgical history. Blood tests revealed an increased sed rate (ESR) of 33 (normal range: 2-20) as the only outlier. A contrast-enhanced CT was ordered based on the acute exacerbating of vomiting and constipation, with ileus as the tentative diagnosis.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case-18244/fig/1.jpg"], "caption": "CT scan, axial plane, venous phase, performed at admission, aorto-mesenteric distance=3.3 mm.", "detailed_caption": "CT scan in the venous phase showing the axial plane performed at admission highlights the decreased aorto-mesenteric distance of 3.3 mm and a distended stomach. No complications were noted", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/case-18244/fig/2.jpg"], "caption": "CT scan in the venous phase, sagittal plane, performed at admission, aorto-mesenteric angle=13.6°.", "detailed_caption": "CT scan in the venous phase showing the sagittal plane performed at admission highlights the decreased aorto-mesenteric angle of 13.6° and a distended stomach. No complications were noted", "modalities": ["ct"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/case-18244/fig/3.jpg"], "caption": "Fluoroscopy of the stomach and duodenum, lateral plane, performed 30 minutes post-peroral administration of 200 mL contrast, examination performed during the month of admission.", "detailed_caption": "Fluoroscopy of the stomach and duodenum in the lateral plane 30 minutes post-contrast. Shows a large and distended stomach. The contrast had trouble passing through to the third segment of the duodenum. The examination was performed the same month as admission. The patient was administered 200 mL of peroral contrast", "modalities": ["general imaging"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/case-18244/fig/4.jpg"], "caption": "CT scan in the arterial phase, axial view, performed after surgery, aorto-mesenteric distance=20.3 mm.", "detailed_caption": "CT scan in the arterial phase showing the axial plane after surgery highlights the normalised aorto-mesenteric distance of 20.3 mm. No significant complications were noted", "modalities": ["ct"]}, {"type": "fig", "id": 5, "subfig": null, "path": ["images/case-18244/fig/5.jpg"], "caption": "CT scan in the arterial phase, sagittal plane, performed after surgery, aorto-mesenteric angle=32.2°.", "detailed_caption": "CT scan in the arterial phase showing the sagittal plane after surgery highlights the normalised aorto-mesenteric angle of 32.2°. No significant complications were noted", "modalities": ["ct"]}], "diagnosis": "Superior mesenteric artery syndrome", "standardized_diagnosis": [{"original_term": "Superior mesenteric artery syndrome", "corrected_term": null, "code": "LB14", "title": "congenital superior mesenteric artery syndrome", "chapter": "Diseases of the digestive system", "primary": true}]}, "year": 1977, "classification": "Gastrointestinal disorders"}
+{"pmid": "case-18419", "patient_info": {"basic_info": "A 12-year-old female presented to the Emergency Department with a 48-hour history of abdominal pain localised in the hypogastrium, which had progressively worsened in the last few hours. The patient mentioned previous episodes of less intense abdominal pain. Considering the clinical suspicion of acute appendicitis, an abdominal ultrasound was requested.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case-18419/fig/1.jpg"], "caption": "(1a) Sagittal ultrasound of the pelvis. (1b) Axial ultrasound of the pelvis.", "detailed_caption": "Sagittal (1a) and axial (1b) ultrasound images of the markedly dilated vagina with abundant echogenic material in its lumen. The mass effect of the distended vagina displaces the bladder anteriorly.", "modalities": ["ultrasound"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/case-18419/fig/2.jpg"], "caption": "(1a) Ultrasound, sagittal view, vagina. (1b) Ultrasound, axial view, vagina.", "detailed_caption": "Sagittal (1a) and axial (1b) ultrasound images of the markedly dilated vagina with abundant echogenic material in its lumen. The mass effect of the distended vagina displaces the bladder anteriorly.", "modalities": ["ultrasound"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/case-18419/fig/3.jpg"], "caption": "Sagittal ultrasound of the uterus and vagina.", "detailed_caption": "Sagittal ultrasound image of the uterus and vagina. The uterus shows a pubertal morphology, with no dilation or content in its lumen.", "modalities": ["ultrasound"]}], "diagnosis": "Hematocolpos", "standardized_diagnosis": [{"original_term": "Hematocolpos", "corrected_term": null, "code": "GA14.1", "title": "Haematocolpos", "chapter": "Diseases of the genitourinary system", "primary": true}]}, "year": 1977, "classification": "Genetic and congenital disorders"}
+{"pmid": "case-18230", "patient_info": {"basic_info": "A 35-year-old patient presented to A&E with complaints of sudden onset pain in scrotum extending to perineum, scrotal swelling, loss of penile erection following sexual intercourse. On examination the patient had scrotal swelling and bruising at the base of the penis and scrotum, but no penile swelling.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case-18230/fig/1.jpg"], "caption": "Coronal T1-weighted MRI of the penis (right corpus cavernosum, base).", "detailed_caption": "A defect within the tunica albuginea of the right-sided corpus cavernosum close to the base of the penis - Coronal T1W", "modalities": ["mri"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/case-18230/fig/2.jpg"], "caption": "Coronal T2-weighted MRI of the base of the penis.", "detailed_caption": "A defect within the tunica albuginea of the right-sided corpus cavernosum close to the base of the penis - Coronal T2W", "modalities": ["mri"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/case-18230/fig/3.jpg"], "caption": "Coronal T2-weighted MRI scan of the base of the penis.", "detailed_caption": "A: Figure 3a is a coronal T2-weighted magnetic resonance imaging (MRI) scan demonstrating a soft tissue haematoma at the base of the penis.", "modalities": ["mri"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/case-18230/fig/4.jpg"], "caption": "Sagittal T2-weighted MRI.", "detailed_caption": "Figure 4a demonstrates a sagittal T2-weighted MRI image showing a soft tissue haematoma extending into the right scrotal sac.", "modalities": ["mri"]}, {"type": "fig", "id": 5, "subfig": null, "path": ["images/case-18230/fig/5.jpg"], "caption": "Ultrasound of the penis and scrotal region, grayscale mode.", "detailed_caption": "A: Figure 5a on page 7 presents a grayscale ultrasound image of the penis, demonstrating the right testis and a region labeled as scrotal hematoma, consistent with a sonographic examination of the penile and scrotal region, with findings indicating a soft tissue hematoma in the right scrotal area.", "modalities": ["ultrasound"]}], "diagnosis": "Fracture of penis", "standardized_diagnosis": [{"original_term": "Fracture of penis", "corrected_term": null, "code": "NB97.1", "title": "Fractured penis", "chapter": "Injury, poisoning or certain other consequences of external causes", "primary": true}]}, "year": 1977, "classification": "Orthopedic and connective tissue disorders"}
+{"pmid": "case-15759", "patient_info": {"basic_info": "A 20-year-old woman with complaints of eructation and vomiting. She was diagnosed with autism when she was 3 years old. The patient is given probiotics, intestinal antiseptics, antibiotics, laxatives and enemas. She has followed a gluten-free diet since she was 5 years old. The patient already had episodes of such symptoms in the previous 12 years.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case-15759/fig/1.jpg"], "caption": "CT of the abdomen.", "detailed_caption": "Severe air dilation of the small bowel and colon. There are no signs of pneumoperitoneum and no gas-fluid levels. The lumen of the colon in approximately 70 mm.Origin Pavlov MV, Radiology Department, The Loginov MCSC MHD, Moscow, Russia", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/case-15759/fig/2.jpg"], "caption": "Digital radiograph from a barium meal study of the stomach.", "detailed_caption": "Figure 2 (page 5) presents a digital radiograph from a barium meal study, showing the stomach in a dilated and hypotonic state with continuous rugal patterns and fine mucosal relief visible; there is no evidence of pooling of contrast material, filling defects, or convergence of mucosal folds, and the anatomical focus is the stomach.", "modalities": ["x-ray"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/case-15759/fig/3.jpg"], "caption": "Fluoroscopic image from a barium meal study of the stomach.", "detailed_caption": "Figure 3 presents a fluoroscopic image from a barium meal study showing the stomach, which is dilated, bent, and hypotonic, with fine mucosal relief visible and no evidence of pooling of contrast material, filling defects, or convergence of mucosal folds.", "modalities": ["x-ray"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/case-15759/fig/4.jpg"], "caption": "Barium meal digital radiograph of the abdomen.", "detailed_caption": "Figure 4a presents a barium meal digital radiograph of the abdomen, showing the stomach displaced upward by dilated small bowel and colon and exhibiting bending in its middle third, with evidence of adequate flow of contrast material from the stomach into the small bowel.", "modalities": ["x-ray"]}], "diagnosis": "Stomach bending and chronic intestinal pseudo-obstruction", "standardized_diagnosis": [{"original_term": "Gastric volvulus", "corrected_term": null, "code": "DA40.2", "title": "Gastric volvulus", "chapter": "Diseases of the digestive system", "primary": false}, {"original_term": "Chronic intestinal pseudo-obstruction", "corrected_term": null, "code": "DA90.2", "title": "Chronic idiopathic intestinal pseudo-obstruction", "chapter": "Diseases of the digestive system", "primary": true}]}, "year": 1976, "classification": "Gastrointestinal disorders"}
+{"pmid": "case-18330", "patient_info": {"basic_info": "A 47-year-old man presented to the emergency department with abdominal pain", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case-18330/fig/1.jpg"], "caption": "Non-contrast CT, axial section.", "detailed_caption": "Non-contrast axial CT section shows hyperdense surgical clips in the appendiceal stump (arrow).", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/case-18330/fig/2.jpg"], "caption": "CT, portal venous phase, axial view.", "detailed_caption": "Portal venous phase contrast-enhanced axial CT section shows a dilated appendiceal remnant (arrow) and stranding of the surrounding fat.", "modalities": ["ct"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/case-18330/fig/3.jpg"], "caption": "Coronal CT, portal venous phase, abdomen.", "detailed_caption": "Portal venous phase contrast-enhanced coronal CT section shows an enhancing tubular structure near the caecal pole, dilated, with wall thickening and stratification. There is a periappendiceal fluid collection and fat stranding. Surgical clips are visible.", "modalities": ["ct"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/case-18330/fig/4.jpg"], "caption": "Contrast-enhanced coronal CT of the abdomen, portal venous phase.", "detailed_caption": "Portal venous phase contrast-enhanced coronal CT section evidences a wall perforation and a periappendiceal organized fluid collection (yellow circle).", "modalities": ["ct"]}, {"type": "fig", "id": 5, "subfig": null, "path": ["images/case-18330/fig/5.jpg"], "caption": "CT, portal venous phase, axial section.", "detailed_caption": "Portal venous phase contrast-enhanced axial CT section reveals an organized fluid collection near the caecal pole (arrow) and fat stranding.", "modalities": ["ct"]}], "diagnosis": "Stump appendicitis", "standardized_diagnosis": [{"original_term": "Stump appendicitis", "corrected_term": null, "code": "DB10.Z", "title": "Appendicitis", "chapter": "Diseases of the digestive system", "primary": true}]}, "year": 1977, "classification": "Gastrointestinal disorders"}
+{"pmid": "case-18886", "patient_info": {"basic_info": "An 84-year-old woman presented with intermittent lower limb pain, sensory disturbances, and gait/balance difficulties over 1.5 years, worsening over six months. She was wheelchair-bound at presentation. The patient reported longstanding rectal incontinence but denied back pain.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case-18886/fig/1.jpg"], "caption": "Sagittal MRI of the spine, T1-weighted fast spin echo with fat saturation.", "detailed_caption": "T1 FSE fat-sat sagittal MRI of the spine.", "modalities": ["mri"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/case-18886/fig/2.jpg"], "caption": "MRI, T2 FRFSE fat-sat sequence, sagittal plane, thoracic spine (Th8).", "detailed_caption": "T2 FRFSE fat-sat image in the sagittal plane showcasing ventral positioning of the spinal cord at the level of Th8.", "modalities": ["mri"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/case-18886/fig/3.jpg"], "caption": "T2 FRFSE fat-sat MRI, axial plane, Th8 level.", "detailed_caption": "T2 FRFSE fat-sat image in the axial plane at the level of Th8 showcasing the split cord malformation within a single dural tube, with no visible osseous spur or fibrous septum.", "modalities": ["mri"]}], "diagnosis": "Split cord malformation type 2", "standardized_diagnosis": [{"original_term": "Split cord malformation type 2", "corrected_term": null, "code": "LA07.1", "title": "Split cord malformation", "chapter": "Developmental anomalies", "primary": true}]}, "year": 1977, "classification": "Neurological disorders"}
+{"pmid": "case-18746", "patient_info": {"basic_info": "A 70-year-old male presents to his general practitioner with progressively worsening lower back pain and sciatica over the past four months. Previously, this patient underwent a posterior interbody fusion at L5–S1. Given his history and absence of other clinical abnormalities, the patient was referred to radiology for a CT scan of the lumbar spine.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case-18746/fig/1.jpg"], "caption": "(A) Contrast-enhanced CT, retroperitoneal region, axial view. (B) Contrast-enhanced CT, retroperitoneal region, coronal view.", "detailed_caption": "Contrast-enhanced CT showing a sharply demarcated retroperitoneal mass in the right flank, predominantly fat-containing with soft tissue components on axial (1a) and coronal (1b) slices.", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/case-18746/fig/2.jpg"], "caption": "(A) Contrast-enhanced CT of the retroperitoneal region, axial view. (B) Contrast-enhanced CT of the retroperitoneal region, coronal view.", "detailed_caption": "Contrast-enhanced CT showing a sharply demarcated retroperitoneal mass in the right flank, predominantly fat-containing with soft tissue components on axial (1a) and coronal (1b) slices.", "modalities": ["ct"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/case-18746/fig/3.jpg"], "caption": "Abdominal ultrasound.", "detailed_caption": "Abdominal ultrasound shows a hyperechoic solid lesion situated in the right flank.", "modalities": ["ultrasound"]}], "diagnosis": "Extra-adrenal myelolipoma", "standardized_diagnosis": [{"original_term": "Extra-adrenal myelolipoma", "corrected_term": null, "code": "2E80.0Z", "title": "Lipoma", "chapter": "Neoplasms", "primary": true}]}, "year": 1976, "classification": "Neoplastic diseases"}
+{"pmid": "case-18299", "patient_info": {"basic_info": "A 75-year-old man visited the outpatient department complaining of back pain that localised to the mid-lower dorsal region. Additionally, he had a nocturnal fever of 39°C for the last month or so, accompanied by fatigue, headaches, and anorexia. Physical examination revealed localised tenderness over the pointed area in the back. Preliminary lab results elicited CRP at 39 mg/L, and Brucella agglutination test was 1/320. Hence, a blood culture was ordered, which was positive for the growth of the Brucella microorganism.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case-18299/fig/1.jpg"], "caption": "MRI of the dorsolumbar spine, sagittal view, T1-weighted sequence.", "detailed_caption": "T1 sequence MRI of the dorsolumbar spine (sagittal view) shows remarkably low signal within T8 and T9 vertebral bodies due to bone marrow oedema associated with minimal erosion of the T8 inferior endplate as signs of spondylitis. The intervening disc looks relatively higher signal. Old fracture with anterior wedging of T11 also seen.", "modalities": ["mri"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/case-18299/fig/2.jpg"], "caption": "MRI of the dorsolumbar spine, sagittal view, T2-weighted sequence.", "detailed_caption": "T2 sequence MRI of dorsolumbar spine (sagittal view) shows subtle increased signal within T8 and T9 vertebral bodies due to bone marrow oedema associated with minimal erosion of the T8 inferior endplate as signs of spondylitis. Not much change within the intervening disc material. Old fracture with anterior wedging of T11 also seen.", "modalities": ["mri"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/case-18299/fig/3.jpg"], "caption": "MRI of the dorsolumbar spine, sagittal view, fat-suppressed STIR sequence.", "detailed_caption": "Fat suppression STIR sequence MRI of dorsolumbar spine (sagittal view) shows brightly highlighted abnormal signal within T8 and T9 vertebral bodies due to bone marrow oedema associated with minimal erosion of the T8 inferior endplate as signs of spondylitis. Not much change within the intervening disc material. Old fracture with anterior wedging of T11 also seen.", "modalities": ["mri"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/case-18299/fig/4.jpg"], "caption": "MRI of the dorsolumbar spine at T9 level, axial view, T2-weighted sequence.", "detailed_caption": "T2 sequence MRI of the dorsolumbar spine at T9 level (axial view) shows confinement of the signal abnormality to the bony vertebra without extraosseous extension.", "modalities": ["mri"]}, {"type": "fig", "id": 5, "subfig": null, "path": ["images/case-18299/fig/5.jpg"], "caption": "MRI of the dorsolumbar spine at T9 level, axial view, T1-weighted sequence.", "detailed_caption": "T1 sequence MRI of the dorsolumbar spine at T9 level (axial view) shows confinement of the signal abnormality to the bony vertebra without extraosseous extension.", "modalities": ["mri"]}], "diagnosis": "Brucella spondyliti", "standardized_diagnosis": [{"original_term": "Brucella spondylitis", "corrected_term": null, "code": "FA13", "title": "Spondylitis in brucellosis", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": true}]}, "year": 1977, "classification": "Infectious and immunologic disorders"}
+{"pmid": "case-18149", "patient_info": {"basic_info": "A 40-year-old woman presented with a palpable lump in her left superior breast. Mammography and US and biopsy performed, confirming invasive carcinoma NST Grade 2. MRI performed pre-operatively due to occult on mammography. Subsequent left breast mastectomy and reconstruction with right breast mastopexy.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case-18149/fig/1.jpg"], "caption": "Mammography at initial visit.", "detailed_caption": "Mammography at initial visit", "modalities": ["general imaging"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/case-18149/fig/2.jpg"], "caption": "Ultrasound of the superior left breast.", "detailed_caption": "US superior left breast", "modalities": ["ultrasound"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/case-18149/fig/3.jpg"], "caption": "MRI, pre-operative, fat-saturated T1-weighted sequence, post intravenous contrast, 2 minutes.", "detailed_caption": "MRI pre-operative. Fat sat T1W post IV contrast 2 mins", "modalities": ["mri"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/case-18149/fig/4.jpg"], "caption": "MRI at 6 months post-operation, fat-saturated T1-weighted sequence, 2 minutes post intravenous contrast.", "detailed_caption": "MRI post-operative at 6 months. Fat sat T1W post IV contrast 2 mins Orig University Foundation Trust Hospital. Cambridge, UK", "modalities": ["mri"]}, {"type": "fig", "id": 5, "subfig": null, "path": ["images/case-18149/fig/5.jpg"], "caption": "(A) MRI at 18 months post-operative, non fat-saturated T1-weighted sequence. (B) MRI at 18 months post-operative, non fat-saturated T2-weighted sequence. (C) MRI at 18 months post-operative, fat-saturated T1-weighted sequence, post intravenous contrast at 2 minutes. (D) MRI at 18 months post-operative, subtracted fat-saturated T1-weighted sequence, post intravenous contrast at 2 minutes.", "detailed_caption": "MRI post-operative at 18 months. A) Non fat sat T1; B) Non fat sat T2; C) Fat sat T1W post IV contrast 2 mins; D) Subtracted fat sat T1W post IV contrast 2 mins", "modalities": ["mri"]}], "diagnosis": "Suture granuloma", "standardized_diagnosis": [{"original_term": "Suture granuloma", "corrected_term": null, "code": "EH93.1", "title": "Cutaneous suture granuloma", "chapter": "Diseases of the skin", "primary": true}]}, "year": 1977, "classification": "Dermatologic and mucosal diseases"}
+{"pmid": "case-17746", "patient_info": {"basic_info": "A 54-year-old female presented to the Emergency Department for weakness, epigastric discomfort and nausea", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case-17746/fig/1.jpg"], "caption": "CT scan of the chest, axial view.", "detailed_caption": "Axial view of chest CT scan showing a mass occupying the right atrium", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/case-17746/fig/2.jpg"], "caption": "(A) Triphasic CT scan of the abdomen, axial view, arterial phase. (B) Triphasic CT scan of the abdomen, coronal view, arterial phase.", "detailed_caption": "Axial and coronal view of triphasic CT scan of the abdomen showing a mass in the VII- VIII hepatic segment (arrow) with inhomogeneous contrast enhancement in the arterial phase extending into the inferior vena cava and right atrium", "modalities": ["ct"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/case-17746/fig/3.jpg"], "caption": "(A) Triphasic CT of the abdomen, axial and coronal views, arterial phase.", "detailed_caption": "Axial and coronal view of triphasic CT scan of the abdomen showing a mass in the VII- VIII hepatic segment (arrow) with inhomogeneous contrast enhancement in the arterial phase extending into the inferior vena cava and right atrium", "modalities": ["ct"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/case-17746/fig/4.jpg"], "caption": "CT scan of the abdomen, axial view, portal venous phase.", "detailed_caption": "Axial view of triphasic CT scan of the abdomen showing portal venous phase washout of the mass (arrow) in the VIII-VIII hepatic segment of a polycystic liver", "modalities": ["ct"]}, {"type": "fig", "id": 5, "subfig": null, "path": ["images/case-17746/fig/5.jpg"], "caption": "CT of the abdomen, sagittal view.", "detailed_caption": "Sagittal view of abdomen CT scan showing massive thrombosis of the IVC (arrow) reaching the iliac bifurcation", "modalities": ["ct"]}], "diagnosis": "Hepatocellular carcinoma with tumor thrombus into the right atrium", "standardized_diagnosis": [{"original_term": "Hepatocellular carcinoma", "corrected_term": null, "code": "2C12.02", "title": "hepatocellular carcinoma, NOS", "chapter": "Diseases of the digestive system", "primary": true}, {"original_term": "Tumor thrombus in right atrium", "corrected_term": null, "code": "LA8F", "title": "Divided right atrium", "chapter": "Developmental anomalies", "primary": false}]}, "year": 1977, "classification": "Neoplastic diseases"}
+{"pmid": "case-18872", "patient_info": {"basic_info": "A 58-year-old male with worsening nausea for the past 72 hours presented to the emergency department with severe chest pain radiating to the back in the context of 4 recent episodes of non-bloody, non-bilious emesis. He was afebrile, diaphoretic, and mildly tachycardic. Cardiac workup, complete blood count, and electrolytes were normal.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case-18872/fig/1.jpg"], "caption": "Chest radiograph, posteroanterior (PA) view.", "detailed_caption": "Chest radiograph PA view showing pneumococcalastinum extending to the neck (re arrows), tiny left apical pneumothorax (orange arrow), and left pleural effusion with consolidation/atelectasis (black circle).", "modalities": ["x-ray"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/case-18872/fig/2.jpg"], "caption": "CT of the chest, coronal view, lung window.", "detailed_caption": "Coronal view CT chest (lung window) showing pneumococcalastinum extending to the neck (red arrows). Left pneumothorax at the lung base (orange arrow) not previously seen on the chest radiograph is also demonstrated.", "modalities": ["ct"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/case-18872/fig/3.jpg"], "caption": "CT of the chest, axial view, lung window.", "detailed_caption": "Axial view CT chest (lung window) showing pneumococcalastinum with air around the oesophagus (red arrow), left pneumothorax (orange arrow), and bilateral pleural effusions (black arrows).", "modalities": ["ct"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/case-18872/fig/4.jpg"], "caption": "CT of the chest, axial view, soft tissue window.", "detailed_caption": "Axial view CT chest (soft tissue window) showing thickened distal oesophagus (red arrow) and complex attenuating pleural effusions (black arrows).", "modalities": ["ct"]}], "diagnosis": "Boerhaave syndrome", "standardized_diagnosis": [{"original_term": "Boerhaave syndrome", "corrected_term": null, "code": "DA20.30", "title": "Boerhaave syndrome", "chapter": "Diseases of the digestive system", "primary": true}]}, "year": 1977, "classification": "Gastrointestinal disorders"}
+{"pmid": "case-18953", "patient_info": {"basic_info": "A 12-year-old Malagasy boy consulted for a fever that had been evolving for two months, with a notion of trauma and pain in the right upper quadrant as well as chronic diarrhoea. A parasitological examination of the stool found eggs of Schistosoma mansoni. An ultrasound and a CT scan were then ordered.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case-18953/fig/1.jpg"], "caption": "Ultrasound of hepatic segment VII.", "detailed_caption": "Ultrasound image showing a fluid collection in the hepatic segment VII.", "modalities": ["ultrasound"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/case-18953/fig/2.jpg"], "caption": "CT of the liver, axial view, portal phase.", "detailed_caption": "Axial CT scan (portal phase) demonstrating the double target sign of liver abscesses: hypodense centres (blue arrow), hyperdense rim (green arrow) and hypodense perilesional oedema (orange arrow).", "modalities": ["ct"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/case-18953/fig/3.jpg"], "caption": "Coronal CT scan of the liver, portal phase.", "detailed_caption": "Coronal CT scan (portal phase) demonstrating the double target sign of liver abscesses hypodense centres (blue arrow), hyperdense rim (green arrow) and hypodense perilesional oedema (orange arrow). There is a rupture into the Morison’s pouch and hepatosplenomegaly.", "modalities": ["ct"]}], "diagnosis": "Liver pyogenic abscess", "standardized_diagnosis": [{"original_term": "Liver pyogenic abscess", "corrected_term": null, "code": "DB90.0&XN74M", "title": "Pyogenic liver abscess", "chapter": "Diseases of the digestive system", "primary": true}]}, "year": 1977, "classification": "Gastrointestinal disorders"}
+{"pmid": "case-4797", "patient_info": {"basic_info": "A 13-year-old boy was submitted to pelvis X-ray and MR due to left hip pain during sport activity and at rest Imaging Findings:", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case-4797/fig/1.jpg"], "caption": "MRI, SE T1-weighted sequence, coronal scan.", "detailed_caption": "MRI with SE T1-weighted coronal scan detects the slipping of the left capital femur epiphysis.", "modalities": ["mri"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/case-4797/fig/2.jpg"], "caption": "MRI, coronal view, T2-weighted sequence with fat suppression.", "detailed_caption": "MRI with T2-weighted coronal scans with fat suppression technique shows two areas of bone marrow edema near the growth plate (arrows).", "modalities": ["mri"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/case-4797/fig/3.jpg"], "caption": "(A,B) Pelvis anteroposterior x-ray, frog lateral position.", "detailed_caption": "Pelvis AP x-ray film performed in the frog lateral position shows the pathological angle between the head and the neck of the left femur (B) and the normal aspect of the controlateral femur head (A).", "modalities": ["x-ray"]}], "diagnosis": "Left femoral epiphysiolysis", "standardized_diagnosis": [{"original_term": "Femoral epiphysiolysis", "corrected_term": null, "code": "FB82.Y", "title": "Epiphysiolysis", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": true}]}, "year": 1976, "classification": "Orthopedic and connective tissue disorders"}
+{"pmid": "case-17647", "patient_info": {"basic_info": "A 69-year-old female non-smoker presented with a 6-month history of progressive breathlessness. She had no relevant past medical history or drug history. Spirometry showed FEV1 32% predicted and a flow-volume loop suggesting severe small airway disease. Transthoracic echocardiogram was normal.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case-17647/fig/1.jpg"], "caption": "(A) Axial unenhanced high-resolution CT of the thorax, lung window, inspiration. (B) Axial unenhanced high-resolution CT of the thorax, lung window, expiration.", "detailed_caption": "Axial unenhanced high resolution CT slices through the thorax (lung windows) in inspiration (A) and expiration (B). Mosaicism exacerbated in expiration suggests air-trapping (arrow). Vessel calibre within the hypoattenuated regions is reduced (arrow head)", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/case-17647/fig/2.jpg"], "caption": "CT of the thorax, axial view, mediastinal window, unenhanced.", "detailed_caption": "Unenhanced axial slices through the thorax on mediastinal windows demonstrating bilateral homogenous solid soft-tissue nodules and masses (arrows)", "modalities": ["ct"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/case-17647/fig/3.jpg"], "caption": "Unenhanced CT of the thorax, axial view, high-resolution, right upper lobe, 33 mm mass.", "detailed_caption": "A: Figure 3 depicts an unenhanced axial high-resolution CT slice of the thorax showing a 33 mm smoothly lobulated solid mass in the right upper lobe, which is airway-centric with a thick-walled proximal traversing airway.", "modalities": ["ct"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/case-17647/fig/4.jpg"], "caption": "Sagittal HRCT of the airway.", "detailed_caption": "Sagittal HRCT shows finger-like plugging of the airway (arrow head) immediately beyond the mass (asterisk) with intermittent patency of the distal airway (arrow)", "modalities": ["ct"]}, {"type": "fig", "id": 5, "subfig": null, "path": ["images/case-17647/fig/5.jpg"], "caption": "CT of the thorax, axial view, post-contrast, right upper lobe mass, non-contrast 32 HU, post-contrast 68 HU.", "detailed_caption": "Axial post-contrast CT thorax demonstrates heterogeneous enhancement of the right upper lobe mass (arrow), 32 HU non-contrast, 68 HU post contrast", "modalities": ["ct"]}], "diagnosis": "Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia (DIPNECH) with carcinoid tumours", "standardized_diagnosis": [{"original_term": "Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia", "corrected_term": null, "code": "2F00.Y", "title": "Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia", "chapter": "Neoplasms", "primary": true}, {"original_term": "Carcinoid tumour", "corrected_term": null, "code": "2C25.Y", "title": "Bronchial carcinoid tumour", "chapter": "Diseases of the respiratory system", "primary": false}]}, "year": 1977, "classification": "Neoplastic diseases"}
+{"pmid": "case-6224", "patient_info": {"basic_info": "A 61-year-old woman presented for 3 years with a progressive visual disturbance such as difficulties in writing, reading, drawing and calculations.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case-6224/fig/1.jpg"], "caption": "Cerebral MRI, T2-weighted axial image.", "detailed_caption": "Figure 1. cerebral MRI, T2-weighted axial image shows, bilateral parieto-occipital atrophy", "modalities": ["mri"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/case-6224/fig/2.jpg"], "caption": "Cerebral MRI, T1-weighted, sagittal view.", "detailed_caption": "Figure 2. cerebral MRI, T1-weighted sagittal image shows, atrophy of de left parieto- occipital lobe.", "modalities": ["mri"]}], "diagnosis": "Posterior cortical atrophy", "standardized_diagnosis": [{"original_term": "Posterior cortical atrophy", "corrected_term": null, "code": "8A21.0", "title": "Posterior cortical atrophy", "chapter": "Diseases of the nervous system", "primary": true}]}, "year": 1976, "classification": "Neurological disorders"}
+{"pmid": "case-18432", "patient_info": {"basic_info": "A 23-year-old woman was referred to our Emergency Department with a four-day history of acute epigastric pain unresponsive to pain relief medication. She was afebrile and had unremarkable medical history and laboratory tests except for an elevated C reactive protein at 25 mg/l. The presumptive diagnosis was a perforated duodenal/gastric ulcer.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case-18432/fig/1.jpg"], "caption": "(A) Axial CT image, pre-contrast, gastro-hepatic ligament region, average density 55 Hounsfield Units, mass size 40×15 mm. (B) Axial CT image, post-contrast, portal-venous phase, gastro-hepatic ligament region, mass size 40×15 mm.", "detailed_caption": "Axial CT images, before (A) and after contrast administration on a portal-venous phase (B). Well-defined mass of 40x15mm located at the level of the gastro-hepatic ligament, near the porta hepatis, slightly heterogeneous with an average non-contrast density similar to that of the liver parenchyma (55 Hounsfield Units) showing no enhancement (yellow arrows).", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/case-18432/fig/2.jpg"], "caption": "(A) Coronal CT before contrast administration. (B) Coronal CT after contrast administration, portal venous phase.", "detailed_caption": "Reconstructed coronal CT images, before (A) and after contrast administration on a portal venous phase (B). A non-enhancing epigastric mass of 40x21 mm with the same characteristics mentioned above (yellow arrows).", "modalities": ["ct"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/case-18432/fig/3.jpg"], "caption": "(A) Contrast-enhanced CT, axial view. (B) Contrast-enhanced CT, coronal view.", "detailed_caption": "Axial (A) and coronal (B) contrast-enhanced CT images. At the periphery of the anomaly, adjacent to the common hepatic artery, several serpiginous hyperattenuating structures, apparently of a vascular origin, were observed to suddenly interrupt (yellow arrows).", "modalities": ["ct"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/case-18432/fig/4.jpg"], "caption": "Intraoperative photographs of the liver and stomach region.", "detailed_caption": "Figure 4 depicts intraoperative findings, showing a red-brown mass located adjacent to the lesser curvature of the stomach; surgical retraction reveals a narrow pedicle arising from the liver parenchyma, with the normal liver seen on the left side of the images and the necrotic accessory liver lobe on the right, consistent with torsion and infarction of an accessory liver lobe as visually confirmed during surgery (source: intraoperative photographs on page 6).", "modalities": ["clinical"]}], "diagnosis": "Torsion and infarction of an accessory liver lobe", "standardized_diagnosis": [{"original_term": "Torsion of accessory liver lobe", "corrected_term": null, "code": "GA18.5&XA3EF0", "title": "torsion of accessory tube", "chapter": "Diseases of the genitourinary system", "primary": true}, {"original_term": "Infarction of accessory liver lobe", "corrected_term": null, "code": "DB98.0", "title": "Infarction of liver", "chapter": "Diseases of the digestive system", "primary": false}]}, "year": 1977, "classification": "Gastrointestinal disorders"}
+{"pmid": "case-2824", "patient_info": {"basic_info": "Local swelling and pain in her left shin.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case-2824/fig/1.jpg"], "caption": "Anteroposterior radiograph of the left tibia.", "detailed_caption": "Anteroposterior radiograph of the left tibia shows a sharply delineated expansile osteolytic lesion at the middle third of the diaphysis with reactive bone sclerosis and small satellite radiolucent foci in direct continuity with the major lesion.", "modalities": ["x-ray"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/case-2824/fig/2.jpg"], "caption": "Coronal and sagittal SE-T1 weighted images.", "detailed_caption": "Coronal and sagittal SE-T1 weighted images demonstrate a central well-defined expansile lesion of homogeneous intermediate signal intensity (asterisk) with small satellite foci (black arrows) and decreased signal in the periphery of the lesion consistent with sclerotic changes (white arrows).", "modalities": ["mri"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/case-2824/fig/3.jpg"], "caption": "Coronal STIR MRI.", "detailed_caption": "On coronal STIR image, the lesion shows homogeneous high signal intensity.", "modalities": ["mri"]}], "diagnosis": "Adamantinoma of the tibia", "standardized_diagnosis": [{"original_term": "Adamantinoma of the tibia", "corrected_term": null, "code": "2B5J", "title": "Adamantinoma", "chapter": "Neoplasms", "primary": true}]}, "year": 1975, "classification": "Neoplastic diseases"}
+{"pmid": "case-19003", "patient_info": {"basic_info": "A 39-year-old male, with no prior relevant medical history, presents with atraumatic intermittent sharp pain in the lower segment of the right anterior thoracic wall. The symptoms began two months earlier when the patient started exercising (CrossFit), mostly triggered by training (especially abdominal crunches) whilst being asymptomatic in normal daily activities.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case-19003/fig/1.jpg"], "caption": "Ultrasound of the right anterior chest wall, longitudinal view, supine position.", "detailed_caption": "Longitudinal view of the right anterior chest wall in supine position. The space between the 7th, 8th and 9th ribs is preserved.", "modalities": ["ultrasound"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/case-19003/fig/2.jpg"], "caption": "Ultrasound of the right anterior chest wall, longitudinal view.", "detailed_caption": "Longitudinal view of the right anterior chest wall while the patient starts performing an abdominal crunch. The 9th rib is mobile and migrates upwards towards the 8th rib.", "modalities": ["ultrasound"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/case-19003/fig/3.jpg"], "caption": "Ultrasound of the right anterior chest wall, longitudinal view, performed during abdominal crunch.", "detailed_caption": "Longitudinal view of the right anterior chest wall while the patient performs an abdominal crunch. The 9th rib is seen in close proximity to the superior rib and is pinned beneath the 8th rib.", "modalities": ["ultrasound"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/case-19003/fig/4.jpg"], "caption": "Longitudinal ultrasound of the right anterior chest wall.", "detailed_caption": "Longitudinal view of the right anterior chest wall while the patient relaxes and returns to the supine position. The 9th rib is mobile and is seen returning to its normal position.", "modalities": ["ultrasound"]}], "diagnosis": "Slipping rib syndrome", "standardized_diagnosis": [{"original_term": "Slipping rib syndrome", "corrected_term": null, "code": "FB82.Y", "title": "slipping rib syndrome", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": true}]}, "year": 1977, "classification": "Orthopedic and connective tissue disorders"}
+{"pmid": "case0-15940", "patient_info": {"basic_info": "A patient with known Crohn's disease presented with difficulties to pass stool, a sensation of a foreign body in the rectum and limited rectal bleeding. An endoscopy was performed as the first examination. A gallstone was found in the rectum and it was removed without complications.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case0-15940/fig/1.jpg"], "caption": "MRI of the abdomen, coronal view, small bowel follow-through protocol with oral and intravenous contrast.", "detailed_caption": "Figure 1 is a coronal MRI image of the abdomen, acquired as a small bowel follow-through with oral and intravenous contrast, demonstrating a fistulous tract between the gallbladder and the hepatic flexure of the colon; the image specifically highlights the anatomical connection characteristic of a cholecystocolonic fistula.", "modalities": ["mri"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/case0-15940/fig/2.jpg"], "caption": "Coronal MR image of the abdomen, small bowel follow-through with oral and intravenous contrast.", "detailed_caption": "This figure presents a coronal MR image of the abdomen acquired as a small bowel follow-through with oral and intravenous contrast, in which the fistulous tract is clearly visualized connecting the gallbladder and the colon, specifically between the gallbladder and the hepatic flexure, as indicated by the arrow.", "modalities": ["mri"]}], "diagnosis": "Cholecvstocolonic fistula", "standardized_diagnosis": [{"original_term": "Cholecystocolonic fistula", "corrected_term": null, "code": "DC10.2", "title": "Cholecystocolonic fistula", "chapter": "Diseases of the digestive system", "primary": true}]}, "year": 1977, "classification": "Gastrointestinal disorders"}
+{"pmid": "case-9383", "patient_info": {"basic_info": "10-year-old male patient presented with an 18 month history of pain and swelling of the left tibia", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case-9383/fig/1.jpg"], "caption": "Plain radiograph of the left leg.", "detailed_caption": "Plain radiographs of the left leg demonstrating an expansile lytic lesion of the tibia diaphysis. Note the ill-defined margins and involvement of the central medullary cavity.", "modalities": ["x-ray"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/case-9383/fig/2.jpg"], "caption": "(A) Coronal FLAIR MRI and T1-weighted MRI pre- and post-gadolinium of the medullary cavity.", "detailed_caption": "Coronal FLAIR, T1-W pre and post gadolinium demonstrates homogeneously enhancing solitary lesion with complete invasion of the medullary cavity, a feature more commonly seen in adamantinomas.", "modalities": ["mri"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/case-9383/fig/3.jpg"], "caption": "Axial MRI of both legs, pre- and post-gadolinium.", "detailed_caption": "Pre and post gadolinium axial MRI images of both legs, once again clearly demonstrates the lesion on the left. Note the expansile nature of the lesion with diffuse cortical thinning, in comparison to the right.", "modalities": ["mri"]}], "diagnosis": "Adamantinoma", "standardized_diagnosis": [{"original_term": "Adamantinoma", "corrected_term": null, "code": "2B5J", "title": "Adamantinoma", "chapter": "Neoplasms", "primary": true}]}, "year": 1976, "classification": "Neoplastic diseases"}
+{"pmid": "case-18974", "patient_info": {"basic_info": "A 13-year-old male presented with pain in the right hypochondrium and loss of appetite for 1 month. There was no history of fever. The patient has a history of a successfully treated abdominal tuberculosis, for which he had taken anti-tubercular treatment for 1 year.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case-18974/fig/1.jpg"], "caption": "(1a) Contrast-enhanced CT of the abdomen, axial view. (1b) Contrast-enhanced CT of the abdomen, coronal view.", "detailed_caption": "Axial (1a) and coronal (1b) contrast-enhanced CT images of the abdomen showing an accessory lobe of liver inferior to segment IV, reaching till the porta posteriorly (asterisk).", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/case-18974/fig/2.jpg"], "caption": "(A) Contrast-enhanced CT of the abdomen, axial view. (B) Contrast-enhanced CT of the abdomen, coronal view.", "detailed_caption": "Axial (1a) and coronal (1b) contrast-enhanced CT images of the abdomen showing an accessory lobe of liver inferior to segment IV, reaching till the porta posteriorly (asterisk).", "modalities": ["ct"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/case-18974/fig/3.jpg"], "caption": "CT of the abdomen, axial view, contrast-enhanced maximum intensity projection.", "detailed_caption": "Axial contrast-enhanced maximum intensity projection CT image of the abdomen showing the lobe being supplied by a branch of the left hepatic artery (arrow).", "modalities": ["ct"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/case-18974/fig/4.jpg"], "caption": "Coronal contrast-enhanced CT of the abdomen.", "detailed_caption": "Coronal contrast-enhanced CT image of the abdomen showing dilatation of central and peripheral intrahepatic bile ducts (arrows).", "modalities": ["ct"]}, {"type": "fig", "id": 5, "subfig": null, "path": ["images/case-18974/fig/5.jpg"], "caption": "Coronal contrast-enhanced CT of the abdomen.", "detailed_caption": "Coronal contrast-enhanced CT image of the abdomen showing attenuated calibre of the left branch of the portal vein (arrow) as compared to the right.", "modalities": ["ct"]}], "diagnosis": "Accessory liver lobe", "standardized_diagnosis": [{"original_term": "Accessory liver lobe", "corrected_term": null, "code": "LB20.2Y", "title": "Accessory hepatic duct", "chapter": "Diseases of the digestive system", "primary": true}]}, "year": 1976, "classification": "Gastrointestinal disorders"}
+{"pmid": "case0-11465", "patient_info": {"basic_info": "A 40-year-old woman with a 2-year history of progressive dysphagia and dyspnoea.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case0-11465/fig/1.jpg"], "caption": "CT angiography of the thoracic region, axial view, contrast-enhanced, posterior mediastinum.", "detailed_caption": "Figure 1 shows an axial contrast-enhanced CT angiography image of the thoracic region, depicting an aberrant right subclavian artery (ARSA) compressing the oesophagus, with the anatomical focus on the posterior mediastinum.", "modalities": ["ct", "angiography"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/case0-11465/fig/2.jpg"], "caption": "Axial contrast-enhanced CT angiography of the chest, mediastinum at the level of the aortic arch.", "detailed_caption": "Figure 2 presents an axial contrast-enhanced CT angiography image of the chest showing an aberrant right subclavian artery (ARSA) compressing the oesophagus (labeled \"E\"), with the trachea (\"T\") and aortic arch (\"Arcus Ao\") also identified; the anatomical site examined is the mediastinum at the level of the aortic arch, and the key finding is the posterior course of the ARSA resulting in oesophageal compression.", "modalities": ["ct", "angiography"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/case0-11465/fig/3.jpg"], "caption": "CT angiography scan, sagittal plane, anatomical region: right subclavian artery and oesophagus.", "detailed_caption": "Figure 3a demonstrates a CT angiography scan in the sagittal plane, showing the aberrant right subclavian artery (ARSA) compressing the oesophagus (E) as it takes a posterior course, indicated by a white arrow; the image highlights the anatomical relationship between the aberrant vessel and the oesophagus, acquired from the radiology department.", "modalities": ["ct", "angiography"]}], "diagnosis": "Arteria lusoria", "standardized_diagnosis": [{"original_term": "Arteria lusoria", "corrected_term": null, "code": "LA8B.24", "title": "arteria lusoria", "chapter": "Developmental anomalies", "primary": true}]}, "year": 1976, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "case-2172", "patient_info": {"basic_info": "A 4-month history of a slowly enlarging subcutaneous mass in the left thigh. Clinical examination revealed a soft, well-defined, smooth mass subcutaneously in the anterior surface of the left thigh.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case-2172/fig/1.jpg"], "caption": "Axial T1-weighted MRI of the thigh (TR/TE: 640/17).", "detailed_caption": "Axial T1-weighted image (TR/TE:640/17) shows a low to isointense well-delineated subcutaneous mass in the anterior part of the thigh. Note the areas of high signal intensity with mostly peripheral distribution (arrows) as well as the incomplete hypointense rim surounding the posterior border of the lesion (arrowhead). The mass compresses the adjacent muscles and superficial fascia without any sign of invasion.", "modalities": ["mri"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/case-2172/fig/2.jpg"], "caption": "Axial MRI, T2-weighted image (TR/TE: 3000/25).", "detailed_caption": "Axial IR T2-weighted image (TR/TE: 3000/25) shows a high signal intensity mass with low signal internal areas (arrows).", "modalities": ["mri"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/case-2172/fig/3.jpg"], "caption": "Axial T1-weighted MRI after administration of paramagnetic agent.", "detailed_caption": "Axial T1-weighted image after the administration of paramagnetic agent shows that the lesion remains unenhanced.", "modalities": ["mri"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/case-2172/fig/4.jpg"], "caption": "MRI, sagittal view, T1-weighted sequence (TR/TE: 30/13).", "detailed_caption": "Sagittal T1-weighted image (TR/TE: 30/13) shows the craniocaudal extension of the lesion.", "modalities": ["mri"]}, {"type": "fig", "id": 5, "subfig": null, "path": ["images/case-2172/fig/5.jpg"], "caption": "Microscopic examination, H&E staining, 40× magnification.", "detailed_caption": "Microscopic examination (HE x40) shows a cyst lined by stratified squamous epithelium with a granular layer surrounding laminated keratin.", "modalities": ["pathology"]}], "diagnosis": "Cutaneous epidermal cyst", "standardized_diagnosis": [{"original_term": "Cutaneous epidermal cyst", "corrected_term": null, "code": "EK70.0Z", "title": "Epidermal cyst", "chapter": "Diseases of the skin", "primary": true}]}, "year": 1975, "classification": "Dermatologic and mucosal diseases"}
+{"pmid": "case0-15195", "patient_info": {"basic_info": "A 45-year-old female with a 3 month history of dyspareunia and urinary urgency", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case0-15195/fig/1.jpg"], "caption": "Axial T2-weighted MRI of the female pelvis.", "detailed_caption": "Figure 1 presents an axial T2-weighted MRI image of the female pelvis demonstrating a septated U-shaped hyperintense lesion along the posterior aspect of the urethra, consistent with a urethral diverticulum, as indicated by blue arrows, with the urethra itself marked by a red arrow.", "modalities": ["mri"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/case0-15195/fig/2.jpg"], "caption": "Coronal T2-weighted MRI of the pelvis, female urethra and periurethral region.", "detailed_caption": "Figure 2a on page 4 presents a coronal T2-weighted MRI image of the pelvis demonstrating a T2 hyperintense lesion surrounding the urethra, as indicated by a red arrow; the anatomical site examined is the female urethra and periurethral region, with the image acquired for the assessment of a suspected urethral diverticulum, but without specification of the precise timing relative to symptoms or procedures.", "modalities": ["mri"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/case0-15195/fig/3.jpg"], "caption": "MRI of the pelvis at the level of the pubic symphysis.", "detailed_caption": "Figure 3a presents a magnetic resonance imaging (MRI) scan demonstrating a septated cystic lesion (indicated by a blue arrow) surrounding the urethra at the level of the pubic symphysis; the image is from the Department of Radiology, Clínica Ricardo Palma, Lima, Perú, and depicts the anatomical relationship between the cystic lesion and the urethra, consistent with the features of urethral diverticulum observed on MR imaging.", "modalities": ["mri"]}], "diagnosis": "Urethral diverticulum", "standardized_diagnosis": [{"original_term": "Urethral diverticulum", "corrected_term": null, "code": "GC06", "title": "Urethral diverticulum", "chapter": "Diseases of the genitourinary system", "primary": true}]}, "year": 1976, "classification": "Genetic and congenital disorders"}
+{"pmid": "case0-13488", "patient_info": {"basic_info": "A 48-year-old female patient with slow-growing, unilateral, right-side retroareolar breast lump was referred to undergo mammography. She complained of right breast progressively enlarging lump for the last years. No history of pain or discharge.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case0-13488/fig/1.jpg"], "caption": "Right mammography, craniocaudal (CC) view.", "detailed_caption": "Right CC view: Multiple, well-defined, rounded, radio-opaque structures in the right retroareolar region with surrounding low attenuating hallow. No focal calcification in the vicinity. No evidence of skin thickening or nipple retraction.", "modalities": ["general imaging"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/case0-13488/fig/2.jpg"], "caption": "Right mammogram, mediolateral oblique (MLO) view.", "detailed_caption": "Right MLO view: Multiple, well-defined, rounded, radio-opaque structures in the right retroareolar region with surrounding low attenuating hallow.", "modalities": ["x-ray"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/case0-13488/fig/3.jpg"], "caption": "Ultrasound of the ducts.", "detailed_caption": "Ultrasound: A well-defined, echogenic, solid-appearing lesion in the dilated duct. Adjacent dilated ducts are also noted.", "modalities": ["ultrasound"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/case0-13488/fig/4.jpg"], "caption": "Ultrasound of dilated ducts.", "detailed_caption": "Ultrasound: Multiple echogenic, solid lesion in dilated ducts.", "modalities": ["ultrasound"]}], "diagnosis": "Intraductal papillary neoplasms", "standardized_diagnosis": [{"original_term": "Intraductal papillary neoplasm", "corrected_term": null, "code": "2E92.8", "title": "Intraductal papillary mucinous neoplasm of pancreas", "chapter": "Neoplasms", "primary": true}]}, "year": 1976, "classification": "Neoplastic diseases"}
+{"pmid": "case0-17343", "patient_info": {"basic_info": "A 31-year-old female, G3P2, came in with 5-day history of severe menorrhagia. She was treated medically and discharged. She was readmitted 2 days later with menorrhagia and anaemia (haemoglobin of 77). The patient had suffered a spontaneous miscarriage a few months earlier.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case0-17343/fig/1.jpg"], "caption": "CT of the pelvis, arterial phase, axial view.", "detailed_caption": "Arterial phase axial CT of the pelvis demonstrating abnormal myometrial enhancer arrows) thought to represent the AVM with contrast blush of extravasation", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/case0-17343/fig/2.jpg"], "caption": "Selective angiography of the right uterine artery.", "detailed_caption": "Selective angiographic images over the right uterine artery confirmed tortuous and multiple arteriovenous malformation with active extravasation into the uterine cavity. 325 - 500 micron particles used to selectively embolise the malformation branches and stop further extravasation. The right uterine artery itself is preserved", "modalities": ["angiography"]}], "diagnosis": "Uterine arteriovenous malformation", "standardized_diagnosis": [{"original_term": "Uterine arteriovenous malformation", "corrected_term": null, "code": "LA90.32", "title": "Uterine arteriovenous malformations", "chapter": "Developmental anomalies", "primary": true}]}, "year": 1976, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "case-4402", "patient_info": {"basic_info": "A multitrauma patient was admitted to the intensive care unit (ICU) due to an intrahepatic hematoma. On the 7th day of ICU hospitalization, he presented fever. Laboratory blood tests showed leucocytosis and elevated liver function values.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case-4402/fig/1.jpg"], "caption": "Ultrasonography of the gallbladder performed on day 7 of intensive care unit hospitalization. Gallbladder wall thickness=5.9 mm.", "detailed_caption": "Ultrasonography of the gallbladder performed on the 7th day of intensive care unit hospitalization demonstrates marked thickening of the gallbladder wall (5.9 mm), associated with sludge formation and a significant amount of pericholecystic fluid, findings indicative of acute acalculous cholecystitis in a critically ill patient.", "modalities": ["ultrasound"]}], "diagnosis": "Acute acalculous cholecystitis in a critically ill patient.", "standardized_diagnosis": [{"original_term": "Acute acalculous cholecystitis", "corrected_term": null, "code": "DC12.0Z", "title": "acute acalculous cholecystitis", "chapter": "Diseases of the digestive system", "primary": true}]}, "year": 1976, "classification": "Gastrointestinal disorders"}
+{"pmid": "case-5707", "patient_info": {"basic_info": "A 46 year old HIV positive Portuguese man, presented with a 10 day history of shortness of breath, dry cough, fever and a sore throat. There was no history of recent foreign travel.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case-5707/fig/1.jpg"], "caption": "Chest radiograph.", "detailed_caption": "Chest radiograph showing right upper lobe consolidation and ill­defined right postero­ basal medial shadowing", "modalities": ["x-ray"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/case-5707/fig/2.jpg"], "caption": "HRCT of the thorax.", "detailed_caption": "HRCT thorax showing a right upper lobar distribution of ground glass opacification containing several areas of cystic change that raise the suspicion of PCP.", "modalities": ["ct"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/case-5707/fig/3.jpg"], "caption": "HRCT of the thorax, basal areas.", "detailed_caption": "HRCT thorax through the basal areas showing a smaller region of ground glass opacification also containing areas of cystic change in the posteromedial segment of the right lower lobe.", "modalities": ["ct"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/case-5707/fig/4.jpg"], "caption": "BAL microscopy.", "detailed_caption": "Figure 4 shows BAL (bronchoalveolar lavage) microscopy demonstrating an adult Strongyloides worm surrounded by an inflammatory infiltrate.", "modalities": ["pathology"]}], "diagnosis": "Pulmonary strongyloidiasis in an HIV infected patient", "standardized_diagnosis": [{"original_term": "HIV infection", "corrected_term": null, "code": "1C62.Z", "title": "HIV infection", "chapter": "Diseases of the immune system", "primary": false}, {"original_term": "Pulmonary strongyloidiasis", "corrected_term": null, "code": "1F6B", "title": "Strongyloidiasis", "chapter": "Certain infectious or parasitic diseases", "primary": true}]}, "year": 1976, "classification": "Infectious and immunologic disorders"}
+{"pmid": "case1-16943", "patient_info": {"basic_info": "At the age of 30 months, the patient began presenting an evolving framework of severe cognitive and neurological impairment, with tetraparesis and mixed spastic-dystonic features, language delay and deafness. Moreover, she has coarse facial features, presenting a high forehead and hypertelorism; her tongue is protruding due to macroglossia.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case1-16943/fig/1.jpg"], "caption": "MRI, T2-weighted sequence, brain, periventricular region.", "detailed_caption": "Diffuse periventricular hyperintensities in T2 as diffuse poor myelination.", "modalities": ["mri"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/case1-16943/fig/2.jpg"], "caption": "MRI, T2-weighted sequence, globus pallidus.", "detailed_caption": "Bilateral T2 hypo-intensity at the medial and lateral segments of the globus pallidus, separated by a thin hyperintense band on T2.", "modalities": ["mri"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/case1-16943/fig/3.jpg"], "caption": "MRI, brain, axial view, T1-weighted sequence, without contrast.", "detailed_caption": "T1 axial without contrast.", "modalities": ["mri"]}], "diagnosis": "Fucosidosis", "standardized_diagnosis": [{"original_term": "Fucosidosis", "corrected_term": null, "code": "5C56.21", "title": "Fucosidosis", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": true}]}, "year": 1975, "classification": "Genetic and congenital disorders"}
+{"pmid": "case0-9740", "patient_info": {"basic_info": "34-year-old male patient presented with wrist pain after being struck by a car while cycling", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case0-9740/fig/1.jpg"], "caption": "Radiograph, anteroposterior view, initial examination.", "detailed_caption": "Initial AP radiograph. No acute fracture seen. In particular, the hamate appears normal. Positive ulnar variance is demonstrated.", "modalities": ["x-ray"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/case0-9740/fig/2.jpg"], "caption": "CT of the left wrist, sagittal view.", "detailed_caption": "Sagittal CT images of the left wrist show a minimally displaced fracture through the hook of the hamate. The remainder of the carpal bones were normal in appearance.", "modalities": ["ct"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/case0-9740/fig/3.jpg"], "caption": "CT of the left wrist, transaxial images.", "detailed_caption": "Transaxial CT images of the left wrist show a minimally displaced fracture through the hook of the hamate. The remainder of the carpal bones were normal in appearance.", "modalities": ["ct"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/case0-9740/fig/4.jpg"], "caption": "CT of the wrist, coronal view.", "detailed_caption": "Coronal CT of the wrist show positive ulnar variance and contour irregularity of the ulnar fovea. Mild sclerosis of the adjacent lunate and triquetrum suggests ulnarcarpal impaction.", "modalities": ["ct"]}], "diagnosis": "Hamate hook fracture.", "standardized_diagnosis": [{"original_term": "Hamate hook fracture", "corrected_term": null, "code": "NC53.Z&XA97A0", "title": "hand fracture NOS[Hook of hamate]", "chapter": "Injury, poisoning or certain other consequences of external causes", "primary": true}]}, "year": 1976, "classification": "Orthopedic and connective tissue disorders"}
+{"pmid": "case1-13818", "patient_info": {"basic_info": "Asymptomatic 64-year-old male patient. Routine chest X-ray is performed.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case1-13818/fig/1.jpg"], "caption": "Abdominal X-ray.", "detailed_caption": "Abdominal X-ray showed diffuse sclerosis of the lumbar vertebrae, sacrum, iliac and femoral heads.", "modalities": ["x-ray"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/case1-13818/fig/2.jpg"], "caption": "CT scan.", "detailed_caption": "CT scan shows the same findings already noted previously at the plain radiographic studies: diffuse bone sclerosis.", "modalities": ["ct"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/case1-13818/fig/3.jpg"], "caption": "CT scan, sagittal view, multiplanar reformation (MPR).", "detailed_caption": "Sagittal CT scan MPR reformation showing diffuse vertebral sclerosis.", "modalities": ["ct"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/case1-13818/fig/4.jpg"], "caption": "CT scan of the spine, sagittal multiplanar reformation (MPR).", "detailed_caption": "Figure 4 presents a sagittal CT scan multiplanar reformation (MPR) of the spine, demonstrating diffuse vertebral sclerosis.", "modalities": ["ct"]}], "diagnosis": "Systemic mastocytosis", "standardized_diagnosis": [{"original_term": "Systemic mastocytosis", "corrected_term": null, "code": "2A21.0Z", "title": "Systemic mastocytosis", "chapter": "Neoplasms", "primary": true}]}, "year": 1975, "classification": "Endocrine and metabolic disorders"}
+{"pmid": "case1-1625", "patient_info": {"basic_info": "The patient was admitted with suspected stroke. There was a history of changed mental behaviour and after admission she further focal seizures.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case1-1625/fig/1.jpg"], "caption": "FLAIR MRI of the brain.", "detailed_caption": "FLAIR sequence - diffuse signal enhancement in the right hemisphere with space occupying effect to the right ventricle.", "modalities": ["mri"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/case1-1625/fig/2.jpg"], "caption": "T2-weighted MRI.", "detailed_caption": "T2-weighted image corresponding to Fig. 1.", "modalities": ["mri"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/case1-1625/fig/3.jpg"], "caption": "MRI, T1-weighted sequence with IV gadolinium administration.", "detailed_caption": "On T1-weighting after administration of IV gadolinium no contrast enhancement is seen", "modalities": ["mri"]}], "diagnosis": "Fibrillary astrocytoma, WHO grade II", "standardized_diagnosis": [{"original_term": "Fibrillary astrocytoma, WHO grade II", "corrected_term": null, "code": "2A00.0Y", "title": "fibrillary astrocytoma of unspecified site", "chapter": "Neoplasms", "primary": true}]}, "year": 1975, "classification": "Neoplastic diseases"}
+{"pmid": "case-9545", "patient_info": {"basic_info": "A 20-year-old male patient with autoimmune hepatitis presented with worsening jaundice and pruritus. A MRCP was performed, which was compared with the previous 7-month-old MRCP scan. Lab parameters revealed elevated anti- nuclear antibodies along with raised s. bilirubin (8mg/dl) and ALP 305 IU/L.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case-9545/fig/1.jpg"], "caption": "MRCP of the liver obtained seven months prior to follow-up.", "detailed_caption": "Figure 1 presents a magnetic resonance cholangiopancreatography (MRCP) image of the liver obtained seven months prior to follow-up, demonstrating normal appearance of the central intrahepatic and extrahepatic bile ducts, with only a very subtle beaded appearance of the peripheral intrahepatic biliary radicles (IHBR), without overt dilatation or strictures.", "modalities": ["mri"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/case-9545/fig/2.jpg"], "caption": "MRCP, follow-up examination.", "detailed_caption": "Followup MRCP reveals obvious beading and dilatation of the peripheral IHBR with suggestion of stricture of the right posterior sectoral duct near its ostium with upstream dilatation.", "modalities": ["mri"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/case-9545/fig/3.jpg"], "caption": "MRCP, axial view.", "detailed_caption": "Axial MRCP obvious beading and dilatation of the peripheral biliary radicles with dilated right posterior sectoral duct.", "modalities": ["mri"]}], "diagnosis": "Autoimmune hepatitis / sclerosing cholangitis overlap syndrome", "standardized_diagnosis": [{"original_term": "Autoimmune hepatitis", "corrected_term": null, "code": "DB96.0", "title": "Autoimmune hepatitis", "chapter": "Diseases of the digestive system", "primary": false}, {"original_term": "Sclerosing cholangitis", "corrected_term": null, "code": "DB96.2Z", "title": "sclerosing cholangitis", "chapter": "Diseases of the digestive system", "primary": false}, {"original_term": "Overlap syndrome", "corrected_term": null, "code": "DA23.Z&XA4YW8", "title": "Barrett syndrome[Overlapping sites of oesophagus]", "chapter": "Diseases of the digestive system", "primary": true}]}, "year": 1976, "classification": "Gastrointestinal disorders"}
+{"pmid": "case1-18425", "patient_info": {"basic_info": "A 78-year-old male patient presented with worsening exertional dyspnea. Echocardiogram revealed signs of right ventricle dysfunction and elevation of pulmonary artery systolic pressure (PASP) to 81 mmHg (41 mmHg the year before), suggesting severe pulmonary hypertension (PH). Moderate tricuspid regurgitation was also noted. The patient underwent CT for further evaluation.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case1-18425/fig/1.jpg"], "caption": "(A–C) Axial CT pulmonary angiography (CTPA) of the chest.", "detailed_caption": "Axial CTPA images in a patient with CTEPH: a large eccentric thrombus in the right pulmonary artery (arrow on A) and multiple bilateral partial filling defects in lobar and segmental arteries with linear and web-like morphology, corresponding to intraluminal bands and webs (arrowhead on B and circles on C). These findings indicate organised residual thrombotic material in the pulmonary vascular bed.", "modalities": ["ct", "angiography"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/case1-18425/fig/2.jpg"], "caption": "(A) CT pulmonary angiography, axial oblique view, pulmonary trunk. (B) CT pulmonary angiography, axial maximum intensity projection. (C) CT pulmonary angiography, sagittal oblique maximum intensity projection.", "detailed_caption": "CTPA reconstructed images depicting signs of PH. A) Axial oblique image showing an enlarged pulmonary trunk. B) Axial maximum intensity projection (MIP) image reveals marked reduction in size of the right lower lobe arteries in comparison with contralateral arteries. C) Sagittal oblique MIP image shows an enlarged and tortuous bronchial artery (arrow).", "modalities": ["ct", "angiography"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/case1-18425/fig/3.jpg"], "caption": "(A) ECG-gated CT pulmonary angiography, axial view. (B) ECG-gated CT pulmonary angiography, axial maximum intensity projection (MIP). (C) ECG-gated CT pulmonary angiography, axial view, diastolic phase. (D) ECG-gated CT pulmonary angiography, right ventricular outflow view, diastolic phase.", "detailed_caption": "ECG-gated CTPA images showing right-sided heart abnormalities secondary to CTEPH. A) Axial image with dilatation of right cardiac chambers. B) Axial MIP image at a lower level showing opacilitation of hepatic veins due to retrograde flow of contrast material. C) and D) Images of axial and right ventricular outflow view, respectively, in diastolic phase reveal right ventricle hypertrophy and prominent trabecular pattern (arrows).", "modalities": ["ct", "angiography"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/case1-18425/fig/4.jpg"], "caption": "(A) Lung ventilation scintigraphy. (B) Lung perfusion scintigraphy. (C) V/Q quotient imaging. (D) Coronal CT pulmonary angiography (CTPA), minimum intensity projection (MinIP).", "detailed_caption": "Lung V/Q scintigraphy revealing mismatched segmental perfusion defects in the right lower lobe, which has normal ventilation (A, ventilation; B, perfusion; C, V/Q quotient). D) Coronal CTPA minimum intensity projection (MinIP) image with correspondent decreased lung attenuation in the affected segments (circle).", "modalities": ["pet/spect/nuclear", "ct", "angiography"]}], "diagnosis": "Chronic thromboembolic pulmonary hypertension", "standardized_diagnosis": [{"original_term": "Chronic thromboembolic pulmonary hypertension", "corrected_term": null, "code": "BB01.3", "title": "Chronic thromboembolic pulmonary hypertension", "chapter": "Diseases of the circulatory system", "primary": true}]}, "year": 1975, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "case1-6799", "patient_info": {"basic_info": "A 10-year-old boy presenting with knee pain. Plain radiographs were performed", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case1-6799/fig/1.jpg"], "caption": "Plain radiograph (X-ray) of the knee, lateral view.", "detailed_caption": "Figure 1 shows a plain radiograph of the knee demonstrating fragmentation at the inferior pole of the patella, indicative of osteochondrosis. The imaging modality is conventional radiography (X-ray) in the lateral view, examining the knee joint with specific focus on the inferior patellar pole, which corresponds to the site of pain and clinical findings at presentation in a 10-year-old boy.", "modalities": ["x-ray"]}], "diagnosis": "Sinding-Larsen-Johansson disease", "standardized_diagnosis": [{"original_term": "Sinding-Larsen-Johansson disease", "corrected_term": null, "code": "FB82.1", "title": "Sinding-Larsen-Johansson disease", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": true}]}, "year": 1975, "classification": "Orthopedic and connective tissue disorders"}
+{"pmid": "case1-17053", "patient_info": {"basic_info": "A 27-year-old male patient presented with complaints of exertional dyspnea and dry cough for a duration of 2 weeks. History of loss of weight was present.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case1-17053/fig/1.jpg"], "caption": "Chest X-ray, mediastinum (anterior compartment).", "detailed_caption": "Figure 1 consists of a scout chest radiograph demonstrating a right anterior mediastinal mass lesion with mild displacement of the mediastinum to the left. The imaging modality is a plain chest X-ray (scout film), the anatomical site examined is the mediastinum, specifically the anterior compartment, and the key finding is a right anterior mediastinal mass causing mild shift of mediastinal structures toward the left. No acquisition timing beyond the initial work-up is specified, and no special views, staining, or magnification are applicable to this modality.", "modalities": ["x-ray"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/case1-17053/fig/2.jpg"], "caption": "CT of the mediastinum, axial view.", "detailed_caption": "Plain axial CT image shows right anterior mediastinal soft tissue density lesion with heterodense areas.", "modalities": ["ct"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/case1-17053/fig/3.jpg"], "caption": "Contrast-enhanced CT, axial view, right anterior mediastinum.", "detailed_caption": "Contrast-enhanced CT axial image shows heterogenous enhancement of soft tissue density lesion in right anterior mediastinum", "modalities": ["ct"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/case1-17053/fig/4.jpg"], "caption": "Contrast-enhanced CT of the anterior mediastinum, axial view.", "detailed_caption": "Contrast-enhanced CT axial image shows heterogenously enhancing soft tissue density lesion in right anterior mediastinum with displacement of mediastinal structures.", "modalities": ["ct"]}, {"type": "fig", "id": 5, "subfig": null, "path": ["images/case1-17053/fig/5.jpg"], "caption": "Contrast-enhanced CT of the right anterior mediastinum, axial view.", "detailed_caption": "Contrast-enhanced CT axial image shows heterogenously enhancing soft tissue density lesion in right anterior mediastinum with mild compression of superior vena cava.", "modalities": ["ct"]}], "diagnosis": "Mediastinal extra skeletal Ewing's sarcom", "standardized_diagnosis": [{"original_term": "Extraskeletal Ewing's sarcoma", "corrected_term": null, "code": "2B52.Y", "title": "Extraosseous Ewing sarcoma", "chapter": "Neoplasms", "primary": true}]}, "year": 1975, "classification": "Neoplastic diseases"}
+{"pmid": "case1-10761", "patient_info": {"basic_info": "A 16-year-old girl known for unsteadiness, recurrent falls, cognitive decline and visual problems was referred for a brain MRI. Her mother has a history of balance problems associated with retinopathy since the age of 30 and her maternal grandmother also developed balance difficulties later in life.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case1-10761/fig/1.jpg"], "caption": "Noncontrast sagittal brain MRI.", "detailed_caption": "Figure 1 demonstrates a noncontrast sagittal brain MRI showing marked atrophy of the pons and inferior cerebellar vermis, as well as moderate atrophy of the midbrain and medulla oblongata, with no signs of atrophy in the cerebrum.", "modalities": ["mri"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/case1-10761/fig/2.jpg"], "caption": "CT or MRI of the posterior fossa, showing the inferior cerebellar vermis.", "detailed_caption": "Slice through the posterior fossa shows atrophy of the inferior cerebellar vermis. The cerebrum and cerebellar hemispheres show no signs of atrophy.", "modalities": ["ct", "mri"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/case1-10761/fig/3.jpg"], "caption": "Axial brain MRI.", "detailed_caption": "Figure 3 presents an axial brain MRI demonstrating significant atrophy of the pons and middle cerebellar peduncles.", "modalities": ["mri"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/case1-10761/fig/4.jpg"], "caption": "MRI of the brain, coronal view, T1-weighted sequence, posterior fossa region.", "detailed_caption": "Figure 4a presents a coronal T1-weighted MRI image of the brain demonstrating symmetrical atrophy of the superior cerebellar peduncles. This image focuses on the posterior fossa region, and illustrates the involvement of the superior cerebellar peduncles without evidence of additional abnormalities or specific findings outside this structure.", "modalities": ["mri"]}, {"type": "fig", "id": 5, "subfig": null, "path": ["images/case1-10761/fig/5.jpg"], "caption": "MRI of the posterior fossa, slice through the pons.", "detailed_caption": "Slice through the posterior fossa shows a small hyperintensity in the pons due to degeneration of transverse pontine fibres.", "modalities": ["mri"]}], "diagnosis": "Spinocerebellar ataxia type", "standardized_diagnosis": [{"original_term": "Spinocerebellar ataxia", "corrected_term": null, "code": "8A03.16", "title": "Spinocerebellar ataxia", "chapter": "Diseases of the nervous system", "primary": true}]}, "year": 1975, "classification": "Neurological disorders"}
+{"pmid": "case0-7744", "patient_info": {"basic_info": "The patient was a 53 year old male with a previous stroke.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case0-7744/fig/1.jpg"], "caption": "CT of the mid-lung, trans-axial view, lung window.", "detailed_caption": "Trans-axial mid-lung CT image as seen on the lung window.", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/case0-7744/fig/2.jpg"], "caption": "CT of the lung, trans-axial view, soft tissue window.", "detailed_caption": "Trans-axial mid-lung CT image as seen on soft tissue window.", "modalities": ["ct"]}], "diagnosis": "Lipoid Pneumonia", "standardized_diagnosis": [{"original_term": "Lipoid pneumonia", "corrected_term": null, "code": "CA71.3", "title": "Lipoid pneumonia", "chapter": "Diseases of the respiratory system", "primary": true}]}, "year": 1976, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "case1-18698", "patient_info": {"basic_info": "The first patient, a 3-month-old girl baby presented with recurrent episodes of abnormal tonic posturing, frothing, and abnormal blinking of eyes since the 22nd day of her life. Clinical examination demonstrated abnormal facial morphological features like prominent premaxilla and sparse lateral eyebrows.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case1-18698/fig/1.jpg"], "caption": "MRI, midsagittal view, T2-weighted sequence, brain.", "detailed_caption": "Midsagittal T2-weighted MR image shows agenesis of the corpus callosum with a high- riding third ventricle and a large dorsal interhemispheric cyst. The cingulate gyrus and sulcus are absent, with a sunburst appearance of radiating gyri. The tectum is normal in size.", "modalities": ["mri"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/case1-18698/fig/2.jpg"], "caption": "Axial T2-weighted MRI of the brain.", "detailed_caption": "Axial T2-weighted MR image shows a large T2 hyperintense bilobed interhemispheric cyst with a thin internal septation. Nodular areas with grey matter signal intensity are noted in the subependymal region of the left lateral ventricular body, indicating sub-ependymal heterotopia. Polymicrogyria markedly noted in the left frontal lobe.", "modalities": ["mri"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/case1-18698/fig/3.jpg"], "caption": "3D T2-weighted FSE coronal reformatted MRI of the brain.", "detailed_caption": "3D T2-weighted FSE coronal reformatted MR image displays the left cerebral hemi- atrophy with features of polymicrogyria. It shows a classical “Viking helmet” sign suggestive of corpus callosal agenesis. An unilobulated T2 hyperintense inter-hemispheric cyst is noted.", "modalities": ["mri"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/case1-18698/fig/4.jpg"], "caption": "Axial T2-weighted MRI of the left posterior globe.", "detailed_caption": "Axial T2-weighted MRI image shows a focal defect in the left posterior globe with a well- defined T2 hyperintense retro-bulbar cystic focus, abutting the optic nerve, causing mild proptosis (coloboma).", "modalities": ["mri"]}, {"type": "fig", "id": 5, "subfig": null, "path": ["images/case1-18698/fig/5.jpg"], "caption": "Axial T2-weighted MRI of the brain.", "detailed_caption": "Axial T2-weighted MR image displays left cerebral hemi-atrophy with sub-cortical grey matter heterotopia and callosal agenesis with colpocephaly.", "modalities": ["mri"]}], "diagnosis": "Aicardi syndrome", "standardized_diagnosis": [{"original_term": "Aicardi syndrome", "corrected_term": null, "code": "LD20.Y", "title": "Aicardi syndrome", "chapter": "Developmental anomalies", "primary": true}]}, "year": 1975, "classification": "Neurological disorders"}
+{"pmid": "o0000013", "patient_info": {"basic_info": "Patient is a 2 month-old male, full-term infant, with severe malnutrition and failure to thrive, admitted to the intensive care unit, with long term feeding difficulties. The study was performed initially to rule out malrotation.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/o0000013/fig/1.jpg"], "caption": "Upper GI series radiograph of the duodenum.", "detailed_caption": "Spot images from an upper GI series demonstrate abrupt caliber change at the junction of the second and the third portion of the duodenum, with the second portion markedly dilated. There is a rather prominent tubular impression at this transition point, which is the impression made by the superior mesenteric artery. Note that the ligament of Treitz is in its normal location, ruling out malrotation.", "modalities": ["x-ray"]}], "diagnosis": "superior mesenteric artery syndrome", "standardized_diagnosis": [{"original_term": "Superior mesenteric artery syndrome", "corrected_term": null, "code": "LB14", "title": "congenital superior mesenteric artery syndrome", "chapter": "Diseases of the digestive system", "primary": true}]}, "year": 1975, "classification": "Gastrointestinal disorders"}
+{"pmid": "case1-18404", "patient_info": {"basic_info": "A 23-year-old female presented with a complaint of intermittent dyspnea (New York Heart Association NYHA grade, II), which aggravates on exertion and mild chest pain. No past significant medical and surgical history was given by the patient. On clinical examination, bruit was heard on auscultation in the left mid-zone.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case1-18404/fig/1.jpg"], "caption": "Chest X-ray.", "detailed_caption": "Chest X-ray", "modalities": ["x-ray"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/case1-18404/fig/2.jpg"], "caption": "CT pulmonary angiography, axial maximum intensity projection.", "detailed_caption": "CTPA with axial MIP image", "modalities": ["ct", "angiography"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/case1-18404/fig/3.jpg"], "caption": "CT pulmonary angiography, coronal maximum intensity projection.", "detailed_caption": "CTPA with coronal MIP image", "modalities": ["ct", "angiography"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/case1-18404/fig/4.jpg"], "caption": "CT volume rendering multiplanar reformatted image of the pulmonary vessels.", "detailed_caption": "Figure 4 presents a volume rendering multiplanar reformatted image obtained by CT, demonstrating the vascular anatomy of a pulmonary arteriovenous malformation in the lung, with clear visualization of the vascular communications including the origin and termination of the lesion, thereby confirming the diagnosis of pulmonary arteriovenous malformation; the anatomical focus is the pulmonary vessels, and the image was acquired as part of a multimodality chest imaging assessment at the Department of Radiodiagnosis, Mahatma Gandhi University of Medical Sciences and Technology, Jaipur, with no specific mention of the timing beyond its role in diagnostic confirmation.", "modalities": ["ct"]}], "diagnosis": "Pulmonary arteriovenous malformation", "standardized_diagnosis": [{"original_term": "Pulmonary arteriovenous malformation", "corrected_term": null, "code": "LA90.5", "title": "Pulmonary arteriovenous malformation", "chapter": "Developmental anomalies", "primary": true}]}, "year": 1975, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "o0000016", "patient_info": {"basic_info": "52-year-old female with AML and persistent fevers on chemotherapy. Patient presented to the emergency room with fever.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/o0000016/fig/1.jpg"], "caption": "Chest radiograph, frontal view.", "detailed_caption": "Frontal view of the chest demonstrates diffuse bilateral patchy air space opacities. Pleural effusions are not evident on this image. A right-sided tunneled catheter is present.", "modalities": ["x-ray"]}], "diagnosis": "Adult Respiratory Distress Syndrome", "standardized_diagnosis": [{"original_term": "Adult Respiratory Distress Syndrome", "corrected_term": null, "code": "CB00", "title": "adult respiratory distress syndrome", "chapter": "Diseases of the respiratory system", "primary": true}]}, "year": 1975, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "o0000001", "patient_info": {"basic_info": "45 year old hispanic male with a 3 month history of progressively worsening pain in the right shoulder.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/o0000001/fig/1.jpg"], "caption": "Frontal radiograph of the right shoulder, internal rotation.", "detailed_caption": "Frontal radiograph of the right shoulder in internal rotation showing several flocculent calcific densities lateral and posterior to the right humeral head.", "modalities": ["x-ray"]}], "diagnosis": "Tumoral Calcinosis", "standardized_diagnosis": [{"original_term": "Tumoral calcinosis", "corrected_term": null, "code": "5C64.5", "title": "tumoural calcinosis", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": true}]}, "year": 1975, "classification": "Orthopedic and connective tissue disorders"}
+{"pmid": "o0000014", "patient_info": {"basic_info": "50 y/o female with three month history of weight loss and early satiety.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/o0000014/fig/1.jpg"], "caption": "Upper GI series, AP view.", "detailed_caption": "AP image from an upper GI series study.", "modalities": ["general imaging"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/o0000014/fig/2.jpg"], "caption": "CT, axial view, with contrast enhancement.", "detailed_caption": "Axial image from an enhanced CT study.", "modalities": ["ct"]}], "diagnosis": "Superior Mesenteric Artery Syndrome", "standardized_diagnosis": [{"original_term": "Superior mesenteric artery syndrome", "corrected_term": null, "code": "LB14", "title": "congenital superior mesenteric artery syndrome", "chapter": "Diseases of the digestive system", "primary": true}]}, "year": 1975, "classification": "Gastrointestinal disorders"}
+{"pmid": "o0000011", "patient_info": {"basic_info": "Follow up radiographs for multiple osteochondromas.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/o0000011/fig/1.jpg"], "caption": "Frontal radiograph of both knees.", "detailed_caption": "Frontal radiograph of both knees demonstrates multiple osteochondromas projecting away from the knee joint. These metaphyseal lesions are seen on the distal femur and proximal tibia and fibula. The cortex and medullary space of the parent bone are continuous with that of the osteochondroma.", "modalities": ["x-ray"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/o0000011/fig/2.jpg"], "caption": "Frontal radiograph of the wrist.", "detailed_caption": "Frontal radiograph of wrist demonstrates multiple osteochondromas projecting away from the wrist joint. Lesions are seen on the metaphyses of the distal radius and ulna. The cortex and medullary space of the parent bone are continuous with that of the osteocondroma. There is associated shortening of the ulna.", "modalities": ["x-ray"]}], "diagnosis": "Multiple Hereditary Exostosis", "standardized_diagnosis": [{"original_term": "Multiple hereditary exostosis", "corrected_term": null, "code": "LD24.20", "title": "Multiple congenital exostoses", "chapter": "Developmental anomalies", "primary": true}]}, "year": 1975, "classification": "Orthopedic and connective tissue disorders"}
+{"pmid": "o0000015", "patient_info": {"basic_info": "Weight loss and abdominal pain/vomiting after eating", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/o0000015/fig/1.jpg"], "caption": "Supine upper gastrointestinal fluoroscopic image.", "detailed_caption": "Supine fluoroscopic image from upper GI demontrates dilation of the second portion of the duodenum and abrubt vertically oriented linear filling defect in the third portion with no passage of contrast", "modalities": ["general imaging"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/o0000015/fig/2.jpg"], "caption": "Prone abdominal radiograph after ten minute delay.", "detailed_caption": "Prone image after ten minute delay demonstrates persistent dilation of the second portion of the duodenum and abrupt vertically oriented filling defect in the third portion with no distal passage of contrast.", "modalities": ["x-ray"]}], "diagnosis": "Superior Mesenteric Artery Syndrome", "standardized_diagnosis": [{"original_term": "Superior Mesenteric Artery Syndrome", "corrected_term": null, "code": "LB14", "title": "congenital superior mesenteric artery syndrome", "chapter": "Diseases of the digestive system", "primary": true}]}, "year": 1975, "classification": "Gastrointestinal disorders"}
+{"pmid": "case1-7605", "patient_info": {"basic_info": "A 12 year old girl with congenital aqueductal stenosis presented with nausea, vomiting and headache and neck pain. Imaging Findings:", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case1-7605/fig/1.jpg"], "caption": "MRI of the brain, coronal view, T2-weighted sequence, posterior fossa.", "detailed_caption": "Figure 1 depicts a coronal T2-weighted MRI image of the brain demonstrating continuous transverse folia of the cerebellum, indicative of rhombencephalosynapsis, with the anatomical site being the posterior fossa; the image highlights the fusion of cerebellar hemispheres and absence of the vermian separation, but does not specify scan timing or further acquisition parameters.", "modalities": ["mri"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/case1-7605/fig/2.jpg"], "caption": "Axial T2-weighted MRI of the posterior fossa.", "detailed_caption": "Figure 2 shows an axial T2-weighted MRI image of the posterior fossa demonstrating absence of the cerebellar vermis, a box-shaped fourth ventricle, fusion of dentate nuclei as indicated by black arrows, and fusion of the cerebellar hemispheres.", "modalities": ["mri"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/case1-7605/fig/3.jpg"], "caption": "Sagittal T2-weighted MRI of the brain.", "detailed_caption": "Figure 3a on page 5 is a sagittal T2-weighted MRI of the brain demonstrating that the fastigial recess of the fourth ventricle (indicated by a black arrow) is round in shape, whereas it is normally sharp, and also showing the presence of tonsillar herniation.", "modalities": ["mri"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/case1-7605/fig/4.jpg"], "caption": "MRI of the brain, midsagittal view, T1-weighted.", "detailed_caption": "Figure 4 depicts a midsagittal T1-weighted MRI image of the brain, demonstrating hypoplasia of the corpus callosum and cerebellar tonsillar herniation.", "modalities": ["mri"]}], "diagnosis": "Rhombencephalosynapsis", "standardized_diagnosis": [{"original_term": "Rhombencephalosynapsis", "corrected_term": null, "code": "LA06.Y", "title": "Rhombencephalosynapsis", "chapter": "Developmental anomalies", "primary": true}]}, "year": 1975, "classification": "Neurological disorders"}
+{"pmid": "case1-9618", "patient_info": {"basic_info": "A 29-year-old woman with no significant medical history presented with a rapidly growing and painful left breast mass.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case1-9618/fig/1.jpg"], "caption": "Colour-Doppler ultrasound.", "detailed_caption": "On colour-doppler US the solid components of the lesion were vascularised.", "modalities": ["ultrasound"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/case1-9618/fig/2.jpg"], "caption": "Ultrasound of a cystic mass.", "detailed_caption": "Ultrasound showed a large complex cystic mass with circumscribed, partially microlobulated margins.", "modalities": ["ultrasound"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/case1-9618/fig/3.jpg"], "caption": "Mammography of the left breast, craniocaudal (CC) and oblique mediolateral (OML) views.", "detailed_caption": "CC and OML mammograms revealed a large, round, high density mass in the upper outer quadrant of the left breast, mostly circumscribed with partially ill defined margins and without microcalcifications.", "modalities": ["general imaging"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/case1-9618/fig/4.jpg"], "caption": "MRI, T2-weighted sequence.", "detailed_caption": "On T2-WI the lesion was round, lobulated and heterogeneous with central hyperintense necrotic component and a peripheral irregular solid component, measuring 7.5 x 6.5 cm2.", "modalities": ["mri"]}, {"type": "fig", "id": 5, "subfig": null, "path": ["images/case1-9618/fig/5.jpg"], "caption": "(A) Contrast-enhanced imaging, early phase. (B) Contrast-enhanced imaging, delayed phase.", "detailed_caption": "The peripheral solid component of the mass revealed rapid and heterogeneous enhancement at early phase after intravenous contrast administration (A) with wash-out in the delayed phase (B).", "modalities": ["general imaging"]}], "diagnosis": "Metaplastic breast carcinoma with squamous cell carcinoma differentiation", "standardized_diagnosis": [{"original_term": "Metaplastic breast carcinoma", "corrected_term": null, "code": "2C6Y&XH0RD4", "title": "Metaplastic carcinoma of breast", "chapter": "Neoplasms", "primary": true}, {"original_term": "Squamous cell carcinoma of breast", "corrected_term": null, "code": "2C6Y&XH63D2", "title": "Breast carcinoma NOS", "chapter": "Neoplasms", "primary": false}]}, "year": 1975, "classification": "Neoplastic diseases"}
+{"pmid": "o0000032", "patient_info": {"basic_info": "Two-day history of nausea, anorexia, and abdominal pain.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/o0000032/fig/1.jpg"], "caption": "Grayscale ultrasound of the right lower quadrant.", "detailed_caption": "Grayscale sonographic image of the right lower quadrant, which demonstrates a blind-ended tubular structure.", "modalities": ["ultrasound"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/o0000032/fig/2.jpg"], "caption": "(A) Grayscale sonographic image of the appendix, transverse plane, with compression. (B) Grayscale sonographic image of the appendix, transverse plane, without compression.", "detailed_caption": "Grayscale sonographic images with and without compression of the appendix in transverse plane demonstrating lack of compressibility.", "modalities": ["ultrasound"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/o0000032/fig/3.jpg"], "caption": "Sonographic imaging of the appendix, grayscale mode, width=8 mm.", "detailed_caption": "Grayscale sonographic image through the appendix demonstrating width of 8mm and loss of central echogenicity.", "modalities": ["ultrasound"]}], "diagnosis": "Acute Appendicitis", "standardized_diagnosis": [{"original_term": "Acute appendicitis", "corrected_term": null, "code": "DB10.0", "title": "Acute appendicitis", "chapter": "Diseases of the digestive system", "primary": true}]}, "year": 1975, "classification": "Gastrointestinal disorders"}
+{"pmid": "o0000049", "patient_info": {"basic_info": "23 yo soldier (OIF) s/p multiple IED blasts without clear evidence of LOC.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/o0000049/fig/1.jpg"], "caption": "Axial PET scan of the brain with scalp muscles, F18-FDG.", "detailed_caption": "Axial PET images of brain with the scalp muscles demonstrating F18-FDG metabolism that is more intense than the gray matter.", "modalities": ["pet/spect/nuclear"]}], "diagnosis": "Traumatic Brain Injury", "standardized_diagnosis": [{"original_term": "Traumatic brain injury", "corrected_term": null, "code": "NA07.Z", "title": "traumatic brain injury NOS", "chapter": "Injury, poisoning or certain other consequences of external causes", "primary": true}]}, "year": 1975, "classification": "Neurological disorders"}
+{"pmid": "case0-629", "patient_info": {"basic_info": "A male 2nd world war veteran had a head CT after a motor vehicle accident", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case0-629/fig/1.jpg"], "caption": "CT of the head.", "detailed_caption": "Head CT: Bilateral partially calcified auricular cartilages.", "modalities": ["ct"]}], "diagnosis": "Auricular calcification", "standardized_diagnosis": [{"original_term": "Auricular calcification", "corrected_term": null, "code": "AA41.Y", "title": "Auricular cartilage calcification", "chapter": "Diseases of the ear or mastoid process", "primary": true}]}, "year": 1975, "classification": "Endocrine and metabolic disorders"}
+{"pmid": "o0000036", "patient_info": {"basic_info": "77 year-old man with right upper quadrant pain and microhematuria.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/o0000036/fig/1.jpg"], "caption": "CT of the abdomen, axial view.", "detailed_caption": "Axial CT of abdomen shows a markedly thickened (>3 mm) and gallbladder wall. The known calculus at the gallbladder neck is not visualized.", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/o0000036/fig/2.jpg"], "caption": "CT with contrast, axial view, gallbladder wall thickness >3 mm.", "detailed_caption": "Axial CT with contrast shows a markedly thickened (>3 mm) and enhancing gallbladder wall.", "modalities": ["ct"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/o0000036/fig/3.jpg"], "caption": "Ultrasound of the right upper quadrant.", "detailed_caption": "Longitudinal ultrasound of right upper quadrant shows the gall bladder with thickened wall and a biliary calculus with acoustic shadowing within the gallbladder neck.", "modalities": ["ultrasound"]}], "diagnosis": "Acute calculous cholecystitis", "standardized_diagnosis": [{"original_term": "Acute calculous cholecystitis", "corrected_term": null, "code": "DC11.0&XA0077", "title": "biliary calculus with acute cholecystitis", "chapter": "Diseases of the digestive system", "primary": true}]}, "year": 1975, "classification": "Gastrointestinal disorders"}
+{"pmid": "o0000030", "patient_info": {"basic_info": "35 yo male with soccer injury", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/o0000030/fig/1.jpg"], "caption": "Sagittal T1-weighted MRI of the knee.", "detailed_caption": "Sag T1 image demonstrates complete disruption of the ACL. No normal low signal intensity fibers are seen. Moderate to large joint effusion.", "modalities": ["mri"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/o0000030/fig/2.jpg"], "caption": "Sagittal T2 fat-saturated MRI of the knee.", "detailed_caption": "Sag T2 fat sat image demonstrates complete disruption of the ACL. Increased signal intensity within the disrupted fibers of ACL is present. Moderate to large joint effusion.", "modalities": ["mri"]}], "diagnosis": "ACL tear", "standardized_diagnosis": [{"original_term": "Anterior cruciate ligament tear", "corrected_term": null, "code": "NC93.62", "title": "tear of ACL - [anterior cruciate ligament]", "chapter": "Injury, poisoning or certain other consequences of external causes", "primary": true}]}, "year": 1975, "classification": "Orthopedic and connective tissue disorders"}
+{"pmid": "o0000037", "patient_info": {"basic_info": "Acute onset of stomach and back pain. Previously healthy female.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/o0000037/fig/1.jpg"], "caption": "Frontal radiograph of the abdomen.", "detailed_caption": "Fronatal radiograph shows multiple radiopaque stones in the expected region of the gallbladder.", "modalities": ["x-ray"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/o0000037/fig/2.jpg"], "caption": "Ultrasound of the gallbladder.", "detailed_caption": "US shows multiple echogenic stones with posterior shadowing in the gallbladder. The gallbladder wall is thickened.", "modalities": ["ultrasound"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/o0000037/fig/3.jpg"], "caption": "Ultrasound of the gallbladder.", "detailed_caption": "US shows multiple echogenic stones with posterior shadowing in the gallbladder.", "modalities": ["ultrasound"]}], "diagnosis": "Acute calculous cholecystitis", "standardized_diagnosis": [{"original_term": "Acute calculous cholecystitis", "corrected_term": null, "code": "DC11.0&XA0077", "title": "biliary calculus with acute cholecystitis", "chapter": "Diseases of the digestive system", "primary": true}]}, "year": 1975, "classification": "Gastrointestinal disorders"}
+{"pmid": "o0000034", "patient_info": {"basic_info": "12 year-old boy presents with acute right lower quadrant pain.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/o0000034/fig/1.jpg"], "caption": "Ultrasound of the right lower quadrant, longitudinal view, diameter of tubular structure measured at 8 mm.", "detailed_caption": "Gray-scale longitundal sonographic image through the right lower quadrant shows an inflamed appendix. This dilated, fluid-filled, noncompressible, blind-ending tubular structure measured 8 mm in diameter, with increased periappendieal echogenicity representing infiltration of mesenteric fat.", "modalities": ["ultrasound"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/o0000034/fig/2.jpg"], "caption": "Transverse sonographic image of the right lower quadrant.", "detailed_caption": "Gray-scale transverse sonographic image through the right lower quadrant shows an inflamed appendix. This dilated, fluid-filled, noncompressible, blind-ending tubular structure measured 8 mm in diameter, with increased periappendieal echogenicity representing infiltration of mesenteric fat. Additionally, note the target appearance caused by a fluid-filled lumen and an intact echogenic submucosal layer.", "modalities": ["ultrasound"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/o0000034/fig/3.jpg"], "caption": "Longitudinal color Doppler ultrasound of the appendix.", "detailed_caption": "Color Doppler longitudinal sonographic image through the inflamed appendix reveals marked hyperemia along the periphery.", "modalities": ["ultrasound"]}], "diagnosis": "Acute Appendicitis", "standardized_diagnosis": [{"original_term": "Acute appendicitis", "corrected_term": null, "code": "DB10.0", "title": "Acute appendicitis", "chapter": "Diseases of the digestive system", "primary": true}]}, "year": 1975, "classification": "Gastrointestinal disorders"}
+{"pmid": "case1-5664", "patient_info": {"basic_info": "Chest wall mass", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case1-5664/fig/1.jpg"], "caption": "PA chest radiograph.", "detailed_caption": "Fig 1: On PA chest radiograph, a large, well-marginated, expansile mass with sclerotic border originating from the right 8th rib was demonstrated.", "modalities": ["x-ray"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/case1-5664/fig/2.jpg"], "caption": "(A) MRI, axial view, FSE T2-weighted sequence. (B) MRI, coronal view, FSE T2-weighted sequence.", "detailed_caption": "Fig 2a,b: Axial and coronal FSE T2-weighted MR images show heterogeneous high signal intensity lesion that caused cortical thinning.", "modalities": ["mri"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/case1-5664/fig/3.jpg"], "caption": "(A) MRI, axial view, FSE T2-weighted sequence. (B) MRI, coronal view, FSE T2-weighted sequence.", "detailed_caption": "Fig 2a,b: Axial and coronal FSE T2-weighted MR images show heterogeneous high signal intensity lesion that caused cortical thinning.", "modalities": ["mri"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/case1-5664/fig/4.jpg"], "caption": "Axial T1-weighted MRI, fast field echo sequence.", "detailed_caption": "Fig 3: Axial fast field echo T1-weighted MR image shows largely isointense with areas of hypointensity lesion to the skeletal muscle which is expansile and medullary located.", "modalities": ["mri"]}, {"type": "fig", "id": 5, "subfig": null, "path": ["images/case1-5664/fig/5.jpg"], "caption": "Contrast-enhanced T1-weighted MRI, transverse view.", "detailed_caption": "Fig 4: Heterogeneous central and peripheral rim enhancement was shown on contrast- enhanced T1-weighted transverse MR image.", "modalities": ["mri"]}], "diagnosis": "Fibrous Dysplasia", "standardized_diagnosis": [{"original_term": "Fibrous dysplasia", "corrected_term": null, "code": "FB80.0", "title": "fibrous dysplasia, site unspecified", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": true}]}, "year": 1975, "classification": "Orthopedic and connective tissue disorders"}
+{"pmid": "o0000045", "patient_info": {"basic_info": "A 32 year-old male presented to his primary care provider with unremitting neck pain. He denied any history of trauma. The patient was unresponsive to conservative therapy and plain-film radiographic evaluation was negative. Patient was subsequently referred for a cervical spine MR for further evaluation.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/o0000045/fig/1.jpg"], "caption": "Sagittal T1-weighted MRI of the cervical spine.", "detailed_caption": "Sagittal T1WI of the cervical spine demonstrates a multilobulated mass in the inferior aspect of the fourth ventricle. The lesion is isointense to gray matter.", "modalities": ["mri"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/o0000045/fig/2.jpg"], "caption": "MRI of the cervical spine, sagittal view, T2-weighted imaging.", "detailed_caption": "Sagittal T2WI of the cervical spine demonstrates a multilobulated mass in the inferior aspect of the fourth ventricle. The lesion is of mixed iso/hypointensity when compared to gray matter. There are some small areas of low signal intensity suggestive of calcifications.", "modalities": ["mri"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/o0000045/fig/3.jpg"], "caption": "Brain MRI, axial view, T2-weighted imaging.", "detailed_caption": "Axial T2WI of the brain demonstrates a multilobulated mass in the fourth ventricle. The lesion is of mixed iso/hypointensity when compared to gray matter and demonstrates a small focus of very low signal intensity consistent with an intralesional calcification.", "modalities": ["mri"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/o0000045/fig/4.jpg"], "caption": "Coronal contrast-enhanced T1-weighted MRI of the brain.", "detailed_caption": "Coronal contrast enhanced T1WI of the brain demonstrates a multilobulated mass in the fourth ventricle. The lesion shows scattered areas of enhancement.", "modalities": ["mri"]}], "diagnosis": "Ependymoma", "standardized_diagnosis": [{"original_term": "Ependymoma", "corrected_term": null, "code": "2A00.0Y", "title": "Ependymoma", "chapter": "Neoplasms", "primary": true}]}, "year": 1975, "classification": "Neurological disorders"}
+{"pmid": "o0000040", "patient_info": {"basic_info": "22 year old G1P1 presents with hemoptysis and shortness of breath for 1 day. She is 8 days post induced labor and delivery at 36 weeks due to pre-eclampsia and was discharged 2 days ago on beta blocker and clonidine patch.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/o0000040/fig/1.jpg"], "caption": "CT of the chest, enhanced.", "detailed_caption": "Enhanced CT chest demonstrates cardiac enlargement with dilated left ventricle.", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/o0000040/fig/2.jpg"], "caption": "CT of the chest with contrast.", "detailed_caption": "Enhanced CT chest demonstrates cardiac enlargement with dilated left ventricle and small bilateral pleural effusions.", "modalities": ["ct"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/o0000040/fig/3.jpg"], "caption": "CT of the chest, lung windows.", "detailed_caption": "Enhanced CT chest with lung windows demonstrates patchy areas of airspace consolidation bilaterally, compatible with diffuse alveolar hemorrhage.", "modalities": ["ct"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/o0000040/fig/4.jpg"], "caption": "Chest radiograph.", "detailed_caption": "Chest radiograph demonstrates cardiac enlargement and vascular prominence and opacity of the right lower lung.", "modalities": ["x-ray"]}], "diagnosis": "Peripartum cardiomyopathy", "standardized_diagnosis": [{"original_term": "Peripartum cardiomyopathy", "corrected_term": null, "code": "BC43.Z", "title": "Cardiomyopathy", "chapter": "Diseases of the circulatory system", "primary": true}]}, "year": 1975, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "N-10000000", "patient_info": {"basic_info": "A male full-term neonate was admitted to the hospital 4 hours after birth for ecchymosis and petechiae. The infant was delivered by cesarean section at 40+5 weeks gestation due to failed induction, with birth weight 4000g and Apgar scores of 10. Physical examination revealed stable vital signs, weight 3850g, length 52cm, head circumference 35cm. The infant was alert and responsive with no special facial features. Skin examination showed large areas of ecchymosis on the chest, back, and upper limbs, with ecchymosis at the hepatitis B vaccine and vitamin K1 injection sites, and scattered pinpoint hemorrhages on the buttocks and lower limbs. The umbilical cord ligation site showed no bleeding, and cardiac, pulmonary, abdominal, and neurological examinations were normal.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/N-10000000/fig/1.jpg"], "caption": "Genetic analysis, next-generation sequencing, vWF gene exon 28 c.3946G>A (p.Val1316Met).", "detailed_caption": "Next-generation sequencing results showing vWF gene exon 28 c.3946G>A (p.Val1316Met) heterozygous missense mutation in the patient, with both parents negative for this variant at the same locus", "modalities": ["genetic"]}], "diagnosis": "Type 2B von Willebrand disease", "standardized_diagnosis": [{"original_term": "Type 2B von Willebrand disease", "corrected_term": null, "code": "3B12", "title": "Von Willebrand disease type 2B", "chapter": "Diseases of the blood or blood-forming organs", "primary": true}]}, "year": 2025, "classification": "Infectious and immunologic disorders"}
+{"pmid": "case1-6598", "patient_info": {"basic_info": "A 34-year-old woman with a history of chronic urinary infections", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case1-6598/fig/1.jpg"], "caption": "CT scan of the pelvis, axial view, urinary bladder.", "detailed_caption": "Figure 1 presents an axial CT scan of the pelvis demonstrating hyperdensity and thickening of the urinary bladder wall, features which simulate a neoformation; the imaging specifically depicts the bladder as the anatomical site, with no details on scan timing beyond its use in the initial patient assessment for urinary symptoms, and the key finding is wall thickening with increased density suggestive of possible neoplastic infiltration.", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/case1-6598/fig/2.jpg"], "caption": "a histopathological section showing the histologic findings of the bladder lesion", "detailed_caption": "A: Figure 2a presents a histopathological section showing the histologic findings of the bladder lesion, although specific details such as staining technique and magnification are not provided in the caption on page 4; the image suggests a high-power field, likely stained with hematoxylin and eosin, revealing clusters of large cells with abundant cytoplasm and eccentric nuclei, characteristic of malakoplakia, but precise identification of microscopic features is limited by the available text.", "modalities": ["pathology"]}], "diagnosis": "Malakoplakia of the Bladder", "standardized_diagnosis": [{"original_term": "Malakoplakia of the bladder", "corrected_term": null, "code": "GC01.Y", "title": "Malakoplakia of bladder", "chapter": "Diseases of the genitourinary system", "primary": true}]}, "year": 1975, "classification": "Infectious and immunologic disorders"}
+{"pmid": "31289639", "patient_info": {"basic_info": "This case is a 26-year-old Chinese female patient who presented with a 2-year history of progressive weakness of lower limbs and scissors gait that began at age 24. As her gait abnormality progressed, she developed dysphagia and severe cognitive impairment with a mini-mental state examination (MMSE) score of 16/30. The spasticity was severe in the lower extremities and mild in the upper extremities. Physical examination revealed patellar clonus on the left side. Her birth history and developmental milestones were normal. She was initially classified as sporadic HSP, though genetic testing later revealed she had compound heterozygous mutations indicating autosomal recessive inheritance.", "supplementary_info": [{"type": "fig", "id": 3, "subfig": "A", "path": ["images/31289639/fig/1.jpg"], "caption": "(A) Brain MRI acquired after symptom onset, axial, coronal, and sagittal views, T2-weighted sequence.", "detailed_caption": "A: Figure 3 (A) shows axial, coronal, and sagittal brain MRI images of case 1 acquired after symptom onset, displaying T2-weighted sequences with red arrows indicating characteristic radiological findings. The images reveal the 'ears of the lynx' appearance and thinning of the corpus callosum, which are hallmark features associated with SPG11-related hereditary spastic paraplegia, but there is no mention of other brain regions being abnormal. The MRI modality, anatomical site (brain), and sequence (T2-weighted), as well as the specific findings (ears of the lynx appearance and corpus callosum thinning), are explicitly provided in the figure caption and body text (see page 7, figure and caption; clinical context in results section page 6).", "modalities": ["mri"]}, {"type": "fig", "id": 2, "subfig": "A", "path": ["images/31289639/fig/2.jpg"], "caption": "pedigree diagram, current patient marked as II. 2. It shows mutational status for SPG11 mutations (p.M245fs and p.F2343fs), \"+\" symbols indicate mutation carriers", "detailed_caption": "A: Figure 2 (A) presents the pedigree of Family 1 with hereditary spastic paraplegia, depicting the family members’ relationships, gender, and mutational status for SPG11 mutations (p.M245fs and p.F2343fs), where black symbols indicate affected individuals, \"+\" symbols indicate mutation carriers, and arrows designate the proband; this is a schematic genealogical diagram used for genetic segregation analysis rather than a clinical image, and it does not describe imaging, anatomical sites, or acquisition timing.", "modalities": ["genetic"]}, {"type": "tab", "id": 2, "subfig": null, "path": ["images/31289639/tab/3.jpg"], "caption": "Table presenting clinical data and genetic findings of hereditary spastic paraplegia patients with mutations in HSP-related genes.", "detailed_caption": "Table 2 presents the clinical data of hereditary spastic paraplegia (HSP) patients with mutations in HSP-related genes identified in this study, including details on sex, age at onset, disease duration, inheritance pattern, specific genes and variants (distinguishing known and novel mutations), variant type (homozygous or heterozygous), HSP phenotype (pure or complex), presence of neuropathy, upper and lower limb hyperreflexia, lower limb weakness, ankle clonus, Babinski sign, and additional clinical features such as dysarthria, mental retardation, tremor, visual impairment, depression, anxiety, Hoffmann sign, and nystagmus; this table systematically summarizes the genotype-phenotype correlations for eight cases, with each entry specifying the technical and clinical descriptors relevant to the individual mutations detected.", "modalities": ["clinical", "genetic"]}], "diagnosis": "Complex hereditary spastic paraplegia (HSP) due to compound heterozygous pathogenic mutations in SPG11 gene (p.M245fs and p.F2343fs)", "standardized_diagnosis": [{"original_term": "Complex hereditary spastic paraplegia", "corrected_term": null, "code": "8B44.01", "title": "Autosomal recessive complex hereditary spastic paraplegia", "chapter": "Diseases of the nervous system", "primary": true}]}, "year": 2019, "classification": "Neurological disorders"}
+{"pmid": "case1-9377", "patient_info": {"basic_info": "A female patient, 50 years old, non-Portuguese-speaking Eastern Europe immigrant, was referred to our institution because of a low stature (1.37 meters), with foreshortened skull base, short wide face and coarse dry skin. The laboratory analysis showed elevated TSH and low T4 levels with normal T3 levels suggesting primary hypothyroidism with residual hormonal production.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/case1-9377/fig/1.jpg"], "caption": "CE-CT of the base of tongue, axial view.", "detailed_caption": "CE-CT axial view: Slightly heterogeneously enhancing 2 cm nodule lying over the base of the tongue corresponding to ectopic thyroid tissue.", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/case1-9377/fig/2.jpg"], "caption": "CE-CT of the base of the tongue, axial view.", "detailed_caption": "CE-CT axial view: Slightly heterogeneously enhancing 2 cm nodule lying over the base of the tongue corresponding to ectopic thyroid tissue.", "modalities": ["ct"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/case1-9377/fig/3.jpg"], "caption": "CE-CT, coronal view.", "detailed_caption": "CE-CT coronal view: This reconstruction helps to better understand the anatomic relations of the enhancing ectopic thyroid and the base of the tongue.", "modalities": ["ct"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/case1-9377/fig/4.jpg"], "caption": "Contrast-enhanced computed tomography, sagittal plane.", "detailed_caption": "A: Contrast-enhanced computed tomography (CE-CT) in the sagittal plane demonstrates the presence of ectopic thyroid tissue located between the base of the tongue and the epiglottis.", "modalities": ["ct"]}, {"type": "fig", "id": 5, "subfig": null, "path": ["images/case1-9377/fig/5.jpg"], "caption": "CE-CT, sagittal view.", "detailed_caption": "CE-CT sagital view: The ectopic thyroid can be located between the base of the tongue and the epiglottis.", "modalities": ["ct"]}], "diagnosis": "Congenital hypothyroidism with cretinism and ectopic lingual thyroid tissue", "standardized_diagnosis": [{"original_term": "Congenital hypothyroidism", "corrected_term": null, "code": "5A00.0Z", "title": "Congenital hypothyroidism", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": true}, {"original_term": "Cretinism", "corrected_term": null, "code": "5B5K.3/8D40.3", "title": "cretinism", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": false}, {"original_term": "Ectopic lingual thyroid", "corrected_term": null, "code": "5A00.01", "title": "Thyroid ectopia", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": false}]}, "year": 1975, "classification": "Endocrine and metabolic disorders"}
+{"pmid": "23509309", "patient_info": {"basic_info": "10-year-old white female, competitive ice skater, presented with right knee pain in January 2010. Pain progressed to limit walking. In July 2010 after falling on right knee, presented to ER with severely swollen knee. No constitutional symptoms reported.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23509309/fig/1.jpg"], "caption": "MRI of the knee, osseous and soft tissue mass measuring 5.9 × 4.8 × 4.9 cm centered in the patella with marrow extension, and three additional subcutaneous lesions around the knee.", "detailed_caption": "MRI showed 5.9 x 4.8 x 4.9 cm osseous and soft tissue mass centered in patella with marrow extension and three similar subcutaneous lesions around knee", "modalities": ["mri"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/23509309/fig/2.jpg"], "caption": "(A) Biopsy specimen. (B) Biopsy specimen, immunohistochemistry for P63.", "detailed_caption": "Biopsy showed: (A) multinucleated osteoclast giant cells with large numbers of nuclei scattered among mononuclear tumor cells; (B) mononuclear tumor cells with nuclear reactivity for P63", "modalities": ["pathology"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/23509309/fig/3.jpg"], "caption": "CT scan of the chest, axial view, performed at diagnosis.", "detailed_caption": "Figure 3 presents an axial computed tomography (CT) scan of the chest performed at diagnosis, demonstrating innumerable, well-circumscribed pulmonary nodules consistent with metastatic dissemination of giant-cell tumor of bone.", "modalities": ["ct"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/23509309/fig/4.jpg"], "caption": "Intraoperative pathological section", "detailed_caption": "Figure 4 shows a histopathological section of metastatic giant-cell tumor of bone (GCTB) involving the lung; the image displays metastatic GCTB tissue in the lower right portion adjacent to normal lung parenchyma in the upper left, as described in the case report on page 1 and visualized on page 2. The slide type and staining are not explicitly stated for this figure, but the appearance and context indicate a routine light microscopy preparation of resected pulmonary tissue confirming metastatic GCTB.", "modalities": ["pathology"]}], "diagnosis": "Metastatic Giant-Cell Tumor of Bone (GCTB)", "standardized_diagnosis": [{"original_term": "Giant-cell tumor of bone", "corrected_term": null, "code": "2F9B", "title": "Giant cell tumour of bone unknown behaviour of unspecified site", "chapter": "Neoplasms", "primary": true}, {"original_term": "Bone metastasis", "corrected_term": null, "code": "2E03", "title": "bone metastasis", "chapter": "Neoplasms", "primary": false}]}, "year": 2013, "classification": "Neoplastic diseases"}
+{"pmid": "25045239", "patient_info": {"basic_info": "A 32-year-old woman presented to the clinic in June 2013 with complaints of easy fatigability, muscle cramps, and myoglobulinuria. Her family history was unremarkable. She recalled experiencing easy fatigability, muscle cramps, and contractures after intense exercise during physical education classes since early adolescence. She had several episodes of dark urine following intense exercise such as long-distance running, with symptoms of exercise intolerance aggravated one year prior to presentation. She reported marked improvement in exercise tolerance after about 20 minutes, described as the 'second-wind phenomenon', with improvement in excessive fatigue, breathlessness, and tachycardia. Physical examination showed no fixed muscle weakness or muscle atrophy, with all sensory modalities and tendon reflexes intact. Laboratory studies revealed a serum creatine kinase level of 1,161 IU/L at rest (normal < 215 IU/L). Nerve conduction study and needle electromyography showed no abnormalities at rest. Motor nerve conduction study on the ulnar nerve after voluntary maximal contraction for two minutes and 50 Hz nerve stimulations for one second showed no decrease in compound muscle action potential amplitudes, and EMG did not show silent electrical activities during muscle cramps.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/25045239/fig/1.jpg"], "caption": "pedigree chart, current patient marked as II. 3", "detailed_caption": "A: Figure 1 (A) presents a pedigree chart depicting a family affected by glycogen storage disease type V (GSD-V), with the proband indicated by an arrow and filled symbols denoting affected individuals; this figure illustrates the inheritance pattern but does not involve imaging, pathology, or laboratory modalities, anatomical site, or procedural timing.", "modalities": ["genetic"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/25045239/fig/2.jpg"], "caption": "Non-ischemic forearm exercise test, venous lactate and ammonia levels.", "detailed_caption": "Non-ischemic forearm exercise test showed no increase in venous lactate level with a normal increase in ammonia.", "modalities": ["lab"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/25045239/fig/3.jpg"], "caption": "Genetic analysis of PYGM gene.", "detailed_caption": "Sequencing chromatograms revealed compound heterozygous PYGM mutations: one allele had a frameshift mutation of c.1531delG (p.D510fs) in exon 13 and the other allele had a deletion mutation of c.2128_2130delTTC (p.F710del) in exon 17.", "modalities": ["genetic"]}], "diagnosis": "Glycogen storage disease type V (GSD-V)", "standardized_diagnosis": [{"original_term": "Glycogen storage disease type V", "corrected_term": null, "code": "5C51.3", "title": "Glycogen storage disease", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": true}]}, "year": 2014, "classification": "Endocrine and metabolic disorders"}
+{"pmid": "N-10000025", "patient_info": {"basic_info": "A male neonate, born at 36+1 weeks gestation via cesarean section due to scarred uterus and fetal heart rate deceleration, weighing 2700g with Apgar scores of 2-8-9. The infant experienced severe asphyxia at birth requiring intubation and chest compressions. After resuscitation, he presented with respiratory distress and difficulty breathing. Following extubation from mechanical ventilation on day 6, the patient developed recurrent inspiratory dyspnea and stridor. The infant had no relevant family history and no history of laryngeal or thoracic surgery.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/N-10000025/fig/1.jpg"], "caption": "Fiberoptic bronchoscopy performed on day 20 of life.", "detailed_caption": "Fiberoptic bronchoscopy performed on day 20 of life showing: epiglottis elevated well, arytenoid tissue hypertrophic, collapsing toward the subglottis during inspiration, aryepiglottic folds opening and closing well, membranous adhesion visible on both sides anterior to the vocal cords, vocal cord movement restricted, trachea patent with smooth mucosa, no fistula observed; carina normal with smooth mucosa, bilateral main bronchi openings normal, bilateral segmental bronchi openings normal with smooth and hyperemic mucosa, small amount of thin secretions observed and improved after saline lavage.", "modalities": ["endoscopy"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/N-10000025/fig/2.jpg"], "caption": "Laryngoscopy at 1 month and 7 days of life.", "detailed_caption": "Laryngoscopy performed at 1 month and 7 days of life showing: bilateral nasal cavity and nasopharynx with good ventilation and drainage, larynx with normal epiglottis, aryepiglottic folds, pyriform sinuses and ventricular folds morphology, no excess mucosal folds causing obstruction, bilateral vocal cords remained in midline position and fixed during crying, anterior-middle-posterior glottic gap present, posterior commissure width approximately 2-3mm, complete exclusion of glottic web type.", "modalities": ["endoscopy"]}], "diagnosis": "Bilateral vocal cord paralysis", "standardized_diagnosis": [{"original_term": "Bilateral vocal cord paralysis", "corrected_term": null, "code": "CA0H.0&XK9J", "title": "Paralysis of vocal cords or larynx[Bilateral]", "chapter": "Diseases of the respiratory system", "primary": true}]}, "year": 2023, "classification": "Neurological disorders"}
+{"pmid": "23460712", "patient_info": {"basic_info": "An 85-year-old obese white female presented to the emergency department with a 2-week history of constipation accompanied by intermittent crampy abdominal pain. She denied nausea, vomiting, fever, weight loss, or blood in stools. She had a remote history of endometriosis requiring total abdominal hysterectomy with bilateral salpingo-oophorectomy and had been taking estrogen 0.625 mg daily for 40 years. She had no known family history of cancer. On examination, she was not in distress with stable vital signs, BMI of 30.2 (weight 75 kg, height 62 inches), non-tender abdomen with a soft, large, palpable anterior pelvic mass. Pelvic examination revealed no vaginal lesions, bleeding, or discharge, and no signs of fecal impaction or rectal bleeding.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/23460712/fig/1.jpg"], "caption": "CT of the abdomen and pelvis.", "detailed_caption": "CT scan of the abdomen and pelvis revealed a 13 × 10 × 11-cm solid and cystic mass in close proximity with the sigmoid colon causing obstruction. The uterus and ovaries were not visualized and there were no noticeable signs of metastasis.", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/23460712/fig/2.jpg"], "caption": "Colonic histopathological section, CD10 immunohistochemistry.", "detailed_caption": "Figure 2 is a histopathological section from the colonic segment showing areas composed of sieve-like channels with abortive glandular arrangements and round-cell stroma, representing the endometrial stroma-like element of the tumor; the specimen was stained for CD10 immunohistochemistry, which highlights this stroma, and demonstrates the morphological biphasic pattern characteristic of Müllerian carcinosarcoma arising from intestinal endometriosis, as described in the text on page 1 and visually depicted in the image on page 1.", "modalities": ["pathology"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/23460712/fig/3.jpg"], "caption": "a histopathological image showing section of the bowel wall ", "detailed_caption": "Figure 3 is a histopathological image found on page 2, showing a section of the bowel wall containing foci of endometriosis intimately associated with a malignant Müllerian carcinosarcoma. The image demonstrates the anatomical site as the bowel wall, the analysis modality as histology, and likely employs hematoxylin and eosin (H&E) staining, as is standard for such diagnostic pathology slides, although the specific stain and magnification are not explicitly stated in the text. The figure highlights the presence of endometriotic tissue within the bowel wall adjacent to or involved by the malignant tumor, supporting the diagnosis of Müllerian carcinosarcoma arising from intestinal endometriosis.", "modalities": ["pathology"]}], "diagnosis": "Müllerian carcinosarcoma arising from intestinal endometriosis", "standardized_diagnosis": [{"original_term": "Müllerian carcinosarcoma", "corrected_term": null, "code": "2D4Y", "title": "Carcinosarcoma of unspecified site", "chapter": "Neoplasms", "primary": true}, {"original_term": "Intestinal endometriosis", "corrected_term": null, "code": "GA10.C1", "title": "Endometriosis of intestine", "chapter": "Diseases of the genitourinary system", "primary": false}]}, "year": 2013, "classification": "Neoplastic diseases"}
+{"pmid": "N-10000001", "patient_info": {"basic_info": "A 19-year-old woman presented with respiratory failure. Three weeks before presentation, she developed pain in the right shoulder and right flank and was evaluated at another hospital where testing for kidney stones and appendicitis was reportedly negative. Two weeks before presentation, dyspnea with exertion and nonproductive cough developed. She went on an 8-day vacation cruise with her family, during which her symptoms progressively worsened, preventing her from participating in activities. By the end of the cruise, she had severe dyspnea with walking and required a wheelchair. Upon presentation to the emergency department, she appeared ill with increased work of breathing, temporal temperature 37.1°C, heart rate 132 beats per minute, blood pressure 133/47 mm Hg, respiratory rate more than 40 breaths per minute, and oxygen saturation 88% on ambient air. A murmur was heard on cardiac examination. She had intermittent back pain beginning 6 months before presentation, asymptomatic SARS-CoV-2 infection 2 months before presentation, and a dental cleaning 5 weeks before presentation. During the cruise, she had two episodes of diarrhea without fever. She had visible chest pulsations during the 2 weeks before presentation and labored breathing while sleeping. Medical history included anxiety and anemia. She took supplemental iron and had no known drug allergies.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/N-10000001/tab/1.jpg"], "caption": "Laboratory test results on presentation at another hospital. And laboratory test results and arterial blood gas analysis on presentation at this hospital.", "detailed_caption": "Laboratory data on presentation at other hospital showed hemoglobin 9.1 g/dl, hematocrit 31.5%, mean corpuscular volume 66.7 fl, white-cell count 15,540 per μl with 72% neutrophils, platelet count 745,000 per μl, albumin 2.9 g/dl, lactate 0.2 mmol/liter, and N-terminal pro-B-type natriuretic peptide 24,913 pg per milliliter. On presentation at this hospital: hemoglobin 8.4 g/dl, hematocrit 28.4%, mean corpuscular volume 66.8 fl, white-cell count 15,690 per μl, platelet count 620,000 per μl, albumin 3.1 g/dl, lactate 1.3 mmol/liter, erythrocyte sedimentation rate 77 mm/hr, C-reactive protein 147.8 mg/liter. Arterial blood gases on fraction of inspired oxygen 0.70 showed pH 7.51, partial pressure of carbon dioxide 31 mm Hg, partial pressure of oxygen 206 mm Hg.", "modalities": ["lab"]}, {"type": "fig", "id": 1, "subfig": null, "path": ["images/N-10000001/fig/2.jpg"], "caption": "(A) ECG. (B) Transthoracic echocardiography, parasternal long-axis view. (C) Transthoracic echocardiography, parasternal short-axis view. (D) Transthoracic echocardiography, apical five-chamber view. (E) Transthoracic echocardiography, suprasternal notch view, color Doppler. (F) Transthoracic echocardiography, continuous-wave Doppler tracing.", "detailed_caption": "(A) ECG showed sinus tachycardia, borderline rightward axis, poor R-wave progression in leads V1 through V4, and nonspecific ST-segment and T-wave abnormalities. (B) Transthoracic echocardiography parasternal long-axis view showed dilated left ventricle and thickening of aortic-root walls. (C) Parasternal short-axis view showed tricuspid aortic valve and thickening of aortic-root walls. (D) Apical five-chamber view showed very large jet of severe aortic regurgitation. (E) Suprasternal notch view with color Doppler showed holodiastolic flow reversal in descending thoracic aorta. (F) Continuous-wave Doppler tracing confirmed holodiastolic flow reversal.", "modalities": ["electrophysiology", "ultrasound"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/N-10000001/fig/3.jpg"], "caption": "(A) CT angiography, curved planar reformatted image, arterial phase, descending aorta. (B-C) CT angiography, maximum-intensity-projection images, aortic arch and innominate artery, bilateral common carotid arteries, and right renal artery. (D-F) CT angiography, axial images, arterial phase, aortic root and ascending aorta, aortic arch vessels. (G) CT angiography, axial image, venous phase, abdominal aorta.", "detailed_caption": "(A) CT angiography curved planar reformatted image during arterial phase showed irregular contour of descending aorta. (B-C) Maximum-intensity-projection images showed luminal narrowing of partially visualized vessels of aortic arch including mild focal stenosis of innominate artery, diffuse narrowing of proximal bilateral common carotid arteries (severe on right, mild to moderate on left), and severe focal stenosis in right renal artery. (D-F) Axial images during arterial phase showed circumferential wall thickening in aorta at root and ascending segment, and in partially visualized proximal vessels of aortic arch. (G) Axial image during venous phase showed circumferential wall thickening in abdominal aorta with corresponding mural enhancement.", "modalities": ["ct", "angiography"]}], "diagnosis": "Takayasu's arteritis", "standardized_diagnosis": [{"original_term": "Takayasu's arteritis", "corrected_term": null, "code": "4A44.1", "title": "Takayasu arteritis", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": true}]}, "year": 2023, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "N-10000005", "patient_info": {"basic_info": "A 15-year-old girl presented with lower abdominal pain that began 6 weeks prior along the midline, was sharp and crampy, increased with movement, and decreased with lying down. The pain shifted from midline to the right side within 24 hours. On examination at the initial presentation, she had mild bilateral lower abdominal tenderness (greater on the right), a soft nondistended abdomen, normal bowel sounds, and no rebound or guarding. Laboratory findings showed leukocytosis (white-cell count 14,270 per microliter), anemia (hemoglobin 10.9 g/dl), and elevated C-reactive protein (5.9 mg/liter). The patient was discharged with a presumptive diagnosis of ruptured ovarian cyst. Six weeks later, she returned with recurrent similar abdominal pain and inability to attend school. She reported increased waist size over 2 weeks and difficulty fitting into pants. She had no fever, chills, night sweats, nausea, vomiting, anorexia, dysuria, hematuria, frequent urination, or vaginal bleeding/discharge. She had no notable medical history, took no medications, had no allergies, and had normal growth and development. Menarche had not occurred. Physical examination revealed a firm, distended right lower abdomen with mild tenderness. Development of pubic hair and breasts was Tanner stage 4. Laboratory findings showed worsening leukocytosis (16,120 per microliter) and anemia (hemoglobin 10.1 g/dl), with elevated C-reactive protein (27.7 mg/liter).", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/N-10000005/fig/1.jpg"], "caption": "(A) MRI pelvis, coronal T2-weighted image. (B) MRI pelvis, sagittal T2-weighted image, endometrial thickness=22 mm. (C) CT abdomen and pelvis with intravenous contrast, coronal reconstruction. (D) CT abdomen and pelvis with intravenous contrast, sagittal reconstruction.", "detailed_caption": "(A) MRI pelvis, coronal T2-weighted image showing a large, heterogeneous, round lesion with internal solid, mixed hypointense and hyperintense signal intensity and multiple internal cystic foci. (B) MRI pelvis, sagittal T2-weighted image showing endometrial hypertrophy (22 mm in thickness) and large-volume ascites. (C) CT abdomen and pelvis with intravenous contrast, coronal reconstruction showing the full extent of the large heterogeneous lesion with areas of nodular, solid enhancement and large-volume ascites. (D) CT abdomen and pelvis with intravenous contrast, sagittal reconstruction showing the lesion, ascites, and endometrial hypertrophy.", "modalities": ["mri", "ct"]}, {"type": "tab", "id": 1, "subfig": null, "path": ["images/N-10000005/tab/2.jpg"], "caption": "Laboratory results at 6 weeks before presentation and on current presentation.", "detailed_caption": "Laboratory data showing elevated white-cell count (14,270 at 6 weeks before current presentation, 16,120 on current presentation), neutrophilia (10,130 and 12,280 respectively), anemia (hemoglobin 10.9 and 10.1 g/dl respectively), elevated C-reactive protein (5.9 and 27.7 mg/liter respectively), and elevated erythrocyte sedimentation rate (19 mm/hr on current presentation).", "modalities": ["lab"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/N-10000005/fig/3.jpg"], "caption": "(A) Gross pathology of resected ovarian mass, size 18.0 cm. (B-D) H&E staining.", "detailed_caption": "(A) Gross pathology showing resected ovarian mass measuring 18.0 cm with tan-white, multilobulated cut surface and cystic cavity filled with blood. (B) H&E staining showing multinodular architecture with diffuse growth of tumor cells within nodules. (C) H&E staining showing variably sized and shaped follicles with secretions. (D) H&E staining showing tumor cells with abundant, eosinophilic, variably vacuolated cytoplasm and primitive-appearing nuclei, with abundant mitoses and apoptosis.", "modalities": ["pathology"]}], "diagnosis": "Juvenile granulosa-cell tumor", "standardized_diagnosis": [{"original_term": "Juvenile granulosa-cell tumor", "corrected_term": null, "code": "2F96&XA1QK0", "title": "Juvenile granulosa cell tumour unknown behaviour of unspecified site", "chapter": "Neoplasms", "primary": true}]}, "year": 2023, "classification": "Neoplastic diseases"}
+{"pmid": "28116334", "patient_info": {"basic_info": "A 12-year-old boy presented with episodes of seizures for the past 10 months. The seizures were generalized tonic clonic for the first 3 months, then developed into recurrent episodes of myoclonic jerks (7-8 episodes per day) with frequent falls. Six months after seizure onset, he developed disruptive and aggressive behavior along with poor scholastic performance. Subsequently, he developed progressive visual loss in the left eye six weeks prior to presentation. On examination, the child had multiple scar marks on the forehead due to recurrent falls. He was oriented with normal speech but had poor memory and insight. Visual acuity with pinhole was 6/9 in the right eye and 3/60 in the left eye. A left relative afferent pupillary defect was present. Further inquiry revealed he was unvaccinated and had a history of measles at two years of age in the form of exanthematous fever. The provisional diagnosis by the pediatric neurologist was a neurodegenerative disease with myoclonic epilepsy under investigation.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/28116334/fig/1.jpg"], "caption": "Color fundus photography of the right eye at initial presentation.", "detailed_caption": "A: Color fundus photography of the right eye at initial presentation demonstrates mild temporal pallor of the optic disc, documenting the posterior pole with no significant macular or peripheral pathology noted at this time.", "modalities": ["ophthalmic imaging"]}, {"type": "fig", "id": 2, "subfig": "A", "path": ["images/28116334/fig/2.jpg"], "caption": "Fundus examination of the left eye at first ophthalmic evaluation.", "detailed_caption": "The left eye at the first ophthalmic evaluation showed macular scar with pigment splinters. Small irregular whitish lesions with some pigmentation around the macular scar suggest distinct areas of chorioretinal atrophy.", "modalities": ["ophthalmic imaging"]}, {"type": "fig", "id": 2, "subfig": "D", "path": ["images/28116334/fig/3.jpg"], "caption": "(D) Electroencephalogram (EEG), compressed image format, paper speed 10 mm/s.", "detailed_caption": "D: The electroencephalogram (EEG) presented as Figure 2 (D) on page 3 demonstrates generalized pseudo-periodic epileptiform discharges occurring at variable intervals of 6–30 seconds, shown in a compressed image format at a paper speed of 10 mm/s, reflecting the characteristic electrophysiological findings associated with subacute sclerosing panencephalitis.", "modalities": ["electrophysiology"]}, {"type": "fig", "id": 3, "subfig": "B", "path": ["images/28116334/fig/4.jpg"], "caption": "Optical coherence tomography (OCT) of the left eye", "detailed_caption": "B: Optical coherence tomography (OCT) of the left eye showed severe retinal thinning at the posterior pole.", "modalities": ["ophthalmic imaging"]}], "diagnosis": "Subacute sclerosing panencephalitis (SSPE) confirmed by positive measles ELISA-IgG antibody in both cerebrospinal fluid and serum, with anti-measles antibody titer of 1:256 in serum and 1:16 in CSF", "standardized_diagnosis": [{"original_term": "Subacute sclerosing panencephalitis", "corrected_term": null, "code": "8A45.01", "title": "Subacute sclerosing panencephalitis", "chapter": "Diseases of the nervous system", "primary": true}, {"original_term": "Measles infection", "corrected_term": null, "code": "AB0Z/1F03", "title": "ear infection[Measles]", "chapter": "Diseases of the ear or mastoid process", "primary": false}]}, "year": 2017, "classification": "Neurological disorders"}
+{"pmid": "N-10000006", "patient_info": {"basic_info": "An 11-year-old girl presented with redness of the eyes that had persisted for 8 weeks. She had been well until the onset of mild eye redness, which was worse in the right eye than in the left eye. There was intermittent swelling of the eyelids but no photophobia, itching, pain, tearing, or discharge. The patient had emigrated from West Africa to the United States 6 years earlier. Physical examination revealed visual acuity with correction of 20/20 in the right eye and 20/25 in the left eye. Slit-lamp examination showed abundant white cells in the anterior chamber of both eyes (greater in the right eye), keratic precipitates, posterior synechiae, and rare iris nodules in the right eye. Funduscopic examination revealed optic-disk swelling and peripheral retinal hemorrhages in both eyes, as well as perivascular exudates in the right eye. Laboratory tests showed hemoglobin 10.2 g/dl, hematocrit 31.3%, platelet count 233,000 per μl, white-cell count 4690 per μl, creatinine 0.75 mg/dl, erythrocyte sedimentation rate 90 mm/hr, lysozyme 3.83 μg/ml (elevated), and normal angiotensin-converting enzyme level. Screening tests for HIV, syphilis, and Lyme disease were negative. An interferon-γ release assay for M. tuberculosis was indeterminate. Chest radiography revealed hilar fullness.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/N-10000006/fig/1.jpg"], "caption": "(A) CT of the chest, coronal view, performed after administration of intravenous contrast material. (B) CT of the abdomen, axial view. (C) MRI of the head, axial T1-weighted fat-suppressed image of the orbits, performed after administration of intravenous contrast material.", "detailed_caption": "(A) CT of the chest, coronal view, performed after administration of intravenous contrast material, shows mediastinal lymphadenopathy. (B) CT of the abdomen, axial view, shows retroperitoneal lymphadenopathy. (C) MRI of the head, axial T1-weighted fat-suppressed image of the orbits, performed after administration of intravenous contrast material, shows enhancement of the irises with greater enhancement in the right globe than in the left globe, consistent with uveitis.", "modalities": ["ct", "mri"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/N-10000006/fig/2.jpg"], "caption": "(A) Fundus photograph of the right eye. (B) Fundus photograph of the left eye.", "detailed_caption": "Fundus photographs of the right eye (A) and left eye (B) show perivascular exudates and hemorrhages.", "modalities": ["ophthalmic imaging"]}, {"type": "tab", "id": 1, "subfig": null, "path": ["images/N-10000006/tab/3.jpg"], "caption": "Laboratory results.", "detailed_caption": "Laboratory data showing hemoglobin 10.2 g/dl (low), hematocrit 31.3% (low), platelet count 175,000-233,000 per μl, white-cell count 4690-5600 per μl, creatinine 0.75 mg/dl, alanine aminotransferase 17-28 U/liter, aspartate aminotransferase 31-34 U/liter, alkaline phosphatase 129 U/liter, albumin 4.2 g/dl, total protein 8.8 g/dl (elevated), C-reactive protein 2.8-3.6 mg/liter, erythrocyte sedimentation rate 90 mm/hr (elevated), angiotensin-converting enzyme 74 U/liter (normal), lysozyme 2.60-3.83 μg/ml (elevated), negative antinuclear antibody, and negative antineutrophil cytoplasmic antibody.", "modalities": ["lab"]}], "diagnosis": "Sarcoidosis", "standardized_diagnosis": [{"original_term": "Sarcoidosis", "corrected_term": null, "code": "4B20.Z", "title": "Sarcoidosis", "chapter": "Diseases of the immune system", "primary": true}]}, "year": 2022, "classification": "Infectious and immunologic disorders"}
+{"pmid": "N-10000022", "patient_info": {"basic_info": "A 14-year-old female patient presented with generalized pruritus accompanied by scleral icterus and petechiae/ecchymoses on the extremities for over 2 months. She had no fever, abdominal pain, or distension. Past medical history included amenorrhea, menstrual irregularities, and acne. She had been taking Chinese herbal medicines (specific components unknown) for approximately 9 months. Physical examination revealed clear consciousness, facial acne and pigmentation, mild scleral and mucocutaneous jaundice, soft abdomen without tenderness or rebound tenderness, and no lower extremity edema.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/N-10000022/fig/1.jpg"], "caption": "(A) MRI, T1-weighted sequence, basal ganglia. (B) MRI, T2-weighted sequence, basal ganglia. (C) MRI, diffusion-weighted imaging, basal ganglia. (D) MRI, T2 FLAIR sequence, basal ganglia.", "detailed_caption": "(A) T1-weighted MRI showing hyperintense signal in deep basal ganglia (red arrow), indicating heavy metal deposition. (B) T2-weighted MRI showing slightly increased signal in basal ganglia (red arrow), indicating degeneration. (C) Diffusion-weighted imaging showing slightly high signal in basal ganglia (red arrow), indicating degeneration. (D) T2 FLAIR showing slightly high signal in deep basal ganglia (red arrow), indicating degeneration.", "modalities": ["mri"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/N-10000022/fig/2.jpg"], "caption": "(A) Fundus diffuse light examination. (B) Slit lamp examination.", "detailed_caption": "(A) Fundus diffuse light examination. (B) Slit lamp examination. Both show greenish-brown rings formed by the posterior elastic layer of the cornea (K-F rings).", "modalities": ["ophthalmic imaging"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/N-10000022/fig/3.jpg"], "caption": "Genetic analysis of the ATP7B gene, c.2333G>T (p.R778L) variant in exon 8.", "detailed_caption": "ATP7B gene mutation analysis showing a clinically relevant variant c.2333G>T(p.R778L) located in exon 8 of the ATP7B gene, representing a homozygous missense mutation.", "modalities": ["genetic"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/N-10000022/fig/4.jpg"], "caption": "Pathological examination of liver tissue.(A) H&E staining, 100× magnification. (B) H&E staining, 100× magnification. (C) Masson staining, 100× magnification. (D) Rhodanine staining, 100× magnification.", "detailed_caption": "(A) Moderate interface hepatitis with lymphocyte infiltration (red arrow), H&E staining, 100×. (B) Hepatocytes showing 'rosette' formation, H&E staining, 100×. (C) Masson staining showing pseudolobule formation, Masson staining, 100×. (D) Copper staining (rhodanine method) showing abundant reddish-brown coarse granular pigment deposition in hepatocytes, rhodanine staining, 100×.", "modalities": ["pathology"]}], "diagnosis": "Wilson's disease", "standardized_diagnosis": [{"original_term": "Wilson's disease", "corrected_term": null, "code": "5C64.00", "title": "Wilson disease", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": true}]}, "year": 2025, "classification": "Gastrointestinal disorders"}
+{"pmid": "N-10000058", "patient_info": {"basic_info": "A 16-year-old girl presented with intermittent abdominal pain that had developed 4 weeks before admission. The episodes of pain became more frequent over 2 weeks, increasing from every few days to twice daily and lasting approximately 2 minutes. The pain was sharp, rated 8/10, and worst in the epigastrium and upper quadrants. Two weeks before admission, she developed new nausea and vomited three times. She was unable to attend school. At initial evaluation at another hospital, she had a temperature of 36.6°C, heart rate 105 beats per minute, blood pressure 125/66 mm Hg, respiratory rate 18 breaths per minute, and oxygen saturation 99% on room air. She had dry mucous membranes and diffuse abdominal tenderness with guarding on palpation of the epigastrium and upper quadrants. Laboratory tests showed white-cell count 14,900 per microliter, hemoglobin 11.3 g per deciliter, and normal urinalysis. Abdominal and pelvic ultrasonography showed no abnormalities, although the appendix was not visualized. The patient continued to have intermittent episodes of abdominal pain and nausea over the following week, with pain worsening after taking ibuprofen. One week before admission, pain woke her from sleep. On the day of admission, episodes lasted 15 minutes and she vomited five times. She described severe pain occurring abruptly, followed by nausea; vomiting decreased pain severity. The pain was unrelated to menstruation, body position, time of day, or eating/drinking. She had decreased appetite, fatigue, dizziness, generalized weakness, and worsening constipation with last bowel movement 3 days before admission. Medical history included iron-deficiency anemia and anxiety disorder; she had pica as a toddler. She had normal growth and development. Medications included iron supplementation, oral contraception, and famotidine. She lived with her parents and sister, was sexually active with consistent condom use, and had last smoked marijuana 4 weeks before admission. Family history included peptic ulcer disease, heart disease, depression, and anxiety.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/N-10000058/tab/1.jpg"], "caption": "Laboratory results.", "detailed_caption": "Laboratory data showed hemoglobin 10.8 g/dl (reference range 12.0-16.0), hematocrit 34.9% (36.0-46.0), white-cell count 15,720 per μl (4500-13,000), neutrophils 12,940 per μl (1800-8100), lymphocytes 1780 per μl (1200-5200), monocytes 500 per μl (200-1400), eosinophils 350 per μl (0-1000), basophils 80 per μl (0-400), platelet count 620,000 per μl (150,000-450,000), mean corpuscular volume 69.5 fl (78.0-98.0), erythrocyte sedimentation rate 32 mm/hr (0-19), and C-reactive protein 4.6 mg/liter (0.0-8.0).", "modalities": ["lab"]}, {"type": "fig", "id": 1, "subfig": null, "path": ["images/N-10000058/fig/2.jpg"], "caption": "(A) Endoscopic image of the esophagus. (B,C) Endoscopic images of the stomach. (D) Surgically removed gastric and duodenal specimen.", "detailed_caption": "(A) Endoscopic image of the esophagus shows normal esophageal mucosa. (B) Endoscopic image of the stomach shows normal mucosa and a trichobezoar with visible hair located in the gastric body. (C) Endoscopic image of the stomach shows normal mucosa and a trichobezoar with visible hair located in the gastric body. (D) The surgically removed gastric and duodenal trichobezoar with the tail that extended into the duodenum visible to the right.", "modalities": ["endoscopy", "pathology"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/N-10000058/fig/3.jpg"], "caption": "(A) CT of the abdomen and pelvis with intravenous contrast, axial view. (B) CT of the abdomen and pelvis, coronal reconstruction.", "detailed_caption": "(A) CT of the abdomen and pelvis performed after administration of intravenous contrast material, axial view, shows no abnormalities in the liver and spleen; heterogeneous and predominantly hypodense mottled materials are present within the gastric lumen (arrows). (B) CT of the abdomen and pelvis, coronal reconstruction image, shows no abnormalities in the appendix (black arrow) and no evidence of bowel obstruction; the heterogeneous intraluminal gastric contents are again visible (white arrow).", "modalities": ["ct"]}], "diagnosis": "Trichobezoar", "standardized_diagnosis": [{"original_term": "Trichobezoar", "corrected_term": null, "code": "ND73.20", "title": "Trichobezoar", "chapter": "Injury, poisoning or certain other consequences of external causes", "primary": true}]}, "year": 2024, "classification": "Gastrointestinal disorders"}
+{"pmid": "21424749", "patient_info": {"basic_info": "A 73-year-old woman presented with a 10-year history of severe paraspinal muscle atrophy and cerebellar ataxia. Her symptoms began at age 63 with a slight stooping posture and progressing to gait instability requiring a walking stick by age 68, and difficulty climbing stairs by age 70. She had moderate weakness of neck flexion, mild weakness of proximal limb muscles, poor balance with tandem gait without limb ataxia, and scored 25 points on the Mini-Mental State Examination. Laboratory findings showed elevated serum creatine kinase at 290 IU/l (normal 45-163), normal resting blood and CSF lactate levels, slightly low thyroid-stimulating hormone at 0.47 μIU/ml (normal 0.5-5.0), elevated antithyroglobulin antibody at 7.0 U/ml (normal <0.3), elevated antithyroid peroxidase antibody at 46.5 U/ml (normal <0.3), elevated rheumatoid factor at 152.3 IU/ml (normal <15.0), and mildly elevated antinuclear antibody (titer 1:80). Needle electromyography of biceps brachii and rectus femoris muscles showed mild myopathic features. Pure-tone audiometry indicated sensorineural and high-frequency hearing loss, and Holter monitoring revealed high-frequency premature contractions.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/21424749/fig/1.jpg"], "caption": "pedigree diagram, current patient marked as Patient 1, solid black symbols indicating affected individuals, open symbols representing healthy individuals, and gray symbols denoting those with elevated creatine kinase (CK) levels", "detailed_caption": "Figure 1 presents the pedigree of the family affected by late-onset predominant axial myopathy and encephalopathy; it is a diagrammatic chart outlining familial relationships, with solid black symbols indicating affected individuals, open symbols representing healthy individuals, and gray symbols denoting those with elevated creatine kinase (CK) levels. The arrow points to the proband. This figure serves as a genetic and clinical overview and does not include clinical images or technical modalities such as imaging, pathology slides, or laboratory charts.", "modalities": ["genetic", "lab"]}, {"type": "fig", "id": 2, "subfig": "a,b", "path": ["images/21424749/fig/2.jpg"], "caption": "(A) Clinical photograph of patient posture. (B) Clinical photograph, dorsal view, paraspinal region.", "detailed_caption": "a: The full-length figure indicates the posture of the patient showing her pushed-out waist. b: The dorsal view shows the marked atrophy of the paraspinal muscles of the patient.", "modalities": ["clinical"]}, {"type": "fig", "id": 2, "subfig": "c", "path": ["images/21424749/fig/3.jpg"], "caption": "CT of the T10 vertebral level.", "detailed_caption": "CT of T10 reveals severe atrophy and fatty degeneration of the paraspinal muscles.", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": "d", "path": ["images/21424749/fig/4.jpg"], "caption": "Brain MRI, FLAIR sequence.", "detailed_caption": "Brain MRI FLAIR images of Patient 1 show moderate cerebellar atrophy and some cerebral cortical atrophy.", "modalities": ["mri"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/21424749/fig/5.jpg"], "caption": "(A) Gomori trichrome staining of the right biceps brachii muscle. (B) SDH staining of the right biceps brachii muscle. (C) COX staining of the right biceps brachii muscle.", "detailed_caption": "Histochemical analysis of the right biceps brachii muscle. a Gomori trichrome staining reveals typical ragged-red fibers. Histochemical analysis of serial sections of samples stained with b SDH or c COX shows a number of ragged-blue fibers with COX deficiency. a2c Bar 100 lm", "modalities": ["pathology"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/21424749/fig/6.jpg"], "caption": "Electron micrograph of the right biceps brachii muscle. (a) Scale bar 1 µm. (b) Scale bar 500 nm.", "detailed_caption": "Electron micrograph of abnormal mitochondria in the right biceps brachii muscle. Abnormal mitochondria with paracrystalline inclusions that are suggestive of mitochondrial myopathy are shown. a bar 1 lm, b bar 500 nm", "modalities": []}, {"type": "tab", "id": 1, "subfig": null, "path": ["images/21424749/tab/7.jpg"], "caption": "Respiratory chain enzyme activity assay normalized to citrate synthase. Current case marked as Patient 1.", "detailed_caption": "Respiratory chain enzyme activities show complex I activity at 43.4% of normal, complex II at 73.4%, complex III at 70.5%, and complex IV at 54.7% of normal when normalized to citrate synthase.", "modalities": ["lab"]}, {"type": "fig", "id": 5, "subfig": "a", "path": ["images/21424749/fig/8.jpg"], "caption": "Genetic analysis of muscle homogenate, DNA sequencing chromatogram, mutant load=64.7%. Genetic analysis of blood lymphocytes, DNA sequencing chromatogram. Current case marked as Patient 1", "detailed_caption": "DNA sequencing chromatogram shows heteroplasmic m.602C>T mutation in muscle homogenate mitochondrial tRNA gene, with 64.7% mutant load, but not detectable in blood lymphocytes.", "modalities": ["genetic"]}], "diagnosis": "A new phenotype of mitochondrial disease characterized by familial late-onset predominant axial myopathy and encephalopathy", "standardized_diagnosis": [{"original_term": "Mitochondrial disease", "corrected_term": null, "code": "5C53.Y", "title": "mitochondrial disease NOS", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": true}, {"original_term": "Axial myopathy", "corrected_term": null, "code": "8C7Y", "title": "Myopathy", "chapter": "Diseases of the nervous system", "primary": false}, {"original_term": "Encephalopathy", "corrected_term": null, "code": "8E47", "title": "encephalopathy NOS", "chapter": "Diseases of the nervous system", "primary": false}]}, "year": 2011, "classification": "Neurological disorders"}
+{"pmid": "N-10000045", "patient_info": {"basic_info": "A male infant, 22 hours old, was admitted due to \"repeated right-sided limb clonic seizures for 16 hours.\" The infant was born at 40+6 weeks gestational age via cesarean section after fetal heart monitoring showed frequent variable decelerations 1 hour before delivery. The amniotic fluid was reduced and grade I turbid, with no premature rupture of membranes. Apgar scores were 10 at 1, 5, and 10 minutes, and birth weight was 3380g. Starting 6 hours after birth, the infant developed right-sided limb clonic seizures without consciousness disturbance or cyanosis, which resolved spontaneously, occurring 4 times total. On admission, physical examination revealed: T 36.7°C, P 125/min, R 46/min, BP 74/47(52) mmHg, weight 3290g, head circumference 36cm. The infant was alert with good response, normal skin color, flat anterior fontanelle with normal tension, bilateral pupils equal and round with diameter 2.5mm and sensitive light reflexes, coarse breath sounds without rales, normal heart sounds and rhythm without murmurs, soft abdomen without palpable masses, normal bowel sounds at 2/min, normal limb activity and muscle tone, and normal primitive reflexes.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/N-10000045/fig/1.jpg"], "caption": "(A) Head MRI, DWI sequence. (B) Head MRI, ADC sequence.", "detailed_caption": "(A) Head MRI DWI showing high signal; (B) ADC showing low signal", "modalities": ["mri"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/N-10000045/fig/2.jpg"], "caption": "Head MRA.", "detailed_caption": "Head MRA showing left middle cerebral artery main trunk and branches thicker than contralateral side, with M2 segment locally narrowed", "modalities": ["angiography"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/N-10000045/fig/3.jpg"], "caption": "(A) Head MRI, performed at 1 month follow-up, diffusion-weighted imaging (DWI). (B) Head MRI, performed at 1 month follow-up, apparent diffusion coefficient (ADC).", "detailed_caption": "(A) Head MRI DWI at 1 month follow-up showing low signal; (B) ADC showing high signal", "modalities": ["mri"]}], "diagnosis": "Neonatal left temporoparietal cerebral infarction", "standardized_diagnosis": [{"original_term": "Neonatal cerebral infarction", "corrected_term": null, "code": "8B11.5Z", "title": "cerebral infarct", "chapter": "Diseases of the nervous system", "primary": true}]}, "year": 2023, "classification": "Neurological disorders"}
+{"pmid": "26354489", "patient_info": {"basic_info": "An 18-year-old boy was referred for evaluation of suspected adrenal insufficiency. He was born full term to a native Kashmiri couple. His younger brother had died at age 1 year with possible adrenal insufficiency, and his two other younger siblings were healthy. The patient presented with 6 months of generalized weakness, asthenia, fatigue, anorexia, and progressive hyperpigmentation of skin. Physical examination revealed a lean build (BMI 12.64 kg/m²), hyperpigmentation of tongue, buccal mucosa and skin, and a nasal twang to voice. His blood pressure was 100/60 mm Hg with postural drop. Neurological examination showed hyperactive deep tendon reflexes, and unremarkable sensory examination. He had significant past history including alacrimia diagnosed at age 8 years (confirmed by Schirmer test), dysphagia to liquids at age 12 years leading to diagnosis of achalasia cardia, and severe muscle wasting of small muscles of feet at age 15 years.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/26354489/fig/1.jpg"], "caption": "pedigree chart, current patient marked as proband", "detailed_caption": "Figure 1 presents a family pedigree chart depicting the proband and the inheritance pattern of Allgrove (Triple A) syndrome within the described family, illustrating affected and unaffected family members without including any imaging, histopathology, or clinical photographic content.", "modalities": ["genetic"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/26354489/fig/2.jpg"], "caption": "Clinical photograph of the hands taken at the time of neurological examination.", "detailed_caption": "Figure 2 is a clinical photograph depicting the patient's hands, demonstrating wasting of the thenar and hypothenar muscles as well as pigmentation of the palmar creases, which are clinical features observed at the time of neurological examination and consistent with distal motor neuropathy and skin hyperpigmentation in the context of Allgrove syndrome.", "modalities": ["clinical"]}], "diagnosis": "Allgrove syndrome (Triple A syndrome) based on primary adrenal insufficiency with normal mineralocorticoid balance, alacrimia, achalasia cardia, and peripheral neuropathy", "standardized_diagnosis": [{"original_term": "Allgrove syndrome", "corrected_term": null, "code": "5A74.Y", "title": "Allgrove syndrome", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": true}, {"original_term": "Primary adrenal insufficiency", "corrected_term": null, "code": "5A74.0", "title": "primary adrenal insufficiency", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": false}, {"original_term": "Alacrimia", "corrected_term": null, "code": "LA14.11", "title": "Congenital alacrimia", "chapter": "Developmental anomalies", "primary": false}, {"original_term": "Achalasia cardia", "corrected_term": null, "code": "DA21.0", "title": "achalasia of cardia", "chapter": "Diseases of the digestive system", "primary": false}, {"original_term": "Peripheral neuropathy", "corrected_term": null, "code": "8C0Z", "title": "peripheral neuropathy NOS", "chapter": "Diseases of the nervous system", "primary": false}]}, "year": 2015, "classification": "Genetic and congenital disorders"}
+{"pmid": "N-10000072", "patient_info": {"basic_info": "A man in his early 40s with no significant medical history presented to the emergency department with chest pain and shortness of breath of insidious but progressive onset over several weeks. Physical examination and routine laboratory workup were unremarkable. Chest X-ray revealed a right pneumothorax and a right upper lobe lung mass. CT of the chest with intravenous contrast revealed a large right-sided pneumothorax with minimal leftward displacement of the mediastinal structures and a 3.4 cm dense mass abutting the posterior right upper lobe pleura with cystic necrosis highly suspicious for malignancy. CT-guided biopsy of the mass showed a poorly differentiated non-small cell carcinoma with large pleomorphic tumor cells, moderate-to-large amounts of eosinophilic cytoplasm, focal rhabdoid features, scattered tumor giant cells, and identifiable mitotic figures. The tumor cells expressed CK7 and CK AE1/3 but were negative for TTF1, Napsin A, P40, SOX10 and CD45. PD-L1 staining using the 22C3 antibody was positive for high PD-L1 expression with a tumor proportion score of 90%. Endobronchial ultrasound with biopsy to stage the mediastinum was negative for carcinoma in the left level 4 paratracheal, right level 4, level 7 and right level 10. MRI of the head with and without contrast preoperatively revealed no intracranial metastasis.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/N-10000072/fig/1.jpg"], "caption": "H&E staining of resected pulmonary pleomorphic carcinoma.(A)40× magnification. (B)20× magnification.", "detailed_caption": "(A) H&E staining, 40× magnification, showing carcinoma with large pleomorphic tumor cells and a rhabdoid appearance. (B) H&E staining, 20× magnification, showing focal epithelioid appearance.", "modalities": ["pathology"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/N-10000072/fig/2.jpg"], "caption": "(A) PET scan performed prior to mediastinal staging and surgical resection.", "detailed_caption": "(A) PET scan performed prior to mediastinal staging and surgical resection showing a solitary peripheral intensely hypermetabolic pleural-based, lobulated right upper lobe mass.", "modalities": ["pet/spect/nuclear"]}], "diagnosis": "Pulmonary pleomorphic carcinoma", "standardized_diagnosis": [{"original_term": "Pulmonary pleomorphic carcinoma", "corrected_term": null, "code": "2C25.Y", "title": "Pleomorphic carcinoma of lung", "chapter": "Diseases of the respiratory system", "primary": true}]}, "year": 2024, "classification": "Neoplastic diseases"}
+{"pmid": "N-10000032", "patient_info": {"basic_info": "A 29-year-old woman presented with a 7-week history of progressive pruritus throughout the body, nausea, bloating, and watery mustard-colored diarrhea that began after eating sushi. She had recently moved from New England to the southeastern United States. Initial treatment with methylprednisolone injection, hydroxyzine, and diphenoxylate-atropine at an urgent care clinic did not resolve symptoms. Three weeks later, jaundice developed along with right upper quadrant discomfort, decreased appetite, and amber-colored urine. Four weeks before presentation, laboratory tests showed alanine aminotransferase 327 U/L (reference 1-33), aspartate aminotransferase 104 U/L (reference 1-32), total bilirubin 5.8 mg/dL (reference 0.1-1.2), and CA 19-9 73 U/mL (reference 0-35). She had a history of anxiety and depression, took no medications, and had no drug allergies. Family history included colon cancer in maternal grandmother, maternal grandfather, and paternal grandmother; breast cancer in maternal and paternal aunts; and thyroid cancer in father. On examination, temperature was 36.9°C, blood pressure 155/82 mm Hg, pulse 94 beats per minute, respiratory rate 20 breaths per minute, and oxygen saturation 100% while breathing ambient air. She was thin and appeared jaundiced with scleral icterus and diffuse excoriations from scratching.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/N-10000032/fig/1.jpg"], "caption": "(A) Coronal contrast-enhanced CT of the abdomen. (B) Axial contrast-enhanced CT of the abdomen. (C) Coronal magnetic resonance cholangiopancreatography of the abdomen, thick-section. (D) Axial gadolinium-enhanced T1-weighted MRI of the abdomen. (E) Endoscopic ultrasonography of the abdomen.", "detailed_caption": "(A) Coronal contrast-enhanced CT image shows diffuse intrahepatic and extrahepatic biliary ductal dilatation and pancreatic ductal dilatation (double-duct sign). (B) Axial contrast-enhanced CT image shows a hypodense region in the pancreatic head and uncinate process at the site of duct obstruction. (C) Coronal thick-section magnetic resonance cholangiopancreatographic image shows dilatation of the biliary ducts and pancreatic ducts with an abrupt transition in the pancreatic head. (D) Axial gadolinium-enhanced T1-weighted magnetic resonance image shows a heterogeneously enhancing mass in the region of the pancreatic head. (E) Endoscopic ultrasonographic image shows a hypoechoic mass in the pancreatic head.", "modalities": ["ct", "mri", "ultrasound", "endoscopy"]}, {"type": "tab", "id": 1, "subfig": null, "path": ["images/N-10000032/tab/2.jpg"], "caption": "Laboratory results on admission to first hospital and on admission to second hospital.", "detailed_caption": "Laboratory data on admission to first hospital showed hemoglobin 13.6 g/dL, white cell count 8290/μL with eosinophils 912/μL, platelet count 228,000/μL, glucose 162 mg/dL, lipase 72 U/L, alanine aminotransferase 327 U/L, aspartate aminotransferase 104 U/L, alkaline phosphatase 172 U/L, total bilirubin 5.8 mg/dL, albumin 4.10 g/dL, and carbohydrate antigen 19-9 73 U/mL. On admission to second hospital, alanine aminotransferase was 85 U/L, aspartate aminotransferase 267 U/L, alkaline phosphatase 150 U/L, total bilirubin 6.7 mg/dL, and CA 19-9 79 U/mL.", "modalities": ["lab"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/N-10000032/fig/3.jpg"], "caption": "(A) Aspirate, Papanicolaou staining. (B) Core-biopsy specimen, hematoxylin and eosin staining. (C) Aspirate, Diff-Quik staining. (D) Cell block, hematoxylin and eosin staining.", "detailed_caption": "(A) Papanicolaou staining of aspirate shows benign ductal epithelial cells with small, uniform, evenly spaced nuclei. (B) Hematoxylin and eosin staining of the corresponding core-biopsy specimen shows benign atrophic pancreatic acinar cells and an islet separated by fibrosis. (C) Diff-Quik staining of additional aspirate shows a cluster of atypical epithelial cells with nuclear crowding and irregularly shaped nuclear contours. (D) Hematoxylin and eosin staining of the corresponding cell block shows a group of highly atypical epithelial cells with nuclear pallor, irregular nuclear membranes, and abundant foamy cytoplasm next to a strip of benign ductal cells.", "modalities": ["pathology"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/N-10000032/fig/4.jpg"], "caption": "(A) Pancreaticoduodenectomy specimen, H&E staining. (B, C, D) Pancreaticoduodenectomy specimen, H&E staining, higher magnification.", "detailed_caption": "(A) Hematoxylin and eosin staining of the pancreaticoduodenectomy specimen shows numerous malignant infiltrating glands. (B, C, D) At higher magnification, carcinoma glands can be identified in a dense cellular stroma. There is a focus of perineural invasion and evidence of metastasis to a lymph node.", "modalities": ["pathology"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/N-10000032/fig/5.jpg"], "caption": "(A) Contrast-enhanced CT, axial view, liver segment 4. (B) Contrast-enhanced CT, axial view, region posterior to the superior mesenteric vessels at the surgical resection bed. (C) MRI, axial view, gadolinium-enhanced T1-weighted sequence, liver segment 8. (D) MRI, axial view, gadolinium-enhanced T1-weighted sequence, liver segment 4. (E, F) 18F-fluorodeoxyglucose positron emission tomography, liver.", "detailed_caption": "(A) Axial contrast-enhanced CT image shows an 8-mm hypodense lesion in liver segment 4 and (B) soft-tissue changes posterior to the superior mesenteric vessels at the surgical resection bed. (C) Axial gadolinium-enhanced T1-weighted MRI shows a peripherally enhancing lesion in liver segment 8 and (D) another in liver segment 4, findings suggestive of liver metastasis. (E, F) 18F-fluorodeoxyglucose (FDG)-positron-emission tomographic images show intense FDG avidity within the liver lesions.", "modalities": ["ct", "mri", "pet/spect/nuclear"]}], "diagnosis": "Pancreatic ductal adenocarcinoma", "standardized_diagnosis": [{"original_term": "Pancreatic ductal adenocarcinoma", "corrected_term": null, "code": "2C10.0", "title": "Ductal adenocarcinoma of pancreas", "chapter": "Neoplasms", "primary": true}]}, "year": 2022, "classification": "Neoplastic diseases"}
+{"pmid": "N-10000042", "patient_info": {"basic_info": "A 27-year-old man from El Salvador presented to the emergency department with leg weakness. He had been in his usual state of health until 3 days before presentation, when myalgias developed in his upper legs. On the morning of presentation, he could not lift his legs to move in bed or stand up, and had weakness in his arms. He had moved to Boston from El Salvador 5 months before presentation and had been experiencing difficulty sleeping, loose stools, weight loss of approximately 5 kg, and hand tremors for several months, which he attributed to stress. Four days before presentation, he began taking an herbal supplement (Nervitran) intended to reduce stress. On examination, he had temporal temperature 36.2°C, blood pressure 144/79 mm Hg, pulse 96 beats per minute, respiratory rate 18 breaths per minute, oxygen saturation 99% on ambient air, and BMI 21.6. He had conjunctival injection in both eyes, muscle strength 4/5 in upper extremities and 3/5 in lower extremities, 3+ patellar reflexes, and fine tremor in hands. Laboratory results showed severe hypokalemia (potassium 1.8 mmol/liter), elevated liver enzymes (AST 56 U/liter, ALT 65 U/liter), alkaline phosphatase 137 U/liter, total bilirubin 1.3 mg/dl, creatine kinase 382 U/liter, and aldolase 9.9 U/liter. Venous blood gases showed pH 7.29.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/N-10000042/tab/1.jpg"], "caption": "Laboratory results on presentation.", "detailed_caption": "Laboratory data on presentation showing sodium 141 mmol/liter, potassium 1.8 mmol/liter, chloride 106 mmol/liter, carbon dioxide 23 mmol/liter, urea nitrogen 17 mg/dl, creatinine 0.53 mg/dl, glucose 141 mg/dl, anion gap 12 mmol/liter, calcium 10.4 mg/dl, magnesium 1.8 mg/dl, alkaline phosphatase 156 U/liter, alanine aminotransferase 67 U/liter, aspartate aminotransferase 54 U/liter, total bilirubin 1.3 mg/dl, direct bilirubin 0.3 mg/dl, international normalized ratio 1.1, albumin 4.1 g/dl, creatine kinase 382 U/liter, aldolase 9.9 U/liter, and venous blood gases showing pH 7.29, partial pressure of carbon dioxide 56 mm Hg, partial pressure of oxygen 32 mm Hg.", "modalities": ["lab"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/N-10000042/fig/2.jpg"], "caption": "(A) Transverse grayscale ultrasound of the thyroid gland. (B) Transverse color Doppler ultrasound of the thyroid gland.", "detailed_caption": "(A) Grayscale transverse ultrasound image shows an enlarged thyroid gland with heterogeneous echotexture. (B) Color Doppler transverse image shows diffusely increased vascularity.", "modalities": ["ultrasound"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/N-10000042/fig/3.jpg"], "caption": "(A) Thyroid resection specimen, H&E staining, low magnification. (B) Thyroid resection specimen, H&E staining, high magnification. (C) Thyroid resection specimen, H&E staining. (D) Thyroid resection specimen, H&E staining. (E) Thyroid resection specimen, H&E staining. (F) Thyroid resection specimen, H&E staining.", "detailed_caption": "(A) Hematoxylin and eosin staining of thyroid resection specimen at lower magnification showing lymphoid aggregates with germinal centers (arrows) that are the hallmark of chronic thyroiditis, with all follicles being macrofollicles typically seen in normal thyroid tissue. (B) Higher magnification showing lymphoid aggregates with germinal centers (arrows). (C) Graves' disease evidenced by hyperplasia in nodular pattern with papillary architectural projections into colloid-rich follicles (arrows). (D) Papillary projections (arrow) have fibrovascular cores and round, normochromatic nuclei. (E) Empty follicles (asterisks) indicate excreted colloid after stimulation by thyroid-stimulating immunoglobulin. (F) Mixed pattern of compressed, empty follicles (center) and normal macrofollicles (periphery) indicative of effective medical treatment.", "modalities": ["pathology"]}], "diagnosis": "Thyrotoxic periodic paralysis associated with Graves' disease", "standardized_diagnosis": [{"original_term": "Thyrotoxic periodic paralysis", "corrected_term": null, "code": "5A02.Y", "title": "Thyrotoxic periodic paralysis", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": true}, {"original_term": "Graves' disease", "corrected_term": null, "code": "5A02.0", "title": "Graves disease", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": false}]}, "year": 2024, "classification": "Endocrine and metabolic disorders"}
+{"pmid": "N-10000064", "patient_info": {"basic_info": "A 39-year-old man presented to the emergency department during the summer with a 4-day history of fever with shaking chills, diffuse headache, and fatigue following his return from a 2-week trip to East Africa. During his trip to Tanzania, he had been on safari without animal contact but received mosquito bites, especially during the first days. He consumed cooked shrimp and lobster and a small amount of raw tuna. On the second-to-last day of the trip, he developed nausea, vomiting, and nonbloody diarrhea. Upon returning to Massachusetts, he experienced fever (38.3°C to 39.5°C), shaking chills, diffuse headache, and lower back pain. He reported weakness, anorexia, decreased urine output with dark urine, and blurry vision during fever episodes. His medical history included degenerative knee disease with previous glucocorticoid injections. On examination, he had a temperature of 38.9°C, blood pressure 113/62 mm Hg, facial flushing, mild scleral icterus, and dark brown urine.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/N-10000064/tab/1.jpg"], "caption": "Laboratory results on initial evaluation.", "detailed_caption": "Laboratory data on initial evaluation showed hemoglobin 17.6 g/dl, hematocrit 51.2%, platelet count 24,000/μl (reference: 150,000-400,000), creatinine 1.64 mg/dl (reference: 0.60-1.50), alanine aminotransferase 119 U/liter (reference: 10-55), aspartate aminotransferase 137 U/liter (reference: 10-40), total bilirubin 3.3 mg/dl (reference: 0.0-1.0), direct bilirubin 1.5 mg/dl (reference: 0.0-0.4), haptoglobin <10 mg/dl (reference: 30-200), and venous blood pH 7.41.", "modalities": ["lab"]}, {"type": "fig", "id": 1, "subfig": null, "path": ["images/N-10000064/fig/2.jpg"], "caption": "(A) Chest radiograph, frontal view. (B) Abdominal ultrasound, liver.", "detailed_caption": "(A) Single-view frontal chest radiograph shows no evidence of pneumonia or pulmonary edema. Electrocardiogram leads are visible. (B) Limited abdominal ultrasound image shows echogenic liver parenchyma indicative of mild hepatic steatosis but is otherwise unremarkable.", "modalities": ["x-ray", "ultrasound"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/N-10000064/fig/3.jpg"], "caption": "(A) Rapid antigen test for malaria. (B) Thin peripheral-blood smear, Giemsa staining, parasitemia level 36%. (C) Thin peripheral-blood smear, Giemsa staining. (D) Thin peripheral-blood smear, Giemsa staining.", "detailed_caption": "(A) Rapid antigen test for malaria shows positive bands at test 1 (T1) and test 2 (T2) lines, indicating Plasmodium falciparum infection. (B) Giemsa staining of thin peripheral-blood smear shows abundant intraerythrocytic ring forms with estimated parasitemia level of 36%. (C) Ring form with characteristic 'headphone' appearance. (D) Maturing trophozoite producing golden-brown malaria pigment (arrow).", "modalities": ["lab", "pathology"]}], "diagnosis": "Plasmodium falciparum malaria", "standardized_diagnosis": [{"original_term": "Plasmodium falciparum malaria", "corrected_term": null, "code": "1F40.Z", "title": "Malaria due to Plasmodium falciparum", "chapter": "Certain infectious or parasitic diseases", "primary": true}]}, "year": 2024, "classification": "Infectious and immunologic disorders"}
+{"pmid": "N-10000050", "patient_info": {"basic_info": "A 33-year-old male worker presented with a 20-day history of cough and sputum production. The symptoms began after catching cold, with yellow-white sticky sputum in small amounts, without hemoptysis, fever, chills, chest pain, or dyspnea. He had been treated at a local clinic with intravenous therapy (details unknown) without improvement. Seven days prior to admission, his cough worsened, particularly at night causing sleep difficulty, sometimes accompanied by right-sided chest pain. He was previously healthy with no significant medical history, smoked about 10 cigarettes daily for over ten years, and had no alcohol consumption history. Physical examination revealed: T 36.2℃, P 112/min, R 19/min, BP 126/85mmHg. Chest examination showed symmetric thorax without deformity, equal respiratory movements, symmetric vocal fremitus, clear percussion notes bilaterally, coarse breath sounds in both lungs with a small amount of wet rales audible in the right lung, no dry rales or pleural friction rubs.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/N-10000050/fig/1.jpg"], "caption": "Chest CT of the right lower lobe performed on 2021.4.1.", "detailed_caption": "Chest CT performed on 2021.4.1 showing multiple abnormal densities in the right lower lobe, likely inflammatory changes.", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/N-10000050/fig/2.jpg"], "caption": "(A) Lung tissue smear, H&E staining, low magnification. (B) Lung tissue, H&E staining, low magnification.", "detailed_caption": "Lung tissue smear pathology results showing numerous acute and chronic inflammatory cells, a small amount of phagocytic cells and Cryptococcus (HE staining, low magnification); Lung tissue showing fibrous granulation tissue, necrotic tissue, and fibrous exudate containing numerous Cryptococcus (HE staining, low magnification).", "modalities": ["pathology"]}], "diagnosis": "Cryptococcal pneumonia", "standardized_diagnosis": [{"original_term": "Cryptococcal pneumonia", "corrected_term": null, "code": "1F27.0", "title": "cryptococcal pneumonia", "chapter": "Certain infectious or parasitic diseases", "primary": true}]}, "year": 2022, "classification": "Infectious and immunologic disorders"}
+{"pmid": "N-10000070", "patient_info": {"basic_info": "A 21-year-old woman presented with a 4-month history of progressively worsening abdominal pain in the right lower quadrant, initially dull and aching but increasing in duration, frequency, and severity. She also reported fatigue, irritability, and weight gain of 4.5 kg despite increased exercise and decreased food intake. The patient had a history of hypothyroidism, anxiety, irritable bowel syndrome, and migraines. She had previously taken oral contraceptives but switched to a levonorgestrel-releasing IUD 6 months prior. Physical examination revealed blood pressure 119/73 mm Hg, heart rate 62 beats per minute, BMI 28.4, a firm thyroid with a small nodule on the right side, and a small hernia with a thrill at the right inguinal ring. Laboratory tests showed normal complete blood count, electrolytes, glucose, kidney, liver, and thyroid function. Screening tests for gonorrhea, chlamydia, HIV, and syphilis were negative.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/N-10000070/fig/1.jpg"], "caption": "(A) Sagittal ultrasound of the right liver region. (B) MRI, T2-weighted sequence, right adrenal gland. (C) Diffusion-weighted MRI. (D) CT scan before contrast administration, density=33 Hounsfield units. (E) CT scan during portal-venous phase, density=74 Hounsfield units. (F) CT scan during 15-minute delayed phase, density=45 Hounsfield units; absolute washout=71%.", "detailed_caption": "(A) Sagittal ultrasound image shows a hypoechoic mass posterior to the right lobe of the liver. (B) MRI T2-weighted image shows a mass arising from the right adrenal gland that is isointense. (C) Diffusion-weighted image shows diffusion restriction. (D) CT image before contrast administration shows density of 33 Hounsfield units. (E) CT during portal-venous phase shows density of 74 Hounsfield units. (F) CT during 15-minute delayed phase shows density of 45 Hounsfield units; the absolute washout is 71%.", "modalities": ["ultrasound", "mri", "ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/N-10000070/fig/2.jpg"], "caption": "(A) Hematoxylin and eosin staining of adrenal gland. (B) Hematoxylin and eosin staining of adrenal gland. (C) Hematoxylin and eosin staining of adrenal gland.", "detailed_caption": "(A) Hematoxylin and eosin staining shows a sharply circumscribed mass, abutting normal adrenal gland, that has nodular architecture. (B) The mass is composed of oncocytic tumor cells that are growing diffusely in the nodules and have conspicuous mitotic activity (circled). (C) The tumor cells have rare, atypical mitoses (arrow).", "modalities": ["pathology"]}], "diagnosis": "Oncocytic adrenocortical carcinoma, low grade", "standardized_diagnosis": [{"original_term": "Oncocytic adrenocortical carcinoma", "corrected_term": null, "code": "2D11.Z", "title": "Adrenocortical carcinoma", "chapter": "Neoplasms", "primary": true}]}, "year": 2022, "classification": "Neoplastic diseases"}
+{"pmid": "N-10000037", "patient_info": {"basic_info": "A 60-year-old man was transferred to this hospital for evaluation of new dyspnea, cough, neck swelling, and a lung mass. Three days before the current admission, the patient was transported to another hospital by ambulance. He had a 5-day history of sore throat, swelling of his neck and both arms, and orthopnea. He reported that he had had progressive dyspnea with walking or lifting items at his job for the past year; the dyspnea had been most prominent during the 4 months before this evaluation and had been accompanied by persistent nonproductive cough. His daughter, a health care worker, called emergency medical services when she noticed that he had facial redness and flushing and learned of the swelling of his neck and arms. On evaluation at the other hospital, the temperature was 35.6°C, the heart rate 78 beats per minute, the blood pressure 121/57 mm Hg, the respiratory rate 19 breaths per minute, and the oxygen saturation 96% while the patient was breathing ambient air. The face was flushed, and the neck was swollen. Breath sounds were absent in the right lung fields. The patient had smoked two packs of cigarettes per day for 40 years and smoked marijuana occasionally. He drank five beers per day two times per week. His family history was notable for pancreatic cancer in his mother.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/N-10000037/tab/1.jpg"], "caption": "Laboratory test results on admission to another hospital and this hospital.", "detailed_caption": "Laboratory data on admission to other hospital and this hospital showing hemoglobin 11.8 g/dl (other hospital) and 12.3 g/dl (this hospital), hematocrit 35.5% (other hospital) and 36.6% (this hospital), white-cell count 10,500 per μl (other hospital) and 11,560 per μl (this hospital), platelet count 342,000 per μl (other hospital) and 353,000 per μl (this hospital), sodium 129 mmol/liter (other hospital) and 132 mmol/liter (this hospital), potassium 4.5 mmol/liter (other hospital) and 3.9 mmol/liter (this hospital), chloride 94 mmol/liter (other hospital) and 98 mmol/liter (this hospital), carbon dioxide 29 mmol/liter (other hospital) and 24 mmol/liter (this hospital), urea nitrogen 12 mg/dl (other hospital) and 4 mg/dl (this hospital), creatinine 0.51 mg/dl (other hospital) and 0.61 mg/dl (this hospital), calcium 9.3 mg/dl (other hospital) and 8.3 mg/dl (this hospital), albumin 2.5 g/dl (other hospital), C-reactive protein 18.10 mg/dl (other hospital).", "modalities": ["lab"]}, {"type": "fig", "id": 1, "subfig": null, "path": ["images/N-10000037/fig/2.jpg"], "caption": "(A) Chest CT, transverse view, post-contrast. (B) Chest CT, transverse view, post-contrast. (C) Chest CT, coronal view, post-contrast. (D, E) Chest CT, coronal view, post-contrast.", "detailed_caption": "(A) CT of the chest, transverse image, performed after the administration of intravenous contrast material, shows a central mass in the right upper lobe with enlarged right hilar and right mediastinal lymph nodes. (B) Transverse image shows that the brachiocephalic veins are distended, with no opacification. (C) Coronal image shows that the superior vena cava (SVC) is distended with no opacification, and extensive collateral veins in the right chest wall are present. (D) Coronal image shows stents in the internal jugular veins, the brachiocephalic veins, and the SVC. (E) Coronal image shows stents in the internal jugular veins, the brachiocephalic veins, and the SVC.", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/N-10000037/fig/3.jpg"], "caption": "Bronchoscopy photograph of the right main-stem bronchus.", "detailed_caption": "Photograph obtained during bronchoscopy shows the right main-stem bronchus completely obstructed as a result of extrinsic compression and mucosal edema.", "modalities": ["endoscopy"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/N-10000037/fig/4.jpg"], "caption": "(A) Aspirate sample, H&E staining. (B) Cell-block preparation.", "detailed_caption": "(A) Hematoxylin and eosin staining of aspirate shows tumor cells with cytomorphologic features of adenocarcinoma, including large irregularly contoured nuclei with fine chromatin and prominent nucleoli as well as thin, translucent cytoplasm. (B) Cell-block preparation shows similar features.", "modalities": ["pathology"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/N-10000037/fig/5.jpg"], "caption": "PET-CT, after intravenous 18F-fluorodeoxyglucose administration.", "detailed_caption": "Staging PET-CT image, obtained after the administration of intravenous 18F-fluorodeoxyglucose (FDG) tracer, shows intense FDG uptake in the central right upper lobe and right mediastinal nodes and in the right adrenal gland.", "modalities": ["pet/spect/nuclear", "ct"]}], "diagnosis": "Poorly differentiated adenocarcinoma of the lung complicated by superior vena cava syndrome", "standardized_diagnosis": [{"original_term": "Poorly differentiated adenocarcinoma of the lung", "corrected_term": null, "code": "2C25.0", "title": "lung adenocarcinoma", "chapter": "Diseases of the respiratory system", "primary": true}, {"original_term": "Superior vena cava syndrome", "corrected_term": null, "code": "BD73.1", "title": "Acquired superior vena cava syndrome", "chapter": "Diseases of the circulatory system", "primary": false}]}, "year": 2022, "classification": "Neoplastic diseases"}
+{"pmid": "N-10000120", "patient_info": {"basic_info": "A 27-year-old man presented with convulsions that had been occurring for 2 years. The patient had been in his usual state of health until 2 years before admission, when shaking of the trunk, arms, and legs occurred, lasting approximately 4-5 minutes and preceded by sharp pain in the back of the head radiating to the neck, blurred vision, palpitations, nausea, and difficulty concentrating. Four months before admission, while drinking alcohol at a party, his body suddenly became stiff and he fell backward, with shaking of the trunk, arms, and legs for 5-8 minutes with urinary incontinence. Three months before admission, he reported convulsions occurring approximately once per week despite treatment with levetiracetam. One month before admission, colleagues found him on the floor with shaking and clenching movements lasting approximately 2 minutes. On examination, he was awake and alert but did not speak, with stiff body appearance and intermittent nonrhythmic tremulous movements of the trunk, arms, and legs. He had extensive scarring from burns on the face, trunk, back, arms, and legs. The patient had a history of febrile seizure in childhood, several concussions, asthma, major depressive disorder, chronic PTSD, and panic disorder with agoraphobia. His father died of heart disease and his mother had schizoaffective disorder and post-traumatic epilepsy. Blood levels of glucose, electrolytes, liver function, and kidney function were normal. Blood lactate level was 2.4 mmol/L (reference range 0.5-2.2) and creatine kinase level was 489 U/L (reference range 60-400).", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/N-10000120/fig/1.jpg"], "caption": "EEG obtained over 10 seconds during a convulsive episode.", "detailed_caption": "EEG obtained over a period of 10 seconds during a convulsive episode. Multiple eye movements occurred. There was a brief period of eye closure correlating with a normal 11-Hz posterior-dominant rhythm, followed by multiple eye blinks correlating with attenuation of the posterior-dominant rhythm. No epileptiform features were noted at any time during the episode.", "modalities": ["electrophysiology"]}], "diagnosis": "Functional seizures", "standardized_diagnosis": [{"original_term": "Functional seizures", "corrected_term": null, "code": "8A68.Z", "title": "Seizure NOS", "chapter": "Diseases of the nervous system", "primary": true}]}, "year": 2023, "classification": "Neurological disorders"}
+{"pmid": "N-10000086", "patient_info": {"basic_info": "A 57-year-old woman with resected stage IIIC cutaneous melanoma presented with fever. She had been in her usual state of health until 4 months before admission, when bleeding developed from a lesion on the right side of the scalp. Evaluation revealed ulcerated melanoma with positive margins. Three months before admission, wide local excision of the scalp lesion and neck lymph-node dissection were performed, revealing metastatic melanoma in 2 of 26 lymph nodes. Molecular profiling identified the BRAF V600E mutation. One month before admission, she began adjuvant therapy with dabrafenib and trametinib. One day after starting treatment, fever and nausea developed. Symptoms resolved after temporary discontinuation of therapy and antipyretics. Two weeks before admission, fever recurred. On presentation, she had a temperature of 40.2°C, blood pressure 85/53 mm Hg, pulse 108 beats per minute, and oxygen saturation 94% on ambient air. She was diaphoretic and appeared ill. Physical examination revealed mild tenderness in the right upper quadrant. No rash was present.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/N-10000086/tab/1.jpg"], "caption": "Laboratory test results and urinalysis.", "detailed_caption": "Laboratory data showed white-cell count 5190 per microliter with 20% bands and 10% metamyelocytes, platelet count 87,000 per microliter, creatinine 2.73 mg/dl, AST 190 U/liter, ALT 62 U/liter, alkaline phosphatase 173 U/liter, total bilirubin 1.9 mg/dl, d-dimer >10,000 ng/ml, fibrinogen 135 mg/dl, and creatine kinase 1679 U/liter. Urinalysis showed turbid yellow urine with 2+ blood and 1+ protein.", "modalities": ["lab"]}, {"type": "fig", "id": 1, "subfig": null, "path": ["images/N-10000086/fig/2.jpg"], "caption": "(A) Ultrasound of right upper quadrant. (B) Ultrasound of common bile duct, diameter 3 mm. (C) CT of abdomen and pelvis without intravenous contrast, mean liver attenuation 36 HU, mean spleen attenuation 46 HU. (D-F) CT of chest without intravenous contrast.", "detailed_caption": "(A) Ultrasound of right upper quadrant showing mobile echogenic focus indicating cholelithiasis without gallbladder-wall thickening or pericholecystic fluid. (B) Ultrasound showing normal common bile duct measuring 3 mm. (C) CT of abdomen and pelvis without intravenous contrast showing diffuse hypoattenuation of liver (mean 36 HU vs spleen 46 HU) suggesting hepatic steatosis. (D-F) CT of chest without intravenous contrast showing smooth interlobular septal thickening at apex and lung bases, small bilateral pleural effusions, and bronchial wall thickening, findings suggesting pulmonary edema.", "modalities": ["ultrasound", "ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/N-10000086/fig/3.jpg"], "caption": "(A) Core liver biopsy specimen, H&E staining. (B) H&E staining. (C) H&E staining. (D) Acid-fast staining. (E) Grocott-Gomori methenamine silver staining. (F) In situ hybridization for Epstein-Barr virus-encoded RNA.", "detailed_caption": "(A) Core liver biopsy specimen, H&E staining, showing well-formed nonnecrotizing epithelioid granulomas involving lobular parenchyma. (B) H&E staining showing granulomas and numerous apoptotic hepatocytes. (C) H&E staining showing granulomas involving portal tracts without histologically significant biliary injury. (D) Acid-fast staining negative for organisms. (E) Grocott-Gomori methenamine silver staining negative for fungal organisms. (F) In situ hybridization for Epstein-Barr virus-encoded RNA negative.", "modalities": ["pathology"]}], "diagnosis": "BRAF–MEK inhibitor–related toxic effects", "standardized_diagnosis": [{"original_term": "BRAF inhibitor-related toxic effects", "corrected_term": null, "code": "NE60", "title": "toxic effects of drugs NOS", "chapter": "Injury, poisoning or certain other consequences of external causes", "primary": true}, {"original_term": "MEK inhibitor-related toxic effects", "corrected_term": null, "code": "NE60", "title": "toxic effects of drugs NOS", "chapter": "Injury, poisoning or certain other consequences of external causes", "primary": false}]}, "year": 2024, "classification": "Neoplastic diseases"}
+{"pmid": "N-10000060", "patient_info": {"basic_info": "A 69-year-old male patient presented with lower abdominal pain. Physical examination revealed a flat abdomen without varicose veins, soft abdomen, with a palpable 3 cm×4 cm hard mass in the left lower abdomen, positive lower abdominal tenderness without rebound tenderness. Bowel sounds were normal at 4 times per minute. The patient had a history of cataracts for over one year, denied history of coronary heart disease, diabetes, hypertension, hepatitis, tuberculosis, or other acute or chronic infectious diseases. He denied food or drug allergies, trauma, blood transfusion history, or other surgical history.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/N-10000060/fig/1.jpg"], "caption": "(A) Lower abdominal CT, coronal view. (B) Lower abdominal CT, sagittal view. CT measurement: sigmoid colon wall thickness approximately 2 cm, lesion length 6.4 cm, soft tissue protruding into the bladder cavity measuring approximately 2 cm, with multiple enlarged lymph nodes.", "detailed_caption": "(A) Lower abdominal CT, coronal view showing soft tissue protruding into the bladder (yellow arrow). (B) Lower abdominal CT, sagittal view showing soft tissue protruding into the bladder (yellow arrow). CT findings: sigmoid colon is tortuous and elongated, with thickened bowel wall measuring approximately 2 cm at the thickest point, length 6.4 cm, blurred surrounding fat spaces, unclear demarcation with adjacent bladder wall, with soft tissue shadow protruding into the bladder cavity measuring approximately 2 cm, surrounded by flocculent slightly hyperdense shadows and multiple enlarged lymph nodes. CT results suggest sigmoid colon cancer invading the bladder with surrounding lymph node metastasis.", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/N-10000060/fig/2.jpg"], "caption": "(A) Urine liquid-based cytology, H&E staining, 200× magnification. (B–D) Urine liquid-based cytology, H&E staining, 400× magnification.", "detailed_caption": "(A) Urine liquid-based cytology showing individual scattered tumor cells, H&E ×200. (B) Urine liquid-based cytology showing small clusters of tumor cells, H&E ×400. (C) Urine liquid-based cytology showing tumor cells with moderate cytoplasm, hyperchromatic nuclei, extremely irregular nuclear membranes, and marked nuclear atypia, H&E ×400. (D) Urine liquid-based cytology showing rare columnar tumor cells with palisading arrangement and oval nuclei, H&E ×400.", "modalities": ["pathology"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/N-10000060/fig/3.jpg"], "caption": "(A) Immunocytochemical staining, 400× magnification, CDX-2 positive. (B) Immunocytochemical staining, 400× magnification, GATA3 negative.", "detailed_caption": "(A) CDX-2 positive, immunocytochemical staining ×400. (B) GATA3 negative, immunocytochemical staining ×400. Immunocytochemical staining results: positive for CDX-2 and Villin; negative for GATA3 and Uroplakin III.", "modalities": ["pathology"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/N-10000060/fig/4.jpg"], "caption": "(A) Sigmoid colon histopathology, H&E staining, 200× magnification. (B) Immunohistochemistry, 200× magnification; CDX-2 positive; CDX-2, CK20, CK8/18 positive; GATA3, Uroplakin III, CK7 negative; MLH1(+), MSH2(+), MSH6(+), PMS2(+); S100 (no nerve invasion), CD34 (vascular invasion), D2-40 (no lymphatic invasion); Ki-67 proliferation index ≈60%.", "detailed_caption": "(A) Sigmoid colon histopathology showing atypical glands infiltrating in fibrous stroma, H&E ×200. (B) CDX-2 positive, immunohistochemistry ×200. Immunohistochemical results: CDX-2, CK20, CK8/18 positive; GATA3, Uroplakin III, CK7 negative; MLH1(+), MSH2(+), MSH6(+), PMS2(+), S100 (no nerve invasion detected), CD34 (vascular invasion detected), D2-40 (no lymphatic invasion detected), Ki-67 proliferation index approximately 60%.", "modalities": ["pathology"]}], "diagnosis": "Sigmoid colon adenocarcinoma invading the bladder", "standardized_diagnosis": [{"original_term": "Sigmoid colon adenocarcinoma", "corrected_term": null, "code": "2B90.30", "title": "Adenocarcinoma of sigmoid colon", "chapter": "Diseases of the digestive system", "primary": true}, {"original_term": "Bladder invasion", "corrected_term": null, "code": "2C17.1&XA8KL9", "title": "Mucinous cystic neoplasm with associated invasive carcinoma of other or unspecified parts of biliary tract[Gallbladder]", "chapter": "Diseases of the digestive system", "primary": false}]}, "year": 2025, "classification": "Neoplastic diseases"}
+{"pmid": "28740483", "patient_info": {"basic_info": "A 6-year-old Japanese boy. He was born at term after an uncomplicated pregnancy. At 19 months, he was referred due to inability to walk unaided, and brain MRI was normal at that time. His linear growth started to slow from 5 months of age. At 38 months, his height was 84.5 cm with normal thyroid function and low baseline IGF-I. Growth hormone stimulation tests showed peak GH response to arginine of 4.60 ng/mL and to clonidine of 2.41 ng/mL, leading to diagnosis of partial growth hormone deficiency. At 6 years of age, he presented with painful knee joints, height 109.5 cm, arm span 111 cm, with some clumsiness in motion. Development was appropriate for age except for motor clumsiness. Laboratory data showed normal serum calcium, phosphate, alkaline phosphatase, intact PTH, IGF-I, and thyroid function, with undetectable TRAP activity. No immunological abnormalities were found. Bone mineral density was normal.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/28740483/fig/1.jpg"], "caption": "pedigree chart, current patient marked in black", "detailed_caption": "A: Figure 1 (A) presents a pedigree chart depicting the proband’s family structure, indicating the unaffected parents and sibling, with ages and final heights noted, and the affected 6-year-old male patient highlighted, but does not display laboratory, imaging, or clinical photographic data; its content is limited to family relationships and auxological parameters, rather than any imaging or sample analysis modality.", "modalities": ["genetic"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/28740483/fig/2.jpg"], "caption": "Growth curve illustrating height measurements from birth to 38 months.", "detailed_caption": "Growth curve shows height declining from normal at birth to -2.89 SD at 38 months when GH therapy was commenced, with subsequent improvement in growth velocity", "modalities": ["clinical"]}, {"type": "fig", "id": 2, "subfig": "A", "path": ["images/28740483/fig/3.jpg"], "caption": "Clinical photographs at 6 years of age, frontal and lateral views.", "detailed_caption": "A: Clinical photographs depicting the patient at 6 years of age demonstrate normal facial features and body proportions, with images taken in both frontal and lateral views to document overall physical appearance at the time of musculoskeletal symptom onset.", "modalities": ["clinical"]}, {"type": "fig", "id": 2, "subfig": "B", "path": ["images/28740483/fig/4.jpg"], "caption": "Spinal radiograph.", "detailed_caption": "Spinal radiograph showing generalized platyspondyly with irregular endplates and irregular ossifications in the posterior vertebral bodies", "modalities": ["x-ray"]}, {"type": "fig", "id": 2, "subfig": "C", "path": ["images/28740483/fig/5.jpg"], "caption": "Knee radiograph.", "detailed_caption": "Knee radiograph showing mild metaphyseal dysplasia with shaved contour and marginal spur in distal femoral metaphyses, lesser changes in proximal tibial metaphyses, and mild cupping proximal fibular metaphyses", "modalities": ["x-ray"]}, {"type": "fig", "id": 2, "subfig": "D,E", "path": ["images/28740483/fig/6.jpg"], "caption": "Hip and wrist radiographs.", "detailed_caption": "Hip and wrist radiographs showing similar metaphyseal changes as seen in the knee", "modalities": ["x-ray"]}, {"type": "fig", "id": 2, "subfig": "F", "path": ["images/28740483/fig/7.jpg"], "caption": "CT of the brain.", "detailed_caption": "Brain CT showing bilateral calcifications of the basal ganglia", "modalities": ["ct"]}, {"type": "fig", "id": 3, "subfig": "A,B", "path": ["images/28740483/fig/8.jpg"], "caption": "Genetic analysis.", "detailed_caption": "Chromatograms showing novel heterozygous ACP5 mutations: splice-site mutation (c.736-2 A>C) and nonsense mutation (c.526 C>T; p.R176X)", "modalities": ["genetic"]}, {"type": "fig", "id": 3, "subfig": "C", "path": ["images/28740483/fig/9.jpg"], "caption": "Quantitative RT-PCR analysis of IFI27, IFIT1, IFI44L, ISG15, RSAD2, and SIGLEC1.", "detailed_caption": "Quantitative RT-PCR showing marked upregulation of interferon-stimulated genes (IFI27, IFIT1, IFI44L, ISG15, RSAD2, SIGLEC1) in patient compared to healthy controls", "modalities": ["lab"]}], "diagnosis": "Spondyloenchondrodysplasia (SPENCD) with partial growth hormone deficiency", "standardized_diagnosis": [{"original_term": "Spondyloenchondrodysplasia", "corrected_term": null, "code": "LD24.3", "title": "Spondyloenchondrodysplasia", "chapter": "Developmental anomalies", "primary": true}, {"original_term": "Partial growth hormone deficiency", "corrected_term": null, "code": "5A61.3", "title": "Growth hormone deficiency", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": false}]}, "year": 2017, "classification": "Genetic and congenital disorders"}
+{"pmid": "N-10000083", "patient_info": {"basic_info": "A newborn girl was admitted to the neonatal intensive care unit (NICU) because of cardiorespiratory arrest at delivery. The mother was a 19-year-old woman (gravida 1, para 1) with a history of hepatitis C virus infection. Pregnancy was complicated by urogenital Chlamydia trachomatis infection treated in the second trimester and gestational hypertension. Serial ultrasound surveys between 20 weeks 1 day and 39 weeks 6 days of gestation revealed dilatation of the urinary tract on the right side. At 40 weeks 0 days of gestation, spontaneous rupture of membranes occurred, and after 22 hours 39 minutes of labor, a cesarean section was performed due to nonreassuring fetal status. The amniotic fluid was stained with meconium. The newborn was delivered in breech position with birth weight 3575 g (62nd percentile), length 50 cm (42nd percentile), and head circumference 35.5 cm (72nd percentile). She had limp tone and no respiratory effort. After 16 minutes of resuscitation including intubation, cardiopulmonary resuscitation, epinephrine administration, and normal saline boluses, spontaneous circulation was restored. Apgar scores at 1, 5, 10, 15, and 20 minutes were 1, 0, 0, 1, and 3, respectively. On arrival in the NICU, the axillary temperature was 34.9°C, heart rate 141 beats per minute, and blood pressure 84/59 mm Hg. Oxygen saturation was 97% while receiving oxygen through mechanical ventilation. Therapeutic hypothermia was initiated.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/N-10000083/fig/1.jpg"], "caption": "(A) Chest radiography on the day of birth. (B) Chest radiography on day 2. (C) Chest radiography after left needle thoracentesis. (D) Chest radiography on day 21.", "detailed_caption": "(A) Chest radiography on the day of birth revealed a small-to-moderate pneumothorax in the medial aspect of the pleural cavity on the right side. (B) On day 2, after needle thoracentesis on the right side, the right pneumothorax has resolved and a large left pneumothorax has developed with extensive collapse of the left lung. (C) After needle thoracentesis on the left side, the left pneumothorax has decreased in size and inflation of the left lung has increased. (D) On day 21, the pneumothorax findings have resolved, but an opacity is present in the left lower lobe that has persisted since day 16.", "modalities": ["x-ray"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/N-10000083/fig/2.jpg"], "caption": "(A) Chest ultrasonography with color Doppler, performed on day 21. (B) Chest CT angiography, performed on day 23. (C) Chest CT angiography, performed on day 149.", "detailed_caption": "(A) Ultrasonography of the chest with color Doppler on day 21 revealed a predominantly echogenic mass in the left lower lobe with a suspected arterial supply from the abdominal aorta. (B) CT angiography of the chest on day 23 confirmed a heterogeneous masslike area of consolidation in the lingula and left lower lobe with a feeding artery arising from the abdominal aorta. (C) Follow-up CT angiography on day 149 showed that the previous area of consolidation has been replaced by hyperlucency suggestive of cystic changes and air trapping.", "modalities": ["ultrasound", "ct", "angiography"]}], "diagnosis": "Intralobar bronchopulmonary sequestration", "standardized_diagnosis": [{"original_term": "Intralobar bronchopulmonary sequestration", "corrected_term": null, "code": "LA75.6", "title": "Intralobar sequestration of lung", "chapter": "Diseases of the respiratory system", "primary": true}]}, "year": 2024, "classification": "Cardiovascular and respiratory disorders"}
+{"pmid": "N-10000099", "patient_info": {"basic_info": "A 79-year-old man was admitted to this hospital because of involuntary movements on the left side and transient unresponsiveness. The patient had been in his usual state of health until 9 months before admission, when involuntary movements of the left shoulder and left side of the face developed. The movements were described by the patient as twitching, were not associated with a change in the level of consciousness, and resolved after 1 to 2 minutes. During the next 6 months, the patient had similar episodes approximately once per month, but the episodes increased in duration, lasting 5 to 6 minutes. Three months before admission, the episodes of involuntary movements increased in frequency. The physical examination was normal. Results of kidney-function tests were normal, as were blood levels of glucose and electrolytes, except for the sodium level, which was 129 mmol per liter (reference range, 135 to 145). There was a history of inappropriate antidiuretic hormone secretion, and the sodium level was similar to levels obtained during the past 4 years. Two months before admission, the patient reported that the episodes of involuntary movements had increased in both frequency and duration, occurring once or twice per day and lasting approximately 10 minutes. Episodes began with tingling and numbness in the left leg that prompted the patient to voluntarily stomp the left foot to relieve the uncomfortable sensation. Then, the patient had involuntary movements that he described as an uncontrollable invisible force moving the left leg and arm, with hyperextension of the arm backward and pronation of the wrist. There was associated numbness in the distal portions of the left third, fourth, and fifth fingers and involuntary movement of the left cheek. No prodromal symptoms occurred. The patient had awareness during the episodes, and after the episodes, he felt fatigued but had a normal level of consciousness, without confusion. Three weeks before admission, the patient reported that the episodes of involuntary movements still occurred on a daily basis but had decreased in duration and involved only the left leg, without abnormal movements of the arm or face. Dizziness, headache, and weakness had developed and were attributed to the use of levetiracetam. On the morning of admission, an episode of involuntary movements of the left leg and left shoulder occurred and persisted for 1 hour. Several hours after the symptoms abated, the patient's wife found the patient to be unresponsive; he was sitting in a chair. Emergency medical services were called, and when they arrived, the patient was responsive. The fingerstick blood glucose level was 180 mg per deciliter (10.0 mmol per liter) and the blood pressure 110/80 mm Hg. The patient was transported to the emergency department of this hospital for further evaluation. In the emergency department, the patient reported dysuria and increased urinary frequency. The patient's daughter noted that he had been more anxious during the past 3 years and occasionally had trouble with memory. Other medical history included Barrett's esophagus, benign prostatic hypertrophy, chronic hepatitis B virus infection, eczema, gastroesophageal reflux disease, hypertension, nonischemic cardiomyopathy, and osteoporosis. There was no history of head trauma or extended loss of consciousness. Medications included aspirin, atorvastatin, doxazosin, finasteride, omeprazole, metoprolol, sacubitril, and valsartan. There were no known drug allergies. The patient was a lifelong nonsmoker and drank alcohol rarely; he did not use illicit drugs. His mother had had gastric cancer, and his sister had had esophageal cancer; there was no family history of seizures. On examination, the temporal temperature was 36.8°C, the blood pressure 152/97 mm Hg, the pulse 65 beats per minute, the respiratory rate 16 breaths per minute, and the oxygen saturation 96% while the patient was breathing ambient air. The body-mass index was 21.7. The blood pressure decreased to 130/63 mm Hg with standing. The patient was alert and interactive. The lower jaw was held to the left, but the nasolabial folds and smile were symmetric with activation. There were nonrhythmic, nonstereotyped, writhing movements of the left arm. Tone was normal, and strength was assessed as 5 out of 5 in the arms and legs. Results of liver-function and kidney-function tests were normal, as were blood levels of glucose and electrolytes, except for the sodium level, which was 125 mmol per liter. The lactate level was 2.1 mmol per liter (19 mg per deciliter; reference range, 0.5 to 2.0 mmol per liter [5 to 18 mg per deciliter]). The urinalysis was normal.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/N-10000099/fig/1.jpg"], "caption": "(A) MRI of the head performed three months before admission, T1-weighted post-contrast image. (B) CT angiogram of the head and neck, coronal maximum-intensity-projection image at the level of the carotid bifurcations.", "detailed_caption": "(A) MRI of the head performed three months before admission, T1-weighted image obtained after the administration of intravenous contrast material, shows a focus of cortical enhancement in the right middle frontal gyrus that was thought to be a small vascular anomaly. (B) CT angiogram of the head and neck, coronal maximum-intensity-projection image derived at the level of the carotid bifurcations, shows heavily calcified atherosclerotic plaque with severe stenosis of the distal right common carotid artery, extending into the proximal right internal carotid artery.", "modalities": ["mri", "ct", "angiography"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/N-10000099/fig/2.jpg"], "caption": "Doppler ultrasound of the carotid arteries.", "detailed_caption": "Doppler ultrasound image of the carotid arteries shows elevated Doppler flow velocities within the proximal right internal carotid artery. The Doppler waveform contours have poststenotic turbulence.", "modalities": ["ultrasound"]}], "diagnosis": "Limb-shaking transient ischemic attacks", "standardized_diagnosis": [{"original_term": "Transient ischemic attack", "corrected_term": null, "code": "8B10.Z", "title": "Transient ischaemic attack", "chapter": "Diseases of the nervous system", "primary": true}]}, "year": 2023, "classification": "Neurological disorders"}
+{"pmid": "N-10000117", "patient_info": {"basic_info": "A 71-year-old woman with recurrent breast cancer and diffuse cutaneous systemic sclerosis presented with 7 months of progressive fatigue and dyspnea on exertion. Two months before admission, she developed worsening dyspnea, palpitations, and dizziness. Laboratory studies revealed hemolytic anemia with low haptoglobin (<15 mg/dl), elevated lactate dehydrogenase (675 U/liter), and schistocytes on peripheral blood smear. Direct antiglobulin test was negative, complement levels were low, and a low titer of cold agglutinins was present. Testing for antibodies against β2-glycoprotein I and cardiolipin was negative, as was lupus anticoagulant screening. Flow cytometry showed no aberrant clonal population or evidence of paroxysmal nocturnal hemoglobinuria. CT of the chest, abdomen, and pelvis showed bilateral mediastinal and hilar lymphadenopathy unchanged from 2 years earlier. On examination, she had jaundice, scleral icterus, a well-healed lumpectomy scar on the left breast, mild skin thickening on hands and feet, and a BMI of 17. Laboratory findings on admission included hematocrit 14.8%, hemoglobin 5.3 g/dl, platelet count 43,000/μl, reticulocyte count 15.8%, elevated ferritin (18,050 μg/liter), total bilirubin 4.1 mg/dl, creatinine 2.87 mg/dl, and proteinuria with protein:creatinine ratio 6.41.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/N-10000117/fig/1.jpg"], "caption": "(A–C) Peripheral-blood smear, Wright-Giemsa staining.", "detailed_caption": "Peripheral-blood smear with Wright-Giemsa staining showing (A) anisopoikilocytosis and schistocytes (arrows), (B) teardrop cells (arrows), and (C) immature myeloid precursors (arrow) and nucleated red cells (arrowheads).", "modalities": ["pathology"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/N-10000117/fig/2.jpg"], "caption": "(A) 18F-FDG PET-CT, anteroposterior maximum intensity projection. (B) 18F-FDG PET-CT, sagittal view, spine. (C) CT, sagittal view, spine. (D) 18F-FDG PET-CT, axial view, pelvis. (E) CT, axial view, pelvis.", "detailed_caption": "18F-fluorodeoxyglucose (FDG) positron-emission tomography-CT showing (A) anteroposterior maximum intensity projection with diffuse, heterogeneous, abnormally increased FDG uptake in the axial and appendicular skeleton (arrows). (B) Sagittal images showing multiple focal sites of abnormal uptake in the spine (arrows), with no correlative lytic or blastic bone lesions on (C) CT. (D) Axial images of the pelvis showing multiple focal sites of abnormal uptake in the iliac bones and sacrum (arrows), with no correlative lytic or blastic bone lesions on (E) CT.", "modalities": ["ct", "pet/spect/nuclear"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/N-10000117/fig/3.jpg"], "caption": "(A) Bone marrow core biopsy, H&E staining. (B) Bone marrow core biopsy, immunohistochemical staining for MNF116 (cytokeratin). (C) Bone marrow core biopsy, immunohistochemical staining for estrogen receptor.", "detailed_caption": "Core-biopsy specimens of bone marrow showing (A) infiltration of atypical nonhematopoietic cells (outlined by dashed lines) on hematoxylin and eosin staining. (B) Immunohistochemical staining showing membranous staining for MNF116 (cytokeratin) in brown. (C) Nuclear staining for estrogen receptor in brown in the atypical cells.", "modalities": ["pathology"]}, {"type": "tab", "id": 1, "subfig": null, "path": ["images/N-10000117/tab/4.jpg"], "caption": "Laboratory results on admission.", "detailed_caption": "Laboratory data showing on admission: hematocrit 14.8%, hemoglobin 5.3 g/dl, white-cell count 13,340/μl with 82.1% neutrophils, platelet count 43,000/μl, mean corpuscular volume 101.4 fl, reticulocyte count 15.8%, prothrombin time 16.8 sec (INR 1.4), d-dimer 9321 ng/ml, haptoglobin <10 mg/dl, lactate dehydrogenase 5896 U/liter, ferritin 18,050 μg/liter, total bilirubin 4.1 mg/dl, direct bilirubin 0.4 mg/dl, albumin 3.8 g/dl, alanine aminotransferase 58 U/liter, aspartate aminotransferase 135 U/liter, alkaline phosphatase 77 U/liter.", "modalities": ["lab"]}], "diagnosis": "Metastatic breast carcinoma with extensive bone marrow involvement", "standardized_diagnosis": [{"original_term": "Breast carcinoma", "corrected_term": null, "code": "2C6Y&XH63D2", "title": "Breast carcinoma NOS", "chapter": "Neoplasms", "primary": false}, {"original_term": "Metastatic breast carcinoma", "corrected_term": null, "code": "2C6Y", "title": "Metastatic breast carcinoma [primary breast carcinoma spreading elsewhere]", "chapter": "Neoplasms", "primary": true}, {"original_term": "Bone marrow metastasis", "corrected_term": null, "code": "2E03", "title": "bone marrow metastasis", "chapter": "Neoplasms", "primary": false}]}, "year": 2023, "classification": "Neoplastic diseases"}
+{"pmid": "N-10000023", "patient_info": {"basic_info": "A 12-year-old boy with autism was admitted to this hospital because of decreased vision in both eyes. The patient had been in his usual state of health until 6 weeks before this admission, when he began to have difficulty seeing in both eyes. His vision was decreased when he woke up in the morning, improved throughout the day, and worsened again at night. Three weeks before the current admission, the patient told his parents about the vision changes. They took him to an optometry clinic for evaluation. Eyeglasses were not prescribed; a routine annual follow-up evaluation was scheduled. During the next 3 weeks, the patient noticed that the decrease in vision worsened. He typically walked on his toes and held onto his parents as he walked; however, 4 days before this admission, his parents noticed that he leaned on them heavily while walking. Two days before the current admission, they observed him walking into doors and walls and bumping into objects. On the day of this admission, the patient woke up screaming and panicked because he could not see. His parents brought him to the emergency department of this hospital. On evaluation, the patient reported that his vision had improved slightly throughout the day. He described darkening of his vision that was worse in the left eye than in the right eye. He was having difficulty identifying movement and details of objects, although he was able to see shapes and colors. The parents reported that the patient had been having puffiness and crusting of the eyes for 2 days, with no eye redness or pain. Review of systems was notable for 3 days of diarrhea and nausea. He had no fever, headache, rashes, mouth sores, joint pain, or weakness. The patient was born prematurely, at 7 months' gestation. Labor and delivery had taken place outside the hospital setting, and perinatal hypoxia had occurred. The patient had been taken urgently to another hospital, where he was resuscitated and then hospitalized in the neonatal intensive care unit for 2 months. The patient had autism and attention deficit–hyperactivity disorder (ADHD). He had developmental delays in speech, language, cognition, and fine motor skills. He had received all routine childhood vaccinations and was taking risperidone; there were no known drug allergies. The patient lived with his parents and older sister, all of whom were healthy. Ten months before this admission, they had moved from an urban area to a rural area in New England. The patient was in sixth grade and was enrolled in special education classes at school. He had been an avid player of video and virtual reality games, but his parents had removed the gaming systems from their home 2 months before the patient's vision changes had begun. He continued to watch videos on the computer and television; his parents noted that he did not sit close to the devices and sometimes looked at the wall instead of the screen. The patient's parents described him as a 'picky eater.' His diet consisted almost exclusively of hamburgers, french fries, ranch dressing, glazed doughnuts, and juice boxes. The patient avoided trying new foods and did not take vitamin pills or gummies because he disliked the taste or texture. On examination, the temporal temperature was 36.2°C, the blood pressure 104/71 mm Hg, the heart rate 94 beats per minute, and the oxygen saturation 98% while the patient was breathing ambient air. The height was 156 cm (70th percentile), the weight 40.3 kg (38th percentile), and the body-mass index (BMI; the weight in kilograms divided by the square of the height in meters) 16.6. The patient was pale, alert, interactive, and wary of the physical examination. Mild periorbital swelling was present. The visual acuity in both eyes was limited to hand motion. The pupils were symmetric and reactive to light, and the extraocular movements were full. Color-vision testing, automated perimetry, fundus photography, and optical coherence tomography could not be performed because the patient had poor vision and was unable to cooperate. A slit-lamp examination was notable only for keratinization of the conjunctiva in both eyes. A funduscopic examination revealed pallor of the optic disk in both eyes. Examination of the peripheral retina was limited because the patient was unable to cooperate. Strength, sensation, reflexes, and coordination were normal. A gait examination revealed toe walking; the patient asked for assistance when walking. The abdomen was nontender. Horizontal ridges were present on the toenails, and there were scattered bruises on the arms and legs. No ulcers or rashes were seen.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/N-10000023/fig/1.jpg"], "caption": "Clinical photograph of the toenails obtained on the day of admission.", "detailed_caption": "Clinical photograph of the toenails obtained on the day of the current admission shows horizontal ridges on the toenails.", "modalities": ["clinical"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/N-10000023/fig/2.jpg"], "caption": "(A) Head MRI, coronal T2-weighted sequence, including optic chiasm. (B) MRI of the optic radiations, axial T2-weighted sequence. (C) Orbit MRI, high-resolution coronal fluid-sensitive short-tau inversion recovery (STIR) sequence. (D) Orbit MRI, high-resolution coronal T2-weighted fat-suppressed sequence. (E) Sagittal three-dimensional fluid-attenuated inversion recovery (FLAIR) MRI of the calvarium and intracranial contents.", "detailed_caption": "(A) Coronal T2-weighted image of the head and optic chiasm shows no abnormalities. (B) Axial T2-weighted image of the optic radiations shows no abnormalities. (C) High-resolution coronal image from a fluid-sensitive short-tau inversion recovery sequence of the orbits shows a very subtle hyperintense signal in the central portion of the optic nerves (arrow), which is more conspicuous in the left eye than in the right eye. (D) High-resolution coronal T2-weighted fat-suppressed image of the orbits shows no abnormal enhancement in the optic nerves or elsewhere in the orbit. (E) Sagittal three-dimensional image from a fluid-attenuated inversion recovery sequence shows marked thickening of the calvarium (arrow), without focal lesions; the intracranial contents appear normal.", "modalities": ["mri"]}, {"type": "tab", "id": 1, "subfig": null, "path": ["images/N-10000023/tab/3.jpg"], "caption": "Laboratory results on admission.", "detailed_caption": "Laboratory data on admission shows white-cell count 5700 per μl, hemoglobin 12.3 g/dl, hematocrit 37.0%, mean corpuscular volume 89.4 g/dl, platelet count 216,000 per μl, sodium 137 mmol/liter, potassium 4.1 mmol/liter, chloride 104 mmol/liter, carbon dioxide 20 mmol/liter, urea nitrogen 6 mg/dl, creatinine 0.38 mg/dl, glucose 77 mg/dl, aspartate aminotransferase 17 U/liter, alanine aminotransferase 20 U/liter, alkaline phosphatase 422 U/liter, total bilirubin 0.4 mg/dl, albumin 3.6 g/dl, total protein 5.9 g/dl, prothrombin time 17.1 sec, prothrombin-time international normalized ratio 1.4.", "modalities": ["lab"]}], "diagnosis": "Nutritional optic neuropathy due to multiple nutritional deficits, including vitamin A, copper, and zinc deficiencies", "standardized_diagnosis": [{"original_term": "Nutritional optic neuropathy", "corrected_term": null, "code": "9C40.Y", "title": "Nutritional optic neuropathy", "chapter": "Diseases of the visual system", "primary": true}, {"original_term": "Vitamin A deficiency", "corrected_term": null, "code": "5B55.Z", "title": "Vitamin A deficiency", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": false}, {"original_term": "Copper deficiency", "corrected_term": null, "code": "5B5K.6", "title": "Copper deficiency", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": false}, {"original_term": "Zinc deficiency", "corrected_term": null, "code": "5B5K.2", "title": "Zinc deficiency", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": false}]}, "year": 2024, "classification": "Endocrine and metabolic disorders"}
+{"pmid": "N-10000122", "patient_info": {"basic_info": "A 36-year-old man presented with 18 days of fevers up to 39.5°C, preceded by a sensation of throat swelling. He had been in his usual state of health until 18 days before presentation, when he began to have a sensation of swelling in his throat. Three days later, his temperature was 38.4°C. He was initially treated with amoxicillin-clavulanic acid for presumptive streptococcal pharyngitis after white spots were noted on his tonsils at an urgent care clinic. Fevers persisted despite treatment, along with headaches and fatigue. The patient reported that the lower part of his neck felt swollen and that moving his neck caused discomfort, but he had no dysphagia, odynophagia, rhinorrhea, or rash. His medical history included seasonal allergies. He had traveled to the southwestern United States with his wife 2 weeks before symptom onset. His wife had experienced fever and sore throat during the trip that resolved spontaneously. He lived in Massachusetts, worked in an office setting, and had moved to the United States from Asia 7 years prior. On examination at the infectious diseases clinic, he was afebrile with blood pressure 144/98 mm Hg, pulse 130 beats per minute, and oxygen saturation 99% on room air. The oropharynx appeared normal without tonsillar exudates. There was no lymphadenopathy. Firm, nontender thyroid tissue was palpable in the anterior portion of the neck.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/N-10000122/tab/1.jpg"], "caption": "Laboratory results obtained 11 days before presentation.", "detailed_caption": "Laboratory data obtained 11 days before the current presentation showed: hematocrit 43.8% (reference range 41.0-53.0), hemoglobin 14.6 g/dl (13.5-17.5), white-cell count 7320 per μl (4500-11,000), with differential count showing neutrophils 5100 per μl (1800-7700), lymphocytes 1430 per μl (1000-4800), monocytes 610 per μl (200-1200), eosinophils 130 per μl (0-900), basophils 30 per μl (0-300), immature granulocytes 20 per μl (0-100), and platelet count 375,000 per μl (150,000-400,000).", "modalities": ["lab"]}, {"type": "fig", "id": 1, "subfig": null, "path": ["images/N-10000122/fig/2.jpg"], "caption": "(A) Axial CT of the neck with intravenous contrast. (B) Coronal CT of the neck with intravenous contrast.", "detailed_caption": "(A) Axial CT image of the neck obtained after administration of intravenous contrast material showing heterogeneous appearance of the thyroid gland with a possible nodule in the right lobe. (B) Coronal CT image of the neck obtained after administration of intravenous contrast material showing heterogeneous appearance of the thyroid gland with a possible nodule in the right lobe.", "modalities": ["ct"]}], "diagnosis": "Subacute thyroiditis", "standardized_diagnosis": [{"original_term": "Subacute thyroiditis", "corrected_term": null, "code": "5A03.1", "title": "Subacute thyroiditis", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": true}]}, "year": 2024, "classification": "Endocrine and metabolic disorders"}
+{"pmid": "N-10000073", "patient_info": {"basic_info": "A 32-year-old man presented with 2 weeks of confusion and headache and 2 days of fever. His wife noted anxiety-like behavior beginning 1 month before admission, followed by confusion (unable to recall children's ages or identify the date) starting 2 weeks before admission, accompanied by headache and neck stiffness. Two days before admission, fever developed. On the day of admission, he had worsening confusion and somnolence. The patient had a 10-year history of Behçet's disease with multiple complications including pulmonary embolism, iliac artery aneurysm and dissection, bilateral renal vein thrombosis, erythema nodosum, deep venous thrombosis, uveitis, inferior vena cava clot with superior vena cava syndrome requiring thrombectomy, and renal infarction. Flares typically included oral ulcers, genital ulcers, uveitis, or fever. He also had a history of lymphocyte-predominant meningitis 17 months prior and COVID-19 16 months prior. On examination, he was somnolent but arousable, fluctuating alertness, intermittently able to answer simple questions, temperature 39.5°C, oriented to person and place but not time, no neck stiffness, mild left eye injection, no oral or skin lesions, able to move arms and legs with no focal neurologic findings noted.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/N-10000073/tab/1.jpg"], "caption": "Laboratory results on admission.", "detailed_caption": "Laboratory data on admission showed hemoglobin 14.5 g/dl, hematocrit 44.2%, white cell count 11,760/μl with neutrophils 9430/μl, lymphocytes 1100/μl, monocytes 1080/μl, eosinophils 800/μl, basophils 300/μl, platelet count 208,000/μl. HIV and treponemal antibodies were nonreactive, cryptococcal antigen negative, tuberculosis interferon-γ release assay negative, C-reactive protein 39.1 mg/L (reference <8.0), erythrocyte sedimentation rate 24 mm/hr (reference 0-13).", "modalities": ["lab"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/N-10000073/fig/2.jpg"], "caption": "(A–F) MRI of the head performed on hospital day 5, FLAIR sequence.", "detailed_caption": "MRI of the head performed on hospital day 5 showed fluid-attenuated inversion recovery (FLAIR) images with patchy hyperintense signal abnormalities in the pons (A), midbrain (B), inferior thalami (C), right lentiform nucleus (C,D), right posterior limb of internal capsule (E), left anterior thalamus (E), and right caudate head with upper anterior limb of internal capsule (F). No associated restricted diffusion, abnormal enhancement, hemorrhage, or mass effect. No evidence of acute arterial infarction or venous sinus thrombosis.", "modalities": ["mri"]}], "diagnosis": "Encephalitis due to Behçet's disease", "standardized_diagnosis": [{"original_term": "Behçet's disease", "corrected_term": null, "code": "4A62", "title": "Behçet disease", "chapter": "Diseases of the skin", "primary": true}, {"original_term": "Encephalitis", "corrected_term": null, "code": "1D00.Z", "title": "encephalitis NOS", "chapter": "Diseases of the nervous system", "primary": false}]}, "year": 2022, "classification": "Infectious and immunologic disorders"}
+{"pmid": "N-10000125", "patient_info": {"basic_info": "A 43-year-old female patient presented with a left-sided neck mass discovered one month prior. The mass was occasionally accompanied by spontaneous pain and showed progressive growth, measuring approximately 2.0cm×2.0cm at presentation. The patient had no fever, cough, or sputum production. She experienced occasional radiating headaches and intermittent left-sided back pain lasting several seconds that began 20 days prior, sometimes accompanied by chest tightness. She denied nausea, vomiting, sore throat, dysphagia, dyspnea, palpitations, or numbness of the limbs, joints, teeth, or face. The patient had previously received anti-inflammatory treatment with cephalosporins at an outside hospital with slight symptom relief, but symptoms recurred after discontinuation. A prior neck lymph node aspiration biopsy at a local hospital showed lymphocytic proliferative changes. Past medical history included a lymph node aspiration biopsy performed on May 28, 2021, at Xi'an Jiaotong University First Affiliated Hospital, with pathology results on May 31 showing cord-like lymphocytic proliferative changes, suggestive of Castleman disease based on immunohistochemistry. Physical examination revealed a hard mass measuring approximately 2.0cm×2.0cm at the anterior border of the left sternocleidomastoid muscle, with tenderness on pressure, poor mobility, no surface redness, ulceration, or elevated skin temperature, and no enlargement of ipsilateral subclavicular or axillary lymph nodes.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/N-10000125/fig/1.jpg"], "caption": "(A) Electronic nasopharyngolaryngoscopy of nasopharyngeal region. (B) Electronic nasopharyngolaryngoscopy of left epiglottis. (C) Electronic nasopharyngolaryngoscopy of bilateral vocal cords in open position. (D) Electronic nasopharyngolaryngoscopy of bilateral vocal cords during movement. (E) Electronic nasopharyngolaryngoscopy of bilateral vocal cords in closed position. (F) Electronic nasopharyngolaryngoscopy of lingual tonsil.", "detailed_caption": "(A) Nasopharyngeal lymphoid tissue hyperplasia, electronic nasopharyngolaryngoscopy. (B) Left epiglottic cyst. (C) Bilateral vocal cords in open position. (D) Bilateral vocal cords during movement. (E) Bilateral vocal cords in closed position. (F) Lingual tonsil lymphoid follicular hyperplasia. The examination showed nasal septum deviation, epiglottic cyst, bilateral vocal cord nodules, and reflux laryngitis.", "modalities": ["endoscopy"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/N-10000125/fig/2.jpg"], "caption": "Neck color Doppler ultrasound, left cervical region II.", "detailed_caption": "Neck color Doppler ultrasound showing hypoechoic mass in left cervical region II (enlarged lymph node?).", "modalities": ["ultrasound"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/N-10000125/fig/3.jpg"], "caption": "Left cervical lymph node pathology, H&E staining. Immunohistochemistry: CD30 (scattered cells positive). In situ hybridization: EBER negative. PAS stain negative. Silver stain negative. Acid-fast stain negative.", "detailed_caption": "Pathology results showing lymph nodes from left cervical regions II and III with reactive lymphoid follicular hyperplasia, granulomatous inflammation with central abscess formation, suggestive of infectious disease with high possibility of cat scratch disease. Immunohistochemistry: CD30 (scattered cells positive). In situ hybridization: EBER negative. Special stains: PAS stain negative, silver stain negative, acid-fast stain negative.", "modalities": ["pathology"]}], "diagnosis": "Cat scratch disease", "standardized_diagnosis": [{"original_term": "Cat scratch disease", "corrected_term": null, "code": "1B98", "title": "Cat-scratch disease", "chapter": "Certain infectious or parasitic diseases", "primary": true}]}, "year": 2022, "classification": "Infectious and immunologic disorders"}
+{"pmid": "N-10000123", "patient_info": {"basic_info": "A 42-year-old male patient presented with polyuria, polydipsia, nausea, vomiting, and fatigue for 3 months. He had nocturia 3-4 times per night with daily urine output of 3500-7000 ml, accompanied by thirst, polydipsia, nausea, vomiting, poor appetite, and limb weakness. His past medical history was significant for IgG4-related disease diagnosed in 2023 based on left submandibular lymph node biopsy. He had previously experienced left submandibular swelling in 2020, right eyelid swelling in 2021, and recurrent orbital swelling with pigmentation in 2023. Physical examination revealed right eyelid swelling, clear consciousness, normal visual fields and visual acuity, with no other significant findings on cardiopulmonary and abdominal examination.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/N-10000123/fig/1.jpg"], "caption": "(A) Clinical photograph, right eyelid, before glucocorticoid pulse therapy. (B) Clinical photograph, right eyelid, 10 days after glucocorticoid pulse therapy. (C) Clinical photograph, right eyelid, 1 week after continued glucocorticoid combined with immunosuppressant therapy.", "detailed_caption": "(A) Physical examination before glucocorticoid pulse therapy showing right eyelid swelling. (B) 10 days after glucocorticoid pulse therapy, right eyelid swelling significantly improved. (C) After 1 week of continued glucocorticoid combined with immunosuppressant therapy, right eyelid swelling further improved.", "modalities": ["clinical"]}, {"type": "tab", "id": 1, "subfig": null, "path": ["images/N-10000123/tab/2.jpg"], "caption": "Laboratory results before treatment.", "detailed_caption": "Laboratory results before treatment showed: GH 0.42 ng/ml, PRL 24.56 ng/ml, LH 1.90 mIU/ml, FSH 3.20 mIU/ml, T 1.04 ng/ml, E2 20.20 pg/ml, P 0.30 ng/ml, ACTH 23.9 pg/ml, ROC 10.9 μg/dl, FT3 2.31 pg/ml, FT4 1.30 ng/dl, TSH 1.93 μIU/ml, IgG4 4362.0 mg/dl. Other findings included urine specific gravity 1.004, ESR 18 mm/h, uric acid 498.9 μmol/L, fasting blood glucose 2.73 mmol/L, serum sodium 149.30 mmol/L, serum potassium 3.47 mmol/L.", "modalities": ["lab"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/N-10000123/fig/3.jpg"], "caption": "(A) Pre-treatment sagittal MRI of the pituitary gland. (B) Pre-treatment coronal MRI of the optic chiasm and bilateral optic tracts. (C) Pre-treatment sagittal contrast-enhanced MRI of the pituitary stalk, diameter 5.79 mm. (D) Pre-treatment coronal contrast-enhanced MRI of the pituitary gland.", "detailed_caption": "(A) Pre-treatment sagittal MRI showing mild superior pituitary bulging (height ~8.4 mm) with homogeneous signal. (B) Pre-treatment coronal view showing optic chiasm and bilateral optic tract swelling. (C) Pre-treatment sagittal enhanced view showing markedly thickened pituitary stalk (diameter 5.79 mm) with strong enhancement. (D) Pre-treatment coronal enhanced view showing enlarged pituitary with homogeneous signal. Loss of posterior pituitary T1 hyperintensity was noted.", "modalities": ["mri"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/N-10000123/fig/4.jpg"], "caption": "(A-C) PET of the pituitary region, coronal, sagittal, and axial views, SUVmax ~4.4. (D-F) CT of the pituitary region, coronal, sagittal, and axial views.", "detailed_caption": "(A-C) PET images (coronal, sagittal, and axial views) showing band-like hypermetabolic signal in the pituitary region with radiotracer uptake in the thickened pituitary stalk area (SUVmax ~4.4). (D-F) CT images (coronal, sagittal, and axial views) showing slightly hyperdense area in the pituitary region with thickened pituitary stalk and blurred margins.", "modalities": ["pet/spect/nuclear", "ct"]}], "diagnosis": "IgG4-related hypophysitis", "standardized_diagnosis": [{"original_term": "IgG4-related hypophysitis", "corrected_term": null, "code": "5A61.0", "title": "IgG4-related hypophysitis", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": true}]}, "year": 2025, "classification": "Infectious and immunologic disorders"}
+{"pmid": "N-10000105", "patient_info": {"basic_info": "A 71-year-old woman presented with a 3-day history of headache and fatigue, followed by sudden onset of confusion and language production difficulties while typing at work. The confusion resolved briefly but recurred later that evening. She had a history of myasthenia gravis (diagnosed 18 years prior, treated with mycophenolate mofetil for 7 years), vitamin B12 deficiency, and hypertension. Past surgical history included supracervical hysterectomy with bilateral salpingo-oophorectomy (31 years prior), transsternal thymectomy and wedge resection of right upper lobe for cortical thymoma (22 years prior), and sigmoid colectomy for recurrent diverticulitis (7 years prior). On examination at the current hospital, she had severe expressive aphasia, followed commands intermittently, disconjugate gaze at rest, motor strength 5/5 in left extremities and 4/5 in right extremities. Blood phosphorus was 2.2 mg/dL (reference range 2.6-4.5); other routine labs were normal.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/N-10000105/fig/1.jpg"], "caption": "(A,B) Brain MRI performed on hospital day 2, T1-weighted sequence with contrast, axial (A) and coronal (B) views. (C) Brain MRI, T2-weighted FLAIR sequence, axial view. (D) Brain MRI, T2-weighted FLAIR sequence, coronal view.", "detailed_caption": "(A) Axial T1-weighted image obtained on hospital day 2 after contrast administration shows masslike heterogeneous enhancement centered in the left centrum semiovale extending to cortex. (B) Coronal T1-weighted image obtained on hospital day 2 after contrast shows same heterogeneous enhancement. (C) Axial T2-weighted FLAIR image shows surrounding signal hyperintensity and mass effect suggestive of vasogenic edema. (D) Coronal T2-weighted FLAIR image shows surrounding signal hyperintensity and mass effect.", "modalities": ["mri"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/N-10000105/fig/2.jpg"], "caption": "Frozen section of brain tissue, H&E staining.", "detailed_caption": "Frozen section of brain tissue examined intraoperatively shows brain parenchyma with atypical cells suggestive of cancer, with no acute inflammation present (H&E staining).", "modalities": ["pathology"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/N-10000105/fig/3.jpg"], "caption": "(A) Susceptibility-weighted imaging on postoperative day 1. (B) T2-weighted FLAIR imaging. (C) Three-dimensional T1-weighted imaging after contrast. (D) Diffusion-weighted imaging. (E) Coronal three-dimensional T1-weighted imaging after contrast.", "detailed_caption": "(A) Susceptibility-weighted imaging on postoperative day 1 shows expected blooming indicating blood products at biopsy site. (B) T2-weighted FLAIR imaging shows worsening and expansion of signal hyperintensity compared to preoperative MRI. (C) Three-dimensional T1-weighted imaging after contrast shows worsening heterogeneous enhancement. (D) Diffusion-weighted imaging shows nonspecific punctate foci of restricted diffusion near biopsy site. (E) Coronal three-dimensional T1-weighted image after contrast shows enhancement surrounding biopsy site.", "modalities": ["mri"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/N-10000105/fig/4.jpg"], "caption": "Brain tissue, H&E staining.", "detailed_caption": "Permanent section of brain tissue shows dense collections of neutrophils in microabscesses (H&E staining).", "modalities": ["pathology"]}, {"type": "fig", "id": 5, "subfig": null, "path": ["images/N-10000105/fig/5.jpg"], "caption": "(A) Gram staining of brain aspirate specimen, initial sample. (B) Gram staining of brain aspirate specimen, repeat sample. (C) MALDI-TOF mass spectrometry of brain aspirate specimen.", "detailed_caption": "(A) Initial Gram's staining of brain aspirate specimen shows few gram-negative rods. (B) Repeat Gram's staining shows gram-positive organisms. (C) MALDI-TOF mass spectrometry results establish definitive diagnosis of Listeria monocytogenes infection.", "modalities": ["pathology"]}], "diagnosis": "Brain abscess due to infection with Listeria monocytogenes", "standardized_diagnosis": [{"original_term": "Brain abscess", "corrected_term": null, "code": "1D03.3Z", "title": "abscess of brain", "chapter": "Diseases of the nervous system", "primary": true}, {"original_term": "Listeriosis", "corrected_term": null, "code": "1C1A.Z", "title": "Listeriosis", "chapter": "Certain infectious or parasitic diseases", "primary": false}]}, "year": 2024, "classification": "Infectious and immunologic disorders"}
+{"pmid": "N-10000148", "patient_info": {"basic_info": "A 34-year-old woman presented with hypercortisolism in the context of a metastatic pancreatic neuroendocrine tumor. She had been well until 4 years before presentation, when abdominal pain, diarrhea, and ascites developed, leading to the diagnosis of a pancreatic neuroendocrine tumor with metastases to the liver and spleen. Seven months before presentation, she was evaluated for weight gain, hyperglycemia, and changes in mood, and was found to have elevated blood levels of corticotropin and elevated salivary and urinary levels of cortisol. MRI of the head revealed a pituitary lesion measuring 1.3 cm in greatest dimension, and blood obtained from the inferior petrosal sinus identified a pituitary source of corticotropin secretion. Two transsphenoidal resections of the pituitary lesion were performed, but cortisol and corticotropin levels remained elevated. Ten days before presentation, the patient began to have confusion, urinary incontinence, and recurrent falls, with atypical impulsive behaviors. On examination at this hospital, the temperature was 36.9°C, blood pressure 152/87 mm Hg, pulse 77 beats per minute, respiratory rate 18 breaths per minute, and oxygen saturation 97% while breathing ambient air. The patient was alert and oriented with a rounded face, acne, hair thinning, increased abdominal adiposity with palpable striae, and several bruises on her arms and legs.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/N-10000148/fig/1.jpg"], "caption": "(A) CT of the chest, axial view, lung windows. (B) CT of the chest, axial view, soft-tissue windows. (C) CT of the chest, coronal view, lung windows. (D) CT of the chest, sagittal view, lung windows.", "detailed_caption": "(A) CT chest axial view with lung windows showing patchy consolidation in the right upper lobe with areas of cavitation (black arrow) and associated tree-in-bud opacities (black arrowheads). (B) CT chest axial view with soft-tissue windows showing small bilateral pleural effusions (white arrows). (C) CT chest coronal view with lung windows showing areas of cavitation (black arrows) and small bilateral pleural effusions (white arrows). (D) CT chest sagittal view with lung windows showing areas of cavitation (black arrows) and small bilateral pleural effusions (white arrow).", "modalities": ["ct"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/N-10000148/fig/2.jpg"], "caption": "(A) Papanicolaou staining of a bronchoalveolar-lavage cytologic smear. (B) Culture of bronchoalveolar-lavage sample after incubation at 30°C. (C) Microscopic examination of mold colonies with lactophenol cotton-blue stain.", "detailed_caption": "(A) Papanicolaou staining of a cytologic smear from bronchoalveolar-lavage (BAL) sample showing large (8 to 12 microns in diameter) thick-walled yeast cells with broad-based budding. (B) Culture of BAL sample after incubation at 30°C showing slowly growing mold colonies that became white and cottony as they matured. (C) Microscopic examination of mold colonies with lactophenol cotton-blue stain showing septate hyphae with short or long conidiophores topped by round-to-pear-shaped reproductive structures known as conidia.", "modalities": ["pathology"]}, {"type": "tab", "id": 1, "subfig": null, "path": ["images/N-10000148/tab/3.jpg"], "caption": "Laboratory results on presentation.", "detailed_caption": "Laboratory data on presentation at this hospital showed hematocrit 30.9%, hemoglobin 9.2 g/dl, white-cell count 2240 per μl with 83.5% neutrophils, 7.6% lymphocytes, platelet count 117,000 per μl, and mean corpuscular volume 78.2 fl.", "modalities": ["lab"]}], "diagnosis": "Infection with Blastomyces dermatitidis", "standardized_diagnosis": [{"original_term": "Blastomycosis", "corrected_term": null, "code": "1F22", "title": "Blastomycosis", "chapter": "Certain infectious or parasitic diseases", "primary": true}]}, "year": 2022, "classification": "Infectious and immunologic disorders"}
+{"pmid": "N-10000144", "patient_info": {"basic_info": "A 43-year-old man from Panama was evaluated at the multidisciplinary Pulmonary Nodule Clinic because of an incidentally found pulmonary nodule. The patient was in his usual state of good health but requested imaging due to a family history of cancer. He had no fever, shortness of breath, cough, wheezing, hemoptysis, headache, vision changes, oral ulcers, nausea, vomiting, abdominal pain, arthralgias, or rash. He had a history of gastroesophageal reflux disease. The patient worked in the finance industry and had previously been a health care worker. He was born in northern South America and had moved to southern Central America 5 years earlier. He had extensive travel history throughout the Americas, Europe, Africa, Mediterranean, and Pacific Islands. He had smoked two cigarettes daily and one cigar every 3 months for 2 years. His family history included breast cancer in his mother, prostate and pancreatic cancers in his father, cancer of unknown primary origin in his maternal grandfather, and ovarian cancer in his paternal grandmother. On evaluation, he appeared well with normal vital signs and clear lungs on auscultation. Laboratory results showed hemoglobin level 12.7 g/dL (reference range 13.5-17.5), white cell count 6970/μL, and platelet count 213,000/μL. The 5-hydroxyindoleacetic acid level in a 24-hour urine specimen and the chromogranin A level in blood were normal, as were pulmonary function testing and colonoscopy results.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/N-10000144/fig/1.jpg"], "caption": "CT of the neck, chest, and abdomen with intravenous contrast.", "detailed_caption": "CT of the neck, chest, and abdomen performed after administration of intravenous contrast material revealed a pulmonary nodule (measuring 12 mm by 13 mm) in the right middle lobe. The nodule has low attenuation and does not have calcification, macroscopic fat, or intense enhancement. Normal-sized lymph nodes are present in the right hilum, subcarinal area, and right paratracheal region.", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/N-10000144/fig/2.jpg"], "caption": "PET-CT scan of the chest, FDG modality, right middle lobe nodule (14 mm, SUVmax=3.8), right hilar lymph node (8 mm, SUVmax=6.7).", "detailed_caption": "18F-fluorodeoxyglucose (FDG)–positron-emission tomography (PET) and CT revealed FDG uptake in the right-middle-lobe nodule (measuring 14 mm in diameter), with a maximum standardized uptake value of 3.8. There was also FDG uptake in multiple normal-sized right inferior paratracheal, subcarinal, and hilar lymph nodes. A right hilar lymph node (measuring 8 mm in diameter) had a maximum standardized uptake value of 6.7.", "modalities": ["ct", "pet/spect/nuclear"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/N-10000144/fig/3.jpg"], "caption": "(A) Lymph node, H&E staining. (B) Lymph node, H&E staining, higher magnification. (C) Lymph node, Grocott–Gomori methenamine silver staining.", "detailed_caption": "(A) Hematoxylin and eosin staining shows necrotizing granulomatous inflammation effacing the residual lymph node. (B) At higher magnification, palisading histiocytic inflammation with rare giant cells and central necrosis is shown. (C) Grocott–Gomori methenamine silver special staining highlights numerous fungal forms that are round to ovoid, measure 3 to 4 μm in greatest dimension, and have focal narrow-based budding.", "modalities": ["pathology"]}], "diagnosis": "Histoplasmosis", "standardized_diagnosis": [{"original_term": "Histoplasmosis", "corrected_term": null, "code": "1F2A.Z", "title": "Histoplasmosis", "chapter": "Certain infectious or parasitic diseases", "primary": true}]}, "year": 2023, "classification": "Infectious and immunologic disorders"}
+{"pmid": "N-10000133", "patient_info": {"basic_info": "A 47-year-old female patient presented with a right adrenal mass discovered incidentally during physical examination 3 years ago. The mass was initially approximately 2.2 cm × 3.1 cm and remained untreated. A recent enhanced CT scan performed 10 days prior at a local hospital showed the right adrenal mass had increased in size to approximately 5.8 cm × 4.7 cm, suggesting a possible adrenal adenoma. The patient reported no symptoms throughout the disease course. She had no history of hypertension, diabetes, cardiac, pulmonary, or cerebrovascular diseases, denied smoking or alcohol use, and reported reduced menstrual flow. Physical examination revealed: temperature 36.5°C, pulse 72 beats/min, respiration 18 breaths/min, blood pressure 125/78 mmHg, height 163 cm, weight 63 kg, BMI 23 kg/m². The patient appeared well with clear consciousness and no signs of illness. Cardiopulmonary examination was normal. The abdomen was soft without distension, no palpable masses or tenderness, and no renal percussion pain bilaterally.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/N-10000133/fig/1.jpg"], "caption": "(A) Pre-operative CT plain scan, hepatorenal space. (B) Pre-operative CT, sagittal view. (C) Pre-operative enhanced CT, right adrenal gland region, lesion size approximately 5.83 cm × 5.15 cm.", "detailed_caption": "(A) Pre-operative CT plain scan showing a round soft tissue mass in the hepatorenal space with heterogeneous density. (B) Pre-operative sagittal view. (C) Pre-operative enhanced CT showing heterogeneous enhancement of the lesion closely related to the right adrenal gland, measuring approximately 5.83 cm × 5.15 cm, with unclear boundaries from the upper pole of the right kidney in some sections.", "modalities": ["ct"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/N-10000133/fig/2.jpg"], "caption": "Pre-operative adrenal ultrasound with contrast, right adrenal region.", "detailed_caption": "Pre-operative adrenal ultrasound contrast imaging showing a solid mass in the right adrenal region with unclear boundaries from the renal parenchyma. Based on contrast-enhanced ultrasound features, an adrenal tumor (likely malignant) was considered.", "modalities": ["ultrasound"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/N-10000133/fig/3.jpg"], "caption": "Adrenal tumor pathological examination, H&E staining, 400× magnification, tumor size 5.2 cm × 4.0 cm × 2.2 cm.", "detailed_caption": "Pathological examination of the adrenal tumor (HE staining, 400× magnification) showing tumor cells arranged in nests and sheets with vascular-rich stroma, acidophilic cytoplasm, mitotic figures >5/50HPF in hot spots, pathological mitotic figures, tumor necrosis, and capsular invasion. Tumor size: 5.2 cm × 4.0 cm × 2.2 cm.", "modalities": ["pathology"]}], "diagnosis": "Non-functioning adrenocortical carcinoma", "standardized_diagnosis": [{"original_term": "Non-functioning adrenocortical carcinoma", "corrected_term": null, "code": "2D11.Z", "title": "Adrenocortical carcinoma", "chapter": "Neoplasms", "primary": true}]}, "year": 2024, "classification": "Neoplastic diseases"}
+{"pmid": "N-10000140", "patient_info": {"basic_info": "A 12-year-old male patient presented with progressive weakness of all four limbs for over 1 day. He had a history of back trauma 6 hours before symptom onset when his shoulder and back hit a table corner while standing, causing severe pain. The patient first developed left hand grip weakness, which progressively evolved to right leg weakness, right hand grip weakness, and bilateral lower limb weakness, accompanied by urinary and fecal retention. He was admitted to the pediatric ICU with suspected spinal cord injury. The patient had normal birth and developmental history with no clear history of infection. On physical examination, he was conscious but in poor spirits with normal communication. A scratch scab was visible on the left shoulder near the midline. Upper limb muscle strength was grade 2 with reduced muscle tone, lower limb muscle strength was grade 0 with absent muscle tone. Superficial sensation and reflexes were absent below the T4 level, while deep sensation was preserved. All limb tendon reflexes could not be elicited, bilateral abdominal and cremasteric reflexes were absent, and pathological signs were negative.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/N-10000140/fig/1.jpg"], "caption": "Thoracic spine vascular angiography performed on day 5 of illness.", "detailed_caption": "Thoracic spine vascular angiography performed on day 5 of illness showing abnormal vessels on the right side of the lower thoracic segment (indicated in circle), suggesting high possibility of spinal vascular malformation", "modalities": ["angiography"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/N-10000140/fig/2.jpg"], "caption": "(A) Cervical and thoracic spine MRI, sagittal T2-weighted sequence, performed on day 12 of illness. (B) Cervical and thoracic spine MRI, sagittal T2-weighted sequence, performed on day 61 of illness.", "detailed_caption": "Cervical and thoracic spine MR sagittal T2 sequence. (A) Day 12 of illness showing strip-like high signal intensity from C5-T2 level within the spinal cord. (B) Day 61 of illness showing linear high signal from C5-T1 level within the spinal cord, appearing somewhat reduced compared to previous", "modalities": ["mri"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/N-10000140/fig/3.jpg"], "caption": "(A) Cervical and thoracic spine MRI, axial T2-weighted sequence, performed on day 12 of illness. (B) Cervical and thoracic spine MRI, axial T2-weighted sequence, performed on day 61 of illness.", "detailed_caption": "Cervical and thoracic spine MR axial T2 sequence. (A) Day 12 of illness showing typical 'owl's eye sign'. (B) Day 61 of illness, lesion appears somewhat reduced", "modalities": ["mri"]}], "diagnosis": "Acute spinal cord infarction", "standardized_diagnosis": [{"original_term": "Acute spinal cord infarction", "corrected_term": null, "code": "8B43.1", "title": "Acute venous infarction of the spinal cord", "chapter": "Diseases of the nervous system", "primary": true}]}, "year": 2025, "classification": "Neurological disorders"}
+{"pmid": "N-10000153", "patient_info": {"basic_info": "A 38-year-old man was evaluated at the cardiology clinic because of exertional chest discomfort. He had been a competitive athlete in the past and had remained an avid runner. Approximately 15 years before the current evaluation, while he was running, he had episodes of flushing with diffuse cutaneous swelling involving the face, lips, hands, and trunk, along with hives on the abdomen and legs and associated dyspnea. The first episode occurred in autumn and the second episode the following summer. After the second episode, he lost consciousness while sitting on a bench. The next day, he was evaluated at an urgent care center. A Holter monitor was placed, and a transthoracic echocardiogram (TTE) was reportedly normal. The patient consulted with an allergist, who made a diagnosis of food-related exercise-induced anaphylaxis with reactions to soybeans, chickpeas, and tahini, on the basis of the foods he had eaten before these episodes and the results of radioallergosorbent testing. An epinephrine autoinjector was prescribed for use during future episodes, but the anaphylaxis symptoms did not recur. Approximately 4 months before the current evaluation, during a routine 5-mile jog, the patient had a new sensation that he described as 'my heart beating out of my chest.' He rested, and the symptom subsided; he completed his run. One month later, during a bicycle ride, he had 'crampy' discomfort in the anterior chest, which abated when he stopped cycling. Two weeks before the current evaluation, during a jog of several miles, he had cramping pain in the anterior chest on the left side that gradually escalated over a 5-minute period. He started walking, and the pain abated; he ran for an additional 20 minutes without a recurrence of pain. He sought an evaluation in the cardiology clinic of this hospital to determine the cause of his symptoms and the safety of continued vigorous exercise. On evaluation in the cardiology clinic, a review of systems was negative for dyspnea, recent syncope, orthopnea, edema, cough, hemoptysis, and recent allergic symptoms. The patient ran or cycled four times per week and had previously completed a marathon. His medical history included attention deficit–hyperactivity disorder. Five years earlier, an episode of syncope had occurred in the context of multiple episodes of nonbloody diarrhea, abdominal discomfort, and chills. His surgical history included two colonic polypectomies, one 6 years before this evaluation and the other 1 month before this evaluation; pathological examination of the polyps had revealed lymphoid aggregates and hyperplastic polyps. The patient took no medications and reported no adverse reactions to medications. The patient worked in the financial sector and lived with his wife and children. He did not use tobacco, alcohol, or other substances. Multiple maternal relatives had had colon cancer, and an older brother had had colonic polyps removed in his fourth decade of life. There was a family history of hypertension. On examination, the blood pressure was 122/84 mm Hg (measured in both arms), the heart rate 54 beats per minute, and the oxygen saturation 99% while the patient was breathing ambient air. There were mild expiratory wheezes; the remainder of the examination was normal. An electrocardiogram (ECG) showed sinus bradycardia and anterior T-wave abnormalities, findings that had been observed on tracings obtained 5 years earlier during an evaluation for presyncope; a TTE obtained at that time had been normal. Sinus bradycardia and anterior T-wave abnormalities had not been observed on tracings obtained 15 years earlier. The white-cell count and platelet count were normal, as were blood levels of hemoglobin, electrolytes, calcium, and thyrotropin and results of renal-function tests. The high-sensitivity troponin level was 10 ng per liter (reference range, 0 to 14). Plasma metanephrines were undetectable, and the normetanephrine level was normal. The next day, a TTE showed no abnormalities of cardiac chamber size and function and no evidence of valvular dysfunction. An ambulatory patch heart monitor, applied to evaluate cardiac rhythm over a 2-week period, revealed sinus rhythm without arrhythmia. A cardiopulmonary exercise stress test was performed; the patient exercised for 19 minutes 17 seconds according to a treadmill protocol that increased incrementally to maximal effort with a respiratory exchange ratio of 1.12 and a maximum heart rate of 181 beats per minute (99% of the age-predicted maximum). At peak effort, the stress test did not reproduce symptoms, and he stopped because of leg fatigue. An ECG showed 0.5-mm horizontal ST-segment depression in leads III, aVF, V3, and V6, along with isolated premature ventricular contractions. The ventilatory efficiency was normal.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/N-10000153/fig/1.jpg"], "caption": "(A) Electrocardiogram obtained 15 years before the current presentation. (B) Electrocardiogram obtained 5 years before the current presentation. (C) Electrocardiogram obtained at the time of the current presentation. (D) Transthoracic echocardiogram, parasternal short-axis view of the heart. (E) Transthoracic echocardiogram. (F) Transthoracic echocardiogram.", "detailed_caption": "(A) Electrocardiogram obtained 15 years before the current presentation. (B) Electrocardiogram obtained 5 years before the current presentation. (C) Electrocardiogram obtained at the time of the current presentation. Anterior T-wave abnormalities from V1 to V3 are present on the ECG obtained at the time of the current presentation and on the ECG obtained 5 years earlier but not on the ECG obtained 15 years earlier. (D) Transthoracic echocardiogram obtained in the parasternal short-axis view of the heart showing normal origins of the left coronary artery (arrowheads). (E) Transthoracic echocardiogram showing normal origin of the right coronary artery (arrowheads). (F) Transthoracic echocardiogram showing another vessel anterior to the aorta with an unclear origin (arrows).", "modalities": ["electrophysiology", "ultrasound"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/N-10000153/fig/2.jpg"], "caption": "(A) Coronary CT angiogram, axial view, arterial phase, attenuation level of 218 Hounsfield units. (B) Pre-contrast CT, attenuation level of 50 Hounsfield units. (C) Delayed phase CT, attenuation level of 111 Hounsfield units. (D) CT, sagittal view. (E) Volume-rendered CT image. (F) 123I-metaiodobenzylguanidine (123I-MIBG) single-photon-emission CT (SPECT).", "detailed_caption": "(A) Coronary CT angiogram, axial view during the arterial phase, showing an intrapericardial mass (arrow), anterior to the heart and within the aortopulmonary groove, with heterogeneous enhancement and an attenuation level of 218 Hounsfield units (HU). (B) Pre-contrast CT image showing the mass with an attenuation level of 50 HU (arrow). (C) Delayed phase CT image showing the mass with an attenuation level of 111 HU (arrow). (D) Sagittal CT image showing that the proximal right coronary artery is encased by the mass (arrow). (E) Volume-rendered image showing the relationship of the mass (in purple) with the chambers on the right side (in blue) and on the left side (in red) and with the coronary arteries; there is evidence of narrowing of the left anterior descending coronary artery (black arrow), prominent venous drainage (white arrow), and feeding vessels arising from the right coronary artery (arrowheads). (F) 123I-metaiodobenzylguanidine (123I-MIBG) single-photon-emission CT (SPECT) showing moderate tracer uptake in the mass (arrow).", "modalities": ["ct", "pet/spect/nuclear"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/N-10000153/fig/3.jpg"], "caption": "(A) Cardiac MRI, T1-weighted sequence. (B) Cardiac MRI, T2-weighted sequence. (C) Cardiac MRI, first-pass perfusion after gadolinium-based contrast administration.", "detailed_caption": "(A) Cardiac MRI, T1-weighted image showing the heterogeneous mass is predominantly isointense (arrow). (B) T2-weighted image showing the mass is hyperintense with punctate foci of hypointensity, which results in a 'salt and pepper' appearance (arrow). (C) First-pass perfusion image obtained after the administration of gadolinium-based contrast material showing enhancement is intense and brisk (arrow).", "modalities": ["mri"]}], "diagnosis": "Cardiac paraganglioma with a germline mutation in the gene encoding succinate dehydrogenase subunit C (SDHC)", "standardized_diagnosis": [{"original_term": "Cardiac paraganglioma", "corrected_term": null, "code": "2D12.Y", "title": "paraganglioma NOS", "chapter": "Neoplasms", "primary": true}, {"original_term": "Germline mutation in succinate dehydrogenase subunit C", "corrected_term": null, "code": "LD24.GY", "title": "C syndrome", "chapter": "Developmental anomalies", "primary": false}]}, "year": 2022, "classification": "Neoplastic diseases"}
+{"pmid": "N-10000157", "patient_info": {"basic_info": "A 72-year-old man presented with a history of gastroesophageal reflux disease that had been well controlled with daily omeprazole therapy until 11 months before admission, when heartburn recurred despite treatment. He also noticed nausea after eating and early satiation. During the next 9 months, symptoms slowly increased in severity, and he adjusted his diet from solid food to soft solid food. Two months before admission, he sought evaluation at the gastroenterology clinic of another hospital. The glycated hemoglobin level was 6.1%. He had not eaten food for 24 hours before esophagogastroduodenoscopy (EGD), but the stomach could not be adequately visualized because there was a large amount of residual food; no intraluminal masses were seen. During the 2 months after evaluation, he adjusted his diet from soft solid food to blended solid food. Two weeks before admission, he adjusted his diet to primarily liquid food, such as nutritional supplement drinks, protein shakes, and ice cream. When he was no longer able to drink liquids, he sought evaluation at the emergency department. On examination, the temperature was 37.7°C, blood pressure 128/76 mm Hg, pulse 105 beats per minute, respiratory rate 18 breaths per minute, and oxygen saturation 97% while breathing ambient air. He was thin and had a nasogastric tube in place. The abdomen was flat, soft, and nondistended, with mild tenderness in the epigastrium on palpation.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/N-10000157/fig/1.jpg"], "caption": "(A) CT scan with intravenous contrast, axial view. (B) CT scan with intravenous contrast, axial view. (C) CT scan with intravenous contrast, coronal view.", "detailed_caption": "(A) CT scan performed after administration of intravenous contrast material, axial view, shows wall thickening at the antrum (arrowhead) and secondary distention of the stomach (arrow). (B) Additional axial image shows circumferential wall thickening at the incisura and pyloric canal (arrowhead). (C) Coronal image shows the antral thickening (arrowhead) and gastric distention (arrow).", "modalities": ["ct"]}, {"type": "tab", "id": 1, "subfig": null, "path": ["images/N-10000157/tab/2.jpg"], "caption": "Laboratory test results on transfer.", "detailed_caption": "Laboratory test results on transfer showed sodium 138 mmol/liter, potassium 3.4 mmol/liter, chloride 93 mmol/liter, carbon dioxide 33 mmol/liter, urea nitrogen 27 mg/dl, creatinine 0.93 mg/dl, glucose 110 mg/dl, calcium 9.6 mg/dl, magnesium 2.1 mg/dl, phosphorus 3.3 mg/dl, prealbumin 22 mg/dl, albumin 3.8 g/dl, globulin 3.6 g/dl, total protein 7.4 g/dl, direct bilirubin 0.2 mg/dl, total bilirubin 0.5 mg/dl, alanine aminotransferase 25 U/liter, aspartate aminotransferase 19 U/liter, alkaline phosphatase 86 U/liter, glycated hemoglobin 6.7%, hemoglobin 14.4 g/dl, hematocrit 42.8%, platelet count 197,000 per μl, white-cell count 7890 per μl.", "modalities": ["lab"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/N-10000157/fig/3.jpg"], "caption": "(A) Endoscopic image of the stomach, prepyloric region. (B) Endoscopic ultrasound of the stomach, wall thickness ≤15 mm, involving deep mucosal, submucosal, and muscularis propria layers.", "detailed_caption": "(A) Endoscopic image of the stomach shows diffuse nodular mucosa in the prepyloric region. (B) Endoscopic ultrasound image shows patchy wall thickening (≤15 mm) involving the deep mucosal, submucosal, and muscularis propria layers.", "modalities": ["endoscopy", "ultrasound"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/N-10000157/fig/4.jpg"], "caption": "(A) Hematoxylin and eosin staining of gastric biopsy specimen. (B) Cytokeratin AE1-AE3 and CAM5.2 staining of peritoneal biopsy specimen. (C) Hematoxylin and eosin staining of gastric resection specimen. (D) Hematoxylin and eosin staining of unspecified tissue.", "detailed_caption": "(A) Hematoxylin and eosin staining of biopsy specimen from the stomach obtained during endoscopic ultrasonography shows fragments of muscularis propria with an associated infiltrative, poorly differentiated adenocarcinoma. (B) Cytokeratin AE1-AE3 and CAM5.2 staining of biopsy specimen from the peritoneum obtained during laparoscopic evaluation shows infiltrative, poorly cohesive tumor cells in a background of fibroadipose tissue with marked fibrosis and inflammation. (C) Hematoxylin and eosin staining of the gastric-resection specimen shows scattered clusters of poorly differentiated adenocarcinoma. (D) Hematoxylin and eosin staining shows extension to the subserosa and serosa.", "modalities": ["pathology"]}], "diagnosis": "Linitis plastica (invasive gastric adenocarcinoma)", "standardized_diagnosis": [{"original_term": "Linitis plastica", "corrected_term": null, "code": "2B72.0", "title": "Linitis plastica of stomach", "chapter": "Neoplasms", "primary": false}, {"original_term": "Invasive gastric adenocarcinoma", "corrected_term": null, "code": "2B72.0", "title": "Adenocarcinoma of stomach", "chapter": "Neoplasms", "primary": true}]}, "year": 2022, "classification": "Neoplastic diseases"}
+{"pmid": "N-10000128", "patient_info": {"basic_info": "A 38-year-old female patient presented with status epilepticus 2 hours before admission, manifesting as generalized tonic-clonic seizures, loss of consciousness, upward eye deviation, and trismus with urinary and fecal incontinence. She had her first seizure at age 17, with poor control despite intermittent medication, experiencing 10 seizures in the past 2 years. She had recurrent stroke-like episodes for 5 years, cognitive impairment for over 10 years, and cerebellar atrophy for over 10 years. On examination, she was in a light coma state (under diazepam infusion), with pupils equal and round at 2.0 mm diameter with preserved light reflexes, negative doll's eye test, symmetric nasolabial folds, and uncooperative for tongue protrusion. Muscle strength examination was uncooperative, with decreased muscle tone and tendon reflexes, negative bilateral pathological signs. Sensory and coordination examinations were uncooperative. Neck was soft with negative Kernig's sign. Family history revealed her mother was short with kyphosis and hearing loss, developing cognitive decline in middle age and dying of stroke at 60. The patient's elder daughter (17 years old) had mild cognitive impairment and mild visual impairment, while her younger daughter (13 years old) had intellectual disability and could not attend school normally.", "supplementary_info": [{"type": "fig", "id": 1, "subfig": null, "path": ["images/N-10000128/fig/1.jpg"], "caption": "(A) Optical coherence tomography of the right eye, performed on March 28, 2024. (B) Optical coherence tomography of the left eye, performed on March 28, 2024.", "detailed_caption": "Optical coherence tomography performed on March 28, 2024. (A) Right eye showing mild atrophy of outer retinal layer. (B) Left eye showing no obvious abnormalities.", "modalities": ["ophthalmic imaging"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/N-10000128/fig/2.jpg"], "caption": "(A-L) Brain MRI performed 1 day after onset on March 18: (A) T1FLAIR sequence, left frontal and parietal lobes. (B) T1FLAIR sequence, left temporal and occipital lobes. (C) Cerebellum, structural MRI. (D) Magnetic resonance angiography (MRA). (E) T2-weighted sequence, left frontoparietal region. (F) T2-weighted sequence, left temporal and occipital lobes. (G) T2FLAIR sequence, left frontal and bilateral parietal lobes. (H) T2FLAIR sequence, left temporal and bilateral occipital lobes. (I) DWI sequence, left parietal and bilateral temporal lobes. (J) ADC map, left frontal and parietal lobes. (K) DWI sequence, left occipital and bilateral temporal lobes. (L) ADC map, left temporal and occipital lobes. (M-P) Brain MRI performed 1 month after onset on April 18: (M) DWI sequence, left parietal lobe. (N) ADC map, left frontal and parietal lobes. (O) DWI sequence, left occipital lobe. (P) ADC map, left occipital and temporal lobes.", "detailed_caption": "Brain MRI findings. (A-L) Performed 1 day after onset on March 18. (A) Left frontal and parietal lobes showing T1FLAIR low signal. (B) Left temporal and occipital lobes showing T1FLAIR low signal. (C) Cerebellar atrophy with widened sulci. (D) MRA showing fenestration deformity of left anterior cerebral artery and slightly thin right vertebral artery. (E) Left frontoparietal T2 patchy high signal. (F) Left temporal and occipital T2 high signal. (G) Left frontal and bilateral parietal T2FLAIR high signal. (H) Left temporal and bilateral occipital T2FLAIR high signal. (I) Left parietal DWI high signal, bilateral temporal lobes without obvious high signal. (J) Left frontal and parietal ADC high signal. (K) Left occipital DWI high signal, bilateral temporal lobes without obvious high signal. (L) Left temporal and occipital ADC high signal. (M-P) Performed 1 month after onset on April 18. (M) Left parietal DWI high signal disappeared compared to previous. (N) Left frontal and parietal ADC high signal disappeared compared to previous. (O) Left occipital DWI high signal disappeared compared to previous. (P) Left occipital and temporal ADC high signal disappeared compared to previous.", "modalities": ["mri", "angiography"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/N-10000128/fig/3.jpg"], "caption": "Brain MR spectroscopy performed on March 28, 2024, left temporal lobe lesion area.", "detailed_caption": "Brain MR spectroscopy performed on March 28, 2024, left temporal lobe lesion area. Shows elevated Cho peak, slightly decreased NAA peak, decreased NAA/Cr ratio, elevated Cho/Cr ratio, elevated Glu peak, slightly elevated MI peak, presence of Lip and Lac peaks with inverted double Lac peak.", "modalities": ["mri"]}, {"type": "fig", "id": 4, "subfig": null, "path": ["images/N-10000128/fig/4.jpg"], "caption": "(A) Genetic analysis. (B) Genetic analysis. (C) Genetic analysis.", "detailed_caption": "Genetic testing results. (A) Patient showing T10191C mutation. (B) Patient's younger daughter without this mutation. (C) Patient's elder daughter with T10191C mutation.", "modalities": ["genetic"]}, {"type": "fig", "id": 5, "subfig": null, "path": ["images/N-10000128/fig/5.jpg"], "caption": "(A, E) Muscle biopsy, H&E staining, 400× magnification. (B, F) Muscle biopsy, COX staining, 400× magnification. (C, G) Muscle biopsy, modified Gomori staining, 400× magnification. (D, H) Muscle biopsy, SDH staining, 400× magnification.", "detailed_caption": "Muscle pathology findings. (A) Mild variation in muscle fiber size, small fibers elongated, no ragged red fibers, HE×400. (B) No enzyme activity deficient fibers, COX staining×400. (C) No ragged red fibers, modified Gomori stain×400. (D) Atypical SSV (strongly SDH reactive blood vessels), SDH staining×400. (E) Elder daughter's muscle fibers with mild size variation, small fibers elongated, no ragged red fibers, HE×400. (F) Elder daughter without enzyme activity deficient fibers, COX staining×400. (G) Elder daughter without ragged red fibers, modified Gomori stain×400. (H) Elder daughter showing atypical SSV, SDH staining×400.", "modalities": ["pathology"]}], "diagnosis": "Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) caused by mitochondrial gene T10191C mutation", "standardized_diagnosis": [{"original_term": "Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes", "corrected_term": null, "code": "8C73.Y", "title": "Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes", "chapter": "Diseases of the nervous system", "primary": true}, {"original_term": "Lactic acidosis", "corrected_term": null, "code": "5C73.Z", "title": "lactic acidosis", "chapter": "Endocrine, nutritional or metabolic diseases", "primary": false}, {"original_term": "Stroke-like episodes", "corrected_term": null, "code": "8C73.Y", "title": "Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes", "chapter": "Diseases of the nervous system", "primary": false}]}, "year": 2024, "classification": "Genetic and congenital disorders"}
+{"pmid": "N-10000114", "patient_info": {"basic_info": "An 82-year-old woman was admitted to the hospital because of difficulty walking, falls, and cognitive decline. The patient had been in her usual state of health, living independently with her husband and participating in a walking club, until 8 months before the current presentation, when generalized weakness developed. She began to walk more slowly and was no longer active with her walking club; she felt limited by pain in her feet. Five months before the current presentation, the patient began to have difficulty with climbing stairs and with rising from a seated position. Four months before the current presentation, she began to have falls at home. Three months before the current presentation, the patient fell and her husband was not able to lift her up from the floor. Emergency medical services were called, and she was admitted to another hospital for evaluation. During that hospitalization, a urinary tract infection and hyponatremia were diagnosed. The urinary tract infection was treated with trimethoprim–sulfamethoxazole. The hyponatremia was attributed to the syndrome of inappropriate antidiuretic hormone and was treated with fluid restriction and salt tablets. Eight weeks before the current presentation, the patient was discharged from the rehabilitation facility, and she and her husband moved to an assisted-living facility. Fatigue developed, along with loss of appetite and a reduced intake of food. The patient began to need one-person assistance to walk. She also noticed that she had been having difficulty with math associated with the family finances, which she had always done with ease. Her family noticed that she had been having trouble carrying on a conversation and that she seemed less attentive than usual. Two weeks before the current presentation, the patient had another fall and was admitted to a second hospital, where she was found to have hyponatremia, hypokalemia, and hypomagnesemia. After discharge from the hospital, the patient had a progressive loss of independence. She noted worsening generalized weakness and low back pain, and she needed two-person assistance to walk. Her family brought her to the emergency department of this hospital for evaluation. In the emergency department, the patient reported urinary incontinence, which she attributed to not having enough time to get to the toilet because of her physical limitations with movement; she had no dysuria or urinary urgency. There was no fecal incontinence. The patient had a history of hypertension, dyslipidemia, and hypothyroidism. Surgical history included hemiarthroplasty of the right shoulder and arthroplasty of both knees. She had chronic pain in the shoulders, knees, wrists, and hands, which had been attributed to osteoarthritis. On examination, the temporal temperature was 36.6°C, the heart rate 88 beats per minute, the blood pressure 108/54 mm Hg, the respiratory rate 17 breaths per minute, and the oxygen saturation 100% while the patient was breathing ambient air. The body-mass index was 25.8. She appeared tired but was oriented to person and place. Pitting edema was present in the legs to the level of the mid-shins. A detailed strength examination was limited because of pain, with minimal movement of the shoulders, wrists, fingers, ankles, and knees. The patient could wiggle her toes but had weak plantar flexion and dorsiflexion of both feet. She could easily wiggle her fingers and lift her arms against gravity at the elbows. Light touch of the dorsum of the right hand caused pain, as did light touch of the right knee and the soles of both feet. Recognition of sensation to light touch and to vibration were normal. Cerebellar testing, gait testing, and reflex testing were limited by severe pain with movement and touch. The patient had symmetric erythema, swelling, and tenderness of the metacarpophalangeal and proximal interphalangeal joints. She had limited range of motion in the wrists and elbows, along with symmetric tenderness in the subtalar joints and swelling and pain with squeezing of the metatarsophalangeal joints.", "supplementary_info": [{"type": "tab", "id": 1, "subfig": null, "path": ["images/N-10000114/tab/1.jpg"], "caption": "Laboratory results on admission. Urinalysis.", "detailed_caption": "Laboratory data on admission showed hemoglobin 9.2 g/dl, hematocrit 28.7%, mean corpuscular volume 73 fl, white-cell count 7470 per μl, platelet count 481,000 per μl, erythrocyte sedimentation rate 28 mm/hr, C-reactive protein 143.8 mg/liter, sodium 124 mmol/liter, potassium 4.3 mmol/liter, chloride 90 mmol/liter, carbon dioxide 23 mmol/liter, urea nitrogen 14 mg/dl, creatinine 0.56 mg/dl, glucose 118 mg/dl, calcium 8.4 mg/dl, magnesium 1.7 mg/dl, total protein 5.1 g/dl, albumin 2.6 g/dl, osmolality 255 mOsm/kg of water. Urinalysis showed 3+ leukocyte esterase, presence of nitrates, and more than 100 white cells per high-power field.", "modalities": ["lab"]}, {"type": "fig", "id": 1, "subfig": null, "path": ["images/N-10000114/fig/2.jpg"], "caption": "CT of the head, performed without intravenous contrast.", "detailed_caption": "CT of the head, performed without the administration of intravenous contrast material, revealed moderate ventriculomegaly that was out of proportion to the enlargement of the cerebral sulci.", "modalities": ["ct"]}, {"type": "tab", "id": 2, "subfig": null, "path": ["images/N-10000114/tab/3.jpg"], "caption": "Laboratory results from hospital day 6.", "detailed_caption": "Additional laboratory data on hospital day 6 showed antinuclear antibody positive at 1:1280 with a speckled pattern, anti-dsDNA antibody positive at 1:20, rheumatoid factor 636 IU/ml, anti–cyclic citrullinated peptide antibody 317 IU/ml, C3 76 mg/dl, C4 <6 mg/dl, cryoglobulins not present, antineutrophil cytoplasmic antibody negative.", "modalities": ["lab"]}, {"type": "fig", "id": 2, "subfig": null, "path": ["images/N-10000114/fig/4.jpg"], "caption": "(A) Sural nerve biopsy, H&E staining. (B) Sural nerve biopsy, H&E staining. (C) Sural nerve biopsy, H&E staining. (D) Sural nerve biopsy, toluidine blue staining. (E) Muscle biopsy, H&E staining. (F) Muscle biopsy, immunohistochemical staining for fast myosin heavy chain.", "detailed_caption": "(A) Hematoxylin and eosin staining of sural nerve biopsy specimen shows a dense inflammatory infiltrate involving small and medium-sized blood vessels. (B) Focal fibrinoid necrosis is present. (C) The nerve fascicles contain numerous myelin ovoids with rare intact myelinated axons. (D) Toluidine blue staining of the sural nerve specimen shows severe loss of myelinated axons. (E) Hematoxylin and eosin staining of muscle biopsy specimen shows moderate neurogenic changes, including scattered angulated atrophic fibers. (F) Immunohistochemical staining of the muscle specimen for fast myosin heavy chain shows extensive fiber-type grouping.", "modalities": ["pathology"]}, {"type": "fig", "id": 3, "subfig": null, "path": ["images/N-10000114/fig/5.jpg"], "caption": "(A) Radiograph of the hands. (B) Radiograph of the wrists and proximal phalanges of the hands. (C) Radiograph of the feet. (D) Radiograph of the first metatarsophalangeal joints.", "detailed_caption": "(A) Radiograph of the hands shows periarticular osteopenia — decreased mineralization that is more pronounced at the carpal, metacarpophalangeal, proximal interphalangeal, and distal interphalangeal joints than at the shafts of the metacarpal and phalangeal bones. (B) Enlarged view of the wrists and proximal phalanges of the hands shows representative erosions of the radiocarpal joints and distal ulnas and the metacarpophalangeal joints. (C) Radiograph of the feet shows periarticular osteopenia — decreased mineralization that is more pronounced at the tarsal and metatarsophalangeal joints than at the metatarsal shafts. (D) Enlarged view of the first metatarsophalangeal joints shows numerous erosions.", "modalities": ["x-ray"]}], "diagnosis": "Rheumatoid arthritis with vasculitis causing a confluent mononeuritis multiplex", "standardized_diagnosis": [{"original_term": "Rheumatoid arthritis", "corrected_term": null, "code": "FA20.Z", "title": "Rheumatoid arthritis", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": true}, {"original_term": "Vasculitis", "corrected_term": null, "code": "4A44.Z", "title": "Vasculitis", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": false}, {"original_term": "Mononeuritis multiplex", "corrected_term": null, "code": "8C12.1", "title": "Mononeuritis multiplex", "chapter": "Diseases of the nervous system", "primary": false}]}, "year": 2024, "classification": "Orthopedic and connective tissue disorders"}
+{"pmid": "15953879", "patient_info": {"basic_info": "A 72-year-old Korean woman presented in February 2003 with recent enlargement of inguinal lymph nodes associated with fatigue and weight loss of 2 kg over 3 months. She had a medical history significant for microscopic hematuria 20 years prior, hyperthyroidism 15 years prior, iron deficiency anemia refractory to iron supplementation discovered in February 2001, and polyclonal gammopathy. She was diagnosed with primary Sjögren's syndrome in October 2001 based on 30 years of ocular and oral sicca symptoms, positive Schirmer test, salivary gland involvement on salivary scintigraphy, FANA positivity (1:160+, speckled pattern), and rheumatoid factor positivity (26.7 IU/mL), though anti-SSA/SSB were negative. Physical examination revealed a cachexic woman with pale conjunctiva and multiple inguinal lymph node enlargement. Laboratory investigations showed hemoglobin 7.9 g/dL, white cell count 6,800/μL, platelet count 399,000/μL, MCV 73.3 fL, ESR 56 mm/hr, C-reactive protein 13.0 mg/dL, total protein 10 g/dL with globulin 7.1 g/dL, and elevated β2-microglobulin at 3,490 ng/dL. Serum electrophoresis demonstrated a polyclonal pattern with increased IgG (4,610 mg/dL) and IgA (681 mg/dL).", "supplementary_info": [{"type": "fig", "id": 1, "subfig": "A", "path": ["images/15953879/fig/1.jpg"], "caption": "Bone marrow biopsy, H&E staining, 400× magnification.", "detailed_caption": "Bone marrow biopsy revealed normocellular marrow with multifocal increase of plasma cells that were normal in morphology and maturation (H&E stain, ×400).", "modalities": ["pathology"]}, {"type": "fig", "id": 1, "subfig": "B", "path": ["images/15953879/fig/2.jpg"], "caption": "Lymph node biopsy, H&E staining, 400× magnification.", "detailed_caption": "Lymph node biopsy revealed extensive infiltration of plasma cells showing profound germinal center reaction. The lymph node plasma cells were normal in morphology and maturation, and immunostaining stained equally for both kappa and lambda light chains (H&E stain, ×400).", "modalities": ["pathology"]}, {"type": "fig", "id": 2, "subfig": "A", "path": ["images/15953879/fig/3.jpg"], "caption": "Immunofluorescence staining of CD27 on CD19+ peripheral blood B cells", "detailed_caption": "Immunofluorescence staining of CD27 on CD19+ peripheral blood B cells revealed marked increase of CD19+/CD27high plasma cells (24.8%) and significant reduction of CD19+/CD27+ memory B cells (16.1%), with naive B cells comprising 59.0%.", "modalities": ["lab", "pathology"]}], "diagnosis": "Reactive plasmacytosis in association with primary Sjögren's syndrome", "standardized_diagnosis": [{"original_term": "Reactive plasmacytosis", "corrected_term": null, "code": "MA16.11", "title": "Plasmacytosis", "chapter": "Symptoms, signs or clinical findings, not elsewhere classified", "primary": false}, {"original_term": "Primary Sjögren's syndrome", "corrected_term": null, "code": "4A43.20", "title": "Primary Sjögren syndrome", "chapter": "Diseases of the musculoskeletal system or connective tissue", "primary": true}]}, "year": 2005, "classification": "Infectious and immunologic disorders"}