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pmc-6637338-1 | The patient, a 91-year-old white woman with a past medical history significant for hypertension, coronary arterial disease, aortic stenosis, arthritis, and atrial fibrillation presented at the emergency room per advice of her cardiologist who found her to be pancytopenic. On physical examination, the patient was noted to be anemic with mild shortness of breath but not in acute distress. She was mildly jaundiced, but there was no cyanosis or edema. Her abdomen was soft and nontender. Bowel sounds were heard. Liver, spleen, and kidneys were not palpable. There was no palpable lymphadenopathy. Heart sounds S1 and S2 were identifiable along with a soft ejection systolic murmur. The chest was clear to auscultation. Her vital signs were stable—blood pressure 125/70 mm Hg, pulse 72 pm, respiration 18 pm, and temperature 97.6°F. The family history was noncontributory.
Laboratory investigations revealed a WBC 1.0 × 109/L, hemoglobin 6.6 g/dL with raised MCV at 123.0 fL, MCH 41.0 pg, and a platelet count of 24 × 109/L (Table ). A manual differential of her peripheral blood smear revealed 38.4% neutrophils and 55.8% lymphocytes, 2.9% monocytes, 2.9% eosinophils, and no blast cells. Her serum iron level was elevated at 171 µg/dL (normal range 20-115), the iron binding capacity was slightly low at 242 µg (normal range 250-450), and the per cent saturation was slightly high at 71% (normal range 20-55). Her ferritin was raised to 300 ng/mL (normal range 15-250). Her reticulocyte count was within normal limits 2.2%. The LDH (247 units/L), B12 (306 pg/mL), and folic acid (15.2 ng/mL) levels were also within normal limits. Her complete metabolic profile was mostly normal except for bilirubin, which was slightly increased at 1.9 mg/dL. The routine urine analysis was negative. The patient received two units of packed RBC with 20 mg of furosemide intravenously before the second unit at the time of admission.
A bone marrow aspirate, clot sections, and a trephine biopsy specimen revealed a diagnosis of hypoplastic AML—blasts 40% in the marrow with cellularity 10% per trephine biopsy specimen (Figure ). Plasma cells were mildly increased and constituted about 10% of the marrow cells.
Flow cytometry studies (Figure ) of the bone marrow aspirate revealed an increased (20%) population of immature cells (blasts), as evidenced by HLA-DR and CD34 expressions. This blast population expressed dim CD45 with minimal side scatter. By forward scatter, these cells were medium to large sized, and they expressed CD34, CD117, CD13, CD14, CD38, HLA-DR, and were negative for CD3, CD20, CD11c, CD15, and CD64. In addition, a population of cells (1% of total marrow cells), medium to large size (by forward scatter) expressing bright CD38, CD56, CD138, consistent with abnormal plasma cells, were also noted. Cytogenetic studies: A total of 20 metaphase spreads were analyzed by G-banding, which revealed a normal female karyotype of 46, XX. No apparent clonal chromosomal aberrations were identified.
Because of her age (91 years) and a diagnosis of hypoplastic AML, the patient was referred to Hospice care. However, the patient's family declined this option and requested treatment that did not involve chemotherapy. It was at this point that the patient was started on low-dose prednisone 20 mg orally daily, pantoprazole 20 mg/d, and G-CSF (filgrastim) 300 µg subcutaneously three times (Monday, Wednesday, and Friday) a week. The patient did not receive concomitant administration of any other cytokines or any chemotherapy. Prednisone was gradually tapered and has been reduced to 5 mg orally daily for the last 5 months.
Within 2 weeks, her circulating neutrophil count began to increase. The hemoglobin concentration and platelet count remained low and required RBC and platelet transfusions from time to time but the patient remained clinically and hematologically stable.
Six months following the initiation of the treatment, her WBC count rose to 3.5 × 109/L, hemoglobin rose to 10.3 g/dL (with an occasional blood transfusion), the MCV remained high at 110.8 fL, and the platelet count attained 53 × 109/L with an occasional platelet transfusion (Table ).
Nine months following the start of the treatment, her WBC count was normal at 4.7 × 109/L, the hemoglobin was 10.0 g/dL, the MCV remained high at 121.0 fL, and the platelet count increased to 78 × 109/L.
At 12 months of treatment, the WBC count was elevated to 15.5 × 109/L (at which time the filgrastim dose was lowered to 300 µg twice a week), hemoglobin level was 9.3 g/dL, and the platelet count was 46 × 109/L (Table ).
Sixteen months following the start of the treatment, her WBC count fell to 3.3 × 109/L (and the filgrastim dose was raised to 300 µg three times a week), the hemoglobin was 8.8 g/dL, the MCV remained unchanged, and the platelet count receded to 28 × 109/L (Table ). The patient remained stable and in relative good health.
A BM aspiration and biopsy conducted about 8 months following the start of G-CSF and low-dose prednisone therapy revealed persistent hypoplastic AML—30% blasts in the marrow and 15% cellularity in the trephine biopsy specimen (Figure ).
A BM aspiration and biopsy performed at 16 months following the start of the protocol once again showed persistent hypoplastic AML with a 20% blast cell population in the marrow (Figures and ) and 30% cellularity per trephine biopsy specimen (Figures and ). Flow cytometry findings (Figure ) at this time were equivalent to the flow cytometric studies performed at diagnosis. Cytogenetic studies: A total of 20 metaphase spreads were analyzed by G-banding, which revealed a normal female karyotype of 46, XX. No apparent clonal chromosomal aberrations were identified. Molecular studies (IDH1, IDH2, FLT3, NPM1, and TP53) were negative.
The patient thus showed a good response to G-CSF and low-dose prednisone therapy particularly with respect to the peripheral neutrophil count, a reduced blast cell population in the marrow, and an improved bone marrow cellularity. Although the patient continues to show the presence of a greater than normal number of blast cells in the marrow and remains mildly anemic as well as thrombocytopenic, she continues to remain clinically stable without requiring blood or platelet transfusion or antibiotic therapy. |
pmc-6637340-1 | A 14-day-old male newborn was admitted to the Emergency Room of the Hospital das Clinicas da Universidade de Sao Paulo in regular clinical condition, coming from another hospital unit where the delivery occurred. The postnatal PB showed significant leukocytosis (57 900/mm3) with blasts. Due to his clinical condition, he was transferred to the neonatal intensive care unit. He evolved on the 2nd day of birth with hypothermia (34.5°C), jaundice, and persistence of leukocytosis with blasts. In the hypothesis of sepsis, antibiotic therapy (ampicillin and gentamicin) was started for four days. The mother was 22 years old, with two previous pregnancies and no history of abortions and consanguinity.
In the physical examination, the pediatrician observed typical DS facies, a simian fold on hands, the presence of diffuse nodular erythema and mild hypotonicity, with no cardiovascular and/or respiratory disorders. However, on the third day of life, the patient developed respiratory distress, O2 desaturation, and acute renal failure, requiring orotracheal intubation and vasoactive drug use.
The echocardiogram detected cardiac tamponade with restriction on biventricular filling; pericardiocentesis was performed by Marfan puncture, with withdrawal of 21 mL of pericardial fluid (PF), whose laboratorial analysis showed proteins 2.9 g/dL, lactic dehydrogenase 413 U/L, and glucose 101 mg/dL; cellularity was 1200/mm3, with 82% leukocytes (55% basophils and 22% eosinophils; Figure A). Pericardial fluid immunophenotyping by flow cytometry did not reveal blasts in the sample. The patient's karyotype confirmed Down syndrome (47,XY,+21; Figure B). The pediatrician suggested the diagnosis of DS associated with TAM and initiated low-dose chemotherapy (cytarabine) for five complete cycles. The patient presented with tumor lysis syndrome, ascites, and pleural effusion during hospitalization. Because of the worsening of patient evolution, the pediatrician made the diagnostic hypothesis of fungal sepsis, although fungi did not grow in culture; the pediatrician opted for the introduction of micafungin (10 days). The patient evolved with gradual improvement and was discharged from the hospital on the 32nd day. The results of the main laboratory and image tests are described in Table . |
pmc-6637341-1 | A 72-year-old woman was referred to our outpatient clinic because of a recurrent incisional hernia. Patient history includes a well-controlled hypertension (treated for 7 years). Surgical history includes an umbilical hernia, operated 5 years ago, as well as a recurrence of the umbilical hernia, treated as an incisional hernia, 2 years ago. Both operations were performed at another surgical department; as a result, information concerning the techniques used for the repairs was unavailable. The patient was scheduled for a recurrent hernia repair. Prior to surgery, she was otherwise asymptomatic, with no signs of bowel obstruction. Physical examination revealed a periumbilical defect of about 7 cm in the abdominal wall. Intraoperatively, an enteroenteric fistula in close relation to the abdominal wall was discovered, as well as a palpable hard mass which was located next to the fistula. Adhesions were also present. During adhesiolysis, the small intestine was incised and a mesh was discovered inside the lumen (Figure ). Partial enterectomy (about 20 cm long) was performed, and the continuity was restored with an end-to-end anastomosis by hand. The recurrent ventral hernia was restored with simple suturing and closing of the defect, since the risk of foreign material infection was augmented, because of the small bowel manipulations. Postoperatively, oral fluid intake was encouraged on the first day and patient was discharged from our clinic on the sixth postoperative day. |
pmc-6637343-1 | Our patient was a 2-year-old female infant. She presented with three painless vesicles on the lower lip that had emerged 3 weeks earlier. The vesicles had been left untreated due to their fluctuation in size. However, a local dentist who saw the patient for a routine checkup recommended a thorough examination of the vesicles, and thus referred her to our hospital. Her medical and family histories were unremarkable. At the initial visit, three well-circumscribed round masses, each measuring approximately 5 mm in diameter, were found on the lower lip. The lesions were bluish fluctuant masses covered with normal mucosa. No pain or congestion was noted. The facial appearance was symmetric without any skin rashes. No swelling or tenderness was present in the submandibular or cervical lymph nodes. The patient had no fever and her food intake was good. The differential diagnosis of mass lesions in lower lip is salivary gland tumors, fibroma, and hemangioma. Salivary gland tumors of the minor glands can occur on the lip but are more commonly seen in the upper lip rather than in the lower lip. Fibroma is commonly pink and nonfluctunt. Hemangioma can undergo transient reduction in size under pressure. Based on these findings, the lesions were diagnosed as multiple mucoceles of the lower lip. The mucoceles were individually excised, along with the surrounding minor salivary glands, under local anesthesia. We removed three spherical masses, each measuring 5 × 5 × 5 mm in size (Figure ). Histopathological analysis revealed that the cysts were present within connective tissues and lacked lining epithelium. In the minor salivary gland tissues, lymphocytic infiltration was noted around the ducts. These histopathological findings led to a diagnosis of mucoceles (Figure ).
Her postoperative course was uneventful without any infection or wound dehiscence. To date, 3 years after the operation, the patient has not experienced any recurrence. Informed consent was obtained from the patient's parents, and the procedures were performed in accordance with the Helsinki Declaration. |
pmc-6637344-1 | A 48-year-old female patient presents with a chief complaint of cervical discomfort for the last 8 years, associated with progressive dysphagia when eating solids. She also experienced nighttime coughing, regurgitation, and intermittent hoarseness. Her past medical history was unremarkable, except for a left thyroid nodule resection for benign disease 6 years ago. The physical examination was normal. A contrast esophagogram was obtained and evidenced a 4-cm left-sided diverticulum protruding from the anterior-lateral wall of the cervical esophagus (Figures and ). Upper endoscopy confirmed the previous finding and did not show other alterations.
After consultation with the patient, a diverticulectomy and esophagomyotomy were scheduled. The diverticulum was approached through an oblique incision along the anterior border of the left sternocleidomastoid muscle. The diverticulum was dissected, with careful identification and preservation of the left recurrent laryngeal nerve, which was very close to its base (Figure ). A 4-cm esophagomyotomy was then performed (Figure ). With a bougie in the esophagus, a linear stapler (Proximate TL-30, Ethicon Inc) was used to transect the diverticulum base (Figure ). The muscle gap was closed with interrupted transverse sutures covering the stapling line and avoiding esophageal stenosis (Figure ). A nasogastric Dobhoff catheter was positioned, and the wound was then closed in layers with the placement of a Penrose drain. The postoperative course was uneventful. The patient was started on an enteral diet on postoperative day 1, and hospital discharge occurred on postoperative day 2. On postoperative day 7, the patient swallowed a methylene blue solution that did not reveal any leak. The drain and the nasogastric catheter were then removed, and an oral diet was initiated. The patient remains asymptomatic 3 months following surgery. |
pmc-6637351-1 | A 7-year-old girl presented with 1-week history of high-grade fever and gum bleeding. There was no significant past medical history. She was born to consanguineous parents at full term by spontaneous vaginal delivery and was vaccinated as per immunization schedule. There was no family history of bleeding disorder, bone marrow failure, or hematological malignancy. On clinical examination, she had gum bleeding. There was no palpable lymphadenopathy or visceromegaly. Complete blood counts showed pancytopenia with hemoglobin of 6.2 g/dL, absolute neutrophil count (ANC) 0.3 × 109/L, and platelet count of 8 × 109/L. Bone marrow examination showed hypocellular marrow with 10 percent cellularity, absence of abnormal infiltrate or reticulin fibrosis, consistent with severe aplastic anemia. Cytogenetics was normal 46 XX, screening for Fanconi anemia, paroxysmal nocturnal hemoglobinuria, and secondary causes of aplastic anemia including viral serology, autoimmune profile, and thyroid profile were all negative. She underwent allogeneic stem cell transplant with her fully HLA matched brother. There was no ABO mismatch, and both donor and recipient were seropositive for cytomegalovirus (CMV) and Epstein-Barr Virus (EBV). Conditioning regimen used was cyclophosphamide 200 mg/kg and Thymoglobulin 10 mg/kg, and cyclosporine was given for graft versus host disease (GVHD) prophylaxis. She achieved neutrophil engraftment on day + 14 and had uncomplicated early post-transplant course except for febrile neutropenia. Her late post-transplant course was also uneventful, and she had secure trilineage engraftment with complete donor chimerism and adequate B-cell and T-cell immune reconstitution by 1 year post-transplant. Tapering of immunosuppression was started at 1 year and was stopped at 14 months post-transplant.
Four weeks after stopping immunosuppression, she was seen in outpatient clinic with high-grade fever and bilateral submandibular and cervical lymphadenopathy. Complete blood counts showed pancytopenia with WBC 0.95 × 109/L, hemoglobin 9.7 g/dL, and platelets 43 × 109/L. Contrast enhanced CT scan showed bilateral cervical, submandibular, mediastinal, and abdominal lymphadenopathy.
Bone marrow examination revealed markedly hypocellular marrow consistent with secondary graft rejection and PCR for short tandem repeats showed 50% donor Chimerism. Her PCR for cytomegalovirus (CMV), adenovirus, and human herpes virus-6 (HHV-6) were all negative. PCR for Epstein-Barr virus (EBV) was positive (86 000 copies) demonstrating EBV reactivation. Excisional biopsy of cervical lymph node showed Hodgkin disease (Mixed cellularity type). Immunohistochemistry showed weak positive CD45, strong positivity for CD15, CD30, and PAX 5 in Reed-Sternberg cells, and CD20 and EBV positivity in background cellular infiltrate. CD10 and BCL-2 were negative. These findings were consistent with EBV-associated post-transplant lymphoproliferative disorder (HD stage III-B) and secondary graft rejection. Treatment was started with Rituximab and COPDAC chemotherapy for Hodgkin lymphoma. She had an initial response which was documented by regression of lymph nodes but her pancytopenia persisted and repeat STRs after 4 weeks showed only 10 percent donor chimerism. She developed febrile neutropenia and multi-organ dysfunction syndrome requiring broad-spectrum parenteral antibiotics, amphotericin B, G-CSF, granulocyte transfusions, intravenous immunoglobulin, and antiviral treatment. Her repeat PCR for EBV was negative 4 weeks later, and chemotherapy was continued. Despite aggressive management, her multi-organ dysfunction worsened, and she could not be salvaged and expired. |
pmc-6637352-1 | A 34-year-old woman with lower back pain was diagnosed with disseminated carcinomatosis of bone marrow due to gastric cancer. Plain X-rays showed slight brightness and osteosclerotic changes of bones such as disappearance of vertical line of bone trabeculae, which were useful clues for diagnosis.
A 34-year-old woman without a history of cancer visited our hospital because of lower back pain. Physical examination showed no abnormalities including breast masses or lymphadenopathy. The laboratory examination showed white blood cell count of 2.9 × 109 cells/L without erythroleukoblastosis, hemoglobin of 9.4 g/dL, platelet count of 136 × 109/L, alkaline phosphatase concentration of 3 196 IU/L (isozyme type 2 plus 3, 91%), and lactate dehydrogenase of 169 U/L. Diffuse hyperdense areas were found in the lumbar spine (Figure A,B) and bilateral alae of the ilium (Figure ). Especially, enlarged view of lateral lumbar spines revealed disappearance of vertical lines of bone trabeculae and unclear endplates of vertebral body as findings of osteosclerosis (Figure C). Bone scintigraphy showed beautiful bone sign and absent kidney sign, suggesting diffuse bone metastatic lesions (Figure ). We suspected disseminated carcinomatosis of the bone marrow (DCBM) caused by gastric or breast cancer; however, upper gastrointestinal endoscopy revealed Borrmann 4 type gastric cancer. We finally diagnosed DCBM due to poorly differentiated gastric adenocarcinoma by histopathological findings of gastric tumor.
Clinicians should be alert to the presence of slight brightness and osteosclerotic changes of bones on plain X-rays to avoid missing the diagnosis of DCBM, especially in patients without a history of gastric, colon, breast, lung, or prostate cancers., |
pmc-6637353-1 | We present a 5-year-old girl with a recent onset of erythematous and scaling lesions of the face, dorsal fingers, elbows and knees, cuticular hypertrophy, and periungual capillary dilatation (Figures , ). The patient also described a symmetrical pain and slowly increasing muscle weakness of her lower and upper extremities. After several days, muscle weakness worsened so that she was no longer able to walk upright, but instead started to crawl. Before onset of the disease, the patient showed a normal development. The mother reported that during pregnancy, she developed premature contractions in the 33rd week, and during that period, she was treated for gonorrhea with fluoroquinolones. There was no family history for any other diseases.
A 4-mm punch biopsy specimen of the skin of the left elbow was taken. The histopathological findings were typical for psoriasis (Figure ).
Based on the physical complaints, neurological status, muscle ultrasound of the thighs which showed an echo-rich activity of the muscles compatible with an inflammatory infiltration, laboratory testing (elevated creatine kinase levels [7.01 μkat/L, normal range <2/5 µkat/l]), lactate dehydrogenase levels (8.08 μkat/L, normal range <5.2 µkat/L), and a positive ANA titer of 1:2560, the diagnosis of dermatomyositis was made according to the European League Against Rheumatism (EULAR)/American College of Rheumatology (ACR) classification criteria for adult and juvenile idiopathic inflammatory myopathies. |
pmc-6637355-1 | A 55-year-old male patient presented to our hospital with fatigue and dizziness for 3 days. His past medical history was significant for multiple myeloma diagnosed 6 years earlier. He has undergone autologous stem cell transplantation 4 years ago followed by lenalidomide maintenance and remained in stable complete remission. During the follow-up, the patient felt well until 3 months ago when he was incidentally discovered to have a new onset of hypercalcemia, hyperglobulinemia, and 80% plasma cells in bone marrow aspiration. Thus, he was diagnosed with relapsed multiple myeloma and he received three cycles of daratumumab-based therapy. He had no history of herbal medicine use or laxative abuse. His current medications were folic acid, vitamin B complex, and low-dose acyclovir prophylaxis. On physical examination, he was alert and oriented with markedly pale conjunctiva and a mild tenderness over thoracolumbar spines. The rest of the physical and neurological examination was unremarkable. Laboratory results are summarized in Table .
Peripheral blood smear showed normochromic normocytic red blood cells, decreased platelets, and marked rouleaux formation but no hemolytic blood picture. The cause of pancytopenia in this patient is likely ascribed to bone marrow involvement with plasma cells. The serum protein electrophoresis revealed an obvious monoclonal spike in the gamma band, and a monoclonal IgG kappa protein was detected on serum immunofixation. Multiple osteolytic lesions, especially in the thoracolumbar spines, were also significantly more evident on the plain radiograph when compared to the previous result.
Nephrology team was promptly consulted for thorough evaluation of severe hyperphosphatemia and contemplating the potential role of hemodialysis. Considering that the clinical manifestations of hyperphosphatemia (eg, seizures and tetany) were absent, despite extremely elevated serum phosphate, our patient also had underlying multiple myeloma with hyperglobulinemia that was a risk factor of analytical interference; hence, additional investigations to confirm pseudohyperphosphatemia were performed. Serum phosphate levels had been measured repeatedly by the conventional phosphomolybdate ultraviolet (UV) assays (ammonium molybdate method) using the cobas 8000 analyzer (Roche Diagnostics Corporation), and the concentration results ranged between 16 and 24 mg/dL. In order to decrease the serum paraprotein concentrations, the original serum sample was diluted and measured again. Moreover, we took another blood sample from our patient and the sample was treated with 20% sulfosalicylic acid to remove the paraproteins prior to phosphate analysis with automated analyzer. After the pre-analytical sample dilution or precipitation of serum paraproteins with 20% sulfosalicylic acid, the serum phosphate concentrations returned to the reference ranges (2.5-4.5 mg/dL), indicating that the falsely elevated serum phosphate levels were ascribed to the biochemical interference, which confirmed the diagnosis of pseudohyperphosphatemia. |
pmc-6637357-1 | A 22-year-old Hispanic female patient with a known diagnosis of systemic lupus erythematosus (SLE) presented to the emergency room complaining of headache, chest pain, muscle pain, and joint pain. SLE was diagnosed roughly 2 years prior, crescentic lupus nephritis type IV biopsy confirmed 5 weeks prior to current presentation. On admission, patient’s renal function was at her baseline and did not fluctuate during the hospitalization course: GFR (glomerular filtration rate) 21, BUN (blood urea nitrogen) 93, and creatinine 3.4. Hemoglobin 9.3 and hematocrit 27.6 were also at her baseline and remained stable following week. Home medications for SLE were azathioprine 25 mg PO once daily, hydroxychloroquine 200 mg PO bid, mycophenolate mofetil 1500 mg PO bid, and prednisone 5 mg PO bid. Five days prior to presentation, she began to experience subjective fever, malaise, and arthralgia, myalgia followed by diffuse throbbing headache without visual deficits at that point. There were no seizures or other neurological deficits. On arrival to the Emergency Department, her chief complaint was severe headache and 1 day of right eye blurry vision. Blood pressure was severely elevated at 197/121. Antihypertensive medications Lasix 80 PO BID, Carvedilol 12.5 PO BID, and Isosorbide Mononitrate 30 PO every morning initiated immediately in the Emergency Department. At that time, CT head without contrast showed no acute findings. Lupus flare was suspected, high dose of Prednisone 50 mg PO daily (in contrast to home dose of Prednisone 5 mg PO daily) was started, and home doses of mycophenolate mofetil and hydroxychloroquine were continued since the admission. Clonidine 0.1 mg q6hr was used for treatment only for the first 2 days. Blood pressure remained high 181/99 mm Hg during the day 1 and 188/116 mm Hg during the day 2. The patient was subsequently worked up for chest pain with elevated Troponin I. VQ scan suggested low probability for pulmonary embolism. Soon after, the patient was thought to have myocardial injury and/or demand ischemia in light of SLE-associated vasculitis, pericarditis, myocarditis, etc On day 2, neurology was consulted for headache and rapid onset right eye blindness. On examination, closing of the right eye demonstrated 20/25 vision in left eye. However, closing of the left eye resulted in severely decreased visual acuity of the right eye to 20/200. On further examination, despite patient was oriented to time, place, person and situtaion, she appeared drowsy and incoherent on open-ended question, and there was no active hallucination. Cranial nerve examination beside the vision remained intact; pupils were equal and briskly reactive. Motor examination was nonfocal showing strength of 5 out of 5 at that time. There was no bowel and bladder issue. On day 3, three MRI FLAIR (fluid-attenuated inversion recovery) sequence demonstrated hyperintensity of this patient’s midbrain and thalami sparing the red nuclei (Figure ). There was no occipital white matter involvement. With adding nifedipine on day 3 of hospitalization, blood pressure decreased to 160/99 of mm Hg. On day 4, patient began to experience lower extremity weakness with motor strength of 4/5 and ataxic gait without any changes in the reflex (she was never hyperreflexic). She has repeatedly refused spinal fluid analysis. Her blood pressure was 155/100 mm Hg by day 5. All her neurological symptoms were self-limited and began to improve by day 6. Aggressive blood pressure treatment has brought the BP back down to range SBP (systolic blood pressure) 130-135 mm Hg and DBP (diastolic blood pressure) 70-80 mm Hg by day 7. Her eventual discharge blood pressure was 123/78 mm Hg. By day 10 of admission (7 days after original study), MRI FLAIR showed near complete resolution of the midbrain hyperintensity when compared to prior imaging (Figure ). By then, her neurological symptoms had resolved. SLE serum laboratory results demonstrated C3 and C4 levels were low, 34 mg/dL and <5 mg/dL, respectively. ANA was positive; anti-dsDNA was positive; and dsDNA QN was elevated at 48 IU/mL. Chromatin was positive, and chromatin QN was elevated at >8 AI. B2Glycoprotein 1 IgM and IgG Ab were normal range, 0 and 2, respectively. Anti-U1 RNP, anti-Smith, anti-Jo-1, centromere Ab, ribosomal P, anti-Scl-70, anti-SS-A, and anti-SS-B were all negative. Resolution of the patient’s symptoms coincided with MRI improvement and blood pressure control before plasma exchange therapy was concluded. On day 9, TPE (Therapeutic Plasma Exchange), which has never used before, was added by treating rheumatologist to manage SLE acute exacerbation. One of the published studies has concluded that despite long-term treatment with immunosuppressive medications, some patients still progress to complications and TPE was an effective management with successful outcomes. |
pmc-6637358-1 | A previously healthy 79-year-old woman presented with 14 days of nausea. She developed sudden left hemiparesis. Acute diffusion-weighted imaging (DWI) showed patchy diffusion restriction in all cerebrovascular territories. Biochemistry revealed elevated basic phosphate 185 U/L, CRP 30 mg/L. Cerebrospinal fluid was normal. Transthoracic and transesophageal echocardiography was normal. Computed tomography (CT) of the thorax, abdomen, and pelvis showed a thrombus in the jugular vein, metastasis to mediastinal lymph nodes with compression of the superior vena cava, and metastasis to the liver and adrenal glands but no primary tumor.
Biopsy from the liver showed poorly differentiated adenocarcinoma suspected of upper gastrointestinal tract origin. The patient quickly deteriorated and died 20 days after initial presentation. |
pmc-6637358-2 | A hypertensive, osteoporotic 85-year-old woman was found with right hemiparesis and aphasia. On MRI, she had small infarcts in all cerebrovascular territories. Biochemistry showed elevated basic phosphatase 475 U/L, with CRP 49 mL/L.
CT of the thorax, abdomen, and pelvis showed a pancreatic tumor with metastasis to the liver and adrenal glands. Surgery was not offered based on imaging findings, and chemotherapy was declined by the patient. She died 23 days after initial presentation. |
pmc-6637358-3 | A 63-year-old man with a newly diagnosed lung cancer (adenocarcinoma) with bone and liver metastasis was scheduled for chemotherapy. He presented after the abrupt onset of left arm weakness, prior to the initiation of treatment. Acute MRI demonstrated a causative ischemic lesion and infarcts in all cerebrovascular territories. Transthoracic echocardiography demonstrated mild mitral insufficiency. He was treated with palliative chemotherapy, but died 74 days after the stroke. |
pmc-6637358-4 | A 50-year-old male with a history of depression was a 38-pack-year smoker. He presented with sudden right facial paresis and dysarthria. MRI revealed small infarcts in all vascular territories. Cerebrospinal fluid was normal. Transthoracic and transesophageal echocardiography was normal.
CT of the thorax, abdomen, and pelvis showed a mass in the lung, and PET-CT showed nodular metastasis in both lungs, metastasis to retroperitoneal lymph nodes and lymphangitis carcinomatosis. Biopsy showed adenocarcinoma.
He was started on chemotherapy but died 44 days after the initial stroke. |
pmc-6637358-5 | A 77-year-old hypertensive male presented with sudden left-sided hemiparesis and diffuse DWI changes in multiple vascular territories on acute MRI. MRA revealed a proximal vessel occlusion, and he underwent successful thrombectomy. Elevated basic phosphate 340 U/L and alanine aminotransferase 75 U/L, and CRP 41 mg/L were noted. Transthoracic echocardiography revealed a hypertensive heart, but was otherwise normal. CT of the thorax, abdomen, and pelvis showed a pancreatic tumor with liver metastasis, mesenteric metastasis, and a thrombus in the right pulmonary artery. Biopsy showed adenocarcinoma of the pancreas.
The patient was deemed unfit for chemotherapy and died 49 days after presentation. |
pmc-6637358-6 | A 76-year-old female with known metastatic lung carcinoma and a history of pulmonary embolism on apixaban presented with aphasia and right-sided weakness. Imaging with MRI revealed embolic strokes in all vascular territories. Transthoracic echocardiography was normal, with no septal defects. D-dimer was elevated with the evidence of new thrombus on ultrasonography of the lower extremities. Family discussion leads to a conversion to hospice, and she died 28 days later. |
pmc-6637366-1 | A 54-year-old female patient was admitted from a skilled nursing facility. The patient had a prolonged stay at an outside hospital for pneumonia and respiratory failure requiring mechanical ventilation. She was unable to wean from the ventilator and discharged with a tracheostomy and chronic urinary catheter. At the nursing facility, she became febrile and increasingly somnolent. Vital signs were significant for pulse of 149 beats per minute (bpm), temperature of 105.2°F, saturation of 97%, blood pressure (BP) of 123/85 mm Hg; pertinent laboratories are in Table . Physical examination was significant for somnolence, bibasilar crackles and the aforementioned tracheostomy and urinary catheter. Chest X-ray (CXR) showed bibasilar infiltrates consistent with pneumonia. Vancomycin and piperacillin-tazobactam were initiated by the emergency department physician (ED-MD).
Procalcitonin in this patient was normal at 0.31 ng/mL (reference range at our institution <0.50 ng/dL). Regardless, she was continued on broad-spectrum antibiotics and ETT aspirate grew pseudomonas. The patient improved clinically with antibiotics and was discharged to a skilled nursing facility. |
pmc-6637366-2 | A 54-year-old female patient with a past medical history of chronic obstructive pulmonary disease (COPD) on 4 L/min home oxygen presented after recent discharge from an outside hospital. The patient had been treated for COPD exacerbation with steroids, levofloxacin, and inhaled bronchodilators and was discharged 2 days prior to presentation. She complained of worsening shortness of breath, productive cough, and chills. Vital signs were significant for pulse of 96 BPM, temperature of 98.5°F, saturation of 92%, BP of 140/89 mm Hg; pertinent laboratories are in Table . Physical examination was significant for bibasilar crackles, mild peripheral edema, and morbid obesity. CXR showed bibasilar infiltrates which were read as atelectasis, new infiltrates, or pulmonary edema. Vancomycin and piperacillin-tazobactam were initiated by the ED-MD for healthcare-associated pneumonia.
Procalcitonin was <0.05 ng/mL. She was treated for COPD exacerbation with steroids and inhaled bronchodilators and treated for volume overload with furosemide. She was significantly better after diuresis and discharged home after 2 days with no antibiotics. |
pmc-6637366-3 | A 37-year-old female patient with past medical history significant for polysubstance abuse, COPD, and recurrent admissions for pneumonia presented with shortness of breath and cough. She had regular inhalational methamphetamine use, but states that this had recently been cut with crack cocaine. She thought this may be responsible for her symptoms. Vital signs were significant for pulse of 135 BPM, temperature of 98.3°F, saturation of 56%, BP of 129/83 mm Hg; pertinent laboratories are in Table . Physical examination was significant for diffuse expiratory wheezing and scattered inspiratory crackles. CXR showed mild interstitial and peribronchial thickening centrally with mild bibasilar consolidation, which was improved from CXR 1 month prior. Vancomycin and piperacillin-tazobactam were initiated by the ED-MD.
Procalcitonin was <0.05 ng/mL. Antibiotics were discontinued, she was treated with steroids and supplemental oxygen therapy for chemical pneumonitis. She substantially improved and left against medical advice on day 3 of her hospitalization. |
pmc-6637366-4 | A 63-year-old male patient presented with pneumonia requiring intubation and mechanical ventilation. During a prolonged hospitalization, he failed extubation multiple times and underwent a brief cardiopulmonary arrest. He received antibiotics for 26/27 hospital days, and his peak procalcitonin was 93.40 ng/dL (Table ). His procalcitonin was being trended in the interest of antimicrobial stewardship. The patient completed a course of levofloxacin for enterobacter pneumonia on day 27. His procalcitonin on that day was 1.89 ng/dL. It continued to trend down after cessation of antibiotics, indicating control of the infection, until a nadir of 0.49 ng/dL. The patient was managed supportively and eventually discharged to an inpatient rehab facility. |
pmc-6637367-1 | A woman in her thirties presented with scaly papules on the right neck and trunk for several years. The rash was initially localized to her abdomen but spread to the chest and neck. It was pruritic and refractory to over the counter moisturizers. Family history of similar lesions was negative. Physical examination revealed erythematous scaly papules on the right side of the neck, inframammary fold, abdomen, and lower back in a Blaschkoid distribution (Figure ). The fingernails and toenails were without nicking or splitting. Past medical history was positive for multiple neuropsychiatric disorders: ADHD, anxiety, bipolar disorder, and depression.
Topical steroids were prescribed with slight improvement in pruritus but the papules remained. A biopsy was obtained for histological analysis and showed foci of suprabasilar acantholysis and dyskeratosis with corps ronds and grains (Figures and ). After biopsy, a topical retinoid (Retin-A ointment 0.06%, Valeant Pharmaceuticals, North America LLC, Bridgewater) was prescribed and the papules improved. |
pmc-6637379-1 | A 26-year-old man presented with a rapidly growing mass in the left abdominal wall (Figure ). The mass was well demarcated and mobile, and had slight changes in skin color. It was first noticeably present one year earlier, when it was 2 cm in diameter. It had grown rapidly over the next eight months. Abdominal computed tomography demonstrated a solid mass measuring 13 × 27 cm. It looked like oval bump with uniformity signal, laying in the subcutaneous soft tissues, and the CT value was 40 HU (Figure ). Fine-needle aspiration revealed spindle cell tumor. At operation, the mass was completely encapsulated in subcutaneous tissue. It was easily separated from the adjacent tissue and was completely removed. Gross pathology examination revealed a white-brown-yellow mass (Figure ). Microscopic examination revealed dense and sparse areas of spindle cells, collagen bundles in the stroma, and thin-walled branching vessels (Figure ).
In immunohistochemical staining, the tumor was positive for CD34, B-cell lymphoma 2 (BCL-2), and CD99 antigens (Figure ). Stains for smooth muscle actin and S-100 were negative. The Ki-67 proliferation index was 3%. Based on the histological and immunohistochemical findings, a diagnosis of SFT was made. The patient had no postoperative complications, and there was no evidence of recurrence at 12-month follow-up. |
pmc-6637392-1 | A 51-year-old South Asian man on maintenance HD presented with an acutely painful left thigh and breathlessness. He had a 20-year history of poorly controlled type two diabetes with associated nephropathy and retinopathy. His temperature was 38.6 °C, pulse 90 bpm, and blood pressure was 150/78 mmHg. He had bibasal chest crepitations and bilateral pedal edema. His left thigh was swollen and tender. His C-reactive protein (CRP) was 147 mg/L (< 5), and white cell count (WCC) was 8.7×109/L (4 – 11×109/L). He received 5 days of meropenem for sepsis, presumed to be due to cellulitis or an infective collection, and underwent ultrafiltration with HD. A Doppler ultrasound scan (DUSS) excluded a deep vein thrombosis (DVT) and a collection, but demonstrated edema of the superficial tissues. Blood cultures taken prior to antibiotics were negative.
The patient’s continued discomfort prompted magnetic resonance imaging (MRI). This revealed an abnormal signal from the anterior and medial left thigh muscle compartments on T1-weighted imaging (). This, in conjunction with fat suppression through short tau inversion recovery (STIR), was reflective of an inflammatory or infective process. Orthopedic and rheumatology specialist opinions were sought; prompting an autoimmune screen (anti-neutrophil cytoplasmic antibody (ANCA), anti-nuclear antibodies (ANA), anti cyclic citrullinated peptide (anti-CCP), extractable nuclear antibodies (ENA); all of which returned negative) and the suggestion of a muscle biopsy. However, a subsequent review by the diabetes multidisciplinary team concluded that the findings were consistent with DMN, and the biopsy was avoided. He was managed with gentle physiotherapy and oxycontin 5 mg twice a day, with another 5 mg as needed for break-through pain. His symptoms resolved over another 4 weeks.
Of note, this patient had presented elsewhere with similar symptoms several times in the past, prompting 7 DUSS’ and a previous MRI. He received antibiotics and was considered for muscle biopsy on each occasion, avoided only due to symptom resolution. DMN had never previously been considered. |
pmc-6637392-2 | A 49-year-old Caucasian woman on maintenance HD presented with left leg pain and an inability to weight bear. She had a 30-year history of poorly controlled type 1 diabetes with associated neuropathy and nephropathy. On examination, her temperature was 37.7 °C, pulse 82 bpm, and blood pressure was 155/80 mmHg. Her left lower leg was swollen, warm, and tender. Her CRP was 68 mg/L (< 5), WCC 7.8×109/L (4 – 11), and creatine kinase (CK) was 212 iU/L (25 – 200). A DVT, ruptured Baker’s cyst, diabetic amyotrophy, and statin-induced myositis were all considered as differentials. Her atorvastatin was stopped, gabapentin was commenced for neuropathic pain, and DUSS and electromyography were requested.
Her CK reduced to 40 iU/L following statin cessation. A DUSS excluded a DVT and Baker’s cyst, but showed edema of the superficial tissues, prompting intravenous flucloxacillin for potential cellulitis. Electromyography findings excluded a myositis.
Specialist orthopedic and rheumatological opinions were sought, and a muscle biopsy and autoimmune screen (tests as in Case 1) were again advised. At this stage, DMN was suspected by the nephrology team and confirmed by MRI (). Muscle biopsy was again avoided, and the patient was treated with morphine sulphate 20 mg in the morning and 30 mg in the evening, with 2.5 mg oramorph for break through pain, and gentle physiotherapy. Her symptoms took 2 months to resolve. |
pmc-6637393-1 | A 56-year-old Japanese woman was admitted to our hospital for evaluation of renal dysfunction with a serum Cre of 5.3 mg/dL and hypercalcemia (a-Ca: 13.5 mg/dL) (, patient 7). Urinary protein excretion was 18.3 g daily, and urinary Bence Jones Protein (BJP)-κ was positive, while %UAE was only 0.9%. Bone marrow aspiration showed 58.0% κ-positive plasma cells, and MM was diagnosed (DS stage III A). A renal biopsy specimen was obtained, and LM revealed global sclerosis in 1 out of 19 glomeruli. While the glomeruli showed no significant abnormalities, tubular casts (eosinophilic on H & E staining, negative for PAS stain, polychromatic on MT staining, and positive for κ light chain) surrounded by inflammatory cells were detected (). Congo red stain was negative throughout the biopsy specimen, so pure MCN was diagnosed. She received three courses of vincristine-doxorubicin (adriamycin)-dexamethasone (VAD) therapy followed by high-dose melphalan (HDM) + autologous peripheral blood stem cell transplantation (SCT). Hematologic remission was not complete, so chemotherapy was continued, but the patient died of subdural hemorrhage 11 years and 2 months after the diagnosis. |
pmc-6637393-2 | A 68-year-old Japanese man was admitted for evaluation of intestinal ileus (, patient 13). Serum Cre was 1.1 mg/dL, and he had hypercalcemia (a-Ca: 11.8 mg/dL). Urinary protein excretion was 6.7 g daily, with both serum IgA-λ M protein and urinary BJP-λ being positive. %UAE was 59.3%. Bone marrow aspiration showed 31.6% λ-positive plasma cells, and MM was diagnosed (DS stage III-A). Examination of a renal biopsy specimen revealed no global sclerosis in 3 glomeruli on LM. The glomeruli contained Congo red-positive amorphous lesions, and subepithelial spicule formation was seen by PAM staining. In addition, EM revealed randomly-arranged fibrils of 7 – 12 nm in diameter. Tubular casts surrounded by inflammatory cells were seen, which were negative for PAS, eosinophilic on H & E staining, polychromatic on MT staining, and positive for λ light chain (). Coexistence of MCN and light chain amyloidosis was diagnosed. Treatment with VAD + prednisolone was started, followed by 2 courses of thalidomide. However, remission was not achieved, and the patient died of pneumonia after 6 months. |
pmc-6637431-1 | A 35-year-old man was admitted to a tertiary care center with right upper abdominal pain and palpitations. He had been diagnosed with hypertension and diabetes mellitus 8 years earlier. Computed tomography revealed a right retroperitoneal tumor measuring 7 cm in diameter. Urinary noradrenaline and normetanephrine levels were high (1.38 [reference range, 0.048-0.168] and 2.13 [reference range, 0.09-0.33] mg/d, respectively).
123I-metaiodobenzylguanidine (MIBG) scintigraphy showed no accumulation in the tumor, although magnetic resonance imaging showed elevated T2-signal intensity. FDG-PET showed high accumulation in the right retroperitoneal tumor with multiple accumulations in the retroperitoneal, peritracheal, upper mediastinal, and perispinal spaces bilaterally (Figure A), whereas 111In-octreotide only accumulated within the tumor. The patient had neither familial history of hereditary PPGL nor any significant genetic mutations in the genes encoding succinate dehydrogenase complex subunits B and D. He was diagnosed with right retroperitoneal paraganglioma and underwent surgery for removal of the retroperitoneal tumor. Histopathological examination showed a paraganglioma and beige-colored peritumoral fat tissues (Figure ). On immunohistochemical staining, the beige-colored peritoneal fat tissues were positive for uncoupling protein 1, peroxisome proliferator-activated receptor-γ coactivator 1-α, CBP/p300-interacting transactivator with Glu/Asp-rich carboxy-terminal domain 1, and myogenic factor 5 (Myf5) (Figure ).
Catecholamine levels immediately returned to normal within a month, and the FDG accumulations disappeared 1 month after surgery (Figure B). Postoperatively, he stopped experiencing palpitations and right abdominal pain, and the administration of doxazosin, which was started after the PPGL diagnosis, was discontinued. To date, the patient has remained symptom-free and recurrence-free for 3 years. |
pmc-6637432-1 | A 32-year-old pregnant woman (G2, P0010), with a pituitary prolactin-producing macroadenoma (larger than 1 cm) was managed at Maharaj Nakorn Chiang Mai Hospital, Chiang Mai, Thailand. She had a history of miscarriage. The macroadenoma was diagnosed 1 year prior to the current pregnancy, based on a history of amenorrhea for 2 years, prolactin levels of 244.3 ng/mL, and the findings of the first CT brain scan, which showed the enlarged pituitary gland (1.6 × 1.2 × 1.3 cm), as well as the thin and sloping sella floor. Nevertheless, no other symptoms and abnormal physical or laboratory findings were observed.
After bromocriptine treatment, she got pregnant when her prolactin level was 19.74 ng/mL and other laboratory tests were normal. However, her baseline brain MRI when pregnancy was diagnosed (16 weeks of gestation) showed deviation of the pituitary stalk to the left side, enlarged anterior lobe of the pituitary gland (0.9 × 0.8 × 1.2 cm), and subacute hemorrhage (pituitary apoplexy) with minimal indentation of the optic chiasm (Figure ). Bromocriptine therapy was continued throughout pregnancy. Clinical assessment was done at least once a month, and visual fields were tested every trimester and when indicated by clinical changes.
She was admitted to the hospital at 32 weeks of gestation since she developed a visual disturbance. The brain MRI showed an increase in the size of the tumor to 2.0 × 1.6 × 1.5 cm with pressure effect, resulting in an upward displacement of the prechiasmatic segment of the bilateral optic nerves and the optic chiasm (Figure ). Pituitary apoplexy was suspected. Hypothyroxinemia (FT4:0.89 ng/dL; TSH: 14 mU/L; anti-TPO: negative) was also detected and treated with levothyroxine (50 mcg/d). However, the visual field testing showed normal results and no other neurological or surgical sign was observed. Therefore, the patient was conservatively managed with adjusted dosage of bromocriptine and levothyroxine. She was discharged when clinical improvement was observed. Nevertheless, she was admitted again at 37 weeks of gestation due to blurred vision with severe headache. The visual field testing showed bitemporal hemianopia. Urgent delivery was considered to avoid the progressive change of the tumor, and the route of delivery was discussed. The advantages and disadvantages of each route of delivery were explained to the patient and her family. Cesarean section was chosen by the patient to avoid intrapartum stress and possible further impairment of visual ability. An uneventful cesarean section was performed, giving birth to a female newborn, weighing 2920 grams with APGAR scores of 8 and 9 at 1 and 5 minutes, respectively.
Breastfeeding was avoided and bromocriptine treatment was continued. Two weeks after birth, the abnormal visual field remained the same, and the brain MRI findings showed no significant change. The tumor size was relatively the same (1.5 × 1.6 × 2.0 cm) with suprasellar extension (Figure ). The patient was scheduled for re-evaluation at 1 month after birth to give a chance for tumor regression, and transsphenoidal surgery would be considered in case of no medical improvement. At 1 month postpartum, the prolactin level reduced from 1459 ng/mL at 2 days postpartum to 427 ng/mL. During that period, the visual field also gradually improved significantly.
The improvement of the visual field and the decreasing prolactin levels indicated that bromocriptine therapy gave a satisfactory response after 1 month postpartum. Accordingly, there was no indication for an operation. She was continuously treated with bromocriptine and levothyroxine with no side effect. |
pmc-6637433-1 | A 23-year-old male presented to the emergency department following a work-related globe penetrating injury from a pneumatic nail gun to his left eye (OS) 4 mm inferionasally from the limbus (Figure 1a ). At the time of the injury, the patient was operating a pneumatic nail gun in an overhead position at a housing contraction site in Ontario Canada. The patient was wearing standard eye protective glasses (polycarbonate lenses, CSA approved) at the time of the nail ricochet. He was promptly referred to Ophthalmology for emergency nail removal and primary closure and subsequently underwent retinal specialist review 3 days later.
Best corrected visual acuity (BCVA) was 20/20 OD and 20/70 OS. Pupils were 5 mm OD and 6 mm OS. The left pupil was nonreactive to direct light; with no relative afferent papillary defect. Extraocular movements and intraocular pressures were normal. Slit-lamp examination demonstrated a traumatic cataract, and 1+ flare in the anterior chamber. Fundus examination demonstrated a posterior vitreous hemorrhage, 4 large semi-circular retinal holes at the 4:00, 5:00, 8:00 and 9:00 meridians between the ora serrata and the equator, each with a sub-retinal fluid (SFR) cuff as well as a large retinal hole (4 disc diameters) inferior to the optic nerve along the 6:00 meridian, two horseshoe retinal tears along the 12:00 meridian and extensive commotio in the inferior and inferotemporal retina (Figure 1b,c ). Optical coherence tomography (OCT) demonstrated SRF in the macular region (Figure 1b ) and fluorescein angiography demonstrated a BRAO and BRVO along the inferotemporal vascular arcade (Figure 1d,e ) with no branch arterial filling and delayed branch venous filling by retrograde flow.
11 days after the injury the patient underwent 23G vitrectomy combined with cataract extraction with IOL, scleral buckle, silicone oil tamponade and laser endophotocoagulation without complication. Five days post-surgery BCVA was 20/100 OS with no SRF on examination and OCT. Silicone oil was removed 3 months later and replaced with SF6 gas without complication.
Over the next 4 months, the patient complained of increasing blurred vision OS which decreased from best corrected visual acuity of 20/100 OS to 20/400 OS. Increased capsular haze was noted and treated with a YAG laser capsulotomy. Despite a good surgical outcome, BCVA 1 year after injury was 20/400 OS with scaring and atrophy evident in the inferior retina (Figure 2a,b ). Extensive attenuation of the inferior vascular arcade was noted compared to the time of injury (Figure 2b,c ). The extent of tissue ischemia from the vascular injury is likely responsible for the patient’s poor visual outcome. |
pmc-6637434-1 | A 57-year-old man, who has been blind in the left eye secondary to blunt trauma for the past ten years, presented with a three-day history of left eye pain associated with purulent discharge after a foreign body entry. The patient had no known medical illness and he was a heroin chaser. On examination, he had no light perception in the left eye with positive relative afferent pupillary light defect. There was a melting central corneal ulcer, associated with proptosis, periorbital swelling, diffuse conjunctival chemosis, and injection (Figure 1 , Figure 2 ). His intraocular pressure, measured gently with a tonopen, was elevated to 24 mmHg. The iris and fundus details were not visible due to the opaque cornea. B-scan ultrasonography showed a hyperechoic mass with surrounding exudative retinal detachment, resembling a choroidal tumour (Figure 3 ). Systemic examination showed multiple non-tender cervical lymphadenopathies with rubbery consistency, measuring 0.5 cm by 0.5 cm. Otherwise, his cardiovascular, respiratory, and abdominal examinations were normal with no evidence of malignancy or systemic infection. The patient was initially diagnosed with left bacterial keratitis secondary to a foreign body entry with possibly an underlying choroidal tumour. Our differential diagnosis was left bacterial keratitis resulting from a ruptured bullous keratopathy secondary to chronically raised IOP due to the tumour. However, the MRI imaging showed left choroidal detachment with lens displacement, surrounding inflammatory changes and no evidence of tumour. There was no increase in vascularity within the mass as well (Figure 4 ). Blood investigations showed a markedly elevated erythrocyte sedimentation rate (ESR) of 105 mm/hour (reference range: 1–10 mm/hour), raised C-reactive protein of 69.6 mg/L (reference range: <5 mg/dL) with positive HIV and Hepatitis C status. His corneal scraping grew Pseudomonas Aeruginosa.
Due to the patient’s immunocompromised status, markedly elevated ESR, lymphadenopathy, and inflammatory changes of the mass, a possible diagnosis of intraocular tuberculosis (TB) was made. However, TB work-up, which included chest X-ray, Mantoux test and sputum to look for acid-fast bacilli were normal. The patient was started on Ceftazidime 5% and fortified Gentamicin 0.9% eye drops which was sensitive for the Pseudomonas Aeruginosa species and two IOP lowering agents. Despite the initial targeted treatment, the patient’s condition worsened. His cornea perforated within two days of presentation and the patient was in intractable pain, not responding to analgesics. After an elaborated discussion and counselling, we proceeded with evisceration of the affected eye. The corneal tissue and vitreous humour was sent for TB polymerase chain reaction (PCR). The PCR result came back positive for M. Fortuitum. The patient was not started on any systemic antibiotics as there was no evidence of systemic dissemination of the infection. |
pmc-6637435-1 | A 49-year-old female presented to the outpatient clinic of the ophthalmology department of Sohag University, Egypt with gradual defective vision in the left eye, mild ocular pain and redness which started 2 months ago. The patient had an uneventful phacoemulsification in the same eye 3 months ago. She was known to be diabetic and hypertensive on regular medical therapy.
Initially, the patient was diagnosed by her physician as having postoperative uveitis with secondary glaucoma and was managed by topical steroids and anti-glaucoma medications without any improvement.
We re-evaluated her with full ophthalmological examination, the best corrected visual acuity (BCVA) was 0.5 (in decimal notion) in the right eye and 0.2 in the left eye. Extraocular movements were full and free in both eyes. There was a mild periorbital edema and redness around the left eye (Figure 1 ). Pupils of both eyes were equal in size and reactive to light without relative afferent pupillary defect. With Hertel’s exophthalmometry measurement, proptosis wasn’t detected in the right eye (17 mm) while there was mild proptosis in the left eye (23 mm).
Slit lamp examination showed a cortical cataract (LOCS: C2) in the right eye which explains the decreased visual acuity. While the left eye showed a significant conjunctival injection with episcleral vessel dilatation in the form of a corkscrew (Figure 1A ). The implanted lens in the left eye was in place with a clear anterior chamber. Intraocular pressure was 16 mmHg in the right eye and 27 mmHg in the left eye by Goldman applanation tonometry. No bruit was heard mostly because it was a low flow CCF. Extraocular muscles were also spared mostly for the same reason.
Fundus examination showed a picture of central retinal vein occlusion with dilatation of the retinal veins, scattered retinal hemorrhages, and an edematous optic disc with blurring of its margin in the left eye and with normal fundus in the right eye (Figure 1B ). Optical coherence tomography (OCT) showed a macular edema in the affected eye with a central macular thickness (CMT) of 356 µm (Figure 1C ).
Based on clinical signs of the dilated episcleral vessel, proptosis, periorbital swelling in the left eye, and being refractory to steroid therapy by the primary physician, a carotid-cavernous fistula was suspected and further investigations were needed to confirm the diagnosis.
Computed tomography angiography (CT-A) was done (Figure 2 ) with positive findings. Images showed minute small vessels (fistulas) around the early opacified left cavernous sinus with a dilated superior ophthalmic vein.
On confirming the diagnosis of dural CCF, the patient was referred to the neurosurgery department where endovascular treatment by transarterial and transvenous embolization was done.
After treatment, an improvement of the ocular symptoms occurred within one week with relief of conjunctival injection and lid swelling. Dorzolamide/Timolol combination eyedrop was prescribed twice daily until the IOP dropped to 16 mmHg. In addition, the patient received 3 intravitreal injections of Bevacizumab (one injection monthly) for management of the macular edema. The macular edema improved to a CMT of 192 µm one month after cessation of injections and BCVA of 0.7. |
pmc-6637436-1 | A 46-year-old Indian female presented with watering of the right eye since 5 months. History revealed a premature graying of the hair and ‘blue’ color of the eyes since childhood. She also reported her son having similar color of the eyes. However, he was not available for examination. The rest of the family history was non-contributory. She denied any history of hearing loss. The best corrected visual acuity (BCVA) was 20/20 in both eyes. Gross examination revealed telecanthus, flare of the medial eyebrows, and hypoplastic nasal alae (Figure 1A ). Symmetrical pigmented papillomatous lesions on face, neck, and shoulders and pigmented nevi of the skin temporal to the lateral canthus of the left eye were noted. Anterior segment examination revealed a sectoral heterochromia iridum in the right eye with a hypopigmented ‘brilliant blue’ iris extending for 4 hours, superotemporally (Figure 1B ). Iris stromal and pupillary ruff atrophy and poor pupillary dilation in the affected sector were noted. The left eye had a ‘brilliant blue’ iris with relatively poor pupillary dilation (Figure 1C ). The right fundus had a variegated appearance without choroidal hypopigmentation (Figure 1D ). The left fundus had choroidal hypopigmentation beyond the superotemporal arcade up to the periphery (Figure 1E ). There was no evidence of vitiligo, scleral pigmentation, or any sign of chronic uveitis in both eyes. Based on the clinical findings, she was diagnosed of Waardenburg syndrome. The choroidal thickness was measured using swept-source optical coherence tomography (SS-OCT, Topcon DRI OCT -1 Atlantis) and compared between the two eyes and between the pigmented and the vitiliginous areas in the left eye. The subfoveal choroidal thickness was 455 µ (Figure 1F ) and 569 µ in the right and left eye, respectively (Figure 1G ). In the left eye, a comparison of two equidistant points from the foveola along a radial scan passing through the superotemporal vitiliginous area revealed a thinner choroid (457 µ) compared to the corresponding point in the pigmented inferonasal quadrdant (591 µ). |
pmc-6637453-1 | A 48-year-old man of Caucasian origin and ex-smoker came to our ophthalmology department with visual and campimetric worsening in both eyes (OU) since the last two months. He had a history of Behcet’s disease with severe ocular involvement (retinochoroidal) and bipolar aphtosis, previously treated with immunosuppressants and biologic therapy: adalimumab (ADA), infliximab, and azatriopine (AZA). At that time he was stable (no signs of activity) and following treatment with ADA 40 mg/month.
His best corrected visual acuity (BCVA) was 20/32 (Snellen chart) in his right eye (OD) and 20/63 in his left one (OS). Anterior segment was unremarkable for both eyes (OU). Fundus evaluation showed pigment clumps along the retinal veins with variable chorioretinal atrophy extending from the disc up to the equator in both eyes (clinically more evident in OS). Fundus autofluorescence (FAF) imaging revealed hypo-autofluorescent areas corresponding to the atrophic patches over the posterior pole (Figure 1 and Figure 2 ). SS-OCT showed a preserved foveal profile and great macular atrophy in OU, but serious involvement of the retinal outer layers in the left eye (Figure 3 and Figure 4 ). In Angio-OCT, severe involvement of the ellipsoid, choriocapillar, and avascular layers could be appreciated in OS.
Electroretinography (ERG) showed diffuse response peaks in OU, with marked peripheral involvement, in addition to an increase in latency and a decreased amplitude in scotopic and photopic stimulation resulting from a generalized and advanced bilateral photoreceptor dysfunction accompanied by macular anomalies. In visual field (VF) 24.2, there was a higher altitude defect in OR and a temporary defect in OS. A clinical diagnosis of pseudo-paravenous atrophy secondary to Behcet’s disease OU was done. |
pmc-6637454-1 | A 47-year-old female presented to the emergency department after developing loss of consciousness with amnesia following several days of right loin pain and fevers. She awoke with left sided facial pain and a dull headache. She could not recall the prior events of the past day but was aware of blood stains on her bathroom floor. She did not report any eye pain or visual loss.
She had a previous ischaemic stroke and was being managed for hypertension and type 1 diabetes with secondary nephropathy requiring line dialysis. She has bilateral proliferative diabetic retinopathy and is registered as blind. Her left eye had undergone panretinal photocoagulation, delamination, and vitrectomy with internal air tamponade. Her right eye had undergone delamination and segmentation with silicone oil tamponade. All procedures occurred within the previous two years.
She was taking insulin and dual antiplatelet therapy. She lived alone and was independent with her activities of daily living.
On examination, there was bilateral periorbital bruising but no ophthalmoplegia. Blood pressure was 159/102 mmHg. Ophthalmology examination showed bilateral conjunctival haemorrhages in fundoscopy with no ophthalmoplegia. Gross examination of colour and visual fields was normal.
A CT brain without contrast was performed revealing a right-sided hyperdense orbital mass of 2.2 x 1.9 cm (Figure 1 ). A fracture of the medial wall of the left orbit with opacification of the adjacent ethmoid air cells, subcutaneous emphysema and an air-fluid level in the left maxillary sinus were also present. These findings were not present on a previous CT brain two years ago. Her blood tests showed a raised CRP and a mid-stream urine culture showed a pyuria with no growth. Given the uncertain source, a CT abdomen/pelvis was performed which revealed a small pleural effusion and anterior abdominal wall fat stranding secondary to trauma but no focal signs of infection.
The patient was reviewed in the clinic where direct fundoscopy by the ophthalmologist visualised a layer of silicone oil and this corresponded with the imaging findings.
The hyperdense mass corresponded to the silicone oil used as a tamponade agent making this an incidental finding and no further treatment was required.
Her raised CRP and back pain were suggestive of pyelonephritis and she completed a course of co-amoxiclav. She made a full recovery and was discharged home. |
pmc-6637455-1 | A 44-year-old female came to us with the complaint of gradual visual loss and metamorphopsia in the right eye since 6 months. At presentation, she had a BCVA of 20/40 N6 in the right and 20/30 N6 in the left eye, respectively. Anterior segment examination was normal. On fundus examination, the right eye showed multiple yellowish flecks over the posterior pole and a pale yellow confluent lesion with irregular borders nasal to the fovea with a speck of hemorrhage over it, while the left eye showed multiple yellow flecks over the posterior pole (Figure 1 ). Blue autofluorescence image of both eyes showed multiple hyperautofluorescent lesions corresponding to flecks and the right eye showed a hypoautofluorescent lesion corresponding to the CNVM (Figure 2 ). Fundus fluorescein angiography (FFA) of the right eye (Figure 3a ) showed an area of increasing hyperfluorescence in late phase suggestive of classic CNVM with small areas of hyperfluorescent staining corresponding to flecks; the left eye (Figure 3b ) showed small areas of hyperfluorescence staining corresponding to flecks. Spectral domain optical coherence tomography (SD OCT) of the right eye pre treatment (Figure 4a ) showed a juxta foveal CNVM with surrounding subretinal fluid. A full field electroretinogram was done which was found to be normal. In view of these findings, a diagnosis of PDSFF with classic CNVM was made. The patient was advised anti-VEGF injection. Subsequently, the patient went ahead with injections of Ranibizumab in her right eye. The patient came for a follow-up visit after one month. At this visit, her BCVA improved to 20/30 N6 with a significant decrease in her metamorphopsia. A repeat SD OCT was done (Figure 4b ) which showed minimal subretinal fluid with regressing CNVM and adjacent scarring. The patient was advised further anti-VEGF injections and the patient went ahead with injection of Ranibizumab in her right eye. Repeat OCT was done on follow-up visit after a month which showed a complete regression of the subretinal fluid and her vision was maintained (Figure 4c ). |
pmc-6637457-1 | A 40-year-old Indian female presented to us for a routine check-up. The best corrected visual acuity was 6/6 and N6 in both eyes (+0.50/–2.00 x 90º in both eyes). The anterior segment was unremarkable in both eyes. Intraocular pressure was 12 mmHg in both eyes. The left fundus was normal. The right fundus showed a small pigmented flat lesion very near and superotemporal to the foveola. It had a crescent-like depigmented margin towards the foveola (Figure 1a ). Fundus fluorescein angiogram (FFA) showed blocked fluorescence at the pigmented lesion and hyperfluorescence at the area of depigmentation (Figure 1b ).
Optical coherence tomography (OCT) revealed a minimally elevated highly reflective lesion at the retinal surface causing a shadow effect, suggestive of CSHRPE (Figure 2a ). The inner retinal hyperreflectivity was also present in the OCT scans through the depigmented area, suggesting it to be a part of the CSHRPE (Figure 2b ). |
pmc-6637463-1 | A 56 year-old male patient was admitted to our hospital emergency for muscle weakness of all limbs and areflexia (Fig. ). His past medical history was marked by intravenous drug addiction (started at the age of 28 and currently treated by buprenorphine) and chronic respiratory failure after chronic obstructive pulmonary disease (tobacco consumption estimated at 36 pack-years). A serum test performed 1 year ago showed positive anti-HCV antibodies on ELISA (Enzyme Linked ImmunoSorbent Assay) confirmed by LIA (Line ImmunoAssay) with HCV RNA viral load at 87 IU/mL. At the same time, liver function tests indicated elevated levels of alanine aminotransferase (ALT) to 256 IU/L (10–50 IU/L) and aspartate aminotransferase (AST) to 123 IU/L (10–50 IU/L). Chronic HCV infection was proven by persistence of viral load with a 3 log increase (25 200 U/mL) on a blood test withdrawn 4 months ago.
On admission, neurological physiological examination revealed consciousness, quadriplegia of all the limbs with emphasis in arms and right side, sensorial disorders in legs, decreased muscle tension and tendon areflexia in all the limbs, without aphasia, facial nerve palsy or diplopia. Four days after emergency admission, the patient was transferred to our ICU for acute respiratory failure. Physical examination showed dyspnea, tachypnea and sharp pulling necessitating rapid sequence intubation and mechanical invasive ventilation associated with loss of consciousness (Glasgow Coma Score of 10). There was no jaundice or abdominal pain. Blood gas demonstrated severe hypoxemia (pO2 43.8 mmHg) and hypercapnia associated with respiratory acidosis (pCO2 99.1 mmHg, pH 7.06, HCO3− 28.2 mmol/L). Blood tests showed lactates 3.0 mmol/L, white blood cells 31 × 109/L, Hemoglobin 12.6 g/dL, C-reactive protein 14.9 mg/L. The liver assessment was normal. Cardiac ultrasound exam ruled out any cardiac origin of acute respiratory failure. Chest X ray did not show any sign of pneumonia but Haemophilus influenzae was identified in pulmonary samples. Cerebrospinal fluid (CSF) examination showed an absence of leukocyte, 5.5 mmol/L glucose level, and 33 mg/dL protein level, which didn’t suggest albuminocytologic dissociation. Cerebral and medullary magnetic resonance imaging indicated no abnormalities.
Based on initial neurological examination performed in the Department of emergency and respiratory involvement in the ICU, the physicians suspected that the patient presented with GBS. On day 2 after admission in ICU, treatment with intravenous immunoglobulins at a dose of 0.4 g/kg per day for 5 days was initiated. Afterwards, five plasma exchange sessions were implemented over 2 weeks.
On day 4 after admission in the ICU, serological study for anti-HCV antibodies was positive and HCV RNA blood viral load was raised to 1 710 000 IU/mL with HCV assignment into genotype 4. Liver function tests indicated new increased levels of ALT to 103 IU/L (10–50 IU/L) and AST to 86 IU/L (10–50 IU/L). No serological evidence was found for Campylobacter jejuni infection, human immunodeficiency virus, hepatitis B virus and syphilis. Hepatitis A virus and cytomegalovirus serology indicated positive IgG. Serum electrophoresis showed marked polyclonal hypergammaglobulinemia with elevated gammaglobulin level to 20.9 g/L (8.0–13.5 g/L) including 17.5 g/L IgG (6.7–12.4 g/L) and 2.0 g/L IgM (0.6–1.6 g/L). The screening for cryoglobulin by serum cryoprecipitation was positive and immunoelectrophoresis indicated the presence of polyclonal IgG combined with polyclonal IgM. These assays were confirmed twice ten days apart, attesting type-3 MC. In addition, one other immunological test reported decreased serum complement level to 39 U/mL (42–95 U/mL) with reduction in C4 complement fraction to 0.14 g/L (0.18–0.42 g/L).
Electromyography (EMG) carried out at day 5 after admission in ICU showed prolonged distal motor latency, major decrease of motor and sensory nerve action potentials amplitude, absence of voluntary activity and several spontaneous electromyographic activity in all the territories studied, demonstrating evidence of severe acute motor sensory axonal neuropathy (AMSAN) with demyelinating lesions compatible with a peculiar type of GBS.
FibroTest and ActiTest performed on day 14 after admission in ICU showed minimal fibrosis stage (F1) and minimal activity grade (A0-A1), respectively. After plasma exchange sessions, the patient was treated for 2 months with direct-acting antiviral agent (DAA) (glecaprevir/pibrentasvir).
During the first month, the patient showed very slow motor recovery and difficulties with weaning from mechanical ventilation requiring performing tracheostomy. Control EMG performed on day 27 indicated marked improvements in distal motor latencies and motor and sensory nerve action potentials amplitude, major decrease of spontaneous electromyographic activities and recovery of voluntary activity in all the territories studies, suggestive of GBS being recovered.
Afterwards, the patient improved with progressive recovery of muscle strength and normal respiratory function. After one month of DAA therapy, HCV ARN was undetectable and liver enzymes were normal. There was no relapse. The patient was transferred 3 months after his first admission to a rehabilitation centre. |
pmc-6637486-1 | A 77-year-old man visited our hospital due to short-stepped gait and falls, which started two years before. He had a past history of herniated lumber disc, cataract, and benign prostatic hyperplasia. His family history was unremarkable. Neurological examination revealed bradykinesia, mildly reduced arm swing on the right when walking, and retropulsion. He did not present eye movement abnormalities, resting or postural tremors, apparent rigidity, or signs of autonomic impairment. Brain MRI revealed mild frontal lobe atrophy and mild right-dominant subdural hygroma (Fig. a). Levodopa/carbidopa hydrate was started but discontinued shortly due to side effects.
Nine months later, he was referred to us again due to forgetfulness and progressive gait disturbance. Neurological examination demonstrated scores of 26 and 16 in the Mini-Mental State Examination and Hasegawa Dementia Scale-Revised respectively, normal ocular and tongue movements and limb muscular strength, a positive snout reflex, a normal jaw jerk, increased tendon reflexes in the extremities, normal plantar response, short-stepped gait (especially on turning), retropulsion, and subsequent freezing of gait. Dysphagia, tremors, and rigidity were absent; muscular atrophy, fasciculation, and Hoffmann sign were not documented. A combination of amantadine, pramipexole, and levodopa/carbidopa hydrate, which was resumed, was partially effective for gait disturbance, but he still had falls and reported difficulty in writing. His body weight decreased from 64 kg to 42 kg in approximately one year. A follow-up MRI showed increased subdural hygroma and atrophy in the midbrain tegmentum (Fig. b).
Thirteen months after the second visit, when he was 79 years old, left- and proximal-dominant arm weakness was noted. A brain computed tomography revealed subdural hematoma predominantly on the left (Additional file ). He was admitted to our hospital and underwent a burr-hole evacuation for the hematoma. Bilateral arm weakness and dysarthria progressed after the surgery. Neurological re-examination showed hypophonic dysarthria (which was not spastic), prominent muscle weakness in the shoulder girdle and upper limbs (manual muscle testing: deltoid 1/0, biceps 2/2, triceps 2/2, wrist flexor 5/5, wrist extensor 4−/2, and finger extensor 4/4−) but not the lower limbs (5/5), mild rigidity in the limbs (without spasticity), an increased jaw reflex, Hoffmann sign on the right, and equivocal plantar response bilaterally. Tendon reflexes were decreased in the left upper limb, mildly increased in the left lower limb, and otherwise normal. He had no restricted eye movement, dysphagia, tongue atrophy, apparent fasciculation, nuchal rigidity, or sensory disturbances. An electrophysiological study demonstrated active and chronic denervation with profound fasciculation potentials in the muscles of the brainstem, cervical, thoracic, and lumbar regions, fulfilling the definition of lower motor neuron dysfunction according to the updated Awaji criteria []. An ultrasonographic study revealed atrophy in the left cervical nerve roots and the left ulnar nerve and fasciculation in the upper and lower limbs. On respiratory function test (which was a poor study), %VC was 13.2 and FEV1% was 152.3. An arterial blood gas demonstrated pH 7.458, PaCO2 46.7 mmHg, PaO2 82.9 mmHg, HCO3 32.3 mEq/L, and SaO2 96.3%. Cardiac 123I-meta-iodobenzylguanidine scintigraphy showed decreased uptake in the delayed phase, suggesting mild sympathetic denervation. Brain N-isopropyl-p-[123I]iodoamphetamine scintigraphy showed hypoperfusion in the bilateral frontal, parietal, and occipital lobes but not the basal ganglia, thalamus, and cerebellum. He was diagnosed with clinically probable ALS according to the revised El Escorial and updated Awaji criteria, and riluzole was introduced. The score of ALS Functional Rating Scale-Revised was 27. CO2 retention worsened quickly, and dysphagia became apparent, requiring nasogastric tube nutrition. Due to the worsening of CO2 narcosis with aspiration pneumonia, he died at age 80 years old, five months after the development of muscle weakness.
We performed a genetic analysis that included whole-exome sequencing, and the results demonstrated that there was no pathological variation in genes currently known to be associated with PSP or ALS, including MAPT and GRN. No hexanucleotide repeat expansion was detected in C9orf72. The number of CAG repeats in the ATXN2 gene was 25/25 (normal).
The brain weight was 1,240 g. Macroscopic examination revealed selective atrophy of the anterior cervical nerve roots as well as mild atrophy of the precentral gyrus (Fig. a). In sections, depigmentation of the substantia nigra and atrophy of the tegmentum of the midbrain, internal globus pallidus and subthalamic nucleus were observed (Fig. b-d).
Microscopically, there was moderate to severe neuronal loss in the spinal anterior horn at all levels of the spinal cord (Fig. a) that relatively spares the Onufrowicz nuclei and Clarke’s column. Bunina bodies were abundant in anterior horn cells (Fig. b). Macrophages had aggregated in the corticospinal tracts, while myelin pallor was not evident. Mild to moderate neuronal loss and gliosis were observed in the hypoglossal nuclei. In the amygdala and area CA1 of the hippocampus, moderate to severe neuronal loss and gliosis were noted. Betz cells were mildly reduced, and some neuronophagia was observed in the precentral gyrus (Fig. c). On immunohistochemistry, we found that phosphorylated TDP-43-immunopositive neuronal cytoplasmic inclusions (NCIs) and glial cytoplasmic inclusions (GCIs) were predominantly located in the spinal anterior horn cells, brainstem motor nuclei (including the hypoglossal, facial, and trigeminal nuclei), the precentral gyrus, and the limbic systems (including the amygdala, hippocampus, subiculum, and entorhinal cortex) (Fig. d).
Moreover, the substantia nigra showed marked neuronal loss with astrogliosis, melanophagia, and globose-shaped neurofibrillary tangles (NFTs) (Fig. e). NFTs had accumulated in the oculomotor nuclei, while neuronal loss was not obvious. Mild neuronal loss and grumose degeneration were observed in the dentate nuclei of the cerebellum. Neuronal loss and gliosis with accumulation of NFTs were observed in the subthalamic nucleus and globus pallidus. In addition, adequate amounts of NFTs and coiled bodies, immunopositive for phosphorylated tau and 4-repeat tau, were observed in PSP-vulnerable areas, including the inferior olivary nucleus, substantia nigra, subthalamic nucleus, and globus pallidus (Fig. f, g). These structures showed less immunoreactivity for 3-repeat tau. Tufted astrocytes were abundant in the substantia nigra, red nucleus, midbrain tectum, subthalamic nucleus, putamen, caudate nuclei, and precentral gyrus (Fig. h). NFT, coiled bodies, and tufted astrocytes were also observed following Gallyas-Braak staining.
The phosphorylated TDP-43-positive structures and 4-repeat tau-positive structures did not colocalize, as investigated by double immunohistochemistry in the substantia nigra or precentral gyrus. Together, these findings demonstrate the neuropathological coexistence of ALS and PSP. Only a small number of NFTs that were immunopositive for both RD4 and RD3 were detected in restricted regions, such as the transentorhinal cortex. This pathological feature was consistent with Braak NFT stage Ι [] and Braak AT8 stage Ι []. No deposition of amyloid, argyrophilic grain, or α-synuclein was detected.
Immunoblotting showed hyperphosphorylated full-length 4-repeat tau bands (64 and 68 kDa) and C-terminal fragments (33 kDa) in the frontal cortex (Fig. ). This banding pattern was consistent with that previously reported in PSP [, ].
The methods used in the above analyses are provided in Additional file . |
pmc-6637491-1 | This is a case report of a 60-year-old male patient, with knee replacement two weeks ago, presented with pain in the upper abdomen and large hematoma around his operated knee. He reported impaired vision in the last two weeks and appeared confused. Clinical examination revealed only slight pain of the upper abdomen. Laboratory results showed severe thrombocytosis (1385 G/l), leukocytosis (49.7 G/l), anemia (98 g/l) and hypoosmolar hyponatremia (105 mmol/l). No clinical or laboratory signs of infection were found. CT scan of thorax and abdomen was inconspicuous. Head MRI showed only a mild microangiopathy with no evidence of hemorrhage or ischemia nor of sinus venous thrombosis. However, a jugular vein thrombosis was detected.
Because of excessively high platelet and leukocyte counts and thrombosis, a myeloproliferative neoplasm (MPN) was suspected. Bone marrow biopsy (smear and core biopsy) confirmed the diagnosis (Fig. ). JAK-2V617F, bcr-abl, CALR- and MPL- mutations turned out negative. PFA 100® test was normal, but von Willebrand factor (vWF) activity and vWF ratio were decreased, consistent with an acquired von Willebrand syndrome (vWS). Based on these results a cytoreductive treatment with hydroxycarbamide was initiated.
Because of the life-threatening degree of hyponatremia the patient was transferred to the ICU. In search of the reason for the hyponatremia, a diagnostic work up was started. After exclusion of renal failure (creatinine 33 umol/l, GFR 133 ml/min), use of diuretics, hypocortisolism and hypothyroidism, SIADH and CSW were the main differential diagnoses. Very low serum sodium (105 mmol/l) and high urinary sodium (22, later increasing up to 240 mmol/l) were consistent with both SIADH and CSW (Table ). However, central venous pressure was low (3 mmHg) and remained low even under high saline infusion indicating persistent hypovolemia, which favored the diagnosis of CSW. Serum sodium was slowly increased with NaCl solution, initially 3% and later 0.9%. After stopping intravenous sodium, sodium level could only be maintained with supplementation of NaCl capsules and fludrocortison 0.1 mg daily, indicating ongoing salt loss. Concomitantly, the patient showed an impressive salt craving. After 3 weeks under continuous hydroxycarbamide therapy, thrombocyte counts normalized, serum sodium returned to normal and all salt substitutions could be stopped (Fig. ). In parallel, the impaired mental condition of the patient slowly improved and finally returned to normal. The cytoreductive therapy (hydroxycarbamide 500 mg/day) was maintained. |
pmc-6637515-1 | A 56-year-old man was admitted to our hospital because of recurrent pain and impaired range of motion (ROM) of his right knee for over a year. His medical history included type 2 diabetes and hypertension which were poorly controlled. He told us his knee was mild painful and swollen at the first place about one year ago without any injury. He went to a local hospital of Traditional Chinese Medicine (TCM) and was treated with “small needle-knife acupuncture” and ozone injection into the knee joint for several times. His symptoms became better after these treatments. However, 2–3 months later, his knee pain and swelling came back and he was again treated with acupuncture and TCM plaster, as well as joint aspirations with corticosteroid injection. After these therapies his knee was painless for another 2 months before it became swollen and painful again. Approximately 5–6 times of aspirations and corticosteroid injections were given to him, but the time-period of pain-release became shorter and shorter.
On admission, he was afebrile, T 36.2 °C, BP 133/70 mmHg, P 83/min, R 16/min. His right knee joint was obviously swelling. A 3 cm × 3 cm local bump on anterolateral knee can be inspected, which was soft and painless on palpation. Joint line tenderness was present, and floating patella test was positive. His right knee has impaired ROM (100°-0–0°) and was painful when over-extension or over-flexion. Anterior drawer test, Lachman test and McMurray test were negative.
Blood tests showed elevated erythrocyte sedimentation rate (ESR, 29 mm/h, reference range < 20 mm/h) and C-reactive protein (CRP, 18.38 mg/L, reference range < 8 mg/L), while the white blood cell (WBC, 7.3 × 109/L, reference range 3.4–10.0 × 109/L) count and hemoglobin (HB, 140 g/L, reference range 131–172 g/L) were normal. Radiographs of both knees exhibited the formation of osteophytes and narrowing of joint space on the medial compartments which indicated osteoarthritis (Fig. a). MRI T2-weighted and SPAIR sequences demonstrated subchondral bone marrow edema in the lateral femoral condyle, and the presence of soft-tissue abnormalities, including capsulitis, extensive synovial hyperplasia, capsular fluid collection, and periarticular muscle edema (Fig. b).
The patient then underwent thorough arthroscopic debridement and partial meniscectomy of his right knee. Inflammatory synovium was observed under the arthroscopy (Fig. c). Meanwhile, his thick, yellow and turbid synovial fluid was harvested. The biochemical and cytological analyses of joint fluid were as follows: Rivalta test, +++; total cell, 454 × 109/L; WBC, 155 × 109/L (22% mononuclear neutrophils and 78% polymorphonuclear neutrophils); protein, 37.7 g/L; lactate dehydrogenase (LDH), 1841 U/L. The Gram stain and acid-fast stain of the fluid demonstrated no bacteria or tuberculosis. Representative isolates of Candida were cultured in the Sabouraud dextrose agar medium (Fig. d). Subsequently, Candida species was identified by Internal Transcribed Spacer (ITS) sequencing [] (forward primer ITS1, 5′-TCCGTAGGTGAACTTGCGG-3′; reverse primer ITS4, 5′-TCCTCCGCTTATTGATATGC-3′) and confirmed as C. parapsilosis by BLAST on NCBI (). The sequence of ITS gene amplified from this isolate was listed in Additional file . Notably, the budding cells and pseudohyphae were also observed in the synovial tissue by periodic acid-schiff (PAS) staining (Fig. e), which further confirmed the diagnosis of Candida arthritis. Susceptibility test was performed and yielded susceptibilities to 5-flurocytosine, amphotericin B, fluconazole, itraconazole, and voriconazole.
The patient was then treated with fluconazole 400 mg daily intravenously for three weeks and then switched to orally for one year. The pain and swelling of the knee subsided gradually, and the patient had no complaints of the aforementioned symptoms 4 weeks post-surgery. On one-year follow-up, the patient remained in a clinically stable condition and the last culture of joint fluid was negative for C. parapsilosis. |
pmc-6637526-1 | A 65-year-old woman came to the clinic of the First Hospital of China Medical University in January 2015 with main complaints of moderate headache and mild nausea. Her medical history included hypertension and coronary disease for 10 years, which were under control with oral medications. She was a non-smoker and a non-drinker, and denied any family history of cancer.
Physical examination revealed a palpable nodule in the lower right cervical zone, which was about 1.0 cm in diameter, painless, hard, and fixed with surrounding structures. No other significant clinical findings were detected.
Multiple enlarged lymph nodes in the right lower cervical and bilateral supraclavicular zone were detected by ultrasound. A chest computed tomography (CT) scan with contrast revealed a 1.5-cm nodule in the left upper lobe of the lung, with multiple enlarged lymph nodes in the left hilum and bilateral mediastinum. Brain magnetic resonance imaging showed a 1.2-cm nodule in the right parietal lobe with mild surrounded swelling. F18-Fluorodeoxyglucose (FDG) positron emission tomography CT (PET-CT) scan confirmed multiple lesions with increased FDG uptake (Fig. a–e).
An ultrasound-guided core needle biopsy of the cervical lymph node was performed in January 2015. Pathological and immunohistochemical (IHC) examinations indicated metastatic adenocarcinoma of the lung. The IHC staining revealed the following: carbohydrate antigen (CA)125 (+), CA199 (+), cluster of differentiation (CD) 34 (blood vessels+), caudal type homeobox 2 (CDX2) (−), cell keratin (CK) 19 (+), galectin-3 (±), Ki-67 (40%+), mammaglobin (±), naspin-A (+), paired box gene 8 (PAX8) (±), thyroglobulin (−), and thyroid transcription factor-1 (TTF-1) (+). EGFR gene detection showed L858R mutation in exon 21.
The patient was diagnosed with non-small-cell lung adenocarcinoma with clinical staging of T1N3M1b, stage IV (with synchronic brain metastasis), according to the American Joint Committee on Cancer version 7.0 [].
From February 2015, the patient started treatment with icotinib (125 mg tid orally). A partial response was achieved after 1 month (Fig. a and b). In October 2015, she complained of severe headache and nausea, and leptomeningeal metastasis was confirmed by CSF cytopathology. No progression of primary lung tumor or metastatic brain lesion was found at that time (Fig. c). Intrathecal chemotherapy with methotrexate was given (methotrexate 10 mg, every other day), and liquid biopsy using plasma and CSF was performed. Next-generation sequencing (NGS) reported EGFR gene amplification, primitive L858R mutation, and a new T790 M mutation in CSF, but not in plasma. Osimertinib was then administered (80 mg/day orally) from November 2015. The disease was controlled well, and all symptoms disappeared. Repeated NGS using CSF after 2 months of osimertinib treatment showed EGFR gene amplification and L858R mutation only, while T790 M mutation was undetectable.
In July 2016, the patient developed disease progression and was admitted to the hospital in a critical condition. She presented with severe headache, dizziness, nausea, and vomiting, with persistent high intracranial pressure of 240 mm H2O. The Eastern Cooperative Oncology Group (ECOG) performance status was 3. Intense surveillance and life-supporting care were given. Liquid biopsy using CSF showed EGFR gene amplification, L858R mutation, and a new L718Q mutation. A b-rapidly accelerated fibrosarcoma (BRAF) G466R mutation was also found. Supportive care and exploring therapeutics were given sequentially after obtaining informed consent, including high-dose icotinib pulsatile therapy (375 mg every 3 days, followed by 625 mg every 5 days), temozolomide oral administration (200 mg/day for 5 days), and bevacizumab intrathecal injection (100 mg), as described in previous studies [–]. No treatment-related side effects were observed, and clinical evaluation showed no improvement in cancer-related symptoms, signs, or laboratory findings (Fig. a and b). The patient failed to respond to any of these treatments.
In August 2016, about 1 week after all the exploring therapeutics failed, afatinib was challenged (40 mg/day orally). The patient tolerated the treatment well with grade 1 diarrhea only. All the symptoms related to the disease improved gradually. After 1 month, she complained of only mild headache and nausea, and her ECOG performance status improved from 3 to 1. The dynamic changes in the allelic variations and clinical factors during treatments are shown in Fig. a and b.
In December 2016, her symptoms became worse with disease progression. The patient passed away in January 2017. She survived for 23 months in total and for 15 months after suffering from leptomeningeal metastasis. The treatment timeline is shown in Fig. . |
pmc-6637537-1 | A six year-old, previously healthy female initially presented to the dentist with a cavity involving a right mandibular tooth, which was filled. Two days after the appointment, she developed mild facial swelling on the ipsilateral side. Symptoms progressed over the next week, and antibiotics were prescribed for a presumed odontogenic infection. The lesion was refractory to antibiotics, which resulted in her presentation to the Children’s Hospital of Eastern Ontario (CHEO) Emergency Department.
An ultrasound of the face and radiograph of the facial bones was completed (Fig. ). The radiograph demonstrated a mixed fluid and solid lesion within the right para-mandibular region, measuring 5.8 × 3.4 × 2.9 cm, and with similar consistency to bone (Fig. ). Similarly, ultrasound demonstrated a large, expansile, lucent, osseous lesion centered in the right mandibular ramus, and described with benign features. The differential diagnoses at the time included giant cell granuloma, dentigerous cyst, radicular cyst, odontogenic keratocyst, and ameloblastoma. In addition, infection could not be completely excluded.
The child was discharged home, with an urgent magnetic resonance imaging (MRI) and computed tomography (CT) ordered and performed one day after the emergency visit. MRI of the head demonstrated a cystic lesion centered along the ramus of the right mandible, measuring 3.6 × 3.8 × 4.8 cm (Fig. ). CT of the head demonstrated a lesion involving the right mandibular ramus, angle and posterior body with involvement of the 2nd mandibular molar (Fig. ). There was no airway or vascular compromise noted on either imaging modality.
A referral was made to Otolaryngology- Head and Neck Surgery. The patient was taken urgently to the operating room (OR) and a trans-oral biopsy of the mandibular mass was performed. Pathology revealed a multi-cytic lesions. The cysts were devoid of endothelial and epithelial lining and contain areas of hemorrhage. The septa lining the cysts were thick and formed of bland spindle myofibroblasts. Focal hemosiderin deposition and small, unevenly distributed clusters of giant cells were noted. A giant cell granuloma was the favoured diagnosis.
After diagnosis, oral maxillofacial surgery (OMFS) was consulted. The patient was taken again to the OR for enucleation of the tumour, decompression of the right inferior alveolar nerve, and biopsy. The child was to be followed-up by oncology after pathology results returned for consideration of interferon therapy.
Sixteen days later, while awaiting follow-up, the patient re-presented to the CHEO ED with facial swelling, pain and an inability to tolerate feeds. Additionally, she complained of numbness of the right tongue, which she had not experienced previously. Repeat CT demonstrated significant growth of the mass to 6.4 × 4.9 × 4.4 cm (Fig. ).
Pathology from the second excisional biopsy showed a lesion with multicystic component filled with clotted blood (Figs. and ). The cysts were devoid of endothelial and epithelial lining and contained areas of hemorrhage. The septa lining the cysts were thick and formed of bland spindle myofibroblasts (Figs. and ) and enclosed hemosiderin denoting organizing hemorrhage. Scattered small giant cells with a zonal pattern of distribution were noted. Mitotic activity was sparse with 1 mitotic figure/20 high power fields, identified in the spindle cells. Reactive bone formation was noted at the periphery of the lesion (Fig. ). The findings supported the original diagnosis of a giant cell granuloma. Interphase FISH analysis performed on a paraffin-embedded tissue slide using a dual colour breakapart probe for the USP6 gene locus (17p13.2) was consistent with USP6 gene rearrangement in 93/200 (46.5%) nuclei (Fig. ).
The patient was seen by Oncology and the consensus was that interferon therapy would not be warranted unless further resection was performed. Due to the significant size and location of the lesion, the adult Head and Neck Oncology subspecialty service was asked to evaluate the patient. Given the size, patient symptoms, and rapidly growing nature of tumor, the plan was for urgent surgical intervention including a tracheostomy, complete resection of right hemi-mandible and involved buccal mucosa and a complete reconstruction of mandible using a reconstructive titanium plate and condylar prosthesis. The decision to not reconstruct with a bony free tissue flap was made in conjunction with the OMFS team and the adult reconstructive team with the goal to delay the definitive reconstruction and to reassess once the patient was closer to fully grown.
The patient was taken to the OR and surgery proceeded as planned. There were no intraoperative complications. Due to ongoing diagnostic uncertainty, coupled with the malignant clinical behavior of the lesion, a 1.5 cm margin was excised. Postoperatively, the patient was monitored in an intensive care setting. A post-operative day 7 an MRI was obtained, and daily Interferon was started as per oncology at 3,000,000 units subcutaneous daily. The patient was decannulated post-operative day 10 and discharged home after a 13-day admission. Unfortunately she was then admitted on post-operative day 23 with an orocutaneous fistula confirmed via blue dye test. The Interferon at that point was stopped, as there is a known risk of wound dehiscence. She was made NPO and intravenous Cefazolin and Metronidazole were started. She was taken to the operating room for wound debridement and irrigation as well as to facilitate packing of the wound with ribbon gauze. Prior to discharge, packing was changed twice weekly. She was admitted for a total of 32 days and was discharged home on IV Clindamycin as per the Infectious Disease service and feeds via nasogastric tube. She returned to the operating room twice weekly for further packing changes. After 3 further packing changes, the fistula had completely healed and was confirmed to be closed via blue dye test. IV Clindamycin was continued for a total of 6 weeks, and oral Clindamycin then for a further 3 weeks. Further follow-up will include reassessment by the OMFS service and likely exchange to a longer titanium plate, followed by possible definitive reconstruction when she is closer to fully grown. |
pmc-6637548-1 | A 5-year-old nonconsanguineous girl of African American and Hispanic origin presented with nephrotic syndrome, including nephrotic-range proteinuria (UPC of > 29 mg/mg), edema, and hypoalbuminemia. Her initial serum creatinine was 654 μmol/L. Other pertinent laboratory evaluation at time of presentation included albumin of 19 g/L, BUN of 38 mmol/L, potassium of 6 mmol/L, bicarbonate of 12 mmol/L, calcium of 1.7 mmol/L, phosphorus of 2.5 mmol/L, and parathyroid hormone of 396 ng/L. She was oligoanuric and hemodialysis was initiated. An ultrasound of her kidneys showed diffuse echogenicity and loss of corticomedullary differentiation (Fig. ). Her history was significant for developmental delay and short stature. Her proteinuria presented in the setting of a previous respiratory illness but was not investigated. She has a normal-looking face and without dysmorphic features which was confirmed by the hospital’s geneticist. An ophthalmological examination did not show cataract or retinal changes. She has normal looking ears and exhibited normal hearing. She was normocephalic and did not have an exam consistent with GAMOS and no uro-genital anomalies were identified. She had normal birth history, and her family history was not significant for renal, cardiac or neurological development problems.
In addition to her kidney involvement, she had developmental delays with autistic features; including delays in expressive language, fine motor, social communication and repetitive hand movements. She had expressive, receptive, and pragmatic language difficulties with a low score in the auditory comprehension subtest of the Preschool Language Scales. Additionally, while awaiting renal transplant, she had two episodes of heart failure requiring inotropic support after having adequate dialysis for more than a month. She had severely elevated B-type natriuretic peptide (BNP) levels (> 70,000 pg/mL) and her echocardiogram showed systolic and diastolic dysfunction (ejection fraction as low as 35%) and dilated cardiomyopathy features (Fig. ). After receiving aggressive nutritional support and blood pressure management, her cardiac function improved with ejection fractions range in 40–50%. She received a living related kidney transplant without recurrence of cardiac symptoms, and normal cardiac structures on echocardiograms with ejection fractions > 60%. Given that we know NUP93 does localize to cilia in Xenopus during cardiac development, we cannot exclude there may have been a contribution of the patient’s mutations to this phenotype. After her kidney transplant, she did not have recurrence of her nephrotic syndrome, but had a brief period of proteinuria (maximum UPC of 3.6) that was monitored closely and resolved within one week.
Given her presentation of likely hereditary nephrotic syndrome, we sent clinical whole exome sequencing (WES). WES demonstrated a compound heterozygous mutations in NUP93; a maternal missense variant (chr16:56855426 A > G) c.A575G, p. Tyr192Cys and a paternal nonsense variant (chr16:56868107 C > G) c.C1605G, p. Tyr535Ter (Fig. ). Both variants are extremely rare, only 6 alleles of p.Tyr192Cys and 1 allele of p.Tyr535Ter have been reported previously in a large population database (gnomAD) with over 246,000 chromosomes, with a higher frequency of p.Tyr535Ter in African population (1 in 16,256). These allele frequencies are < 0.1%, which we have previously used as a cut off for filtering potentially pathogenic alleles []. The locations of the two variants are in the α helical domain of the NUP93 protein, as are some of the previously reported pathogenic mutations in Braun, et al. []. The tyrosine at position 192 is conserved through phylogeny, and the missense variant Tyr192Cys had high impact prediction scores for deleteriousness by CADD or SIFT. The nonsense variant p. Tyr535Ter likely results in defective protein structure either through truncation or nonsense-mediated mRNA decay. Additional analysis of her WES did not identify mutations related to cardiomyopathy. |
pmc-6637549-1 | A 54-year-old man was admitted to the emergency room (ER) of the Third Affiliated Hospital, Wenzhou Medical University on 20 July 2018. He had a 4-day history of chills, fever (39.0 °C), malaise, fatigue, myalgia and mild diarrhea, and had been treated with herbal medications for 2 days. His fever had been brought down; however, his fatigue and myalgia were exacerbated. He developed a yellowish complexion on the day prior to presenting at our ER.
Upon admission, the patient had a normal temperature of 36.5 °C, heart rate of 95 beats/min, blood pressure of 96/77 mmHg, respiratory rate of 18 breaths/min and oxygen saturation of 100% in room air. His Glasgow Coma Scale score was 13. He also had cutaneous and scleral icterus. The patient’s urine volume of 24 h was 210 ml. The most prominent appearance of his skin was numerous scattered rashes. Many dusky-purple pustular and petechial lesions appeared on his head, right elbow, right palm, hip and feet (Fig. ). No bite wound was seen. He was conscious with normal cardiac, pulmonary, abdominal and other physical findings.
In discussing recent events leading to his current conditions, he recalled being bitten on his right foot by a wild rat in his house 1 week prior to the onset of symptoms. He was alerted by the rat bite but did not experience any distress. The bite wound healed normally.
Computed tomography (CT) imaging of the head, chest and abdomen was unremarkable except for bronchiectasis in the right lung. Laboratory analyses found an elevated C-reactive protein (CRP) level of 225 mg/L, a white blood cell (WBC) count of 5.6 × 109/L with 89.8% neutrophils and a reduced platelet (PLT) count of 4 × 109/L. Additional findings included: procalcitonin level > 100 ng/mL, serum total bilirubin (TB) of 501 μmol/L, serum creatine (CR) concentration of 764 μmol/L, hemoglobin level of 171 g/L, serum albumin (Alb) concentration of 31 g/L, and alanine aminotransferase (ALT) level of 93 U/L.
The initial diagnosis included hemorrhagic fever with renal syndrome (HFRS), sepsis, kidney dysfunction and liver dysfunction. Because of the disease severity, the patient was transferred to our intensive care unit, and a blood sample was sent for bacterial culture. In the meantime, empirical treatment with an intravenous drip of tazobactam/piperacillin (4.5 g every 8 h) was initiated. Continuous renal replacement therapy (CRRT) was applied to treat renal failure. On day 4, blood culture yielded a negative result. However, the WBC count was further elevated to 13.1 × 109/L with 11.3 × 109/L neutrophils accompanied by re-emergent fever (peak 38.9 °C), and the CRP and Cr concentrations remained at high levels. Hepatic function continued to deteriorate (ALT from 93 U/L to 258 U/L in 6 days). Oral doxycycline (0.1 g every 12 h) was then added to the antibiotic regimen to broaden the antibacterial spectrum. No therapeutic response was observed. Considering blood culture had failed to reveal a pathogen, a pustular sample from his right ankle was collected and sent for unbiased meta-next generation sequencing (mNGS) (BGI, Shenzhen, China), in which the pool of detected sequences can match a sequence database of 8000 pathogens including bacteria, fungi, virus and parasite. Within 72 h, mNGS detected 86 of 20 million reads that matched S. moniliformis (Fig. ). To confirm infection by this rare pathogen, a specific PCR was performed using the same pustular sample. The resultant PCR product was confirmed by Sanger sequencing. The PCR primers were S5 (CATACTCGGAATAAGATGG) and AS2 (GCTTAGCTCCTCTTTGTAC), which target a S. moniliformis specific region of 16S rRNA []. The empirical tazobactam/piperacillin treatment was immediately replaced with penicillin (800,000 IU intravenously every 8 h) for 14 days. The patient’s clinical symptoms were improved after penicillin treatment. The skin pustular lesions erupted, then shrank and scabbed. His WBC count, CRP level, PLT count and serum Cr level returned to normal. The patient made a complete recovery during a follow-up of 3 months after discharge. |
pmc-6637575-1 | In March 2011, a fifty-year-old man underwent a THA with CoC bearings (BIOLOX, Smith & nephew, Switzerland) on the right side at our clinic because of femoral head necrosis after internal fixation for femoral neck fracture for 4 years. In this surgery, a titanium alloy size-5Standard Stem (Smith & nephew) was used, along with a 28-mm fourth generation ceramic head (Smith & nephew). The acetabular side consisted of atitanium alloy Shell (Smith & nephew) with a ceramic liner that had a ceramic bearing interface (Fig. ).
In September 2017, he presented at our clinic after an accidental fall on the right hip complaining of crunching noise but without pain, swelling, and disability. Examination of right hip showed normal range of motion. There was no pain during range of motion testing of right hip. He was diagnosed with ceramic head breakage by radiographic examination (Fig. ). Despite the surgeon’s strong recommendation based on the fracture of the ceramic head, the patient refused revision at that time.
Because of continuous crepitus in the right hip, a revision of the right THA was performed in November 2017. During revision, intraoperative findings included wear of the taper and neck of stem, a multifragmented head and intact ceramic liner. Considering the satisfied stability of stem and acetabular component, we performed revision of the head and liner with MoP with retaining the well-fixed stem and acetabular component (Fig. ). After aggressive debridement and thorough lavage, the incision was closed.
After 8 months, he was admitted to two hospitals consecutively complaining of low fever, loss of appetite and weight loss. Clinical examination revealed painless normal range of motion of the bilateral hips. No signs of infection were observed. X-ray showed huge soft tissue mass around right hip prosthesis. Computed tomographic (CT) scan at admission showed a mass extending to the pelvic without bone destruction. Laboratory analysis of inflammatory markers showed slightly elevated white cell count at 10.42 × 109/L (N: 87.6%), C-reactive protein at 46.92 mg/L, and erythrocyte sedimentation rate at 7 mm/h. Blood test for malignant tumors markers showed normal indicator. Based on his long history of THA and radiographic findings, clinical diagnosis of implants-associated chronic inflammatory mass was made. Thus, the patient was admitted to our clinic for further treatments.
X-ray and CT scan confirmed extensive muscle and soft tissue mass around the right hip prosthesis and in pelvis. Coronal T2magnetic resonance image showed significant artifact in the region of right hip joint and in the pelvis abutting the medial wall of the right acetabulum. Surrounding the prosthesis was extensive soft tissue and muscle edema affecting the adductor bundle, gluteus muscles, rectus femoris muscle and obturator externus. 99mTc-MDP bone scan indicated benign tumor without distant metastases in pelvis (Fig. ). A provisional diagnosis of necrotic pseudotumor was suggested. The patient’s serum C-reactive protein was 33.42 mg/L and erythrocyte sedimentation rate was 9 mm/h. His complete white cell count was elevated at 14.10 × 109/L (N: 81.0%). Serum ion analysis was conducted by inductively coupled plasma mass spectrometry (ICP-MS, ThermoFisher, USA). Serum ion concentration was shown in Table . Serum cobalt, chromium, titanium levels were significantly elevated 5 days preoperatively (serum Co = 1065.39 μ g/L, serum Cr = 19.58 μg/L, serum Ti = 106.27 μg/L). Given the clinical and imaging findings and serum analysis, combined with a history of CoC to MoP revision THA, we deemed that this patient’s symptoms were likely due to severe metallos is caused by third particle wear when a fractured ceramic head and subsequent multiple pseudotumor formation.
Surgical exploration with re-revision THA for severe wear and multiple pseudotumor formation was discussed with the patient and he underwent a re-revision THA by a lateral approach. During re-revision, extensive metallos is and dark gray tissue was visible around the joint, suggestive of multiple pseudotumor. The total volume of dark gray drainage from surrounding synovial sacs was about 100 ml. The pseudotumors and surrounding synovial sacs around prosthesis were then excised. The cystic soft tissue swelling herniated out under the inguinal ligament into the right pelvis. The dark gray fluid from pelvis was debrided aggressively and lavaged thoroughly. The intraoperative frozen section of the excised mass revealed less than 5 polymorphonuclear leukocytes per high-power field in all the three specimens. The patient’s hip was dislocated. The acetabular shell and femoral stem were well fixed, and therefore, these components were retained. A severe wear was noted around the metal head and polyethylene liner (Fig. ). The taper exhibited wear without fracture. Thus, on the femoral side, a ceramic head (32/+ 3.5 mm) (Zimmer, Switzerland) was used, along with a titanium sleeve (Zimmer, Switzerland). On the acetabular side, the polyethylene liner (Smith & nephew, Switzerland) was exchanged. The components were verified as being stable and synovectomy and extensive debridement were conducted before closing the wound. For excised mass, the histopathology analysis supported inflammatory response to metal particles, indicated by the presence of perivascular lymphocytes and necrotic tissue with fibrosis, fibrin material (Fig. ).
Intraoperative metalion of periprosthetic tissue and dark gray fluid analysis was done, showing increased cobalt, chromium, molybdenum and titanium concentration (Table ). It indicated metal head and taper erosion and consequent metal toxicity. At 2 months, a repeat serum metal ion analysis revealed a decrease in Co and Cr ions levels with their values being 453.07 and 9.52 μg/L, respectively (Table ). X-ray at immediate and 2 months postoperatively were unremarkable, while CT scan still showed cystic wall compares the solid pseudotumor preoperatively in pelvis (Fig. ). |
pmc-6637642-1 | This case report describes the case of a 10-year-old boy of Algeria origin living in Ile-de-France. Due to extremely painful thoracic swelling, the boy’s parents brought him in September 2012 to our hospital. This small nodular swelling was apparent from birth and progressively increased in volume. The chest pain appeared when the boy was 10-years old and his parents consulted for a treatment request at the pediatric hospital Robert Debré. The boy failed to receive treatment prior to this. He had never experienced thoracic trauma and he did not possess any known prior medical pathology. He had no risk of exposure to toxins in his environment. Moreover, no similar case was noted in his family and there is no hereditary disease and no consanguinity between parents.
An initial clinical examination showed a well-developed child with no other physical abnormalities. His weight was 41.7 kg, blood pressure 85/140 mmHg, pulse rate 60 pulses/minute, respiratory rate 15 cycles/minute, and temperature 37 °C. His Glasgow Coma Score was 15/15. His cognitive functions were preserved. Sensitivity, motor skills, and osteotendinous reflexes were preserved in his limbs. There was no motor coordination disorder. There was no sphincter deficit. However, a clinical examination revealed a swelling of the right hemithorax (5 cm × 2.5 cm) on the midclavicular line and the fifth intercostal space. His respiratory movements caused the swelling to vary and enlarge with Valsalva maneuvers. Pulmonary and cardiovascular auscultation was normal. We diagnosed a congenital intercostal lung hernia based on the clinical information. A standard X-ray of his chest showed no anomaly for his lungs and thoracic wall (Fig. ). Laboratory findings showed hemogram, blood serum ionogram, serum creatinine, and liver function within normal range. Given the symptoms, we determined a surgical treatment was most appropriate. Two thoracic and vascular specialty pediatric surgeons performed this with a right-sided chest thoracoscopy. Under general anesthesia, our patient was placed in a left lateral position (Fig. ) and a 5 mm camera port was inserted in the sixth intercostal space on the posterior axillary line. Two working ports were also inserted: one in the sixth intercostal space behind the posterior axillary line and the second in the ninth intercostal space on the posterior axillary line.
The camera revealed an intercostal defect consisting of a muscular and aponeurotic aplasia of 4 cm × 2 cm, covered by the parietal pleura (Fig. ). A polytetrafluoroethylene (PTFE) mesh was inserted to close the defect without incising the hernial sac (Fig. ). Two semi-continuous sutures were performed with Mersuture 2/0 (Additional files , , , , , , and ). No complications occurred and a thoracic drain was placed for 48 hours. The repeated clinical and radiographic controls were normal after 1, 3, 6, and 12 months. |
pmc-6637665-1 | The patient was a 33-year-old gravida 0 para 0 and had been diagnosed with MDD at the age of 26 years. Although duloxetine had improved her depressive symptoms, she had a relapse of MDD at around 13 weeks' gestation after cessation of duloxetine because of pregnancy at 5 weeks' gestation. Her depressive symptoms then worsened despite resuming duloxetine and she finally attempted suicide. She was admitted to our hospital at 26 weeks' gestation. She did not respond to duloxetine 40 mg/day and experienced loss of appetite and sustained suicidal ideation. She could not tolerate the adverse effects of duloxetine 60 mg/day or aripiprazole 3 mg/day as augmentation therapy (both resulted in headache). A switch to imipramine 25 mg/day caused akathisia, so duloxetine 40 mg/day was resumed because it was tolerated. ECT was then proposed as an adjunctive treatment. After obtaining informed consent from the patient and her family members, we administered a bilateral brief pulse of ECT to achieve a rapid response [] and improve her suicidal ideation [].
The patient underwent the first application of ECT at 30 weeks' gestation and FHR was monitored by obstetricians and pediatricians using cardiotocography and fetal echocardiography before and after ECT. ECT was administered twice a week using a Thymatron® System IV machine (Somatics LLC, Lake Bluff, IL, USA). All ECT sessions used an electrical stimulus of 10%–25% to induce the appropriate generalized cerebral seizure with good efficacy. The first and second sessions of ECT caused fetal tachycardia ≥180 bpm for more than 30 minutes (). At first, we assumed that the first stimulus dose of ECT had been so high that fetal tachycardia had occurred, so the stimulus dose was lowered in the second session. Nevertheless, fetal tachycardia occurred during the second session of ECT; we considered that the length of maternal apnea affected the fetal cardiac symptoms, so we started oxygenation just after the electric stimulus. The fetus did not have persistent elevation of FHR in the third, fourth, and fifth sessions of ECT. Meanwhile, cardiotocography recorded uterine contractions after ECT from the third session onward. On the sixth session of ECT, FHR monitoring showed tachycardia for around 120 minutes again. During monitoring, though cardiotocography did not show acceleration, baseline variability was within normal limits and decelerations were not seen. The patient had a partial remission (a change in her Hamilton Rating Scale for Depression-24 score from 36 to 26 points) with recovery of appetite and relief of suicidal ideation after the 6th session of ECT. We were concerned about the risk of preterm labor caused by administration of ECT and decided to terminate ECT because the uterine contractions had been longer at the most recent session (lasting around 120 minutes) than previously, and the risks of continuing ECT by then outweighed the benefits.
The patient was discharged at 34 weeks' gestation and delivered a healthy baby (female, weighed 2,812 g, Apgar score of 9/10 at 1/5 minutes) at 38 weeks' gestation. The infant has been followed up by the Department of Pediatrics at our hospital for two years and the patient has achieved a complete remission. |
pmc-6637666-1 | A 77-year-old female with hypertension and hyperlipidemia experienced staggering while walking 3 months ago. She fell and bruised her head 2 months ago. At that time, head computed tomography revealed hypodensity in the right parietal region. She presented with a feeling of light-headedness during walking to our hospital. Neurological examination revealed only mild ataxic gait without any other objective neuropsychological deficits. In addition, no cognitive impairment was recognized. Brain MRI revealed an area of abnormal signal and mild parenchymal swelling in the bilateral and asymmetric parietal lobe. Precisely, subcortical hyperintensity was noted in the bilateral and asymmetric parietal lobe on T2-weighted and fluid-attenuated inversion recovery (FLAIR) images and apparent diffusion coefficient (ADC); however, these lesions were not recognized in diffusion-weighted imaging (DWI), indicating vasogenic edema (). Moreover, T2∗-weighted gradient echo (T2∗-GRE) imaging revealed some subcortical microbleeds in the right parietal lobe, and postgadolinium T1-weighted images exhibited no enhancement. Considering her clinical characteristics and MRI findings and excluding the differential diagnosis as infection and brain tumor, she was diagnosed as probable CAA-ri based on the proposed criteria for CAA-ri []. We neither performed a brain biopsy to definitively diagnose CAA-ri nor initiated immunosuppressive therapy; instead, we decided to monitor her condition so as to prevent the apparent risks as her clinical symptoms were minimal. During the 4-month follow-up, her symptoms spontaneously disappeared without treatment. After 4 months, brain MRI revealed a reduction in hyperintensity on FLAIR images and reduced subcortical microbleeds in the right parietal lobe (). After 12 months following the symptom onset, the patient remains asymptomatic, with stable brain imaging without receiving immunosuppressive therapy. |
pmc-6637670-1 | A 71-year-old woman who weighed 59 kg was scheduled for total aortic arch replacement for treatment of a distal aortic arch aneurysm. The patient was primarily diagnosed with MG (Myasthenia Gravis Foundation of America Classification IIa) 3 years ago by a positive anti-acetylcholine receptor antibody and a positive edrophonium test. Since her MG was unresponsive to oral prednisolone and pyridostigmine and since thymoma was detected by computed tomography, thymectomy was performed a few months after diagnosis of MG. After thymectomy, her clinical symptoms significantly improved and oral prednisone was tapered to 6 mg daily. A physical examination conducted on admission to our hospital showed normal muscle strength.
On arrival in the operating room, an electrocardiogram, pulse oximeter, and noninvasive blood pressure monitoring were set up, and venous and radial artery catheters were inserted under local anesthesia. Rectal, bladder, and tympanic temperatures were monitored throughout surgery. Neuromuscular monitoring was recorded from the adductor pollicis muscle with train-of-four stimulation of the ulnar nerve using TOF-Watch (MSD, Japan). After preoxygenation with 100% oxygen, general anesthesia was induced with intravenous administration of 0.05 mg/kg midazolam and 2.5 μg/kg fentanyl. TOF count of 0/4 was achieved by 0.5 mg/kg of rocuronium, followed by tracheal intubation without difficulty. After induction of general anesthesia, a transesophageal echocardiography probe and a central venous catheter were inserted. General anesthesia was maintained with inhalation of sevoflurane, continuous infusion of propofol, and intermittent administration of fentanyl and rocuronium. An additional 0.2 mg/kg of rocronium was administered after spontaneous neuromuscular recovery of T2 (second twitch of the train-of-four series). After median sternotomy, CPB was established with arterial perfusion via the ascending aorta and bicaval venous drainage. DHCA was achieved with selective antegrade cerebral perfusion at a tympanic temperature of 21°C. After the distal anastomosis was completed, DHCA was stopped and the systemic circulation was resumed through a side branch of the graft. Then, total aortic arch reconstruction was completed. The DHCA time and CPB time was 39 min and 146 min, respectively. Rocuronium was administered at total doses of 1 mg/kg, 0.4 mg/kg, and 0.2 mg/kg before, during, and after CPB, respectively. There was no patient movement throughout the procedure. Fentanyl was administered at a total dose of 20 μg/kg during anesthesia. TOF count at the end of the surgery was 1/4 and the patient was transferred to the intensive care unit immediately after surgery. The patient gained consciousness and spontaneous ventilation was established shortly after administration of 200 mg of sugammadex. The trachea was extubated 5 hours after surgery. The patient's postoperative course was uneventful. |
pmc-6637673-1 | A 71-year-old woman was admitted to the Emergency Department by ambulance with a sudden feeling of faintness and a weakness in both legs. In her medical history she had hypertension and osteoporosis without fractures. Due to a coronary heart disease she received a drug eluting stent (DES) in the left anterior descending coronary artery in 2011. On admission laboratory results revealed a mild elevated troponin I (189 ng/l [normal < 45 ng/l]), initially treated conservatively. On day 2 after hospitalization troponin I level reached 7510 ng/l, qualifying for a non-ST-elevated myocardial infarction (NSTEMI). Subsequently, a percutaneous transluminal coronary angioplasty was performed with insertion of a DES into the right coronary artery. She recovered well from this intervention and troponin I levels dropped to normal levels. Subsequently, a treatment with a dual platelet aggregation inhibitor was initiated (100 mg acetylsalicylic acid and 75 mg Clopidogrel). In parallel to the elevated troponin I on admission, an elevated calcium level of 3.35 mmol/l (normal range 2.15-2.55 mmol/l) was found. Subsequently, there was a decreased serum phosphate (0.36 mmol/l [normal 0.81-1.62 mmol/l]) and vitamin D level (47 nmol/l [normal 50-250 nmol/l]) as well as a 16-fold elevated serum level of parathyroid hormone (PTH) (1156 ng/l [normal 18.4-72 ng/l]).
A symptom of the hypercalcemia was polydipsia and consequently the patient also complained about polyuria, but no other clinical manifestation of hypercalcemia such as nephrolithiasis, bone pain, or dyspepsia was noted. On careful clinical evaluation the patient reported a mild dysphagia. A firm and not mobile node on the right side of the neck was palpable. Sonographically a 5 cm right sided thyroidal mass was detected, not clearly definable from the trachea. Using the Thyroid Image Reporting And Data System (TIRADS), the node was categorized as highly suspicious for malignancy (TIRADS 5). Fine Needle Aspiration (FNA) revealed a monomorphic, partial follicular cell population () with focal weak immunohistochemical positivity for PTH. Following these results, a histological clarification was indicated.
Computer-assisted tomography (CT) as well as a MRI of the neck revealed a 5 cm large tumor at the right caudal pole of the thyroid with compression of the dorsolateral trachea without obvious infiltration, not distinguishable between thyroid and parathyroid, and tracheal stenosis was about 50% (). For a clear distinction between thyroid or parathyroid mass, a parathyroid 99mSestamibi-CT scan was performed. The parathyroid gland takes up radioisotope Technetium-99m Mibi (99mTc) scintigraphy. A second image is obtained after a washout time and mitochondria in the oxyphil cells of the abnormal gland retaining the 99mTc are seen with the gamma camera. The investigation was early stopped, because the patient complained about severe pain. The gained early images showed nodal high uptake of 99mTc Mibi at the right side of the trachea, pointing to a parathyroid origin. Treatment with Cinacalcet 30 mg twice a day was initiated which increases the sensitivity of calcium receptors on parathyroid cells to reduce PTH levels and thus decrease serum calcium levels. Following this treatment calcium levels dropped to nearly normal levels and PTH was still elevated 8 weeks after recovery from the NSTEMI.
A complete surgical removal with en bloc resection of the right hemithyroid with parathyroidectomy was performed. Intraoperatively a large tumor was present, and the recurrent laryngeal nerve could not clearly be identified. Electrostimulation of the assumed nerval structure was unsuccessful. Postoperatively, vocal nerve paresis of the right side was detected in laryngoscopy. After resection PTH values dropped to 90.2 ng/l intraoperatively and postoperatively to 12.1 ng/l. Serum calcium levels normalized to 2.25 mmol/l. While expecting a hungry bone syndrome, a substitution with 1.25-diOH-cholecalciferol and oral calcium was initiated. Without substitution a hypoparathyroidism could lead in the acute phase to tetany with perioral numbness, paresthesia of the extremities, and muscle cramps and in the chronic phase to basal ganglia calcification with movement disorders or dementia, cataracts, or dental defects. Some patients have fewer specific symptoms such as fatigue, hyperirritability, anxiety, or depression and some patients, even with severe hypocalcemia, have no neuromuscular symptoms. Cardiac findings may include a prolonged QT interval, hypotension, heart failure, and arrhythmia. Postoperatively no signs of hypoparathyroidism were obvious, but the patient had dyspnea in context of cardiac insufficiency, averting logopedic voice exercises.
Macroscopic evaluation of the operation specimen revealed a maximal 5 cm large 20g weighing specimen. The cut surface showed a multinodal, partially not clear demarcated protruding greyish-brown firm tumor with hemorrhagic areas, infiltrating the thyroid gland (). Microscopic examination showed a parathyroid tumor with multiple fibrous bands dividing the neoplasm into lobules with cellular areas arranged in sheets and trabeculae (). The tumor cells were medium to large sized with round to ovoid nuclei containing dense chromatin, inconspicuous nucleoli, and abundant eosinophilic granular to clear cytoplasm. Nuclear pleomorphism was partially present () but no mitotic activity. Immunohistochemically, the tumor showed an expression of PTH () and Galectin-3 and a weak expression of CDKN1B (p27) which is often found in PC []. The proliferation rate (as determined by the Ki-67 expression) was 5%. The tumor showed an invasion into the thyroid gland with tongue-like formations and after careful examination, an infiltration of perineural spaces () was found which confirmed the diagnosis of a PC. |
pmc-6637682-1 | The patient J.C.P.R., male, leucoderma, 32 years old, appeared at the Outpatient Clinic of Buccomaxillofacial Surgery and Traumatology of the Hospital Beneficência Portuguesa of Bauru/São Paulo/Brazil, with the main complaint of unilateral posterior open bite, limitation of mouth opening amplitude, and sensibility loss in the mentalis region. During the medical-dental questioning, he reported having suffered a car accident about one year and three months ago, which motivated the fracture, generating painful discomfort, being this symptom relieved by the continuous use of analgesics and anti-inflammatories, delaying the search for a treatment. He denied visual and respiratory alterations.
Physical examination revealed an increase in volume in a region of the right mandibular angle, in addition to a misalignment of the mouth without evident signs of fever or inflammatory process, which indicates the possible pseudoconsolidation of the fracture. In the radiographic examination, we observed an overlap of the fractured stumps in the same area with the absence of other sequelae (). It has been seen that the patient had suffered a simple fracture at the mandibular angle, however without any reduction; therefore, a sequela treatment was needed.
The patient was in HDD, submitted to general anesthesia, and performed intra- and extraoral antisepsis with degermant and topical Pvpi, placed in sterile fields. After marking, the incision in the Risdon approach with blade number 15 and divulsion in planes with Metzenbaum scissors began. When the facial nerve was located, the same was gently moved away to be protected. When the pterigomasseteric band was located, it was incised and detached with molti; the detachment extended over the entire length of the fracture until the complete view of the lingual plate. With the help of a chisel and a hammer, the locks were released ().
There was no sign of osteomyelitis or obvious inflammatory processes. An osteoid mass of disorganized tissue was found and easily removed. Among the stumps, vascularization was observed within the norms of normality, which certainly favored bone repair. The insertion of Erich's bar and intermaxillary block was performed, obeying the functional occlusion. Again, in the Risdon approach, the fracture was reduced after ostectomy, removal of the osteoid mass. It was fixed with titanium plates and screws ().
The adjacent musculature was sutured and finalized with 6.0 mononylon. In the 7-day postoperative period, it had good cicatricial appearance, stitches were in position, there was an absence of inflammatory signs, there was occlusal stability, and the patient denied painful discomfort, demonstrating that, even late, the procedure for reducing the fracture sequel is effective including the correct occlusal adjustment.
The patient followed a postoperative follow-up for 7, 14, 21, 35, and 64 days, presenting evolution within normality patterns (). There was an absence of secondary infections, and there was occlusal restoration. However, due to the fact that he had sought the service after one year and three months, it was not possible to reverse the paraesthesia. |
pmc-6637684-1 | On April 2008, a 37-year-old male from Mexico City, with diagnosis of atopic dermatitis since he was 5 years old, presented to dermatology service and was treated with efalizumab 1 mg/kg/SC/weekly for two months. The patient received twelve doses of efalizumab, but the drug was suspended due to herpes zoster dermatitis (), and treatment with acyclovir was indicated with adequate clinical response. Two months later, the patient developed generalized erythroderma, finding high levels of total serum IgE (48,700 UI/ml) and interleukins levels: TNF 39.7 pg/ml, IL-1β 5 pg/ml, IL-2R 1086 IU/ml, IL-6 11.9 pg/ml, and IL-8 8.66 pg/ml, showing increased levels of proinflammatory cytokines. He was sent to the service of clinical immunology and allergy, where he was diagnosed with HIES. To evaluate the pathway of IL-21, PBMCs of the patient were stimulated with rhIL-21 (militenyi) for 15 minutes and phosphorylation of STAT3 was evaluated by flow cytometry. The mAbs used were anti CD19-APC, anti-pSTAT3 (Y705)-PE, and isotype controls (mouse IgG1) from BD Pharmingen and Santa Cruz Biotechnology. Flow cytometry was performed on CYAN-ADP cytometer (Beckman Coulter). Cells were analyzed using Flow Jo 8.8 software (Tree Star). On September 2008, the clinical manifestations were dry skin and lichenified upper limbs and chest, generalized itching, peeling, and scratching scars, treated with hydroxyzine 10 mg every 8 hours, efalizumab, emollients, and general measures. On January 2009, the treatment was modified with monoclonal antibody omalizumab 300 mg every two weeks, with initial levels of total IgE 127,000 IU/ml. We made a new clinical assessment at 6 weeks; the patient presented clinical improvement with eczematous lesions on the chest and upper limbs and secondary hypochromic lesions and traces of scratching. Reassessing their total serum IgE levels in 439 UI/ml, we decided to increase omalizumab dose to 350 mg every two weeks. On May 2013, the patient presented skin lesions exacerbation with erythema, itching, eczema, and erythroderma. To 2013 the patient received 74 doses of omalizumab with stability of clinical manifestations. Eczema and total IgE levels were decreased even though with variations. The variations of CRP (C-reactive protein) do not correlate with the clinical manifestations of the patient and IgE levels (Figures and ). The patient decided to stop the treatment by personal decision. |
pmc-6637689-1 | An 85-year-old female presented to the emergency department with a three-hour history of a typical anginal chest discomfort associated with shortness of breath, diaphoresis, nausea, and vomiting. The patient denied a history of coronary heart disease and was well anticoagulated for an atrial fibrillation. The patient was afebrile and her heart rate was 123 beats per minute with a blood pressure of 65/40 mmHg. Her oxygen saturation was 92% on 4 l/min via nasal cannula. On physical exam, she was in respiratory distress with a respiratory rate of 30 per minute and had no peripheral edema. On auscultation of the chest, she had diffuse bilateral crackles. The cardiac examination revealed an irregular rhythm without murmurs. Electrocardiogram (ECG) on presentation demonstrated ST elevations in leads I and aVL and ST depressions in leads II, III, aVF, V5, and V6 (Figures and ).
Blood gas analysis (BGA) revealed increased lactate of 4.2 mmol/l.
She underwent an emergency coronary angiography. The left main coronary artery (LMCA) could not be engaged with conventional diagnostic catheters for which an aortic root angiography using a pigtail catheter was performed and raised suspicion that the left coronary artery (LCA) was originating from the right coronary sinus. The injection of contrast in the right coronary sinus demonstrated an anomalous LCA separately arising from the right coronary sinus. The culprit lesion was a 100% occlusion in the distal LMCA and proximal left ascending artery (LAD) with grade 0 TIMI flow (). For the intervention, a 6F Amplatz right guide catheter (AR-1) was chosen, which engaged the LCA-ostium and provided an acceptable backup. Percutaneous intervention was performed with two drug-eluting stents achieving grade 3 TIMI postintervention without residual stenosis or complications (). The left coronary circumflex (LCX) was hypoplastic; therefore, it was ignored in the intervention strategy. The right coronary artery (RCA) was dominant and was divided at the crux of the heart into two large branches and continued posterolaterally as a large posterior lateral branch.
Postintervention ECG showed no significant ST elevations or ST depressions (Figures and ).
During the procedure, a vasopressor was infused in small doses and multiple doses of intravenous diuretics were given.
After that, the patient was transferred to an intensive care unit; she did not require invasive ventilation. In two days, she was weaned off catecholamines and stepped down to the ward in good clinical status. |
pmc-6637709-1 | A 36-year-old male, with no medical history, was referred to the Clinical Hospital of the Federal University of Goiás, Goiânia, Goiás, Brazil, for evaluation of an asymptomatic radiolucent lesion in the posterior mandible region. Cone-beam computed tomography (CBCT) scan showed a well-defined unilocular radiolucency associated with an impacted right third molar, extending to the distal root of the second molar, measuring 17 × 12.5 mm (). Intraoral examination revealed signs of healthy gingiva; absence of teeth 16, 36, 37, and 46; and absence of bone expansion. However, clinical attachment loss in the distal root of tooth 47 with pulp vitality was verified. Previous aspiration was negative and previous diagnosis of dentigerous cyst was made. Due to the small size of the lesion, the treatment choice included tooth removal, enucleation, and peripheral osteotomy. A thick cystic wall was evident during the surgical procedures.
The histopathological examination revealed cyst wall lining by nonkeratinized stratified squamous epithelium with varied thickness (). Duct-like structures surrounded by cuboidal cells and numerous mucous cells were also identified (Figures and ). The superficial layer of the epithelium showed columnar ciliated and eosinophilic cuboidal cells, also called “hobnail cells” ().
Glycogen-rich and mucin-secreting cells were highlighted by periodic acid-Schiff (PAS), periodic acid-Schiff diastase (PAS-D) (Figures –), and mucicarmine staining (). A final diagnosis of GOC was made following the criteria established by Fowler et al. []. The postoperative orthopantomogram (OPG) revealed no recurrence one year postsurgery (). |
pmc-6637778-1 | A 37-year old female with a history of lower segment cesarian section (LSCS) performed four years previously presented with the chief symptom of discharge from the incision site. MRI of the pelvis was performed, which revealed an enhancing fistulous tract originating from the site of the lower segment of the cesarean section and traversing through the parietal wall opening at the right edge of abdominal incision scar (). The diagnosis of uterocutaneous fistula following LSCS was formulated. After exploratory laparotomy, excision of the tract was performed followed by administration of broad-spectrum antibiotics with postoperative imaging showing no active tract (). The patient remains under follow-up and is currently free of symptoms. |
pmc-6637781-1 | Our patient was a 31-year-old, gravida 0 woman with regular menstrual cycles. She had been married for two weeks. She was admitted to our clinic because she was unable to have vaginal sexual intercourse. The patient had undergone genital mutilation at the age of 7 years in Somalia. A gynecologic examination revealed a totally excised labia majora and labia minora and clitoris, and a single orifice was observed in the perineum ().
Detailed counselling was conducted by the gynecologist and a written signed consent was obtained that covered an explanation of the de-infibulation procedure, and the patient also gave consent for the publication of the case. The de-infibulation procedure was performed under anesthesia. The patient was prepared in the lithotomy position under sterile conditions. A Kelly clamp was gently inserted through the orifice and moved caudally into the tunnel-shaped space formed under the fusion line of the scar tissue. The scar tissue was then excised medially under the guidance of the Kelly clamp. The urethral orifice was observed at the upper part of the vaginal introitus and the hymenal membrane was found to be intact (). The separated ends of the remains of the labia were repaired by suturing. Subsequently, bladder catheterization was performed in order to control the patency of the urethra, which showed a normal urethra (). At the end of the procedure, a dressing with estriol cream and nitrofurazone was applied on the incision site in order to enhance epithelization. The patient had daily cleaning and dressing applications and was discharged uneventfully at day 3 postoperatively. The couple upon discharge was referred to the sexual dysfunction clinic of the hospital. During the 2-month follow-up after the surgery, the patient had a full recovery and was able to perform vaginal intercourse uneventfully. |
pmc-6637786-1 | A 37-year-old woman was admitted to the emergency department with sudden-onset severe headache, vomiting, and loss of consciousness. She was unconscious and intubated at admission. The Glasgow Coma Scale (GCS) was detected as 5 eye response (E): 1, verbal response (V): 1, and motor response (M): 3 in a neurologic examination. Light reflex could not be taken bilaterally and pupils were miotic. Flexion response to painful stimuli was obtained. It was determined that the patient was pregnant at admission. The patient who was G7 P4 A0 D&C 2 had not received any obstetric care during pregnancy. A single live fetus compatible with 34 weeks’ gestation and oligohydramnios was found. A vaginal examination revealed a multipara dilatation and no active vaginal bleeding. Her blood pressure was 120/70 mm Hg. The complete blood count and biochemical parameters were found within normal limits. Cranial computed tomography (CT) and CT angiography were decided to perform as a result of neurology and neurosurgery consultations. Cranial CT and CT angiography were performed with protection of the abdomen. A hematoma was detected in the left Sylvian fissure. Additionally, there was hemorrhage in all ventricles, which was compatible with stage IV SAH according to the classification of Fisher (). The Yasargil classification was compatible with grade IV.
After the evaluation of the clinical status of the mother, a cesarean delivery was decided. The cesarean section procedure was performed under emergency conditions and a 2520 g live male baby with a 9-10 Apgar score was delivered. External ventricular drainage was performed from the right Kocher point by a neurosurgery team for the SAH of the patient immediately after the cesarean delivery. The mean arterial structures and Sylvian fissure were reached with an approach from the left side. A ruptured aneurysm with active bleeding was seen in the left MCA tract, which was clipped. The patient was taken to the intensive care unit after the operation. The clips were checked in follow-up cranial tomography (). Unfortunately, the patient died four days after the operation. |
pmc-6637800-1 | A 4-year-old girl was brought to our emergency department with decreased level of consciousness since an hour before. She was the second child of the family whose father was an opium addict on MMT. The methadone had been kept in a bottle like pediatric syrup bottle and the girl was mistakenly given methadone instead of cough syrup by her mother. Upon arrival she had a Glasgow coma score (GCS) of 7/15, a heart rate of 145 bpm, a respiratory rate of 32 breaths/minute, blood pressure of 132/76 mmHg and a temperature of 36.8°C with an oxygen saturation of 85% in room air. Her pupils were myotic and responsive to light and other examinations were within normal limits, so treatment by naloxone (0.1 mg/kg) was started for her. Since there was no response to the initial therapy, she was admitted to the intensive care unit (ICU) and maintenance naloxone (0.16 mg/kg/h) was started. Her electrocardiogram showed tachycardia with QT interval of 440 milliseconds and ST segment elevation in aVR and T wave inversion V1, V2 and V3 (). Laboratory investigations revealed white blood cell (WBC) count of 31,800 /mm3, hemoglobin of 11.9 mg/dL, platelet count of 291,000/mm3, blood urea nitrogen (BUN) of 24 mg/dL, creatinine (Cr) of 1.7 mg/dL, sodium of 133 mEq/L, potassium of 6 mEq/L, blood sugar of 113 mg/dL, calcium of 8.9 mg/dl, creatine phosphokinase (CPK) of 32,000 IU/L, lactate dehydrogenase (LDH) of 6,030 IU/L, troponin of 6.18 U/L, prothrombin time (PT) of 24.4 sec, partial thromboplastin time (PTT) of 48 second, SGOT of 123 U/L and SGPT of 1545 U/L.
Transthoracic echocardiography revealed left ventricular ejection fraction of 25% with akinesia of posterior wall and hypokinesia of septum. She was diagnosed with stress cardiomyopathy and acute heart failure and thus the management of heart failure including diuretics and inotropes was stared for her. On the second day of admission, she developed respiratory arrest and thus was intubated and connected to the ventilator with GCS of 3/15. Brain CT-scan showed bilateral cerebellar infarction and edema and diffuse brain edema. Neurologist was consulted and medical management of intracranial hypertension was started. The patient received hypertonic saline (5mg/kg as bolus dosage and 3mg/kg every 6 hours) and mannitol (1 mg/kg/dose). However, unfortunately she died on the third day despite intensive care management.
An 18-month-girl was transferred to our center from a primary healthcare center due to decreased level of consciousness several hours prior to presentation. She was reported to be treated with 3cc of methadone solution by mistake instead of diphenhydramine because of coryza signs and symptoms. On admission to the primary center, she had a GCS of 14/15, a heart rate of 135 bpm, a respiratory rate of 26 breaths/minute, blood pressure of 127/67 mmHg and a temperature of 36.8°C with an oxygen saturation of 98% in room air. Her pupils were myotic with response to the light. With the primary impression of methadone poisoning, naloxone (0.1 mg/kg) had been administered in the primary center and then she was transferred here. She was also reported to have had 2 episodes of tonic-clonic convulsions in the ambulance during the transfer for which diazepam (0.1 mg/kg) was administered. On admission to our center, she had GCS of 8/15 and she had bradypnea with abdominal respiration and O2 saturation of 84% without oxygen supplement, blood pressure of 117/67 mmHg, a temperature of 37.5°C with myotic pupils that were reactive to light and upward plantar reflex (Babinski), so naloxone infusion was continued (0.16 mg/kg/h). She was intubated and transferred to ICU. She had two episodes of tonic clonic convulsion for which midazolam infusion was started (0.05 mg/kg/hr). Laboratory examination revealed WBC count of 18,000/mm3 (88%PMN, 11%Lymphocyte), hemoglobin of 8.6 mg/dL, platelet count of 390,000/mm3, BUN of 18 mg/dL, Cr of 0.7 mg/dL, sodium of 140 mEq/mL, potassium of 4.7 mEq/L, blood sugar of 102 mg/dL, CPK of 3,050 IU/L, LDH of 2,375 IU/L, PT of 20 second, PTT of 28 second, SGOT of 6220 U/L, SGPT of 5740 U/L and CRP of 73 mg/L. The ECG also showed sinus tachycardia and prolonged QT interval (). On the second day, she had another episode of convulsion with decrease in O2 saturation. She developed bilateral fine rales in lung examination in favor of pulmonary edema, so infusion of furosemide (1 mg/kg q2h) was started. Chest radiography revealed pulmonary edema. Brain CT scanning demonstrated a small area of ischemia and hydrocephaly.
In echocardiography, ejection fraction of 15% with diffuse hypokinesia and mild mitral valves regurgitation has been showed. She was diagnosed to suffer from stress cardiomyopathy for which management of heart failure was started. After 3 days of conservative management with naloxone (0.1 mg/kg/dose) and phenobarbital (0.15 mg/kg q12h) the patient developed spontaneous respiration and was extubated 2 days later. Her GCS increased to 14/15 and echocardiography revealed normal cardiac function. She was discharged from the hospital on the 12th day while she was completely awake with normal echocardiography. On the 6-month follow-up she had normal daily activity and normal echocardiography without signs of cardiac failure. She did not have any seizure so the anticonvulsants were tapered. |
pmc-6637807-1 | The first case was a 50-year-old man with acute-onset epigastric and right upper abdominal pain. Abdominal ultrasonography demonstrated free abdominal fluid with internal clots. CT angiography was performed, which revealed a ruptured proper HAA with hemo-peritoneum in perihepatic space, para-colic gutters, and massive abdominopelvic hematoma. A simultaneous visceral aneurysm was also detected at the origin of the left gastric artery. The exploratory laparotomy revealed 2.5 liters of hemo-peritoneum, a ruptured aneurysmal sac in proximal of the left branch of proper hepatic artery with surrounding clots and intact liver parenchyma. Ligation in the proximal and distal parts of artery was done (). |
pmc-6637807-2 | The second patient was an 11-year-old boy with history of falling and blunt trauma to the flank and formation of liver hematoma. Three weeks later, he was referred to emergency department with the chief complaint of abdominal pain. After proving pseudo-HAA in contrast-enhanced computed tomography (CECT) scan, the patient was referred for catheter base angiography and treated with coiled embolization ().
The patient was a 66-year-old male with epigastric pain and nausea for 10 days. Past medical history revealed smoking with hypertension. CT angiography showed saccular aneurysm in proper hepatic artery. The patient underwent surgical repair. A 70 × 70 mm aneurysmal lesion at the origin of proper hepatic artery was found in lesser sac and gastro-hepatic ligament. After attaining control of proper hepatic artery, end-to-end bypass graft was done in hepatic artery using saphenous vein. After 12th post-operative day hospitalization, the patient referred to the hospital a week later with severe abdominal pain and vomiting. In CT scan, there was evidence of acute necrotizing pancreatitis, along with collection in liver. The patient was successfully managed with conservative treatment and discharged after two weeks without major complication ().
The patient was a 4-year-old boy with history of blunt trauma to his right flank. One month later, the patient admitted with melena, hematemesis, and epigastric pain. Color Doppler ultrasonography, CECT scan, and magnetic resonance imaging (MRI) showed HAA. The patient was treated successfully with coiled embolization ().
The patient was a 24-year-old male with history of gunshot traumatization and surgery due to hepatic artery aneurysm and liver hematoma. He was referred due to re-bleeding and large liver-infected hematoma. The patient underwent successful coil embolization similar to case 2. |
pmc-6637810-1 | A 33-year-old man presented with 8-month history of intermittent cerebrospinal fluid (CSF) leakage from his nostril following removal of fringe body from his orbital cavity. In medical history, the patient had eye trauma, mild asthma, and was under treatment of glaucoma with Timolol eye drop. He was admitted to the operating room for trans-sphenoid endoscopic surgery. His preoperative blood pressure measured via noninvasive method was 135/80 mmHg and he had a pulse rate of 90/minute with normal respiratory rate and O2Saturation of 100% with oxygen.
Laboratory findings showed fasting blood sugar (FBS): 93 mg/dl, blood urea nitrogen (BUN): 20 mg/dl, creatinine: 0.8 mg/dl, sodium: 138 mEq/L, hemoglobin: 13.3 g/ dl, platelet: 260000 /microliter, and international normalized ratio (INR): 1. His imaging result was normal, and normal cardiovascular risk for operation was reported in pre-operation cardiology consultation.
He underwent cardiac and invasive blood pressure (IBP) monitoring, pulse oximetry, capnometry, and intake/output checking. Anesthesia was induced via Fentanyl (200 micg), Midazolam (2 mg), Lidocaine (80 mg), Propofol (200 mg), Cisatracuriom (18 mg), and then orotracheal intubation was done.
After positioning of the patient, 0.5 cc of fluorescein 5% was mixed with 10 cc of the patient’s CSF and then re-injected via a lumbar puncture at the level of L4-L5 spinal column. After 10 minutes, the patient’s blood pressure dropped unexpectedly (IBP: 87/50 mmHg), and his pulse rate rose to 124/minutes and O2 saturation dropped to 85%. Shortly after this event, some pink foamy secretions appeared in the transparent circuiting tube of the anesthesia machine and suction bottle cavity and urine color changed to shiny green ().
Patient underwent immediate supportive vital managements including change of ventilator set up, medical administration of supportive drugs, and close vital signs and hemodynamic monitoring.
The surgeon decided to postpone the surgery. The patient was directly transferred to intensive care unit (ICU) and ventilated with positive pressure mode. After one day, the intensivist decided to wean him from mechanical ventilation and he was extubated successfully. Finally, the patient was discharged from the hospital with good general condition after two days from his admission. |
pmc-6637955-1 | A 23 year old, bi-racial (Hispanic-Caucasian) male was admitted to an outside hospital (OSH) with complaints of jaundice, generalized weakness, and vomiting. On admission, he was noted to have a hemoglobin (Hgb) level of 3.7 mg/dl (Reference Range (RR) 14–18 mg/dl), pancytopenia, and hyperbilirubinemia (total bilirubin 18.9; RR 0.3–1.2 mg/dl). The patient was admitted to the Intensive Care Unit (ICU) and received 13 units of blood during his admission. An extensive workup, including the Human Immunodeficiency Virus (HIV), Parvovirus B19, Cytomegalovirus (CMV), Epstein-Barr virus (EBV), hepatitis panel, and bone marrow biopsy was unrevealing; however, he slowly improved and was discharged home 2 weeks after admission with a Hgb of 8.0 mg/dl. Two days later, he developed non-radiating chest pain, prompting presented to our hospital, at which time he was found to have a Hgb of 8.4 mg/dl. Importantly, 10 days prior to admission to the OSH ICU, the patient had completed a 14day course of amoxicillin for an infection and subsequent removal of an ingrown toenail. On presentation, the patient denied fevers, chills, rigors, dyspnea, weight-loss, and lymphadenopathy. Review of symptoms was positive for dysuria since placement and subsequent removal of a Foley catheter at the OSH, as well as a mild headache. He reported that he was in his usual state of good health until approximately 1 week after completing the course of amoxicillin, when he began feeling unwell. Two to three days prior to initial admission, he experienced non-bilious, non-bloody emesis and nausea with loose stools. On the morning of admission, his urine became dark and he appeared jaundiced, which prompted his parents to bring him to the OSH’s emergency room. His past medical history was notable for paranoid schizophrenia, for which he was being treated with clonazepam 0.5 mg po BID, quetiapine 25 mg po TID PRN, sertraline 200 mg QD, and ziprasidone 80 mg BID, all of which were discontinued on admission to the OSH. Past surgical history was unremarkable. The patient had no known allergies and denied illicit drug use, tobacco, and alcohol use. Further, the patient was sexually inactive. He had a family history remarkable for unexplained blood clots on his agnate grandmother’s side. A couple of years prior to presentation he had been stationed in Afghanistan without notable illness. On arrival to our medical unit, physical examination revealed a blood pressure of 125/75 mm Hg, a heart rate of 100 beats per minute (bpm), a respiration rate of 18 breaths per minute, and a temperature of 98.1°F. The patient was alert and oriented, but anxious in appearance. The head-eyes-ears-nose-throat (HEENT) exam revealed scleral icterus, and the cardiopulmonary exam was within normal limits, except for borderline tachycardia. Abdominal exam was notable for diffuse tenderness to deep palpation and splenomegaly without hepatomegaly. No focal deficits were observed on neurological exam, cranial nerves were intact, and no meningismus was appreciated.
Laboratory findings demonstrated pancytopenia with a low white blood cell (WBC) count of 2.3 thousand/cmm (RR 4.5–11.0 thousand/cmm) and neutrophilic predominance of 68% (RR 37–77%), thrombocytopenia with a platelet count of 105 thousand/cmm (RR 150–350 thousand/cmm), and a hemoglobin and hematocrit that were 8.2 mg/dl and 24%, respectively (). Absolute reticulocyte count was low at 0.0134 million/cmm (), with a relative value that was at the low end of normal at 0.4% (RR 0.4–1.9%). A peripheral blood smear was microcytic with central pallor, as shown in . Lymphocyte markers assessed by flow cytometry showed no evidence of clonal lymphoid expansion. Erythropoietin was high, osmotic fragility testing and direct red blood cell antibody assay were negative (). A complete biochemistry panel, including cardiac markers (Troponin, creatine kinasemuscle/brain (CK-MB), creatine kinase (CK)), was unremarkable. Urinalysis (UA) was revealing for 1+ protein, elevated urobilinogen (4.0 mg/dl; RR 0.1–1.0 mg/dl), 2+ leukocyte esterase and positive nitrites; urine microscopy showed 29 RBC/high-powered field (hpf) and 185 WBC/hpf. Urine drug screen was negative. Liver function tests revealed an elevated aspartate aminotransferase (AST)/ serum glutamic oxaloacetic transaminase (SGOT) and alanine aminotransferase (ALT)/ serum glutamate-pyruvate transaminase (SGPT), with alkaline phosphatase within normal limits (). International normalized ratio (INR) was 1.21 and total bilirubin was 4.05 mg/dl (RR 0.31.2 mg/dl) with a direct bilirubin of 1.1 mg/dl (RR 0.00–0.34 mg/dl), as shown in and . Lactate dehydrogenase (LDH) resulted 1080 U/L (RR 135–225 U/L); D dimer was 300; total protein was within normal limits, and C-reactive protein (CRP) was unremarkable (). Both ferritin and fibrinogen were elevated at 911 ng/ml (RR 10–385 ng/ml) and 426 mg/dl (RR 198–450 mg/dl), respectively ( and ).
A chest radiograph proved to be normal and abdominal CT showed marked splenomegaly (not shown). CD 4 counts and percentages were normal. Cold agglutinins were negative, as was a COOMBS test. Donnath Landsteiner test was also negative (). The infectious workup was grossly negative (). The only source of infection found was the patient’s UA, as above, revealing for a urinary tract infection (UTI) that grew Klebsiella pneumoniae, which was attributed to an indwelling Foley catheter during his 7-day stay at the OSH ICU. Rheumatology tests were also negative, including Antineutrophil Cytoplasmic Antibodies (ANCA) and Rheumatoid factor (). Subsequently, a bone marrow biopsy was performed, showing a hypercellular marrow (90%) with remarkable erythroid hyperplasia and left shift, mild megakaryocytic hyperplasia without dysplasia or atypia, with no atypical cell infiltrate identified. A repeat reticulocyte count, 11 days after admission, resulted as an absolute value of 0.0261 mill/cmm (RR 0.026–0.095 mill/cmm) and a relative value of 0.9% (RR 0.4–1.9%). G6PD testing by enzymatic methods used for definitive diagnosis [] yielded positive results for deficiency. The patient’s transfusion requirements diminished, as he only required an additional 2 units of packed red blood cells and was treated for his UTI with ciprofloxacin.
The patient was discharged on a steroid taper and folic acid. Two months after discharge, hemoglobin normalized to 15.5 g/dl. He continued to improve steadily at home and three months after initial symptoms, he fully recovered and returned to his prior state of health and activity level. He has not had any further hemolytic events, however, he received follow-up in our Hematology/Oncology clinic. |
pmc-6638604-1 | A 69-year-old female was referred to the emergency department (ED) by her primary care physician with right lower quadrant abdominal pain for 2 days. She had nausea but no vomiting, fever, or diarrhea. She reported a history of appendectomy 27 years ago. Her past medical history included rheumatic heart disease with prolapsed mitral valve and hypothyroidism.
Physical examination revealed a temperature of 35.8 °C (96.4 °F), with otherwise stable vital signs. She had appendectomy scar and tenderness in the right lower quadrant without guarding or rebound tenderness. Her white blood cell count was 7.4 × 109/L with neutrophils 62.5%.
PoCUS demonstrated a non-compressible blind-ended tubular structure measuring 9.4 mm in diameter (Fig. a) connecting to cecum, surrounding with small amount of free fluid and fat stranding (Fig. b). Subsequent computed tomography (CT) scan of the abdomen and pelvis confirmed these findings (Fig. ). Video link: .
The patient was admitted and administered intravenous piperacillin–tazobactam. Given her history of rheumatic heart disease, non-operative management was chosen. One day after admission, her clinical examination significantly improved with no peritoneal signs. She was discharged with a 10-day course of oral levaquin and metronidazole. She had a follow-up CT scan 2 months later which was unremarkable. |
pmc-6638605-1 | A 70-year-old female presented to our ED with right upper quadrant abdominal pain of 1-day duration described as sharp in nature, which started suddenly and became constant over time. No nausea, vomiting, melena, hematochezia or hematemesis were reported. The patient’s past medical history was irrelevant; she also had no family history of inflammatory bowel disease or gastrointestinal malignancies. Physical examination was unremarkable, apart from right superior quadrant tenderness with localised guarding. Vital parameters were within the normal range. Blood tests results showed elevated white blood cell count (14,500 per microlitre with 79.2% neutrophils), while electrolytes and pancreas function were within the limits.
In the broad spectrum of differential diagnosis, gallbladder disease, appendicitis, peptic disease and pancreatitis were considered. According to symptom presentation and hospital policy, an abdominal ultrasound was initially performed. This showed normal appearance of the abdominal solid structures (Fig. a), apart from a marked segmental large bowel-wall thickening on the right hypochondrium surrounded by hyperechoic, non-compressible fatty tissue and a small fluid collection. According to these findings, the clinical suspicion was either inflammatory bowel disease or diverticulitis. The patient underwent a Computed Tomography (CT) which confirmed wall thickening of the descending and sigmoid colon, diverticular outpouching and stranding of perivisceral fat complicated with localised perforation. Due to the patient’s inborn anatomical variant of redundancies of large intestine, also known as dolichocolon condition, her sigmoid colon was displaced on the right-side of the abdomen (Fig. a, b). The patient was referred to the surgical team and admitted to the ward for intravenous fluid therapy and antibiotics. She was discharged after a week with clinical follow-up. |
pmc-6638606-1 | An 85 year-old-male patient with a history of congestive heart failure and atrial fibrillation under anticoagulation with enoxaparin was admitted to the intensive care unit (ICU) presenting with shock and abdominal pain. Extremely pale skin and mucous membranes were noted, along with an extensive ecchymosis occupying the left hemiabdomen (i.e., Grey Turner´s sign). The abdominal mass bulged on the left flank and was soft, painful and non-pulsating on palpation. Blood chemistry highlighted anemia (hemoglobin 5.7 g/dl), metabolic acidosis and elevation of creatinine and BUN; coagulation tests were normal. A POCUS abdominal ultrasound of the left flank (Fig. and Additional file : Video 1) showed a large complex avascular cystic mass which extended to the pelvis, with echogenic particulate mobile contents in dependent areas, and multiple internal septations. Perisplenic free peritoneal fluid was also noted. No other anomalies were found. Given the described ultrasound features and in the context of this clinical presentation together with anemia, this mass was interpreted as a hematoma. However, because of its size, it could not be concluded with certainty whether it was an extra-abdominal (e.g., abdominal wall) or an intraabdominal structure. Thus, an abdominopelvic CT with intravenous contrast was ordered. The CT showed a large heterogeneous fluid collection along the left rectus sheath which extended to the subperitoneal space (Fig. ), showing signs of active contrast extravasation, suggestive of active bleeding (Fig. a). With the diagnosis of a large RSH complicated with hemodynamic instability, suspicion of abdominal compartment syndrome, and signs of active bleeding on the CT, the patient was immediately transferred to the operating room for surgical exploration. On laparotomy, 3 L of fresh blood mixed with clots was evacuated from the abdominal wall and subperitoneal space. The culprit vessel was identified as a branch of the left inferior epigastric artery, which was then successfully ligated. The patient´s hemodynamic parameters markedly improved after surgery and blood transfusions, and he was sent back to the ICU for further care, where he developed acute renal failure requiring hemodialysis. During the follow-up period, POCUS did not show signs of rebleeding within the rectus sheath. The patient died in the general ward after a prolonged length of stay in the ICU. The main complications observed were renal failure requiring hemodialysis as mentioned before, and nosocomial infections. |
pmc-6638608-1 | A 27-year-old male involved in a motor vehicle accident was brought to Emergency Department room with respiratory distress. He was intubated upon arrival due to low Glasgow Coma Scale (GCS) with extensive maxillofacial injuries. Thoracic examination showed reduced air entry at right chest wall region with palpable crepitus on his right neck region due to subcutaneous emphysema from the neck to the anterior chest wall. The heart sound was barely audible. A curvilinear transducer on the right second intercostal ribs shows the absence of sliding signs, suggestive of right pneumothorax. A FAST scan was performed, but, on subxiphoid view of the heart, only the right ventricle is seen during diastole. Part of the cardiac image was obscured by A-lines (Fig. ). This raised a suspicion of pneumopericardium given the subxiphoid window was showing partly A-lines and the other half of anatomy partially obscured. We proceeded with focused cardiac ultrasound, and only A-lines were visible on parasternal long axis (PLAX), parasternal short axis (PSAX), and apical four chamber (A4C) views.
The patient underwent head and chest CT scan that confirmed the diagnosis of Le Fort II facial bone injury, right pneumothorax, and right pulmonary contusion with pneumopericardium (Fig. ). The pneumopericardium was treated conservatively, but other injuries were treated accordingly. |
pmc-6638612-1 | A 20-year-old woman was admitted to the emergency department with a severe asthma attack. She had no relevant medical history except for minor asthma episodes successfully treated with short inhaled salbutamol cycles.
After treatment with bronchodilators and steroids, she was admitted to the intensive care unit (ICU) due to worsening clinical signs including a PaO2/FIO2 = 109 mmHg. During ICU stay, she underwent high flow nasal cannula ventilation with clinical improvement; however, SpO2 value while spontaneously breathing room air remained low for several days (PaO2/FIO2 < 200 mmHg). With the suspicion of pulmonary embolism, we performed a CT pulmonary angiography that did not show any pathological finding; therefore, we oriented our investigation to examine the presence of an intracardiac shunt.
A transthoracic microbubbles contrast echocardiographic evaluation showed a PFO, with a massive shunt following Valsalva’s maneuver (Fig. . See also Additional file ). Moreover, during TTE examination, no signs of acute right ventricular disfunction were highlighted, and estimating arterial pulmonary pressure was impossible due to the absence of tricuspidalic regurgitation. Normal left ventricular ejection fraction was observed.
According to a positive clinical evolution in the ICU and an improvement of the patient’s respiratory conditions, in agreement with cardiologists, we opted for a conservative approach and linked the patient into a follow-up program. After 6 months during follow-up, a control echocardiography was performed and it confirmed the persistence of PFO but with a significant reduction in its size.
Given the incidental PFO finding without major symptoms and the reduction in its size, cardiologists decided not to propose it for closure to prescribe neither anticoagulant nor antiplatelet therapy. |
pmc-6638931-1 | An 85-year-old man with visual impairment and no psychiatric history presented to the neurological department of the University Hospital Centre of Liège (Belgium). He reported his five-year history of increasing frequency of visual hallucinations and was able to give a detailed and coherent description of his hallucinatory experiences. The patient suffered from retinitis pigmentosa, a degenerative eye disease causing severe vision impairment due to progressive degeneration of the rod photoreceptors in the retina []. At the age of 3 years, he began experiencing progressive and gradual loss of vision. During his adolescence, his peripheral field of vision progressively narrowed (progressive development of "tunnel vision") and he developed hemeralopia, i.e. night vision deterioration by the abolition of rod cells. At the age of 70 he also lost central vision which resulted in complete blindness at the age of 80. The patient reported a positive family history of CBS.
This man started experiencing visual hallucinations at the age of 80. Visual hallucinations gradually became more frequent and occurred many times during the day. At the time of the visit, he repeatedly described seeing bilateral visual hallucinations with vivid details. The hallucinations reported by this patient were well formed, ranging from simple flashes or colored background to more complex with the appearance of common faces, objects and bodies of people, or landscapes. The hallucinations varied in size and color, and were binocular, covering the entire visual field. However, animations (i.e. scenes in motion) were only present in the right visual field. The visual hallucinations were always perceived as pleasant; they generally occurred with the eyes open and did not disappear when closing the eyes and were never accompanied by abnormal perception in any other sensory modality. The patient was fully aware of their unreal nature but he was not able to consciously control their occurrence or content. Based on his clinical history and the diagnostic exams he underwent, a diagnosis of CBS was made by the neurologist. Indeed, the patient fulfilled the four diagnostic criteria for CBS: (1) hallucinations must be complex, repetitive, and persistent; (2) awareness that the hallucinations are not real; (3) no additional delusions; and (4) absence of additional hallucinations in the other senses [].
The patient underwent a neuropsychological examination, including the Mattis Dementia Rating Scale [] and the version for the blind (MoCA-BLIND) [] of the Montreal Cognitive Assessment (MoCA) []. Considering his visual impairments, all these cognitive test materials were administered verbally, thereby omitting all vision-specific items.
The patient underwent an ophthalmologic examination with, notably, measurements of visual acuity and visual evoked potentials. |
pmc-6639063-1 | A 71-year-old female with a past medical history of bilateral ductal carcinoma in situ, hypertension, and recent bilateral knee replacement presented to the emergency department with worsening headaches, confusion, photophobia, fevers and fatigue. Initial vital signs were temperature of 38.4°C, heart rate of 123 beats/min, blood pressure 164/97 mmHg and oxygen saturation at 98% on room air. Physical exam revealed lethargy, irritability and nuchal rigidity. Workup demonstrated WBC of 11,400/μL, Hgb of 10.8 g/dl, platelets 347,000/μL. Head CT was unremarkable. Lumbar puncture showed elevated nucleated cells with neutrophilic predominance. She was started on empiric therapy with vancomycin, ceftriaxone, trimethoprim-sulfamethoxazole (TMP-SMX, or bactrim) to cover for Listeria (penicillin was listed as an allergy) and acyclovir. Cerebrospinal fluid (CSF), herpes simplex virus (HSV), polymerase chain reaction (PCR) and culture returned negative, thus vancomycin, acyclovir and bactrim were discontinued after three days. Ceftriaxone was continued to complete a seven-day course. At this point, patient’s presenting symptomatology was resolving.
On hospital day six, platelets dropped to 1,000/μL. With 1 unit of platelet transfusion, platelets increased to 73,000/μL, but down trended to zero. Figure illustrates the platelet count over the course of the patient's hospital stay. A peripheral blood smear showed zero platelets per high power field, with no noted schistocytes or platelet clumping. Immature platelet fraction was 30.7%, indicative of peripheral destruction with appropriate marrow response. Patient’s hemoglobin remained stable during her hospital course with no clinical evidence of bleeding. The patient received prophylactic heparin during hospitalization with a 4T score of 3, suggesting a low probability of heparin-induced thrombocytopenia. Vitamin B12 and copper were within normal limits. Given the timing and severity of thrombocytopenia after being on three antibiotics commonly associated (bactrim, vancomycin and ceftriaxone), DITP was suspected. Ceftriaxone was discontinued and she was started on dexamethasone 40 mg/day for four days. Platelets began to uptrend as can be seen in Figure . Platelet count at the time of discharge was 155,000/μL and 346,000/μL at a three-week follow-up. Post discharge, serum antibody testing returned positive for ceftriaxone-dependent platelet reactive IgG antibodies and negative for vancomycin and bactrim, further supporting the diagnosis of DITP secondary to ceftriaxone. |
pmc-6639064-1 | A previously healthy 16-year-old male with no known co-morbid presents to tertiary care hospital with intense pain, stiffness, and fasciculations in bilateral lower extremities for over a month. His pain started gradually and got progressively continuous in a matter of days. It was burning in nature, non-radiating, moderate in intensity which incremented as the patient walked over a smaller distance. It wasn’t relieved at rest or with any of the prescribed pain medications he took. He also had stiffness with the pain, more-so below knees that at thighs. Additionally, he complained of pain on touch and had a sensitivity to cold which aggravated his discomfort level. The discomfort was described as a wavy sensation in extremities. The patient also noted episodic twitching all over the body especially in the calf, chest and around the corners of his mouth for over a month, which worsened on movement. There was no urinary or fecal incontinence, fits or speech problems, blurry vision or visual acuity changes. He had no significant past medical, surgical, or family history of any known illness. Sleep was disturbed because of discomfort and pain in calf muscles and nocturia.
On admission, he was restless and in significant discomfort but alert, and oriented with no mood alterations. The patient was afebrile with a pulse of 114 beats per minute (BPM), BP of 155/100 mmHg, and respiratory rate of 20/minute. Power was normal in upper extremities and lower extremities above the knee but four out of five below knee bilaterally. Reflexes were active in grade in brachioradialis, biceps, triceps, and ankle but diminished at the knee. Plantar reflex was bilaterally mute. The bulk was bilaterally symmetrical and tone, normal on assessment. He also reported decreased pin-prick sensation in toes and fingers bilaterally in both lower extremities but had intact joint position sense. Cerebellar signs of co-ordination and cranial nerves two till twelve were intact with no observed nystagmus or tremors. The patient had an antalgic gait. Desquamating, blanchable erythema in both feet was noted. There were no signs of jaundice, edema, visceromegaly, or lymphadenopathy. Abdominal, respiratory, and cardiovascular were normal on physical examination.
The complete blood count (CBC) showed total leukocyte count (TLC) of 4.36 x 109/L, with differential showing neutrophil percentage being 85.6% and lymphocyte being 10%, platelet count of 447 x 109/L, an erythrocyte sedimentation rate (ESR) of 12 and C-reactive protein (CRP) of 0.7. Prothrombin time (PT) and activated partial thromboplastin time (APTT) were 9.7 and 20.2 seconds, respectively. The glycosylated hemoglobin (HbA1c) was 4.8%. Assay for anti-neuronal antibodies that is anti-voltage-gated potassium antibodies was sent and turned out to be positive. Immunology panel including anti-rheumatoid factor, anti-smooth muscle antibodies (ASMA), anti-mitochondrial antibodies (AMA), anti-liver kidney microsomal antibodies, anti-cyclic citrullinated peptides (anti-CCP), anti-nuclear antibody (ANA), anti-cytoplasmic antibodies (ANCA), anti-Ro, anti- La, anti-acetylcholine receptor antibody (anti-AchR), anti-double-stranded DNA antibody (anti-dsDNA), and complement and cryoglobulin levels turned out to be negative. Electrolytes, liver function, and thyroid function test were normal. Serologic tests for Hepatitis B surface antigen (HBsAg), and Hepatitis C antibody (anti-HCV) were insignificant. Serum creatine phosphokinase (CPK) levels and aldolase levels were marginally elevated.
Concentric single fiber electromyography (EMG) was performed, which showed neuromyotonic discharges that were irregular and continuous with triplets and multiplets having high intra-burst frequencies of 30 to 250 Hertz (Hz) interposed between normal motor unit potentials (MUPs) of electrical silence and reduced recruitment. Nerve conduction study (NCS) test was done, which was significant for showing mild neuropathy.
Computed tomography (CT) chest and CT abdomen/pelvis, ultrasound (US) abdomen, magnetic resonance imaging (MRI) of the brain and spine were done and were negative for any tumoral growth.
He was followed initially on a cocktail regimen of phenytoin, gabapentin, tramadol, and prednisolone. As the discomfort level was significant, the patient was also put on sessions of immunoadsorption plasmapheresis, first consecutively for six weeks and then intermittently with the maintenance of phenytoin with remission of disease in eleven month period. Blood pressure elevations were constantly managed in the background and appropriate investigations involving plasma metanephrines, cortisol levels, aldosterone and renin levels, Echocardiography, and ultrasound renal artery Doppler was done but turned out to be insignificant suggesting autonomic disturbance. |
pmc-6639065-1 | A 65-year-old female presented to the emergency department with complaints of abdominal pain, nausea, and vomiting of three days duration. In the week prior to admission, she had a poor appetite and a 4 lb weight loss. Previous medical history was significant for gastroesophageal reflux disease (GERD), hypertension, peripheral vascular disease, and chronic constipation. Social history was notable for cigarette smoking for several decades. The patient's abdominal pain was predominantly in the right lower quadrant (RLQ). One year prior, she had undergone esophagogastroduodenoscopy (EGD) for further evaluation of abdominal pain; it revealed significant inflammation in the stomach and was labeled as “hemorrhagic gastritis.” Gastric biopsies showed no evidence of infection or malignancy. At that time, colonoscopy to evaluate her abdominal pain and constipation revealed small areas of ulceration in the cecum that on biopsy revealed a fibrinous exudate without necrosis. Random colon biopsies from normal-appearing mucosa were unremarkable. There was no histologic evidence or history of inflammatory bowel disease (IBD). At the time of this most recent hospitalization, her vital signs were within normal limits. Physical exam disclosed a slender and frail-appearing woman in no distress. Abdominal examination revealed a mildly tense abdomen with exquisite tenderness to even gentle palpation in the RLQ. There were no peritoneal signs. Routine laboratory tests revealed leukocytosis with white blood cell (WBC) 19.4x10^3/uL and normal hemoglobin and platelet counts. The basic metabolic panel was normal except for a potassium level of 2.5 mEq/L. The liver chemistry panel, lipase, and troponins were within normal limits. Lactic acid was minimally raised at 2.1 mmol/L and urinalysis revealed no indicators of infection.
Computed tomography (CT) abdomen and pelvis, with intravenous (IV) contrast at the time of admission, disclosed a 2.9 cm infra-renal abdominal aortic aneurysm (AAA) with mural thrombus as well as high-grade stenosis of the left common iliac artery (LCIA). The celiac artery (CA), superior mesenteric artery (SMA), and superior mesenteric vein (SMV) were reported to be patent. On Day 2 of admission, a right upper quadrant ultrasound (RUQ US) revealed a small amount of gallbladder sludge but no evidence of cholecystitis or choledocholithiasis. The patient was empirically started on metronidazole and ciprofloxacin for possible infectious and/or ischemic colitis. On Day 2 of admission, she developed rectal bleeding and her WBC count increased to 22.3 x10^3/uL. On Day 3 of admission, a repeat CT abdomen and pelvis with IV contrast was unremarkable. She underwent EGD and colonoscopy on Day 5 of admission. The EGD revealed scattered, atypical appearing ulcers in the fundus, in the body along the lesser curvature, and in the antrum (Figure ). Slight oozing of blood was seen from several of the ulcers. The esophagus was normal appearing, and the duodenum appeared normal to the second portion. Biopsies were obtained from several ulcerated areas of the fundus and antrum. Histology was notable for marked severe inflammatory exudates suggestive of ischemia. The pathological evaluation did not reveal any evidence of malignancy or Helicobacter pylori infection. Colonoscopy revealed a diffusely ulcerated cecum producing a mass-like appearance and areas of mucosal hemorrhaging were observed (Figure ).
Biopsies of the cecum revealed inflammatory exudates as well as significant gangrenous necrosis consistent with ischemia. The colon was otherwise normal aside from mild sigmoid diverticulosis. Also obtained on Day 5 of admission was a duplex US of the abdomen, which was remarkable for a peak systolic velocity of 543 cm/s at the origin of the celiac artery, indicating high-grade stenosis. A peak systolic velocity of 805 cm/s at the origin of the SMA was seen, also indicating high-grade stenosis. The origin of the IMA was occluded but evidence of collateral vessel formation was identified distally. The peak systolic velocity at non-occluded portions of the IMA was 52 cm/s. Two days later, the patient underwent a mesenteric angiogram and stenting of the CA and SMA. Dual antiplatelet therapy with aspirin and clopidogrel was initiated and the patient was also started on a statin. On post-procedure Day 1, the patient reported an improvement in her abdominal pain. On post-procedure Day 2, she had a recurrence of her RLQ abdominal pain and developed tachycardia, worsening leukocytosis, and an acute kidney injury. CT abdomen and pelvis without contrast revealed the development of moderate ascites but did not show any evidence of acute bowel injury. On hospital Day 9, the patient underwent exploratory laparotomy. Upon opening the abdomen, 1.5 liters of ascitic fluid was drained. The right colon and cecum were adherent to the anterior pelvic sidewall. Significant swelling of the cecum was seen and a contained perforation was found. The patient underwent a right hemicolectomy with primary anastomosis. The patient tolerated the procedure well and had no complications. The patient was discharged in good condition on hospital Day 19. |
pmc-6639066-1 | A 59-year-old male presented with a history of untreated Hepatitis C and 50 pack-year smoking. He presented to the emergency department with black tarry loose bowel movements that started five days before the presentation. The melena was associated with cramping generalized abdominal pain and diarrhea. On review of systems, he complained of palpitation but denied any chest pain, shortness of breath, or lower limb swelling. He also mentioned that he noticed more than 20 pounds of weight loss in the last three months. Physical examination was remarkable for tachycardia with a regular rhythm, normal heart sounds, and no murmurs. On abdominal examination, he had epigastric tenderness on palpation, and he had non-tender hepatomegaly. Signs of liver cirrhosis were found on examination, such as spider angioma, gynecomastia, and mild palmar erythema.
Due to concerns of variceal bleeding, two large-bore intravenous catheters were inserted, a cross-match was done, and two units of packed red blood cell units were prepared. The patient was immediately started on octreotide and pantoprazole infusions with prophylactic ceftriaxone, and he was admitted directly to the intensive care unit. Gastroenterology team was consulted, and they performed an urgent esophagogastroduodenoscopy (EGD) that showed grade 3 esophageal varices with findings suggestive of recent bleeding associated with a large amount of blood in the gastric body that required banding (Figures -).
Upon further evaluation, the patient had a computed tomography (CT) of the abdomen and pelvis, which revealed multiple liver masses with an intraluminal IVC mass extending from the hepatic vein into the right atrium. This mass was thought to be a tumor thrombus that is extending up to the right atrium. Subsequently, a CT scan of the chest was done, and it confirmed the presence of a tumor thrombus in the IVC extending to the right atrium (Figures -).
On further workup, his alpha-fetoprotein level was 53,320 ng/ml. Magnetic resonance imaging (MRI) of the abdomen confirmed the diagnosis of HCC. Oncology team evaluated the patient, and they determined that the patient was not a candidate for surgical or ablative therapies. The patient’s wishes were to avoid any invasive intervention for his thrombus and cancer. Therefore, he was discharged with a plan to receive palliative treatment with sorafenib as an outpatient. After two months of palliative treatment, the patient condition deteriorated, and he decided to switch to hospice, and he passed shortly after that. |
pmc-6639067-1 | A 48-year-old Caucasian male with a past medical history of hypertension presented to the emergency department (ED) with epigastric abdominal pain, nausea, and vomiting. Vitals were stable. Lipase was elevated to over 600, alanine transaminase was 46, and aspartate transaminase was 41. All other labs were within normal limits. An abdominal computed tomography (CT) with contrast was done immediately, which demonstrated edema of the pancreas and peripancreatic collection of fluid, indicating acute pancreatitis (Figure ).
Per-oral (PO) pain medication was initiated, as there was difficulty in achieving intravenous (IV) access, so the patient was unable to receive IV fluids. Oral rehydration was encouraged. Due to the intractable uncontrolled pain, the patient was transferred. Upon transfer, the IV line was secured and fluids were started. However, due to the persistence of epigastric pain, a repeat CT abdomen without contrast was performed to ascertain whether the pancreatitis was worsening or if other differentials should be considered. On this CT, thrombosis of the hepatic vein and splenic vein was evident (Figure ).
The patient was started on a heparin drip while pancreatitis symptoms eventually dissipated with supportive treatment. The patient was transitioned to PO blood thinners and discharged with follow-up. |
pmc-6639085-1 | A 42-year-old African American female presented to dermatology clinic for evaluation of a nonhealing painful sore on her left calf (Figure ). The patient had a history of hypertension, stroke, obesity, seizures, anemia, substance abuse, gout, pheochromocytoma, and ESRD requiring dialysis for the past 10 years. Three months prior, she had received a cadaveric donor kidney and had stable graft function since (creatinine 1-1.5). Before transplantation, her creatinine and phosphorus had risen to 11.5 and 9.0, respectively. Immunosuppressive therapy consisted of prednisone, sirolimus, tacrolimus, and mycophenolate.
Physical examination revealed a violaceous to black retiform plaque that was painful with palpation. The lesion was biopsied with a 4 mm punch in office, however, before the results were available, the patient presented to the emergency room and was admitted to the hospital due to uncontrollable lower extremity pain from the ulcer. Despite initial biopsies that were suggestive of nodular vasculitis or erythema nodosum, there was strong clinical suspicion of calciphylaxis at both the clinic visit and the hospitalization, so treatment with sodium thiosulfate was started, and collagenase ointment was used for wound care.
Over the next three months, the patient’s ulcer progressed (Figure ) and additional ulcers appeared on her hand and both feet. She was hospitalized repeatedly for her ulcers and on her first re-hospitalization, another skin biopsy was performed which showed vascular calcification and congestion in the dermal and subcuticular vessels which was consistent with calciphylaxis (Figure ). The patient sporadically utilized the wound care clinic and received intermittent sodium thiosulfate injections over the course of a year before self-discontinuing. At that time, all other wounds had healed and only the ulcer on her left lower leg remained, which closed six months later. |
pmc-6639086-1 | A 55-year-old male with a history of alcohol-use disorder presented with altered mental status and hyperthermia. The initial examination of the patient in the emergency department (ED) established hyperthermia (107.4°F), tachycardia (158 bpm), tachypnea (28/min), altered consciousness, generalized rigidity, tremors, diaphoresis, hyperactive bowel sounds, normal reflexes, clear lungs, acute respiratory alkalosis, anion gap metabolic acidosis with elevated lactic acid of 4.6 mmol/L (normal range 0.5-2.0 mmol/L), ethanol level of 30 mg/dL (normal <10 mg/dL), elevated creatinine kinase (CK) of 401 U/L (normal range 55-170 U/L) with myoglobinuria of 5060 mcg/L (normal <28 mcg/L), hyponatremia of 128 mmol/L (normal 136-146 mmol/L), hypomagnesemia of 0.6 mg/dL (normal 1.7-2.2 mg/dL), hypophosphatemia of 1.2 mg/dL (normal 2.5-4.5 mg/dL), elevated liver enzymes (aspartate aminotransferase (AST) 356 Int U/L > alanine aminotransferase (ALT) 98 Int U/L), normal leukocyte count of 9.8 thous/mm3, negative urine toxicology screen, and normal ammonia level of 15 mcmol/L (normal 9-33 mcmol/L). The patient was admitted to the intensive care unit (ICU) for the management of neuroleptic malignant syndrome based on his presentation and laboratory values. On further investigation, his computed tomography (CT) head was negative, chest X-ray was normal, and blood culture was negative. There was no history of any medication or drug intake as well. On further evaluation, it was found that the patient is a heavy alcohol user, with his last drink two days ago and his previous history of alcohol withdrawal had almost a similar presentation. His diagnosis was subsequently changed to a hyperadrenergic surge secondary to alcohol withdrawal instead of neuroleptic malignant syndrome. The patient was managed accordingly with benzodiazepines. His creatine kinase (CK) initially peaked to 1268 Int U/L on Day 2 and then down-trended to the normal level with hydration, along with a normalization of his serum electrolytes. The patient was provided counseling regarding abstinence from alcohol intake at the time of discharge. |
pmc-6639656-1 | A 73-year-old male, hospitalized at our department of Surgery, with a story of chronic obstruction pulmonary disease, hypertension, and end-stage renal disease, presents in week before intermittent episodes of melena. There was no history of acid peptic disease, non-steroid anti-inflammatory drugs intake, chronic liver disease, or antiplatelet or anticoagulant drugs. He arrived at emergency room with hypotension, severe pallor and tachycardia, and an important hematemesis. His laboratory exams were: hemoglobin 5.5 g/dL, Hematocrit 22%, Other hematological and biochemical investigations were within normal limits. After resuscitation therapy with fluid, plasma and blood infusion, he underwent an esophagogastroduodenoscopy (EGDS) that revealed an important actively bleeding in the duodenal bulb. After rinsing and aspiration, it is identified the source of bleeding, which was a pulsatile lesion of a few millimeters which emerged the mucosa, with no signs of local inflammation, or peptic lesions like. We performed an epinephrine injection and electrocautery, but the bleeding was not controlled. Therefore, we used the hemoclips, but the important bleeding did not permit the control of hemostasis. Due to hemodynamic instability, it was not indicated to perform transarterial embolization.
Therefore, the patient was taken to the operating room and emergency laparotomy was performed (D.G.). After mobilization of pancreatoduodenal block, we performed a longitudinal duodenotomy, we found in the duodenal bulb, large pulsatile arteriole, that rises of mucosal, and it opened in the intestinal lumen. The rest the mucosa of the duodenum was normal explored. The characteristics of the lesion were suggestive of duodenal ulcer of Dieulafoy (). Hemostasis was controlled with vessel ligation, and a resection was not necessary. They are needed other infusions of blood after surgery 48 h after surgery, hemoglobin was 10.2, hematocrit was 29%. He patient had no bleeding late, or complications in the postoperative period. He was discharged 8 days after surgery. |
pmc-6639680-1 | A 65-year-old diabetic male patient presented with infected nonunion of a right femur fracture with a draining sinus. The patient had disabling advanced left knee osteoarthrosis. Conservative treatment was unsuccessful, so left total knee arthroplasty was performed in September 2014 (). |
pmc-6639680-2 | A 65-year-old diabetic male patient, who underwent left total knee arthroplasty in 2010 outside of our hospital, suffered early periprosthetic infection and was treated with long-term antibiotic suppression. In 2011, the patient sustained a traumatic ipsilateral femur neck and periprosthetic knee fracture. He underwent uncemented hip bipolar hemiarthroplasty, and open reduction and internal fixation of the distal femur outside our hospital.
In March 2016, the patient presented with a flare-up of the left knee infection, X-ray images revealed loosening of the prosthesis. Bone scintigraphy indicated that infection was localized to the knee prosthesis and did not involve the hip prosthesis. Knee arthrodesis was performed (). |
pmc-6639680-3 | A 73-year-old healthy man presented in 2015 complaining of disabling advanced left hip osteoarthrosis and an infected right total hip arthroplasty, which was performed and managed with antibiotic suppression outside our hospital. Due to the significantly limited patient's functional status, left total hip arthroplasty with a cemented stem and uncemented cup was performed in January 2016 (). A two-stage revision of the infected right hip was performed later. |
pmc-6639680-4 | A 55-year-old woman with a history of hypertension and rheumatoid arthritis underwent bilateral total knee replacement and right total hip replacement in 1994 outside our hospital. She presented with left knee discharging sinus which was treated with long-term culture-directed antibiotic therapy. During follow-up, the patient developed disabling right hip pain resulting from aseptic loosening of the total hip prosthesis (infection was ruled out by hip aspirate). Revision total hip arthroplasty was performed in May 2015 (). |
pmc-6639680-5 | A 76-year-old healthy woman with severe bilateral hip osteoarthrosis presented with a 6-month history of two-stage revision for infected right total hip prosthesis. No signs of active infection were apparent. In October 2009, she underwent left total hip arthroplasty at our hospital. During follow-up, the patient complained of pain and pus discharge from the right hip. The infection was treated by excision arthroplasty of the right hip. The left hip remained asymptomatic. |
pmc-6639680-6 | A 75-year-old healthy man underwent left dynamic hip screw (DHS) fixation for a hip fracture in October 2016 and right total knee replacement for primary osteoarthrosis in May 2017 outside of our hospital. He presented to our clinic in November 2017 complaining of left hip pain due to screw cut-out and erythema over the surgical site. The DHS was removed, cultures were taken, and total hip replacement carried out at the same setting. Intra-operative cultures were positive and postoperative IV antibiotics were continued for 6 weeks. The right knee remained asymptomatic (). |
pmc-6639918-1 | Our patient was an otherwise healthy 46-year-old Japanese woman who was referred to our institution because a cystic lesion in the pancreatic tail was detected by ultrasonography during a health examination. Her past medical history and family medical history were unremarkable. She was not taking any medication. She did not have a smoking habit; however, she occasionally drank alcohol. Blood tests revealed no abnormality. Levels of tumor markers were not elevated (Table ). She had no physical abnormalities at admission.
Abdominal ultrasonography (Fig. ) revealed a thick cystic lesion of the septum with a clearly defined boundary of approximately 40 mm in the pancreatic tail; however, computed tomography revealed no invasion into the stomach wall (Fig. ). Upper gastrointestinal endoscopy showed no obvious abnormality. Endoscopic ultrasonography (EUS) (Fig. ) revealed that the tumor appeared smooth with a marginal edge and was characterized by echo with high homogeneity, and the presence of viscous mucus was suspected. The preoperative diagnosis was mucinous cystic neoplasm, and surgery was performed accordingly.
During laparoscopic surgery, a soft tumor whose surface was smooth, like the serosa of the stomach wall, was found in the pancreatic tail (Fig. ). There was no continuity between the tumor and stomach wall, and no adhesion was observed. When the tumor was peeled off the pancreatic tail, we determined that the tumor did not arise from the pancreas. Peeling the tumor off the splenic hilum was difficult because the adhesions between the two were strong; therefore, we excised the spleen along with the tumor. The cyst was retrieved in a bag and transected 4 cm above the pubic bone. The operative time was 129 min, and the bleeding volume was 50 ml. The resected specimen was a smooth surface tumor, and it comprised mucus (Fig. ).
Histopathological study (Fig. ) revealed that the mucosa was covered with crypt epithelium, muscularis mucosae, intrinsic muscularis, and serosa and that the tumor’s wall had a structure very similar to that of the stomach wall. The mucosa was partially drained by intrinsic gastric glands, but most of them were denucleated. No pancreatic tissue was present, and the tumor had no continuity with the spleen. These findings indicated a diagnosis of GDC that had no continuity with the stomach wall.
The postoperative course was uneventful, and the patient was discharged 6 days after surgery.
The patient’s subsequent clinical course was unremarkable, and she visits our institution on an outpatient basis every 6 months. |
pmc-6639934-1 | A 25-year-old pregnant woman presented for her first prenatal appointment to the outpatient Department of Obstetrics at 22 week gestation. She was primigravida (G1P0) and reported an uneventful pregnancy prior to that point. She had not had any previous ultrasounds. Obstetric examination failed to detect a fetal heartbeat. Color Doppler ultrasound revealed nuchal lymphatic hygroma of about 62 × 99 × 103 mm and hydrops fetalis (Fig. a). Additionally, substantial pleural effusion and abdominal fluid of the fetus were also observed (Fig. b). Furthermore, the pregnancy was also complicated by oligohydramnios (AFV 11 mm). Upon inducing labor, a stillborn female baby was delivered at 22 weeks and 2 days of gestation, which weighed 600 g and the crown to heel measurement was 27 cm long (50th centile). Autopsy data showed a huge nuchal cystic hygroma measured at 10 × 10 × 6 cm (Fig. c, d), including 1000 ml of light red fluid, along with pathognomonic edema of the whole body. Partial, cutaneous syndactyly involving digits 2–5 of the fingers and toes were also observed on autopsy but, unfortunately, were not photographed clearly and radiographs were not performed. In addition, pathological examination revealed severe placental chorioamnionitis (Fig. f, g). Of note, no structural anomaly was found in the heart, lungs and kidneys. Chromosomal karyotype analysis of the fetal tissue showed monosomy X (45,X) (Fig. h). |
pmc-6639941-1 | A 46-year-old Korean man, a general office worker, was referred to our institution for the evaluation of congenital heart disease with severe pulmonary arterial hypertension (PAH). He was a social drinker and current tobacco smoker. He had a history of type 2 diabetes controlled with orally administered hypoglycemic agents (metformin, linagliptin, and glimepiride). A cardiac defect was suspected when he was young, but he was asymptomatic and his somatic growth was normal. Detailed assessment of his cardiac lesion was conducted when he was 30-years old. Even after the detection of cardiac defects, he missed routine follow-ups because he was asymptomatic. One month prior to admission, he suddenly developed intermittent chest pain at rest that continued for several minutes. At the primary hospital, he was diagnosed as having a congenital heart disease of VSD, tricuspid regurgitation, and severe PAH; he was transferred to our hospital for further evaluation and management. His general condition was quite good and there was no evidence of neurological or cardiovascular disorder except a pansystolic murmur. His vital signs were as follows: blood pressure of 129/79 mmHg, heart rate of 78 beats/minute, respiratory rate of 18 breaths/minute, and body temperature of 36.6 °C. Electrocardiography demonstrated a sinus rhythm with an incomplete right bundle branch block and bi-atrial abnormality, and a chest X-ray showed mild cardiomegaly. The results of laboratory tests were within normal limits: white blood cells of 6600/μL, hemoglobin of 16.1 g/dL, platelets of 212 k/μL, blood urea nitrogen of 12 mg/dL, serum creatinine of 0.93 mg/dL, aspartate aminotransferase of 28 IU/L, and alanine aminotransferase of 26 IU/L.
On TTE, the pulmonary valve was at the center position of the parasternal short axis view (Fig. a), and was opening well and arising from the right-sided ventricle. The aortic valve was on the left anterior side of the pulmonary valve, suggesting ventriculo-arterial discordance (Fig. a). CCT and three-dimensional modeling demonstrated the aorta and pulmonary trunk to be in similar positions to those shown by TTE (Fig. b, c), and demonstrated the parallel arrangement of the great arteries (Fig. b, d). TTE and CCT showed atrioventricular discordance in addition to ventriculo-arterial discordance (Fig. a-c). The left-sided morphologically RV was a systemic ventricle with prominently coarse trabeculation and an apically displaced atrioventricular valve as a tricuspid valve. The other smooth-wall right-sided pulmonic ventricle was morphologically a LV. Three-dimensional modeling of the chamber revealed similar information (Fig. c). The ejection fraction of the left-sided systemic ventricle (RV) was 58%.
A large VSD was also detected by TTE and CCT (Fig. a, b). While the left-sided atrioventricular (tricuspid) valve of the systemic ventricle was free of regurgitation, a moderate amount of regurgitant flow, with a peak velocity of 5.0 m/second, was noticed at the right-sided atrioventricular (mitral) valve (Fig. c, d), which we assumed was the reason why our patient was diagnosed as having tricuspid regurgitation and severe PAH at the primary hospital. However, we also detected pulmonic stenosis, with a maximal velocity of 4.2 m/second (Fig. a, b), even with the normal morphology and opening of the pulmonic valve (Fig. a).
Pressure measurement of each chamber by cardiac catheterization demonstrated almost equalization of both the ventricles; the systolic/diastolic/mean pressure of the LV and RV were 114/12/78 mmHg and 120/13/80 mmHg, respectively. Importantly, while the pressure of the aorta was 117/76/94 mmHg, the pulmonary arterial pressure was 36/17/24 mmHg, suggesting the protection of pulmonary vasculature by the presence of severe pulmonic stenosis. Oxygen saturation at the superior and inferior vena cava was 72.3% and 69.2%, respectively, but there was unexpectedly high oxygen saturation (93.9%) at the LV (pulmonic ventricle) near the VSD. Oxygen saturation at the pulmonary artery returned to 88.0% and the saturation at the aorta was 96.9%.
We thought it necessary to assess the detailed morphological features to explain the anatomic substrates of the pulmonary stenosis and the discrepancy in the oxygen saturation data at the right-sided LV. Detailed morphological analysis of the CCT and three-dimensional modeling and printing data were applied to understand the mitral/tricuspid valves and the VSD (Figs. e, f and e, f; supplementary video is available in Additional file ). The pulmonary trunk was shifted to the left and overrode the ventricular septum to become a double outlet RV relation of the arterial trunks. However, the outflows to the aorta and pulmonary trunk were separated by a prominent outlet septum (Fig. e; supplementary video is available in Additional file ). Because of the prominent outlet septum, the actual interventricular communication was smaller at the lower end of the outlet septum than at the real VSD (Fig. e, f; supplementary video is available in Additional file ). In addition, there was a straddling of the mitral valve, with a chordal attachment of the mitral valve to the outlet septum of the RV near the pulmonary valve (Fig. c). The straddling mitral valve and the outlet septum together formed a severe subvalvular pulmonic stenosis (Fig. c, e, f; supplementary video is available in Additional file ). In addition, the subvalvular structure of the tricuspid valve was connected to the interventricular septum (Fig. d). We interpreted these anomalies to reflect the mitral valve straddling over the posteriorly positioned VSD and hypertrophied outlet septum, which together could explain the functional and anatomical sub-pulmonary stenosis and a small amount of shunt flow through the large VSD. Based on these results, we decided to continue medical management, as well-balanced systemic/pulmonary circulations would be maintained with this particular combination of cardiac lesions.
Fifteen days after discharge, our patient visited our emergency room for chest pain, similar to the pain that occurred a month prior. Electrocardiography demonstrated atrial fibrillation with a rapid ventricular response. After direct current cardioversion, his rhythm was converted to sinus rhythm and his chest pain was relieved. He was subsequently started on aspirin and amiodarone and has been asymptomatic for 3 years. |
pmc-6639954-1 | A 28-year-old man presented at our hospital after a fall from his bicycle. He complained of right shoulder pain and the inability to move his right arm. The patient had a history of right ACJ dislocation because of a fall from his bicycle seven months earlier (Fig. a). He had undergone a right ACJ reconstruction with a suture-button (Zimmer Biomet, Warsaw, IN) and a hook plate (HOYA Technosurgical, Shinjuku, Tokyo, Japan) at another hospital (Fig. b). The suture-button passed from the clavicle to the coracoid via a 4.5 mm drill hole. After ACJ reconstruction, the hook plate was removed four months ago while X-ray radiography image before the removal suggested widening of the suture hole (Fig. c).
At the time of the present visit, a deformity of the right distal clavicle and loss of range of the right shoulder motion were observed. There were no findings suggestive of nerve or vascular injury. X-ray radiography images revealed a right clavicle fracture at the suture hole (Fig. ). Due to significant dislocation of the clavicle, removal of a suture-button, open reduction and internal fixation were scheduled.
Intraoperative findings demonstrated a fracture through the suture hole and multiple drilling holes near the suture hole (Fig. ). After the end-button of the coracoid process was detected and gripped with forceps, the suture was cut and the suture-button removed. Thereafter, open reduction was performed, and internal fixation was completed with a plate (Stryker, Kalamazoo, MI) (Fig. ). |
pmc-6640054-1 | A 42-year-old G1P0 woman from Sudan presented for prenatal care with trichorionic triamniotic (TT) TP, conceived via in vitro fertilization (IVF) with three 5-day blastocysts in Nairobi, Kenya. She had previously undergone uterine myomectomy and unsuccessful attempts at IVF. US records from 7 weeks 6 days (7w6d) gestation confirmed 3 intrauterine pregnancies, with additional confirmation by crown-rump length. Her uterus was enlarged by multiple fibroids. She started prenatal care at 22w2d gestation with a 33-cm uterus.
At 23w5d, US confirmed TT triplets with separating membranes. Fetus A was 24w6d with estimated fetal weight (EFW) of 696 g (58th percentile); Fetus B was 23w4d with EFW of 603 g (40th percentile); and Fetus C was 19w2d with EFW of 209 g (<10th percentile). All fetuses demonstrated normal limited anatomy and movements. UA Doppler, however, revealed reversed flow in Fetus C (). US also showed a posterior leiomyoma in the lower uterine segment measuring 13.2 × 9.2 cm, near Fetus C. UA Doppler findings were confirmed at 24w5d.
At repeat US 2 weeks later, Fetus C demonstrated abnormal heart, cardiomegaly, posterior fossa with cyst/absent cerebellar vermis (), displaced urinary bladder, 2 vessel cord, subcutaneous edema, and developing hydrops. UA Doppler revealed absent end diastolic flow (AEDF) without reversal. The patient was referred for fetal echocardiogram (echo) and follow-up US. Amniocentesis and genetic testing were declined.
Initial fetal echo, delayed due to insurance issues, took place at 28w5d. Echoes were normal for Fetuses A and B, whereas Fetus C—small, with discordant biparietal diameter (24.2w) and fetal length (19.4w)—demonstrated levocardia and situs solitus, UA AEDF, and elevated diastolic velocity in the middle cerebral artery (MCA) consistent with brain-sparing autoregulation. Diffuse biventricular hypertrophy, prominent right ventricular trabeculations (suggesting myocardial non-compaction cardiomyopathy), hyperdynamic systolic function, and a small pericardial effusion were noted. Biphasic filling pattern was normal, without atrioventricular regurgitation. Fetal heart rate was normal with 1:1 atrioventricular conduction.
Repeat US at 33w5d revealed growth of all triplets, with abnormalities consistent with prior examinations. The fetuses were monitored weekly from then onward.
Uncomplicated cesarean section took place at 34w6d. Baby A, male, was delivered breech, 2425 g, APGAR 9 and 9. Baby B, male, was delivered cephalic, 1960 g, APGAR 9 and 9. Baby C, sex undetermined, was delivered breech, 748 g, APGAR 7 and 9. Postoperatively, the mother demonstrated stable vitals and was discharged with Baby A. Babies B and C remained in the neonatal intensive care unit. Baby B was eventually discharged, but Baby C demonstrated numerous congenital abnormalities, including a prominent forehead, 2 vessel cord, ambiguous genitalia with small phallus, hypospadias, and bifid empty fold below the phallus.
At day 9, Baby C deteriorated, requiring intubation, high-frequency oscillatory ventilation, and antibiotics. X-ray revealed free intraperitoneal air. Drop in heart rate and metabolic acidosis prompted full cardiopulmonary resuscitation, and hematocrit of 29 necessitated transfusion of packed red blood cells. Baby C, however, did not respond. At autopsy, cause of death was identified as necrotizing enterocolitis due to prematurity. |
pmc-6641674-1 | A 26-year-old man presented to the Respiratory Department with a 1-month history of cough, shortness of breath, and occasional hemoptysis. His past medical, family and personal histories were unremarkable, as were physical examinations. Routine blood investigations were mostly negative, except a mild leukocytosis with predominance of granulocytes. Serum tumor markers were mostly within normal ranges, except an increase of carbohydrate antigen 125 (CA125) at 70.12 KU/l (<35.00 KU/l) and human chorionic gonadotropin (hCG) at 29.13 mIU/ml (<3.00 mIU/ml). The serum androgen level was normal, however, follicle stimulating hormone (FSH) and luteinizing hormone (LH) were decreased. Significant increases were found for estradiol (378.48 pg/ml) (11.00–44.00pg/ml), prolactin (63.74 ng/ml) (3.46–19.40ng/ml) and progesterone (1.79 ng/ml) (0.10–0.20ng/ml). Chest contrast-enhanced computed tomography (CT) revealed a large mediastinal mass and diffuse nodular opacities with blurred edges in both lungs (Fig. ). Brain magnetic resonance imaging demonstrated multiple lesions, while CT of the abdomen, and ultrasound of the testicles and breasts revealed no abnormalities. Biopsies of a right and left lung nodule were performed, however, both failed to produce a clear diagnosis.
The patient did not respond to antibiotics, hemostatics, mucolytics or bronchodilators. His condition deteriorated rapidly with frequent coughing and expectoration, recurrent hemoptysis, shortness of breath, hidrosis, chest pain and fatigue. Therefore, biopsies of both mediastinal and lung lesions were taken again, the results of which suggested choriocarcinoma (Fig. ). A diagnosis of primary mediastinal choriocarcinoma was made based upon immunohistochemical staining of the tumor and the absence of clinical or sonographic findings of testicular involvement, according to the Multidisciplinary Team (MDT) formed by multiple departments including Oncology, Respiratory, Pathology, Radiology, Gynecology, and Urology. The patient was transferred to the Oncology Department following the diagnosis. Oncologists determined the patient's ECOG score was 3. Facial edema and engorgement of bilateral neck veins were observed, which suggested superior vena cava syndrome. Gynecomastia was noted and thought to be due to increased estradiol. The lower right lung had rhonchi without moist rales, suggesting tracheal obstruction. The patient's neck, upper chest and back were scattered with red papules in a follicular pattern, which was diagnosed by dermatologists as Malassezia folliculitis. Laboratory tests showed a high level of serum β-hCG (56,958.00 mIU/ml, normal range < 2.00 mIU/ml)) (Fig. ), while urine was also β-hCG positive. Additionally, FSH and LH further decreased while CA125, estradiol, prolactin and progesterone increased. Furthermore, flow cytometry of blood lymphocytes showed a reversed CD4/CD8 ratio of 0.72 with 29% CD4+ T cells, though the HIV antibody tests were negative. Nonetheless, the apparent immune deficiency could be responsible for the patient's hidrosis, fatigue, Malassezia folliculitis and malignancy.
Because of multiple metastases, the patient was not eligible for surgical treatment or radiotherapy. Genetic testing did not find any meaningful gene mutation for existing targeted therapies, except for a missense mutation of the tumor suppressor p53 gene (TP53) at an abundance of 26.92%. Thus, systemic chemotherapy of the EMA/CO regimen (etoposide, methotrexate, actinomycin D, cyclophosphamide and vincristine) was administered. During the 4 chemotherapy cycles, the patient improved clinically in 4 areas: 1) less coughing, chest pain and hemoptysis, 2) the ECOG score lowered to 1, 3) β-hCG decreased dramatically to 442.40 mIU/ml (Fig. ), and 4) mediastinal, pulmonary and brain lesions were partially reduced. Nonetheless, the patient subsequently deteriorated with frequent coughing, hemoptysis, sweating, fatigue, chest pain, and increased β-hCG (Fig. ). Thus, he was given a different TP regimen (paclitaxel and cisplatin) for 2 cycles, but his illness could not be controlled. In a few days, he developed symptoms of a headache, dizziness and vomiting, which indicated intracranial hypertension caused by brain metastases. Mannitol, glycerin fructose, and dexamethasone could not stop him from getting worse. Muscle strength of the right lower extremity became 0 and a Babinski sign was present in the right foot. Intracranial hemorrhage could not be excluded. The patient and his guardian gave up on further examinations and treatments. Two weeks after discharge, he deceased with an overall survival of six and half months. |
pmc-6641677-1 | A 28-year old Korean woman presented to the emergency department after a witnessed syncopal episode on July 2017. She had epigastric discomfort and experienced dyspnea on exertion upon climbing stairs 2 days before admission. On the day of admission, she had transiently lost consciousness while complaining of dizziness. Her previous medical history was unremarkable. History of smoking tobacco, alcohol, or drug abuse was denied. Upon further inquiry, she admitted to having taken oral contraceptive pills for 5 days before going on a trip.
On admission, she was alert and oriented but lethargic with initial blood pressure of 78/38 mm Hg, a pulse rate of 116/minutes, and oxygen saturation 76% while breathing ambient air. Cardiac examination showed regular tachycardia with accentuated S2 sound and wheezing, crackles were present in the lower lung field. Abdominal findings were unremarkable. There was no leg edema. Her electrocardiogram revealed sinus tachycardia, normal axis, and normal intervals. Arterial blood gas analysis results were as follows: pH 7.46, pCO2 31.2 mm Hg, pO2 39.4 mm Hg, and bicarbonate 21.9 mmol/L. D-dimer was elevated to 10.1 μg/ml (reference range < 0.5 μg/ml). The complete blood count, electrolyte, glucose, prothrombin time, activated partial thromboplastin time, renal-, and liver-function tests were within normal range. A contrast-enhanced computed tomography (CT) scan was performed. There was near total occlusion of both main pulmonary arteries and upper, middle, and lower lobar pulmonary arteries that were consistent with acute pulmonary thromboembolism and deep vein thrombosis was seen at the left popliteal vein (Fig. ). Echocardiography showed dilated right ventricle with dysfunction, D-shaped left ventricle and inferior vena cava dilatation without plethora.
The patient was transferred to the intensive care unit (ICU) for close monitoring. She was hemodynamically stabilized after aggressive fluid resuscitation without need for thrombolysis or embolectomy, and supplemental oxygen was discontinued after several days. Anticoagulation treatment with low-molecular weight heparin was initiated and she was successfully discharged on hospital day 5 after switching to a direct oral anticoagulant (DOAC), rivaroxaban 15 mg every 12 hours.
Thrombophilia study for the patient showed the following results: PC 103 IU/dl (reference range 70–130 IU/dl), PS 75 IU/dl (reference range 70–130 IU/dl), and AT III 95% (reference range 80–120%), all levels within normal range. Lupus anticoagulant, anticardiolipin antibodies, and prothrombin G20210A gene mutation were negative. Homocysteine level was 6.59 μmol/L (reference range 4–15 μmol/L) and factor VIII level 164% (reference range 52–192%) were within normal range. Multiplex PCR was carried out using SNaPshot system to screen for FVL. Screening for FVL showed heterozygous mutation (1691G > A), confirming the diagnosis for massive VTE due to FVL mutation. The patient's family was counselled, and further investigations were done for the patient's father, mother, and brother. The patient's mother was found to have FVL mutation, but other family members were found to be normal (Fig. ).
Rivaroxaban was tapered down to a dose of 20 mg once daily after an initial 21-day course of higher dose therapy. Follow-up chest CT at 6 months of anticoagulation therapy showed no evidence of remnant pulmonary thromboembolism. After 12 months of anticoagulation therapy, rivaroxaban was discontinued. The patient is under close surveillance and has not had a subsequent thromboembolic event after discontinuation of rivaroxaban. |
pmc-6641847-1 | A 42-year old female was hospitalized for recurrent rashes in lower limbs and Raynaud phenomenon of fingers (Fig. ). Initially, the rashes were itchy and the low extremities were involved. After the treatment of prednisone in local clinic, the rashes disappeared. Over time, the purpura of fingers, numbness in the limbs and Raynaud phenomenon developed. The rashes reoccurred due to discontinuation of prednisone.
On admission, the patient presented with purpura in the fingers, skin ulcer and edema around ankle. She also complained pain of digits. The skin biopsy was performed in center of erythema on the right lower limb. Microscopy showed lots of infiltration of eosinophils and some of lymphocytes.
Complete blood count revealed eosinophilia [1.54 × 109/L, normal range (NR) 0.02–0.52 × 109/L]. Uterine protein was negative and renal function was normal. Other results were negative including hepatitis viral, HIV, antinuclear antibody, rheumatoid factor assays and antineutrophil cytoplasmic antibody. No hepatosplenomegaly was found by color Doppler ultrasonography. Electromyogram of upper extremities was normal.
Initially, the patient came to the department of rheumatism in our hospital. Eosinophilic panniculitis was suspected and prednisone was administered. The rashes disappeared and the pain in digits relieved. But the patient still complained recurrent numbness and purpura of fingers especially in cold environment. Based on eosinophilia, the patient was investigated by a hematologist. Also hypogammaglobulinaemia was noted with immunoglobulin (Ig) A 705 mg/L (NR 836–2900 mg/L) being below normal. Further laboratory tests as follows were applied. No obvious monoclonal gamma spike was found by serum protein electrophoresis. Immunofixation electrophoresis showed a monoclonal IgG-light kappa chain (Fig. A). Bone marrow smear examination showed an increase of eosinophils (19.5%) (Fig. B). Flow cytometry identified existence of clonality in plasma cells (1%) with aberrant expression of CD56. Skeletal X-ray and spinal MRI were negative. β2 microglobulin was 1.431 mg/L (NR 0.9–2.0 mg/L). Type I cryoglobulins were detected at 4oC. Thus, cryglobulinemia associated with MGUS, complicated with secondary eosinophilia, was diagnosed. Then, the patient was treated with compound cyclophosphamide at a dose of 50 mg on day 1 to 4 and predisone at a dose of 60 mg on day 1 to 4 every 28 days. Prophylactic warming and cold avoidance was also advised. After 4 cycles of treatment, the symptoms relieved and the cryoglobulin (CG) could not be detected. |
pmc-6641848-1 | The patient was a 27-year-old man who came to our clinic because of 2 years of primary infertility. A physical examination was performed, which revealed normal testis volume and texture. A questionnaire was completed by the patient, and known factors affecting fertility (such as smoking, excessive alcohol intake, serious systemic disease, abnormality of the external genitalia, known hereditary/familial disorders) were excluded.
Semen analysis according to World Health Organization guidelines indicated normal ejaculate volume and severe oligoasthenospermia (sperm concentration was 0.27 million/mL, and motile sperm were rare when examined under a microscope).
The karyotype of the patient was 46, XY, inv (9) (p11q13) (Fig. A). His wife's karyotype was normal (Fig. B). STS-based PCR analysis showed that the markers sY254 and sY255 were deleted. Other STS markers were present, including sY84 and sY86 for AZFa; and sY127, sY134, and sY143 for AZFb; indicating a lack of deletions in these regions (Fig. ). The patient and his wife chose to undergo ICSI treatment after genetic counseling. Nine oocytes were retrieved; 2 of these were successfully fertilized. On day 3, two embryos (6IV, 8II) were transferred to the uterus of the patient's wife with endometrial level of 10A. Fourteen days after embryo transfer, the serum β-HCG concentration was 256.3 mIU/ml, confirming the pregnancy. An ultrasound scan at 7 weeks of gestation revealed a single pregnancy with cardiac activity. The prenatal ultrasound found no significant abnormality. A healthy girl was born by cesarean section at 39 weeks of gestation, weighing 3.4 kg and measuring 50 cm in length. Second-trimester maternal serum triple-screening showed that the pregnancy was high risk for trisomy 21 syndrome (risk value: 1 in 150). The karyotype of the fetus, from cultured amniocytes, was 46, XX, inv (9) (p11q13) (Fig. C).
This study was approved by the Ethics Committee of the First Hospital of Jilin University, and informed written consent was obtained from the patient for the publication of this case report and accompanying images. |
pmc-6642253-1 | A 74-year-old female presented as a Level 1 Trauma Alert after sustaining a minor fall from standing. Prior to the fall, the patient complained of acute onset of abdominal pain. During the primary assessment, she was profoundly hypotensive and had an altered mental status (secondary to hemorrhagic shock). Initial hemoglobin level was 5.2. The massive transfusion protocol (MTP) was activated. Emergent bedside focused assessment with sonography for trauma (FAST) exam was positive for extensive hemoperitoneum, and the patient was immediately taken to the operating theater for an emergency laparotomy.
Upon entering the peritoneum, 4 L of blood and blood clots were encountered. On further exploration, a 20 cm pedunculated fibroid with an actively hemorrhaging superficial vein was visualized (). An intra-operative gynecology consultation was placed and the decision was to resect the leiomyoma with preservation of the uterus and tubes, given its prime location and visibility (A–C). Once control of the hemorrhaging vessel was attained, attention was turned to damage control; the abdomen was packed with combat gauze and laparotomy pads secondary to oozing from the resected tumor bed. Following surgery, the patient underwent an angiogram which revealed active extravasation of the left uterine artery. As a result, she underwent embolization of the left uterine artery (A–C). Post-embolization angiography was negative for any contrast extravasation. Up until this point, the patient had received a total of 26 units of blood and additional blood products (26 units of PRBC, 36 units of platelets, 21 units of FFP and 1 pooled cryoprecipitate). Final surgical pathology confirmed the diagnosis of leiomyoma and revealed focal areas with myxoid degenerative changes, the tumor measured to be 20 × 20 × 15 cm and weighed 1.25 kg ().
She was discharged on hospital day 13 in stable condition. Two-week follow up in the outpatient surgery clinic confirmed an uncomplicated recovery. |
pmc-6642473-1 | After 1 month of conservative treatment elsewhere, a 76-year-old Japanese woman who was previously healthy presented at our hospital with bilateral severe buttock and lower extremity pain, without a history of injury. She had a history of diabetes, hypothyroidism, and right breast cancer treated surgically 30 years previously. She had no appreciable familial or psychosocial history. Examination revealed the following: severe pain in the buttocks and posterior femoral area, positive straight-leg-raising tests at 30 degrees bilaterally, positive Valleix pain point and superior gluteal nerve pain point tests bilaterally, and negative femoral nerve-stretching tests bilaterally. The patient’s visual analogue scale (VAS; 100 mm) scores for lower extremity pain and numbness were 100/100 mm. By contrast, she had no motor deficit or dysfunction of the bladder or bowel. X-ray findings showed mild spondylosis. Magnetic resonance imaging (MRI) revealed a solitary intradural extramedullary mass at L2/3 with low T1, high T2, and uniform contrast enhancement with gadolinium (Fig. a–c). Myelography showed a total block of contrast below L2/3 and capping of contrast by the mass (Fig. d). The diagnosis was a solitary intradural extramedullary cauda equina tumor (a suspected schwannoma). The patient desired tumor extirpation because of the severe pain, so we evaluated her general status. A chest computed tomographic scan showed a suspected left breast cancer and lung metastasis (Fig. a, b). Brain MRI showed one small mass in the temporal lobe of the left side with a diameter of about 5 mm, a suspected metastasis (Fig. c). We considered a cauda equina tumor metastatic from the breast cancer. After obtaining informed consent, we performed an L1–3 laminectomy and tumor extirpation. Bloody cerebrospinal fluid was observed after the dura mater incision was made. The tumor was involved with the intact cauda equina, and careful division of adhesions was performed. After cutting the filum terminale (conglutinated with the tumor), the tumor was extirpated en bloc (Fig. ).
Postoperatively, the patient experienced pain relief. The pathology of the metastasis was adenocarcinoma. The result of cerebrospinal fluid cytology was negative. The patient started chemotherapy for breast cancer. At the 3-month postoperative follow-up, her VAS score was decreased for the lower extremity pain (from 100 to 0 mm) and numbness (from 100 to 20 mm). MRI showed no local relapses at the surgical incision. The lower extremity pain relief was maintained and was satisfactory during the postoperative course. Radiation therapy was performed to treat the brain metastasis after the surgery. The patient died 9 months postoperatively of Trousseau syndrome and brain metastasis due to breast cancer. |
pmc-6642474-1 | Our patient was a 55-year-old Sinhalese man who was admitted to a tertiary care hospital in central Sri Lanka with bilateral upper limb and lower limb numbness with associated weakness of 5 days’ duration. Five days earlier, he had felt numbness in his upper and lower limbs bilaterally and noticed weakness in his toes on the second day of illness. He had progressive weakness, and at the time of admission to the hospital, he had weakness in both upper and lower limbs. He had no associated respiratory difficulty, swallowing difficulty, or urinary or fecal incontinence or retention. He denied a history of preceding gastroenteritis and respiratory or other infections. Other than having hypertension, his past medical history was unremarkable. He denied alcohol abuse, smoking, or recent immunizations. On examination, his higher functions were normal, and he had bilateral symmetrical upper and lower limb weakness with prominent lower limb involvement. His distal muscles were weaker (grade 3) than his proximal muscles (grade 4). His limbs were flaccid, and all the reflexes were absent with flexor plantar response. He did not demonstrate any abnormalities in sensory, sphincteric, and coordination examinations. Left-sided isolated partial ptosis was noted without associated ophthalmoplegia (Fig. ), and his pupils were of normal size, symmetric and reactive to light. He had no associated ataxia. He did not complain of any double vision and had no associated fatigability. His other cranial nerves were also normal. His cough reflex and neck muscle power were normal with 500 ml of spontaneous tidal volume. His blood pressure was 160/100 mmHg with a pulse rate of 72 beats/minute and a respiratory rate of 12 breaths/minute. The result of his full blood count was normal with normal erythrocyte sedimentation rate and C-reactive protein concentration. His liver and renal profiles were normal. His serum potassium, calcium, and magnesium levels were normal. A nerve conduction study showed a severe demyelinating type of polyneuropathy. No decremental response to repetitive nerve stimulation was observed, and the result of single-muscle-fiber electromyogram (EMG) was negative. The patient’s ptosis did not improve with the ice pack test.
A diagnosis of GBS was made, and the patient was treated in the high-dependency unit with supportive care and intravenous immunoglobulin (IVIg; a standard single IVIg dose [0.4 g/kg bodyweight/day] for 5 consecutive days). Lumbar puncture done on the tenth day of the patient’s illness showed cell protein dissociation (cerebrospinal fluid [CSF] protein was 670 mg/dl with no white cells). The results of Gram staining and CSF cultures were all negative. His condition was gradually deteriorated over the next few days, and he became quadriplegic despite completing 5 days of IVIg therapy. Later he developed bi-lateral lower motor neuron–type facial nerve palsy. Apart from these, he developed difficulty in swallowing and impaired palatal movement on the 15th day of his illness with no associated other cranial nerve involvement. By this time, his left-sided ptosis had progressed to complete ptosis with a normal right eye. He never developed ophthalmoplegia or ataxia. His neck muscle power became weak, and he required mechanical ventilation due to respiratory failure. MRI of the brain, cervical and thoracic spine showed an unremarkable brain, cerebellum, brainstem, and cervical and thoracic spine with contrast enhancement in the intracranial part of the optic nerve and the Vth, VIth, VIIth, and VIIIth cranial nerve roots in the right side with left VIIth and VIIIth cranial nerves and basal leptomeninges. No mass lesion or obstruction of CSF fluid was seen. Ten days after completion of IVIg therapy, plasma paresis was arranged because of worsening of the patient’s illness. Plasma exchange was started with an exchange of about 2 L of plasma every other day for 5 days. A gradual improvement of respiratory function and left-sided ptosis was observed without significant improvement in peripheral muscle strength after the second cycle of plasma exchange, and after the fifth cycle of plasma exchange, the patient was weaned from mechanical ventilation. The neurologist’s opinion was taken, and it was decided to complete ten cycles of plasmaparesis. The patient’s peripheral muscle strength started to improve gradually with the seventh cycle of plasma exchange, when his proximal muscles of both upper and lower limbs improved earlier than his distal muscles. By this time, the patient’s left-sided ptosis was totally improved. He was given physiotherapy and discharged from the hospital after nearly 2 months of illness. He was regularly followed up in the clinic, and his proximal muscle power in both upper and lower limbs was normal when he was examined 1 month after discharge. His distal muscles' power had only slight improvement even after 4 months of illness. |
pmc-6642485-1 | A 14-month-old female with a history of gross motor delay and iron deficiency anemia presented to an urgent care with right hip pain. On evaluation, she had cervical and inguinal lymphadenopathy, an elevated ESR (109), CRP (10.19), anemia (Hgb 7.6) and WBC of 10 with 14% bands. Bilateral hip X-ray showed persistent undertubulation without fracture. After having several similar presentations for fever and inconsolability with significantly elevated inflammatory markers and concerning x-rays, she was admitted to the hospital for further evaluation. Intake exam was notable for hepatosplenomegaly, central hypotonia and erythematous maculopapular rash. The differential diagnosis included storage disorders, metabolic disorders, and infiltrative processes, such as leukemia.
Brain MRI was unrevealing, only noting cervical lymphadenopathy. Echocardiogram was unremarkable. Blood smear did not show leukemic blasts. Her rash was consistent with scabies and treated with permethrin. Her extensive metabolic work-up was normal (including urine mucopolysaccharides, creatine kinase, acylcarnitine profile, and plasma amino acids), except for elevated urine mevalonic acid. Repeat urine organic acids performed during another febrile episode again showed elevation of urine mevalonic acid. Genetic testing revealed two mutations in her mevalonate kinase gene with one allele having deletion of exons 10–11, while the other allele having a variant of p.Asn166Lys of unknown significance. Given mutations on both alleles for her mevalonate kinase enzyme, she was diagnosed with MKD.
Our patient is now 23 months old and thriving. Since her diagnosis of MKD, she was started on Anakinra with an excellent response, but she developed diarrhea and was transitioned to Canakinumab. To date, she has had no recurrence of fevers, rash, hepatosplenomegaly, or arthralgias. She is receiving physical and occupational therapy for her gross motor delay, and her skills have improved significantly. She is now walking without difficulty. |
pmc-6642490-1 | A 67-year-old lady with no prior comorbidities presented to Hamad General Hospital (HGH) with recurrent dull aching abdominal pain for 6 weeks with no history of weight loss, fever, or upper gastrointestinal (GI) symptoms. Initial abdominal imaging ultrasound (US) showed a distended gallbladder with a wall thickness of 5 mm, multiple stones (largest one measuring 16 mm), no intrahepatic duct dilatation, and no obvious liver lesions. She had an uneventful laparoscopic cholecystectomy with no significant intraoperative findings. The gallbladder was removed intact in an endobag, and there was no bile leak in the abdominal cavity. Histopathology of the gallbladder showed poorly differentiated (high grade) neuroendocrine carcinoma, large cell type, arising in a background of chronic and focally acute cholecystitis with cholelithiasis, intestinal metaplasia, and multifocal low-grade dysplasia. The tumor invaded through the muscular wall of the gallbladder into the surrounding adipose tissue with perineural and angiolymphatic invasion (Fig. a–c). As per new NCCN classification 2018, it is pT2bN0M0, stage IIb. Further immunohistochemistry staining showed that tumor cells were positive with pancyotkeatin (Ae1/Ae3), EMA, synaptophysin, chromogranin A, and CD56 but negative with CD15, WT1, TTF1, myogenin, and CD45 (Fig. d, e). These immunohistochemical stains confirm the epithelial lineage of this tumor and neuroendocrine differentiation.
Further imaging included a positron emission tomography scan (PET) that showed a hepatic lesion in segment IVB/V and magnetic resonance imaging (MRI) that also confirmed the existence of the same liver lesion in segment IVB/V measuring 28 × 27 × 30 mm (Fig. ) with no evidence of disease elsewhere. Serum markers including chromogranin were found to be highly elevated (982 mcg/L). The case was discussed in the Hepato-Pancreato-Biliary (HPB) tumor board meeting and the decision was to carry out a completion hepatectomy and regional lymphadenectomy. Intra-operatively, a mass in segment IVB/V and another nodule in segment III were found (Fig. ) that was not evident previously on PET CT or MRI. Intraoperative ultrasound examination of the liver confirmed the absence of other lesions; therefore, a central inferior hepatectomy was done together with wedge excision of the lesion in segment III and hilar lymphadenectomy.
Subsequent resection specimens showed similar features to those seen in the gallbladder confirming the metastatic disease (grade 3 neuroendocrine tumor—pure large-cell type) in the liver identical to the primary lesion within the gallbladder. The patient was kept under a rigorous follow-up schedule every 6 weeks. Four months following the first liver resection, a follow-up MRI showed a metastatic liver lesion 2.5 cm in diameter in segment II/III; therefore, a PET/CT scan was obtained to rule out any other metastatic foci, and none were found except the one detected by MRI in segment II (Fig. ). Hence, a redo (second) liver resection was done (left lateral hepatic segmentectomy). Histopathology showed a single metastatic lesion of high-grade neuroendocrine tumor (pure large-cell type).
Later during follow-up, the patient was found to have a locally recurrent disease on PET CT scan obtained 4 months post-redo (second) liver resection (Fig. ). The patient received systemic chemotherapy regimen consisting of carboplatin and etoposide. After the third cycle, a follow-up PET CT scan showed a newly developed lung lesion with good response in the locally recurrent liver disease. Therefore, the patient received an additional 6 cycles of chemotherapy. A repeated PET CT scan showed progressive lung and liver disease. The patient started developing sepsis (cholangitis due to biliary obstruction); for which she had palliative biliary stent placement and succumbed 26 months after the initial diagnosis (Fig. ). |
pmc-6642497-1 | A 30-year-old Chinese woman with yellowish-white macular lesion in right eye during a routine examination presented to our hospital. She had no other symptoms, and had no pain or vision loss in her right eye. The patient has no traumatic history. Her past medical history and ophthalmic history were negative. The initial best-corrected visual acuity (BCVA) was 6/6 for both eyes. The cornea was clear, and the anterior segment was normal. Pupils were equal, round and reactive to light with no afferent pupillary defect. There was no cataract in both eyes. The initial intraocular pressure (IOP) was 14 mmHg in the right eye and 13 mmHg in the left eye. Funduscopic examination of the left eye was unremarkable. A spindle-shaped yellowish-white and hypo-pigmented lesion of about 0.5 disc diameter vertically and by 1 disc diameter horizontally was located in the temporal macular area with a tip pointing towards the central fovea of the macula (Fig. , A). The IR photograph showed that the contour of the lesion was visible, and transverse elliptical and was consistent with the colorful fundus photographs (Fig. , B). Microperimetry visual field was basically normal (Fig. ). The SD-OCT showed a normal inner retina, mild thinner outer retina and RPE in the temporal macular area, with correspondingly increased choroidal reflectivity (Fig. ). Other OCT findings included outer retinal loss/attenuation with significant atrophy of an intact ellipsoid zone. OCTA of choroid capillary layer revealed increased density of the choroidal vasculature corresponding to the area of the lesion, while the superficial and deep layers appeared normal (Fig. ). With FAF, the lesion showed normal signals mostly with slight hyperautofluorescence at the nasal lesion margin (Fig. , A). FFA of the lesion showed variegated fluorescence and no leakage and change in the morphology during the whole imaging process (Fig. 5, B,C,D). Based on these findings, the patient was clearly confirmed to have torpedo maculopathy.
The treatment for this patient was closely observed. The patient was followed-up every 3 to 6 months. Her BCVA remained still 6/6 in both eyes, and the fundus lesion still remained intact during follow-up at 15 months. |
pmc-6642738-1 | A 51-year-old Han Chinese woman was admitted with a 1-year history of headache and dizziness. She had received no past interventions. She had no medical, family, or psychosocial history. Clinical examination showed the Romberg’s sign. Magnetic resonance imaging (MRI) demonstrated hydrocephalus with a disproportionately large fourth ventricle (Fig. a–c). She underwent a VP shunt (PS Medical programmable valve set at 1.0, which was equivalent to the opening pressure of 50–70 cmH2O in the upright position; Medtronic, Minneapolis, MN, USA) of the right lateral ventricle and had an uneventful postoperative course. Her symptoms were relieved totally. Five years later, MRI still showed a normal ventricular system (Fig. d–f). The parameter of the opening pressure of the programmable valve has never been adjusted because she has never had any discomfort. |
pmc-6642738-2 | A 24-year-old Han Chinese man presented with a 2-month history of headache and dizziness accompanied by progressive loss of vision in both eyes. His symptoms worsened after a cervical massage 1 week before admission. He had frequent paroxysmal headache associated with nausea, vomiting, and blurred vision. He had a history of mumps and viral encephalitis at the age of 4, which had no sequelae. He had received no past interventions. He had no other medical, family, or psychosocial history. On admission, his visual acuity was 0.5 in both eyes. Physical examination showed bilateral severe optic papilledema, forced head position, and bilateral Babinski’s signs. MRI (Figs. and ) revealed hydrocephalus with a remarkably enlarged fourth ventricle, crowded posterior fossa, and syringomyelia extending from C1 to C5. His Evans index was 0.4 (61.30/152.9). He underwent a suboccipital and C1 decompression and duraplasty. After the operation, his headache and dizziness were relieved rapidly, and both Babinski’s signs disappeared. On the 17th postoperative day, his visual acuity reached 1.2 in the right eye and 0.6 in the left eye, and his bilateral optic papilledema was reduced. MRI (Figs. and ) showed that the fourth ventricle had become smaller, the trumpet-like aqueduct had become tubular, and the syringomyelia had dramatically disappeared. His Evans index dropped to 0.36 (55.16/151.96). At his 20th-week follow-up, his visual acuity had reached 1.5 in the right eye and 1.2 in the left eye. At his tenth-month follow-up, his vision in both eyes had reached 1.5, and the volume of the ventricular system had further decreased on MRI. His Evans index had dropped to 0.34 (51.5/149.3). He had no discomfort. |
pmc-6642749-1 | The patient was a 71-year-old woman, originally from India, who came to the United States two weeks prior to presentation to our facility's outpatient clinic with a 3-month history of weight loss, dyspepsia, and fatigue. Initial workup showed a hemoglobin level (Hb) of 9.3 g/dl (12.9–16.8 g/dl) and atrophic gastritis on esophagogastroduodenoscopy (EGD). Hemoglobin estimation done at a follow-up visit with her primary care physician 2 weeks later was found to be 5 g/dl, and hospital admission for further evaluation and treatment was recommended. She was admitted the next day through the Emergency Department of a facility closer to her home of residence where she was found to have normal vital signs; a computed tomography (CT) scan of her abdomen and pelvis showed multiple abdominal and retroperitoneal lymph nodes but none greater than 1 cm, and it also revealed multiple hypodensities in the spleen and hepatomegaly. Hemoglobin and platelet levels had a nadir of 4.6 g/dl and 1000 cells/Ul (161,000–369,000 cells/Ul), respectively, requiring several packed red cells and platelet transfusions. Other significant investigation findings were new alanine aminotransferase (ALT) and aspartate aminotransferase (AST) elevations from 31 U/l to 144 U/l (5–35 IU/l) and 52 U/l to 106 U/l (0–40 IU/l), respectively, lactate dehydrogenase (LDH) of 472 U/l (85–210 U/l), ferritin of 2,604 ng/ml (11–206 ng/dl), haptoglobin of 22 mg/dl (43–215 mg/dl), and triglycerides of 489 mg/dl (30–150 mg/dl). Hepatitis B, C, and human immunodeficiency virus (HIV) antibodies were negative. Also, anti-nuclear antibody (ANA) and Coombs' test were negative. The bilirubin level was within the reference range. Similarly, serum electrophoresis was normal. Bone marrow biopsy done at this hospital before transfer to our facility showed B cells with no evidence of monoclonality, T cells with a normal CD4 : CD8 ratio, and no diagnostic aberrant antigenic expression; blasts were not increased.
The patient was subsequently transferred to our hospital ten days after the first admission for further management. Vital signs on admission were Bp 138/73, PR 78, RR 20, and T 98.2°F. Examination revealed multiple nontender cervical lymphadenopathy. Investigations showed Hb 5 gm/dl, white blood cell (WBC) 4,200 cells/Ul, ferritin 2331 ng/ml, platelets 19,000 cells/Ul, and triglycerides 489 mg/dl. Given the high suspicion of a lymphoproliferative disorder, pathology slides (from same bone marrow biopsy done in the previous facility) were sent to a tertiary hospital for further analysis). |
Subsets and Splits
Exclude ER emergencies
Retrieves 100 descriptions that do not contain the terms 'ER' or 'emergency', providing a basic filter of the dataset.