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pmc-6590499-1 | A 55-year-old postmenopausal female, gravida 0, presented for an annual gynecologic exam. Her surgical history was significant for a total abdominal hysterectomy with bilateral salpingo-opherectomy in 1986 for severe endometriosis. She had been taking conjugated estrogen daily since the operation due to postmenopausal symptoms and denied any vaginal bleeding or vaginal discharge. On bimanual examination, the uterus and cervix were noted to be surgically absent; however, a large pelvic mass was palpated. This mass was smooth, approximately 8 cm in diameter, and located at the apex of the vaginal vault. It was palpable rectally with no evidence of generalized lymphadenopathy. Stool guaiac test was negative.
Diagnostic tests to further investigate the mass included vaginal cuff cytology, imaging, and laboratory studies. A Papanicolaou test was benign. Serum Cancer Antigen-125 was normal at 8.4 U/mL. Computed tomography of the abdomen and pelvis (CT) revealed a 10 cm mass posterior to the bladder, compressing the rectum to the left (). The central portion of the mass was predominantly cystic with increased attenuation of the peripheral soft tissue border on the right lateral aspect. A diagnostic laparotomy was subsequently performed. The paravaginal cyst was drained, and the cyst wall was biopsied. Final pathology was benign.
Approximately two weeks later, the patient presented to clinic with right upper and lower quadrant pain, vaginal spotting, and watery vaginal discharge. There was no rebound tenderness or guarding present. A pelvic exam was unremarkable; the vaginal cuff was intact with no evidence of any masses or lesions. CT was notable for a right sided cystic mass that displaced the bladder and rectosigmoid colon to the left. Ultrasound-guided aspiration of the 7.67 x 7.76 cm loculated cystic mass was performed revealing 150 cc of serous fluid, with immediate relief in the patient's symptoms (). Due to clinical findings suggestive of a possible pelvic abscess, the patient was placed on antibiotics; however, the final aerobic and anaerobic cultures from the cystic fluid were negative for any infectious or malignant process.
Three weeks following aspiration of the cyst, the patient returned to clinic with complaints of right pelvic pain. Transvaginal ultrasound showed a recurrence of the 7 cm cyst, which was aspirated to reveal 270 cc of serosanguinous fluid. Cytology of the fluid was negative for malignancy and consistent with a benign cyst. Interestingly enough, a third recurrence of the cyst was noted with 230 cc of subsequent serous fluid drainage. Given the multiple recurrences and unpredictable nature of cyst, a laparotomy and right cystectomy was scheduled.
Surgical findings were significant for a large fluctuant mass in the right pelvis extending to the posterior peritoneum. The posterior-lateral capsular wall of the cyst was noted to be nodular and extensively adherent to the posterior peritoneum and pelvic side wall. Because of the extent of the adhesions, a combined transvaginal and abdominal resection was necessary. The right vaginal wall was subsequently entered, and the cyst wall was dissected from the deep pelvic side wall. Intraoperative frozen section of the cyst was notable for serous papillary adenocarcinoma. At this point in time, Gynecology Oncology was consulted intraoperatively and an omentectomy and peritoneal washings were performed which were also negative for malignancy. A thorough exploration of the pelvic cavity was only notable for a small cystic mass at the top of the sigmoid colon, which was excised and found to be a benign serous cyst.
Final pathology of the paravaginal cyst wall was remarkable for a benign squamous lining with scattered cell fragments of degenerated papillary configuration consistent with serous papillary carcinoma. The nodules on the posterior wall of the cyst showed necrotic stroma with dystrophic calcification representing infiltration of moderate to poorly differentiated serous papillary carcinoma of unknown primary. Further review of tumor markers demonstrated that the wall of the cyst was estrogen receptor (ER) and progesterone receptor (PR) negative; however, it was positive for Herceptin, CA-125, and focally positive for Wilms Tumor (WT-1), consistent with serous papillary carcinoma ().
Preoperative imaging of the patient was unremarkable for metastasis or any suspicious lesions. Given the findings, a postoperative head CT was performed which revealed no evidence of intracranial metastasis. The patient was subsequently referred to Gynecology Oncology where thorough discussions were held regarding palliative therapy versus chemotherapy and radiation. She was counseled on the limited data currently available on the treatment of vaginal cancer, and all acute and long-term serious sequelae, along with her poor prognosis, were further explained to the family. After many discussions, she was planned to start on once weekly cis-platinum chemotherapy given intravenously at a dose of 50 mg/m2 with concurrent external beam radiation plus interstitial brachytherapy. After receiving three courses of her chemotherapy, the patient refused additional treatment due to inability to tolerate the side-effects. Despite undergoing external beam radiation plus interstitial brachytherapy for three months, the patient experienced rapid clinical deterioration with subsequent vesicovaginal fistula formation, and the decision was made for palliative therapy and pain management after three months of aggressive treatment. |
pmc-6590510-1 | A 65-year-old male was admitted to our hospital because of ecchymosis on both lower extremities. Three years before admission, he was diagnosed with ITP by laboratory tests, including antibodies against platelet glycoprotein (GP) IIb/IIIa and GP IV, and bone marrow aspiration. He had been treated successfully with corticosteroids. History included nontuberculosis mycobacterial infection. Previous treatment included prednisolone (PSL; 5 mg/day), clarithromycin, rifampicin, and ethambutol hydrochloride. Two weeks before admission, routine laboratory examination showed normal platelet counts (PC; 185 × 109/l).
On admission, laboratory findings showed a PC of 3.0 × 109/l. Biochemical parameters and coagulation values were within the normal limit. Antibodies against Helicobacter pylori, hepatitis C virus (HCV), hepatitis B virus (HBV), and human immunodeficiency virus (HIV) were negative. We diagnosed him with acute exacerbation of chronic ITP. The clinical course is shown in Supplementary .
He was treated immediately with high-dose IVIG, PSL (40 mg/day, p.o.), and romiplostim (1 µg/kg). During the next four days, he developed respiratory failure; PaO2/FiO2 ratio was approximately 250. On the fourth day of hospitalization, computed tomography (CT) revealed ground-glass opacities (GGOs) with marginal infiltration in both lung fields, on the basis of which a diagnosis of alveolar hemorrhage was made. His dyspnea worsened gradually, and noninvasive positive pressure ventilation (NPPV) was initiated.
On the 11th day of hospitalization, a higher dose of romiplostim (10 µg/kg) was initiated together with pulsed doses of methyl-PSL (1000 mg/day for 3 days) and a second cycle of IVIG. His PC recovered by the 21st day of hospitalization, and he was discharged without any complications. The patient's PC has remained normal whilst being treated with 12.5 mg of PSL daily for 12 months, without recurrence of alveolar hemorrhage. |
pmc-6590510-2 | A 71-year-old male was referred to our hospital because of gingival bleeding, hemoptysis, and dyspnea. His past medical history included acute HBV infection during the pediatric period, which resolved without any prolonged hepatic disorders. Three months prior to admission, chest radiography showed a consolidation in the right lung field. Two days before admission, he underwent transbronchial lung biopsy and was diagnosed with cryptogenic organizing pneumonia.
The patient's PC was low (6.0 × 109/l) at admission, despite a normal PC (224 × 109/l) at 12 days before admission. Platelet-associated IgG increased to 81.7 ng/107 cells, and tests for antibodies against GP IIb/IIIa and GP Ia/IIa were positive. Serological tests for H. pylori, HCV, and, HIV were negative but positive for anti-HBs antibody, without viremia. Bone marrow examination showed an increased number of megakaryocytes, without apparent malignancy. CT at admission revealed pulmonary bilateral GGOs. The patient was diagnosed as having acute ITP with alveolar hemorrhage.
High-dose IVIG was started with PSL (0.5 mg/kg, p.o.); however, he developed dyspnea on the second day of hospitalization (Supplementary ). Given the risk for respiratory failure, a higher dose of romiplostim (10 μg/kg/w) was initiated. Nine days after admission, his PC increased to 9.0 × 109/l and respiratory symptoms resolved. On the 30th day after admission, he was discharged without any complications. |
pmc-6590510-3 | A 71-year-old male was admitted because of dyspnea and hemoptysis. He had a history of Stevens–Johnson syndrome due to salazosulfapyridine and pulmonary emphysema. On admission, he developed severe respiratory failure (P/F ratio: 100) and NPPV support was initiated. His PC was low (2.0 × 109/µl) at admission but had been normal (158 × 109/l) two months before. Laboratory tests showed high PA-IgG (605.8 ng/107 cells), and serological tests for H. pylori, HCV, HBV, and HIV were negative. Bone marrow examination revealed an increase in the number of megakaryocytes without malignancies. CT on the day of admission revealed GGOs with no evidence of infection. He was diagnosed as having acute ITP with alveolar hemorrhage.
The patient was treated with methyl-PSL pulse therapy (1000 mg daily for 5 days) and IVIG (Supplemental ). Rapid progression of severe respiratory failure occurred over the next two days; hence, we added romiplostim at a higher dose (10 μg/kg weekly). Four days after initiating treatment, his PC increased to 25 × 109/l and hemoptysis and dyspnea resolved. Despite tapering of the PSL dose, there was no recurrence of thrombocytopenia. |
pmc-6590521-1 | A 55-year-old woman who presented with gross hematuria was admitted to our department for a slow-growing right renal mass monitored over time by computed tomography (CT). Chondrosarcoma of the left scapula was diagnosed 15 years earlier. She presented with left shoulder pain, and a left scapula X-ray revealed a 7 cm mass with calcification. Magnetic resonance imaging (MRI) displayed a low signal on T1-weighted and a high signal on T2-weighted. She underwent scapula and humerus wide margin resection of the primary tumor with artificial humeral head replacement. The tumor was composed of cartilage cells growing a lobular architecture with eosinophilic reticulum and myxoid stromal tissue and was diagnosed as Grade 2 chondrosarcoma (). Initial surgical treatment showed no evidence of a residual tumor in the disease area and was deemed a successful surgery. Two years after the initial resection, she developed a local recurrence in the left scapula and subsequently underwent extensive resection surgery for both the tumor and clavicle. No residual tumor was detected following surgery. In the following year, multiple bilateral lung nodule shadows appeared on CT. Video-assisted thoracic surgery (VATS) was performed after being diagnosed with metastatic chondrosarcoma to the lung. She proceeded to undergo 13 RFA procedures for lung metastatic chondrosarcoma, with the RFA procedure being performed by an experienced radiologist at our institute. Cooled RFA electrodes (Cool-tip, Valleylab) with a 2 or 3 cm exposed tip were connected to a generator (series CC-1-100, Valleylab) and were inserted into the tumor. Power was applied for a period of 10-12 min using an impedance control algorithm []. Six years after RFA treatment, following multiple treatments to the same lesion, VATS was again conducted for a left upper lobe lung metastasis refractory tumor. She then underwent six additional RFA procedures for metastatic chondrosarcoma to bilateral lower lung lobes over the next 5 years. In total, she received 19 RFA and 2 VATS procedures for lung metastases. No relapse of the pulmonary metastasis occurred in 4 years prior to being admitted to our department.
At the time of admission to the urology department, the patient's laboratory results were within normal ranges, except for the presence of red blood cells in the urinalysis. Three years before the latest admission, CT revealed a cystic tumor in the upper half of the right kidney. Over a period of 3 years, the cyst developed from 14 mm to 46 mm. No septa or calcifications were observed in the tumor (). Hydronephrosis was not present, and the right ureter was normal. The patient did not undergo a contrast-enhanced CT due to iodine allergy. A 45 mm cystic tumor without septa, calcifications, or solid components was seen in the upper pole of the right kidney on MRI, displaying a low signal on T1-weighted and a high signal on T2-weighted MRI. Diffusion-weighted (DW) MRI showed rim enhancement. Contrast-enhanced images showed a thick, slightly enhanced cystic wall, and the tumor was classified as a Bosniak IIF cystic renal lesion (). Retrograde pyelography demonstrated a solitary filling defect in the upper pole of the right renal pelvis (). Urine cytology demonstrated low-grade malignant cells with a light green stained large reticulum and a mucus-like substance (). The preoperative differential diagnosis included cystic renal cell carcinoma, carcinoma of the renal pelvis, and metastatic chondrosarcoma. The patient underwent laparoscopic nephroureterectomy, partial cystectomy, and regional lymph node resection. Macroscopically, the resected specimen contained a well-circumscribed tumor measuring 5 × 4 cm. The tumor involved the renal pelvis, and the cut surface of the tumor was white and jelly-like (). Histopathological findings showed a myxoid tumor in the tumor wall that invaded the renal pelvis. A cartilaginous tumor composed of atypical cartilage cells was observed. No tumor cells were present in the ureter. Considering the primary tumor pathological findings, we hypothesized that the tumor was composed of cartilage cells with a high cell density and enlarged nuclei (). The tumor cells were positive for toluidine blue staining, confirming a cartilaginous component (). The kidney tumor was also diagnosed as Grade 2 chondrosarcoma (). The resected lymph nodes were negative for metastasis. The final pathological diagnosis was chondrosarcoma metastasis to the kidney. The patient's postoperative course is promising, and she has remained disease-free for over 18 months of follow-up. |
pmc-6590528-1 | A 26-year-old middle-eastern man presented with dusky discoloration of his skin involving his upper and lower extremities for 4 years. The discoloration involved the dorsal surfaces of his metacarpals and metatarsals, which appeared only upon exposure to cold temperatures, associated with mild discomfort, and disappeared with rewarming initially. Upon presentation, the discoloration was visible at room temperature.
Upon further questioning, he was found to have been diagnosed with juvenile idiopathic arthritis since childhood. During his childhood, he had stiffness upon elbow extension, which was more pronounced on the right side than on the left, as well as stiffness upon movement of his knees. In the past, he also complained of morning stiffness lasting for a few minutes as well as stiffness after sitting for prolonged periods of inactivity which improves throughout the day. Additionally, he had mild periodic swelling of finger joints, but not accompanied by pain or redness. At the present presentation, he denied having fever, joint stiffness or redness, pain, and joint swelling. He also denied weight changes, muscle weakness or tenderness, fatigue, hair loss, visual disturbances, eye or mouth dryness, mouth ulcers, numbness/weakness of the lower extremities, and skin rash. His family history was remarkable for juvenile idiopathic arthritis in both his mother and sister. He was started on iron supplementation since childhood and oral prednisone at age 16 to manage his juvenile idiopathic arthritis; otherwise, he took no other medications. Review of systems was negative for any other complaints, and he denied any history of surgical procedures.
On examination, he was sitting comfortably in no apparent distress, with no pallor of the conjunctiva or lymphadenopathy of the head and neck. Head, eyes, ears, nose, and throat examination did not reveal any abnormalities. Rheumatologic exam revealed deformations of the interphalangeal joints bilaterally, with fusiform enlargement of the proximal interphalangeal joints of the fingers, associated with reddish discoloration over the joints of the hands bilaterally, with no gross abnormalities of the nails. Examination of the metatarsals revealed mild erythema without other changes. Examination of knees, elbows, and other joints was unremarkable for any redness, swelling, or deformity. Cardiovascular, respiratory, neurological, and abdominal examinations were unremarkable. However, capillaroscopic examination was normal.
Upon evaluation, serologic tests including antinuclear antibody, rheumatoid factor (RF), anti-cyclic citrullinated peptide, and anti-neutrophil cytoplasmic antibody were negative. Serum levels of complements (C3 and C4) were normal. Inflammatory markers such as erythrocyte sedimentation rate and C-reactive protein were also within normal limits. Subsequent testing for plasma cryoglobulins returned positive, qualitative analysis of which revealed a faint polyclonal pattern. Investigations for potential viral etiologies, including hepatitis B and C and human immunodeficiency virus, were all negative. The total complement level (CH50) was >60 U/mL. Additional tests including serum protein and urine protein electrophoresis did not reveal a monoclonal gammopathy. Serum creatinine remained within normal limits. He was subsequently diagnosed with cryoglobulinemia, and treatment with rituximab was instituted, for which the patient received a cycle every 6 months in addition to methotrexate. He had a dramatic clinical improvement following the first cycle of therapy. He received two cycles of rituximab thus far and is currently in remission with minimal side effects of therapy. |
pmc-6590537-1 | A 17-year-old Caucasian boy presented with several months of abdominal pain, fever, and dark-colored urine. Three months prior to this admission, he was hospitalized with similar complaints of epigastric abdominal pain, associated with vomiting, and fever. His initial CBC did not reveal pancytopenia and was within normal limits with WBC of 8.8 × 109/L, hemoglobin of 110 g/dL, and platelet count of 155 × 109/L.
While laboratory studies indicated the presence of anemia and thrombocytopenia, urinalysis revealed too numerous to count red blood cells. Abdominal CT showed normal-appearing kidneys and thickening of the wall of the small bowel, cecum, and ascending colon. In the context of persistent pancytopenia, fatigue, gross hematuria, and abdominal pain, our initial differential diagnosis included acute glomerulonephritis. Initial anemia was attributed to ongoing blood losses. Thrombocytopenia was attributed to acute illness. Differential diagnosis also included inflammatory bowel disease with anemia of chronic disease, intestinal lymphoma, vasculitis, and leukemia. Clostridium difficile toxin was detected by PCR in his stool. The patient was diagnosed with infectious colitis and IgA nephropathy. Cystoscopy was not performed as bladder pathology was low on our differential diagnosis. He was treated with metronidazole and discharged. The patient's gross hematuria and abdominal pain resolved, but he continued to have fatigue, anemia, and thrombocytopenia.
During his second presentation, the patient complained of severe abdominal pain, fever, and reappearance of dark-colored urine. He was a muscular teenage boy, with weight in the 84th percentile, height in the 95th percentile, and BMI in 95th percentile. On physical examination, he appeared alert, oriented, and in moderate distress due to abdominal pain. His abdomen was nondistended, soft, with tenderness on palpation in the left lower quadrant. No hepatosplenomegaly or lymphadenopathy was noted on exam.
Laboratory results showed a white blood cell count of 3.9 × 109/L, hemoglobin of 96 g/dL, platelet count of 109 × 109/L, and reticulocyte count of 4.1% (reference range, 0.5–2.5%). Differential count included 59% neutrophils, 13% bands, 22% lymphocytes, and 6% monocytes. Mean corpuscular volume noted to be 79.8 fl/cells. Serum ferritin noted to be 124 ng/ml. The erythrocyte sedimentation rate (ESR) was 56 mm/hr. Inflammatory markers were elevated, and C-reactive protein was 196.8 mg/L. Patient did not appear to be jaundiced on exam; however, his total bilirubin was elevated at 1.8 mg/dL with a direct bilirubin of 0.8 mg/dL. His serum lactate dehydrogenase was elevated at 1225 IU/L. With 13 mg/dL of blood urea nitrogen and 0.91 mg/dL of creatinine, his renal functions were within normal limits. Urine protein to creatinine ratio was normal at 0.15. His total bilirubin was 1.8 mg/dL (30.7 μmol/L), and conjugated bilirubin was 0.8 mg/dL. Antistreptolysin O was 378 IU/ml (reference range, 0–200 IU/ml) and complement component 3 (C3) was 120 mg/dL (reference range, 85–183 mg/dL). The direct Coombs test was negative. A repeat urinalysis showed urine of amber color and too numerous to count red blood cells. Urine dipstick following microscopic urinalysis was performed. Dipstick was positive for 4 + blood. Microscopic urinalysis was positive for too numerous to count red blood cells. Hemoglobin and myoglobin were not additionally sent, as microscopic examination confirmed that there were too numerous to count red blood cells.
Due to ongoing abdominal pain, a CT of the abdomen was performed, which revealed thickening of a segment of the small bowel wall and signs of possible microperforation (). Due to worsening of abdominal pain, the onset of new peritoneal signs, and elevation of inflammatory markers, an exploratory laparotomy was performed. Surgical exploration showed a necrotic segment of the jejunum, 45 cm of the mid-jejunum was resected (). Histopathology report confirmed the presence of hemorrhage, necrosis of the resected segment, and acute inflammation of the intestine and mesentery with the presence of eosinophils. Clinical presentation and histological evaluation were consistent with an autoimmune process with small vessel vasculitis (). At this time, the differential diagnosis was broader and included polyarthritis nodosa, granulomatosis with polyangiitis, and eosinophilic granulomatosis with polyangiitis. After surgery, the patient continued to have pancytopenia and gross hematuria. Due to a further drop in hemoglobin (77 g/L), he required transfusion of packed red blood cells. To further determine the etiology of pancytopenia and hematuria, the hematology, gastroenterology, and nephrology services were contacted. The differential diagnosis was broad and included hematologic, rheumatologic, and neoplastic etiologies.
The antinuclear antibody titer was 1 : 80 (reference range, <1 : 40); anti-double-stranded DNA titer was 1 IU/ml (reference range, <4 IU/ml); haptoglobin level, <15 mg/dL (reference range, 30–200 mg/dL). The prothrombin time was mildly elevated at 16.9 seconds (reference range, 9.6–13.4 seconds), partial thromboplastin time was 23.7 seconds (reference range, 23.5–39.6 seconds), and the international normalized ratio was 1.5 (reference range, 0.9–1.1). Tests for hepatitis A, B, and C, Epstein-Barr, and human immunodeficiency viruses were all negative. Persistent pancytopenia in our patient triggered a bone marrow investigation. Bone marrow biopsy showed hypocellular marrow with a decreased number of myeloid cells, the normal number of megakaryocytes, and signs of erythroid hyperplasia. PNH flow cytometry panel results were pending, and the patient was discharged with the recommendation to follow-up with multiple subspecialists.
The patient later presented to an outside facility with recurrent abdominal pain and dark-colored urine. He also had generalized malaise and signs of upper respiratory symptoms, secondary to influenza infection, and CBC was remarkable for neutropenia with WBC 2,000 × 109/L, with an absolute neutrophil count of 860/mcL . The urinalysis during his third hospital stay revealed hemoglobinuria. Although the urinalysis during the two previous hospitalizations was positive for too numerous to count red blood cells which was consistent with hematuria and not hemoglobinuria, the findings were consistent with a diagnosis of PNH: 22% GPI-deficient erythrocytes, 21.49% GPI-deficient granulocytes, and 50% GPI-deficient monocytes. Since patients with PNH have an interindividual (and in time) variable degree of bone marrow failure, they can also develop aplastic anemia. Our patient was noted to have an elevated reticulocyte count of 4.3%, which was attributed to his ongoing hemolysis. His elevated LDH levels may have been secondary to his hemolytic anemia and increased breakdown of red blood cells. The patient was started on eculizumab infusions for lifelong management. Repeat CH50 level was low at 8 Units, indicating the efficacy of eculizumab. During the first 2 months of treatment due to the high risk of thrombosis, he also received the anticoagulant enoxaparin. A repeat bone marrow evaluation showed normocellular marrow with normal trilineage hematopoiesis. |
pmc-6590543-1 | We report a 73-year-old female patient with metastatic thyroid papillary carcinoma who was treated with total thyroidectomy. The operation was followed by four radioiodine therapies over a period of 6 years. At 6 years she developed lung metastasis without radioiodine uptake, one solitary liver metastasis and one solitary right renal metastasis. One year after the first diagnosis of radioiodine resistant lung metastasis the lung metastasis showed progression according to RECIST criteria. The patient was therefore enrolled in the phase III study comparing lenvatinib to placebo. After the study ended the patient was unblinded. Lenvatinib treatment resulted in prolonged partial response with disappearance of the hepatic and renal metastasis. During further treatment with lenvatinib with dose reduction from initially 24 to 10 mg at 17 months of lenvatinib treatment a myocardial infarction occurred after 39 months of lenvatinib treatment resulting in implantation of 3 stents and a two chamber pacemaker. Treatment with lenvatinib was discontinued at the time of diagnosis of the myocardial infarction. Except for well controlled hypertension there were neither predisposing diseases like diabetes nor symptoms of cardiac ischemia on exertion. Quarterly repeated echocardiography at rest showed normal results during the first two years of lenvatinib treatment during the phase III study. However, the family history for cardiovascular diseases was positive for cardiac infarction reported for one brother. Another brother was treated for hypertension and the patients' mother suffered from a cerebral infarction at the age of 60. |
pmc-6590549-1 | A 52-year-old woman (gravida1 para1) without any past medical history visited Tottori Prefectural Central Hospital, and complained with left backache in January 17th, 2017, and she had several kinds of medical examinations by a urologist at that time. A CT scan showed a 4 cm mass in left retroperitoneal cavity and ipsilateral hydronephrosis above stenosis, however, the primary lesions could not be identified. Magnetic resonance imaging (MRI) of the abdomen and pelvic cavity also exhibited a 4 cm mass and left hydronephrosis (). Several tumor markers, such as CA125 and CA19-9, were in normal ranges except for NCC-ST-439 (normal range: less than 4.5 U/mL). Diagnostic laparotomy with bilateral salpingo-oophorectomy, biopsy of left retroperitoneal tumor, and endometrial curettage were performed in April 13th, 2017. Because we predicted the severe adhesion in her pelvic cavity, the exploratory laparotomy was chosen instead of laparoscopic operation. A histological examination revealed the endometrioid carcinoma suspicious of an extrinsic origin. No malignant tissues were found in the ovary, fallopian tube and eutopic endometrium.
She was referred and admitted to Tottori University Hospital as Cancer of unknown primary (CUP) in June 30th, 2017. The guidelines for treatment of uterine body neoplasm (the endometrioid type) by Japan Society of Gynecologic Oncology recommended the chemotherapy as adjuvant treatment for the case with the difficulty of excision. To prevent the metastasis in the other organs, we chose the systemic chemotherapy as a preoperative adjuvant treatment. First, 3 cycles of Paclitaxel and Carboplatin were administered, however, the size of tumor did not decrease. Thereafter, as the second-line regimen, she underwent 4 cycles of Doxorubicin and Cisplatin, and achieved approximately 28% decrease in the target lesion. Hence, we carried out the second surgery in February 1st, 2018, and found the tumor adjacent to left iliac vessels. Left ureter, sigmoid colon and uterus were involved with the tumor (). Following adhesiolysis, we removed the tumor with approximately 5 cm ureter, and accomplished left ureterectomy, ureter anastomosis, hysterectomy, left pelvic lymphadenectomy, and omentectomy. However, we could not identify the primary malignant lesion. Pathological examination proved the tissue of ureteral endometriosis adjacent to the malignant tissues (Figures –). The endometriotic tissue with necrotic tissue influenced possibly by the chemotherapy (), and the endometrioid adenocarcinoma (), and the part of atypical endometriosis, which are considered to be the precancerous lesion were observed (). These features were consistent with the diagnosis of well differentiated endometrioid adenocarcinoma (Grade 1 FIGO), surrounded with endometriotic tissue (). We diagnosed this patient as the malignant transformation of ureteral endometriosis. Posttreatment imaging showed no residual tumor. Since then, she was treated with 4 cycles of adjuvant chemotherapy with Doxorubicin and Cisplatin which had been effective, and the immediate postoperative condition was uneventful. The patient has not shown any findings of recurrence until this December 31st, 2018. |
pmc-6590551-1 | A 60-year-old female with a past medical history of hypertension (HTN), diabetes mellitus type 2 (DM2), ulcerative colitis (UC), coronary artery disease (CAD), diastolic congestive heart failure (CHF) with ejection fraction of 60%, acute pancreatitis (1 episode, 2014), and cholecystectomy (in 1990s) presented in 2017 with severe epigastric pain for one day. It was constant, 10/10 in severity, was radiating to the back, and was associated with severe nausea, numerous episodes of nonbloody nonbilious vomiting and anorexia. Symptoms began three days after starting metronidazole for C. difficile colitis (developed after treatment with antibiotics for cellulitis). She had no history of alcohol use, hypertriglyceridemia, recent flu-like illness, travel to parasite endemic areas, direct trauma, systemic lupus erythematosus (SLE), vasculitis or other autoimmune diseases. She had no family history of pancreatitis. She had no recent history of endoscopic retrograde cholangiopancreatography (ERCP). She had a 20 pack-year smoking history. Home medications included inhaled albuterol, alprazolam, atorvastatin, clonidine, inhaled fluticasone-salmeterol, losartan, loratadine, montelukast, and omeprazole.
Her vital signs at presentation were stable. Her physical exam revealed distended abdomen with severe epigastric tenderness and diminished bowel sounds but no guarding or rebound tenderness. No other abnormal physical exam findings were noted. Labs on admission showed the following: white blood cells (WBC) count was 16,000/μL with neutrophilic predominance and no eosinophilia. Lipase was >396 U/L (amylase not measured). Liver function tests (LFTs) were mildly elevated with total bilirubin 0.7 mg/dL, aspartate aminotransferase (AST) 59 U/L, and alkaline phosphatase (ALP) 135 IU/L. Calcium level was 8.6 mg/dL. Triglycerides level was 69 mg/dL. Antinuclear antibody (ANA) and anti-double stranded DNA (anti-ds DNA) were negative. Ultrasound of the abdomen revealed an 8 mm common bile duct (CBD) s/p cholecystectomy, with no obvious choledocholithiasis. CT of the abdomen and pelvis revealed peripancreatic fat stranding adjacent to the pancreatic tail (). A diagnosis of acute pancreatitis was made, with Apache II score of 6 (on admission). The patient was made nil per os (NPO), and fluid resuscitation in addition to pain management was started. Metronidazole was stopped at admission. The symptoms improved rapidly, the lipase downtrended within 2 days (>396→200→134 U/L), and the patient was discharged home.
In 2014, the patient had a similar episode of acute pancreatitis with similar symptoms that developed 4 days after starting metronidazole for C. difficile colitis. Lipase at that time was elevated at 808 U/L, and CT angiogram (CTA) of the abdomen and pelvis at that time showed focal edematous pancreatitis of the pancreatic tail (). Metronidazole was also stopped at that time, and the patient was made NPO with fluid resuscitation and pain management. Her symptoms improved rapidly, her lipase downtrended within 2 days (808 → 108 U/L), and the patient was discharged home. |
pmc-6590554-1 | A 65-year-old Japanese woman came to our hospital because of increased urinary frequency and dysuria over a 2-year period. Abdominal ultrasonography and cystoscopy findings revealed a broad based non-papillary tumor with a diameter of approximately 3.0 cm around the neck of the urinary bladder, with urine cytology findings positive for malignancy. Enhance computed tomography revealed a 3.0×5.0-cm mass with a heterogeneous contrasting effect between the urethra and bladder neck (), though no distant metastasis was found. Additional examinations showed a serum AFP level of 48.3 ng/mL (normal <10.0 ng/mL), while CEA, CA19-9, and prostate specific antigen (PSA) levels were within normal ranges. Transurethral resection of the tumor between the urethra and bladder neck did not lead to a definitive diagnosis, but the possibility of carcinosarcoma of the urethra was indicated. Based on these findings, we diagnosed urethral cancer, clinical stage T3N0M0, and performed a radical cystourethrectomy procedure along with ileal conduit formation. Lymphadenectomy was not performed in this case.
The total operation time was 8 hours 28 minutes and blood loss was 1081 mL. As shown in , the excised specimen contained two ulcerated cancer lesions, one around the trigon of the urinary bladder and the other on the proximal urethra. Pathological assessment of the resected specimen revealed a poorly differentiated adenocarcinoma with various characteristics, such as clear cytoplasm and an NE tumor appearance (). Immunohistochemistry was performed, which showed cells stained positive for AFP (), and negative for CEA, CA19-9, PSA, and p63. In addition, some cancer cells were positive for the NE markers CD56 (), chromogranin A (), and synaptophysin (). As these characteristics of the tumors were common to the two lesions, we considered that they were originally continuous lesion before transurethral resection. Finally, the morphologic and immunohistochemical findings confirmed a diagnosis of AFP-producing primary urethral adenocarcinoma with focal NED (the final tumor stage was pT3).
There were no peri-operative complications and the patient was discharged 37 days after surgery without adjuvant treatment. Serum AFP was immediately normalized after surgery and no signs of tumor recurrence including re-elevation of serum AFP have been noted 2 years postoperatively. |
pmc-6590559-1 | A 33-year-old male patient was suffering from epileptic seizures since the age of sixteen. He is right handed and his personal and familial medical history were free. At 16, he had three episodes with bilateral tonic clonic seizures at awakening. After the beginning of medication he presented only with focal hyperkinetic seizures with mild impairment of awareness without secondary generalization.
Because of drug-resistance he presented for presurgical evaluation. His seizure frequency was 4-8 seizures per month. His medication was lacosamide 600 mg/day, levetiracetam 3000 mg/day, and valproic acid 1000 mg/day.
Brain MRI revealed increased T2 and FLAIR signal intensity of right frontal lobe, due to possible gray matter heterotopias or FCD (1.5 Tesla MR imaging study), Figures and .
The patient underwent long term video-EEG with surface electrodes for three days, where five seizures were recorded with variable duration from 16 to 30 seconds.
Data suggested that epileptogenic network was at right frontal lobe. We proceeded thus with implantation of subdural grids and strips and depth electrodes to this specific area, in order to achieve a precise localization of caudal boundaries of epileptic network as well as to map the cortical functions, especially the kinetic area.
Second long term video-EEG and subsequent cortical stimulation led to a tailored resection of the right frontal lobe with respect to the kinetic area.
The available postoperative data concern a period of two years of seizure freedom.
The histopathological findings of the resected brain specimen revealed the emerging entity called MOGHE, Figures , , and . |
pmc-6590560-1 | Our patient is a 32-year-old African-American male with past medical history of HIV/AIDS, hypertension, and focal segmental glomerulosclerosis (FSGS) related chronic kidney disease stage 3, who presented to our institution complaining of a two-week history of generalized abdominal pain, associated with jaundice, pruritus, nausea, and vomiting. The patient's HIV/AIDS status was significant for a very low CD4 count of 11 cells/mm3 with a viral load of 64000 IU/ml. Patient had history of nonadherence to antiretroviral therapy and was not taking his medications since his diagnosis of HIV. Review of systems was otherwise normal. Travel history or use of nonprescription medications was negative. Family history was noncontributory. Surgical history included a knee surgery. He had 20-pack year history of cigarette smoking but denied alcohol, illicit drug use, or hepatotoxic medications. Pertinent positives in the physical examination included icteric sclera, hepatomegaly 2 cm below costal margin, and jaundiced skin. Admission labs revealed abnormal liver chemistries: aspartate transferase (AST) 255 U/L, alanine transferase (ALT) 461 U/L, alkaline phosphatase 123 U/L, gamma glutamyl transferase 34 U/L, and total bilirubin 17.4 mg/dL. Viral hepatitis workup was negative which included IgM/Total hepatitis A, IgM hepatitis E, anti-HCV antibody, HCV RNA, HEV RNA, hepatitis B surface antigen, IgM/total hepatitis B core antibody, and HBV DNA viral load. Other infectious disease workups including cytomegalovirus (CMV), Herpes Simplex (HSV), Epstein Barr (EBV), syphilis, and varicella were all negative. Ultrasound liver revealed hepatomegaly. MRCP done for borderline elevated alkaline phosphatase and pruritis but was negative for any biliary pathology. Urine drug screen was negative. Amongst autoimmune markers, anti-nuclear antibody (ANA), and liver kidney microsomal (LKM)-1, anti-mitochondrial antibody (AMA) was negative, but anti-smooth muscle antibody (SMA) titers by ELISA came positive at 1:84 with elevated immunoglobulin G levels of 3540 g/L (twice upper limit of normal levels). Further evaluation with core liver biopsy revealed chronic lymphoplasmacytic inflammation with abundant plasma cells and minimal interface activity without bile duct damage, necrosis, or fibrosis suggestive of autoimmune hepatitis (). Patient fulfilled the Revised Original Score for Autoimmune Hepatitis with score of 20 giving diagnosis as “Definite for AIH” [, ]. The patient was started on standard dose of highly active antiretroviral treatment (HAART) and prednisone 30 mg oral daily with close monitoring of liver enzymes. After starting prednisone, the patient improved symptomatically with improvement in liver functions and immunoglobulin levels. Patients CD4 count remained < 50 during the period of liver function improvement. Azathioprine was introduced gradually at 1-1.5 mg/kg on week 2 after confirming normal thiopurine methyltransferase (TPMT) phenotype and subsequently steroid was tapered off successfully. Patient's liver enzymes normalized completely after 9 months with continued azathioprine and HAART. |
pmc-6590561-1 | The patient was an 83-year-old male who had been working as a coal miner and was diagnosed with silicosis at another hospital at the age of 63. He had experienced repeated pericardial effusions 5 years ago and had undergone pericardiocentesis twice; however, the cause of pericardial effusion remained unclear, and he was referred to our hospital for surgical pericardial biopsy and pericardial fenestration.
He presented with general fatigue and exhibited stable vital signs. Fine crackles were heard during inspiration, and a restrictive pattern was observed on pulmonary function testing (vital capacity 2040 mL (71% predicted) and forced expiratory volume in 1 s 1550 mL (81.2% predicted)). We noted peripheral vein swelling and mild limb edema. Laboratory testing showed a white blood cell count of 4900/μL, hemoglobin levels of 11.3 g/dL, platelet count of 18.2 × 103/μL, and C-reactive protein levels of 0.06 mg/dL. No obvious liver or renal insufficiency (aminotransferase levels of 17 U/I, alanine transaminase levels of 6 U/I, total bilirubin levels of 0.2 mg/dL, total protein levels of 6.6 g/dL, albumin levels of 3.9 g/dL, blood urea nitrogen levels of 30.3 mg/dL, and creatinine levels of 0.8 mg/dL) was detected. His brain natriuretic peptide levels were 104.0 pg/mL. Low QRS voltage was observed on electrocardiography. A chest radiograph revealed cardiomegaly; his cardiothoracic ratio was 61.0% (). Opaque nodules measuring ~30 mm were observed bilaterally in the upper lung, and diffuse, small nodules were observed throughout the lung field and hilar region (). Transthoracic echocardiography and chest computed tomography both revealed massive pericardial effusion (Figures and ). Additional findings on echocardiography included not only a right atrium collapse but also a hyperechoic pericardium and pericardial thickening (). In addition, there were no significant valvular disease and signs of heart failure (ejection fraction value of 84.0%, left ventricular end diastolic/systolic diameter of 39/18 mm, inferior vena cava diameter during inspiration of 18 mm, right ventricular systolic pressure of 29 mmHg, and E/e′ value of 15.1). The patient was referred for a surgical pericardial biopsy to elucidate the cause of his repeated pericardial effusion and to perform pericardial fenestration.
Thoracoscopic surgery was performed using a 3 cm incision through the 8th intercostal space. Thoracoscopic examination again revealed serous pleural effusion and multiple nodular opacities throughout the pleura and pericardium (Figures and ). A small incision was made on the pericardium (), taking care to preserve the left phrenic nerve, through which approximately 1200 mL of the effusion fluid was drained. We resected the pericardium largely of a 4 × 6 cm section using the Harmonic Scalpel® (Ethicon, US) and placed a drain in the left thoracic cavity.
Cytological examination of the pericardial biopsy sample was unremarkable; however, histopathological examination revealed inflammatory cell (mainly lymphocytes) infiltration and hyalinized fibrosis within the nodular tissue (Figures and ), consistent with a diagnosis of silicosis. Lastly, polymerase chain reaction (PCR) results were negative for tuberculosis.
The patient's fatigue was resolved after surgery, and he experienced no recurrence of pericardial effusion at the 7-month follow-up. |
pmc-6590579-1 | A 6-year-old male patient weighing 16.6 kg and with a height of 41 inches, from a rural location in Honduras, was evaluated by a pediatric surgeon. The subject presented with a history of two bilateral protruding masses in the inguinal-scrotal region that have grown bigger since birth. The mother denied past history of asthma or gastrointestinal symptoms such as diarrhea, melena, bloody stools, cramps, or pain, and the patient's bowel movements were normal. According to what was stated by the subject's mother, there was no family history of inguinal hernias. The patient comes from a setting with extreme poverty conditions. He had no history of previous surgical interventions.
During a physical examination, a bilateral inguinoscrotal mass was observed that grew bigger during the Valsalva maneuver. To palpation, masses were reducible with no tenderness. The right mass dimension was 3.1 inches × 1.5 inches and the left mass was 5.5 inches × 1.9 inches (as shown in ); testicular transillumination was negative. Bowel sounds were noticed through auscultation; however, as lab values were within normal parameters and setting conditions made it impossible to perform image studies, none was made.
Diagnostic challenges were encountered, including extreme poverty conditions and poor healthcare coverage, which made early diagnosis difficult.
Through physical examination, the patient was admitted for bilateral inguinal hernia routine surgery, most likely with visceral uncomplicated content of both hernias. Amyand's and Littre's hernias were diagnosed incidentally during surgery, after the content of both hernias were exposed.
Treatment was surgical, with bilateral hernia repair using an anterior approach. A transverse incision was made at each inguinal canal; Camper's, Scarpa's, and the external oblique fascia were dissected until the internal inguinal ring was exposed. The anterior hernial sac was grasped and secured, while the spermatic chord and the vas deferens were separated from the hernial sac. Afterwards, the hernial sac was pinched and dissected. Exploration of the right hernial sac was performed and was found to contain an MD. Its diameter was 1.3 cm (), which was posteriorly surgically inverted into the small intestine (). The left inguinal canal was also explored, with the cecal appendix being found inside the hernial sac. The cecal appendix was not inflamed, as can be seen in ; therefore, surgical inversion of the appendix into the colon was completed (). No complications were reported during this procedure and the patient was stable through recovery. |
pmc-6590593-1 | A 64-year-old, 87 kg female presented for clipping of a 4 mm wide neck unruptured saccular anterior communicating artery aneurysm which was discovered incidentally during the evaluation of headaches and memory difficulties. Her past medical history was significant for remote breast carcinoma, hypertension, obstructive sleep apnea, and gastroesophageal reflux disease. She was a lifelong nonsmoker and notable preoperative medications included aspirin, furosemide, and propanolol. Preoperative imaging had no evidence of prior infarcts. After induction of anesthesia, a right internal jugular central venous catheter and radial arterial catheter were placed and maintenance of anesthesia was performed with a combination of 0.5 MAC sevoflurane, propofol 50 mcg/kg/min, and remifentanil 0.125 mcg/kg/min infusions. Mannitol 1 gram per kilogram for a total of 80 grams was administered. The neurosurgeon placed an 80 cm closed-tip, barium impregnated lumbar drainage catheter with a 0.7 mm inner diameter (Medtronic USA, REF 46419) at the L3-4 level prior to the start of surgery.
The surgery commenced and was progressing unremarkably. Prior to opening of the dura, 20 mL of CSF was drained over 15 minutes per neurosurgeon request. After dural opening and during dissection of the aneurysm, the surgeon requested the lumbar drain to be opened allowing further drainage of CSF. After approximately 15 minutes, the blood pressure sharply increased over the course of 1 to 2 minutes from a baseline systolic blood pressure of 130 mmHg to over 205 mmHg with an associated decrease in heart rate from 60 bpm to 50 which resolved over the course of minutes. This acute hypertension was treated with a number of interventions including 250 mg propofol and 1 mcg/kg remifentanil boluses aimed at treating light anesthesia as well as a bolus of 7.5 mg labetalol. At the time of the hypertensive event, the propofol, remifentanil, and Sevoflurane dosing had been stable and unchanged for over an hour. There was also no change in the level of surgical stimulation at this time as the dura had been incised and the neurosurgeons were using the operative microscope to expose the aneurysm. After the aneurysm was successfully clipped, the lumbar drain was closed and the surgery was completed without further episodes of hypertension. A total of 60 mL of CSF was drained via the lumbar drain during the case in addition to the losses from the surgical field.
At conclusion of the operative procedure, the patient remained comatose and unresponsive despite an hour in the operating room awaiting emergence from anesthesia. A postoperative head CT was obtained prior to transport to the intensive care unit which demonstrated mild cerebral edema and borderline inferior transtentorial herniation, but no significant hemorrhage or focal abnormalities. She was then transported to the Neurocritical Care Unit intubated and ventilated. Initial arterial blood gas analysis on arrival to the ICU did not reveal a cause to her delayed emergence (pH 7.35, pCO2 47 mmHg, pO2 323 mmHg, glucose 204 mg/dL, and sodium 137 mEq/L). She did not receive any benzodiazepines during the case, but did receive 50 mcg of fentanyl on induction and 1 gram of levetiracetam in addition to the propofol, remifentanil, and Sevoflurane maintenance. Initial neurological exam demonstrated midline and equal 4 mm pupils which were reactive to light bilaterally. She withdrew to painful stimuli in all four extremities. On postoperative day (POD) 1, her mental status continued to be depressed with a Glasgow Coma Scale of 7T (E2:V1T:M4). That day, an MRI was obtained which revealed bilateral thalamic infarctions on the diffusion weighted imaging which can be seen in . Supportive care was continued and over the course of several days, her mental status slowly improved to GCS of 10 (E4:V1:M5) on POD 5. This allowed for safe extubation that day. She continued to improve and was alert and oriented to person, place, time, and situation with some memory and attention difficulties by POD 16. A timeline of her in-hospital recovery can be found in . She was discharged home with referrals for home physical, occupational, and speech therapy on POD 19. She continued her gradual neurological improvement and by over a year postoperatively, Neurology records indicated she was living independently and her Montreal Cognitive Assessment score had recovered to a normal 27/30. |
pmc-6590599-1 | A 27-year-old male, with Crouzon syndrome phenotype, visited the emergency department of a tertiary referral center, reporting multiple episodes of epistaxis in the past few days. The patient also reported nasal obstruction and impaired nasal breathing for the previous several months. Rest of the medical history was free. On clinical examination, a polypoid lesion protruding from the right nostril was noted. In addition, asymmetry of the face and projection of the ipsilateral canine fossa were evident.
Computed tomography of the paranasal sinuses showed an inhomogeneous soft-tissue mass, which completely occupied the right nasal cavity, maxillary sinus, and anterior and posterior ethmoidal cells. The lesion produced extensive bone remodeling of the right maxillary sinus with complete absence of its anterior wall, as well as erosion of the posterior wall and entry of the lesion in the pterygopalatine fossa. There was also erosion of the ipsilateral lower as well as median orbital wall, and entry of the lesion in the orbital cavity. Despite its large size, the lesion seemed to be well defined without invasive characteristics (Figures –).
Routine laboratory tests were within normal range. Preoperative maxillofacial consultation excluded pathology of odontogenic origin. The patient underwent a biopsy under local anesthesia, and the findings showed nonspecific inflammation. Open surgery under general anesthesia was undertaken via lateral rhinotomy and medial maxillectomy (). The maxillary sinus mucosa was completely replaced by inflammatory tissue simulating a benign mass. This mass was readily mobilized and dissected free from surrounding tissues within the orbit and pterygopalatine fossa, as no macroscopic invasion of any neighboring structures was noted. Histopathological examination revealed typical nasal polyposis with mixed population of eosinophils, neutrophils, and macrophages, with no evidence of fungal invasion (Figures –). Antibiotic and corticosteroid treatment was performed for a short period postoperatively. Local nasal mometasone furoate was used for 2 months after surgery. Intensive saline solution irrigations were additionally administered. There are no clinical/radiological signs or symptoms of recurrence 12 months postoperatively (Figures and ). |
pmc-6590605-1 | A previously healthy 89-year-old female presented to the emergency department complaining of midsternal chest discomfort that radiated to her back. Her chest discomfort began the day prior to presentation, but she initially attributed it to indigestion and thus waited to seek medical attention. Her chest pain persisted however, which prompted her to seek evaluation in the emergency department. Upon arrival, she was given aspirin with resolution of her symptoms. Laboratory analysis revealed an elevated troponin I level of 0.319 and initial creatine kinase (CK) of 12.7. Brain natriuretic peptide level on presentation was not checked. Electrocardiogram (ECG) was notable for diffuse T-wave inversions demonstrating inferior, as well as anterolateral ischemia, and a prolonged QTc of 503 ms (). Echocardiogram demonstrated moderate left ventricular dysfunction (ejection fraction of 35%-40%) with mid to distal anteroseptal, anterolateral, and apical akinesis (). The patient was taken to the catheterization suite and underwent emergent left heart catheterization. Angiography revealed 90% stenosis in the mid right coronary artery (RCA) which was believed to be the culprit lesion. There were no significant obstructive lesions noted in the left anterior descending or left circumflex arteries. She underwent percutaneous coronary intervention (PCI) with successful stent placement to the RCA (). She was then started on appropriate guideline-directed medical therapy and observed in the intensive care unit where her chest pain resolved. Repeat laboratory analysis revealed that CK had decreased to 6.4. ECG obtained following PCI revealed interval improvement of the inferior T-wave inversions, with sustained T-wave abnormalities in the anterolateral leads (). Cardiac magnetic resonance imaging is not available at our facility and was not performed. The remainder of her hospitalization proceeded without incident, and she was discharged home in stable condition three days later.
The patient was evaluated two weeks after discharge in an outpatient clinic and was feeling well. She again denied any stressors prior to the onset of pain but reported that the development of chest pain caused her a great deal of emotional distress. Repeat echocardiogram was obtained which revealed normal left ventricular systolic function (). |
pmc-6590609-1 | A 35-year-old male presented to a secondary healthcare center with shortness of breath and chest tightness. A chest X-ray was done and showed left pleural effusion. The pleural fluid was drained and sent to the Pathology Department for further analysis. It showed malignant cells. A CT scan of the chest was then requested and revealed a heterogeneous anterior mediastinal mass. In addition, a chest MRI was performed and it showed a well-defined, lobulated, and heterogeneous anterior mediastinal mass measuring 15.9 × 15 × 14.5 cm occupying the right hemithorax (). This mass was compressing the adjacent structures and causing compressive atelectasis of the anterior segment of the right upper lobe. However, the mediastinal mass did not show any signs of direct invasion. A scrotal ultrasound was performed, and it revealed bilateral varicocele; however, there was no evidence of testicular mass.
A Tru-Cut biopsy was performed, and histopathological examination showed features of an undifferentiated malignant tumor. Immunohistochemistry revealed the following profile: the tumor cells were strongly positive for AFP, vimentin, and OCT3/4 and focally positive for CD99, CK7, and p63. The tumor cells were negative for CD30, PLAP, TTF1, HCG, synaptophysin, chromogranin, WT1, and calretinin. The Ki-67 proliferation index was almost 80%. Overall, the appearances were consistent with a nonseminomatous germ cell tumor (NSGCT) in keeping with a yolk sac tumor.
The patient was referred to a tertiary healthcare center. Another chest MRI was performed and showed an increase in the tumor size to 21 × 19 × 15 cm. Four courses of VIP chemotherapy were given, and then a midline sternotomy with a resection of the large anterior mediastinal mass was done (). Postsurgery, the patient was stable symptom-wise and a chest X-ray revealed no signs of pneumothorax.
A 21 × 18 × 8 cm mediastinal mass weighing 2245 g was received in the lab for histopathological examination. The mass was encapsulated and nodular, with a greyish-white cut surface. Areas of necrosis, hemorrhage, and cystic spaces filled with mucoidal material were noted ().
Microscopic examination showed features of a malignant germ cell tumor consisting of differentiated and undifferentiated components. The differentiated component showed a mature teratoma composed of mature cartilage, bone trabeculae, smooth muscle fibers, and respiratory and gastric-type epithelia, while the undifferentiated component showed features of a yolk sac tumor containing hepatoid elements, proliferated sarcomatous spindle cells, and an increased mitotic rate (Figures –).
Immunohistochemistry demonstrated a strong focal positivity for desmin in the stromal spindle and pleomorphic cells. The Ki-67 proliferating index was 20% in glandular and stromal cells. S100 was strongly positive in cartilaginous and focal stromal components. The tumor cells were negative for CD30, CD34, and SMA. The overall histomorphological and immunohistochemical appearances confirmed the diagnosis of a nonseminomatous germ cell tumor with sarcomatous changes (teratocarcinoma).
Initially, blood investigations demonstrated elevated alpha-fetoprotein (AFP) at 18379.1 μg/L (N: 0-9 μg/L) and an elevated lactic dehydrogenase (LDH) at 399 U/L (N: 135-225 U/L). The patient's β-HCG level was normal. One month later, AFP increased to 19354.5 μg/L and LDH increased to 460 U/L. Testosterone was also measured and was found to be slightly elevated at 49.93 nmol/L (N: 9.1-40). After the administration of chemotherapy, AFP levels were reduced to 32 μg/L. After resection, the AFP level was at 0 μg/L and the patient continued to regularly follow up with the oncologists, with regular measurement of the AFP level in every visit. Up until eighteen months following the resection of the tumor, AFP remained at 0 μg/L. In addition, follow-up CT scan showed no residual tumor postresection (). |
pmc-6590612-1 | A 55-year-old male with no significant past medical history presented with a one-week history of nonproductive cough, dyspnea at rest, dysuria, and urinary frequency and urgency. He was diagnosed with a urinary tract infection (UTI) and a viral upper respiratory tract infection by his primary care physician two days prior and was prescribed ciprofloxacin. His symptoms did not improve so he decided to go to the emergency department (ED). Upon presentation, his oxygen saturation was noted to be 90%, with tachycardia and a low-grade fever. On exam, he had significant bibasilar crackles as well as a holosystolic apical murmur; additionally, he was found to have 2+ lower extremity edema and several punctuate macular lesions on his feet, highly suspicious for vascular emboli phenomena (). His laboratory studies demonstrated leukocytosis with neutrophilia (14.7 bil/L and 11.3 bil/L, respectively) and evidence of acute kidney injury. The urinalysis bacteriuria and leukocytes. A chest X-ray (CXR) was unremarkable. Blood and urine cultures were obtained, and he was empirically started on ceftriaxone. A transthoracic echocardiogram revealed a mobile mass on the posterior leaflet of the mitral valve consistent with a vegetation. Ejection fraction was calculated to be 40% (). Preliminary blood cultures reported gram-positive cocci in pairs and clusters. At day 3, AU was identified as the pathogen in both, blood and urine, cultures. The patient was then started on intravenous gentamicin and penicillin G with plans for a 6-week therapy. He was medically treated for acute heart failure with aggressive diuresis. At day 5, the patient received a transesophageal echocardiogram (TEE) which confirmed a “1.4 cm × 2.5 cm” vegetation attached to the posterior leaflet of mitral valve (), with severe mitral regurgitation and posterior leaflet perforation (). On day 8, the patient was acutely decompensated, and he was endotracheally intubated due to hypoxic respiratory failure and consequently underwent emergent prosthetic mitral valve replacement. He had a prolonged complicated postoperative period requiring mechanical ventilation, vasopressor support, and hemodialysis. Repeat blood cultures showed resolution of AU bacteremia. Finally, after 3 months, the patient was discharged to a subacute rehabilitation unit. |
pmc-6590615-1 | The patient involved was a healthy 28-year-old G1 at 18 weeks of gestation who consented for pregnancy termination via preparatory laminaria dilators and subsequent operative dilatation and evacuation for a confirmed, lethal diagnosis of Trisomy 18. Aside from an ultrasound-diagnosed lower uterine fibroid, her antenatal course was unremarkable and she had had a normal pelvic examination just prior to conceiving.
On preparation of the cervix for dilatation, a speculum exam revealed an obstructing 5-6cm fibroid protruding through the cervix into the vagina. The cervix itself was not visualized due to the size of the fibroid and its protrusion into the vagina. On bimanual exam, the internal os was closed around the fibroid, which appeared to arise from the level of the internal os of the cervix. In order to prepare the cervix for dilation, osmotic dilators were tucked around the fibroid within the cervix. After three hours, the internal os was a finger tip dilated with further ripening required. Rather than a sequential set of dilators which would be challenging to place and maintain around the fibroid due to angulation, a cervical Foley catheter was employed to ripen the cervix further. The intent was to allow proper placement of a dilator without increasing the risk of false passage creation.
Given the obstructive fibroid, the patient consented for a myomectomy prior to the evacuation, with the added, increased risk of hemorrhage. The possibility of an operative hysteroscopy was explained, as it would allow for removal of the stalk of the fibroid in its entirety, as well as cauterization of the base itself should it be required. Prior ultrasound had indicated that the fibroid was within the lower uterine segment, and the location of the base could not yet be identified.
The following day with the Foley having fallen out and under general anesthetic, examination revealed a sufficiently 3-4cm dilated cervix with the prolapsed fibroid now slightly recessed into the cervix due to the dilatation of the internal os. There was clear visualization of the fibroid stalk originating from within the endocervix (). To minimize blood loss intraoperatively, dilute vasopressin (8 units) with 1% lidocaine (20ml) was infiltrated as a paracervical block and at the base of the fibroid. The fibroid was grasped and transected at its base with cautery used to maintain hemostasis. With the obstruction cleared (), the remainder of the uterine evacuation was carried forth in the usual manner utilizing a 12mm suction curette. Sharp curettage confirmed that there was no fibroid base remaining. At the conclusion of the case, hemostasis was noted. The patient's postoperative course was uncomplicated. |
pmc-6590619-1 | A 7-year-old previously healthy girl (patient 1, family A) presented to a children's hospital in Houston, Texas, in the spring of 2017 (day 1) with symptomatic vivax malaria. On day 5, patient 2, the twin brother of patient 1, presented with symptomatic vivax malaria. Subsequently, on day 9, 15, 41, and 55, patient 3, patient 4, patient 5, and patient 6, respectively, sought medical care for the same diagnosis. Diagnoses were made via microscopic examination of blood smears in our institution's laboratories. summarizes demographic, clinical, and laboratory characteristics of the patients. The patients belong to 2 related families (families A and B; the fathers are brothers) who live in 2 different apartment units on the same floor of the same residential complex. Both families emigrated from the temperate Jowzjan province in Northern Afghanistan, a country where vivax malaria is endemic (70–95%), even at high altitudes []. Patients were treated in Afghanistan for symptomatic vivax malaria with presumed chloroquine but the exact dates of their treatment could not be recalled by the parents. None of the patients received primaquine in the past. Patients arrived in Houston between 6 and 10.5 months prior to presentation with symptomatic vivax infection (). Both families reported exposure to mosquitoes in Houston. The 6 patients were initially treated by emergency physicians with atovaquone/proguanil as malaria speciation was not readily available. Patient 5 had an unusual high parasitemia (5%) and had no further confirmation of her results. All patients completely recovered after treatment and received primaquine as a hypnozoite-eradicating treatment. |
pmc-6590730-1 | A 31-year-old male with a past medical history of mild intermittent asthma presented with a seven-month history of chronic pruritus with diffuse urticarial wheals (Figure ).
Allergy history for food, environment, and drugs was unremarkable. He underwent an extensive workup including complete blood count, basic metabolic panel, human immunodeficiency virus (HIV) testing, thyroid stimulating hormone, thyroid peroxidase antibodies, comprehensive stool panel, serum immunoglobulin E (IgE) level, and chest X-ray; all were unrevealing. He was initially treated empirically with cetirizine 5 mg daily without significant improvement. The cetirizine dose was subsequently increased to 10 mg with only minimal improvement. Ranitidine 150 mg twice daily was added but without much relief. A few weeks later, he complained of new onset of epigastric pain and was subsequently tested for H. pylori by stool antigen which resulted as positive. He was treated with bismuth subsalicylate, metronidazole, tetracycline, and omeprazole for two weeks. Pruritus and urticarial wheals disappeared four weeks after therapy was started (Figure ).
Repeat stool H. pylori was performed eight weeks after completing antibiotics and off omeprazole and confirmed eradication. The patient has had no recurrence of urticaria following treatment. |
pmc-6590731-1 | A 55-year-old female with past medical history of Crohn’s disease controlled with IV infusions of golimumab, a TNF alpha inhibitor, presents with years of worsening neck pain and left arm pain with associated numbness in a C6 distribution that is refractory to physical therapy and conservative therapy. She has been taking prednisone intermittently for years due to her Crohn’s disease. She complains of dropping objects with the left hand and having recent difficulties with balance. There is no associated lower extremity numbness nor bowel/bladder incontinence. She is taking methocarbamol on an as-needed basis for muscle spasms and gabapentin for neuropathic pain. On physical examination, she is full strength on all extremities with negative Hoffman’s sign and normal plantar flexion reflex. Spurling’s sign is absent and Lhermitte’s sign is negative. Cervical spine X-rays show kyphosis with an apex at C5, degenerative changes of the endplates and facet joints, and grade 2 anterolisthesis C4 on C5 with no abnormal motion with flexion/extension (Figure ). Magnetic resonance imaging (MRI) cervical spine showed a left-sided C5-6 extramedullary mass measuring 11 x 11 x 15 mm causing spinal cord compression and neural foraminal narrowing (Figure ). The mass exhibits hypointensity on T1-weighted images, hyperintensity on T2-weighted images, and homogenous peripheral enhancement.
Surgical approach
We planned for a C4-5 & C5-6 anterior cervical discectomy and fusion, C4-5 & C5-6 laminectomy for tumor resection, and C4-5 & C5-6 posterior fusion with instrumentation. The patient was first positioned supine on the operating room table and a right transverse cervical incision hidden in a skin fold in the neck centered at the cricoid cartilage was made. The C5-6 level was reached with a standard anterior cervical approach and confirmed with fluoroscopy. Caspar pins were placed for vertebral body distraction followed by discectomy and placement of an 8-mm Synthes Zero P standalone spacer (DePuy Synthes, Pennsylvania, USA) loaded with demineralized bone matrix allograft and autograft from drilling. The same steps were performed for the C4-5 interspace. The patient was then positioned prone in Mayfield pins for the posterior approach. Pilot holes for lateral mass screws were drilled prior to laminectomy so that the decompression does not interfere with posterior cervical landmarks. A complete laminectomy was made with a high-power drill (Medtronic, Minnesota, USA) at C5/C6 and a partial laminectomy was made at C4. There was a gray, fibrous and moderately vascular epidural mass arising from the left lateral spinal canal that was resected in piecemeal fashion. The mass was swept from the ventral side of the spinal dura and ventral to the C5 and C6 nerve roots. The trajectory for lateral mass screws was aimed 20 degrees lateral from perpendicular to the lateral mass and 30 degrees cephalad paralleling the facet joints. Six 14-mm screws (DePuy Synthes, Pennsylvania, USA) were placed at bilateral lateral masses from C4 to C6 followed by placement of custom rods that were locked and tightened. The lateral masses and facets were decorticated; autologous bone graft from the spinous processes and lamina was morselized and placed over the decorticated surfaces. Neurophysiologic monitoring of somatosensory-evoked potentials remained at baseline throughout the operation.
Pathology
The specimen was submitted in two parts, with multiple fragments of gray, smooth-surfaced, glistening semi-transparent soft tissue aggregating to 1.5 x 1.0 x 1.0 cm. Microscopic examination revealed lobules of hyaline cartilage surrounded by a periosteum layer (Figure ). There was focal hypercellularity and myxoid change, and high power revealed minimal cytologic atypia with minimal nuclear abnormalities, and few binucleated cells. Immunohistochemistry was positive for S100, and 3% of cells were positive for Ki-67 nuclear staining (Figure ). The findings were correlated with a musculoskeletal radiologist to confirm a diagnosis consistent with juxtacortical chondroma.
Postoperative course
Postoperative MRI showed gross total resection of the tumor (Figure ) and cervical x-rays showed screws and hardware in proper position with partial reduction of C4-5 anterolisthesis and partial reversal of cervical curvature (Figure ). The sagittal Cobb angle improved from +15 preoperatively to +7 postoperatively (Figure ). The C4 cephalad endplate and C6 caudal endplate were used to calculate Cobb angles. She remains neurologically intact with significantly improved left sided sharp radicular pain but has persistent left hand dysesthesia and left sided neck pain requiring relief with gabapentin and occasionally methocarbamol one year after surgery. Her balance and ambulation have improved. Follow-up MRI at one year showed no tumor recurrence. |
pmc-6590732-1 | A 12-year old boy, known case of hemophilia A, was brought to the emergency department (ED) of Dr. Ruth KM Pfau, Civil Hospital Karachi (CHK) in February 2019 with the complaint of swelling and pain in multiple joints along with intermittent fever for 13 days. Swelling initiated from the left elbow joint followed by a sudden, dull, aching pain, exacerbated by activity and associated with a limited range of movement. Seven days later, it was followed by a similar joint ache and swelling in the right elbow joint, then in the left knee joint, and, lastly, in the right shoulder joint. There was no history of any trauma to the joint. The patient also experienced high-grade fever, intermittent in nature, with severe joint ache, which was relieved by taking oral antipyretics.
Our patient had experienced similar episodes of joint ache occasionally since birth, and all of them were relieved by the injection of FVIII and transfusion of blood. He also had a history of occasional non-traumatic episodes of epistaxis and skin bruising since birth. Past surgical history revealed a difficulty in blood clotting after circumcision, which required medical management. The patient's vaccinations were up to date according to the expanded program of immunization (EPI). He is the first product of a consanguineous marriage, where the second product is a seven-year-old male with similar complaints as to our patient.
On examination (O/E), a young boy of average height and lean built was found oriented to time, place, and person with a Glasgow coma scale (GCS) of 15/15. His heart rate (HR) was 88 beats/min, blood pressure (BP) was 110/80 mmHg, respiratory rate (RR) was 20 breaths/min, and he was febrile (102°F), with no visible bruises. Upon locomotor examination (Table ), swelling with or without tenderness and restricted range of movement in the involved joints was noted (Figures -). All other systems were found unremarkable.
Upon history and physical examination, a diagnosis of hemophilia A with hemarthrosis and HA was suspected for which two pints of fresh frozen plasma (FFP) were transfused until FVIII was arranged. Injection Provas was given to relieve pain. Laboratory (lab) investigations were sent. Upon stabilization, the patient was transferred to the ward.
Lab investigations revealed hemoglobin (Hb) of 7.5 gm/dl, mean corpuscular volume (MCV) of 82 fl (Normal (N) = 76-96), mean corpuscular hemoglobin concentration (MCHC) of 33.2 gm/dl (N = 32-36), total leukocyte count (TLC) of 8.7 x 103/μL (N = 4-11), and platelet count (PLT) of 309 x 103/μL (N = 150-400). The level of C-reactive protein (CRP) was found to be 30.7 mg/L (N = <5). The clotting profile showed an international normalized ratio (INR) of 1.04, prothrombin time (PT) of 10.9 seconds and activated partial thromboplastin time (aPTT) of 29 seconds. FVIII levels were found to be less than 1%.
A radiologic examination of the right elbow, left elbow, and left knee showed Grades 1, 2, and 5 arthropathic changes, respectively, upon X-rays of the anteroposterior (AP) and lateral views. Therefore, a final diagnosis of severe hemophilia A with hemarthrosis and HA was made. FVIII was arranged and injected 1750 international units (IU) intravenous (I/V) on Day 1 followed by 700 IU I/V on Days 2, 3, and 5 with subsequent improvement in the patient’s condition. The further plan was to give FVIII on every alternate day till symptoms completely resolved.
The patient was counseled for regular follow-up after every three to four weeks, FVIII prophylaxis and at least 60 minutes of low-impact daily physical activity. He was also taught to immediately report to the emergency department (ED) in case of any joint swelling and pain, bruising, epistaxis, blood in urine or stool, severe headache, or weakness on any side of the body. |
pmc-6590853-1 | A 20-year-old male presented with a history of abdominal pain, diarrhea, and vomiting for six days along with fever for 10 days. The pain was gradual in onset, diffuse in nature, started in the epigastrium, migrated to the right hypochondrium, moderate in severity, aggravated by movement, and not completely relieved by analgesics. There were seven to eight episodes of loose stools per day, which were brown in color, soft in consistency, and often foul smelling. There were two to three episodes of vomiting per day; the vomitus was green in color, a cupful in quantity, often preceded by food intake. The fever was high grade, documented up to 103⁰ F, occurred 10 days before presentation, and followed a step-ladder pattern. On examination, there was visible pallor with tachycardia (pulse 115 beats/minute) and tachypnoea (respiratory rate of 18 breaths/minute); blood pressure was 110/60 mmHg; and temperature was 101⁰ F. On abdominal examination, the umbilicus was everted, the abdomen was distended, abdominal guarding was present with board-like rigidity, and maximum tenderness was at the right iliac fossa. Bowel sounds were sluggish, and digital rectal examination (DRE) was unremarkable. Hemoglobin was 11 g/dL, platelet count was 170,000 /µL, and white blood cell (WBC) count was 1650/µL (neutrophils 60%, lymphocytes 24%). Peripheral smear showed normocytic, normochromic red blood cells with severe leukopenia. Liver function test, renal function test, serum electrolytes, serum albumin, and coagulation profile were in the normal range. The typhoid test (both IgG and IgM) was highly positive for Salmonella typhi. Complete urine examination was unremarkable. Chest X-ray showed no air under the diaphragm and an erect abdominal radiograph showed no air fluid levels (Figure ). Abdominal ultrasonography demonstrated minimal to mild abdominopelvic ascites.
After resuscitation, the patient was explored by a midline incision. The peritoneal cavity was containing 200 ml of bilious fluid and there were multiple flakes on the bowel loops. On further exploration, there were multiple perforations in the gallbladder of variable sizes (approximately 1-2 cm in size) (Figure ).
No gall stones in the gall bladder, cystic duct, common bile duct, or peritoneal cavity were found. Cholecystectomy was done and the pelvic drain was placed after thorough peritoneal lavage. Postoperatively, intravenous ceftriaxone and gentamicin were administered for one week. There was uneventful recovery, and the patient was discharged on the eighth postoperative day. |
pmc-6590854-1 | The patient is a 70-year-old male veteran with a history of metastatic prostate cancer and diffuse metastases throughout his spine, including large vertebral metastases from L2-L5 with resultant pathologic fractures at these levels. His life-expectancy was estimated to be 6-12 months. He presented with severe axial low back and groin pain. He notably denied lower extremity radiculopathy or symptoms of neurogenic claudication, and his sensorimotor exam was normal. He was initially treated with radiation therapy, which provided relief of his groin pain without any significant effect on his low back pain. He subsequently underwent vertebroplasty to L2, L3, and L4 with partial relief of symptoms. The L5 vertebral body was not a suitable target for vertebroplasty, as the fracture at that level resulted in violation of the posterior vertebral body wall (Figure ). He continued to have load- and movement-dependent low back pain that limited his mobility, required opiates to control, and negatively impacted his quality of life. Lumbrosacral orthosis mildly but incompletely improved his pain.
In the context of persistent low back pain and the contraindication to vertebroplasty of an L5 pathologic fracture, it was felt that the patient would benefit from L4-S1 fixation. The primary goal of this operation was to provide symptomatic relief of axial low back pain while minimizing operative morbidity and recovery time. Thus, the patient elected to undergo image-guided percutaneous pedicle screw instrumentation and internal fixation. Due to the co-existence of osteoporosis and overall poor bone quality secondary to diffuse spinal metastases, the decision was made to perform PMMA-augmentation of the fusion construct.
Percutaneous pedicle screw placement at L4 and S1 was performed with the assistance of an O-arm and a StealthStation S7 Surgical Navigation System (Medtronic, Inc. Minneapolis, MN. USA). A percutaneous image-guidance reference pin was placed into the right iliac crest, and the O-arm was subsequently used to obtain images for navigation. Using the Stealth Navigation System, starting points for the L4 screws were identified, and stab incisions were made approximately 4.5 cm lateral to the midline. Using a guidewire-based technique, 6.5 mm x 45 mm CD Horizon Solera fenestrated pedicle screws (Medtronic, Inc.) were placed into the bilateral L4 pedicles. Using the same operative technique, 6.5 mm x 45 mm fenestrated Solera pedicle screws were placed into the bilateral S1 pedicles.
Driver shafts were then re-threaded into each of the screw tulip heads. A kyphoplasty needle was inserted into each of the driver shafts and 1.5 cc of Kyphon Xpede (PMMA) Bone Cement (Medtronic, Inc.) was injected through each fenestrated pedicle screws under lateral fluoroscopic guidance. A 3.5 mm x 90 mm lordotic rod was then passed between the tulip heads of the pedicle screws via the L4 incision, reduced into the tulip heads, and secured with set screws. Final antero-posterior and lateral X-rays confirmed optimal placement of this percutaneously placed, PMMA-augmented fusion construct (Figure ).
On post-operative day one, the patient’s axial low back pain had improved substantially, his sensorimotor exam remained intact, and he was discharged to home. Plain films of the lumbosacral spine obtained at two-week follow up revealed an intact lumbosacral instrumented construct (Figure ). |
pmc-6590855-1 | A 29-year-old Hispanic woman presented to our emergency department (ED) with recurrent episodes of angina at rest for four days. Each episode lasted less than five minutes and resolved spontaneously. The last episode occurred early in the morning on the day of presentation, radiated to the left arm and was associated with diaphoresis. Her past medical history was significant for asthma, allergic rhinitis, eczema and vasospastic angina for which she had been admitted to the hospital on two prior occasions. On her first hospitalization, she had a non-ST elevation myocardial infarction with diffuse ST segment depressions on electrocardiogram (ECG) (Figure ), evidence of left anterior descending artery spasm on coronary angiogram that resolved with intracoronary nitroglycerin (Figure ). During that hospitalization, she reported recurrence of chest discomfort with bradycardia, hypotension and went into pulseless electrical activity (PEA) cardiac arrest, from which she was successfully resuscitated and was discharged on medical therapy with amlodipine and isosorbide mononitrate. During her second hospitalization, she presented with inferior ST segment elevations associated with high-grade AV block (Figure ), complicated by cardiogenic shock requiring vasopressors and temporary transcutaneous pacing. She recovered again with medical therapy, amlodipine was switched to diltiazem and the dose of her nitrate was up-titrated, after which she was discharged home. Transthoracic echocardiography (TTE) at the time of discharge demonstrated normal ejection fraction (EF) with no regional wall motion abnormality and she continued to do well until her current presentation. During both prior hospitalizations, her eosinophil count was elevated to >500 cells/uL (reference range [ref]: 0-400 cells/uL), while on one occasion it was >1500 cells/uL. At baseline, between the hospitalizations, her eosinophil count was normal.
In the ED during current presentation, she was initially well appearing and exam was unremarkable except for tachycardia. Her vital signs were: temperature of 36.7°C, heart rate of 104 beats per minute, respiratory rate of 18 per minute, blood pressure of 98/67 mm of mercury (Hg). Her initial laboratory tests were remarkable for elevated eosinophil count of 1500 cells/uL (reference range [ref]: 0-400 cells/uL) and an elevated troponin of 0.204 ng/ml (ref: 0-0.039 ng/ml). ECG (Figure ) demonstrated sinus tachycardia with diffuse ST segment depression <0.5 mm. Chest X-ray was unremarkable. After initial assessment in ED, she developed recurrence of chest pain and telemetry revealed complete heart block with junctional escape rhythm at a rate of 30-40 beats per minute. Repeat ECG revealed diffuse ST depression of 1 mm (Figure ). She was initiated on transcutaneous pacing. However, her mental status worsened, she developed hypotension, hypoxemia followed by a PEA arrest. She had return of spontaneous circulation after five minutes of cardiopulmonary resuscitation. She was intubated, sedated and placed on mechanical ventilation. Intravenous nitroglycerin drip was then initiated and she was admitted to the cardiac intensive care unit. After initial response to conservative management, she again developed worsening bradycardia, hypotension and was taken for urgent coronary angiogram. There was evidence of severe diffuse spasm in the distal left circumflex artery (LCX), ostial obtuse marginal, ostial right coronary artery (RCA) and total occlusion of proximal right posterior descending artery as shown in images (Figure ). Peripheral angiogram also revealed diffuse spasm in the right common femoral artery and right external iliac artery with sluggish flow (Figure ). High doses of intracoronary nitroglycerin (1500 mcg) and verapamil (800 mcg) were administered. In addition, due to concern for thrombus and allergic vasospasm, intracoronary abciximab and intravenous hydrocortisone were also administered. Eventually, the coronary spasm resolved with normalization of flow (Figure ). Due to persistent hypotension, intra-aortic balloon pump (IABP) was placed through left common femoral artery and intravenous heparin drip was initiated, following which her hypotension improved. Subsequent, TTE demonstrated severely reduced left ventricle (LV) ejection fraction (EF) of 20-25%, normal size, normal thickness, akinesis of entire inferior myocardium and reduction in right ventricular (RV) systolic function. Repeat troponin peaked at 259 ng/ml (ref: 0-0.039 ng/ml) suggesting that patient sustained infarction of large myocardial territory due to coronary spasm.
In the following hours she developed worsening tachycardia, dyspnea and oliguria. She was initiated on dobutamine drip for cardiogenic shock. A Swan-Ganz pulmonary artery catheter was placed which revealed cardiac index of 1.8 L/minute/1.73 m2, elevated systemic vascular resistance of 2155 dyne s/cm5, elevated mean pulmonary artery pressure of 34 mm Hg, elevated pulmonary capillary wedge pressure (PCWP) of 25 mm Hg and low mixed venous oxygen saturation (mVO2) of 48%. Her history of asthma, allergic rhinitis, and eczema raised concern for allergic-mediated coronary vasospasm as the underlying etiology of her presentation. A preliminary diagnosis of type 1 Kounis syndrome with cardiogenic shock was made and she was initiated on intravenous methyl-prednisone at 125 mg followed by 60 mg every day, intravenous hydroxyzine 10 mg every four hours and intravenous famotidine 20 mg every 12 hours.
The inotropes and vasodilators were carefully titrated to maintain central venous pressure (CVP) of 8-12 mmHg, cardiac index of >2.1 L/minute/1.73 m2, systemic vascular resistance of 800-1200 dynes/cm5 and mVO2 > 65%. Repeat ECG revealed ectopic atrial tachycardia and dobutamine was switched to milrinone. She had a fever spike to 38.3°C on day two. Workup for infectious etiology was sent and broad-spectrum antibiotics were initiated. Her hemodynamics improved on supportive care with intravenous nitroglycerin, milrinone and IABP. Repeat TTE on day three showed LV EF of 15-20% and a 6 × 10 mm mass in the LV apex consistent with thrombus (Figure ). The patient was already on therapeutic anticoagulation with intravenous heparin given IABP. Broad spectrum antibiotics were discontinued on day four after infectious workup was negative. Intravenous methylprednisolone was tapered down gradually and she was switched to oral prednisone, hydroxyzine and famotidine by day five. IABP was removed on day six and she was weaned off milrinone. Subsequent cardiac magnetic resonance imaging (cMRI) with contrast, demonstrated moderate diffuse hypokinesis of the left ventricle, normal size, normal thickness and an EF of 39%. There was diffuse subendocardial late gadolinium enhancement (LGE) of nearly the entire LV myocardium, involving approximately 50% of wall thickness (Figure ). In addition, there was evidence of transmural LGE in the infero-lateral wall and infero-septal wall, with hypo-intensity of T1 post contrast images, consistent with acute infarct in the RCA and LCX territory. Supplemental T2 black blood sequences revealed subtle diffuse hyperintensity throughout the left ventricular myocardium, consistent with diffuse myocardial edema. A 6 × 9 mm apical LV thrombus was re-demonstrated.
Eosinophilic myocarditis was suspected given eosinophilia and cMRI findings. However, endomyocardial biopsy was deferred due to significant clinical improvement with steroids, anti-histamines, and high risk of peri-procedural complications. Her auto-immune panel was negative. Serum tryptase level was elevated to 18 ng/ml (ref: < 11.4 ng/ml) at the time of severe vasospasm which normalized following initiation on anti-histamines. Urinary N-methyl histamine level was elevated to 415 mcg/g Cr (ref: 30-200 mcg/g) and urinary prostaglandin D2 was elevated to 637 ng/L (ref: 100-280 ng/L). Her in vitro specific IgE were positive for cat, dog and mouse. Serology was negative for anti-neutrophil cytoplasmic auto-antibodies (ANCA). Workup for etiology of eosinophilia was negative for secondary parasitic infection with normal myeloid molecular profile. Her final diagnosis was refractory coronary vasospasm secondary to type 1 Kounis syndrome complicated by eosinophilic myocarditis. TTE at the time of discharge revealed an improved EF of 40%. She was discharged on day 21 with amlodipine, isosorbide dinitrate, prednisone, anti-histamines, montelukast. She continued to do well as an outpatient with repeat TTE at three months demonstrating an EF of 40%. Her prednisone dose was gradually tapered from 60 mg daily to 20 mg daily with normalization of eosinophil count. |
pmc-6590857-1 | A 30-year-old Hispanic female referred to our clinic with the history of chronic low back pain for the last two years. She mentioned that she has been suffering from pain in her back during her second peripartum period which never resolved. During her first pregnancy, she had this pain, but it resolved after delivery. Both of her pregnancies were normal vaginal deliveries without any complications five years apart. Now her pain is mostly in the lower lumbosacral area, sharp in character, 10/10 in intensity intermittently. It gets aggravated by lifting heavy weights or doing household chores and relieved by taking rest. She was taking ibuprofen and cyclobenzaprine as needed, with symptomatic relief. She denied any joint stiffness, swelling, deformity, no skin rash, no eye, and bowel symptoms. She denied any weight loss. Physical examination was normal. Faber’s /Patrick’s test (flexion, abduction, external rotation of hip) was non-revealing. Straight leg raising test and Schober’s test were normal. X-ray of her back showed significant sclerosis at the iliac border of SIJs (Figure ). Several other tests were performed to exclude inflammatory and other pathologies (Table ). No other sources of inflammation were identified. She had physical therapy for six weeks and was recommended to continue exercises at home. She was also prescribed Ibuprofen and cyclobenzaprine as needed at the same time. She had significant improvement in her symptoms in three months with minimal usage of Ibuprofen and completely stopped cyclobenzaprine. |
pmc-6590859-1 | Case 1 presentation
The patient is a 66-year-old Caucasian male with a past medical history of depression who was brought by the Emergency Medical Services (EMS) after being found down with impaired consciousness in cold temperatures. He was not able to verbalize any complaints.
On physical examination his vital signs were as follows: rectal temperature was 28.5 °C, heart rate 74 beats per minute (bpm), respiratory rate 16 breaths per minute (breaths/min), and blood pressure 130/79 mmHg. At presentation, his Glasgow Coma Scale score was 10/15 (Eye response (E) 4, Verbal response (V) 2, Motor response (M) 4) and was able to protect his airway. Cardiac examination showed rhythmic heart sounds, regular and without murmur; lungs were clear to auscultation. Abdominal examination showed no bowel sounds on auscultation. His skin was extremely cool, pale and moist; peripheral pulses were not palpable. The rest of the examination was unremarkable.
Initial laboratory tests were as: blood gas analysis demonstrated metabolic and respiratory acidosis with the following reading; pH 7.212; partial pressure carbon dioxide (pCO2) 48.5 mmHg; partial pressure of oxygen (pO2) 73.7 mmHg; bicarbonate (HCO3) 19 mmHg on non-rebreather mask at 15 liter per minute (L/min); creatine kinase 811 units per liter (U/L), troponin 0.05 ng/mL, lactic acid 2.4 mmol/L, international normalized ratio (INR) 1.5, activated partial thromboplastin time (APTT) 39.6 seconds (sec), prothrombin time (PT) 17.3 sec, aspartate aminotransferase (AST) 56 U/L, alanine aminotransferase (ALT) 47 U/L, glucose 145 mg/dL. Urine drug screening was negative to any substances and alcohol level was <10 mg/dL. Initial electrocardiogram (EKG) showed a wide QRS rhythm, rightward axis, non-specific intra-ventricular conduction block. Initial chest x-ray showed diffuse bilateral heterogenous opacities consistent with pulmonary edema.
The patient was diagnosed with severe hypothermia and was subsequently started on slow controlled re-warming therapy with Arctic Sun (Bard temperature management system) with success returning to a normal temperature within the next day with an improvement of his mentation. The next day he developed shortness of breath and increased oxygen requirements, chest X-ray was done and showed worsening pulmonary edema, pro-brain natriuretic peptide (pro-BNP) was 2,776 pg/mL and troponins trended up to 0.10 ng/mL. He subsequently had echocardiogram which showed severely reduced left ventricular systolic function, with estimated ejection fraction (EF) <20%; severe global hypokinesis and akinetic apex occupied by 2 layers of large thrombi (3.7 x 2.5 cm and 1.2 x 4.8 cm) (Figure ).
Outcome and Follow-up
The patient was started on anticoagulation with heparin and transitioned to warfarin. After 7 days of anticoagulation, the patient developed large gastrointestinal bleeding leading hypovolemic shock secondary to a bleeding duodenal ulcer and anticoagulation was stopped. Through the rest of the hospital stay, the patient had several episodes of gastrointestinal bleeding and he made the decision not to continue with more treatment for gastrointestinal bleeding and died after 18 days of hospitalization secondary to hypovolemic shock. |
pmc-6590859-2 | Case 2 presentation
The patient is a 62-year-old African American male with an unknown past medical history who was brought by EMS after being found down at his home without heat by his neighbor.
On physical examination, his vital signs were: rectal temperature was 28.5 °C, heart rate 94 bpm, respiratory rate 22 breaths/min, and blood pressure 170/100 mmHg. On presentation, his Glasgow Coma Scale was 8 (E4 V1 M3). He was found to be non-responding verbally, pupils were reactive to light, lungs clear to auscultation, the heart had regular rate and rhythm. He was intubated in the emergency department.
Initial laboratory with blood gas analysis showed a metabolic and respiratory acidosis with the following pH 7.103; pCO2 65.6 mmHg; pO2 514.9 mmHg; HCO3 20.0 mmHg on the following ventilator settings: tidal volume 450 mL, respiratory rate 18 breaths/min, fraction of inspired oxygen (FiO2) 100% and positive end-expiratory pressure (PEEP) of 5 cmH2O. Other laboratory findings were the following: sodium 165 mmol/L, potassium 3.0 mmol/L, chloride 122 mmol/L, carbon dioxide (CO2) 18 mmol/L, glucose 182 mg/dL, blood urea nitrogen (BUN) 86 mg/dL, creatinine 1.83 mg/dL, AST 92 U/L, ALT 56 U/L, lipase 300 U/L, creatinine kinase 1,661 U/L, troponin 0.02 ng/mL, white blood cell count (WBC) 29.50 x 103 cmm, hemoglobin 5.4 g/dL, platelets 225 x 103 cmm, PT 17 sec, INR 1.5, APTT 36.4 sec, lactic acid 6.3 mmol/L. Urine drug screening was negative for any substances and alcohol level was <10 mg/dL. Initial EKG showed atrial fibrillation with premature ventricular complexes, left axis deviation, lateral injury pattern. Initial chest x-ray showed diffuse opacities on bilateral lung fields consistent with aspiration pneumonitis or infection.
The patient was admitted to the Intensive Care Unit (ICU) for rewarming with IV fluids and Bair Hugger (3M temperature management system). He developed multifactorial shock and was started on vasopressors, blood transfusion, and antibiotics. An echocardiogram was done 2 days after admission for shock investigation which demonstrated moderate left ventricular hypertrophy, anteroseptal and anterior akinesis with global hypokinesis, ejection fraction 25% with suspicion of apical thrombus and left atrial enlargement (Figure ).
Outcome and Follow-up
The patient was later started on anticoagulation after anemia resolved but anticoagulation was later held as he developed a psoas hematoma. He had 2 subsequent echocardiograms including a transesophageal echocardiogram during hospitalization that were concerning for apical thrombus. The patient was later discharged to a nursing home facility after 80 days of hospitalization with multiple complications. |
pmc-6590862-1 | We present a 65-year-old man from Morocco with no significant medical history, a non smoker, who presented initially with a complaint of left-sided facial pain and frontotemporal headaches associated with diplopia for one month. Review of his system was positive also for nasal stuffiness, weight loss, and intermittent epistaxis. The patient reported being treated in the past empirically for presumed sinusitis, with no significant relief. On examination, a left eye lateral gaze paralysis was noted; otherwise the rest of the physical exam was reported with no alterations. A maxillofacial computed tomography (CT) scan revealed complete opacification of the left ethmoid, sphenoid, maxillary and frontal sinus with osseous erosion of cribriform plate, as can be seen in Figures -. Brain and orbits magnetic resonance imaging (MRI) demonstrated a destructive sinonasal malignancy with extension into the bilateral orbits and showing inferior components seen adherent to either side of the nasal septum with intracranial extension, as can be perceived in Figures -. An MRI soft tissue of the neck revealed the mass destroying the hard palate of the maxilla and extending into the bilateral ethmoidal sinuses, maxillary sinuses, anterior walls of the sphenoid sinuses as well as medial walls of the bilateral orbits, deviating the medial recti medially and extending intracranially into the anterior cranial fossa through the cribriform plate.
Positron emission tomography (PET) scan was performed demonstrating bilateral involvement of ethmoidal and sphenoidal sinuses, with intracranial bifrontal parafalcine extension. No signs of lymph node involvement were shown on the PET scan. He underwent Functional Endoscopic Sinus Surgery with debulking of the nasal mass. Pathology was amended as moderately differentiated squamous cell carcinoma, invasive to the bone, arising within sinonasal papilloma showing inverted and exophytic features, as can be seen in Figures -. Based on the clinical and histopathological features, the disease was classified as T4bM0, locally advanced sinus SCC. Due to the extension of the disease, surgery was not warranted. The patient was started on induction chemotherapy with docetaxel, cisplatin, and fluorouracil with good tolerance and resulting in resolution of the facial palsy. Repeated images revealed a subsequent interval decrease in the overall size of the tumor, but significant persistent disease with continuous invasion into the adjacent brain parenchyma. Although not enough data to support treatment is available, the strategy now is to continue concurrent chemotherapy and radiotherapy. |
pmc-6590863-1 | History
A 27-year-old Caucasian male presented to the emergency department with an open right tibia and fibula shaft fractures following a high-speed motorcycle crash. The patient was helmeted at the time of the crash and there was no reported loss of consciousness. He reported isolated right lower extremity pain without neurologic complaints.
Exam and diagnostics
This was an isolated injury with no clinical or radiographic evidence of intracranial, -thoracic, -abdominal, or -pelvic injury. A FAST exam (Focused Assessment with Sonography in Trauma) was performed prior to our orthopaedic exam, which demonstrated no signs of hemorrhage.
Inspection of the right lower extremity revealed two large wounds to the anterolateral and anteromedial tibial diaphysis. The anterolateral and anteromedial wounds measured approximately 20 cm and 12 cm in length, respectively. Both wounds exhibited gross contamination with road debris as well as exposed muscle and fracture fragments (Figure ). There was no clinical evidence of compartment syndrome. There were no sensory or motor deficits involving the superficial peroneal, deep peroneal, or tibial nerves. A strong dorsalis pedis pulse was palpable, however the posterior tibial pulse was unidentifiable on palpation or Doppler ultrasound. A computed tomography (CT) angiogram was obtained which demonstrated vascular stenosis of the posterior tibial artery at the level of the fracture. All hematologic and metabolic labs were within normal ranges.
Time from the emergency department to the initial operative encounter
Dual antibiotic prophylaxis, consisting of cefazolin and gentamycin, was administered promptly upon arrival to the emergency department. Antibiotic administration was estimated to be within three hours from the time of injury. A brief bedside irrigation with 3 L of sterile saline was performed and the wounds were dressed with moist gauze. The patient was then provisionally stabilized with a moldable long leg fiberglass splint and sent for additional preoperative imaging. Preoperative radiographs are provided in Figure -. After imaging was completed, the patient was brought to the operating room for urgent wound debridement and open reduction internal fixation of the right lower extremity.
Initial operative encounter
The patient was placed under general anesthesia. A thigh high tourniquet was placed prior to the sterile preparation and draping of the surgical field. Gross wound contaminants were removed sharply including all devitalized bone. The superficial and deep peroneal nerves were identified and found to be grossly uninjured. Nine liters of sterile saline was then used to irrigate the wound. Next, the segmental tibia fracture was provisionally stabilized with multiple one-third tubular plates and unicortical 3.5 mm screws. A reamed intramedullary tibia nail was then introduced via a suprapatellar approach. Once in place, multiple cerclage wires were applied for further stabilization of large fracture fragments (Figure ). An additional 3 L of sterile saline was used to irrigate the wounds. Once complete, all wounds were left open and a circumferential VeraFlo (Acelity, San Antonio, TX, USA) wound vac was applied (Figure -). See technique described below. Postoperative radiographs are provided in Figure .
Circumferential wound vac technique
The anterolateral and medial wounds were lined with one inch adhesive draping strips. The wounds were then lightly packed with Cleans Choice sponge (Acelity, San Antonio, TX, USA) and sealed with adhesive drapes. Cleans choice sponge was placed directly over exposed bone and hardware. When sealing the sponge, care was taken to lay drapes over the skin with minimal skin tension. Once sealed, instillation was set at a volume of 50 mL, at 10-minute soak times, cycled every three hours. Suction was set at -125 mmHg. Instillation consisted of Prontosan Irrigation Solution (B. Braun Medical Inc., Bethlehem, PA, USA) for three days followed by sterile saline for an additional four days. This allowed for a total of seven days of NPWT-id between wound vac exchanges. Next, one-inch adhesive strips were used to line the proximal and distal tibia circumferentially. Negative pressure sponge dressing was then applied circumferentially within this region and sealed with adhesive drapes. Again, care was taken to create as little tension on the skin when sealing the wound vac sponge. Once sealed, suction was set at continuous -125 mmHg.
Hospital course
Postoperatively the patient received 72 hours of intravenous cefazolin. Prophylactic anticoagulation was started on postoperative day one and continued until 24 hours prior to each subsequent return to the operating room. The patient performed daily physical and occupational therapy. The right lower extremity was restricted to partial weight bearing. However, no range of motion restrictions was implemented.
The patient returned to the operating room two additional times for a total of three wound debridements and two wound vac exchanges prior to flap placement. Each wound vac exchange consisted of the same circumferential application and instillation and dwell settings as previously described. Time between each return to the operating room was on average seven days (i.e., hospital day one, eight, fifteen). During the first repeat wound debridement (hospital day eight), we excised a necrotic skin bridge separating the anterolateral and medial wounds. The single wound consequently measured roughly 20 cm x 20 cm at its longest and widest points. Assessment of the wound each week demonstrated progressive wound bed granulation and a decrease in overall wound size. More importantly at no time point was there concern for superficial or deep wound infection. This included physical (e.g., erythema, malodor, gross purulence) and hematologic (e.g., rising white blood cell count, sedimentation rate, C-reactive protein) signs. At three weeks from the initial injury (i.e., hospital day 22), the patient returned to the operating room for placement of an anterolateral thigh (ALT) free flap. The size of the flap measured approximately 15 cm x 10 cm. Postoperatively the patient remained in the hospital for seven days for flap monitoring. Outpatient follow-up ensued at six weeks, three and six months, and one year. At the one-year follow-up there was complete healing of the fracture site and ALT flap (Figure and Figure -). |
pmc-6590864-1 | A 40-one-year-old morbidly obese (body mass index 57.5 kilograms/square meter) female patient presented to our emergency room with worsening epigastric abdominal pain and fever of eight days duration. The liver function test was mildly elevated. MRCP revealed the dilation of the common bile duct with an abrupt truncation of the distal common bile duct consistent with choledocholithiasis. ERCP with the extraction of multiple stones and stent placement was performed. During laparoscopic cholecystectomy, hard areas were felt in the cystic duct and were presumed to be stones. The stent came into view when a small incision was made in the cystic duct to retrieve the presumed stones and a common bile duct (CBD) injury was suspected (Figure ).
Dissection of the gall bladder off the liver bed was not fruitful in defining anatomy with absolute certainty. The gall bladder was opened to visualize the cystic duct internal opening. The stent appeared to terminate in the gall bladder and an intraoperative cholangiogram was felt not to be needed at this point (Figure ).
The stent was retrieved and cholecystectomy completed. |
pmc-6590866-1 | The patient is a 55-year-old Caucasian male, with a past medical history significant for Crohn’s disease status post total colectomy with end ileostomy several years prior, on mesalamine therapy, chronic osteomyelitis on suppressive therapy with doxycycline, and end-stage renal disease on hemodialysis, who initially presented to the emergency department with symptoms of increased ostomy output, crampy abdominal pain, nausea, dizziness, and generalized weakness. His symptoms began 48 hours prior to presentation while undergoing hemodialysis. Vital signs on arrival were notable for a temperature of 36.7°C, heart rate of 100 beats per minute, and blood pressure of 70/50 mmHg. On physical exam, the patient’s abdomen was diffusely tender to palpation without peritoneal signs. The ileostomy was viable with a small amount of fluid noted in the ostomy bag. Laboratory examination revealed a white blood cell (WBC) count of 10,900 cells/mm3, hemoglobin of 14 g/dL, platelet count of 695,000 platelets/mm3, and serum lactate of 2.2 mg/dL. Blood cultures were obtained in the emergency department, which showed no growth. Stool studies from the patient’s stoma output were significant for C. difficile. The patient was treated with intravenous normal saline and was started on oral metronidazole for CDI. The patient’s ostomy output subsequently improved and once he was hemodynamically stable, he was discharged with a prescription of oral metronidazole for a total of 10 days of antibiotic therapy.
Three months later, the patient returned to the emergency department with a four-day history of increasing ostomy output with watery stools, epigastric abdominal pain, loss of appetite, and generalized weakness. One month prior to presentation, the patient had hip surgery and completed a 10-day course of doxycycline. Vital signs on arrival were notable for a temperature of 36.2°C, heart rate of 95 beats per minute, and blood pressure of 101/71 mmHg. On physical exam, his abdomen was tender to palpation in the epigastric region without peritoneal signs. The laboratory examination revealed a white blood cell count of 14,200 cells/mm3, hemoglobin of 10.2 g/dL, and a platelet count of 919,000 platelets/mm3. Inflammatory markers were also found to be elevated (C-reactive protein (CRP) 14.7 mg/L, estimated sedimentation rate (ESR) >130 mm/hr). A computed tomography (CT) abdomen and pelvis with oral contrast showed bowel thickening with minimal stranding, suggestive of enteritis along with enlarged peritoneal lymph nodes (Figure ). Stool studies were positive for C. difficile and lactoferrin. The patient was started on oral vancomycin on which he subsequently improved. He was discharged to complete a 12-week course of antibiotic therapy. |
pmc-6591178-1 | A 51-year-old male presented with yellow discoloration of skin, previously healthy, back pain, and weight loss for 1 month. He had no history of asbestos exposure. Laboratory tests of liver function revealed [alanine transaminase (ALT), 244 U/L (range 9–50); aspartate transaminase (AST), 159 U/L (range 15–40); alkaline phosphatase (ALP), 637 U/L (range 45–125); total bilirubin (TBIL), 139.9 μmol/L(range 1.71–17.1); direct bilirubin (DBIL), 119.4 μmol/L (range 0–5.1)]. The patient’s serum carcinoembryonic antigen (CEA) level and CA19-9 level was normal. No abnormality was observed on chest X-ray examination. Abdominal post-contrast CT scan revealed an irregular, lobulated mass (maximum cross-section, 7.8 × 6.8 cm) in the head of the pancreas. The tumor enhancement was heterogeneous with indistinct boundaries, and the common bile duct and duodenum were involved. The tumor was adjacent to the portal vein, the superior mesenteric vein, the inferior vena cava, and the right renal vein. No enlarged lymph nodes were observed in the pelvic cavity, retroperitoneum, or bilateral inguinal region (Fig. ). An ultrasound-guided fine-needle aspiration biopsy of the pancreatic tumor was performed (Fig. ). Histologically, the tumor consisted of spindle cells, and numerous mitotic figures were evident. Immunohistochemical staining revealed that the tumor cells were positive for calretinin, D2-40, AE1/AE3, CK18, Vim, SMA, and MC; however, they were negative for CD34, CD117, CK5/6, CK7, CEA, DOG1, desmin, S100, WT1, and Ki-67 (20%+) (Fig. ). The findings were consistent with a diagnosis of primary intra-pancreatic sarcomatoid malignant mesothelioma (SMM).
The tumor was not amenable to radical surgery because of its location and size. The patient was treated with palliative chemotherapy. After two cycles of pemetrexed plus cisplatin, efficacy evaluation revealed progressive disease. The patient decided to cease chemotherapy and received the best supportive care. The patient died of cachexia 4 months post-diagnosis. |
pmc-6591315-1 | A 56-year old German man presented with bilateral, left-dominant rest, and postural hand tremor that first manifested ~2.5 years earlier and increased progressively over time. Physical examination revealed general bradykinesia, rigor of the left arm with dysdiadochokinesia, and diminished amplitude in tapping tasks with the left hand and foot. There was slight hypomimia but no slurred speech, hypophonia, or dyskinesia. The trunk was bent to the left when standing (Pisa-syndrome), left arm swing was diminished while walking with normal step length, there was no postural instability or history of falls. In addition, the patient developed less of an interest in social interactions and reported that he had become less decisive in his job as a lawyer, something which was also noticed by his colleague. His mood was slightly depressed without morning lows, his appetite had decreased but was not accompanied by weight loss and he woke up 1–2 h earlier than usual, albeit without ruminating thoughts. The MDS-UPDRS-III (Movement Disorder Society Unified Disease Rating Scale part III) was 18 and the BDI (Beck Depression Inventory) was 15. He denied other non-motor symptoms associated with Parkinson's disease, such as hyposmia, obstipation, and REM-sleep behavior disorder. His alcohol consumption was moderate and he had never smoked or taken illegal drugs.
For a duration of around 3 years, the patient took herbal tablets for hypertension, but no prescription drugs. His blood pressure was within the normal range. Both the routine blood examination that included copper metabolism and an MRI of the brain, prompted by his general physician, were unremarkable. There was no family history of movement disorders.
The clinical presentation was deemed consistent with that of Parkinson's disease (PD). However, because non-motor symptoms other than a depressive mood were absent and ultrasound showed normal echogenicity of the substantia nigra [thus ruling out local PD-associated gliosis ()], dopamine transporter (DAT) single-photon emission computed tomography (SPECT) with [123I]FP-CIT was performed to confirm PD. DAT SPECT showed a mild but remarkable bilateral homogenous reduction of DAT availability in the striatum (; approximated striatal binding potential, BP: right 1.72, left, 1.89, lower normal cut-off: 2.1), without the anterior-posterior gradient with strong putaminal involvement that is typical for PD. This led to the suspicion of a systemic effect (e.g., pharmacological blockade).
On further questioning, the patient revealed that the Ayurvedic medication originally prescribed to him 3 years earlier for hypertension whilst on holidays in India was normalin®, one tablet twice a day. One year later, the patient visited the same Ayurvedic physician, who subsequently exchanged normalin® for serpina®, two tablets a day, and additionally prescribed tablets containing ashwagandha and brahmi. Six months preceding the first visit, the patient had increased the dose of serpina® to four tablets a day. Both normalin® and serpina® contain root extract from the plant Rauwolfia serpentina which is rich in reserpine, an inhibitor of the presynaptic uptake of neurotransmitters, such as dopamine and serotonin. Since the patient's symptoms appeared a few months after taking normalin® and progressed after switching to serpina®, we advised him to stop taking the herbal medication immediately.
After 1 month, there were no changes in the patient's symptoms, physical examination, MDS-UPDRS-III or BDI. He tried taking levodopa/benzerazide 100 mg/25 mg for 1 week and escitalopram 10 mg for 4 weeks, but since this had no effect on his bradykinesia or depressive mood, he discontinued this medication.
Two months after discontinuing the herbal medication, the patient's mood had improved substantially and his motivation for working and socializing had returned to the previous normal levels, the BDI was zero. His hypertension was controlled with 8 mg candesartan daily. All motor symptoms had vanished except for a persistent positional tremor in the left hand. After 3 months, this tremor had also disappeared and a follow-up DAT SPECT scan had normalized completely (; striatal BP: right, 2.22; left, 2.34). Another 12 months later, none of the symptoms had reappeared and he felt himself to be completely healthy. The patient was ultimately diagnosed with transient Parkinsonism and depression caused by reserpine, with “certain” on the WHO-UMC causality category and “probable” on the Naranja scale (8 out of 13 points). |
pmc-6591332-1 | An 87-year-old woman was referred to our hospital in poor general condition (Eastern Cooperative Oncology Group performance status 3) with dyschezia and loss of appetite for the past week. A colonoscopy confirmed an obstructive descending colon cancer that could not be penetrated by the colonoscope (Fig. a), and computed tomography revealed an obstructive ileus (Fig. b). The patient’s medical history included coronary artery bypass surgery 11 years ago, surgery for dissecting aortic aneurysm 8 years ago, pacemaker implantation for sick sinus syndrome a year ago, chronic renal failure, and type 2 diabetes. Although a colectomy to reduce the obstruction was required at the earliest possible time, we first placed a colonic stent on the first day of admission to gain some time for preoperative evaluation to reduce perioperative risk (Fig. a, b). Then, preoperative echocardiography on the second day after admission revealed severe AS with an aortic valve area of 0.78 cm2, mean aortic pressure gradient of 48 mmHg, a maximum jet velocity of 4.2 m/s, and an ejection fraction of 63%. Although manifestations of severe AS were not clear due to her reduced activity levels, we thought that treating severe AS prior to the colectomy was not entirely wrong because having symptoms were undeniable, and the brain natriuretic peptide, which is one of the risk factors for complication of AS, was high (216.1 pg/mL). Furthermore, the high surgical risk for colectomy calculated from the American College of Surgeons National Surgical Improvement Program Surgical risk calculator (20.9% of serious complication and 5.0% of mortality risk) was also a reason to prioritize the treatment of AS. It is because the deterioration of the general condition, which was one of the main factors of surgical risk, might be caused by severe AS. However, as SAVR mortality risk was evaluated to be high at 8.7% (according to the European system for cardiac operative risk evaluation II) and adverse events and surgical stress after SAVR may delay or prevent the colectomy, we proceeded with TAVI instead of SAVR.
The patient underwent TAVI through the right femoral artery on day 31 after colonic stenting. A 26-mm Evolut R valve was placed under fluoroscopic guidance (Fig. ) and echocardiography 7 days after the procedure showed an improvement in the mean aortic pressure gradient to 7 mmHg with an aortic valve area of 1.82 cm2 and the ejection fraction to 70%.
To reduce probable tumor bleeding, we administered aspirin alone from TAVI until colectomy, even though dual antiplatelet therapy is recommended. The patient received 10,000 unit/day heparin administration for 7 days instead of aspirin until 5 h prior to surgery and then underwent laparoscopic colectomy 22 days after TAVI. We ligated left colic artery, which was the main feeding artery of the tumor, and performed D3 lymph node dissection using a 5-port technique in the supine position. The colon was resected with sufficient distal and proximal margins from the tumor and anastomosed. The operation time was 346 min and the estimated blood loss was 10 ml. Pathologically, the tumor was diagnosed as T4a, N1b (3/32), M0, Stage IIIB. Her postoperative course was unremarkable, and she was discharged 14 days after colectomy. No recurrence was observed for more than 1 year without adjuvant therapy. |
pmc-6591504-1 | A 67-year-old male (height 163 cm, body weight 70.0 kg) was referred to our hospital for evaluation of an abdominal tumor which was pointed by abdominal ultrasonography during his health checkup. An enhanced computed tomography scan revealed a hypovascular tumor in the segment 1 of the liver (6 cm diameter), which invaded to the portal vein and showed multiple lymph node metastases including para-aortic ones (Fig. a). Brushing cytology of the bile duct yielded a diagnosis of a moderately differentiated adenocarcinoma. The clinical diagnosis was unresectable advanced intrahepatic cholangiocarcinoma with para-aortic lymph node metastases (cT2N1M1, stage IVB according to the Japanese classification system, the 6th edition). The serum CA19-9 level was 2323 U/ml. The patient received systemic chemotherapy [gemcitabine (1000 mg/m2) and cisplatin (25 mg/m2) infused on days 1 and 8 and S-1 administered orally (120 mg/day) on alternate days]. This regimen was repeated at 21-day intervals. After 8 courses of GCS, the primary tumor and para-aortic lymph nodes showed remarkable regression (Fig. b). The tumor size was 3 cm in diameter. The primary tumor was regarded as partial response, while the para-aortic metastases were regarded as complete response. The synthesis was partial response according to the RECIST 1.1 standard. The serum CA19-9 level decreased to 11 U/ml. The relative dose intensities for gemcitabine, cisplatin, and S-1 were 93.5%, 87.5%, and 68.8%. As adverse effects were limited to grade 2 creatinine elevation (Common Terminology Criteria for Adverse Events version 4.0), the patient underwent conversion surgery. Intraoperative frozen section showed no evidence of para-aortic lymph node metastases. Therefore, the patient underwent extended left hepatic lobectomy with the caudate lobe, concomitant portal vein resection, and lymph node dissection including the para-aortic region. The excised specimen showed a solid tumor with a diameter of 26 × 17x12 mm in the caudate lobe of the liver (Fig. a). Pathological findings revealed more than 50% of the tumor area replaced with diffuse fibrosis (Fig. b) and one of the para-aortic lymph nodes had residual tumor cells and fibrosis (Fig. c). Curative resection was achieved (ypT2N1M1, stage IVB, Evans criteria IIb). After surgery, the patient developed perforation of a duodenal ulcer and was treated by ultrasonography-guided percutaneous drainage and antibiotics. Thereafter, the patient made a satisfactory recovery, was discharged on postoperative day 25, and received adjuvant chemotherapy with S-1 for 12 months. The patient remains well with no evidence of tumor recurrence as of 48 months after surgery. |
pmc-6591562-1 | A 73-year-old Chinese female presented with blurred vision in the left eye for 50 days without any obvious inducement. Her medical history included high myopia for more than 50 years, but she had never had diabetes, hypertension, or other systemic illness. On admission, her blood pressure was 100/60 mmHg, her visual acuity was light perception, and her intraocular pressure (IOP) was 5 mmHg in the left eye. An ocular examination performed on the left eye showed a flare and was positive for cells in the anterior chamber. A fundus examination and B-ultrasound revealed retinal detachment with choroidal detachment (A, B).
All hematological and biochemical tests were within normal limits. After surgical contraindications were excluded, we performed a combined phacoemulsification without intraocular lens implantation and vitrectomy in combination with silicone oil injection. The choroidal detachment (C, star) was clearly visible before phacoemulsification was performed. After phacoemulsification, 20G and 23G vitrectomy cannulas were placed 3.5 mm from the limbus. The 20G cannula was left open, and the infusion line was placed in the anterior chamber through a clear corneal paracentesis with a bottle height of 40 mmHg. As soon as the infusion line was opened, a copious, thick flux of blood flowed out of the 20G cannulas and was followed a yellowish liquid (D). As the blood flow continued, the choroidal detachment visibly recessed. Though there was tight adhesion between the posterior vitreous and retina, the posterior vitreous cortex was completely separated from the inner surface of the retina. A 1/5PD hole was found in the arch of the vascular arch below the macula (E, black arrow), and a full vitrectomy combined with intravitreal silicone oil tamponade was performed. After surgical treatment, the retinal detachment and choroidal detachment were reduced (F). After treatment with a silicone oil tamponade, visual acuity was hand motion (HM) and counting fingers after 1 day and 1 month, respectively. After 3 months, the silicone oil was removed, and recurrent retinal detachment occurred because of proliferative vitreoretinopathy (PVR). A secondary surgery was performed to peel the preretinal membrane and apply silicon oil, and the silicone oil was removed 3 months later. Finally, the patient showed a good reattached choroidea and retina and achieved a visual acuity of 20/2000. |
pmc-6591827-1 | A 7-year-old male patient began his condition in 2008 with pain and claudication in the left lower limb. He was taken to his Family Medical Unit, where he was referred to the Emergency Unit of the Lomas Verdes High Specialty Medical Unit (UMAE) of Traumatology and Orthopedics of the Mexican Institute of Social Security (IMSS), where they performed a bone biopsy and curettage with bone graft application in lyophilized cadaveric tricortical bone allograft, with a presumptive diagnosis of aneurysmal bone cyst. He remained under surveillance in the private sector; however, pain persisted in the left lower limb. Afterwards, he presented with pain exacerbation, which was why he returned to the emergency department in 2013.
Additional studies were performed showing osteolysis of the left iliac bone. Suspecting a malignant process, he was referred to the UMAE at Pediatrics Hospital National Medical Center “Siglo XXI” to the Oncology Department for study protocol at 11 years, 11 months old. Further studies were performed with pelvic radiographs and computerized tomography with three-dimensional reconstruction (see Figs. , and ). The bone scan was negative for infectious or inflammatory bone disease. The magnetic resonance showed a neoplastic lesion of the pelvis with edema, suggestive of Ewing’s sarcoma. An incisional biopsy was performed in December 2013, with an initial histopathology report of an aneurysmal bone cyst. However, the observed osteolysis in the radiographic studies created diagnostic doubts.
Follow-up was performed through the outpatient clinic, showing slight improvement of his symptoms. In June 2014, a new bone biopsy and curettage was performed, with the use of lyophilized cadaveric tricortical bone grafts fixed with Kirschner wire. The histopathological study reported necrosis and reabsorption of spongy bone tissue and vascularized fibrous connective tissue with some osteoclastic giant cells. Two years later, lyophilized cadaveric tricortical bone grafts were used again. He had appropriate evolution and remitting symptoms; thus, he was discharged from the service (Additional file ). |
pmc-6591873-1 | An otherwise healthy 37-year-old Tunisian woman presented to the emergency department with a 3–4 month history of right upper quadrant pain. She also reported general malaise and a 2–3 kg weight loss. She denied any jaundice, fever or infectious symptoms. She had been living in Tunisia up until the previous year, and had been exposed to dogs and sheep. On physical examination, she had mild right upper quadrant tenderness, without peritoneal signs. Computed tomography (CT) scan revealed a 7.1 × 6.5 × 10.7 cm complex, multi-loculated cystic mass with partially calcified septations, partially embedded within the liver (segments V/VIII) and causing deviation of the right portal vein (Fig. ). There was no biliary dilatation or portal venous thrombosis. White blood cell count (5.5 × 10^9/L), eosinophil count (0.2 × 10^9/L) and liver function tests (Bilirubin 6, ALT 19, AST 19, ALP 48, GGT 15) were within normal limits. Tumor markers (including Ca19–9) and serum IgE level were not performed. She was discharged with outpatient hepatobiliary follow-up.
Given her history of proximity to livestock in an endemic area, the diagnosis of a hydatid cyst was strongly favored. However, echinococcosis and amoebiasis serologies were both negative. At the multidisciplinary tumor board discussion, the diagnostic value of a pre-operative biopsy was weighed against the risk of potential seeding. The Tropical Disease team deemed this lesion to be most likely a hydatid cyst, corresponding to a category CE 3A cyst according to the WHO classification []. Although only the minority (5–20%) of CE 3 cysts are sero-negative [], the recommendation was to proceed with surgical resection, following a one-week pre-operative course of albendazole.
She underwent a right hepatectomy through a right subcostal incision considering the size of the lesion and its proximity to the right portal vein. Intra-operatively, the cyst appeared white, quite thickened, and intimately associated with the portal vein. It was opened on the back table and found to contain murky fluid as well as another cyst within, which was originally thought to represent a daughter cyst (Fig. ). Her postoperative course was unremarkable, and she was discharged home on postoperative day 5. An abdominal ultrasound performed 6 months post-operatively showed no residual disease.
Final pathology surprisingly revealed a biliary mucinous cystic neoplasm, which was completely excised with negative margins. It contained ovarian-type stroma and dystrophic calcifications. The cyst wall was composed of a single layer of cylindrical to flattened cuboidal epithelium (Fig. a). Cytokeratin 19, an epithelial marker, was positive (would be negative in hydatid cyst) (Fig. b). The estrogen receptor protein and CD10 were expressed, highlighting the ovarian-type stroma, which is typically seen in BMCN (Fig. c and d). Vimentin and PAX-8 were negative, thereby excluding gynecological origin. The remainder of the liver parenchyma and gallbladder were otherwise normal. |
pmc-6591931-1 | The patient was a 5 years old Italian girl in usual good health, regularly vaccinated. Family history was unremarkable. She was admitted at the emergency room of the Ferrara’s Hospital because of pain in her feet started 3 days before after a minor trauma, and of an abnormal gait with lower limbs extended.
The physical examination revealed the presence of ecchymosis at the ankles, and reduced mobility of the left tibiotarsic joint. No additional clinically relevant findings were observed on physical examination. The child was in good health, exception made for a feverish gastroenteritis 3–4 weeks before admission to the emergency room. She was discharged with anti-inflammatory therapy (Ibuprofen) every 8 h for 5 days, and recommending rest. However, once at home, she complained of night-time articular pain localized to the feet, and later extended to dorsal spine, hands and wrists. Wrists also showed ecchymosis. Fever was also present (maximum temperature of 38.9 °C).
Due to rapid deterioration of her conditions, the child was again referred to our emergency room. At the time of admission, she had an axillary temperature of 38.9 °C, aching and walking with lower limbs extended. Physical examination was suggestive of a polyarticular arthritis: joint pain elicited only by touching with bilateral functional limitation of tibiotarsic joints, knees, wrists, elbows and left metacarpophalangeal joints and in flexion the left hand-interphalangeal joints.
Pain was also triggered by cervical and dorsal spine movement. Cardio-respiratory objectivity, as well as pharynx and mucous membranes appeared normal, and no adenomegaly or hepatosplenomegaly was observed. The skin was normal, without nodules or rash.
Blood tests revealed high grade leucocytosis (leukocyte count 19,070/μL, 82.4% neutrophils), predominantly neutrophilia, with elevated inflammation indexes (ESR 56 mm, CRP 130.5 mg/l). The fast pharyngeal swab for haemolytic beta-streptococcus of Group A was negative. It was decided to admit the patient at the Pediatrics Department, where, while waiting for culture tests, we started intravenous antibiotic treatment with Amoxicillin and anti-inflammatory therapy with Ibuprofen every 8 h. This therapy produced a partial clinical recovery.
Further laboratory tests revealed Antinuclear Antibodies positivity (1:160, dotted score), Rheumatic Factor negativity, and confirmed the increased level of markers of inflammation: leucocytosis with neutrophilia (leukocyte count 20,030/μL, 82% neutrophils), thrombocytosis (772 platelets × 103/μl), and increased ESR, CRP, alpha2globulin and ferritin (ESR 65 mm, CRP 164 mg/l, alpha2globulin 17.8%, ferritin 267 ng/ml). Pharyngeal swab for haemolytic beta-streptococcus was negative, and the anti-streptolytic title slightly increased (437 U/ml).
The electrocardiogram was normal, while the echocardiogram was suggestive of serositis: pericardial effusion in the absence of signs of hemodynamic repercussion. Abdominal ultrasound scan was normal and slit lamp examination showed no signs of eye inflammation. Thus, a tentative diagnosis of systemic inflammatory disease was made.
Therefore Kawasaki disease, rheumatic disease, streptococcal infection as differential diagnoses were excluded. Lymphoproliferative diseases were excluded by light microscope examination of peripheral blood and bone marrow aspirate smears.
Fever was intermittent with evening spikes. Intermittent fever, polyarthritis with poor response to anti-inflammatory drugs and serositis were suggestive of systemic juvenile idiopathic arthritis (SJIA).
First-line treatment with oral prednisone at the dose of 2 mg/kg/day induced a stable defervescence after 24 h (10th day of fever), and regression of arthritis.
Due to the marked thrombocytosis (1,515 platelets × 103/μl), although ascribable to the inflammatory process, in addition to the corticosteroid treatment, we started antiplatelet therapy with aspirin at the dose of 5 mg/kg. During the hospitalization no clinical or laboratory evidence of macrophage activation syndrome was observed.
After about 2 weeks, the child was sent home in good general conditions with no articular and district signs of disease, except a residual minimal pericardial discharge. At that time, the platelet count was increased (2,597 × 103/μl) in the absence of other abnormal laboratory indexes.
However, at follow-up visit 1 week after Hospital discharge, severe thrombocytosis (up to 3,193 platelets × 103/μl) was found. Subcutaneous therapy with interleukin 1β (IL-1β) receptor antagonist (Anakinra 2.5 mg / Kg/ day) was started for a total of 22 administrations. IL-1β, interleukin-6 (IL-6) and thrombopoietin (Tpo) were measured before, throughout and after Anakinra treatment.
Platelet number decreased rapidly, with normalization achieved after the tenth dose (404 platelets × 103/μl), with subsequent resolution of the pericardial effusion without coronary and valve involvement.
Residual blood samples after routine blood counts were used for plasma separation. Plasma aliquots were stored at − 80 °C avoiding freezing and thawing cycles. Plasma IL-6, IL-1β and Tpo levels were measured by using the Human IL-6 Quantikine, human IL-1β/IL-1F2 Quantikine, and the Human Thrombopoietin Quantikine ELISA kits, respectively (all from R&D System, Minneapolis, MN, USA), following manufacturer’s instructions. Samples were analyzed in duplicate. Optical density was measured with a Multiskan FC spectrophotometer (Thermo Scientific, Waltham, MA, USA).
Plasma samples were obtained at the following time points: the day before starting Anakinra treatment (T0), at day 14 (T1) after beginning treatment, at day 22 (the last day of treatment, T2), and after 10 months (T3). Plasma IL-6 levels (3.34 pg/ml at T0 and 3.92 pg/ml at T2, Table ) were unaltered compared to normal values (12–13 pg/ml) [], suggesting that IL-6 was not implicated in the disease process. On the contrary, plasma IL-1β levels at T0 were significantly increased (66.51 pg/ml). IL-1β levels were further increased at T1 (104.22 pg/ml), but drastically declined at T2 (17.75 pg/ml). At time T3, IL-1β concentration was 13.16 pg/ml, i.e. in the same range of concentrations reported for healthy children in other studies (8.1–19 pg/ml) [] [].
Finally, plasma Tpo levels were also examined at all time-points. Values were consistent with those reported for healthy adults (62.3 to 124 pg/ml []) and children (7 to 99 pg/ml []), and no significant changes were observed throughout the test period (Table ). Due to limited availability of blood, it was not possible to measure all cytokines at all time points.
A correlation between IL-1β and Tpo plasma levels was tentatively verified (Fig. ), but although the two parameters seemed to be correlated, statistical significance was not achieved (R = 0.887, p = 0.057).
Therapy with Anakinra was well tolerated, the only side effect observed being a skin rash at the injection sites that resolved rapidly and spontaneously. At four and 10 months follow-up, the child has normal platelet count (439 platelets × 103/μl) and echocardiography test. |
pmc-6591983-1 | A 50-year-old Hispanic man with known history of obesity and hypertension presented with a 3-month history of abrupt episodes of weakness and altered mental status. He referred severe psychomotor symptoms as well as anxiety, aggressiveness, agitation, weakness, diaphoresis, and decreased visual acuity occurring at any time of the day and improved by eating. Upon further questioning, our patient, who worked as a truck driver and whose symptoms had reflected poorly in his workplace, also expressed overall discomfort with life and wishes of death due to the intensity of his symptoms. He had no history of tobacco smoking or excessive alcohol consumption. Medications taken prior to admission included candesartan 16 mg and hydrochlorothiazide (HCTZ) 12.5 mg once a day for hypertension.
During the following weeks, the symptoms increased in severity and frequency, with continued unremitting anxiety and weakness accompanied by loss of consciousness and extreme burning sensation in his entire body. After this acute episode, he was evaluated by a primary care physician in a local hospital and hospitalized for 4 days, where he continued to present recurrent episodes of irritability and aggression to self and others. He was discharged and referred for psychologic evaluation by mental health services at another institution. No specific diagnoses were given.
Upon release from mental evaluation, he was evaluated by a third physician, who performed a 3-hour postprandial blood glucose test which revealed a blood glucose level of 58 mg/dL. Suspecting an insulinoma, our patient was admitted to a third-level hospital, and upon arrival his vital signs were: afebrile (37 °C), heart rate of 93 beats per minute, blood pressure of 161/84 mmHg, respiratory rate of 19 breaths per minute, and oxygen saturation of 98% on room air. A physical examination revealed an oriented, well-nourished, and hydrated patient, without any stigmata on skin, a normocephalic and atraumatic head, and no masses or lesions. His eyes and ear, nose, and throat examinations were all within normal limits. His lungs were clear to auscultation without any added sounds, and heart sounds had a regular rate and rhythm without any murmurs, rubs, or gallops. An abdominal examination revealed a soft and nontender abdomen without any masses or organomegaly. Extremities showed no deformities, edema, skin discoloration, swelling, or tenderness. A neurological examination was within normal limits and showed an alert patient oriented to person, time, and place with fluent speech and comprehension. Cranial nerves II–XII were intact, with steady gait, with grossly intact sensation in all extremities. The reflexes were symmetric and 2+ at the biceps, triceps, knees, and ankles and had full strength in all extremities. Initial laboratory studies revealed a hemoglobin level of 15.7 g/dL (normal range, 13.7–17.5 g/dL), white blood cell count of 9.51 K/uL (normal range, 4.23–9.07), and calcium levels of 9.60 mg/dL (normal range, 8.42–10.22).
He was placed on the standard 72-hour fast to induce a hypoglycemic episode and became symptomatic after 20 hours. Further laboratory testing revealed blood glucose of 29 mg/dL (normal range, 100–125 mg/dL), increased insulin at 426 mIU/L (normal range, 2.6–24.9 mIU/L), and C-peptide levels of 12.83 ng/mL (normal range, 0.5–2.0 ng/mL). Sulfonylurea levels, abdominal ultrasound, and contrast magnetic resonance imaging (MRI) were also performed without findings. Prolactin, parathyroid hormone (PTH), albumin, and calcium levels, as well as MRI of his brain were normal, ruling out multiple endocrine neoplasia type 1 (MEN-1).
Prior to imaging, liver and renal function tests were performed, revealing alanine aminotransferase (ALT) levels of 27 U/L (normal range, 21–72), aspartate aminotransferase (AST) of 24 U/L (normal rang, 17–59), and creatinine levels of 0.89 mg/dL (normal range, 0.66–1.25). Urine analysis revealed no abnormal findings. After negative initial imaging, a triple phased computed tomography (CT) scan was performed, with an early arterial phase revealing a 1.8 × 1.6 cm hypervascular mass located at the tail of the pancreas (Figs. , ). Both kidneys had normal size and morphology, and slight hepatomegaly was shown as well as round nodules less than 10 mm in size in segments 3, 7, and 8.
At the completion of imaging studies, our patient was presented to the surgical department and scheduled for distal pancreatectomy in addition to a splenectomy due to the tumor’s close proximity to his spleen.
During the course of surgery an incidental appendectomy was also performed. A 4.5 × 3.5 × 1.5 cm specimen (Fig. ) was collected during surgery and sent for pathologic analysis; the pathologic analysis reported the diagnosis of insulinoma, an encapsulated mass within the specimen that measured 1.5 × 1.5 × 1.0 cm and is consistent with the findings on CT scan.
Upon microscopic evaluation, histologic analysis revealed pancreatic tissue organized into islets within a vascularized stroma interspersed by hyaline tissue (Fig. ). Surgical margins were clear of invasion and no metastasis was found in liver or abdominal lymph nodes.
Our patient had no complications during the immediate postoperative period, in which he was tested for glucose (190 mg/dL, normal range < 126 mg/dL), lipase (207 U/L, normal range < 160 U/L), and calcium (8.5 mg/dL, normal range, 8.5–10.2 mg/dL), and administered omeprazole (40 mg intravenously once per day), insulin glargine (100 UI subcutaneous injection once per day), atenolol (100 mg orally once per day), HCTZ (25 mg orally once per day), metoclopramide (10 mg intravenously every 8 hours), nalbuphine (10 mg intravenously every 8 hours), and ceftriaxone (1 g intravenously every 12 hours). During the third postoperative day (POD), elevated respiratory rate, decreased oxygen saturation, and chest auscultation of diminished breaths sounds with rhonchi, pointed toward a diagnosis of left lobar pneumonia with pleural effusion. However, he was discharged on the fifth POD and prescribed ambulatory management and follow-up by endocrinology, pulmonology, and internal medicine units. On the ninth POD, he returned to our hospital with acute pain and serohematic secretions at the surgical site and was managed with drainage of the seroma and intravenously administered ketorolac (30 mg intravenously twice a day). A vaccination scheme was established on the 19th POD follow-up visit and started on the 18th POD with Prevnar-13® (pneumococcal 13-valent conjugate vaccine, diphtheria CRM197 protein), followed by Influenza (34th POD), and diphtheria and tetanus (DT) booster (53rd POD). On POD 21, he returned to our emergency room with acute pain, 10/10 intensity of both left quadrants. Laboratory results returned “within normal limits” and he was discharged on ambulatory management. He remains asymptomatic at 6-month follow-up and is currently being treated with ciprofibrate (100 mg orally once per day), amlodipine (10 mg orally once per day), enalapril (20 mg orally once per day), and aspirin (81 mg orally once per day) |
pmc-6591990-1 | In October 2017, our 14-year-old white male patient developed evanescent, pruritic, and bothersome urticaria that persisted over several months despite guideline-based therapy with non-sedating H1 blockade at four times the approved Food and Drug Administration (FDA) dosing (loratadine 10 mg twice daily and cetirizine 10 mg twice daily), H2 blockade (ranitidine 150 mg twice daily), and use of a leukotriene modifier (montelukast 5 mg once daily). His urticaria was recalcitrant to conventional treatment. Allergen-specific immunoglobulin E (IgE) testing was negative to dust mites, cat, dog, roach, tree pollens, grass pollens, weeds, molds, latex, and galactose-a-1,3-galactose. Laboratory evaluation revealed an elevated serum tryptase (14.3 ng/mL; normal range ≤ 11.1 ng/mL), elevated anti-IgE receptor antibody (78% CD203c basophils), and normal thyroid-stimulating hormone (TSH). A low 25(OH)-D (vitamin D) at 23 ng/mL (normal 30–100 ng/mL) was identified as an incidental finding. A trial of omalizumab (300 mg every 4 weeks) was initiated in January 2018 but failed to provide benefit after four doses, and symptoms progressed to diffuse urticaria and facial angioedema prompting emergency evaluation for the worsening flare of urticaria and angioedema (Fig. ). On presentation to our emergency department in May 2018, vital signs were normal and a physical examination revealed patchy facial swelling, infraorbital edema, and urticarial lesions on his extremities, abdomen, and back. There was no respiratory or cardiovascular involvement. He initially received a 3-week course of orally administered corticosteroids (he did not receive an intravenously administered glucocorticoid), but when symptoms failed to improve after 2 weeks, he was started on hydroxychloroquine 200 mg daily and vitamin D supplementation (50,000 IU weekly for five doses then 2000 IU daily) in June 2018. Within 7 days of therapy initiation, his symptoms had completely resolved. He had attended four follow-up visits to the allergy clinic since his initial presentation when his therapies were weaned following this remission. Over the following months he had minor recurrences of manageable itching and minor urticaria which did not require medication. |
pmc-6592001-1 | A 17-years old female patient sustained a severe roll-over trauma and pelvic crush injury as a bicyclist rolled over by a truck. Upon arrival of the first responders, the patient was awake, alert, and following commands. The rescue of the patient required lifting of the truck. The patient suddenly became unstable when the pressure of the tire on the pelvis decreased. Subsequent to lifting the truck, the patient became hypotensive and required cardiopulmonary resuscitation, application of a pelvic binder, and endotracheal intubation at the accident scene. She was then admitted by ambulance to our trauma center under ongoing resuscitative measures. However, no intravenous access was established yet, only an intraosseous needle was placed into the left proximal tibia. After primary survey following the principles of ATLS®, a pelvic C-clamp was applied and a massive transfusion protocol was activated. In total, 10 units of concentrated blood and 10 units of fresh frozen plasma were given. In case of non-responding situations our further approach is immediate emergency surgery (Fig. ). REBOA is not an integral part of the algorithm in our institution yet. It was decided to perform a Venae sectio and to establish a REBOA with surgical approach to the left femoral artery. We use a conventional aortic stent graft balloon catheter (Reliant Stent Graft Balloon Catheter, Medtronic, Minneapolis, USA) as occlusion device. The initial insertion of the catheter was successful but could not be advanced beyond the inguinal region. Hence, the patient was transferred to the operating room (OR) but died despite maximum therapy before finalization of the surgical steps and after 100 min of ongoing cardiopulmonary resuscitation. In the OR, we carried out an emergency laparotomy with a standard midline approach and could find exsanguinating bleeding in the pelvis. Moreover, the reason for the missing sufficient catheter placement could be found (Fig. ). The catheter had been inserted correctly into the femoral artery but then exited the vessel through a vascular injury of the iliac artery and, hence, came to its end in the inner pelvis. Later, a forensic autopsy was performed, showing a long-distance ruptured and dehiscent external iliac artery with massive bleeding into the pelvis, and a bilateral vertical shear fracture of the pelvis with retro- and preperitoneal hematoma. The acetabulum was fractured on both sides and the left femur head was impacted into the lesser pelvis. The fracture pattern was concluded to be a sufficient reason for the long distance ruptured iliac vessel ipsilaterally (Figs. and ). However, it was not possible to assess with certainty whether the vessel was already ruptured by the over-roll accident, or whether this injury has totally or partly been a complication related to the sheath insertion. Given the massive surrounding hemorrhage a vessel injury existing before circulation collapse and starting of the CPR was most plausible from a forensic point of view. |
pmc-6592288-1 | The first patient, a 60-year-old white man, without significant past medical history, presented with memory issues and fatigue for a few months prior to a fall from a ladder in which he fractured his right femur and acetabulum. Computed tomography (CT) imaging showed a 5 × 3 cm right thalamic mass with focal hemorrhage and calcification. Brain magnetic resonance imaging (MRI) showed strong hyperintensity on T2-weighted FLAIR images, but only limited punctate enhancement on post-contrast T1-weighted images (, upper panels). A second smaller cystic mass, measuring 0.9 × 0.8 cm, was detected in the left frontal lobe; this mass was not biopsied. The patient underwent an initial biopsy of the thalamic mass, for which the diagnosis was anaplastic astrocytoma, IDH and histone H3 wild-type, WHO grade III (). The Ki-67 proliferation index was 12% (). A subtotal resection followed shortly (), encompassing the areas of punctate enhancement ( lower panels). Interestingly, the pathology showed two histologic patterns: a first pattern of neoplastic astrocytes with large, round nuclei embedded in an abundant myxoid extracellular matrix (, left panel; , SEGA-like case 1A), and a second pattern of a solid growth composed of larger and polygonal SEGA-like astrocytes with abundant cytoplasm (, right panel; , SEGA-like case 1B). Mitotic figures were scattered, with up to 3 per high-power field, but no necrosis or microvascular proliferation were seen in the relatively small specimen. The Ki-67 proliferation index was up to 20% (). Of note is that the fragment of tumor obtained by biopsy contained only areas of the first pattern, without SEGA-like morphology (). The tumor pursued an aggressive course, inducing paralysis and rapid transition from punctate to ring enhancement on MRI (). The patient died a few months later, 1 year after initial diagnosis. |
pmc-6592288-2 | The second patient, a 65-year-old white woman, had a past medical history of non-malignant breast tumor, status-post right mastectomy without chemo- or radio-therapy, 3 years prior to developing expressive aphasia and unrelenting headache for 2 weeks followed by nausea and vomiting. On ophthalmic examination, the patient had right homonymous hemianopsia. MRI showed a large (7 × 3 cm), elongated, rim-enhancing mass located in the left temporo-occipital region, between the atrium and the temporal horn of the lateral ventricle, infiltrating the ependyma of the atrium and the hippocampus, and surrounded by extensive vasogenic edema (). Subtotal resection was performed ( and ), and histopathologic examination revealed a lesion with extensive ischemic necrosis and many vessels obstructed by fibrin microthrombi (, left panel). Epithelioid/gemistocytic tumor cells were seen either in clustered foci or, more often, infiltrating the parenchyma (, central and right panels, respectively; , SEGA-like case 2). Scattered mitotic figures were present but they were not numerous. The maximum Ki-67 proliferation index was 13.3% (). Immunohistochemistry (IHC) showed positive GFAP expression, but no IDH1-R132H, histone H3 K27M or p53 staining of neoplastic cells, and the tumor was diagnosed as glioblastoma, WHO grade IV. The patient was placed in hospice one month after the resection and succumbed three months after initial diagnosis ( and ). |
pmc-6592288-3 | The third patient, a 46-year-old white man, had a history of malignant melanoma of the right thigh resected 3 years prior to developing brain symptomatology (). The family history was significant for brain tumor in the patient’s father. MRI showed a 2.5 cm diameter round, contrast-enhancing mass in the right lateral ventricle atrium; gross total resection was subsequently performed (). Histopathological examination showed a neoplasm with solid architecture composed of SEGA-like epithelioid cells with nuclei displaying large prominent nucleoli (–; , SEGA-like case 3). IHC showed positive labeling of neoplastic cells with GFAP (), with no expression of HMB45, MART1, S100 protein, pancytokeratin, EMA, synaptophysin, IDH1-R132H or histone H3 K27M. The tumor exhibited necrosis and vascular proliferation, and, as in the previous case, vessel thrombosis (, left panel). Mitotic figures were numerous and the maximum Ki-67 proliferation index was 18.5% (). In contrast to the other two cases, the tumor displayed prominent lymphocytic infiltration (, right panel). The diagnosis rendered was glioblastoma, WHO grade IV. The patient underwent concurrent treatment with radiation and temozolomide, but 11 months later developed radiological recurrence that was treated with gamma knife radiotherapy, and 8 months after that, new radiologic recurrence was seen ( and ). He continued treatment with temozolomide. Two years and four months after brain tumor resection, the patient was placed in hospice due to disease progression, and was subsequently lost to follow-up ().
The morphologic resemblance of these three SEGA-like high-grade gliomas to SEGAs is shown in , where 4 cases of SEGA are also illustrated. SEGA cells have been shown to express TTF-1, suggesting lineage-restricted histogenesis []. In our hands, IHC with a TTF-1-specific antibody has shown moderate staining of subsets of neoplastic cells in SEGA cases, confirming the reported data []. In contrast, all three glioblastoma SEGA-like cases were negative for TTF-1 expression (). |
pmc-6592301-1 | The patient was a 76-year-old male with an ophthalmic history of bilateral primary open angle glaucoma (POAG), who was under treatment since 2004 with no signs of pseudoexfoliation in either eye as confirmed by dilated pupil examination. Also, he had bilateral map-dot-fingerprint corneal dystrophy, bilateral tilted discs and bilateral mild dry age-related macular degeneration. He had a right phacoemulsification surgery in 2008 and an uneventful left phacoemulsification surgery with toric posterior chamber intraocular lens (PCIOL) implant in 2009. A written informed consent was received from patient. The study was conducted in accordance with the Declaration of Helsinki. In March 2016, he presented with left monocular diplopia due to inferior dislocation of the PC IOL (sunset syndrome-Fig 1). An IOL exchange surgery was scheduled, but while waiting to recover from an urgent abdominal aorta aneurysm repair surgery, he developed pain in the left eye and blurred vision. His corrected distance visual acuity (CDVA) was 20/60. Slit-lamp examination revealed displacement of the PCIOL - capsular bag complex to the AC (Fig 2), a very shallow - almost flat AC (Fig 3) and a rise in the IOP (30mmHg). The fundoscopic examination was unremarkable with no signs of choroidal detachment.
At this point, malignant glaucoma was diagnosed. YAG laser was used to disrupt the hyaloid face just above the IOL rim, with some deeper shots to cut across the vitreous humor. A gush of fluid emerged with simultaneous deepening of the AC (Fig 4) and the IOP dropped immediately to 24 mmHg and later to 9 mmHg. A prophylactic YAG peripheral iridotomy was also performed.
An IOL exchange surgery with anterior chamber IOL placement was performed a few days later resulting in a final CDVA of 20/30. |
pmc-6592302-1 | This is a case report of a 29-year old Caucasian woman evaluated in 2016. The present study was conducted in glaucoma clinics at Federal University of São Paulo. A written informed consent was obtained from the patient. Also, it was performed in accordance with the tenets of the Declaration of Helsinki. The patient presented with a one-day history of decreased visual acuity in both eyes (OU) described as blurring of vision and associated with headache. She denied any personal, ophthalmological, and family medical history. She was using a weight loss formula containing one-hundred milligrams of topiramate that she started a few days before. Ophthalmologic examination on admission revealed a count fingers visual acuity that improved to 0.4 logMAR in OU with refraction of -7.00 spherical diopters in OU. Her previous spectacles prescription was of -2.25 cylindrical diopters at 180 degrees in the right eye (OD) and -2.75 cylindrical diopters at 180 degrees in the left eye (OS). Slit lamp exam demonstrated a bilateral shallow anterior chamber (AC) without synechiae or inflammation signs. The pupillary reflex was normal in OU. The intraocular pressure (IOP) was 32 mmHg in OU. Gonioscopy revealed closed angle in OU. The pachymetry exam was 579 micrometer (µm) in OD and 565 µm in OS. On fundoscopy, she had a cup to disc ratio of 0.5 in OD and 0.4 in OS. Anterior segment optical coherence tomography (OCT) revealed an appositional angle closure () and AC measurements of 2.64 millimeters (mm) in the OD and 2.55 mm in the OS. The pachymetry exam was 579 micrometer (µm) in OD and 565 µm in OS. ().
The treatment was started with tropicamide 1% every 8 hours in OU as well as timolol maleate 0.5% and brinzolamide 1% every 12 hours in OU. Topiramate formula was also discontinued. After 40 minutes of cycloplegic instillation, the myopic shift decreased to -4.00 spherical diopters and the IOP decreased to 22 mmHg in OU. The patient returned for revaluation after two days with visual acuity improvement. Her myopic shift decreased, presenting with refraction of -1.00 spherical diopter and visual acuity of 0.1 logMAR in OU. The IOP decreased to 5 mmHg in OD and 9 mmHg in OS. After that, we discontinued the timolol maleate and brinzolamide eyedrops.
After two weeks, her corrected distance visual acuity (CDVA) was 0 logMAR in OU with refraction of -1.00 spherical diopter and -2.75 cylindrical diopters at 175 degrees in OD and -0.50 spherical diopter and -2.50 cylindrical diopters at 175 degrees in OS. The IOP was 13 mmHg in OD and 14 mmHg in OS. The AC measurements improved to 3.67 mm in OD and 3.60 mm in OS. The pachymetry exam was 528 µm in OD and 526 µm in OS. (). |
pmc-6592304-1 | A 15-year-old male presented to our outpatient clinic complaining of pain, redness, tearing and reduced vision in the left eye after artificial snow foam entered his left eye 4 days before (June 2018). The boy had a contact with this substance in a wedding ceremony.
Written informed consent was obtained from the patient to publish this case report. History taking did not reveal any medical history either systemic or ocular. His parents reported that at the time of exposure, they washed his eyes profusely with tap water for unspecified amount of time. He did not seek medical advice as he did not complain except for redness which was attributed to the snow spray. No PH measurement was available as the patient presented 4 days after presentation. On examination, the corrected distance visual acuity (CDVA) in the right eye was 6/6 and in the affected eye was 6/24. Examination of the right eye by Slit lamp was unremarkable while the examination of the left eye showed ciliary injection with corneal edema with no epithelial defects. Yet there was a stellate shape endothelial lesion measuring 3 × 4 millimeters (mm) with large keratic precipitates (KP). The KPs were rounded, sharply marginated and pigmented deposited at the center and inferior part of the cornea (). The anterior chamber showed mild cell and flare. Examination of the posterior segment of both eyes were within the normal limits. Intraocular pressure (IOP) was normal. Examining the left eye by the Scheimpflug densitometry of the Sirius device (CSO, Florence, Italy), a plaque on the back of the cornea was evident. There was a protruding mass at the posterior corneal surface with a saw-tooth appearance and the density of the structure images was high. The reflectivity of the posterior corneal surface including the endothelium was high (). Corneal thickness was 691 micrometers.
The patient was investigated for underlying immunosuppressive causes and was found to have normal routine investigations and negative results for human immunodeficiency virus (HIV) and the Venereal Disease Research Laboratory test (VDRL). An anterior chamber paracentesis was performed for aqueous tap for the left eye and was sent for Polymerase chain reaction analysis (PCR) of Varicella zoster virus, HSV, and CMV, which had negative results for all the three viruses. Our approach was to start with prednisolone acetate 1% (Predforte. Alcon) every two hours with cyclopentolate eyedrops (cyclopherin) 3 times daily, moxifloxacillin hydrochloride ophthalmic solution 0.5% drops 4 times a day and tobramycin- prednisolone eye ointment at nights.
Within 3 days, the patient presented with rapid relieve of signs with a quiet eye. The endothelial plaque and KPs decreased in size and number. The corneal edema decreased as well (). Visual acuity improved to 6/12. A week later, the eye was free of inflammation with only a few KPs present. Follow up of densitometry scans showed decrease of hyper-reflectivity of the posterior surface of the cornea and disappearance of the saw-tooth protrusions () and the corneal thickness was below 530 micrometers. The treatment was tapered over a month with no report of recurrence. An informed consent was acquired from the patient's parents and the ethical committee of the Sohag refractive center was acquired to report the case. |
pmc-6592455-1 | A 78-year-old Romanian female with a past medical history of obstructive HCM, moderate aortic stenosis, non-obstructive coronary artery disease, diabetes mellitus type II diet controlled and macular degeneration came to the cardiology consult. The patient has moderate to severe wall hypertrophy and significant left ventricular outflow tract (LVOT) gradient that is difficult to grade but appears greater than 50 mm Hg (Figure ). Systolic function is normal. She complains of occasional palpitations, cough, and dyspnea on mild activities. The patient had moderate aortic stenosis. The patient accepted medicine but declined any intervention. Edema is present in the lower extremities, and the patient claims that it has been present for over four weeks. The patient was transferred to the emergency department due to worsening shortness of breath. The patient said she cannot walk for more than half a block. The patient was on metoprolol ER 100 mg because she could not tolerate a verapamil trial in the past. Due to this, it was decided to start disopyramide given her worsening symptoms. |
pmc-6592458-1 | An 83-year-old female presented to our emergency department with complaints of nausea and vomiting for four days. She had been diagnosed with right-sided, multicentric, infiltrating lobular carcinoma of the breast (Stage 1A, estrogen receptor positive (ER+), progesterone receptor positive (PR+), human epidermal growth factor receptor 2 negative (HER2-) 10 years ago. She had undergone a right mastectomy, and her sentinel lymph nodes, which were sampled during surgery, were negative for metastases. Previously, she had been treated with adjuvant anastrozole for five years, and yearly mammograms had been negative for recurrence.
One year prior to this presentation, she was evaluated at our hospital for similar complaints of nausea and vomiting. A computed tomography (CT) scan of her abdomen and pelvis on admission revealed a mass-like thickening of the gastric antrum and distension of the proximal stomach, as illustrated in Figure .
An upper endoscopy (EGD) was performed, which revealed esophagitis and gastric stenosis. This was dilated using a through-the-scope controlled radial expansion (CRE) balloon (Boston Scientific Inc., MA, US) to a maximum balloon size of 12 mm without fluoroscopic guidance. Biopsy of the gastric stenosis revealed gastric mucosa of antral type with minimal chronic inactive gastritis. No morphologic evidence of a Helicobacter pylori infection was detected. The patients’ symptoms of nausea and vomiting improved following balloon dilation. She was subsequently discharged on a daily proton pump inhibitor.
The patient underwent endoscopic ultrasound (EUS) 12 weeks later. Gastric stenosis was found at the pylorus and duodenal bulb, which was dilated again with a CRE balloon to a maximum dilation of 13.5 mm. Diffuse wall thickening of the antrum of the stomach was visualized endosonographically. The gastric wall measured up to 11 mm in thickness. Thickening within the deep mucosa, submucosa, and muscularis propria was noted. EUS-guided biopsies were taken, which revealed invasive poorly differentiated metastatic breast adenocarcinoma, as shown in Figure .
Tumor immunohistochemistry and morphology revealed ER+, PR+, and HER2- negative lobular breast adenocarcinoma as demonstrated in Figure and Figure . |
pmc-6592459-1 | A 29-year-old female of Asian ethnicity presented to the medical outpatient department with chief complaints of progressive jaundice and continuous dull pain in the right hypochondrium from the past seven months. She also reported an unintentional weight loss of 22 lbs during the corresponding period. On physical examination, she was severely icteric and cachectic with an abdominal examination revealing tender hepatomegaly and splenomegaly. On chest auscultation, she invariably had bilateral coarse basal crepts. Blood investigations precisely revealed an obstructive pattern of liver enzymes with raised serum bilirubin of 21.9 mg/dl with direct 20.0 mg/dl, alkaline phosphatase (ALP) 1854 U/L and gamma-glutamyl transferase (GGT) of 2022 U/L with markedly deranged prothrombin time (PT) and activated partial thromboplastin time (APTT). Aspartate aminotransferase (AST) and alanine aminotransferase (ALT) and all other routine investigations were normal. Ultrasonography (USG) of the abdomen showed an enlarged liver with focal lesions with no hepatic biliary dilatation.
Previous surgical history was significant for biliary cyst diagnosed four years back. Magnetic resonance cholangiopancreatography (MRCP) report at that specific time showed a 2.3 cm fusiform dilatation of common bile duct, positively confirming the potential diagnosis of biliary cyst type I (Figures , ).
She underwent complete cyst resection and cholecystectomy with Roux-en-Y hepaticojejunostomy. A biopsy at that particular point showed no signs of malignancy. Her immediate postoperative course was unremarkable and no post-operative surveillance was routinely done.
A contrast-enhanced computed tomography scan (CECT) and magnetic resonance cholangiopancreatography were planned. They both suggested multiple masses in the liver that were obstructing the common hepatic duct resulting in jaundice with metastatic spread to regional lymph nodes and lungs (Figures -).
For the histopathological confirmation of the cancer type, image-guided fine needle aspiration cytology (FNAC) was performed adequately. The biopsy sample sufficiently revealed malignant neoplastic lesions with prominent glandular differentiation positive for cytokeratin 7, 19 and CDX-2 suggesting metastatic adenocarcinoma most likely cholangiocarcinoma.
Liver resection was not possible due to the widespread metastatic disease at official presentation, and she was cautiously started on intensive chemotherapy. Her condition deteriorated after her fourth chemotherapy session, resulting in multi-organ failure. Palliative care was adequately provided but she expired within a few abysmal weeks due to the potential complications of organ failure. |
pmc-6592460-1 | A 63-year-old caucasian male with hepatitis C presented with right upper quadrant pain, nausea, and dark urine. On physical examination, he was markedly jaundiced and tender to palpation in the right upper quadrant. Total bilirubin was elevated to 20.2 milligrams per deciliter (mg/dl) with a direct component of 15.0. Albumin was normal and International Normalized Ratio (INR) was 1.0. Aspartate aminotransferase (AST) and alanine aminotransferase (ALT) were 55 and 43 units per liter. Alkaline phosphatase (ALP) was 148 international units per liter. An ultrasound of the right upper quadrant of the abdomen showed a thickened gallbladder wall but no stones. A computed tomography (CT) scan of the abdomen was suggestive of early acute cholecystitis and common bile duct (CBD) dilation of 7 millimeters (mm). The patient was started on intravenous piperacillin/tazobactam 4 grams every six hours. An endoscopic retrograde cholangiopancreatography (ERCP) demonstrated dilated intrahepatic ducts and the occlusion of the CBD due to thick mucus and no pancreatic lesions (Figure ).
A cholangiogram showed diffuse moderate dilation of the biliary tree and several filling defects in the CBD. The patient improved clinically with a rapid decrease in hyperbilirubinemia after clearing of the mucus and placement of a plastic biliary stent. Magnetic resonance imaging (MRI) of the abdomen showed intrahepatic biliary dilation but failed to reveal the cause of mucin production (Figure ).
He was shortly discharged thereafter for a referral for a repeat ERCP with digital cholangioscopy, which showed polypoid frond-like intraductal growth and associated mucin production, well within segment VIII of the intrahepatic biliary tree (Figure ).
Cold forceps biopsies performed during cholangioscopy showed columnar mucosa with adenomatous changes. The patient underwent a laparoscopic converted to open right hepatectomy. Pathologic examination revealed an intraductal papillary neoplasm, intestinal type, with focal high-grade dysplasia. The patient did remarkably well and had normal liver function tests and an abdominal ultrasound with no evidence of recurrence at a six-month follow-up. |
pmc-6592461-1 | A 79-year-old male with a past medical history of atrial fibrillation presented with symptoms of left eye pain, loss of vision, swelling, and redness for one week. The patient went to his ophthalmologist, who believed his current symptoms were most likely from lacrimal duct blockage, and he was advised to follow up. An appointment was scheduled with the ophthalmologist, but the patient’s visual blurriness worsened, and he eventually developed complete loss of vision, proptosis, redness, and swelling of the left eye, which made him come to the hospital. The patient denied any history of trauma to the left eye.
On examination, the left intraocular pressure was 47 mmHg, the pupil was mildly dilated, with no response to light, and vision was completely lost in the left eye, with redness and swelling around the left eye. Maxillofacial computed tomography (CT) scan (Figure ) demonstrated a retroconal hematoma with severe orbital proptosis. The patient was diagnosed with a non-traumatic retro-orbital hematoma secondary to anticoagulation with rivaroxaban. Emergent ophthalmologic consultation was done and left canthotomy and cantholysis were performed. Due to the time lost initially, as the patient presented more than a week after his symptoms started developing symptoms, his vision could not be saved. |
pmc-6592462-1 | A 78-year-old female with a longstanding history of vascular dementia with Montreal Cognitive Assessment (MOCA) score of 18 and no known coronary artery disease was brought to our hospital with a chief complaint of worsening agitation, memory loss and behavioral disturbance. She was also witnessed to have paranoid delusions and sleep disturbances characterized by difficulty falling and staying asleep. This subacute decline was not precipitated by any specific emotional stressor or physical trauma. When she was brought to the hospital, the patient was alert, oriented and verbal, but combative and agitated. Her initial set of labs was unremarkable. She was given haloperidol for sedation and later switched to ziprasidone. On the second day of hospitalization, her mental status deteriorated and she appeared lethargic and disoriented while remaining hemodynamically stable and otherwise free of cardiac symptoms. Physical exam did not reveal muscle rigidity, spasticity or hyperreflexia. An electrocardiogram (EKG) was obtained which showed sinus tachycardia with a rate of 110 beats per minute, frequent premature atrial complexes, diffuse T wave inversions in the anterolateral and inferior leads, and poor R wave progression (Figure ).
Troponin T was elevated to 0.09 ng/ml (reference: <0.01 ng/ml). Creatine kinase (CK) was 88 U/L (reference: 22-198 U/L), while creatine kinase-muscle/brain (CK-MB) was 2.25 IU/L (reference: 5-25 IU/L). An echocardiogram was performed which showed left ventricle ejection fraction of 20-25% and severe apical hypokinesis consistent with apical ballooning (Figure ).
Chest X-ray showed mild to moderate pulmonary edema. Cardiac catheterization was deferred in context of severe neurodegenerative disease and we initiated a diuretic for fluid overload later followed by a beta blocker in low dose. Serial EKG demonstrated resolution of poor R wave progression and restoration of normal T wave morphology. Troponin T trended back to normal. Echocardiogram a week later showed spontaneous improvement in the left ventricle ejection fraction to 50% and minimal residual hypokinesis of the apex (Figure ).
Chest X-ray demonstrated resolution of pulmonary edema. The patient improved clinically during this time. She continued to remain hemodynamically stable, largely free of symptoms and was discharged after receiving treatment for co-morbid conditions. |
pmc-6592464-1 | Patient A, an 18-year-old male from a lower socio-economic class with no prior mental health issues presented to the emergency department with complete mutism, marked psychomotor retardation, posturing along with a refusal to drink or eat, and complete lack of self-care for about two months. The onset of the disease was gradual with positive psychotic symptoms of bizarre delusions and auditory hallucinations over a span of 14 months, but then his condition gradually deteriorated over months to marked negative symptoms and catatonia. Self-care decreased to the point of passing urine and stool in the clothes for the past few months. He did not show any signs of echolalia, echopraxia, negativism, waxy flexibility, mitgahen/mitmachen, or ambitendency.
In these approximately one-and-a-half years, the patient’s family consulted faith healers for spiritual treatment, but it did not lead to any improvement in symptoms. Thus, in his first hospital admission, in accordance with the criteria of Statistical Classification of Diseases and Related Health Problems (ICD-10) [], the confirmative diagnosis of catatonic schizophrenia was made, and the patient was started on aripiprazole (15 mg a day) and lorazepam (1 mg thrice a day). Both aripiprazole and lorazepam were administered orally. There were no signs of improvement on the first two days, but on the third day of admission, noticeable changes were observed, and he started making eye contact. On the following days, he started eating and going to the toilet. The patient was still completely mute. After two weeks on treatment, he started responding with one-word answers. Along with clinical assessment, the response was also measured with the help of psychometric tools, the Positive and Negative Syndrome Scale (PANSS) and the Brief Psychiatric Rating Scale (BPRS). |
pmc-6592464-2 | Patient B, the biological brother of Patient A, a 30-year-old male, presented on the same day with an identical history of mutism, decreased psychomotor activity, posturing along with a refusal to drink or eat, and lack of self-care for the past few months. The psychotic symptoms had developed gradually over two years, and there was a similar history of passing urine in the clothes for the last two months. The patient was in a catatonic stupor and did not respond to any commands either verbally or physically. Like his brother, he was also taken to spiritual healers which did not prove to be beneficial. Thus, in his first hospital admission, after a detailed history was taken and mental state and neurological examinations and relevant detailed investigations were made, a formal diagnosis of catatonic schizophrenia was made according to the criteria set by ICD-10. Features of echolalia, echopraxia, negativism, waxy flexibility, mitgahen/mitmachen or ambitendency were not evident.
The patient was started orally on both, olanzapine (10 mg a day) and lorazepam (1 mg twice a day). The response of the patient was measured clinically and the psychometric tools PANSS and BPRS were also used. He showed a quicker response to treatment with the maintenance of eye contact on the second day of treatment and started giving short answers to questions on the fifth post-admission day. Level of self-care was also relatively better than his brother at the time of discharge.
Investigations
Patient A and Patient B were biological brothers. On examination, their vital signs were within normal parameters. Neurological examination was grossly normal in both. To rule out any organic brain disease, hypothyroidism, or Wilson's disease, magnetic resonance imaging (MRI) brain full study, thyroid profile, serum ceruloplasmin levels, 24-hour urinary copper, and slit lamp examination for the detection of Kayser-Fleischer rings were done. All investigations were unremarkable.
Both the patients did not have any history of convulsions, head injury, a high-grade fever, dog bite, history of tuberculosis (TB) or TB contact nor any other features suggesting organicity. There was no history of substance use. The only identified psychosocial stressor was the intra-personal issues within the family. The physically and verbally abusive behavior of their elder brother led to highly expressed emotions in the family and disturbed the overall family dynamics. The pre-morbid functionality of both the patients was satisfactory and there was no apparent stress factor at work. |
pmc-6592466-1 | A 65-year-old male with end-stage heart failure presented with worsening shortness of breath for the past month. He had a history of atrial fibrillation and ischemic cardiomyopathy and was currently on milrinone infusion and post-CRT-D placement. At the time of admission, his vital signs were within normal limits. The physical exam was most notable for an elevated jugular venous pressure (JVP) up to the angle of the jaw and decreased breath sounds on the left side of the chest. A chest x-ray showed a large left-sided pleural effusion as shown in Figure . Initial escalation of diuretic therapy led to acute kidney injury. During right heart catheterization (RHC), the operator reported apparent right internal jugular vein (IJV) thrombosis based on an ultrasound exam. After cannulation of the left IJV and upon contrast injection, complete occlusion of the left subclavian vein was noted. RHC via femoral access revealed normal right heart filling pressure (right atrial pressure 6 mmHg), normal pulmonary capillary wedge pressure (10 mmHg), and decreased cardiac index (1.94 L/min/m2). Next, ultrasound evaluation of the right subclavian vein showed partial thrombosis. The patient was already on therapeutic anticoagulation for atrial fibrillation, so this treatment was continued to treat the subclavian deep vein thrombosis.
The left-sided pleural effusion noted at admission was evaluated via diagnostic thoracentesis; this yielded 2 L of cloudy fluid, so a pigtail catheter for continuous drainage was placed. The pleural fluid studies were normal with the exception of triglycerides (1177 mg/dL), which was consistent with chylothorax. Because of continued high output (1-2 L/day) from the chest tube, the patient was started on a low-fat diet.
Next, a venogram was used to assess for venous obstruction as a possible cause of the chylothorax. The venogram revealed occlusion of bilateral brachiocephalic veins as shown in Figures -. The occluded right brachiocephalic vein was successfully recanalized after angioplasty using a 12 mm balloon as shown in Figure . However, CRT-D wires prevented intervention on the left brachiocephalic vein. After this intervention, chest tube output decreased to a negligible amount, so the tube was removed.
For the next five days, the patient was monitored with serial chest x-rays, but there was no reaccumulation of pleural effusion as shown in Figure . Therefore, we decided not to intervene upon the left brachiocephalic vein thrombosis. The patient was eventually discharged home on apixaban. |
pmc-6592467-1 | A 68-year-old African-American male with recent right posterior limb stroke (on daily aspirin 81 mg and clopidogrel 75 mg), chronic kidney disease (CKD) stage III, heart failure with reduced ejection fraction (HFrEF, ejection fraction 35-40%), hypertension (HTN), gout, prediabetes, and hyperlipidemia presented to the emergency department (ED) with persistent nausea and vomiting. He reported initial onset of symptoms six weeks prior to presentation, with nausea and occasional bouts of non-bloody non-bilious emesis. Of note, he had presented to the ED four weeks prior with similar symptoms, and had been discharged with omeprazole 40 mg daily and ondansetron 4 mg as needed for suspected gastroesophageal reflux disease (GERD). Symptoms improved for roughly one week, but gradually returned. He was able to tolerate his meals throughout the day, however reported developing “cramping” abdominal pain around dinner with symptoms exacerbated by laying down, not associated with eating. He reported a three-week history of brown diarrhea (two episodes per day), denying any bleeding (hematochezia, hematemesis, or melena). Per chart review, he had lost ~30 pounds in the past 12 months (213 lbs to 186 lbs on presentation). He denied changes in medications, recent travel, sick contacts, or changes in diet.
Presenting vitals were significant for temperature 97.9 degrees Fahrenheit (normal range: 97.7-99.5 degrees Fahrenheit), pulse 76 (normal range: 60-100), blood pressure 114/71 (normal: 120/80), and respiratory rate 20 (normal range: 12-20). Complete blood count was significant for anemia with a hemoglobin 9.9 g/dL (Hgb 11.9 two months prior, normal range: 13.5-17.5 g/dL for males), and hematocrit 30.9% (normal range: 45-52% for males). Renal function panel (RFP) was remarkable for blood urea nitrogen (BUN) 24 mg/dL (normal range: 7-20 mg/dL), creatinine (Cr) 2.1 mg/dL (normal range: 0.6-1.2 mg/dL), otherwise within normal limits (patient’s baseline renal function was BUN/Cr 14/1.0). Computed tomography (CT) imaging of the abdomen and pelvis without contrast obtained in the ED demonstrated a significantly distended stomach, concerning for potential gastric outlet obstruction with several subcentimeter pulmonary nodules identified bilaterally. Rectal exam revealed heme positive with dark maroon blood. The patient was admitted to medicine for further evaluation.
Due to concern for gastric obstruction, GI performed esophagogastroduodenoscopy (EGD), which revealed a short transversible stricture at the duodenal sweep (Figure ) and a normal 2nd duodenal portion, with multiple cold forceps biopsies taken. At this time, the differential diagnosis per gastrointestinal (GI) team included peptic ulcer disease (PUD)-associated stenosis (given distension and atrophic stomach mucosa) vs obstruction from adhesion from abdominal surgery (patient had a history of a gunshot wound to the abdomen requiring surgical repair and colostomy in 1979) vs gastroparesis from uncontrolled type 2 diabetes (patient’s hemoglobin A1c was 15.6% in 2013) vs malignancy. Preliminary pathology from EGD biopsy was concerning for malignancy, so triple phase CT of pancreas with and without contrast was obtained for further evaluation. CT results were significant for severe gastric distention with abnormal wall thickening in the proximal duodenum (first and proximal second portion) consistent with a localized mass, specifically abnormal soft tissue 7.7 cm x 4.6 cm encasing the common hepatic artery and the origin of gastroduodenal artery, and punctate/subcentimeter foci of arterial enhancement in the left/right hepatic lobes with a few nonspecific mildly enlarged periportal lymph nodes (Figure ). Pathology results were significant for moderately differentiated adenocarcinoma involving small bowel, involving mucosa with no intact surface epithelium, and separate fragments of small bowel mucosa uninvolved with no dysplasia (Figure ). Based on clinical/radiologic correlation, it was later revealed to be a primary small bowel adenocarcinoma.
Surgery for tumor resection was contraindicated given the encasement of the hepatic and gastroduodenal arteries by the duodenal mass. Given the patient's ongoing vomiting in the setting of severe duodenal stricture, gastroenterology performed another EGD with successful placement of a 22 mm, 6 cm long uncovered metal stent placed at the distal duodenal bulb. The day after endoscopy, the patient was tolerating low residual diet well.
The patient's malignancy was unable to be accurately staged, given that suspicious hepatic and lung nodules concerning for metastases were too small to biopsy. Based on their recommendations, the patient was set to receive folinic acid, fluorouracil, and oxaliplatin (FOLFOX) as an outpatient. Prior to discharge, a right internal jugular Mediport was placed under ultrasound/fluoroscopy guidance, a baseline echocardiogram was obtained (EF 35-40% in 12/2017) which revealed intact left ventricular systolic function (EF 50-55%), labs were obtained and revealed an elevated carbohydrate antigen (CA) 19-9 (88 U/mL, normal range: 0-37 U/mL), carcinoembryonic antigen (CEA) within normal limits (1.6 ng/mL, normal range: <3 ng/mL), lactate dehydrogenase (LDH) within normal limits (120 U/L, normal range: 100-190 U/L). Pathology was also sent for Herceptin (Her) 2 and microsatellite instability (MSI) testing. The patient was hemodynamically stable and medically clear for discharge, and instructed to follow up with oncology outpatient for initiation of chemotherapy. |
pmc-6592468-1 | A 63-year-old male presented to the hospital with chest pain. His extensive cardiac history included multiple myocardial infarctions, severe triple vessel CAE, and recently a thrombus occluding flow through the second obtuse marginal artery. Due to the thrombus, he was initiated on warfarin to supplement the clopidogrel he was already taking.
Preceding this hospitalization, the patient underwent a colonoscopy prior to which he discontinued his warfarin while being bridged with enoxaparin prior to the procedure. He had no complications up to and throughout the colonoscopy. As instructed, he resumed his warfarin but was not bridged post procedure. The following day, he developed chest pain radiating to his neck, diaphoresis, and dyspnea similar in presentation to his past myocardial infarctions. He arrived at the emergency department with no ST changes on electrocardiogram and was admitted to the hospital with a diagnosis of NSTEMI with a troponin peaking at 14.80 ng/mL. His INR was also subtherapeutic at 1.1. The patient was administered aspirin and clopidogrel and started on a heparin drip. Left heart catheterization showed severely ectatic vessels with a patent prior right coronary artery stent (Figures -). There was no evidence of acute coronary occlusion. With medical management, the patient became chest pain and dyspnea free.
Due to the NSTEMI with transient chest pain and no new obstructive coronary artery disease, the patient was thought to have experienced a thromboembolic event involving the coronaries. He was restarted on warfarin while being bridged with enoxaparin injections until his INR was again therapeutic. There were no further events of chest pain, and resolution of troponin levels was seen. |
pmc-6592470-1 | Our patient is a 17-year-old, previously healthy female, who was admitted to our general medicine ward nine months ago with a history of a fall from her school chair. The patient suffered a minor scratch and experienced sudden sharp pain in her left hand but could not localize the pain site. Post the incident, she was taken to a local dispensary where a cast was applied to her left forearm due to suspicion of a fracture. However, despite the cast, her pain increased sharply in one week, which became intolerable. The X-ray done at the local dispensary did not reveal any fracture or abnormality in her hand. Upon removal of the cast, diffuse swelling was noted on the dorsal surface of her left hand with crepitations due to gas accumulation under her skin tissue, which was spreading upwards at a rapid pace (Figures -).
She was immediately referred to a tertiary care hospital, where a skin biopsy confirmed gas gangrene by the culprit Clostridium perfringens. As per protocol, she was administered IV benzylpenicillin and was further instructed to comply with oral clindamycin and rifampicin for 22 days. However, no significant improvement was seen after an extensive 22-day regime. In fact, her condition had further deteriorated due to the accumulated gas under her skin, which now also involved other areas of her body such as the face, right hand, trunk, left leg, suprascapular region, and the pre and post-auricular as well as the thoracolumbar region. An early decision regarding amputation was made by the surgeon, but her parents had refused the surgery. Five escharotomies were performed along with the recommended course of extended spectrum antibiotics, but no significant improvement was seen and the patient continued to experience pain and gaseous crepitation at major areas of her body. Fortunately, hyperbaric oxygen therapy, along with antibiotics, was administered, which led to a significant improvement in her condition. However, after 40 sessions of hyperbaric oxygen, she started experiencing adverse effects such as ear blockage, bleeding from the root ends of her hair, and pain in the neck region and both upper limbs for a brief period of time; these were managed conservatively. Currently, our patient has undergone a total of 139 sessions of hyperbaric oxygen therapy along with various antibiotics, and yet, her condition remains stagnant. |
pmc-6592471-1 | A 70-year-old Caucasian male with a medical history significant for long-standing ICM with HFrEF (EF = 40% w/ grade I diastolic dysfunction), chronic kidney disease (CKD) stage III B, and hypertension presented to the emergency room (ER) with complaints of acute onset non-radiating exertional chest pressure, orthopnea, and shortness of breath (SOB). Eight months prior, the patient had presented with similar symptoms and was treated medically for an acute exacerbation of his HF (New York Heart Association Class III). Physical examination revealed 2+ bilateral pitting pedal edema and diffuse crackles on lung auscultation. Review of outpatient medications revealed optimized HFrEF guideline-directed medical therapy and the patient endorsed compliance. Initial workup was significant for notable elevations in N-terminal-pro hormone B-type natriuretic peptide (NT-proBNP) (to >4000 pg/mL) and low suspicion of the acute coronary syndrome (ACS) from unchanged electrocardiogram (ECG) findings (Figure ) and stable cardiac enzyme levels. Subsequent chest x-ray (CXR) was significant for signs of pulmonary edema including prominent cardiomegaly. The patient was admitted for acute exacerbation of HF and underwent successful intravenous (IV) diuresis, and discharged two days after admission. He stated the resolution of symptoms at the time of discharge. Echocardiography was considered appropriate for outpatient follow-up.
However, the patient returned to the ER five days after initial discharge with complaints of SOB and similar non-radiating chest pressure now present at rest. He was admitted for observation given persistent chest pain in the setting of significant cardiac history. Diagnostic workup included ECG, which was significant for new T-wave changes in the inferior leads concerning for possible ischemia (Figure ) and transthoracic echocardiogram (TTE), which was significant for further reduction in LV systolic function with EF noted to be 30-35%, with an akinetic apex. Additionally, an immobile 1.6 cm x 1.4 cm echo density was found in the LV apex suggestive of an LV thrombus (Figure ). Compared to the patient's prior cardiac imaging, TTE performed 20 months prior showed mild global LV hypokinesis with EF 35-40% without evidence of LV thrombus. Cardiology was consulted and recommended anticoagulation with warfarin for three months as well as titration of a long-acting nitrate for better control of anginal symptoms. The patient was discharged in a stable condition after medication optimization. |
pmc-6592472-1 | A 19-year-old female with a past medical history significant for long-standing Sweet syndrome requiring multiple emergency department visits presented to the emergency department with generalized muscle and joint pain and a diffuse outbreak of papules and vesicles. Her condition had been refractory to corticosteroids, colchicine, dapsone, adalimumab, abatacept, infliximab, etanercept, azathioprine, leflunomide, lenalidomide, and methotrexate, and was being managed with tocilizumab. The patient's condition was consistent with an acute exacerbation of Sweet syndrome and she was treated and discharged on a 40 mg prednisone taper.
Two days after this visit, the patient returned to the emergency department with worsening muscle and joint pain and a new eruption of diffuse skin lesions. Vital signs revealed a temperature of 36.7°C, pulse of 104 beats per minute, blood pressure of 139/90 mmHg, respiratory rate of 18, and oxygen saturation of 99% on room air. Physical examination revealed tender, erythematous, and ulcerating papules and pustules scattered over the trunk, bilateral upper and lower extremities, and face. Laboratory workup was notable for a leukocyte count of 16,800 cells/μL in the setting of recent steroid use, platelet count of 411,000 platelets/μL, c-reactive protein of 1.15 mg/L, and erythrocyte sedimentation rate of 37 mm/h.
The patient was admitted and started on 250 mg of methylprednisolone twice per day and colchicine 0.6 mg twice per day but continued to develop new lesions on her face, lower back, and tongue. Pain management was attempted with acetaminophen, gabapentin, tizanidine, duloxetine, and toradol, and ultimately the patient’s pain was controlled with hydromorphone 4 mg taken every three hours as needed. The patient was given 100 mg of anakinra and her skin lesions began to improve. She was discharged with oral pain medications after a seven-day inpatient stay and followed up with outpatient rheumatology for continued treatment. |
pmc-6592473-1 | We present a 67-year-old Hispanic female with stage II B (T4aN0M0) melanoma of the clitoris. The patient initially sought medical treatment for her condition in January 2015 at which time her chief complaint was a pigmented vulvar lesion over her clitoris that occasionally bleeds. She stated that over the past month the lesion began to grow peripherally and then acquired a very dark color. The patient's past medical history included hypothyroidism, hypertension, hyperlipidemia, and gastritis. Her past surgical history included total hysterectomy and left breast lumpectomy of a benign cyst.
The patient underwent local excision of the mass and subsequent pathology revealed malignant melanoma thickness: 8.0 mm; invading reticular dermis; ulceration: none; margins: free of involvement; lymphovascular or perineural invasion: none; and microsatellites: none. The patient underwent a re-excision on February 5, 2015, which was negative for melanoma. A staging positron emission tomography (PET) was negative for metastasis on March 11, 2015. On April 2, 2015, the patient underwent lymphoscintigraphy, which allowed localization and subsequent biopsy of the left inguinal SLN (Figures -). The left inguinal SLN was negative for metastatic melanoma, confirmed with immunohistochemical stains for Malan-A and S-100. Treatment options presented by the patient’s oncologist included observation or clinical trial of high dose interferon for one year. Because the patient had good pathological tumor features, was lymph node negative, and had social environment limitations, and considering that interferon therapy has no proven survival benefit, it was opted to keep her under observation.
On a six-month routine follow-up, the patient reported that for the past month she felt 'as if she has a piece of paper hanging from her vagina', and a constant burning pain on the anterior surface of her vulva and dyspareunia; however, physical exam showed no sign of recurrence and she was referred to gynecology with negative pap smear and mammogram. At one-year follow-up on April 26, 2016, the patient remained asymptomatic; repeat PET scan was negative, and no local inguinal nodes or masses were noted. |
pmc-6592705-1 | In 2018, a 33-year-old patient, Gravida 3, Caesarean 2, was evaluated in the 16th week of pregnancy. During the physical examination, tumour was palpated in the retroareolar region. This tumour was of increased consistency, with a maximum diameter of approximately 10 cm, irregular margins and clinically negative axilla. Needle biopsy: infiltrating ductal carcinoma, histological grade 3. Immunohistochemistry results: oestrogen receptor-positive (35%), progesterone receptor-positive (85%), HER2/neu-positive (Score 3+), Ki67 = 37%. Whole-body nuclear magnetic resonance without contrast found images consistent with hepatic metastasis of segment V measuring 29 mm () and millimetric metastases in the right iliac bone. Genetic test was negative (BRCA 1 and 2 not mutated).
The patient received chemotherapy after cardiological assessment with electrocardiogram (epirubicin 90 mg/m2 + cyclophosphamide 600 mg/m2) for four cycles during pregnancy. Treatment led to partial breast tumour remission and complete response of the lesion in the iliac region but the hepatic lesion increased in size. Dosages were calculated based on body surface area using patient weight at chemotherapy. The last cycle was administered 5 weeks before delivery to avoid maternal and child toxicity at birth.
This tumour was HER2-positive but anti-HER2 therapy is contraindicated during pregnancy. This case was thus discussed in a meeting of a multidisciplinary team, which decided to anticipate delivery. At 35 weeks and 4 days, 4 weeks after the last chemotherapy cycle, a healthy child was born weighing 2,345 g and measuring 49 cm. The patient had a scheduled caesarean section due to her obstetric history of two prior caesarean births. Pathological examination of the placenta was negative.
The patient continued treatment with trastuzumab and docetaxel for eight cycles. Whole-body nuclear magnetic resonance without contrast after chemotherapy ended found: breast lesion reduced by more than 50% and the size and functionality of the hepatic lesion reduced. The patient continued treatment with trastuzumab + pertuzumab, Decapeptyl and exemestane. Whole-body nuclear magnetic resonance 1 year later found: complete remission of hepatic () and bone lesions. Breast ultrasound found two millimetric formations measuring 10 and 7 mm in the upper outer quadrant of the right breast.
The multidisciplinary team and the patient met to discuss surgery. The patient then had a mastectomy with nipple-areola complex preservation, placement of a definitive breast prosthesis and contralateral mastopexy. A biopsy of sentinel lymph nodes was negative. Pathological examination found lobular in situ neoplasia (LIN2) associated with fibrosis.
The patient enjoys good health 22 months after diagnosis, is in excellent condition and free of disease, with a normal echocardiogram. |
pmc-6592707-1 | We present the case of a 36-year-old woman, with insulin resistance, without a family history of breast cancer, who consulted for a 6-month evolution self-detected left breast nodule associated with skin retraction. At the physical exam, there was a 20-mm palpable mass retracting the skin at the lower-inner quadrant (LIQ) of the left breast, without clinically evident axillary adenopathies. The patient was studied with mammography [] and breast ultrasound [], which showed a spiculated mass of 29 × 24 × 14 mm at the LIQ of left breast, with the increased flow at doppler, diagnosed as BIRADS-5. A core biopsy was performed, demonstrating a poorly differentiated invasive ductal carcinoma with positive oestrogen receptor (99%; ++/+++), positive progesterone receptor (90%; +++), positive human epidermal growth factor receptor type 2 (HER2) 3+, fluorescence in situ hybridisation for HER2+ and Ki-67 30%. The staging study demonstrated an osteolytic lesion compatible with sternal metastasis evident in computed tomography (CT), positron emission tomography (PET)/CT and magnetic resonance imaging (MRI) []. The staging was completed with sentinel lymph node biopsy, obtaining six lymph nodes without metastasis. The primary lesion was marked with two metallic clips guided by ultrasound. The patient completed neoadjuvant ST with Doxorubicin, Cyclophosphamide, Paclitaxel, and HER2-directed therapy with Trastuzumab and Pertuzumab, with a complete clinical response at physical exam and images []. Later, she underwent left partial mastectomy, using percutaneous hookwire for the location of the metallic marker clips. The definitive biopsy demonstrated an area of 27 × 25 × 15 mm of scarring substitutive fibrosis associated with isolated microfocus (less than 1 mm) of moderately differentiated invasive ductal carcinoma with negative margins. The study of residual tumour load reported 1% invasive carcinoma and 0% intraductal carcinoma in situ. Two months after the surgery, LT with radiotherapy was completed. The breast was treated with tangential X-ray fields of 6 and 18 MV, the supraclavicular and left axillary region with a right anterior oblique field, and the internal mammary territory and sternum with an array of photons of 18 MV and electrons of 9 MeV, completing in all areas a dose of 50 Gy in 25 fractions in 5 weeks and then a boost of 10 Gy in 5 fractions over the tumour bed. Subsequently, it was decided to complete ST with Trastuzumab and Pertuzumab, in addition to pharmacological ovarian suppression with Triptorelin plus Tamoxifen. The HER2-directed therapy will be maintained until the progression of the disease or toxicity. |
pmc-6592830-1 | A 34-year-old Caucasian male presented with the incidental finding of anemia during a preliminary evaluation for rheumatoid arthritis. The patient was asymptomatic with the exception of a three-month history of wrist and ankle joint pain. Past medical history was positive for only a three-year history of occasional spotty, painless rectal bleeding attributed to internal hemorrhoids. Physical exam findings were positive for mild extremity pallor and positive fecal occult blood test. Hematologic studies revealed a significant microcytic, hypochromic anemia with severe iron deficiency. Laboratory studies revealed no evidence of vitamin deficiency, hemolytic activity, hematuria, hypothyroidism, or clotting factor disorder. Erythrocyte sedimentation rate (ESR), rheumatoid factor, and cyclic citrullinated peptide 3 (CCP3) were elevated supporting the diagnosis of underlying rheumatoid arthritis. On further questioning, the patient revealed that he had been utilizing an average of 2000 mg of ibuprofen daily during the previous several months in an attempt to control his joint pain. He was evaluated for a potential upper gastrointestinal bleed with an esophagogastroduodenoscopy (EGD), which found no evidence of active bleeding. As the patient continued to have decreasing hemoglobin levels, he was evaluated for a lower gastrointestinal source of bleeding by colonoscopy, which revealed an 8 cm circumferential mass at the anal verge (Figure ).
Pathological evaluation of biopsy samples revealed a moderately differentiated invasive adenocarcinoma. The patient had no family history of colorectal cancer or major associated risk factors, such as obesity, smoking history, heavy alcohol use, diabetes mellitus type 2, or a history of inflammatory bowel disease. Following discharge, positron emission tomography (PET) scan showed extensive metastatic disease to multiple regional lymph nodes as well as multiple suspicious hepatic lesions and bilateral pulmonary nodules. Due to the poor prognosis, recommended treatment consisted of folinic acid, 5-fluorouracil, oxaliplatin (FOLFOX-4) along with palliative radiation. |
pmc-6592840-1 | A 20-year-old male with a history of intravenous (IV) drug abuse presented with progressively worsening shortness of breath and one week of flu-like symptoms. He was febrile and hypoxic on presentation. Chest X-ray showed diffuse infiltrates and CT scan of the chest was concerning for septic emboli. No vegetations were seen on transthoracic echocardiography (TTE) or transesophageal echocardiography (TEE) and blood cultures yielded no growth. CT scan of the abdomen was significant for hepatosplenomegaly and laboratory findings revealed acute kidney injury (AKI), elevated liver enzymes, and pancytopenia. Tests for hepatitis B, C, and human immunodeficiency virus (HIV) were negative. The patient developed worsening hypoxic respiratory failure, hypotension, and fevers warranting transfer to the medical ICU for intubation, aggressive fluid resuscitation, vasopressor support, and broad-spectrum antibiotics. He also required multiple blood and cryoprecipitate transfusions for anemia and hypofibrinogenemia. The diagnosis of HLH was entertained and further workup revealed a ferritin level of 104,940 ng/mL and LDH of 4,099 U/L. HLH was confirmed on hospital day 10 with a bone marrow biopsy revealing hemophagocytic histiocytes. A quantitative Epstein-Barr virus polymerase chain reaction (EBV PCR) test revealed >1,000,000 copies of viral DNA/mL. The patient responded well to the HLH-94 protocol with methylprednisolone and bi-weekly etoposide. Rituximab and ganciclovir were added for EBV viremia. Due to worsening renal failure, continuous renal replacement therapy was initiated on day 10 of hospitalization for five days. After two weeks of management at our facility and another week at an outside hospital, he recovered and was discharged home with close follow-up. He has remained relapse free now for 13 months. |
pmc-6592840-2 | A 50-year-old female with a history of HIV and non compliance with highly active antiretroviral therapy (HAART) presented with one month of confusion, fevers, fatigue, and night sweats. Laboratory findings on admission were significant for hemoglobin of 4.6 g/dL, lactate of 2.8, and INR of 3.9 with normal liver function tests (LFTs). Her CD4 count was 51/mm3, HIV viral load less than 20 and leukocyte count otherwise normal. Hemoglobin and hematocrit responded to blood transfusions but no source of bleeding was identified. The patient remained febrile and hypotensive despite coverage with piperacillin-tazobactam, vancomycin, trimethoprim-sulfamethoxazole and acyclovir. Cultures remained unrevealing but her course was complicated by Clostridium difficile infection on day 4. On day 6 of hospitalization, she was transferred to the medical ICU requiring vasopressors and was intubated for worsening encephalopathy. MRI of the brain at this time suggested HIV encephalitis and abdominal CT showed splenomegaly and multiple hypodense lesions in the liver and spleen. She developed progressive oliguric renal failure for which hemodialysis was initiated on hospital day 9. Testing for viral pathogens revealed 64,000 copies of EBV DNA per mL, and serum ferritin was elevated at 2,512 ng/mL. Her platelet counts also fell gradually to 17,000/uL from normal levels on admission. HLH was suspected but treatment was not initiated as she only met four of the eight criteria for diagnosis. A bone marrow biopsy resulted on day 11 of hospitalization, confirming the presence of hemophagocytic cells. She was immediately started on HLH-94 protocol with etoposide and dexamethasone. Despite treatment, the patient’s hypotension, acidosis, and renal failure worsened. She did not tolerate hemodialysis despite vasopressor support and the family agreed to withdraw care. The patient passed away on day 12. Her autopsy report also showed evidence of Hodgkin’s lymphoma in her liver and spleen, which was a new diagnosis. |
pmc-6592840-3 | A 57-year-old male with a history of Crohn’s disease previously on tumor necrosis factor (TNF) inhibitor therapy presented to the hospital with multi-organ failure and pancytopenia. Additional laboratory findings revealed low fibrinogen of 43, elevated ferritin of 108,416 ng/mL, elevated liver enzymes, and hyperbilirubinemia. Viral testing was negative for EBV and HIV. Due to the development of worsening oliguric renal failure, dialysis was started on day 2 of hospitalization. The diagnosis of HLH was made on day 5 of hospitalization based on clinical findings and bone marrow biopsy confirming hemophagocytic histiocytes. HLH-94 protocol was initiated with etoposide and dexamethasone. His liver function panel, LDH and ferritin levels all improved dramatically with treatment. However, on hospital day 35, the patient developed a severe gastrointestinal (GI) bleed requiring multiple transfusions. Upper and lower endoscopies were unable to locate the source of bleeding. His renal function failed to recover throughout the hospitalization and he remained dialysis-dependent. Furthermore, the patient was later noted to have proximal intestine as the source of bleeding, but he was a poor surgical candidate and after a complicated course, on hospital day 41, his family decided to shift goals of care towards comfort measures. Despite exhibiting signs of recovery from HLH, the patient passed away on hospital day 49 from complications of hemorrhagic shock. |
pmc-6592841-1 | A 68-year-old African American male presented to an outpatient dermatology clinic in November 2018 for evaluation of numerous skin-colored papules on his face. The patient had a history of hepatitis C that was successfully treated in November 2015. He was diagnosed with hepatocellular carcinoma in April 2016 and underwent laparoscopic ablation in May 2016. Routine imaging did not show any progression of disease for approximately two years. In October 2017, he was diagnosed with a gastrointestinal stromal tumor. He was started on imatinib 400 milligram (mg) daily in April 2018 and did not experience any cutaneous side effects.
Despite prior negative liver imaging after his ablation, routine magnetic resonance imaging in July 2018 revealed new liver masses. In August 2018, a liver biopsy confirmed well differentiated hepatocellular carcinoma. In September 2018, the patient was started on sorafenib at a palliative dose of 200 mg twice daily. During this time, he continued imatinib therapy.
Approximately two weeks after initiating sorafenib, he developed a sudden facial papular eruption. The papules were nonpruritic and nontender with no associated photosensitivity. He denied a history of similar papular eruptions in the past. Aside from sorafenib, there were no new medications, supplements, or hazardous exposures. He denied other cutaneous manifestations such as hair loss, palmar erythema, or desquamation.
Dermatologic examination revealed monomorphic skin-colored to erythematous comedonal papules diffusely present on the forehead, glabella, nose, cheeks, root of the helix and chin (Figures , ). There were a few inflammatory papules identified. The upper and lower eyelids and upper cutaneous lips spared. There were no inflammatory papules or pustules identified. There was no drainage, bleeding, erosion, or crust. There were no lesions on the trunk or extremities, and the acral surfaces were unaffected.
Given the temporal relationship between sorafenib initiation and the facial acneiform eruption, sorafenib was implicated as the causal factor. This cutaneous adverse event was not severe enough to warrant medication discontinuation. The patient was prescribed tretinoin cream and clindamycin gel. After two months of topical treatment, he had modest improvement of his cheeks and chin but no reduction in the forehead lesions. |
pmc-6593324-1 | In February 2016 a 22-month-old girl, who was living in Qom’s downtown, was admitted to Hazrate-E-Masoume Hospital with irregular prolonged fever, cough and loss of appetite for about one month. In the initial follow-up, the cause of fever remained unrecognized and the patient was referred to the hospital, accordingly. Based on her parent’s statement, the child had travelled to Dastgerd village, in Kahak district, south of Qom Province, in November 2016, two months before clinical signs appear.
In early clinical examinations, the patient’s throat, ears, heart and lungs were functioning normally. Abdominal ultrasonography showed normal liver tissue and enlarged spleen with diffused nodules and 14.5 mm spleen span (
). Blood smear examination showed hypochromic microcytic anemia with white blood cell and platelet number reduction (
).
Serological tests for human immunodeficiency virus (HIV), hepatitis and malaria showed negative results. Blood culture, tuberculin test and thoracic radiography showed no specific cause for the fever. Due to associated fever with enlargement of the spleen and pancytopenia, Direct Agglutination Test (DAT) was performed to detect anti-Leishmania antibodies, which showed positive result with a high titer of anti-
L. infantum antibodies as 1:6400 which was confirmed with Indirect Immunofluorescence Assay (IFA>1:640).
After diagnosis, Amphotericin-B injection was prescribed at 1 mg/kg for the first day, increased to 5 mg/kg during one week. The last dose was continued until day 10. As soon as treatment began, the patient’s fever reduced and the patient’s general state improved. In the next follow-up, two weeks later, the blood cell count had risen and the patient was considered successfully treated. |
pmc-6593324-2 | In April 2017 a 26-month-old girl was admitted to Hazrat-E-Masoumeh Hospital in Qom. The patient lived in Qom city, and had no history of travelling to VL endemic regions since she was born. The patient presented with an unknown, persistent fever, anorexia, and general weakness, which had started four months ago, not responding to antibiotic therapy. The patient had some bruises on her abdomen and legs that appeared a month earlier, which caused the physicians to suspect anemia and leukemia.
Ultrasonography demonstrated mild enlargement of the spleen (
). Examinations showed reduction in all blood elements (
). The results of typical serological tests were negative. Bone marrow aspiration was evaluated because of pancytopenia in which no blast cell was seen. Then, due to observation of amastigotes of
Leishmania parasite (Leishman-Donovan bodies) within bone marrow macrophages, and the positive DAT result (>1:3200), visceral leishmaniasis was diagnosed (
). Therefore, Amphotericin-B treatment was initiated with dose of 1 mg/kg for 21 days. After four days, the patient’s fever disappeared, her general condition improved and blood cell number increased at the next month follow-up. |
pmc-6593414-1 | A 5-year-old Japanese boy presented to the dermatology department with multiple linear pigmentations on the arms and trunk. Linear brown verrucous papules on the left forearm were noticed at about 9 months after birth (Figure A), and nuchal pigment macules were recognized at 1 year old. Linear and whorled hyperpigmentation then appeared gradually on the patient's back, axilla, and chest (Figure B). There was no hyperkeratosis of the palms or soles. Woolly hair was observed locally on the scalp (Figure C). Other than the skin manifestations, the patient did not exhibit any other symptoms. Neither the patient's parents nor his sister had woolly hair or linear pigmentation. Histopathologically, a skin biopsy specimen on the axilla with linear pigmentation showed hyperkeratosis, hypermelanosis, acanthosis, and papillomatosis of the epidermis that was consistent with an epidermal nevus (Figure ). Genetic screening was conducted after obtaining written informed consent. Next-generation sequencing of the genomic DNA purified from the epidermis of the epidermal nevus enzymatically separated from the dermis using custom-targeted exome sequencing panels of the Haloplex target enrichment system. Sanger sequencing revealed an HRAS c.34G>A (p.G12S) mutation specifically in the epidermis but not in the dermis of the epidermal nevus and the blood (Figure ). Analyses of the mRNA determined the identical HRAS mutation in the hair roots of the woolly hair but not of the straight hair (Figure ). Echocardiography and abdominal ultrasound performed after genetic diagnosis showed no abnormal findings. |
pmc-6593507-1 | Case 2 (V-1 in Family 2) (Fig. b) carrying two pathogenic mutations (p.L950 fs and p.V1979_L1980delinsX) is a 21-year-old man and was born in a consanguinity family. He showed normal motor and psychological milestones. It was atypical that he had tremor in the right upper limb at the age of 16. He showed progressive difficulty in walking and memory notably in his 20s. On the neurological examination, left hand tremor, scissors gait, patellar clonus and increased muscle tone were observed. Muscle strength and tendon reflexes were normal in extremities. No rigidity and bradykinesia were observed. Baclofen was prescribed at a dose of 10 mg twice a day and his muscle spasms had been effectively relieved. The brain MRI showed corpus callosum thinning and an ‘ears of the lynx’ appearance (Fig. b). His father carried the heterozygous p.L950 fs mutation and his mother carried the heterozygous p.V1979_L1980delinsX mutation. |
pmc-6593507-2 | Case 3 (II-3 in Family 3) (Fig. c) carrying a reported homozygous pathogenic mutation in SPG5/CYP7B1 (p.R112X) is a 48-year-old female. Her birth history was normal with full-term delivery. At the age of 38, she began to experience stiffness in her lower limbers and gradually developed walking difficulty. Numbness and tingling were also noticed in her legs. When she was 46 years old, she presented dizziness and visual impairment. She developed dysarthria and dysphagia one year later. No muscle atrophy or autonomic symptoms were present. Physical examination revealed decreased muscle strength, increased muscle tone in the lower limbers, hyperreflexia in all limbs, and bilaterally extensor plantar responses. Hoffmann sign was observed in her right arm. Spinal MRI presented atrophy of spinal cord (T2-T10). All of her family members were carriers of the p.R112X mutation.
A novel homozygous missense mutation within SPG9/ALDH18A1 (p.S242 N) was found in a 32-year-old female (Case 4, IV-1 in Family 4) (Fig. d). She was a worker without exposure to any toxin. Her birth and developmental milestones were unremarkable. She could not walk fast and consistently since she was 10 years old and had an onset at the age of 20 with weakness of the lower extre mities. When she was 27 years old, she noted progressive weakness of the upper extremities. She developed agitation and irritability after pregnancy. No symptom of cutis laxa was observed. Neurological examinations revealed hypertonia and bilateral hyperactive deep tendon reflexes in the lower extremities. The EMG exhibited neuropathy. Brain MRI was normal. Her family members were not available to test. |
pmc-6593507-3 | Case 5 (II-2 in Family 5) (Fig. e) with a novel homozygous pathogenic SPG46/GBA2 mutation (p.D597fs) is a 26-year-old man. He denied any exposure to pesticides and other toxins. He experienced walking unstable and abnormal walking posture at age of 22. Pain of lower limbs was noticed when he was 25 years old. At the same time, he started to show psychiatric disorders such as delusion of persecution, anxiety, and fear. He exhibited representative pyramidal signs upon neurological examination. Muscle strength and sensation were normal. The EMG revealed multiple peripheral nerve damage. MRI scanning showed the brain, cervical, thoracic and lumbar were normal. Both of his parents carried the heterozygous p.D597fs mutation.
One known homozygous pathogenic mutation (c.759 + 1G > A) within SPG76/CAPN1 was identified in case 6 with AR-HSP (IV-3 in Family 6) (Fig. f) from a consanguinity family. Case 6 is a 34-year-old male patient with pure HSP. He suffered from walking problems at age of 20. As walking stiffness progressed, he showed dysarthria and dysphagia. His examinations showed a severe spastic paraplegia. He had an elder sister (IV-2 in Family 6) carrying the same homozygous CAPN1 mutation. Her walking problem was similar to the proband. His parents carried the heterozygous mutation (c.759 + 1G > A) with no symptom.
Two novel heterozygous pathogenic mutations (p.T55 M and p.S308 T) within SPG48/AP5Z1 were detected in a 60-year-old man (case 7, II-2 in Family 7) (Fig. g) with a two-year history of unsteady gait. He showed difficulty in walking stairs and running. Pyramidal syndromes of lower limbs including enhanced brisk patellar reflexes and ankle clonus were presented. Unilaterally Hoffmann sign and enhanced reflexes of upper limbs were also observed. Sensory and cerebellar signs were absent. The EMG showed neuropathy. Brain MRI revealed normal. None of his family members was available to test.
A novel homozygous mutation (p.Q486X) in SPG78/ATP13A2 was identified in case 8 (IV-2 in Family 8) (Fig. h). He is a 28-year-old male and his birth and development milestones were totally normal. At the age of 24, he presented spastic quadriplegia with pain. Neurological examinations revealed gait disturbance and increased muscle tone in his lower limbs. Hyperreflexia was observed in his extremities. Nystagmus was prominent. Muscle strength and sensory were normal. His brain MRI was normal. Electrophysiological studies showed reduced nerve conduction in the peroneal nerve and the tibial nerve. His parents and sisters were normal and all carried the heterozygous mutation (p.Q486X). |
pmc-6593533-1 | Our proband presented as a 3 year-old boy with developmental delay, choanal atresia, hypoparathyroidism, hypothyroidism, ptosis, renal cysts, sensorineural hearing loss, psoriasis, and polyarthritis that was diagnosed as JIA, psoriatic subtype. At onset, he had arthritis in bilateral knees and ankles, left hip, multiple metacarpals, and dactylitis in one toe (Additional file : Figure S1a). Magnetic resonance imaging of the bilateral ankles showed multiple sites of tenosynovitis and synovitis. He was HLA-B27 negative and ANA positive 1:640. He had no clinical immunodeficiency, with an appropriate response to childhood immunizations and normal serum immunoglobulin levels (Additional file : Table S1).
He was managed with intra-articular corticosteroid injections in bilateral knees and ankles that resulted in improved inflammation of both arthritis and psoriasis. He initiated maintenance therapy with methotrexate. He responded well to therapies, with a subsequent transient episode of ankle arthritis in the setting of an acute otitis media (Fig. a). He has low normal levels of total white blood cells, with absolute lymphocytes and CD4+ lymphocytes persistently around the lower limits of normal (Fig. a). Paralleling this, his CD3+, CD8+, and CD19+ lymphocytes have been around the lower limits of normal, with CD16&56+ lymphocytes overall normal (Additional file : Figure S1b). On therapy, he has had no unusual infections. |
pmc-6593540-1 | The patient was a 51-year-old woman (gravida 2, para 2) who felt itchiness in the right vulva for 3 months. She scratched at whiles and recently noted a small painful nodule in the right vulva. She went to a clinic for medical attention. She was given external medicine for alleviation but turned to be less effective. She was then admitted to a local hospital for further treatment. Gynecological examination revealed two pea-sized solid nodules with tenderness affecting the right labium majus. Clinically, they were suspected as Bartholin gland cysts, vulvar hematomas or papillomas. On surgery, one nodule was found to be located in the superficial dermis and the other in the deep subcutis, both measuring approximately 1 cm in maximum diameter. Considering benign lesion, marginal resection was performed. It was interpreted pathologically as a rhabdomyosarcoma, with proliferative fasciitis needed to be excluded. In view of potential further treatment, the pathological materials were sent to us for further confirmation. After the final diagnosis of PMHE was rendered, the patient was recommended to have a thorough radiological examination, including PET-CT. There was no neoplastic disease elsewhere. A three-month-follow-up showed no signs of local recurrence or metastatic disease.
Grossly, one specimen tagged “mass of right labium majus (epidermis)” consisted of a 1.5 × 1 × 1 cm fibroadipose tissue covered with a 1.5 × 1 cm elliptical skin. On cut section, there was a solid gray nodule, measuring 1.5 × 0.8 × 0.5 cm in size and was intermediate to firm in consistency. The other specimen tagged “mass of right labium majus (deep)” consisted mainly of adipose tissue, measuring 2 × 1 × 0.8 cm in total volume. On cut section, there was presence of solid grayish area, measuring about 1 cm in maximum size.
Microscopically, the “mass of right labium majus (epidermis)” was dermal-based (Fig. a, b), whereas the “mass of right labium majus (deep)” was located within the subcutaneous adipose tissue, assuming multinodular architecture (Fig. c). On high power, they were composed of fascicles or sheets of plump spindled to epithelioid cells with abundant eosinophilic cytoplasm, closely resembling rhabdomyoblasts (Figs. d, e). Focal storiform arrangement was also present (Figs. f). The tumor cells had oval to round vesicular nuclei with small nucleoli. Nuclear atypia is mild and mitotic activity was scarce (< 5/50 high power field). There was a prominent neutrophilic infiltration in the stroma. Coagulative necrosis was absent.
Immunochemically, tumor cells were diffusely positive for AE1/AE3, ERG and Fli1 (Fig. a, b), and partially positive for CD31 (Fig. c). The Ki67 index was about 2% (Fig. d). Intact staining of INI-1(SMARCB1) was retained. The tumor cells were negative for EMA, CD34, α-SMA, MSA, desmin, myogenin, MyoD1, calponin, ER and PR. The results of immunochemical study were summarized in Table . |
pmc-6593541-1 | She was a 45-year-old, white female, with a history of intestinal obstruction and ileocecal resection occurred in January 2006, followed by a histologic diagnosis of Crohn’s disease. In May 2007, she was admitted to the hospital for a reactivation of the inflammatory disease, the colonoscopy revealed an anastomotic recurrence, which was treated with steroids (prednisone, 25 mg daily). A daily diarrhea appeared in November 2007; at the same time, the patient suffered from chronic headache with non-steroidal anti-inflammatory drugs (NSAIDs) abuse, and chronic gastritis. A new admission was performed in April 2008 for a worsening of chronic diarrhea and headache (weight = 50 Kg, haemoglobin or Hb = 7.9 g/dl, haematocrit or Ht = 25.3%, C-reactive protein or CRP = 1.33 mg/dl, Erythrocyte Sedimentation Rate or ESR = 43 mm/h, Crohn’s Disease Activity Index or CDAI = 157). On admittance, the patient complained of abdominal pain and six bowel movements per day, with watery stools. Colonoscopy showed a narrow stenosis of the anastomosis, with large mucosal erosion, that did not allow the instrument progression (lack of visualization of the ileal mucosa). The patient was treated with steroids (prednisone, 50 mg daily) and azathioprine (100 mg daily). Due to the failure of previous therapies (including rifaximin), the patient started taking nabilone (1 mg/day) to control both diarrhea and chronic headache. Concurrent medications included mesalazine (1500 mg/day), lansoprazole (30 mg/day), sodium valproate (600 mg/day), prednisone (50 mg/day), citalopram (40 mg/day), azathioprine (100 mg/day), tramadol (15 drops as needed) and clonazepam (15 drops/day). After three months of treatment, nabilone was discontinued, the patient had one bowel movement per day, without blood or mucus in the stools (weight = 52 Kg, Hb = 9 g/dl, CRP = 1.69 mg/dl, ESR = 19 mm/h, CDAI = 82); no colonoscopy was performed. Three months after the end of therapy, the patient had 2 bowel movements per day, no abdominal pain, diarrhea and/or blood in the stools (weight = 52 Kg, Hb 11.7 g/dl, Ht = 34,3%, CRP = 0.23 mg/dl, ESR = 10 mm/h). The patient had no further diarrhea episodes, but she is still suffering from chronic headache, despite numerous therapeutic changes. |
pmc-6593541-2 | She was a white female, 54-year-old, with a history of Crohn’s disease since the age of 22, when an acute appendicitis surgery happened. She had undergone other abdominal surgeries, in 1986 (removal of 45 + 5 cm of bowel and ileocecal resection, latero-lateral anastomosis), in 1990 (resection of 36 cm of residual bowel, right colon and transverse colon, end-to-end anastomosis), and in 2004 (ileo-colonic resection of 20 cm and surgical removal of an abscess). The first symptoms of diarrhea occurred after the last surgical operation, the patient started to use loperamide tablets (2 mg), up to four daily. In 2010, an entero-cutaneous fistula appeared; it was successfully treated with adalimumab (discontinued due to mild hypertransaminasemia) and hyperbaric therapy. In July 2015, a new surgical scraping was performed because of the re-emergence of the fistula, along with an ileo-colonic anastomosis resection and ileostomy. The patient received a histologic diagnosis of rectal adenocarcinoma, treated with chemotherapy and radiotherapy. In January 2016, she returned to the hospital, due to a sepsis from methicillin-sensitive Staphylococcus aureus, an acute kidney injury and worsening of diarrhea (up to 10 bowel movements per day). On admittance, there was no abdominal pain. Weight = 42 Kg, Hb = 9.4 g/dl, CRP = 4.6 mg/dl, CDAI = 183. She was treated with parenteral feeding, antibiotic therapy (rifampicin and levofloxacin) and nabilone (1 mg per day), considering her severe malnutrition. She had watery stool and about 10 bowel movements per day. Concurrent medications included kaolin, loperamide (12 mg, daily) and nutritional supplement. After 3 months, nabilone was discontinued; she had only one bowel movement per day, without blood or mucus in the stools (weight = 45.5 kg). The symptoms did not reappear in the following three months. She had 4 bowel movements per day, with semi-solid stools, no evidence of blood or mucus. Weight = 45 kg. No adverse events were reported during and after nabilone treatment. |
pmc-6593541-3 | She is a 75-year-old, white female, with a history of melanoma resected from her right leg in 1989 and reactivated to inguinal lymph nodes in 2012. In November 2013, the patient underwent a spleno-pancreatic resection, due to pancreatic cancer; the post-operative course was complexed due to an entero-pancreatic fistula and intestinal obstruction. From March 2014, the patient began to complain of post-prandial diarrhea, not present when the patient was fasting. Colonoscopy did not show mucosal alterations, loperamide (2 mg, as needed) and pancreatic enzymes were not effective. In March 2015, a computerized tomography (CT) scan was performed, with no evidence of abdominal recurrence of melanoma. With the medical prescription of mesalazine and budesonide, in April 2015, the patient had a general improvement, the diarrheal symptoms decreased, and the results of stool cultures were negative. In October 2015, a metastatic pulmonary nodule was removed; the patient began chemotherapy the following month (dabrafenib, 300 mg daily), together with painkillers. Diarrhea reappeared, the patient had poor appetite (weight = 38 kg), therefore she started to take nabilone (1 mg/day) in April 2016. Concurrent medications included pregabalin (150 mg daily), dabrafenib (300 mg daily), trametinib (2 mg daily), tramadol (150 mg daily), budesonide (6 mg daily), rabeprazol (10 mg daily), mesalazine and pancreatic enzymes. Nabilone treatment lasted three months, the patient improved, and the diarrheal symptoms. Weight post-nabilone = 38 kg. No side effects were reported during and after treatment. Three months after the end of the therapy, the benefits remained. |
pmc-6593541-4 | Patient 4 is a 40-year-old, white male, afflicted by the consequences of an extended mesenteric thrombosis. On admittance, he also complained of pre-hepatic portal hypertension, cavernous transformation of the portal vein and esophageal varices (grade F1). In the history, the patient suffered from chronic hepatitis C virus infection. Diarrhea began in March 2013, the patient was suffering simultaneously from malabsorption (hypoproteinaemia with low albumin levels, hyposideraemia and decreased levels of pseudocholinesterase). Screening for celiac disease was negative, colonoscopy revealed no pathologies in act. There were no intestinal infections and no histologic or endoscopic features of IBD. Despite the introduction of mesalazine and steroids, the patient suffered from 8 bowel movements per day. For severe diarrhea and malabsorption, we started administering nabilone (1 mg/day) in June 2013 (Hb = 9.2 g/dl, platelets = 548,000/mmc, white blood cells or WBC = 4890/mmc, CRP < 0.2 mg/dl). Weight = 46 Kg. Concomitant medications included lansoprazole (60 mg, daily), levosulpiride (50 mg, daily), pregabalin (150 mg, daily), mesalazine (3200 mg daily), low molecular weight heparin (8000 U daily) and oxycodone (5 mg as needed). The therapy was discontinued in July 2013, the patient interrupted autonomously the intake of nabilone because of severe fatigue and mental confusion. At the end of the therapy, the patient reported 2–3 bowel movement per day, without blood or mucus (CRP < 0,2 mg/dl, no leucocytosis or piastrinosis). Weight = 49 kg. Side effects disappeared in the next three months, the patient reported 1 bowel movement per day (weight = 48.5 kg). Concomitant medications were unaltered. A second nabilone administration was denied to the patient due to the risk of adverse events. |
pmc-6593541-5 | She is a 71-year-old, white female, affected by systemic sclerosis. The diagnosis was done in June 2010, the first symptoms reported were polyarthritis and the Raynaud’s phenomenon (antinuclear antibody and rheumatoid factor tests positive). In that episode, the patient also reported GI bleeding due to a gastric antral vascular ectasia, treated with argon plasma coagulation and other medicines (levonorgestrel/etinilestradiol and octreotide), with a partial response. In August 2012, colonoscopy revealed the presence of inflammation and substenosis in the sigmoid colon. Diarrhea started in January 2015, she complained of 4 liquid feces evacuations per day, without the presence of blood, despite the simultaneous assumption of rifaximin, kaolin and lactic ferments. In August 2015, she was admitted to hospital because of severe diarrhea (10 liquid feces evacuations per day) and malabsorption with hypoalbuminemia, decreased levels of pseudocholinesterase (PCHE = 3071 UI/l), hypokalemia, hypocalcemia (blood calcium = 7.5 mg/dl), leucocytosis and mild anemia (WBC = 14,290/mmc, Hb = 12.1 g/dl). Weight = 45 Kg. Blood magnesium = 1.1 mg/dl, serum iron = 28 mcg/dl, serum ferritin = 24 ng/ml, CRP < 0.2 mg/dl. This episode was treated with rifaximin, mesalazine and budesonide, with a general improvement, but without controlling the diarrheal symptoms. The introduction of nabilone (1 mg daily, for five days, then 1 mg on alternate days) immediately improved the symptoms. Upon discharge the patient reported 3 evacuations per day, with semi-solid stools. Concomitant medications included levotiroxin (200 mcg daily), budesonide (9 mg daily, decreasing gradually over the following three months), rifaximin (800 mg daily for seven days a month), lansoprazole (60 mg daily), furosemide (25 mg daily) and tramadol (15 drops as needed). In September 2015, the patient reported a worsening of diarrhea; the clinical situation improved with increasing the dosage of nabilone (1 mg daily). Weight = 49 Kg. Daily bowel movements = 4. Nabilone therapy finished in November 2015. After three months the patient was stable, she had no abdominal pain, and reported 3 evacuations per day, without blood or mucus (weight = 50 Kg). No side effects were reported. |
pmc-6593541-6 | She is a 47-year-old, white female, affected by short bowel syndrome and chronic diarrhea, which had occurred after ileal and colonic resection. Diarrhea began in April 2008, after a surgical intervention, due to an intestinal obstruction. Histological investigations identified a tubular adenoma (dysplasia: low grade). In her history, the patient had undergone hysterectomy and bilateral annessiectomy because of uterine cancer, followed by radiotherapy. In 2006, she underwent a left unilateral nephrectomy, due to an adhesiolysis. On admittance, in March 2009, she had 8 bowel movements per day, no sign of inflammation (WBC = 7560/mmc, platelets = 184,000/mmc, CRP = 1.94 mg/dl) and nutritional values unaltered (serum proteins = 7.0 g/dl, serum iron = 48 mcg/dl, serum vitamin B12 = 222 pg/dl, serum folic acid = 11.60 mg/dl, serum pre-albumin = 20.0 mg/dl). Weight = 38 Kg. Having excluded gastro-intestinal infections and celiac disease, a high-calorie diet was started. Colonoscopy revealed no sign of inflammation and regular anastomosis. Initially, diarrhea was treated with loperamide (2 mg, as needed) and kaolin, with no benefit. Later, also octreotide therapy (0.1 mg, subcutaneously) failed to relieve diarrheal symptoms. Nabilone treatment (1 mg daily) lasted three months and proved to have partial control of symptoms (5 bowel movements per day). Concomitant medications included fosinopril (20 mg daily), paroxetine (20 mg daily), alprazolam (1 mg daily), lormetazepam (2 mg daily), alendronate (70 mg weekly), kaolin (two daily doses) and loperamide (8 mg daily). In June 2009, she had no abdominal pain but reported 5 bowel movements per day. Weight = 39 Kg. After three months, the patient continued to report 5 bowel movements/daily, she also reduced the loperamide dosage (2 mg daily). Weight = 37.5 Kg. No side effect and/or signs of addiction were reported during and after nabilone treatment. |
pmc-6593559-1 | A 76-year-old Japanese man was referred to our department with a several-week history of right inguinal pain and discomfort in his right femur that worsened with movement. Laboratory tests showed a normal white blood cell count and C-reactive protein level. Ultrasound and computed tomography examinations indicated a vermiform appendix in an inguinal hernia sac, with no remarkable findings of inflammation in the appendix (Fig. a, b). He was clinically diagnosed as having an AH without appendicitis. Reduction of the hernia was attempted under ultrasound but was unsuccessful. Thus, we planned combined TEP with mesh repair and laparoscopic appendectomy after laparoscopic reduction.
He was placed in a supine position and underwent general anesthesia by tracheal intubation. A laparoscopic transabdominal approach was initially performed after establishment of pneumoperitoneum. A 5-mm direct umbilical trocar and a needle forceps (Endo Relief™; Hirata Precisions, Chiba, Japan) were introduced into the upper right abdominal quadrant to inspect the hernia canal for the absence of appendicitis and reduce the appendix laparoscopically (Fig. ). This inspection revealed a 3 × 2 cm right external inguinal hernia defect with the appendix; no other intra-abdominal pathology was identified. The vermiform appendix was pulled out and placed in the abdominal cavity without tearing the appendix (Fig. ). Next, the hernia sac was reduced into the abdomen via the laparoscopic TEP approach. Our patient was placed in the 30° Trendelenburg position. The rectus muscle was lateralized and a Covidien Balloon Dissector (Medtronic, Minneapolis, MN, USA) was inserted preperitoneally from the umbilical incision of the skin to the symphysis pubis. The balloon was insufflated to open the extraperitoneal area. Additional trocars were introduced as follows: a 12-mm trocar in the initial umbilical incision of the skin and anterior right fascia of the rectus, a 5-mm trocar at the symphysis pubis in the midline, and a 5-mm midline trocar between the symphysis pubis trocar and the umbilical trocar. To cover the myopectineal orifice, Hesselbach’s area, and the femoral canal orifice, a 7.9- × 13.4-cm mesh (3DMax™ mesh; Bard, Murray Hill, NJ, USA) was fixed to Cooper’s ligament and the rectus muscle with an absorbable fixation device (AbsorbaTack™; Medtronic). Finally, we removed the trocars and newly inserted two 5-mm trocars at the umbilical region for the intraperitoneal operation with the initial use of needle forceps. The appendectomy was completed via a laparoscopic approach, and the appendix was removed in a sterile bag via the umbilical region. The total estimated blood loss was 5 mL, and the total operation time was 111 minutes. Our patient was started on intravenously administered cefmetazole at 2.0 g intraoperatively. A histopathological examination confirmed chronic appendicitis with fibrosis and inflammatory cells. Postoperatively, he was discharged and had an uneventful recovery. He was followed up at 6 months postoperatively. He had no recurrence of the hernia, and the wound had healed without inflammatory signs. |
pmc-6593573-1 | A 65-year-old male presented with a three month history of progressive left hip pain. His past medical history was noteworthy for a non-ischemic cardiomyopathy for which he underwent a heart transplant ten years prior to presentation. He had a history of osteoarthritis for which he had undergone bilateral hip replacements complicated by a left prosthetic hip infection with Cutibacterium acnes. His past history was also positive for rheumatoid arthritis, hypertension, and type 2 diabetes.
The first stage of his left hip revision after his first episode of prosthetic joint infection with C. acnes occurred pre-heart transplantation and he was treated with 6 weeks of vancomycin following hardware explantation. His second-stage hip revision occurred over a year later, following his heart transplant. His post-transplant course was otherwise uncomplicated, without any episodes of graft dysfunction, rejection, or infectious complications over the previous nine years. He was maintained on tacrolimus and mycophenolate mofetil since his transplant without recent corticosteroid exposure.
With regard to his present symptoms, along with the pain, he noted occasional night sweats. He reported receiving 2 hip injections for the pain (one into his hip joint and another into his trochanteric bursa, both on his left side) by his outpatient orthopedic doctor about 2 weeks prior to presentation that provided temporary relief. Sterile precautions were reportedly observed during in-clinic procedures. Following the injections, the patient noticed a progressive fluctuant area swelling of his left lateral thigh and hip. Aspiration of that area 4 days prior by his outpatient orthopedist yielded purulent-appearing fluid that was Gram stain negative for organisms, with no growth seen either on aerobic or anaerobic cultures. Three days prior to admission, he underwent hip arthrocentesis that showed cloudy fluid with 65,000 white blood cells per microliter and a differential of 95% polymorphonuclear neutrophils. Gram stain was negative, and no crystals were seen. Culture of the synovial fluid was later finalized as no growth. However, prosthetic joint infection was suspected and so the patient was admitted for surgery.
The patient was an active dog breeder (Yorkies, Maltese, and Morkies), with over 10 dogs at home at any one time, and had recently participated in the birth of several puppies. There was no history of illicit or injection drug use. He also noted being scratched on his legs by the dogs in the past, but could not recall any recent scratches or bites recently.
On admission, he was well appearing and comfortable at rest. All vital signs were normal and he was afebrile. He noted mild pain with passive and active movement of his left hip, however, he was able to ambulate. Oropharyngeal exam was unremarkable with good dentition. His bilateral shins had evidence of previously-healed scratches. On the lateral aspect of his thigh was a tender egg-sized swollen area of fluctuance and erythema, without increased warmth or obvious drainage or sinus tract.
Laboratory evaluation was notable for a peripheral white blood cell count of 6300 per microliter. Erythrocyte sedimentation rate and C-reactive protein levels were 63 mm/hour and 5.4 mg/dL, respectively. Hip X-ray did not show loosening or disruption of his prosthesis. He did not receive any antibiotics prior to surgery. Two sets of pre-operative blood cultures were drawn and finalized as no growth. Medications at the time of presentation included methotrexate (2.5 mg daily), mycophenolate mofetil (250 mg twice daily), and tacrolimus (1 mg twice daily). His diabetes mellitus was well-controlled with dietary changes and his most recent hemoglobin A1c measurement was 6.2%.
The area of the suspected abscess the lateral thigh was incised and drained. The proximal prosthetic body, femoral head, and acetabular liner were all removed, the joint was irrigated and debrided, and hardware was replaced in a one-stage fashion. Vancomycin and tobramycin-containing beads were placed. Intraoperatively, frank purulence within the joint was not observed. Five separate tissue specimens were sent for bacterial, fungal, and mycobacterial culture. Post-operatively, vancomycin and ceftriaxone were begun empirically pending further culture data.
Approximately 2-3 mm of each tissue submitted was embedded whole in fungal media. The remaining tissue from each site was ground in 1 mL Tryptic Soy Broth. Mycobacterial, fungal, and bacterial growth media were inoculated with ground tissue suspension. Gram, Acid Fast, and Calcofluor White stains were prepared from touch preps of intact tissue and ground tissue suspensions. All stains of tissue were negative for organisms. Bacterial cultures were incubated at 35 °C in a 5–10% CO2 incubator for aerobic cultures and in the BD BBL GasPak anaerobic pouch for anaerobic cultures. After four days of incubation, tissue cultures collected from the left hip (one of 5 total submitted) grew small, translucent, spreading colonies from the anaerobic blood agar incubated under anaerobic conditions. Gram stain of the colonies demonstrated spiral-shaped gram-negative rods (Fig. ). Matrix-assisted laser desorption time of flight (MALDI-TOF) mass spectrometry yielded and identification of Anaerobiospirillum succiniciproducens, which is currently unclaimed in the bioMerieux Vitek-MS database. Therefore, 16 s ribosomal RNA gene sequencing was performed, with the best matches using NCBI Blast Nucleotide Sequence Database to Anaerobiospirillum succiniciproduces and Anaerobiospirillum species with > 99% query coverage and identity. Ultimately, the laboratory report was released as “most closely resembles Anaerobiospirillum species; Identified by DNA sequencing.” 16S sequencing was not performed on any other samples including blood.
Mycophenolate was held temporarily in the setting of infection. Following identification of the organism, vancomycin was discontinued and ceftriaxone (2 g daily) was continued to complete 6 weeks total of antibiotic therapy. He tolerated treatment well to date, without evidence of recurrent infection.
Saliva and perirectal anaerobic cultures of two of the patient’s dogs (both Maltese) were performed using flocked swabs submitted in anaerobic agar gel transport media, and cultured on standard anaerobic media. No organisms resembling Anaerobiospirillum spp. were isolated.
Follow up 2 months later was unremarkable for relapse of infection, after completion of intravenous antibiotics,. |
pmc-6593590-1 | A 5-month old female Swiss Mountain dog presented to the local veterinary practice for clinical evaluation of gait abnormalities of the hind limbs. The orthopedic examination revealed lameness in the lower right hind limb and a bony thickening at the level of the metatarsophalangeal joint between the II and III digit phalanges, covered with normal skin. The complete blood count, serum chemical and electrolyte analyses were within normal limits, apart from elevated levels of calcium and phosphorus, which were attributed to the young age (5 month) of the animal (Table ). The dog underwent a radiographic examination. Two well-defined lesions within the right II and IV phalanges of the right pelvic limb were found (Fig. a), in the shape of well circumscribed, mineralized new bone formation with a trabecular pattern. The dog underwent surgery to remove the lesion on the II phalange, and the excised tissue was sent for a histopathological examination. This revealed well-differentiated bone tissue, hyaline cartilage, and fibrous tissue in addition to hematopoietic tissue and connective tissue. Based on the histopathological findings, multiple cartilaginous exostoses (ostechondromatosis) were diagnosed. In the 1 month follow-up examination, the dog showed progressive ataxia of hind limb, a stiff gait and hyperesthesia in the thoracolumbar vertebral column. Radiographs of the hips and vertebral column exposed similar lesions to those in the pelvic limb. They were located in the distal part of the femur, on the tail and on the thoracic spinous processes of the lumbar vertebral bodies (Fig. b, c) and on the ribs (Fig. b).
At the age of 8 months, the dog was presented to the Wrocław University of Environmental and Life Sciences at the Department of Internal Medicine with Clinic of Horses, Dogs and Cats for neurological assessment. The neurological examination revealed a wide-based stance and proprioceptive ataxia in the hind limbs, moderate proprioceptive deficits in the hind limbs, normal spinal reflexes and hypersensitivity of the thoracolumbar part of the vertebral column during palpation. The symptoms were localized to the Th3–L3 spinal cord segments.
Magnetic resonance imaging (MRI) was performed using a high-field 1.5 Tesla MR scanner (Ingenia; Philips Medical Systems, 2014). The sequences included sagittal plane T1- and T2-weighted (T1W, T2W) images as well as dorsal and transverse plane T2W images. MRI changes involved various heterogenous, hyper- and hypointense lesions in the T2W sequence and hypo- and isointense lesions in the T1W sequence located on the vertebral body, arches and numerous spinous processes in the cervical, thoracic and lumbar regions causing deformation and various degrees of spinal cord compression. Moderate spinal cord compression was found on the left side at the level of the C5–C6 and C6–C7 intervertebral space. There was severe compression on the dorsal right side at the level of the caudal part of the Th8 vertebra and the Th8–Th9 intervertebral space (Fig. a, b), moderate compression on the right side at the level of the Th11 vertebra and dorsally at the level of the L1–L2 intervertebral space, severe compression on the right side of the L2–L3 intervertebral space (Fig. c, d) and moderate dorsal compression at the L4–L5 intervertebral space. Hyperintense intramedullary signal in the T2W sequence and isointense spinal cord signal in T1W sequence were detected in the compressed areas. There were severe, similar looking changes visible on the inner surface of the ribs and milder lesions were present on both sides of the lateral surface of the scapula and on the medial surface of the ribs. The medical imaging diagnosis included multifocal compressive myelopathy of the cervical, thoracic and lumbar segments of the spinal cord as a consequence of MCE, causing moderate to severe compression of the spinal cord at the C6–C7, Th8–Th9, Th11, L1–L2, L2–L3 and L4–L5 levels. Symptomatic medical management with prednisone (0.5 mg/kg twice daily), gradually tapered after 4 days, omeprazole (1 mg/kg once daily), gabapentin (10 mg/kg three times daily) and physiotherapy with restriction of movement was recommended. Decompressive surgery was recommended for spinal cord and nerve root entrapment.
Three weeks after MRI examination, the dog underwent hemilaminectomy in the Department of Veterinary Clinical Sciences in the Small Animal Clinic of the Justus-Liebig-University Giessen in Germany. Due to the severity of lesions and neurolocalization in the thoracolumbar spinal cord, the surgical removal of the Th7–Th9 and L2–L3 lesions was performed via a dorsolateral approach (Fig. ) with partial extension to the dorsal part of the vertebral lamina of Th7–Th9 and L2–L3 on the right side. Using an electrical burr, the bony protuberances were separated from the normal bone and removed en-bloc. Analgesic doses of morphine were administered locally (0.1 mg/kg). The excision was sent for a histopathological examination. The post-operative computed tomography (CT) was performed using a 16-slice Philips medical scanner (2006). It confirmed complete removal of the bone exostoses in the vertebral column at the level of Th7–Th9 and L2–L3 (Fig. ). Intraoperative antibiotics (amoxicillin 25 mg/kg) were administered. The postoperative care involved intensive physiotherapy, administration of inflammatory (metamizole 50 mg/kg three times daily) and analgesic agents (fentanyl, ketamine, lidocaine). The dog was discharged after 2 days with gabapentin (10 mg/kg three times daily) maintained for 2 months and gradually tapered.
The first follow-up neurological and MRI examinations 7 months after the first MRI and 6 months post-surgery (when the dog was 15 months old) showed progressive, significant gait improvement with no signs of pain. The neurological investigation revealed a wide based—stance and mild proprioceptive ataxia in the hind limbs, normal proprioceptive positioning on all the limbs with normal spinal reflexes. Palpation of the vertebral column of the dog did not reveal any hyperesthesia or pain sings. The control MRI study revealed no further extension of the osteochondroma masses. A significant reduction in the spinal cord compression at the level of Th8–Th9 and L2–L3 intervertebral space was noted (Fig. ). An intramedullary T2W hyperintense and T1W isointense signal was observed at both sites, indicating thoracolumbar myelopathy most likely secondary to previous compression of the spinal cord and subsequent spinal cord gliosis or edema. The compressions at the C6–C7 and L4–L5 level remained unchanged compared to the first MR examination. Regular, moderate physical activity and maintenance of a normal body weight was recommended. Based on a neurological examination performed 15 months post-surgery (when the dog was 2 years old), the dog did not show any further neurological deterioration. |
pmc-6593702-1 | A 32-year-old healthy non-atopic female with no history of asthma showed generalized itchy erythema, dyspnoea and vertigo 15 minutes after cooling a second-degree burn on her left underarm in water with added chloramine-T (Halamid). She was diagnosed with anaphylaxis, and observed and treated with 0.5 mg of intramuscular adrenaline and 2 mg of intravenous clemastine at the hospital. Some hours later, she was discharged, with only diffuse mild erythema remaining. She had performed cleaning activities at a butchery for 17 years without using gloves. She had regularly developed localized wheals after skin contact with chloramine-T. We performed prick tests with an in-house preparation of 10 mg/mL of the patient's product. Readings were performed after 15 minutes. Physiological salt as a negative control caused no wheal or flare. Histamine, as a positive control, and chloramine-T caused erythematous wheals and flares with mean diameters of 6 and 12.5 mm, respectively (Figure ). Prick tests performed in three controls gave negative results. Laboratory tests showed a chloramine-T-specific IgE level of >100 kUA/L (values >0.34 kU/L were defined as positive) and a total IgE level of 870 kU/L (normal: 0-115 kU/L) (ImmunoCAP; ThermoFisher Scientific, Uppsala, Sweden). |
pmc-6593712-1 | A 34-year-old man had a single-chamber ICD implanted in 2013 for secondary prevention. In 2017, the shock lead displayed signs of electrical noise resulting in aborted shocks and needed to be replaced. On left arm phlebography, a total occlusion of the left subclavian vein in its mid-portion was noted, probably in relation to the presence of the lead. Venous return from the left arm followed a collateral supraclavicular system to join the more proximal left subclavian (Figure ). Because of the venous occlusion, endovascular adhesions were suspected along the lead and we decided to perform the intervention under TEE monitoring. The shock lead was difficult to visualize with 2D echocardiography because of its position in the posteroseptal commissure. Switching to 3D imaging allowed clear visualization of the lead course, from the terminal part of the superior vena cava (SVC), through the tricuspid valve, and up to the right ventricular (RV) apex (Figure , Movie ). No venous or valvular adhesions were noted. Because of a very narrow subclavian passage, but without any venous adhesions, the lead was extracted via the femoral approach using a snare tool (Needle's-Eye Snare, Cook Medical). A new shock lead was successfully implanted. |
pmc-6593712-2 | A 69-year-old man with sick sinus syndrome had a dual-chamber pacemaker implanted in 2010. Shortly after implantation, both leads became dysfunctional. During the first extraction, both leads were replaced but only the atrial lead could be removed. The old RV lead was abandoned. In 2017, the new leads also became dysfunctional. The chest X-ray and left arm phlebography showed signs of subclavian crush syndrome (Figure ). The presence of three relatively old leads was considered to complicate the extraction procedure, which was then performed under continuous TEE monitoring (Figure ). The locking stylet could not be inserted in the leads (probably due to the subclavian crush); thus, a femoral approach with a snare tool (Needle's-Eye Snare, Cook Medical) was chosen. The atrial lead was extracted with ease as well as the most recent implanted RV lead. During careful but progressive pulling of the abandoned RV lead, we saw near inversion of the RV cavity with TEE (Figure ). In this short period, the blood pressure dropped but quickly recovered after the lead detached and the RV re-expanded (Movie ). The patient was re-implanted with a new dual-chamber pacemaker (Figure ). No complication was noted, and the patient was quickly discharged. |
pmc-6593712-3 | A 51-year-old woman presented to the emergency department with palpitations. One week before, she had undergone a full-system dual-chamber pacemaker extraction. No pacemaker was re-implanted due to the absence of pacing in the previous 5 years. Her ECG at presentation showed sinus rhythm with frequent multifocal premature ventricular complexes and short runs of ventricular tachycardia. Her chest X-ray was normal and did not demonstrate a complication of the recent lead extraction. On transthoracic echocardiography, a very weak linear echo was visible (Movie ) in the right atrium (RA). A thoracic CT scan was performed, and a linear structure could be noticed coursing from the proximal SVC to the RV apex (Figure ). The most probable diagnosis was a retained fragment of the silicone insulation of the previous extracted RV lead. After discussing the case in a heart team, it was decided to try a TEE-guided percutaneous removal. Surgical removal remained as an escape option. The retained silicone sheath could not be visualized with high-intensity fluoroscopy; thus, the extraction was guided by TEE. By 3D and multiplane imaging, the silicone insulation sheath was visible from the terminal part of the superior vena cava (Movie ), coursing through the RA, the tricuspid valve, and ending in the RV apex, “trapped” into the complex trabeculae but without being firmly attached (Figure ). The upper end of the fragment was found floating freely in the last 4 centimeters of the superior vena cava, clearly visible on multiplane and 3D TEE (Figure , Movie ). A snare tool (Needle's-Eye Snare, Cook Medical) was guided into the RA using fluoroscopy. Thereafter, guiding was performed using multiplane/3D echocardiography alone, from a modified bicaval view. The snare tool was advanced into the SVC, and the retained silicone sheath was snared and removed (Figure , Movie ). Extraction was complete, confirmed by visual inspection of the insulation fragment and TEE. The patient had no recurrence of ventricular arrhythmia, despite discontinuation of antiarrhythmic drugs. She was quickly discharged to outpatient follow-up. |
pmc-6593871-1 | A 65-year-old female with a 13-year history of akinetic-rigid idiopathic PD presented with worsening parkinsonism, motor fluctuations, and “off” FoG. Early in the disease course, treatment with levodopa and selegiline resulted in excellent therapeutic benefit. Eight years after the diagnosis, unpredictable motor fluctuations, “off” dystonia, lower extremities peak-dose dyskinesia, and “off” FoG became increasingly difficult to manage with medical therapy. In preparation for DBS, after an overnight withdrawal of dopaminergic medications, a levodopa challenge test with 400 mg levodopa () showed a 72% improvement in her total Movement Disorder Society Unified Parkinson's Disease Rating Scale (MDS-UPDRS; 14) motor score from (55 points in the off-medication (off-med) state to 15 points in the on-medication (on-med) state). Importantly, the item 3.11 of MDS-UPDRS (FoG score) improved from 4 to 0.
After a multidisciplinary assessment, the patient underwent bilateral placement of STN-DBS leads (3389, Medtronic, Minneapolis, Minnesota USA; ). This provided an excellent clinical response with adequate thresholds for side effects, corticospinal side effects around 3–4V in all contacts. Dyskinesia of the left foot was noted with the programming of left contacts 0 and 1, and generalized dyskinesia with right contact 9. Three months after surgery, motor symptoms continued to be improved with stable stimulation parameters: amplitude 3.0 V, pulse width 60 μs, frequency 130 Hz in monopolar mode bilaterally with left STN (C+;2-) and right STN (C+;10-) (). The motor MDS-UPDRS score decreased to 37 points in the off-medication and on-stimulation (off-med/on-stim) condition (33% improvement). Subsequently, within 6 months after surgery, the patient reported a consistent appearance of “on” FoG, after taking medications and lasting several hours. It should be noted that preoperatively, the patient had only “off” FoG. Multiple programming sessions and attempts of double monopolar stimulation using different amplitudes () provided transient benefit in her FoG.
In order to determine whether FoG was caused by neurostimulation or dopaminergic medications, the levodopa challenge test with a same dosage as pre-operation was repeated in the on-stimulation (on-stim) and off-stimulation (off-stim) conditions. Patient's MDS-UPDRS FoG score was 2 in the off-med/on-stim state and 4 in the off-med/off-stim state. Once stimulation was turned off, the patient developed a recurrence of FoG which gradually improved after levodopa (FoG score improved from 4 to 1), along with other axial symptoms (). The FoG was reproducibly improved either by levodopa (on-med/off stim) or neurostimulation (off-med/on-stim). In the on-med/on-stim state, the patient developed persistent, severe FoG and gait difficulties for several hours after levodopa intake [FoG score increased from 2 to 4 with the axial score from 22 to 27] ().
We determined that the summative effect of electrical stimulation and dopaminergic stimulation induced “on” FoG, similar to previously reported FoG induced by supratherapeutic levodopa doses (). Initial management strategies included reduction of levodopa dose and the use of extended-release preparations with partial improvement in FoG. We then adjusted the stimulation and applied low-frequency settings as follows: Left STN (C+;2-), Right STN (C+;10-), amplitude 4.5 V, pulse width 90 μs, and frequency 60 Hz (). At 1-year post-operation follow-up, her FoG scores were significantly improved in both the medication on and off states (FoG score improved from 4 to 1).
In order to localize the specific anatomical electrode positioning and determined the volume of tissue activated (VTA), patient's pre-operative T1-weighted magnetization prepared rapid gradient echo (MP-RAGE) images were co-registered to her post-operative high-resolution CT scan prior to normalization to the Montreal Neurological Institute (MNI) template space using the Lead-DBS software package (). The STN was localized by means of the DBS Intrinsic Template Atlas (DISTAL) (). Lead-DBS was utilized to simulate VTAs for all presented DBS programming settings using a tissue-specific conductivity model (), which were used as seed volumes for deterministic tractography in DSI Studio (). A group-averaged diffusion dataset concatenated from 1,065 normative datasets in the Human Connectome Project database () was utilized for fiber tracking. A total of 5,000 tracts were generated from each VTA and fiber counts were measured to target regions in the Automated Anatomical Labeling (AAL) atlas () and the cerebellar spatially unbiased atlas template (SUIT) ().
The fiber tracking generated from the different VTAs of the three programming settings revealed overall greater connectivity between the left VTAs to the medial frontal gyrus, supplementary motor area (SMA), and multiple regions of the cerebellum when compared to the right VTA. Notably, there was a decrease in the connectivity of the left VTA and these regions during the improvement of “on” FoG (). According to these findings, we hypothesize that the changes in the neuro-connectivity affecting the prefrontal cortex (PFC) and cerebellum in the setting of the combination of neurostimulation and levodopa lead to the occurrence of “on” FoG. |
pmc-6593924-1 | A 31-year-old Hispanic male without any significant past medical history presented to the hospital with a 3-day history of altered mental status, flu-like symptoms, severe headache, and pancytopenia. Physical examination revealed mild neck stiffness, and the rest of the examination was unremarkable. Laboratory abnormality was significant for pancytopenia. The patient underwent lumbar puncture and was started on empiric antibiotics along with acyclovir. Cerebrospinal fluid (CSF) analysis showed elevated white blood cells (WBCs) with lymphocyte predominance and was negative for bacterial, viral, and fungal growth. The patient clinically improved and was discharged with a diagnosis of aseptic meningitis.
Two months later, he was readmitted to the hospital with similar symptoms. Results of repeated lumbar puncture with analysis of CSF showed elevated WBC with lymphocyte predominance as well as elevated protein. Further testing of CSF was negative for Cytomegalovirus, West Nile virus, herpes simplex virus, varicella zoster virus, as well as other bacterial and fungal pathogens. As part of further assessment, the patient underwent screening for HIV 1/2; hepatitis A, B, C; infectious mononucleosis; Ehrlichia; Cryptococcus; and parvovirus infection, which were all negative. Bone marrow biopsy was performed due to persistent pancytopenia.
The results were suspicious for B-cell lymphoproliferative disorder (), and the specimen was sent for a second opinion to Mayo Clinic. Morphological results revealed extensive atypical interstitial lymphocytic infiltrate, composed of small cells with round-to-slightly irregular nuclear contours. Immunohistochemical analysis of atypical lymphocytes was strongly positive for CD20 () without co-expression of CD5 or CD10. B-cell population had a lambda light chain restriction. Additional immunostains of atypical lymphocytes showed expression of BCL-2 protein and cyclin D1 (). Results of bone marrow biopsy were consistent with rare aberrant CD5 negative MCL.
Clinical picture and results of bone marrow investigations raised a concern of primary central nervous system (CNS) involvement. The patient underwent magnetic resonance imaging of the brain with unremarkable results. Immunohistochemical analysis of CSF by flow cytometry revealed prominent monoclonal B-cell lymphoid population with immunohistochemical characteristics similar to the B-cells found on bone marrow biopsy. Further assessment with computed tomography scans of neck, chest, abdomen, and pelvis failed to reveal lymphadenopathy.
The patient received a total of 8 cycles of R-HyperCVAD (rituximab along with cyclophosphamide, vincristine sulfate, doxorubicin hydrochloride, and dexamethasone) alternating with rituximab, high-dose methotrexate and cytarabine (R-MA), and CNS prophylaxis with methotrexate. He responded well to treatment with rapid resolution of leucopenia and thrombocytopenia. His restaging computed tomography scans of the chest, abdomen, and pelvis did not show any signs of lymphadenopathy. Follow-up bone marrow biopsy was negative for lymphoma involvement and repeated CSF analysis showed no evidence of disease. The patient continues to be in complete response and is under active surveillance. |
pmc-6593925-1 | Our patient is a 67-year-old gentleman with past medical history significant for hypertension, diabetes mellitus type 2, and chronic obstructive pulmonary disease, who presented to our emergency department with sudden onset of severe left flank pain. His pain started while he was watching TV at his home and was progressively getting worse, which prompted him to come to the emergency department for further evaluation. He denied any trauma or use of anticoagulation. He looked pale and in discomfort due to his pain.
His vital signs included temperature of 37.5°C, pulse 107 beats per minute, respiratory rate 18 breaths per minute, blood pressure 104/62 mm Hg, and oxygen saturation of 97% on room air. On examination, he had severe tenderness in his left flank. His laboratory data were significant for creatinine of 1.6 from baseline of 0.9, hemoglobin 9.7 from baseline of 13.8, and lactate of 4.5. Computed tomography (CT) scan of his abdomen and pelvis was obtained, which showed large acute retroperitoneal hematoma extending into the left suprarenal fossa and left hemi pelvis anteriorly displacing the left renal parenchyma ( and ).
His hemoglobin level decreased to 8.4 and he was transfused 2 units packed red blood cells. Interventional radiology was consulted who did an arteriogram that showed multiple bilateral renal artery aneurysms ( and ) and active extravasation present from L2 segmental artery trunk, findings consistent with polyarteritis nodosa (PAN), which was embolized that secured the bleeding, and the patient was started on prednisone 60 mg daily. Additional laboratory workup was obtained that showed elevated erythrocyte sedimentation rate >140, C-reactive protein 13.7, and low C4 with normal C3. ANA was positive with a titer of 1:80 with a nucleolar pattern. p-ANCA, c-ANCA, and hepatitis serologies were negative. His flank pain improved and hemoglobin remained stable. He was set up to see the outpatient rheumatology service and advised to continue prednisone and follow-up in 1 week. |
pmc-6594244-1 | Our patient is a 70-year-old Caucasian female with a past medical history significant for obstructive sleep apnea, osteopenia, restless leg syndrome, deep venous thrombosis, and cerebral vascular accident who is on long-term warfarin therapy. Her medication list included clonazepam 1 mg, metoprolol succinate 25 mg, paroxetine 10 mg, phenytoin 30 mg, rosuvastatin 20 mg, warfarin 7.5 mg, and warfarin 10 mg, none of which had been altered during the preceding month. She presented to our clinic for an international normalized ratio (INR) check after having a therapeutic INR of 2.7 one month prior. Her warfarin was dosed at 7.5 mg daily except 10 mg on Wednesdays.
During our visit with her, she was found to have an INR of 8.0, but she did not endorse bright red blood per rectum or melena, bleeding of her gums, hematuria, or epistaxis, and chest pain or shortness of breath. Since her last visit, one month prior, she began taking “Ginger Rescue,” a daily oral, chewable, 48 mg ginger supplement that had no other herbal or active ingredients. She did not report any other dietary changes in the previous month. Additionally, she did not endorse introducing any other supplements, outside of ginger, into her diet. Since a drug-drug interaction with rosuvastatin and warfarin is possible, we confirmed consistent compliance, as well as no dosing changes for both medications. We counseled our patient on holding 3 doses of her warfarin and stopping the ginger supplement. We advised our patient to return to our clinic 1 week later for an INR recheck. At this time, her INR returned to 2.6. She was subsequently advised to begin taking warfarin 7.5 mg daily. |
pmc-6594262-1 | Recently, a 67-year-old man with acute myeloid leukemia (AML) was referred to our Transplant Center for salvage treatment in overt relapse. He was diagnosed with a primary AML in December 2017. A three-month history of peripheral blood cytopenia before AML diagnosis was present, without a confirmed diagnosis of myelodysplastic syndrome. The cytogenetics was normal; Flt3-ITD and point mutation and NPM mutation were absent; the only molecular lesion as detected by RT-qPCR was a biallelic CEBP-alpha mutation. This lesion was absent in the germinal DNA. Thus, the disease risk was classified as favourable according to the recently published European Leukemia Net (ELN) criteria []. The patient received an induction with a conventional idarubicine, cytarabine, and etoposide combination and achieved a complete remission with incomplete platelet recovery (CRi). Subsequently, 3 cycles of high-dose cytarabine was administered. Considering the standard risk of the disease at diagnosis, the availability of a homozygous twin, and the expected low transplant-related mortality (TRM) of syngeneic allo-SCT, the latter was performed for intensification. The conditioning regimen was adapted to the patient's age (busulfan 6.4 mg/kg total dose and fludarabine 160 mg/sqm total dose). A complete hematological recovery was obtained after the first consolidation cycle and maintained since November 2018, when peripheral blood cytopenia occurred, with a bone marrow leukemic infiltration of 15%. Thus, the patient was referred for salvage treatment with haplo-SCT from his son. Unfortunately, the patient refused the procedure due to personal reason and is currently lost to follow-up. |
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.