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pmc-6601469-3 | Case 3. An 85-year-old female patient with a history of pseudoexfoliative glaucoma presented with a 4-month history of decreased vision OD (20/60). OCT showed MH (). 1 month later, spontaneous closure of the MH was observed () with BCVA of 20/50. After 3 years, patient complained of a central scotoma OD. BCVA was 20/70. OCT showed a MH with intraretinal cystic spaces (). MHS was recommended but the patient declined. 1 month later, the MH had again spontaneously closed with a few cystic spaces and minimal SRF which resolved gradually () although the BCVA was 20/125. |
pmc-6601479-1 | A 30-year-old male presented in December 2017 to the emergency department complaining of abdominal pain, which started around 3 am, and the pain was characterized as sharp, epigastric, nonradiating, and 9/10 in intensity. He admitted drinking alcohol, used to drink 5-6 glasses of wine/cocktails a day, but claimed he stopped a week ago, and he denied smoking or another illicit drug use.
Laboratory exams on admission were significant for lactic acid 3.7 (0.7-2.0 mmol/L), lipase >3000IU/L (11-82 IU/L), WBC 33,300 mmcu (4,000-11,000mmcu), and glucose 147mg/dl (70-99mg/dl). Patient underwent CT abdomen that showed acute pancreatitis. The next day patient glucose increased to 502mg/dl, bicarbonate was 18mg/dl (21-31mg/dl), and anion gap was 14. Patient then was transferred to Intensive Care Unit (ICU) for insulin infusion and management of diabetic ketoacidosis (DKA). His hemoglobin A1c was 5.5%.
Repeat CT abdomen with contrast () was concerning for necrotizing pancreatitis. After few days he was switched to subcutaneous insulin glargine/aspart and transferred back to general medical floor. Because patient developed fever and had persistent leukocytosis, and he was started on meropenem. His conditioned improved and antibiotics were changed to oral doxycycline and levofloxacin; he was discharged on insulin glargine 20U at bedtime and correctional insulin.
Patient continued to follow up as an outpatient. His blood sugars were ranging between 80 and 200 and A1c at the office visit was 4% in April 2017. Glargine was decreased to 15U nightly and sliding scale with meals was continued. In June 2017 glargine was reduced by a primary care provider to 7U due to symptomatic hypoglycemia. In July 2017 at an endocrinologist's office, A1c was 6.4%, and he allegedly reported daily fasting blood sugars ranging between 70 and 200. Glargine then was stopped and patient was advised to continue taking correctional aspart insulin to administer 3U if glucose>150 ().
In December 2017, while the patient was off glargine, A1c worsened to 8%. Patient was only using aspart as indicated and blood sugars were rarely >200s. Glargine was reinstated 5U nightly and Humalog started 4U with meals with an instruction not to take it if glucose was <110. However, in April 2018, HbA1c was 8.3% and he had episodes of symptomatic hypoglycemia. After further investigation, patient disclosed that, to avoid extra expenses, he used veterinary U-40 insulin syringes for the prescribed U100 insulin that he was getting from his wife, who herself worked in a veterinarian clinic. Unfortunately, he stopped checking his sugars regularly and on the next appointment in October 2018, HbA1c was 14%. Patient was taking glargine 8U at bedtime and Humalog 4 U if glucose was <150 and 7 U if glucose was 250-350 (). |
pmc-6601483-1 | A 53-year-old male presented to our institution's emergency room one week after returning from a trip abroad (Germany and India) with complaints of fever, fatigue, jaundice, shortness of breath, and back pain. He had a history of cholelithiasis and alcoholism. An ultrasound of the abdomen showed cholelithiasis/GB sludge without evidence of acute cholecystitis. Physical examination also elicited no tenderness on palpation of the abdomen. Laboratory work-up revealed elevated liver enzymes (alkaline phosphatase 497 U/L, aspartate transaminase 126 U/L, alanine transaminase 47 U/L) and elevated bilirubin (total 9.3 mg/dL and direct 5.8 mg/dL). There was no leukocytosis. The patient underwent magnetic resonance cholangiopancreatography (MRCP) examination which showed peripancreatic and pancreatic edema. This correlated with an elevated lipase to 591 U/L and he was diagnosed with acute interstitial edematous pancreatitis. It was also noted on MRCP that an accessory bile duct was present arising from the right hepatic ductal system and inserting into the infundibulum of the GB ().
Two days later the patient developed acute right upper quadrant (RUQ) pain and leukocytosis. He underwent hydroxy iminodiacetic acid (HIDA) scan which showed decreased hepatic uptake consistent with liver dysfunction, delayed biliary to bowel transit, and no filling of the gallbladder even on delayed images 24 hours after injection. These findings were concerning for obstruction of the cystic duct, thus acute cholecystitis. The patient was treated with antibiotics. He was not deemed a surgical candidate due to concomitant urosepsis, acute kidney injury, pancreatitis/hepatitis, and cholestatic jaundice with coagulopathy. A gastroenterologist was also following the patient; however ERCP was not performed due to lack of definitive evidence of cholangitis, biliary dilatation, or choledocholithiasis. A percutaneous cholecystostomy tube (PCT) was therefore placed by interventional radiology. During the PCT placement cholecystogram, the accessory bile duct was seen extending from the GB and connecting to the right posterior duct (RPD) (). After a lengthy hospital admission, his condition stabilized and he was discharged home with the PCT in place.
Two months later, shortly after his PCT was removed, he again developed RUQ pain. CT scan redemonstrated gallstones within the GB neck. Cholecystectomy was indicated given the patient's clinical status. The surgery began under laparoscopic technique, but was converted to open surgery as there was poor visualization of the gallbladder fundus, rigidity of the liver secondary to cirrhosis, and a significant amount of adhesions. Despite description of the cholecystohepatic duct in the radiology reports, the same difficult factors resulted in its misidentification as the CD, leading to transection. Upon further dissection, another duct was seen entering the gallbladder, eventually being identified as the true CD on intraoperative cholangiogram. Both ducts were tied off with sutures, and no further leakage of bile was seen in the operating room. A Jackson Pratt drain was also left in the gallbladder fossa at the time of surgery. Prior to its discontinuation, only serosanguinous output was visualized, without evidence of bile leak.
During a follow-up US of the abdomen for liver disease approximately 6 weeks after surgery, a fluid collection with layering debris was seen in the gallbladder fossa. Subsequent MRCP () depicts the cholecystohepatic duct terminating in the fluid collection within the gallbladder fossa. The transection of this cholecystohepatic duct, despite being tied off with sutures, resulted in a bile leak likely due to its significant size (2-3 mm diameter) and partial continued drainage of the posterior right hepatic lobe. Given that this was an incidental finding and the patient was asymptomatic, conservative management was chosen. Serial follow-up ultrasounds showed decreasing size of the fluid collection and eventual spontaneous resolution. |
pmc-6601489-1 | A 64-year-old Maltese male with NPD type B diagnosed on genetic studies 29 years prior after splenectomy for a splenic rupture was evaluated for lung transplantation. He had a significant medical history, diagnosed with both pulmonary and portal hypertension attributable to NPD type B. The patient had a 70-pack year smoking history (ceased in 2010) with no family history of NPD.
The patient was evaluated for lung transplantation due to functional impairment, characterised by a 24-hour oxygen requirement, a baseline oxygen saturation of 73% on 6 litres of oxygen, and a significant exercise limitation, with a six-minute walk test result being 50% of predicted and a post-test oxygen saturation of 65%. His pre-transplant PFTs demonstrated preserved lung volumes and a significantly reduced adjusted DLCO of 14%. Increased pulmonary vascular resistance was found on cardiac catheterisation, with a mean pulmonary pressure of 41 mmHg. Right ventricular dilatation was identified on pre-transplant echocardiogram with mild biatrial dilatation; however systolic function was normal. Liver function tests pre-transplant were normal aside from an elevated total bilirubin, 57 μmol/L, 11 μmol/L conjugated and 46 μmol/L unconjugated.
Further to this, pre-transplantation CT demonstrated a diffuse reticular interstitial pattern of typical chronic fibrotic lung disease, worse in the subpleural zones and at the bases, with subpleural blebs in the left lower zone, consistent with pulmonary NPD type B. A small triangular density was present in the left posterior side, deemed to be a focal consolidation (). Pre-transplant serology demonstrated previous Cytomegalovirus and Epstein-Barr virus infection in the recipient.
The patient received a bilateral lung transplant from a donor positive for hepatitis B virus infection which was treated with preoperative entecavir. The patient was on cardiopulmonary bypass intraoperatively for 223 minutes with an intraoperative airway reperfusion injury managed with 60 mg of intravenous furosemide and intraoperative hypotension requiring pharmacological vasopressor support both intraoperatively and postoperatively. The cold ischaemic time was 295 and 205 minutes for the right and left lung respectively.
The patient was commenced on cefotaxime pre-transplant as per institutional protocol and was subsequently changed to flucloxacillin due to donor swabs and day 1 bronchoalveolar lavage (BAL) growing methicillin sensitive Staphylococcus aureus (MSSA). On day 2 post-transplant, ceftazidime was initiated due to several episodes of pyrexia. This was escalated to cefazolin and meropenem on day 6 post-transplant due to an acute liver injury and ongoing hypotension. Vancomycin and gentamicin were also initiated under the presumption that the patient was septic; however blood cultures were negative during admission. Cefazolin was ceased after 24 hours and meropenem was continued until day 21 post-transplant. In addition to antibiotic coverage, anidulafungin was initiated on day 6 post-transplant for antifungal cover in the context of sepsis. This was used in replacement of voriconazole due to the acute liver injury identified in the intensive care unit (ICU).
Postoperative histological analysis of the explanted native lungs demonstrated features of lipoid pneumonia, in keeping with pulmonary NPD. Post-transplantation induction immunosuppression was initiated with basiliximab, followed by tacrolimus, mycophenolate, and prednisone.
The postoperative period was complicated by primary graft dysfunction type 3 and a vasoplegic state requiring vasopressor support in the immediate and ongoing postoperative period. The patient developed an anuric acute kidney injury (AKI) requiring haemodialysis; and paroxysmal atrial fibrillation (pAF) with haemodynamic instability requiring treatment with direct current (DC) cardioversion, an amiodarone infusion, and digoxin. Chest radiograph in the ICU demonstrated pneumomediastinum and bilateral pleural effusions. Vancomycin resistant enterococcus (VRE) was cultured from the pleural fluid and subsequently managed with intravenous linezolid. Other complications included recurrent rhinovirus infection, bilateral cephalic vein thrombi; an upper gastrointestinal haemorrhage managed with transfusion, endoscopic haemostasis, and angioembolization; and cerebral ischaemic changes highlighted by a frontal lobe infarction noted on CT brain.
On day 45 post-transplantation, the patient was diagnosed with clinical acute cellular rejection (ACR) and antibody mediated rejection (AMR) characterised by evidence of donor specific antibodies to HLA DQ7 and DGA1∗05:05 in the recipient serum. High resolution computed tomography (HRCT) chest demonstrated widespread peribronchovascular ground-glass opacities throughout both lungs (). This was managed with three doses of methylprednisolone and intravenous immunoglobulin. The patient was discharged after 80 days with repeat bronchoscopy revealing no evidence of anastomotic breakdown. Bronchial wash at the time grew Pseudomonas aeruginosa sensitive to ciprofloxacin and tazocin. The patient was no longer limited by breathlessness and the remaining sequalae of his AKI resolved in November 2018, with haemodialysis no longer required.
To date the patient has required two further hospitalisations, one for profound hypoxia and respiratory sepsis attributed to Pseudomonas aeruginosa. Imaging at the time demonstrated widespread ground glass changes. The most recent admission, for hypoxia, was attributed to pulmonary oedema and a concurrent lower respiratory tract infection. |
pmc-6601500-1 | A 56-year-old woman with a 27-year history of type 2 diabetes mellitus being poorly controlled the last 3 years and high blood pressure under angiotensin-converting enzyme inhibitor (ACEI) for 4 years was diagnosed with end-stage kidney disease presumably due to diabetic nephropathy. After three years of thrice-weekly hemodialysis treatment (with a single-pool Kt / V at 1.27 and dialysate Ca at 1.5 mmol/L), our patient presented with necrotic and painful extremities skin lesions (). The clinical examination found a patient in good general health with present and symmetrical peripheral pulses. Its biological assessment revealed phosphocalcic balance disorders with an elevated parathormone (PTH) and alkaline phosphatase (PAL) at 919 pg /ml and 348 UI /l, respectively, a calcium level at 2.2 mmol / l under calcium carbonate, a normal serum phosphorus at 1.03 mmol / l, a vitamin D deficiency at 14.2 ng / ml, and normocytic normochromic anemia. Dosage of prothrombotic factors (C and S proteins, antiphospholipid antibodies, anticardiolipin antibody, anti-b2 glycoprotein 1 antibody, circulating anticoagulant, and cryoglobulinemia) was normal. Cervical ultrasound has found bilateral parathyroid nodules. X-rays of the skeleton showed bone demineralization with extensive calcification of the vessels. The patient initially received symptomatic treatment with an opioid analgesic (Tramadol sometimes associated with Nefopam), blood transfusion, and erythropoietin to correct anemia.
She underwent a wide debridement of the necrotic cutaneous lesions whose anatomopathological examination returned in favor of a calciphylaxis. Once the diagnosis was established, the patient first benefited from a parathyroidectomy in order to correct the phosphocalcic balance. One week after parathyroidectomy, the patient had asymptomatic hypocalcemia at 1.74 mmol/l, following which she was dialyzed with a dialysate rich in calcium 1.75 mmol/l and given calcium supplementation based on calcium carbonate. 3 weeks later, its balance sheet improved significantly with a PTH at 432 pg/ml, a serum calcium level at 2.29 mmol/l, and a hypophosphatemia at 0.64 mmol / l. In addition, the patient received several hyperbaric oxygen therapy sessions that started from the second week of her admission and had been maintained until the fourth month with a total of 36 sessions. Sodium thiosulfate perfusions (25g three times a week at the end of each hemodialysis session) were also administered to our patient that started from the fourth week to the sixteenth week with a total of 36 bottles. No adverse effects have been reported. Local care was performed daily until complete healing of the lesions (). |
pmc-6601500-2 | A 69-year-old woman with a long history of arterial hypertension under ACEI, complicated by end-stage kidney disease was placed on automated peritoneal dialysis (APD) for 21 months with a KT/V urea at 1,69. The patient was also under calcium carbonate for secondary hyperparathyroidism diagnosed during her follow-up (a PTH at 780 pg/ml). The patient was consulted for erythematous, necrotic, and painful skin lesions of her right leg (.1). The clinical examination found inflammatory signs with redness and pain around these lesions. Peripheral pulses were present and symmetrical. Her body mass index was at 28,3 kg/m2. The lesions worsened and spread to the contralateral leg within 5 days (.2). CT angiography did not indicate stenosis of the vascular axes but showed diffuse calcifications that extended to the lower limbs. Calciphylaxis was mentioned in view of the different risk factors present in our patient, as well as the quite telling clinical presentation occurring in a known context of secondary hyperparathyroidism. The initial treatment consisted of the correction of anemia with erythropoietin to optimize the tissue perfusion as well as analgesics to manage the pain. Parathyroidectomy was performed as soon to control the disturbances of the phosphocalcic balance and the PTH levels decreased to 417 pg/ml the 2nd day after parathyroidectomy. A concomitant biopsy of skin lesions confirmed the already mentioned diagnosis of calciphylaxis (). Necrosectomy with local care and optimization of dialysis parameters were also implemented. A treatment based on sodium thiosulfate and hyperbaric oxygen was proposed to our patient but was not performed due to a lack of her financial resources. Fortunately, the complete healing of the lesions was obtained by 4 months (). |
pmc-6601505-1 | A 26-year-old Para 0+0 woman presented to our facility in December 2008, complaining of prolonged, heavy bleeding of two weeks' duration during her last menstrual period. This was the first such episode. In addition, she also had episodes of postcoital bleeding. She had not missed her menses and a pregnancy test was negative. General examination was clinically normal with no significant findings. A speculum examination revealed a polypoid lesion in the upper vagina measuring 4cm across. The cervix was not distinctly seen (). The initial impression was a cervical tumor to rule out malignancy. An abdominal ultrasound showed a normal uterus with no masses within the uterus.
Histopathological examination of an incision biopsy done on January 7th 2009 suggested a blue nevus with a differential of schwannoma. The patient was subsequently counselled for an examination under anaesthesia and excision of the tumor. The initial excision was incomplete with subsequent colposcopic examination showing a residual 2.5cm tumor in the posterior vaginal wall. The adjacent cervix was now visible and was normal (, arrow). Final excision of the residual tumor with free margins confirmed by histopathological examination was performed on August 28, 2009, two months after the incomplete excision of the tumor. This showed a mass entirely located in the vagina measuring 6cm in its widest diameter. Our patient had an uneventful postsurgical period and was discharged home on postoperative day three. |
pmc-6601707-1 | A 57-year-old white woman presented in early 2016 with sepsis, jaundice, and left upper quadrant pain. An ampullary mass was found and biopsy revealed poorly differentiated adenocarcinoma. At exploratory laparotomy peritoneal metastases were found. Excisional biopsy of a 3-cm omental mass confirmed poorly differentiated adenocarcinoma. Tumor cells were strongly and diffusely positive for CK7, CK19, MUC1 and negative for CK20, CDX-2, MUC2 (Figures , , ). The patient received FOLFOX for 10 months during which she developed worsening left shoulder and bilateral hips pain. A CT scan showed significant progression of disease in her left shoulder, bilateral hips, and peritoneal metastases, and her CEA level increased to 29 ng/mL. She received 1 dose of FOLFIRI but cancer pain worsened and while CEA levels increased to 37 ng/mL (Figure ).
Positive IHC staining for CK7 and MUC1 was consistent with pancreatobiliary-type ampullary adenocarcinoma. Chemotherapy was decided to switch to gemcitabine 400 mg/m2 and nab-paclitaxel 125 mg/m2 weekly. The patient's cancer-related bony pain rapidly reduced from 10/10 to 1/10 on a pain scale. Because the patient's CEA remained stable during gemcitabine nab-paclitaxel treatment, cisplatin 25 mg/m2 was added to be given weekly, 3 weeks on and 1 week off, for 6 months (Figure ). The patient reported that the new regimens gave her more energy over time and she gained appetite and weight. Restaging CT scans demonstrated significant tumor reduction compared to prior scans with a fall in tumor marker CEA (Figures , , , ). The gemcitabine and nab-paclitaxel regimen has been continued, with an ongoing tumor response for >1 year (3/2017-5/2018). Cisplatin was placed on hold due to increased creatinine. |
pmc-6601707-2 | A 60-year-old white man presented with jaundice (total bilirubin of 12 mg/dL) in late 2015. A 2-cm ampullary mass involved the distal common bile duct was found and biopsy showed a poorly differentiated adenocarcinoma involving the small-intestine mucosa. Initial CT scans showed biliary duct dilatation, multiple 1 cm reginal lymph node enlargement and a large 4-cm mediastinal lymph node. Biopsy of the large mediastinal showed poorly differentiated adenocarcinoma that stained positive for CK7 but negative for CDX2, TTF-1, NapsinA, and CK 20, consistent with an ampullary origin. The patient received FOLFOX for 5 months at an outside institute during which the patient noticed progressive voice hoarseness and was discovered to have left vocal cord paralysis. In May 2016, restaging CT scans shows the mediastinal mass had increased to 5 cm (Figure ). Due to disease progression, chemotherapy was switched to FOLFIRINOX for 2 months. Concurrent conventionally fractionated radiotherapy with 60 Gy in 30 fractions was also aimed to the patient's bulky mediastinal node. In September 2016, after concurrent chemoradiation, chest CT showed the mediastinal node had slightly decreased in size but several metastatic nodular pulmonary lesions had appeared with an increase in CEA tumor marker to 35 ng/dL, confirming continued tumor progression (Figure ).
Because the patient's tumor IHC profile (CK7 positivity) was consistent with pancreatobiliary-type ampullary adenocarcinoma, therapy was switched to gemcitabine 400 mg/m2 and nab-paclitaxel 125 mg/m2, given once every 10 days. On this regimen, the CEA levels rapidly decreased with disappearance of metastatic lung lesions and improvement in hoarseness. Because the patient's CEA decline reached a plateau after 10 months of gemcitabine and nab-paclitaxel regimen, in July 2017, cisplatin 25 mg/m2 was added to the regimen, given 2 weeks on and 1 week off, for 3 months. Subsequent restaging with CT and EUS showed a marked decrease in mediastinal lymph node size to 1.4 cm and further CEA decrease to 4.8 ng/dL (Figures and ). EUS RFA in December 2017 was used to ablate the 1.4-cm mediastinal node. As of this report, the patient is on maintenance chemotherapy with gemcitabine 300 mg/m2 and nab-paclitaxel 125 mg/m2 weekly, 2 weeks on and 1 week off, and has maintained a stable, ongoing response for close to 3 years (9/2016-present). Cisplatin is on hold due to increased creatinine and eGFR of 40 mL/min/1.73 m2. |
pmc-6601707-3 | A 52-year-old woman presented in April 2014 with jaundice, pruritus, nausea, and vomiting. A duodenal mass was found obstructing her biliary tree. She received a Whipple procedure. Surgical pathology showed a 6.5-cm adenocarcinoma, moderately differentiated with partial mucinous differentiation, arising in small intestinal tubulovillous adenoma with high-grade dysplasia, invasive into peri-intestinal soft tissue, with contiguous extension into pancreas, and 7 of 25 lymph nodes were involved with metastatic carcinoma. The patient's disease was pathological stage T4N2M0. IHC staining was positive for CK7, CK20, CDX-2, and MUC-1 (negative staining for MUC-2), employing a cutoff threshold for positivity of 25%. Subsequently, the patient received 6 cycles of FOLFOX adjuvant chemotherapy.
Two years after her initial Whipple surgery, surveillance CT revealed development of extensive peritoneal metastatic disease in the abdomen and new hepatic hypo-densities consistent with tumor recurrence. After 10 months of palliative FOLFIRI chemotherapy starting in June 2016, her cancer progressed on both CT scans and tumor marker CA19-9. Because her tumor's immunophenotypic profile was positive not only for MUC1 and CK7 but also for CK20 and CDX-2, her tumor was considered ambiguous with both pancreaticobiliary-type and intestinal-type features. Nab-paclitaxel 125 mg/m2 plus gemcitabine 300-400 mg/m2 was chosen as third-line salvage chemotherapy with each given over 30 minutes weekly, 3 weeks on and 1 week off. Tumor response was demonstrated by CT scans and tumor marker CA19-9 markedly declined from 452unit/ml to 42unit/ml and has remained stable for 1 year (5/2017-3/2018) (Figure ). |
pmc-6603113-1 | A 71-year-old man was admitted to our hospital with complaints of persistent anorexia. Fifteen years ago, he had undergone distal gastrectomy with D2 lymphadenectomy, followed by Billroth-II type reconstruction for gastric cancer. Pathological examination of the gastric tumor revealed an AFP-GC, and the pathological stage was pT3 (SS) N2 M0, stage IIB (Japanese classification of gastric carcinoma: 3rd English edition) []. The serum AFP level was 3720 ng/mL (normal range < 10 ng/mL) preoperatively and decreased to 8.0 ng/mL after gastrectomy performed 15 years ago. With the exceptions of the hemoglobin (7.8 g/dL) and serum AFP (17,447 ng/mL) levels, all serum levels tested were within the normal range. Hepatitis B and C were negative, and he did not have any elevated aminotransferases. The levels of carcinoembryonic antigen (normal range < 5.3 ng/mL) and carbohydrate antigen 19-9 (normal range < 37 U/mL) were 4.1 ng/mL and 13.5 U/mL, respectively. Upper gastrointestinal series revealed a contrast medium in the ulcerative lesion from the afferent jejunum (Fig. a). Endoscopic examination demonstrated the presence of an ulcerative lesion located at 15 cm from the site of anastomosis of gastrojejunostomy at the afferent jejunum. Pathological examination of biopsy specimens revealed adenocarcinoma consistent with primary gastric cancer resected 15 years ago. An abdominal contrast-enhanced computed tomography (CE-CT) revealed the presence of a 70-mm-sized mass at the mesentery of the jejunum (Fig. b). Fluorodeoxyglucose positron emission tomography (FDG-PET) demonstrated the presence of an abnormal accumulation of FDG at the mass without any distant metastasis. Based on these findings, we suspected a metastatic tumor from gastric cancer at the mesentery of the jejunum and performed a laparotomy. Macroscopically, a 75 × 70-mm-sized mass, infiltrating all the layers of jejunum wall, was found at the mesentery of the jejunum (Fig. c), and partial resection of the jejunum was then performed. Pathological examination revealed tumor cells with an acidophilic cells with an alveolar growth pattern (Fig. ). Such observations were comparable with the primary gastric cancer’s pathological features. Immunohistochemical examination indicated that the tumor cells were positive for AFP and cytokeratin 18 and negative for cytokeratin 7 and 20. Consequently, we diagnosed the tumor to have metastasized from the AFP-GC resected 15 years previously. The preoperative serum AFP levels, which were postoperatively examined, were 17,447 ng/mL (normal range < 10 ng/mL). The patient was uneventfully discharged on the 15th postoperative day.
Two months after the second surgery, CE-CT scan revealed multiple liver metastases (Fig. ) and serum AFP level increased to 94,838 ng/mL (Fig. ). Therefore, chemotherapy with S-1+CDDP was initiated. However, after two courses of therapy, the patient refused any further treatment owing to severe adverse effects (i.e., appetite loss and general fatigue). A CE-CT scan performed after two courses of chemotherapy revealed that all liver metastatic lesions disappeared. Additionally, serum AFP levels declined to normal range (1.0 ng/mL). Seven years after the second surgery, and without any chemotherapy, the patient is alive and well, without any recurrence. |
pmc-6603988-1 | A 34-year-old male without significant medical history presented with a 4-month history of shortness of breath and a non-productive cough that worsened in the supine position. He eventually presented to a local district hospital with unexplained syncope.
No clear cause for his symptoms was identified, and a computed tomography (CT) pulmonary angiogram (CTPA) was performed to rule out pulmonary embolism. No emboli were present, but the scan demonstrated a large intra-tracheal tumour with near-complete obstruction of the distal trachea (Fig. A).
The syncope was ascribed to likely transient asphyxiation due to intra-tracheal obstruction, and the patient was referred to our unit. We proceeded to perform an urgent flexible bronchoscopy in the sitting position and confirmed a lobulated, smooth, solid, well-vascularized mass that almost completely obstructed the distal trachea (Fig. B). Conventional fine-needle aspiration did not yield diagnostic material (rapid on-site evaluation), and forceps biopsies were subsequently cautiously obtained. Minimal bleeding occurred, and the histology of the biopsies showed a myoepithelial rich tumour with features favouring pleomorphic adenoma.
The patient was referred for resection of the tracheal tumour, and resection of the distal trachea at the carina and left main bronchus was performed (Fig. C). The patient had an uneventful postoperative course and was essentially asymptomatic at discharge. Histology of the resected specimen was in keeping with an ACC (Fig. D) that infiltrated through the cartilage into the peritracheal soft tissue. Two peritracheal and two subcarinal lymph nodes were negative for metastatic carcinoma.
Tumour excision margins were unfortunately not clear of tumour infiltration on histology, and a surveillance bronchoscopy confirmed macroscopic recurrence of the primary tumour (Fig. ). Although the differential diagnosis of these lesions included postoperative granulation tissue, the macroscopic appearance certainly favoured tumour recurrence (Fig. ).
Our patient is currently undergoing adjuvant external beam radiotherapy, which may be followed by brachytherapy, if required, in a sufficient dose initially or for a later recurrence. |
pmc-6604175-1 | A 40-year-old South Asian woman presented with blurring of vision, cloudiness, and a dark spot on her right eye for 1 week. She stated that she had been using a topical oral gel medication, fluocinonide 0.05% oral gel, twice a day for the past month as prescribed by her dentist for mucosal inflammation following oral surgery. She denied specific stressors in her life, current pregnancy, or other exogenous steroid medication use. She did not present with a history of hypertension; other past medical, surgical, family, and social histories were reviewed and were noncontributory. Her best corrected visual acuity measured 20/25–2 in her right eye and 20/20–2 in her left eye. The intraocular pressures were normal and anterior segment examinations in each eye were unremarkable. Posterior segment examination of her right eye (Fig. a) showed a large serous retinal detachment in the superotemporal macula with multiple associated pigment epithelial detachments located inferonasal to the fovea and another in the inferotemporal macula. The posterior segment of her left eye (Fig. b) revealed multiple pigment epithelial detachments within the macula. There was no evidence of intraocular inflammation in either eye.
Fluorescein angiography (Fig. c, d) revealed pooling of dye within each of the pigment epithelial detachments within the macula of both eyes. In the late phase of the angiogram, dye was found leaking into the subretinal space in her right eye. No edema or leakage from the discs was observed in either eye. Optical coherence tomography (Figs. and ) showed a large serous retinal detachment and multiple pigment epithelial detachments in her right eye and a pigment epithelial detachment without subretinal fluid in her left eye. The clinical diagnosis of idiopathic CSR was made and was attributed to our patient’s use of the oral fluocinonide gel. She was instructed to discontinue using the oral corticosteroid at the discretion of her dentist.
Two months following cessation of the oral topical corticosteroid gel, she reported an increase in vision in her right eye. Her best corrected visual acuity measured 20/25 in her right eye and 20/20- in her left eye. Posterior segment showed complete resolution of the subretinal fluid with residual pigment epithelial detachments in her right eye and stable pigment epithelial detachments in her left eye.
At her 6-month return visit, best corrected visual acuity measured at 20/20 in both eyes. An ocular examination showed stable pigment epithelial detachments and no evidence of recurrence of serous retinal detachments. |
pmc-6604203-1 | A 47-year-old previously well male electrician from rural Australia presented with five days of worsening dyspnoea, productive cough and scant haemoptysis unresponsive to oral antibiotics and corticosteroids. He had a history of depression (desvenlafaxine) and active tobacco smoking (25 pack years). Initial chest x-ray was normal. He rapidly progressed to severe type I respiratory failure over the ensuing day requiring intubation and mechanical ventilation. Marked inspiratory and expiratory airflow limitation precluded adequate gas exchange and therefore veno-venous extra-corporeal membrane oxygenation (ECMO) was emergently instituted. Complete bilateral lung collapse developed over the next day (Figs. and ).
The lack of airspace opacity on initial chest x-ray excluded acute respiratory distress syndrome and suggested the severe airflow limitation may be due to airway obstruction. Bronchoscopy confirmed severe diffuse airway inflammation characterised by purulent exudate, ulcers and nodules throughout the airways (Fig. ). Endobronchial biopsies revealed an acute necro-inflammatory process. Extensive microbiologic investigations were negative except for Rhinovirus identified by polymerase chain reaction. Vasculitis screen including antineutrophil cytoplasmic antibody (ANCA) was negative. The presumptive diagnosis was an inhalational injury.
Management consisted of broad-spectrum antimicrobial therapy (including meropenem, vancomycin, doxycycline and voriconazole), repeat bronchoscopic toilet and supportive care. The airway inflammation improved and transition to mechanical ventilation occurred after 13 days when only mild expiratory airflow obstruction was observed. A tracheostomy tube was sited two days after cessation of ECMO and ventilatory support was gradually weaned, ceasing seven days later. The patient was transferred to the ward on day 24 of admission. The only complication was critical-illness myopathy. He was discharged three days later for outpatient follow-up. He could mobilise 50 m and had no symptoms at rest.
The patient re-presented six days post-discharge with progressive dyspnoea, wheeze and a mild cough productive of yellow sputum. Examination revealed increased work of breathing and a diffuse wheeze throughout the respiratory cycle. Fibre-optic nasoendoscopy to mid-trachea did not reveal paradoxical vocal cord motion or obstruction. Computed tomography (CT) imaging demonstrated widespread bronchial wall thickening from large to medium airways and mild ground-glass opacity in the peripheral upper lobes bilaterally (Fig. ). Bronchoscopy showed persistent diffuse patchy mucus coating the airways, worst in the left upper lobe where some mild narrowing was observed, however overall appearances were vastly improved compared with those during the initial admission; washings detected scant inflammatory cells, predominantly neutrophils, and no microbes.
The patient was treated empirically with high-dose prednisolone, inhaled bronchodilators and antibiotics. He had significant anxiety and was managed with sertraline and olanzapine plus pro re nata clonazepam. His dyspnoea worsened and over the ensuing 17 days he developed increasing headache and drowsiness. He was found to be in severe but partially compensated type II respiratory failure with a normal alveolar arterial oxygen (Aa) gradient (arterial blood gas on FiO2 0.27 revealed pH 7.33, PaO2 99 mmHg, PaCO2 74 mmHg, bicarbonate 34 mmol/l).
Repeat CT imaging showed persistent but improved bronchial wall thickening but now significant homogeneous gas trapping (Fig. ); this was thought to reflect bronchiolitis secondary to the presumed initial inhalational injury. Other differential diagnoses considered were a central deficit (neurological examination and magnetic resonance imaging of brain were normal), medications (cessation of benzodiazepines led to no benefit) and neuromuscular weakness (respiratory effort appeared significant with costal indrawing / paradoxical abdominal movements, anti-acetylcholine receptor antibodies were absent and electromyography plus nerve conduction studies were normal).
The patient deteriorated despite a trial of non-invasive ventilation, becoming obtunded (PaCO2 175 mmHg) and requiring intubation and mechanical ventilation. There was difficulty with mechanical ventilation with peak inspiratory pressures of 69 cmH2O required to achieve tidal volumes of 3 ml/kg. Expiratory airflow limitation plus plateau airway pressures < 20 cmH2O indicated a predominantly obstructive ventilatory defect and intermittent circuit disconnection was required to relieve gas trapping.
Bronchoscopy during mechanical ventilation revealed multiple concentric fibrous web-like stenoses in lobar and segmental bronchi throughout both lungs. Some webs had totally effaced bronchi. Many stenoses were successfully dilated by balloon and, where membranes had effaced airways, these were punctured by Wang needle then dilated (Fig. ). Stent placement was not feasible given the great multiplicity of stenoses and their involvement of non-central airways. Immediately post-procedure a dramatic improvement in ventilatory performance occurred. Peak inspiratory pressures dropped to 18 cmH2O and the patient was extubated the next day with negligible supplementary oxygen requirement. Endobronchial biopsies revealed non-specific mucosal ulceration and chronic inflammation with stromal fibrosis. Pulsed high-dose methylprednisolone was trialled for what was considered an intense proliferative / fibrotic inflammatory process arising from disordered mucosal healing secondary to a presumed inhalational injury.
The patient improved and was discharged with a plan for outpatient rehabilitation followed by repeat bronchoscopy in three weeks. Spirometry at discharge demonstrated moderate to severe obstructive pathophysiology and reduced diffusing capacity (FEV1 1.79 l [49% predicted], FVC 3.26 l [70% predicted], diffusing capacity of carbon monoxide corrected for haemoglobin 19.2 ml/min/mmHg [66% predicted]). Claustrophobia prevented plethysmography.
The patient re-presented after 6 days with increasing dyspnoea, wheeze and mild type I respiratory failure. Bronchoscopy revealed aggressive recurrence of the webbing with occlusion of various segmental bronchi, some of which were re-canalised with puncture and dilatation. Mucosa in some areas sheared away from the underlying bronchial cartilage, precluding further intervention. The trachea appeared largely spared and the proximal main bronchi only minimally affected. An extensive history was conducted including from collateral sources regarding possible inhaled exposures in his home due to the repeated deterioration early after discharge. No causative agent could be identified except for malathion which the patient had used to spray ants a few days prior to his first presentation and not since. As the exposure was only identified at this later stage, cholinesterase levels could not be performed on blood samples from the original admission.
Due to the severe and rapidly recurring webbing plus the increasing danger of endobronchial intervention, the patient was rapidly worked-up for lung transplantation. There were concerns regarding transplanting for a respiratory disease of unknown origin, that the underlying disease may be systemic, that it may affect the anastomoses and native large airways or that it may recur in the graft. Furthermore the patient was deconditioned and could not complete standard lung transplantation work-up. Surgical options included a standard bilateral sequential lung transplant versus a domino heart-lung transplant with a tracheal anastomosis. The patient underwent the former one month later at the quaternary referral centre with pathology of the explant revealing very severe necrotising bronchitis extending deep into the wall with associated granulation and fibrosis, most severe in the central bronchi, with some areas of histiocytic inflammation particularly in the distal trachea; however no specific diagnosis could be reached. Twelve months post-transplant, the patient is progressing well with normal graft function and no evidence of disease recurrence or systemic illness. |
pmc-6604273-1 | The index case was a 57-year old man with ESRD due to diabetic kidney disease, on hemodialysis for 14 years. Other medical problems included hypertension for > 30 years, peripheral neuropathy and multiple arteriovenous dialysis access revisions. Medications were valsartan, amlodipine, doxazosin, metoprolol, cinacalcet, lanthanum carbonate, pantoprazole, zolpidem, and vitamin D2. Blood pressure was managed with three to four medications for many years. There was a remote history of sleep apnea that resolved after 45 kg weight loss, and no history of smoking or COPD.
Physical examination (after erythrocytosis developed) revealed blood pressure 126/74, pulse 84, dry weight 93 kg, body mass index 30.4 kg/m2. Head and neck examination, cardiac, respiratory and abdominal exam were normal. Extremities showed 2+ symmetric pulses, no peripheral edema, and non-functioning dialysis grafts in his right and left upper arms and left thigh, with a right femoral tunneled dialysis catheter in place. Neurologic exam revealed diminished sensation to pinprick and altered proprioception in both feet.
The patient experienced recurrent episodes of asymptomatic intradialytic hypotension (Fig. a), which persisted despite gradually increasing his dry weight to 97 kg and discontinuing anti-hypertensive medications between months 3–7. In month 8, midodrine 5 mg by mouth for blood pressure support was started prior to each dialysis session, increasing to a second 5 mg dose after two hours of dialysis in month 9. This resolved the intradialytic hypotension. Midodrine was discontinued in month 14, causing relapsing hypotension; midodrine reinstitution in month 17 resolved the hypotension again (Fig. a).
Investigation for the cause of hypotension included an echocardiogram, which demonstrated concentric left ventricular hypertrophy, 55% left ventricular ejection fraction, normal right ventricular function, and absence of pulmonary hypertension, pericardial effusion or valve defects. Adrenal and thyroid function tests were normal. An endocrinology consultant concluded that the hypotension was due to diabetic autonomic neuropathy.
Prior to the intradialytic hypotension episodes, the hemoglobin concentration ranged between 10.3–12.0 g/dL. The patient never required ESA therapy. The patient’s hemoglobin concentration increased over six months, peaking at 18.5 g/dL. The temporal relationship between monthly mean nadir blood pressure on dialysis and hemoglobin concentration is shown in Figs. a and a.
Between months 6–10, the patient experienced thrombosis of the right brachiocephalic and left femoral grafts. In month 8, he was diagnosed with a deep venous thrombosis involving the left posterior tibial and proximal superficial femoral veins, which was treated with warfarin.
Laboratory investigation demonstrated normal platelet counts, peripheral blood smear, and partial thromboplastin times, EPO level of 100.0 mIU/mL (normal range 3.7–28.4), negative factor V Leiden and negative JAK2 (V167F) gene mutations. Computed tomography of the patient’s chest, abdomen and pelvis revealed no renal or liver masses, but did show multiple, bilateral kidney cysts (Fig. b).
Queries to nephrologists in two large groups revealed four additional subjects with ESRD and unexplained (non-smokers without COPD, obstructive sleep apnea, malignancy, ESA or iron therapies) sustained hemoglobin concentration > 13 g/dL for > 6 months (Table ). All patients had prolonged episodes of intradialytic hypotension over several months, which preceded the erythrocytosis. Three of the five subjects had documented acquired renal cysts, and multiple vascular access thromboses (Table ).
The relationships between nadir intradialytic systolic BP and mean monthly hemoglobin concentration for all five patients are plotted in Fig. . In each case, linear regression revealed a statistically significant (P < 0.05) inverse correlation between blood pressure and hemoglobin concentration. To further evaluate the association between hypotension and hemoglobin concentration, a comparative analysis was conducted using average monthly nadir systolic BP as a continuous, independent variable and hemoglobin concentration as the predefined binary outcome (months when mean hemoglobin concentration < 13 g/dL or ≥ 13 g/dL). We employed a multilevel generalized growth model with a logit link approach (MPlus software, 2012) which accounts for within-subject variability in BP and hemoglobin concentrations. Lower BP was associated with a significantly increased odds ratio for a change from low to high hemoglobin concentration (OR = 1.163, 95% CI = 1.090, 1.241). |
pmc-6604277-1 | A 81-year-old woman was admitted to the emergency room on January 19th, 2018 for fever and vomiting. Her medical history consisted only in mild cognitive disorders and she received no treatment. Her temperature was 39.2 °C, the oxygen saturation while breathing room air was 88%, and clinical examination was remarkable for rhonchi, extracellular dehydration, fecal impaction, and poor oral condition. Total white blood cell count was 12.7 G/L (PMN 11.2 G/L), serum creatinine, sodium and calcium were 179 μmol/L, 149 mmol/L, and 2.04 mmol/L, respectively. Serum C-reactive protein was 613 mg/L. Liver and pancreatic parameters were normal. Serum CPK and LDH levels were 490 IU/L and 1239 IU/L, respectively. Total body CT-scan showed bilateral basal pulmonary condensations associated with interstitial infiltrates in the upper lobes, as well as an excavated condensation in the right upper lobe and non-complicated colonic diverticulosis. Amoxicillin-clavulanate was started on an empirical basis and the patient was admitted to the pneumology department. Sputum smears were repeatedly negative for acid-fast bacilli. Several blood cultures drawn within the first 3 days remained negative. Urinalysis was negative as were antigenuria for Legionella pneumophila and Streptococcus pneumoniae. Serologies were negative for HIV, HCV, and HTLV-1/2 and positive for anti-HBs antibodies. Because of persisting fever after 10 days of antibiotic treatment, a bronchoscopy was performed, which found diffuse bronchomalacia and no visible tumor. Lavage fluid culture was positive for Staphylococcus aureus (104 CFU/mL) and Candida spp. (103 CFU/mL). The latter contained two populations that were first identified as C. albicans and a C. parapsilosis. The infection was not catheter related, and no other primary focus was identified. Oral fluconazole was started on February 1st. On February 6, while the patient remained febrile, an aerobic blood culture was positive for a yeast after 28 h of growth. Intravenous caspofungin was started. The yeast was identified as K. ohmeri with API 20C System, which led to re-identify the strain of Candida albicans that had been cultured from the BAL fluid as K. ohmeri. With E-test method, the strain was found to be resistant to fluconazole (MIC 4 mg/L) and caspofungin (MIC > 2 mg/L) but sensitive to voriconazole (MIC 0.05 mg/L) and amphotericin B (MIC 0.09 mg/L). Antifungal therapy was switched to voriconazole 4 mg/kg/day. All subsequent blood cultures were negative. Transthoracic echocardiography showed no image consistent with endocarditis. The patient became afebrile and was weaned from oxygen within a few days and voriconazole was discontinued after 10 days. The treatment was stopped by the physicians while the outcome was favourable. |
pmc-6604350-1 | A 59-year-old male underwent uneventful DDLT for decompensated hepatitis B-related liver cirrhosis with a MELD score of 19. The transplant surgery and postoperative course were uneventful. He was discharged on the 11th posttransplantation day with stable liver function. Immunosuppressive protocol was as per standard institution protocol. The patient was admitted after 6 weeks in an emergency department with hypotension, vomiting, and altered sensorium associated with oliguria. Liver functions were grossly elevated, and he had a systolic hypotension of 70 mmHg. Emergency abdominal ultrasound scan showed mild hepatomegaly and an echogenic thrombus in the retrohepatic IVC near the suprahepatic anastomosis () which was confirmed by computed tomography (CT) angiography that also revealed renal vein and iliac vein thrombosis as an incidental finding.
The patient was admitted in ICU and started on anticoagulation therapy, and a digital subtraction inferior venacavogram was done. This showed a focal severe stenosis approximately 70% in the inferior vena cava at the level of the T12 vertebra. There was an associated thrombus 6 × 3 cm within the retrohepatic and suprahepatic inferior vena cava with complete cut-off of the inferior vena cava 3 cm proximal to its junction with the right atrium. Intravascular thrombolysis using urokinase 50,000 IU was immediately instituted, and the patient was maintained on 100,000 IU/hour of urokinase infusion in the IVC with repeated mechanical thromboaspiration. The patient remained stable during the thrombolysis, and there was reestablishment of blood flow across the previously occluded part of the IVC. Post procedure abdominal ultrasound and Doppler ultrasound were done after 48 hrs, and both still showed the presence of a thrombus. Abdominal CT scans also showed severe stenosis in the suprahepatic inferior vena cava just proximal to the right atrial junction with mild to moderate ascites and splenomegaly. The patient had another angiography done which confirmed a 2 cm short segment severe stenosis of about 95% in the IVC at its junction with the right atrium (). The IVC was twisted along its long axis in this region.
He then underwent inferior vena cava venoplasty, and an endovascular stent was inserted whereby a balloon-mounted stent was deployed across the stenosis site to a size of 18 × 32 mmm (). Post stenting, there was improvement in the calibre of the IVC and it was untwisted (). There was no pressure gradient proximal and distal to the stenosis.
Following the procedure, the patient was given low molecular weight heparin 2500 IU subcutaneously for 3 weeks. The patient made uneventful recovery and was discharged 2 weeks post stenting on warfarin with a target international normalized ratio between 2 and 2.5. The liver functions were normal at the time of discharge.
Following the procedure, the patient was given low molecular weight heparin 2500 IU subcutaneously for 3 weeks. The patient made uneventful recovery and was discharged 2 days post stenting on warfarin with a target international normalized ratio between 2 and 2.5. The liver functions were normal at the time of discharge.
Six weeks after discharge, he was reviewed and had no complaints. An abdominal ultrasound done showed no thrombus in the inferior vena cava and the rest of the abdominal organs were normal as well as his liver and renal function tests. |
pmc-6604368-1 | A healthy 13 month-old boy was receiving oral propranolol hydrochloride for a large IH. There was no history of hypoglycemia or other medications. The initial dose of propranolol hydrochloride was 0,5 mg/kg/day and over several weeks was titrated to 1mg/kg/d. He received the treatment for about 9 months and had a significant reduction in the size of IH. The night prior to hospitalization, the child looked tired, drowsy and had a very poor oral intake. Due to his sleepiness, he didn’t receive the evening dose of propranolol. With the child's poor feeding, it was important to skip the propranolol dose and hold it temporarily. Since his mother had no clear information about the importance of taking propranolol with food, as well as when to stop temporarily the propranolol, she gave him the missed dose during the night, without food (about six hours before hospital admission). In the morning the child was unresponsive, unarousable, with a grey pallor. The clinical situation was critical: in a deep coma, with a severe hypothermia (34°C), cold sweats, slow heart beats (60-65 beats/minute) and a low blood pressure (85/46 mmHg). After immediate suspicion, we confirmed a severe hypoglycemia (26 mg/dl). After confirming the hypoglycemia, we asked about the presence of any medication at home, in order to exclude the possibility of a drug poisoning. The mother didn’t inform us at the first moment that the child was taking propranolol for IH. No advices were given to the parents about adverse effects of propranolol and how recognizing signs of its serious adverse effects (including hypotension, bradycardia, wheezing, and hypoglycemia). The child was given initially 30 ml of 10% dextrose solution intravenously, which resulted in stabilization of his glucose level. We continued the treatment with 7.5% dextrose for a few hours after. Clinical condition was completely normalized. |
pmc-6604386-1 | A 57-year-old female patient presented with a chief complaint of abnormal findings upon medical examination. She had no significant lifestyle/family history or medical history. Regarding her history of present illness, the patient was referred to our department after undergoing a computed tomography (CT) scan in September 2017, which revealed a tumor in the descending colon.
Hematological analysis revealed the following results: White blood cell count, 7900/μl; hemoglobin level, 12.6 g/dL; platelet count, 28.4 × 104/μl; carcinoembryonic antigen level, 3.3 ng/mL; and CA 19–9 level, 11.1 U/mL. The results were not significant.
Lower gastrointestinal endoscopy findings revealed a 25-mm type 0-Is lesion observed in the ascending colon and a 30-mm type Is lesion in the descending colon. In the abdominal contrast-enhanced CT findings, the tumors could not be located, and lymph node, lung, or liver metastases were not observed. Regarding histopathological findings, biopsy results revealed that the tumor in the ascending colon was a high-grade adenoma and the tumor in the descending colon was a moderately differentiated adenocarcinoma. Endoscopic tumor resection was not possible due to the difficulty in maneuvering the endoscope in the ascending and descending colon. Thus, surgery was considered.
In the first round of surgery, surgery was initiated with five ports. No ascites, peritoneal dissemination, or liver metastases were observed. The ascending colon polyp was adenoma, but there was a polyp near the ileocecal valve. Therefore, it was difficult to resect the ascending colon and we chosed the right hemicolectomy. The descending colon polyp was adenocarcinoma on biopsy. However, we diagnosed intramucosal cancer and performed descending colon resection. Laparoscopic resection of the descending colon and right hemicolectomy was performed according to standard procedures. There were two functional end-to-end anastomoses. Regarding the clinical course after the first round of surgery, mechanical intestinal obstruction occurred on the 9th day postoperatively, and CT scan showed that intussusception occurred from the functional end-to-end anastomosis (Figs. and ). An attempt at endoscopic reduction was unsuccessful (Fig. ), and open surgery was considered on the 16th day after the first round of surgery.
In the second round of surgery, when midline laparotomy was performed, the site of the ileocolic anastomosis was found to be firmly adhered to the side wall and right retroperitoneum. Because the staple used for anastomosis may have adhered to the peritoneum. The intestines in the proximal side of the anastomosis were not fixed. Examination of the anastomosis revealed that the ileum had passed through the anastomosis and entered the transverse colon (Fig. ). Although manual reduction was attempted, manipulation was challenging. The ileocolic anastomosis was resected. End-to-end anastomosis was performed, and surgery was completed. Histopathological findings revealed no lesions in the resected intussusceptum (Fig. ). Regarding the clinical course after the second round of surgery, the postoperative clinical course was favorable, and the patient was discharged on the 10th day after the second surgery. |
pmc-6604424-1 | A 72-year-old woman was referred to the division of Maxillofacial Surgery, Città della Salute e della Scienza Hospital, University of Turin (Torino, Italy), for an enlarged preauricular mass on the right side of her face. The lesion had slowly been growing for 3 years (). There was no previous history of facial trauma. Her medical history was only remarkable for arterial hypertension and diabetes mellitus type II. Examination revealed a solitary, smooth, nontender, firm, bony asymptomatic swelling over the right zygomatic arch measuring approximately 3 cm in diameter. There were no recent changes in her ability to open her mouth, and no abnormalities were noted in either temporomandibular joint. CT scans confirmed the presence of a 3 cm pedunculated, well-circumscribed, radiopaque, lobulated structure along the lateral border of the right zygomatic arch (). Based on the clinical and radiographic findings, we diagnosed a peripheral osteoma of the zygomatic arch. Given the ongoing growth and cosmetic concerns, the decision was made to surgically remove the tumor.
Under general anaesthesia, the zygomatic arch was accessed via a preauricular incision with temporal extension (Al-Kayat and Bramley's modifications []). After incision, a complete view of the lesion was obtained and the tumor was easily excised. Histology revealed that the specimen was a normal cortical trabecular bone, confirming the diagnosis of an osteoma.
The patient's postoperative course was uneventful with only temporary dysesthesia along the V3 branch of the trigeminal nerve. The symptoms resolved spontaneously after 2 months. The patient was discharged home 5 days after surgery. CT scans 1 year after surgery showed normal bone architecture of the right zygoma, good symmetry, and no signs of relapse (Figures and ). No clinical evidence of recurrence was encountered at the 5-year follow-up. |
pmc-6604445-1 | A 21 years old female patient, of body mass 47 kg and BMI 17.7, came to our emergency department due to paroxysmal abdominal pain for 4 days. The pain was intermittent, moderate to severe, cramping in the epigastric area. She also had diarrhoea 2 days ago and hadn’t had any bowel movements ever since. A similar episode occurred 2 months ago which subsided spontaneously over few days. However, the pain she had this time was so severe that medical treatments she received in urgent clinic, at another hospital, couldn’t provide relief. Upon arriving at the emergency room of our hospital, her vital signs were 37.2 °C, heart rate 98 bpm, respiratory rate 18 bpm, blood pressure 126/92 mmHg. Physical examination revealed a moderately distended abdomen, tenderness in the epigastric area without rebound, positive shifting dullness, and hypoactive bowel sounds. Laboratory tests found white blood cells count was 17.2*10^9/L, neutrophils 88.7% and D-dimer 11.7 mg/L. Abdominal CT scan showed dilatation of proximal small intestine with thickened walls and air-fluid levels and accumulation of massive abdominal ascites. There was no sign of occlusion or filling defect in the superior mesenteric artery and vein, or their distal branches (Figs. & ). She denies any past medical history or on any medications. She is sexually active and had her immunization up to date. Due to the worsening nature of her pain after conservative treatments, acute abdomen was suspected, and a diagnostic laparoscopy was performed to exclude any surgical emergencies. During the surgery, 2500 mL of yellowish ascites were drained (Fig. ). Multiple adhesive bands were seen between the liver and the diaphragm, and in the pelvic cavity (Figs. a & b). Part of omentum was adhered to the right side of the pelvic floor, which was lysed. Inspection of the whole length of small intestine showed dilation and thickened walls of the jejunum, 50 cm in length (Fig. ). The ileum was normal, and no obstruction point was found. The colour and peristalsis of the intestines were normal. The patient was diagnosed as idiopathic peritonitis and pseudo-ileus intra-operatively. The characteristics of the drained ascites was shown in Table . Supportive treatments as well as antibiotics, including cefoperazone and metronidazole, were given immediately after the surgery as Fitz-Hugh-Curtis syndrome was also suspected. However, on the morning of postoperative day (POD) 1, another 2950 mL of ascites were found in the drainage tube. The patient was haemodynamically unstable. Aggressive resuscitation was initiated. The family of the patient later revealed that 6 months ago she had multiple erythema on her palms and cheek, which were purpuric like changes and subsided after herbal medicine. The lupus mesenteric vasculitis (LMV) was then suspected. The lupus tests together with other diagnostic tests were carried out. Their results were shown in Tables and . She was positive for anti-nuclear antibody (ANA), anti-Smith, anti-u1-snRNP, anti-Ro, anti-dsDNA antibodies and low in complements C3 and C4. The patient was diagnosed with systematic lupus erythematosus (SLE) with lupus mesenteric vasculitis. She was treated with 80 mg IV methylprednisolone per day and 0.2 g of oral hydroxychloroquine twice a day with rapid improvement of abdominal symptoms. She resumed normal diet few days after her ascites diminished and was discharged on POD 12. On follow-up, the patient continued her treatments at the rheumatology department and had no surgical associated complications. |
pmc-6604449-1 | A 36-year-old Caucasian woman with no past medical history presented to the emergency department with progressive, diffuse musculoskeletal pain that was dull in character. Initially the pain was localized to the right shoulder, but over 6 months progressed to her back, arm, and knee.
Radiographs showed multiple lytic lesions (Fig. a), and subsequent computed tomograms (CT) revealed extensive lytic lesions to bilateral humeral heads, iliac bones, ischial bones, thoracic spine and lumbar spine with pathologic fracture of T9. Due to new-onset numbness and tingling of her leg, emergent magnetic resonance image (MRI) was obtained which confirmed extensive metastases to the left femur with distal non-displaced diaphysis pathologic fracture, in addition to metastases to the humerus, scapula, clavicle, 4th and 5th ribs, throughout the pelvis, and the spine with pathologic T9 fracture and mild spinal canal stenosis but no cord compression (Fig. b). She underwent left femur fixation by retrograde intramedullary nailing. Whole body positron emission tomography CT (PET/CT) showed extensive hypermetabolic metastasis to the bony skeleton (Fig. a), however a non-osseous primary was never identified despite thorough clinical and radiologic evaluation.
Histopathologic examination of a biopsy from the T9 lesion revealed proliferation of spindle cells with hyperchromatic, pleomorphic nuclei, and irregular nuclear contours organized in swirls giving a nested appearance (Fig. A, B, D, E). Occasional mitoses but no confluent necrosis can be seen. Focal areas of osteoid production and large amounts of reticular substance production can be seen (Fig. A, D). This morphology and activity of the spindle cells was suggestive of a mesenchymal origin of the tumor. However, immunohistochemical staining showed the atypical spindle cells to have scattered staining for OSCAR cytokeratin, with weakly and patchy positivity for pankeratin, hallmarks of an epithelial origin (Fig. G, H). CK7 was negative ruling out synovial sarcoma, metastatic carcinoma of the thyroid, breast, gastrointestinal, pancreatic, renal, bladder, urothelial, cervical, and ovarian origins. GATA3 was negative further ruling out metastatic carcinoma of the breast and urothelium; and excluding sarcomatoid mesothelioma, choriocarcinoma, and gestational trophoblastic tumors. SOX10 did not show any staining excluding soft tissue tumors of neural crest origin and melanoma. S100 staining was absent eliminating the possibilities of melanoma, dendritic cell tumors, myoepithelial tumors, neural tumors, chondroid tumors (Fig. , Table ). These findings were suggestive of a malignant sarcomatoid neoplasm, which could represent the process of metastasis to the bones due to patient’s clinical presentation of multifocal lytic bone lesions. But after thorough clinical correlation and review of all available imaging studies, sarcomatoid carcinoma of a visceral organ was excluded and a final diagnosis of primary sarcomatoid carcinoma of the bone was favored. Histopathologic examination of the intraoperative femur biopsy showed a similar cytomorphologic profile to the T9 biopsy (Fig. C, F, I). Additional stains performed on this section showed the neoplastic cells to be positive for OSCAR (Fig. I) and negative for CD99 and EMA, further ruling out epithelioid sarcoma, synovial sarcoma, and mesenchymal chondrosarcoma. Staining for AE1/AE3, CD45, and CD138 were negative (Fig. , Table ). These findings were also congruent with the diagnosis of sarcomatoid carcinoma.
Due to the multifocal nature of the disease, the patient was not a candidate for curative resection. External beam radiotherapy was employed to prevent worsening of the spinal stenosis. Systemic chemotherapy with eight cycles of gemcitabine 600 mg/m2 and docetaxel 25 mg/m2 every 2 weeks was planned, however the patient only received infusions every 4 weeks due to delays. At 6-month follow-up, she had completed four cycles of chemotherapy and showed a positive treatment response with decreased hypermetabolism of bony lesions (Fig. a, b). However, at 9 months follow up following six cycles, PET/CT showed progression of the lesions, with multifocal areas of increased metabolic activity throughout the spine, sacrum, and pelvis (Fig. b, c). Salvage therapy was attempted with paclitaxel 175 mg/m2 and carboplatin 250 mL every 21 days however the patient only completed one cycle before passing away 1 year after her diagnosis. An autopsy was not performed. |
pmc-6604451-1 | A 64 year old man with non-ischemic dilated cardiomyopathy presented with exertional dyspnea, and progressive New York Heart Association class IV symptoms despite treatment with optimal medical therapy. Following admission to our hospital, the patient was started on a milrinone infusion, but developed refractory ventricular tachycardia associated with worsening cardiogenic shock. This necessitated emergent institution of femoral veno-arterial Extracorporeal Membrane Oxygenation (ECMO). While on ECMO, the patient’s condition stabilized but it was not possible to wean support. It was determined that a durable LVAD would be the appropriate therapy as a bridge to transplant.
Pre-operative echocardiography demonstrated a severely dilated LV with an ejection fraction of 15%. The right ventricle was moderately dilated with moderate dysfunction. The AV was mildly thickened and calcified with moderate AI. Both the mitral and tricuspid valves had severe, functional regurgitation.
The patient underwent AV replacement with a 23 mm Intuity valve (Edwards Lifesciences, Irvine, CA), tricuspid valve repair with a 30 mm MC3 annuloplasty ring (Edwards Lifesciences, Irvine, CA), and HeartWare™ HVAD implant (Medtronic, Minneapolis, MN). The surgery was performed via median sternotomy with aortic and bi-caval cardiopulmonary bypass. The heart was arrested with Del Nido cardioplegia via an antegrade cannula. Through an oblique aortomy the AV cusps were excised and the annulus debrided. The annulus was sized to a 23 mm Intuity valve, and the valve was implanted in standard fashion per the “Instructions for Use”. The aortomy was then closed and the cross-clamp was removed after 51 min. With beating-heart cardiopulmonary bypass, the tricuspid valve was repaired and the LVAD implanted in standard apical-to-ascending aortic fashion. The patient was weaned from cardiopulmonary bypass after 178 min without difficulty.
Post-operatively, the patient was extubated on day 4. He developed a delayed pericardial effusion requiring re-exploration on day 15. He was discharged in stable condition on day 20. Echocardiography prior to discharge demonstrated a well-seated, prosthetic valve with a peak gradient of 3 mmHg and no AI. The AV opened every third beat and the LV was decompressed consistent with a well-functioning LVAD. There was trivial tricuspid and mitral regurgitation. |
pmc-6604464-1 | A 23-year-old male with a previous diagnosis of beta thalassemia major was admitted to the emergency department with complaints about palpitation, dizziness, blurred vision, weakness, and tiredness. His electrocardiography (ECG) showed VT (); thus, the patient was taken to the cardiac intensive care unit (CICU). Serum electrolytes were normal in the emergency department (Na: 138 mmol/lt, K: 4.2 mmol/lt, Ca: 9.8 mg/dl, and Mg: 2.4 mg/dl). The VT continued when the patient was admitted to the CICU (). Blood pressure was 80/60 mmHg. He had rough breathing. Synchronized, 100 J biphasic cardioversion was performed by sedating the patient who had an ECG compatible with VT under emergency conditions. VT was successfully corrected with cardioversion. The ECG was in the sinus rhythm and had ventricular premature beats (R on T) and QT-QTc interval prolongations (). Immediate beta-blocker treatment was initiated. On the 13th day of treatment, QT-QTc intervals were corrected and ventricular premature beats disappeared with maximum tolerable doses of beta-blocker therapy (). He was taking deferoxamine methanesulfonate 500 mg daily for blood chelation. Hemoglobin value was measured as 8.6 mg/dl in laboratory findings. A unit of blood transfusion was given with the recommendation of the Hematology Clinic. Hemoglobin value after transfusion was 9.6 gr/dl, serum ferritin was >1500 ng/l, and serum iron was 251 pg/dl.
Echocardiography revealed that ejection fraction was 69%, interventricular septum was hypertrophic (1.5 cm), left atrium was dilated (end-diastolic diameter 4.1 cm), and stage III diastolic dysfunction (restrictive filling pattern) was observed. A cardiac MRI was requested to screen the iron deposition in the heart of the patient. On MRI imaging, left ventricle (LV) was diffuse hypertrophic and hypointense (dark) (myocardial T2 value 8.67 milliseconds). However, right ventricle (RV) myocardium was normal, stained with MRI (). MRI results were interpreted as deposition of intense iron in the LV myocardium (). As a result of the examinations, it was thought that VT might be related to QT prolongation related to iron deposition in the heart. Electrophysiology study was performed when the patient had normal QT interval and tachycardia was not induced in the procedure. Current situation was told to the patient and relatives, secondary internal cardiac defibrillator (ICD) implantation was decided for prophylaxis, and Medtronic brand MRI compatible DDD-ICD implantation was performed. Beta-blocker treatment continued. The patient did not have any VT recordings at routine polyclinic and ICD control after a month. |
pmc-6604467-1 | A 43-year-old African American female with sickle cell disease presented with two days of severe generalized pain and was found to be in sickle cell crisis. Her past medical history was also significant for asthma, hypothyroidism, and secondary hemochromatosis due to multiple previous blood transfusions. She denied fever, cough, nausea, and vomiting but reported malaise and generalized fatigue. She also had an unintentional weight loss of twenty pounds over the last four months. Surgical history included a laparoscopic cholecystectomy three years prior, with no known complications. Although she had several hospitalizations for sickle cell crises in the last two years, there was no recent history of trauma or invasive procedures. She denied drinking alcohol or smoking tobacco but did admit to occasionally smoking marijuana. Her medications included hydromorphone, tramadol, levothyroxine, folic acid, and an albuterol inhaler as needed. She also received iron chelation therapy as an outpatient.
Vital signs showed temperature 98.1 Fahrenheit (F), pulse 97 beats per minute (bpm), respiratory rate of 17, blood pressure (BP) of 123/74 mmHg, and oxygen saturation of 100% breathing ambient air. On physical examination, the patient was markedly cachectic and appeared to be in mild distress from pain, however was able to speak in complete sentences. Scleral icterus was present, along with a grade 3/6 systolic flow murmur best heard at the left 5th intercostal space. On pulmonary examination, auscultation revealed decreased breath sounds and dullness to percussion over the left lung base. Abdominal exam was significant for diffuse tenderness to palpation and mild hepatomegaly, but no rebound or rigidity was appreciated. There was no evidence of active bleeding and no neurological deficits were noted.
The reticulocyte count was elevated at 19%, serum LDH was elevated at 279, haptoglobin was undetectable, and hemoglobin was decreased from her baseline at 6.1 g/dL. Coombs test was negative. Her initial chemistry panel was abnormal with a total bilirubin of 3.0 mg/dL, direct bilirubin level of 2.06 mg/dL, AST 61 U/L, ALT 33 U/L, ALP 570 U/L, GGT 763 U/L, and albumin 2.5 g/dL. There were no abnormalities of renal function or electrolytes. Her INR was 1.3 and ferritin 7,623 ng/mL. WBC count and platelets were elevated at 13.7 cells/μL and 415 cells/μL, respectively. Ultrasound of the abdomen showed hepatomegaly with a span of 20 cm and mild dilatation of the pancreatic duct, measuring 4 mm. A chest X-ray revealed an isolated large left pleural effusion ().
In addition to aggressive intravenous hydration, iron chelation therapy was initiated along with cautious blood transfusion. Antibiotics were empirically started. Thoracentesis was performed revealing 900 cc of green bilious-appearing fluid () with pleural fluid analysis (PFA) showing an elevated pleural bilirubin (3 mg/dL) to serum bilirubin (2.2 mg/dL) ratio greater than 1, confirming the diagnosis of an isolated left-sided bilothorax (). Pleural fluid studies also showed WBC 676 cells/μL with a lymphocytic predominance (59%), glucose 97 mg/dL, and protein of 8.2 mg/dL. Pleural fluid cytology, gram stain, and culture were negative for infection.
A magnetic resonance cholangiopancreatography (MRCP) showed iron deposition in the liver and bone marrow as well as considerable dilatation of the intrahepatic bile ducts. An abnormal 90-degree acute angulation in the mid-to-distal common bile duct (CBD) was found 2.7 cm from the ampulla of Vater, with proximal CBD and intrahepatic duct dilation. The distal CBD measured 8 mm (). An isolated left intrahepatic duct was seen extending to the distal margin of the left hepatic lobe; however, no clear fistulous connection was seen with the left pleural space (). No evidence of choledocholithiasis or pancreatic mass was seen.
A hepatobiliary scintigraphy scan (HIDA) scan was negative for biliary leak. An endoscopic retrograde cholangiopancreatography (ERCP) showed prominent intrahepatic biliary ducts, however the mid-to-distal common bile duct was poorly visualized below the sharp angulation (). No stricture or leak was seen on multiple injections. A 10 French x 7 cm plastic stent was successfully placed crossing the sharp angulation in the CBD to eliminate the pressure differential in the duct and provide adequate drainage. Given the improvement in symptoms, decortication was deferred during the admission. The patient was scheduled to follow up within two weeks after discharge to schedule a CT of the chest and repeat ERCP with stent removal if the bilothorax had resolved.
The patient was subsequently lost to follow-up despite multiple attempts to reach the patient. Three months after the initial presentation, the patient presented after several syncopal episodes associated with watery diarrhea. She was found to have sickle cell crisis, profound hypoglycemia, and signs of septic shock complicated by disseminated intravascular coagulation (DIC). Initial vital signs showed a temperature 100.2 F, pulse 120 bpm, respiratory rate of 24, BP of 63/28 mmHg, and oxygen saturation of 82% breathing ambient air. Her chemistry panel revealed severe metabolic acidosis and acute renal failure. Her hemoglobin on presentation was 3.9 g/dL, white blood cell 17,000 cells/μL, and platelet level of 56 cells/μL. She developed multiorgan failure along with an initial lactic acid level of 18.2 mmoL/L, procalcitonin elevated at 165.35 ng/mL, and other markers indicating DIC. Pan CT-imaging confirmed bilateral lobar consolidation suspicious for pneumonia and thickening of the jejunum and ascending colon consistent with enterocolitis. On CT abdomen, there was resolution of her previous biliary ductal dilatation with an appropriately positioned common bile duct stent and no recurrence of the bilothorax.
She required intubation and was immediately started on intravenous fluids, pressor support, and broad-spectrum antibiotics. Despite aggressive efforts, the patient sustained a cardiopulmonary arrest and unfortunately passed. Septic workup confirmed bacteremia with blood cultures growing Streptococcus pneumoniae. Functional asplenia and a diminished pulmonary reserve from permanent fibrothorax (due to her previous bilothorax) rendered the patient more susceptible to this encapsulated bacterium. |
pmc-6604469-1 | Our first set of monozygotic male twins presented at 6 years and 6 months old. Twin 1 had bilateral trigger thumb; twin 2 had a trigger thumb and contralateral trigger finger. The twins were treated with A1 pulley release, including flexor digitorum superficialis slip release of the digit. One month later, their sister of 4 years, 9 months old presented with a single trigger thumb and is currently being managed conservatively. None of the patients had a history of trauma and had normal motor and sensory function in affected digits. |
pmc-6604469-2 | Monozygotic male twins presented at 3 years, 4 months old with right-sided trigger thumb (). Both twins were treated with bilateral A1 pulley release (). Again, neither of the patients had a history of trauma and had normal motor and sensory function in affected digits. |
pmc-6604472-1 | A previously well 77-year-old gentleman presented with a 6-week history of right-sided testicular swelling and gradual onset of pain with no preceding history of trauma or known malignancy. He was initially treated in primary care for suspected orchitis but due to persisting symptoms he was referred for a scrotal ultrasound.
The ultrasound study () demonstrated a diffusely enlarged, heterogeneous, hypervascular right testicle with two more discrete hypoechoic intraparenchymal lesions showing minimal internal vascularity and a small associated hydrocoele. The ipsilateral epididymis and spermatic cord also appeared diffusely enlarged and heterogeneous with contiguous involvement of the spermatic cord. As suspicion regarding malignancy was high, with lymphoma the working diagnosis due to age, a staging CT of the neck, chest, abdomen and pelvis was arranged.
CT demonstrated an enhancing right-sided testicular mass () with soft tissue extending along the spermatic cord (Figures –), through the inguinal canal and cranially in the retroperitoneum along the gonadal vein to the level of its insertion into the inferior vena cava (Figures -), locally forming a confluent mass. In addition, an enlarged left faucial tonsil (), a mucosal soft tissue nodule () in the left aryepiglottic fold and bilateral adrenal lesions were identified.
Following a multidisciplinary team (MDT) discussion and with lymphoma being the main differential due to the distribution of the lesions, the testicular mass was biopsied under ultrasound guidance and histology results demonstrated diffuse large B-cell lymphoma (germinal centre subtype). Lymphomatous tonsillar involvement was confirmed on biopsy and gastroscopy following an episode of haematemesis showed gastric infiltration, not evident on imaging. Imaging investigations were completed with whole spine and brain Magnetic Resonance Imaging (MRI) to assess for CNS involvement. The patient was subsequently commenced on chemotherapy for stage VI Diffuse large B-cell lymphoma, with follow-up 3-month imaging showing very good partial response. |
pmc-6604472-2 | An 82-year-old patient with a background of monoclonal gammopathy of undetermined significance (MGUS) and previous prostate cancer treated with external beam radiation therapy presented with constitutional symptoms. On clinical examination an enlarged right testicle was noted and serum biochemistry revealed hypercalcaemia.
A CT of the chest, abdomen, and pelvis was performed to assess for a new underlying malignancy or prostate cancer recurrence. The study demonstrated a large right-sided scrotal mass (Figures –) with soft tissue extending through the inguinal canal and along the right gonadal vein throughout its course to the insertion point into the inferior vena cava (Figures -), as well as a few bilateral lung nodules measuring up to 14mm, considered to be metastatic ().
A subsequent ultrasound () was performed to further assess the scrotal lesion. This showed a heterogeneous mass replacing the right testicle, with mass like soft tissue infiltration of the right epididymis and spermatic cord, demonstrating increased Doppler vascularity.
After discussion at the urology cancer MDT a differential diagnosis of sarcoma and lymphoma was suggested and a decision for ultrasound guided biopsy of the testicular lesion was made, rather than orchiectomy due to epididymal and spermatic cord involvement. Histology was consistent with diffuse large B-cell lymphoma, germinal centre subtype. The patient was subsequently referred to haematology and following 3-cycles of chemotherapy demonstrated complete radiological response. |
pmc-6604474-1 | A 63-year-old Caucasian man with a history of benign prostatic hyperplasia with urinary obstruction, distant history of motor vehicle accident status-post multiple fractures and emergency splenectomy, psoriatic arthritis (PsA), and diffuse idiopathic skeletal hyperostosis diagnosed more than 10 years ago presented with fever and weakness. His psoriatic arthritis had been initially controlled with nonsteroidal anti-inflammatory agents; however, eventually he required short courses of prednisone and methotrexate (MTX). Adalimumab was added to methotrexate when the patient was not improving. He had a sustained response to this therapy for almost 2 years. While on this combination therapy, he developed worsening joint pain, fever, left lower extremity weakness, severe myalgia in proximal thigh muscles, lower and upper extremity arthralgia, unsteady gait, and acute urinary retention. He had fever for 1 week prior to hospital admission. Physical examination upon admission was pertinent for tender bilateral, submandibular lymphadenopathy, and left lower extremity weakness (4/5 strength on the left hip flexor and 5/5 strength on the right) without meningismus, nuchal rigidity, wide-based gait without foot drop, up going toes (positive Babinski), decreased perianal sensation, and tender bilateral thighs. He needed Foley catheterization for urinary retention for four days after failing a voiding trial. 18 days prior to this hospitalization, he temporarily stopped adalimumab and methotrexate due to an active ear infection but restarted it one week prior to hospital presentation.
Other medications included atenolol, Ativan, folic acid, sumatriptan, and tamsulosin. Family history was notable for a daughter with ulcerative colitis (UC) and bile duct cancer, a son with glioblastoma, a brother with UC, and three sisters having lupus with sicca syndrome, celiac disease, and seronegative rheumatoid arthritis. He had a 25-pack year smoking history.
Investigations done during the index hospitalization included brain MRI which showed T2-FLAIR hyperintense lesions in the juxtacortical, deep and periventricular white matter of the bilateral cerebral hemispheres, and infratentorial lesions in the right middle cerebellar peduncle, some with a ring-like appearance without enhancement (). A CT scan of the chest/abdomen/pelvis demonstrated diffuse interstitial lung diease with linear opacities at the bases and numerous small nodules measuring 2-4 mm (some in clusters and some were subpleural). There were also few tree-in-bud, mediastinal, hilar, and subcarinal adenopathy with the largest measuring 1.7 cm. A 1.7 cm x 1.3 cm hypodense lesion was seen in the liver (). MRI abdomen noted a 2.3 cm liver lesion consistent with hemangioma, 1.8 cm cyst, and a 1.3 cm ovoid lesion (). Cerebrospinal fluid (CSF) showed cell count 101/mm3 (85% lymphocytes), total protein 55 mg/dl, glucose 59 mg/dl, no oligoclonal bands, JC virus polymerase chain reaction (PCR) < 500 copies, negative CSF cultures for bacteria, mycobacteria, herpes simplex virus (HSV), Epstein–Barr virus, varicella zoster virus PCR, human herpes virus-6 PCR, enterovirus, cryptococcal antigen, equivocal Lyme IgG/IgM antibody (Ab), negative Lyme western blot, galactomannan, and nonreactive venereal disease research laboratory. Blood work revealed elevated erythrocyte sedimentation rate 65 mm/hr, elevated C-reactive protein 76.2 mg/L, high normal aldolase 7.2 U/L, and normal liver function tests. Serological evaluation for infection was remarkable for equivocal Lyme ELISA but negative Lyme western blot, negative blood and gonococcal cultures, negative interferon-gamma release assay for tuberculosis, negative Babesia, malaria antigen, anaplasma, chlamydia/gonorrhea nucleic acid, negative hepatitis B core Ab, surface antigen, and hepatitis C viral Ab, nonreactive HIV, negative HSV IgM by immunofluorescence assay, cytomegalovirus (CMV) viral load, and CMV Ab. Serological evaluation for inflammatory disease was remarkable for high-titer antinuclear antibodies 1 : 640, positive scleroderma-70 Ab 41.27, high normal complement C3 level 157, positive antismooth muscle Ab- 1 : 40, normal complement C4 level 30, negative dsDNA, normal serum angiotensin converting enzyme levels, rheumatoid factor <30, negative SS-A/SS-B, and neuromyelitis optica antibodies. At this point, Neurology thought this was a rare case of drug-induced cerebral demyelination secondary to adalimumab.
He was started on ceftriaxone for possible Lyme myelitis on admission and acyclovir for possible HSV encephalitis. These medications were stopped because CSF and serum Lyme along with HSV PCR returned negative. His fever, left lower extremity weakness, gait instability, and urinary retention improved during his admission such that upon discharge; he had a normal neurologic exam and was voiding normally. He did not receive corticosteroids. He was discharged with plans to follow the central nervous system (CNS) and pulmonary and hepatic lesions as an outpatient. Subjective muscle weakness and gait instability took several weeks to completely resolve. He returned to work full-time.
Due to concerns raised for abnormal liver lesions, a PET-CT done after hospital discharge demonstrated a 3 cm hypermetabolic liver mass concerning for neoplasm such as hepatocellular carcinoma, sarcoid nodule, or other granulomatous lesion and a resolution of the previously noted 1.7 cm subpleural nodule (). A subsequent liver biopsy showed septal inflammation with associated portal and lobular hepatitis which was not clearly diagnostic for a specific condition but concerning for drug-induced liver injury as anti-TNF-alpha agents have been associated with this []. A surveillance CT abdomen/pelvis 3 months after the initial one showed a resolving right hepatic hematoma but new numerous subcentimeter hypodense lesions throughout both hepatic lobes and numerous subcentimeter pulmonary nodules throughout both lungs (). Concern for drug-related sarcoidosis or atypical mycobacterial infection was raised due to the multisystem involvement and drug exposure given reports in the literature []. A repeat PET-CT 6 months after the initial one demonstrated decreased size of the innumerable liver lesions with no new or enlarging hepatic lesions but continued numerous pulmonary nodules. He then underwent bronchoscopy followed by video-assisted thoracoscopic surgery (VATS) wedge resection, which revealed multiple caseating granulomas (Figures and ). Cultures from the bronchoalveolar lavage (BAL) fluid yielded rare Staphylococcus capitis thought to be from oral flora. BAL culture remained negative for fungi, Legionella, anaerobes, and acid-fast bacilli after two months. Acid-fast bacilli and silver stain performed on tissue sections from the wedge resection were negative for organisms. |
pmc-6604475-1 | A 59-year-old healthy Japanese female with chronic rhinitis was taken to our emergency department due to a sudden and painless left periorbital swelling following forceful nose-blowing. Examination revealed a gross swelling of the left eye. There was painless palpable emphysema around her left eye; she had normal eyeball movement and visual activity. By ophthalmic consultation, the intraocular pressure was found to be slightly higher in her left eye (20 mmHg) compared to the right (13 mmHg). Noncontrast CT revealed orbital subcutaneous and subconjunctival emphysema and fracture of the median orbital wall of the left eye. Focal herniation of extraconal fat into the ethmoid air cells was noted (). Otherwise, her extraocular muscles, optic nerve, and globe were unremarkable. The patient was treated conservatively with prophylactic administration of oral cefdinir and ofloxacin eye ointment and referred to her nearest doctor for outpatient follow-up. The patient was instructed to not blow her nose and advised regarding symptoms requiring immediate review. By the next day, the orbital swelling and periorbital emphysema had partially resolved with normal intraocular pressure. |
pmc-6604487-1 | A 32-year-old female with a history of hyperthyroidism status after radiation resulting in hypothyroidism and no history of seizures presented with an acute onset of behavioral changes and witnessed seizure activity. Family history is remarkable for thyroid disease in multiple relatives, but negative for seizure or psychiatric disorders. Behavioral changes included uncontrolled laughter, screaming, signs of agitation, spitting on the floor, complete lack of appetite, and speaking in a British accent. A further history revealed that the patient is of Caucasian descent, was born in Germany, moved to the United States when she was a baby, and has no ties to Britain.
She had two seizures both involving tongue biting and postictal confusion with combative behavior. Her workups for seizures, including but not limited to head CT, urine drug screen, and electrolyte levels, were all within normal limits. She, as well as her family, refused MRI and subsequently was discharged on levetiracetam for new onset seizures. On the fourth day of illness (DOI), the patient was admitted to a local community hospital with continued behavioral changes, where an MRI and lumbar puncture (LP) were found to be unremarkable, with a WBC count of 1 cell per mm3. Other CSF parameters include a RBC count of 10 cells per mm3, glucose of 53 mg per dL, and protein of 26 mg per dL. She was subsequently transferred to our hospital care on the fourteenth day of illness because of persisting and worsening behavioral changes. Upon revisiting the initially unremarkable impression of the MRI, abnormal T2 flair hyperintensity in the mesial temporal lobes was noted, with left lobe hyperintensity greater than that of the right lobe (). These features raised suspicion for limbic encephalitis.
Titers for serum anti-NMDAR and paraneoplastic antibody panel were sent on clinical suspicion. Video EEG () showed frequent focal onset electrographic seizures from the left frontocentral and left frontotemporal region. Some of these electroclinical seizures showed delta brushes (). With strong clinical suspicion for an anti-NMDAR or paraneoplastic antibody related encephalitis, before even receiving antibody titer results, the patient was started on five-day IV steroids on the fourteenth DOI, and IVIG course started on the fifteenth DOI.
At this point, multiple differential diagnoses were being considered including autoimmune encephalitides. During hospital admission, the patient continued to remain afebrile. Repeat LP showed lymphocytic pleocytosis, with a quantitative value of 54 cells per mm3 with 98% lymphocytes, after which she was started on empiric acyclovir until HSV PCR was later confirmed to be negative. All other CSF findings were insignificant, with a normal protein level of 16.8 mg per dL, no RBCs, and an elevated glucose level of 95 mg per dL. She continued to have seizures requiring Lacosamide followed by an addition of Lamotrigine. On the fifth day of IVIG course and twentieth DOI, NMDAR antibody was found to be positive in the serum. CT of the chest, abdomen, and pelvis showed no evidence for neoplasms and a transvaginal ultrasound was negative for ovarian teratoma. CSF was positive for NMDAR antibody with a titer of 1:64. After completion of IV steroids and IVIG, there was no significant clinical improvement. She was started on rituximab on DOI 27 for a total of 4 weeks given weekly, with subsequent clinical improvement in addition to no clinical seizures on EEG and resolution of her new onset British accent.
The patient continued to have subclinical focal seizures, catatonia, and orofacial dyskinesias with subsequent gradual improvement in her behavior at discharge. When seen for follow-up as an outpatient, she still was found to have some residual memory and cognitive processing deficits. The patient continues to follow up in the hospital for rituximab infusions which is controlling her anti-NMDAR encephalitis and she has now returned back to baseline health. |
pmc-6604489-1 | An 8-year-old girl was admitted to our department because of an 11-day history of persistent dry cough. Her medical history was not significant. The girl and her parents denied any history of choking or FB aspiration. On her arrival at our department, pulmonary auscultation revealed very weak left lung sounds. Chest computed tomography revealed a soft tissue density at the left lower lobe bronchus (LLLB) with stenosis of the left main bronchus and emphysema of the left lower lobe ().
Airway exploration by fiberoptic bronchoscopy under sedation and local anesthesia through the nasal route was performed to locate the suspected bronchial lesion. Bronchoscopy revealed that the stenosis of the left main bronchus was caused by a bridging scar tissue (). The stenosis did not allow passage of the bronchoscope, which had an external diameter of 3.6 mm. A smaller bronchoscope with an external diameter of 2.8 mm was able to pass through either lumen divided by the bridging scar tissue. Advancement of the bronchoscope revealed that the bridging scar tissue ended 5 mm above the left second carina, and a pink tubular-shaped FB was lodged in the LLLB. However, the nature of the FB in the left main bronchus was unclear. Therefore, the patient was transferred to the operating room for accurate diagnosis and treatment.
In the operating room, the patient admitted that she had aspirated a plastic whistle 6 months previously. A laryngeal mask was used during general anesthesia, allowing the patient to breathe spontaneously. A swivel adapter was used to connect the proximal end of the laryngeal mask to the T-piece anesthesia system. A flexible fiber bronchoscope (4.9 mm outer diameter) was inserted via the swivel adapter. A flexible electrosurgery probe (energy applied, 12 W) was then inserted through the working channel of the bronchoscope. The target scar was endoscopically visualized and cut by the probe. A grasping forceps was introduced via the suction channel of the bronchoscope to remove the FB. However, lack of sufficient pulling force prevented removal of the FB. A rigid bronchoscope was then introduced, and we successfully removed the plastic whistle from the LLLB using rigid forceps (). Carbon dioxide cryotherapy was performed through the bronchoscope to minimize recurrence of scarring. The tip of the cryoprobe was positioned directly on the scar. Freezing was performed for 1 min (at least twice), and the probe was moved until the entire visible lesion had been frozen.
Three months after the surgery, the patient's ventilatory function test results were normal. Bronchoscopic examination showed good patency of the truncus and LLLB (). |
pmc-6604491-1 | A 56-year old white woman was referred to our clinic for prosthetic crown reconstruction of two missing molars in the maxilla. The patient lost her teeth (15, 24 FDI) 15 months ago because of a deep carious lesion. The patient was not using any dental prostheses post the extractions. Medical history revealed that she suffered from hypertension and osteoporosis, which were all under medical control. For her osteoporosis, the patient used oral bisphosphonate of alendronate (Fosamax) at a dose of 70 mg/week for 24 months. During the time of osteoporosis treatment with alendronate, there were no accidents of bone osteonecrosis following the teeth's extraction.
After a consultation with the medical doctor of the patient and reviewing the literature concerning surgical therapy in patients with osteoporosis, we decided to perform the placement of the implants without stopping the bisphosphonate therapy. However, before the operation the patient was given antibiotic treatment with amoxicillin+clavulanic acid (Amoxiclav, Sandoz, Poland) at a dose of 1000 mg/day for 1 week, and laser photobiomodulation using a diode laser with a wavelength of 635 nm (dose of 4 J per point, 2 points at each site) was performed one day before the procedure.
Intraoral examination using CBCT (Kodak 9000 3D, Carestream/Trophy, Marne-la-Vallée, France) revealed that the volume of the ridge at the right side of the maxilla was 4.5 mm in width and 16.5 mm in height. At the opposite left side of the maxilla, the ridge amounted to 3.0 mm in diameter and 13.5 mm in height (). A written informed consent form was signed by the patient before the treatment.
The surgical procedure was conducted under local infiltrative anesthesia with articaine hydrochloride 4% plus epinephrine (Ubistesin®, 3M, USA). The access to the buccal and lingual part of the maxillary crests on both sides was prepared with a cold blade and a soft tissue elevator. Three cuts were conducted during the proceedings of the ridge splitting: one horizontal cut on the alveolar ridge and two vertical cuts on the buccal bone plate using the piezosurgery unit (Piezotome Solo, Acteon, New Jersey, USA) with a BS1 tip. In the first phase of the implant bed preparation, the Lindemann guide drill with a diameter of 2.2 mm was utilized; then, the ridge was split employing a bone spreader (Meisinger, Colorado, USA). In the last stage, the final drill with a diameter of 2.9 mm was used to prepare the implant bed, and two ICX-plus implants (ICX, Germany, USA) with a width of 3.45 mm and a length of 10 mm were placed. On both surgical sides, the guided bone regeneration was done using an alloplastic material (SinossGraft, Novadento, Italy) and a collagen membrane (SinossMem, Novadento, Italy) with a long disintegration time (5-6 months). The wound was protected using a nonabsorbable monofilament and an uncoated suture made of polyamide (Dafilon, B. Braun, Germany) with a size of 4.0 ().
After the surgery, an antiseptic mouth rinse (chlorhexidine gluconate 0.12%, twice a day for 7 days) was directed and the patient was provided with the usual postsurgical indications (cold compresses in the first two days, antibiotic treatment with amoxicillin+clavulanic acid (Amoxiclav, Sandoz, Poland) at a dose of 1000 mg/day for 1 week, and nonsteroidal anti-inflammatory drugs, i.e., ibuprofen 200 mg, 3 times per day for 3 days).
Five months later, the implants were uncovered with use of a scalpel and healing screws were placed for two weeks. Next, the open tray method with prosthetic transfers was used to take the impression of the upper jaw. After ten days, the final porcelain crowns were made by a dental laboratory and cemented onto the implants ().
Every six months, the patient was referred for a check-up visit and the last control 24 months after the prosthetic crown placement showed a lack of bone loss in the collar part of both implants and the normal status of the peri-implant soft tissue without any signs of inflammation (Figures and ). |
pmc-6604494-1 | A 6-year-old boy was referred to the Oral and Maxillofacial Department at Alder Hey Children's Hospital, Liverpool, UK, with a painless left mandibular swelling. The mass had been present for two weeks and was gradually increasing in size. There was no complaint of difficulty in mastication, and there was no history of paraesthesia or discharge. The patient was systemically well and a full blood count was within normal limits. He had no relevant medical, drug, or familial history.
Clinical examination did not reveal any facial asymmetry or cervical lymphadenopathy. Intraorally, there was a localized swelling with expansion of the mandibular buccal plate extending from the left mandibular canine to the left first permanent molar (). On palpation, the swelling was nontender with a hard consistency and was fixed to the deeper tissues. The overlying mucosa was within normal limits. All four first and second deciduous molars were carious, and the lower left first deciduous molar and lower left second deciduous molar were splayed due to the lesion.
Radiographically, an orthopantomogram (OPG) showed a multilocular, radiolucent lesion with scalloped margins affecting the left hemimandible (). It extended anteroposteriorly from the distal aspect of the unerupted lower left canine to the mesial aspect of the lower left first permanent molar and approached the inferior border of mandible. The roots of the lower left first and second deciduous molars were resorbed, and the first and second premolar tooth germs were absent. A computed tomogram (CT) showed marked cortical thinning and some internal calcification but no evidence of internal septations. In some areas, the cortex appeared breached (Figures – and ).
An incisional biopsy and removal of all carious primary teeth under general anaesthesia was performed. The lesion was submitted for histopathological examination. Histological sections (Figures , , and ) showed a soft tissue specimen consisting of cellular/fibroblastic fibromyxoid stroma resembling primitive mesenchyme or developing dental papillae. The stromal fibroblasts had a diffuse or nodular arrangement. Towards the periphery of the fibroblastic stroma were various collections of “budding” cords and nests of odontogenic epithelium. Some islands of cells showed peripheral palisading and central squamatization and calcification. Several of the cords were rimmed by hyalinised material but not developed enough to qualify as dentine. Given that the lesion appeared uniformly radiolucent on imaging and did not include aberrant tooth germ-like structures, the features were consistent with a diagnosis of an AF.
The case was discussed at a craniofacial multidisciplinary team meeting. The proposed treatment involved enucleation of the tumour and reconstruction of the defect with a full-thickness parietal calvarial bone graft. The lesion was exposed via a transoral mucoperiosteal flap which extended from the lower left central incisor to the lower left wisdom tooth. While the lesion was successfully enucleated (), it was found to have perforated both the buccal and lingual (posterosuperiorly adjacent to the molar teeth) cortices. In addition, it was found to be enveloping the mental nerve via the foramen and therefore the nerve was sacrificed.
The parietal bone graft was harvested via a full-thickness parietal scalp incision. The outer and inner tables were harvested as a single block, then separated on a “back-table,” with the inner table replaced over the dura and secured via titanium miniplates. The outer cortex and underlying cancellous bone were then cut into several small pieces (cortic-cancellous) facilitating placement into the mandibular defect.
The surgical specimen was then sent for formal histopathological examination. Gross pathological analysis showed an irregular mass of white rubbery tissue measuring 30 × 25 × 15 mm (). The cut surface was yellowish/white in colour with a rubbery consistency and clearly extended to the resection margin of the enucleation. Histological sections showed small islands and strands of basophilic ameloblastic epithelium in a background of abundant stroma with bland oval to spindle cells. No necrosis, atypia, or mitoses were present. There was focal inflammation and collection of macrophages. Further soft tissue specimens from the superior, inferior, and posterior-lingual margins did not show any tumour invasion. Overall, the histological features were considered to be characteristic of a conventional ameloblastic fibroma, neither the granular nor cystic variant.
The postoperative period was uneventful, and the patient was discharged two days following surgery. He is currently under regular clinical and radiographic follow-up. An OPG taken 10 months post-surgery shows good bone formation with no signs of tumour recurrence (). |
pmc-6604495-1 | A 48-year-old woman presented to our hospital with a mass in her right breast (). A malignant phyllodes tumor was diagnosed via core needle biopsy, and right total mastectomy was performed. The pathological findings were consistent with the preoperative diagnosis, and the margins of the resected tissue were negative.
One year later, the patient presented with cough and dyspnea. Computed tomography revealed a 2.2 cm mass in the right lung () and 10 cm mass and pleural effusion in the left lung (). The masses were diagnosed as recurrent malignant phyllodes tumors. They were deemed unresectable because they were present in both lungs, and pleural dissemination was suspected.
As an alternative treatment, we administered 8 courses of doxorubicin-ifosfamide (AI) therapy (30 mg/m2 doxorubicin on days 1-2 and 2 g/m2 ifosfamide on days 1-5) (). After chemotherapy, the right lung mass regressed completely (), the left lung mass regressed to 2 cm (), and pleural effusion was no longer detected. All 8 courses of AI therapy included mesna (sodium 2-mercaptoethane sulfonate) and sufficient infusion volumes to prevent ifosfamide-related hemorrhagic cystitis. Hemorrhagic cystitis did not occur during any of the courses.
Grade 4 neutropenia (as defined by the Common Terminology Criteria for Adverse Events (CTCAE)) occurred on day 15 of the first treatment cycle. To prevent the neutropenia from advancing, filgrastim, a granulocyte colony-stimulating factor, was administered on days 15 and 16 of the first cycle and pegfilgrastim, a persistent granulocyte colony-stimulating factor, was administered on day 8 or 9 of the following cycle. Febrile neutropenia was not observed during any of the courses.
We administered a diuretic drug at a concentration appropriate for the patient's weight when indicated, as well as a selective neurokinin 1 (NK1) receptor antagonist or other antiemetic. NK1 receptor antagonist administration was extended to 5 days owing to grade 2 nausea (as defined by the CTCAE) after the second cycle, and good control of the nausea was achieved. No other severe adverse events were noted. To avoid cardiotoxicity, AI therapy was terminated after 8 courses. Surgery was considered at this point but was refused by the patient. Thus, 4 courses of docetaxel (75 mg/m2) were administered instead.
Although the right lung mass did not reappear (), the left lung mass increased in size to 5.5 cm (). As a result, the patient consented to surgery. Total left lung extraction and partial pericardial resection were performed. Pathological findings were consistent with a diagnosis of lung-metastatic breast phyllodes tumor, and curative resection was achieved (). Four months after lung surgery, a 10 cm mass in the mediastinum () and 6 cm mass in the left thoracic cavity () were observed. The patient was therefore diagnosed with recurrent malignant phyllodes tumor of the left lung. One course of ifosfamide monotherapy (2 g/m2 on days 1-4) was administered. However, the patient's condition worsened abruptly before discharge and she died. |
pmc-6604497-1 | A 60-year-old Caucasian female with medical history of obstructive sleep apnea, seasonal allergies, and osteoarthritis who presented with weakness and numbness in all four extremities for 4 weeks. Initially, she had bilateral burning pain at the tips of her fingers and toes that progressed later to pin-and-needle paresthesia. The paresthesia was associated with low grade fever, bowel and bladder incontinence, and vague dull neck pain. Her home medications are acetaminophen, methocarbamol, and vitamin D supplementation and she is allergic to aspirin, calcium, cortisone meperidine, phenytoin, gabapentin, ibuprofen, naproxen, penicillin, salicylate, and sulfa drugs. She denied alcohol, tobacco, and illicit drug use.
She has a past surgical history of 2 caesarian sections, hemorrhoidectomy 31 years ago, and splenectomy after a remote vehicle accident 35 years ago. 5 months prior to this presentation, she underwent decompressive laminectomy for a C1-C5 cervical mass originating from the dorsal part of the cervical epidural space. The pathology report from the resected mass revealed an inflammatory mass with extensive collagenized background and a polymorphous-appearing cell infiltrates with a mixture of small lymphoid cells, plasmacytoid cells, very occasional eosinophils, and neutrophils.
At admission, she was alert and oriented and maintaining normal vital signs. Physical examination revealed that her neck was supple without lymphadenopathy but was significant for neck tenderness. CNS examination revealed intact cranial nerves, 3/5 power strength and 2+ reflexes in upper extremities bilaterally, 2/5 strength and 3+ reflexes in lower extremities bilaterally, intact sensation in all four extremities, and no saddle anesthesia. The rest of the physical examination was unremarkable.
CBC, serum electrolytes, and blood chemistry were unremarkable. Magnetic resonance imaging (MRI) of the thoracic spine showed T2-diffuse enhancement of extradural soft tissue mass with marked spinal canal stenosis, most prominent at the level of T4-T5 (). Whole body positron emission tomography (PET) scan showed no evidence of malignancy with no abnormality demonstrated in the spleen, liver, pancreas, salivary or adrenal glands. There were prominent bilateral jugular nodes with a standard uptake value of 2.6 on the right and 2.3 on the left. Lumbar puncture was performed and cerebrospinal fluid (CSF) cytological analysis revealed mature lymphocytes and monocytes with no malignant cells. Flow cytometry showed no immunophenotypic evidence of non-Hodgkin's lymphoma.
A laminectomy of T2 through T6 with excisional biopsy of the epidural mass was performed. The histological examination of the extradural mass chronic inflammatory infiltration composed of lymphocytes, plasma cells, histiocytes, neutrophils, eosinophils, mast cells (). It also showed dense collagen deposition and fibrous tissue formation with focal germinal center formation (). The classic storiform fibrosis pattern was identified in the biopsy material, but no phlebitis obliterans was identified. KAPPA-ISH and lambda-ISH stains showed poly-clonality with an equal mixture of kappa positive and lambda positive plasma cells. AFB and PAS stains show no mycobacterial or fungal organisms. Immunohistochemistry was performed to evaluate the nature of the plasma cells, and it revealed an IgG4+/IgG+ ratio of 47% which was diagnostic for IgG4-RD. Serum immunoglobulins were then checked and showed a total IgG of 17.65 g/L and elevated IgG4 fragment (2.07 g/L). |
pmc-6605631-1 | A 41-year-old Japanese man underwent esophagogastroduodenoscopy screening. He had diabetes mellitus, hypertension and dyslipidaemia, and was receiving metformin, amlodipine and pravastatin. He had no history of gastrointestinal disease. The physical examination revealed no abnormalities and no evidence of peripheral lymphadenopathy. Laboratory findings demonstrated elevated levels of choline esterase (475 U/L), aspartate aminotransferase (54 U/L) and alanine aminotransferase (89 U/L), probably related to non-alcoholic fatty liver. The white blood cells count (9,090/μL) and eosinophil fraction (11.3%) were increased, but no atypical lymphocytes were identified in the peripheral blood. The patient’s serum was positive for anti-H. pylori immunoglobulin G antibodies, and his urea breath test was also positive.
Esophagogastroduodenoscopy showed a diffuse miliary pattern with slightly whitish, small elevations in the gastric body (). The multiple granular elevations were emphasised on narrow-band imaging () and after indigo carmine spraying (). A mild atrophic change was noted in the gastric antrum compared with the gastric body, but the granular appearance was not evident (). A biopsy specimen from part of the small elevations of the gastric body revealed follicle formation (). Infiltrating lymphocytes within the follicle were monomorphic () and positive for CD20 (), but they were negative for CD3 (), CD10 () and Cyclin D1 (). Staining with haematoxylin and eosin () and anti-human cytokeratin clone CAM5.2 showed lymphoepithelial lesions (). Fluorescence in situ hybridisation (FISH) analysis for t(11;18)(q21;q21) translocation revealed no fusion genes of baculoviral IAP repeat-containing protein 3 (BIRC3)-MALT1. On 18F-fluorodeoxyglucose positron emission tomography, no tracer uptake was noted. Colonoscopy and bone marrow biopsy revealed no lymphoma lesions as well. Consequently, the gastric lesion was diagnosed as stage I MALT lymphoma of the stomach.
Because the patient tested positive for H. pylori, eradication treatment was attempted. Esophagogastroduodenoscopy performed 3 months after the completion of eradication treatment showed disappearance of the small elevations, while whitish spots were partly observed in the gastric body (). Elimination of neoplastic cells was pathologically confirmed on the biopsy specimens. No recurrence was documented for 45 months since complete remission was achieved. Esophagogastroduodenoscopy performed 45 months after achieving complete remission showed that the whitish spots had almost disappeared (). |
pmc-6605631-2 | A 54-year-old Japanese woman underwent esophagogastroduodenoscopy for screening purposes. She had been receiving amlodipine for the treatment of hypertension. The physical examination revealed no abnormalities. The laboratory findings demonstrated elevated levels of glutamyl transpeptidase (111 U/L). Other blood chemistry and complete blood count were within the normal ranges. The test for serum anti-H. pylori immunoglobulin G antibodies showed positive results.
Esophagogastroduodenoscopy showed multiple slightly whitish, small elevations in the lesser curvature of the gastric body (). The granular appearance was not evident in the gastric antrum (). Biopsy from the elevation revealed diffuse infiltration of monomorphic lymphocytes, which were predominantly positive for CD20 on immunochemical analysis (). FISH analysis for t(11;18)(q21;q21) translocation revealed no fusion genes of BIRC3-MALT1. Gastric MALT lymphoma was highly suspected, but definitive diagnosis could not be established, because no prominent lymphoepithelial lesion was identified. The patient underwent eradication treatment for H. pylori. Esophagogastroduodenoscopy performed 5 months after H. pylori eradication revealed regression of small elevations (). Monomorphic lymphocytes and H. pylori disappeared from the biopsy specimens. However, esophagogastroduodenoscopy performed 24 months after the initial examination showed re-emergence of miliary appearance in the gastric body. Infiltration of monomorphic B-cells was noted in the biopsy specimens, and the lesion was pathologically diagnosed as probable MALT lymphoma of the stomach. Five months later, multiple granular elevations remained on the lesser curvature of the gastric body (). Pathological analysis revealed infiltration of small- to medium-sized monomorphic B-cells () showing prominent lymphoepithelial lesions (). Thus, the definitive diagnosis of gastric MALT lymphoma was established. The patient underwent computed tomography, colonoscopy and bone marrow biopsy, and no lymphoma lesions were noted. Radiotherapy was planned for the treatment of gastric MALT lymphoma. |
pmc-6605692-1 | A 61-year-old Caucasian man presented to the emergency department in autumn with one week of dyspnea, productive cough, myalgia, and fever. He denied any chest pain or hemoptysis. His past medical history was significant for hypertension, diabetes mellitus, chronic kidney disease, and non-Hodgkin’s lymphoma with receipt of an allogeneic stem cell transplant 13 years prior. Given prior complications due to graft versus host disease, he was receiving prednisone at a maintenance dose of 15 mg daily for several years. He had multiple documented allergies to penicillin, sulfa drugs, macrolides and fluoroquinolones, with reported reactions including rash, hives, and anaphylaxis. Approximately one week prior to the onset of symptoms, he was traveling in the Midwest United States with his partner and staying in various hotels.
Upon arrival to the hospital, he was noted to have a heart rate of 130 beats per minute, a blood pressure of 128/76 mmHg, a respiratory rate of 30 breaths per minute with an oxygen saturation of 89% requiring eight liters of supplementary oxygen, and an oral temperature of 39.8°C (103.6°F). He was in acute respiratory distress and had evident decreased breath sounds and crackles bilaterally. He was noted to have normal heart sounds without any murmurs, rubs, or gallops. He did not have any rash on examination.
Laboratory investigations revealed a normal peripheral leukocyte count of 10.4 x 109 cells/L (10.4 x 103 cells/µL) , decreased hemoglobin of 110 g/L (11.0 g/dL), decreased platelet count of 96 x 109 cells/L (96 x 103 cells/µL), and increased creatinine of 676 µmol/L (7.65 mg/dL). His liver enzymes were normal. His initial chest radiograph revealed diffuse, bilateral air space opacities in the mid and lower lung zones (Figure ).
Two sets of blood cultures were collected and sputum samples were sent for culture as well as stains and polymerase chain reaction (PCR) testing for Pneumocystis jirovecii (P. jirovecii). A nasopharyngeal sample was collected for respiratory virus PCR testing for influenza A and B, respiratory syncytial virus A and B, coronavirus, parainfluenza virus, rhinovirus, enterovirus, adenovirus, bocavirus, and metapneumovirus. In addition, a serum cytomegalovirus (CMV) PCR and Legionella urine antigen were sent. He was empirically started on meropenem, vancomycin, oseltamivir, and intravenous pentamidine.
Despite initiation of broad spectrum antimicrobials, he continued to deteriorate with increasing oxygen demands, persistent fever, hemodynamic instability, and worsening radiographic infiltrates (Figure ).
Sputum and blood cultures were negative for any bacterial growth; sputum stains and PCR were negative for P. jirovecii. His serum CMV PCR was negative. His nasopharyngeal swab for respiratory virus testing was negative for influenza A and B, respiratory syncytial virus A and B, coronavirus, parainfluenza virus, rhinovirus, enterovirus, adenovirus, bocavirus, and metapneumovirus; however, his Legionella urine antigen was positive.
According to his pharmacy records, he had previously received and tolerated a five-day course of moxifloxacin approximately one year prior to this hospital admission. Given his diagnosis of Legionnaires' disease, intravenous moxifloxacin therapy was initiated. However, shortly following receipt of his first dose of moxifloxacin, he developed an allergic reaction with a generalized, erythematous, maculopapular rash and angioedema, necessitating administration of epinephrine.
Given his documented allergies to both fluoroquinolones and macrolides, hemodynamic instability, and concern for poor gastrointestinal absorption of oral antimicrobials, he was subsequently treated with intravenous tigecycline with an initial, loading dose of 100 mg, followed by 50 mg twice daily for a total of 14 days of therapy. Intravenous doxycycline is not readily available in our institution. His oxygen requirements decreased and fever resolved following 48 hours of treatment with tigecycline. All other antimicrobials were discontinued once the diagnosis of Legionnaires' disease was made. There was no recurrence of infection after three months of follow-up; his repeat chest radiograph showed resolution of his bilateral air space opacities.
Later in discussion with the North Dakota Department of Health and Centers for Disease Control and Prevention, it was determined that there was an ongoing outbreak of Legionnaires’ disease associated with five cases over a 13-month period; all cases including our patient had stayed at the same hotel. Subsequent environmental testing of the hotel was negative, but this may have been impacted by a recent deep clean of the hotel’s ventilation system. |
pmc-6605694-1 | A 49-year-old male patient was admitted with complaints of cramping left lower abdominal pain, abdominal distension, and loose stools with the passage of blood and pus per rectum, associated with high-grade fever for 10 days. He had no previous history of altered bowel habits or chronic drug intake. On examination, he had an initial pulse rate of 110/min and blood pressure of 90/60 mm Hg. He was febrile and clinically pale at presentation; the abdominal examination revealed tenderness and guarding in the bilateral iliac fossae. On digital rectal examination, the rectum was filled with blood clots, the mucosa was friable, and a doubtful defect obscured by clots in the posterior wall of the rectum was felt, suggesting a perforation.
Baseline blood investigations showed anemia with a hemoglobin of 7 g/dl and elevated white blood cell count of 20,000/mm3. He was stabilized with intravenous fluids, blood products, and was started on broad-spectrum antibiotics. A contrast-enhanced computed tomography (CECT) abdomen was done, which showed diffuse pan-colonic edema (Figure ).
A 0.5 x 0.5 cm perforation was visualized at the rectosigmoid junction. A hyperdense collection was noted posterior to the perforation and anterior to the pre-sacral fascia, suggestive of a hematoma. A pseudoaneurysm was noted in a branch of the right internal iliac artery but there was no active blush.
With these findings suggesting a diagnosis of fulminant ulcerative colitis with perforation, and in view of the ongoing blood loss, unstable vitals, high-grade fever, the patient was taken up for emergency laparotomy. Intra-operatively, there was pus collection in the pelvis with an upper rectal perforation and the entire colon was edematous and congested. Subtotal proctocolectomy with Hartman’s procedure and end ileostomy were done. The colonic mucosa was found to be studded with yellowish granular and thickened areas (Figure ).
The rectal stump with a posterior wall perforation was sutured and the area was drained. In view of the pseudoaneurysm finding on CECT, a thorough search was done for any source of bleeding and no active bleeding was noted.
The patient was given multiple blood transfusions and he showed initial improvement in the early post-operative period. However, he developed high spiking fever and persistent pus and blood-stained discharge per rectum from postoperative day three. He was started on piperacillin-tazobactam based on the culture sensitivity report of the pus, which showed growth of Escherichia coli. The bleeding per rectum was attributed to lysis of the remaining hematoma.
However, the patient continued to have febrile spikes in spite of higher antibiotics. On postoperative day five, re-exploration of the abdomen was done to look for any remaining infective foci or pus collection. Intra-operatively a pus pocket was found tracking along the previous drain site to the parietal wall. It was drained and thorough lavage was given. Three drains were placed, one each, within the rectal stump, the parietal wall pus pocket, and in the abdominal cavity. There was no active bleeding source noted in the second laparotomy.
On postoperative day 11, the patient had profuse bleeding per rectally and the rectal stump drain showed fresh blood. A computed tomography (CT) angiogram was done, which revealed a pseudoaneurysm of size 3 x 1.2 cm, originating from the right internal pudendal branch of right internal iliac artery adjacent to the pyriformis muscle on the right side (Figure ).
There was diffuse iso to hyperdense foci surrounding the aneurysm, suggesting a haemorrhagic clot. The aneurysm was embolised under vision (Figure ).
Post-procedure, his rectal bleed reduced and gradually became nil over the next four days. His blood parameters improved and hemoglobin continued to remain stable.
Post-operative histopathological examination of the colectomy specimen showed a picture of pseudomembranous colitis. Gross findings of mucosal exudates with unremarkable submucosa and microscopically, the presence of mucosal ulceration covered with sheets of neutrophils were seen (Figures -).
The patient was discharged on postoperative day 16 following the second surgery. The patient underwent Hartman reversal with ileorectal anastomosis after three months. |
pmc-6605960-1 | A 35-year-old gravida three and para one female was referred to the fetal medicine department in view of an intracranial mass detected on routine growth scan at 27 weeks. Anomaly scan at 19 weeks was normal. The mother gave no history of fever with rash, bleeding disorders, radiation exposure, drug intake or substance abuse. She was not hypertensive or diabetic and was not on any medication apart from iron and calcium supplementation. There was no personal or family history of malignancy in either partner.
Ultrasound was done using Voluson E-Radiance (GE Healthcare, Milwaukee, WI) equipped with a convex 4-8 MHz abdominal probe, and 6-12 MHz endovaginal probe. Two-dimensional ultrasound (Figure -) showed an intracranial mass in the fetal right frontal lobe measuring 4.5 x 3.8 x 3 cm with echogenicity similar to the adjacent normal brain. The mass was crossing the midline. A detailed neurosonogram was done. There was no associated ventriculomegaly. The posterior fossa structures were normal. Transvaginal ultrasound was done to confirm the findings and to determine the spread of the lesion. On color Doppler, feeding vessels were identifiable (Figure D). There was no other structural abnormality. Fetal echocardiography was normal. Fetal growth was within the normal range for gestation. There was polyhydramnios (amniotic fluid volume above the 95th centile). Diagnosis of an isolated intracranial mass was made.
Fetal MRI was performed on a 3 Tesla mode, Philips 3T scanner. T2-weighted axial, coronal and sagittal images were acquired, along the fetal planes using half Fourier acquired single shot turbo spin echo (HASTE) sequences for fetal central nervous system (CNS). Fetal MRI showed a focal intra-axial mass lesion in the right frontal location. Posterosuperiorly the extent was up to right basal ganglia and thalamic region with indentation over the third ventricle. The lesion was not seen separate from the crus cerebri. There was compression over the septum pellucidum, which was displaced to the left by 2-3 mm. The lesion measured 4.8 cm x 4.0 cm x 2.8 cm in antero-posterior, transverse, and craniocaudal dimension, respectively. It was hypointense on T2W imaging as compared to white matter and showed hypointense to isointense signal on T1W images. The fetal ventricular system showed extrinsic compression, mainly over the right lateral ventricle and the third ventricle. The fourth ventricle was not dilated. The posterior fossa structures were normal. No definite signs of proptosis or intraorbital extension were seen (Figure ). A provisional diagnosis of a glioma, possibly of hypothalamic/thalamic origin was made.
A joint consultation with the neonatologist, pediatric neurosurgeon, and pediatric neurologist was done. The couple was counseled regarding the expected poor prognosis of antenatally diagnosed intracranial tumors in view of its imaging findings. The timing of delivery and the need for close follow-up was also discussed. Follow-up ultrasound one week later at 28 weeks showed no fetal cardiac activity. Induction of labor was done and a stillborn male fetus weighing 1300 grams was delivered vaginally. The couple consented for fetal autopsy. The external examination was normal. There were no dysmorphic features. On autopsy, there was a large, homogenous, right-sided frontal tumor extending to the base of the skull. There were no necrotic areas and no hemorrhages (Figure ). The cerebellum was normal. Histopathology gave the unexpected diagnosis of medulloepithelioma which is a rare tumor of embryonal origin (Figure ). The histopathology showed a tumor, composed of nests, tubules, and trabecular arrangement of malignant cells, lined by pseudostratified epithelia, resembling primitive neural tube, sheets of poorly differentiated cells with hyperchromatic nuclei. Immunohistochemistry was positive for synaptophysin, and vimentin suggestive of medulloepithelioma. |
pmc-6605962-1 | A 48-year-old Caucasian male, with a past medical history of autism with speech impairments and epilepsy, presented to the emergency room with a fever of 100.6 degrees Fahrenheit (F) and an unintentional weight loss of 30 pounds (lbs). A septic workup was initiated, which included a chest X-ray displaying a new right lower lung opacity. Blood and urine cultures were negative and the patient was unable to give an adequate respiratory culture sample. Given his history of recently being hospitalized prior to admission, hospital-acquired pneumonia became the working diagnosis. Piperacillin-tazobactam (Zosyn®) was initiated before morning rounds.
Approximately 24 hours later, the patient was found to have a diffuse maculopapular erythematous rash along the flanks and abdomen, extending to the groin and lower medial thighs as well as his back (Figures -). The patient had mild pruritus, but due to his developmental delays, had difficulty communicating symptoms and brought no attention to it. The patient was afebrile, with absent eosinophilia and a normal platelet count. Zosyn was immediately discontinued and replaced with aztreonam and metronidazole. Methylprednisolone and diphenhydramine, an H1-antagonist, were given.
Daily improvement of the rash and pruritus was observed over the course of the week. Workup for fevers and unexplained weight loss revealed moderately differentiated adenocarcinoma with extensive necrosis, likely cholangiocarcinoma. The patient was discharged with follow-up with oncology. |
pmc-6605964-1 | A 42-year-old African-American man, with a past medical history of pulmonary sarcoidosis and ARCA for which he was on conservative medical management, presented to the emergency department (ED) due to an episode of exertional presyncope which was relieved by rest. The patient denied any other associated symptom. Complete physical examination was unremarkable except for tachycardia with a heart rate of 106 beats per minute. Electrocardiogram (ECG) showed sinus tachycardia, left atrial enlargement and incomplete right bundle branch block without any dynamic ischemic changes. Cardiac enzymes including Troponin-I and Creatine Kinase-Muscle/Brain (CPK-MB) were negative. Trans-thoracic echocardiogram (TTE) (Figure ) and trans-esophageal echocardiogram (TEE) (Figure ) identified a 5.0 cm freely mobile left atrial echogenic mass suggestive of a left atrial myxoma attached to the interatrial septum and slightly going into the mitral plane. The new left atrial findings were not evident on a TTE that was done seven months earlier when the patient presented to the ED with an atypical chest pain.
His ARCA was diagnosed by coronary computed tomography angiography (CCTA) (Figure ) when he presented to the ED around 15 months earlier for recurrent atypical chest pain and exertional dyspnea. At that time a TTE was done and there were no signs of any cardiac tumor. His ARCA was found to have malignant course arising from the left coronary sinus superior to the left main coronary artery and coursing between the aorta and the pulmonary artery with diffusely narrowed proximal right coronary artery. A cardiac nuclear stress test was inconclusive. His symptoms were thought to be related to reactive airway disease and the decision was made for conservative medical management by avoidance of vigorous exercising.
The patient was offered a surgical excision of the left atrial mass. At this point, the patient preferred to also have his ARCA corrected during the same surgical session since he was aware of the risk of sudden cardiac death associated with this anomaly. He underwent surgical excision of the left atrial mass with repair of interatrial septum with fabric patch and transposition of the ARCA with re-implantation. Post-operatively the patient developed a complete heart block and he became ventricular pacemaker dependent. Otherwise, the patient tolerated the procedure well and was transferred to Cardio-Vascular Intensive Care Unit (CVICU) in a stable condition. Histopathological analysis of the excised mass confirmed the diagnosis of myxoma. A few days later, the patient was discharged in a good condition, remaining asymptomatic on a regular cardiology follow up for three years post-procedure. |
pmc-6605967-1 | A 41-year-old female presented with complaints of right arm claudication, weakness, and pain associated with serous drainage from a previous incision site to the right anterior chest. At age 16, this patient was involved in a motor vehicle accident, which resulted in a right innominate artery and brachiocephalic vein avulsion. The two vessels were immediately ligated and oversewn. The perfusion to her right arm was supplied by cerebral collateral circulation down the right vertebral to the right subclavian artery.
The patient was stable until the age of 35 years when symptoms of ischemia set in and she developed right arm pain. This led to her readjusting her right arm frequently and an inability to sleep secondary to ischemic pain. It required surgical intervention done at the University of Chicago with the placement of a right aortic to axillary bypass graft.
Six years passed before the patient began developing her recent symptoms of right arm claudication and weakness. Upon the patient’s recent presentation, a computed tomography (CT) angiogram of this graft showed occlusion of the aortic-axillary bypass graft due to thrombosis. Interventional radiology decided to thrombolyse the clot and re-canalize the graft. However, the patient developed an infection of the graft with serous discharge, bacteremia, and persistent symptoms of right upper extremity arterial occlusion (Figure ).
The persistence of these symptoms and the infection of the graft led to the decision to perform a two-staged procedure: 1) removal of the infected/occluded aorto-subclavian bypass graft with the exception of the aortic stump; this was performed without sternotomy. The patient was treated with antibiotics and once the infection was cleared, the next stage involved redo sternotomy with 2) removal of the old aorto-axillary graft stump and creation of a new aorta to right subclavian artery stump with a direct path using an open harvest of a piece of the left greater saphenous vein.
Procedure
The previous incision over the right anterior chest was reopened. The sternum was not opened at this time. The graft was controlled and the subclavian artery was exposed. A large number of adhesions was noted, requiring extreme care to liberate and identify the right subclavian artery and vein. The patient was heparinized using 8000 units. The left greater saphenous vein was harvested open. Once the subclavian artery was isolated, all graft material was removed up to the incorporated graft material just medial to the aorta. A remnant of the graft was left attached to the lateral position of the aorta, as it appeared to be incorporated into the surrounding tissue. The laterally surrounding tissue was noted to have induration but no gross pus present. However, once the lateral graft was incised, pus spilled out. All material was sent for culture. Proximal and distal control of the subclavian artery was obtained and the defect of the arterial wall was closed using a saphenous venous patch and 6-0 Prolene sutures. The distal flow was noted following repair and clamp removal. Hemostasis was obtained. Due to active infection, it was deemed unsafe to remove the stump and re-implant another graft. The incision was left open and a wound vacuum was placed medially. The incision over the axillary artery was loosely closed and a drain was placed.
Post-operative care and follow-up procedure
The drain was removed at three days post-procedure. Home wound vacuum and intravenous antibiotics were initially started with vancomycin for two weeks followed by Bactrim DS twice daily for two weeks. The infected graft and pus were tested for aerobic, anaerobic, and fungal cultures. The patient did not show signs of infection after the antibiotics (Table ).
On follow-up after the first staged procedure, the patient denied fever, chills, weight loss, or any other constitutional symptoms. There was excellent granulation tissue, and the incision was approximately 50% closed with no surrounding erythema, odor, drainage, or fluctuance. The incision subsequently healed and the wound vacuum was removed.
Two months after the initial procedure to remove the graft, the patient underwent redo sternotomy to remove the remainder of the old graft. During this same procedure, a right subclavian to aorta graft was placed using an 8 mm Gore-Tex graft (W. L. Gore & Associates, Inc., Arizona, US). This procedure resulted in total relief of the symptoms. The patient continues to do well. |
pmc-6605969-1 | A 71-year-old man presented to the emergency department with nephrolithiasis and was noted to have abnormal liver function tests. An abdominal CT scan (Figure ) showed a calculus in the right ureteropelvic junction and an ill-defined mass in the head of the pancreas compressing the common bile duct.
The patient then underwent an endoscopic retrograde cholangiopancreatography (ERCP) with stent placement, along with endoscopic ultrasound (EUS)-guided fine needle aspiration (FNA) of the pancreatic head. The biopsy demonstrated a pancreatic adenocarcinoma and with stage IB (T2N0M0).
The patient was taken for a Whipple surgery; however, the procedure was aborted after the discovery of liver cirrhosis on laparoscopic diagnostic liver biopsy. The patient's case was discussed in the hepatobiliary tumor board and the consensus was to proceed with systemic chemotherapy followed by chemoradiation. Induction chemotherapy using the FOLFIRINOX regimen was then initiated as part of the treatment plan.
After starting chemotherapy with FOLFIRINOX, the patient presented with the onset of visual changes, occurring immediately following the infusion of oxaliplatin during the first cycle and prior to the complete administration of the other components of FOLFIRINOX with the second cycle. He reported a complete loss of vision in the right eye followed by tunnel vision that fully resolved within two days after the first treatment and five days after the second treatment. The patient did not report any visual changes in the left eye. A thorough ophthalmologic examination was performed, and no obvious retinal or optic nerve damage was noted. However, due to these concerning ocular manifestations, the decision was made to stop treatment with FOLFIRINOX and to switch to gemcitabine plus nab-paclitaxel. Subsequently, the patient recovered and no further visual abnormalities were reported. |
pmc-6605971-1 | We present the case of a 65-year-old male with advanced PD who presented after accidental dislodgement of the jejunostomy tube (J-tube) from the PEG site a day prior to admission. Two months prior, the patient had undergone successful PEG tube placement (Figure ) and the introduction of a trans-gastric jejunostomy tube extension (Figure ) for direct jejunal administration of LCIG. The PEG-J system insertion was complicated by peri-stomal cellulitis requiring intravenous antibiotics one week after insertion. Prior to the dislodgement of the J extension, the medication delivery system was completely functional. On presentation, the patient was hemodynamically stable. Abdominal examination revealed the PEG tube in place, however, the J-tube was dislodged completely via the Y-connector externally as witnessed by the patient.
Endoscopic evaluation immediately ensued, revealing complete burial of the internal PEG bumper in the gastric mucosa (Figure , ). Due to the typical presentation of our patient and the eventual necessity to remove the internal bumper, we did not utilize the use of endoscopic ultrasound in our patient. Attempts were made to extract the internal bumper via the skin by pulling on the tube externally. However, efforts were unsuccessful and the patient was referred to surgery. Successful surgical extraction of the internal bumper was performed by careful dissection of the open abdominal wall wound and dissecting scar tissue neighboring the internal bumper.
On the following day, and due to the necessity of resuming LCIG, a new PEG-J was inserted endoscopically through the existing open wound in the anterior abdominal wall (Figure , ). Suitable resources were given to the patient and his caregiver, with instructions pertaining to adequate PEG-J care and a home nurse was scheduled to visit the patient to provide continuous optimal care. LCIG administration was continued and the patient was seen on follow-up after four weeks and at six months, with sustained normal functioning of the new PEG-J system. |
pmc-6606433-1 | A full-term 1-day-old male neonate with a birth weight of 3,420 g was admitted to our department with a left sided cervical mass. The patient had a history of fetal tachycardia and maternal fever during the pregnancy. However, the cervical lesion was not detected on antenatal ultrasounds.
On physical examination, the patient had a painless mobile mass on the left side of the neck at the level of the thyroid gland, 3 to 4 cm in diameter (
).
Otherwise no abnormality was detected.
On magnetic resonance imaging (MRI) a large mass was seen in the soft tissue of the neck extending from the left side to the midline. The heterogeneous enhancing lobulated tumor slightly dislocated the hypopharynx, larynx, and trachea, causing mild tracheal dislocation and compression. The major vessels of the neck were also mildly dislocated. The morphology of the mass on MRI was not specific for any type of tumor. The thyroid gland was of normal size, shape, and structure. No pathologic lymph nodes or signs of invasion of surrounding tissues were detected (
).
On the 10th day of life, the tumor underwent complete removal via Kocher's incision. The excision of the tumor was straightforward; the tumor was excised within its capsule without any injuries of the cervical structures (
).
The perioperative period was uneventful. No recurrence was detected during the 6-month follow-up. |
pmc-6606678-1 | A 45-year-old male patient visited the emergency room in XXX University Hospital with right facial spasms, tingling and twisting of the right arm, paresthesia, and dysarthria. The patient had no medical history or underlying disease, with the exception of being hospitalized for pneumonia 1 month previously. The patient consumed alcohol occasionally and had smoked 1.5 packs of cigarettes per day for 25 years. When admitted to the ER, the patient was conscious with a blood pressure of 150/88 mmHg, heart rate of 77 beats/min, respiratory rate of 20 breaths/min, and body temperature of 37.0 °C. According to the laboratory tests on a peripheral blood sample, the white blood cell count was 13,900/mm3 (86% neutrophil), hemoglobin concentration was 13.5 g/dl, and platelet count was 248,000/mm3. Biochemical tests showed a blood urea nitrogen concentration of 11 mg/dl, creatinine concentration of 0.6 mg/dl, C-reactive protein concentration of 0.63 mg/dl, blood glucose of 140 mg/dl, and HbA1c of 5.5%. No bacterial growth was observed in cerebrospinal fluid culture, and electroencephalography (EEG) indicated normal patterns. On the day he was admitted to the ER (day 1), brain CT scan revealed three low-density oval lesions (13 mm, 9 mm, and 15 mm) in the right mid-frontal region and in the left and right high-frontal subcortical white matter. According to MRI on the second day (day 2), the oval lesions with diffusion restriction in the same areas appeared swollen, and blood volume and flow in the perilesional areas were decreased. Empirical antibiotic treatment was initiated as metronidazole 500 mg every 8 h, cefotaxime 2 g every 12 h, and dexamethasone 5 mg every 6 h administered through intravenous infusion.
Following a consultation with a representative from the Department of Infectious Disease the following day, cefotaxime 2 g was replaced with ceftriaxone 2 g, dexamethasone 5 mg was continued, and metronidazole 500 mg was discontinued. On day 12 of hospitalization, a follow-up MRI scan showed that the size of the lesions had not changed, and the boundaries of the lesions were more defined with diminished edema (Fig. ). The images from a follow-up CT scan on day 20 confirmed a clear boundary of peripheral edema, and the patient was transferred to the Department of Neurosurgery for surgical drainage. On the following day (day 21), navigation-guided abscess aspiration and drainage was performed in the right mid-frontal lobe under general anesthesia. Abscess fluid was collected during the operation and then incubated in aerobic and anaerobic conditions, followed by Gram staining. After surgery, the patient was transferred to the Department of Neurology, and ceftriaxone 2 g every 12 h and metronidazole 500 mg every 8 h were administered through intravenous infusion. The patient’s symptoms continued to worsen after the operation, even though ceftriaxone 2 g every 12 h and metronidazole 500 mg every 8 h were continued and vancomycin 1 g every 8 h was added. On day 34, the patient was transferred to the Department of Infectious Diseases to continue with this aggressive antibiotic treatment (Table ). The patient’s symptoms improved very slowly. It was suspected, therefore, that there was another source of infection, and an intraoral lesion was detected.
The patient was sent to the Department of Oral and Maxillofacial Surgery in XXX University Hospital on day 41 for consultation. A panoramic X-ray revealed radiolucency around the right maxillary first molar, right maxillary second molar, left maxillary first premolar, and left maxillary third molar. The patient was diagnosed with chronic periodontitis and periapical abscesses (Fig. ). On day 44, the right maxillary first molar, maxillary second molar, left maxillary first premolar, and left maxillary third molar were extracted under local anesthesia in the Department of Oral and Maxillofacial Surgery (Fig. ). Abscess fluid from the tooth extraction socket was incubated in aerobic and anaerobic conditions, followed by Gram staining; Streptococcus anginosus was identified. Antibiotic treatment was changed to IV infusion of amoxicillin/clavulanic acid 2.4 g every 8 h. The patient’s symptoms started to improve on day 47 (Table ). On day 58, brain MRI images confirmed that the three brain abscesses in the frontal lobe were reduced in size, and perilesional edema was confirmed as the interval resolving state (Fig. , bottom). The patient was prescribed amoxicillin/clavulanic acid 625 mg every 8 h by oral administration and discharged from the hospital on day 61. |
pmc-6606682-1 | A 45-year-old man was diagnosed with AMN using colonoscopy and computed tomography (CT). He had a history of perforated barium appendicitis 3 years ago. Physical examination revealed no specific abdominal findings. The results of routine blood examination and serum tumor markers (carcinoembryonic antigen and carbohydrate antigen 19–9) were within normal limits. Colonoscopy revealed appendiceal intussusception to the cecum, caused by the mucocele of the appendix. Abdominal CT revealed a cystic lesion, measuring 10 × 3 cm, in the appendix and barium around the cecum, appendix, and sigmoid colon (Fig. a). No regional lymph node enlargement or metastasis was observed. At the time of perforation of the appendix 3 years ago, there was no finding of AMN, and barium leaked from the tip of the appendix (Fig. b).
We performed ureteral stent insertion, laparoscopic ileocecal resection. The ureteral stent made it easier to identify the ureter. Laparoscopic exploration revealed severe adhesions between the greater omentum and small intestines, appendix, and sigmoid colon including some barium cast. Preoperative CT revealed that barium remained around the ileocecal region. There was no barium nodule in the anastomotic region, and careful anastomosis was performed extracorporeally.
The total operative time was 363 min, and the blood loss was 50 mL. The resected specimen was pathologically diagnosed as a low-grade AMN with myxoglobulosis. The appendiceal lumen was full of frog egg-like 1–4 mm white globules (Fig. a). The white globules consisted of thin laminations of mucin surrounding a granulation tissue (Fig. b). The appendiceal lumen had a normal appendiceal epithelium and low-grade adenoma-produced mucus (Fig. c). The edematous change of the appendiceal tip and occlusion of the orifice of the appendix were thought to be caused by the perforated barium appendicitis. The appendix was surrounded by granulated and fibrous tissue with barium on the side of the appendiceal serosa (Fig. d), but no barium was found in the appendiceal lumen or white globules. Colonoscopy performed 1 year after surgery and showed no evidence of anastomotic stricture. |
pmc-6606722-1 | An 8-week-old female (39th week of pregnancy; birth weight: 2600 g) infant was admitted to our emergency department with subfebrile temperatures up to 37.7°C, partially bilious vomiting and increasing listlessness, with refusal to eat for the previous 24 h. Her last defecation (non-bloody) was noticed 3 days prior to admission. Except for abdominal distension and hypoactive bowel sounds, no other abnormal general examination findings were apparent. Laboratory parameters showed an elevated CRP of 4 mg/dl. The ultrasound presented an intussusception in the right lower abdomen. Hydrostatic reduction with sodium chloride 0.9% was performed under low sedation using midazolam (0.1 mg/kg body weight). The infant was rehydrated overnight, and vomiting was suspended. Another ultrasound showed significant dilation of the bowel loops in the right lower abdomen, free fluid and typical signs of intussusception (). Two more reduction attempts were made without success; thus, the infant was taken for laparotomy. During surgery an ileoileal intussusception 25 cm from the ileocolic junction was observed including ischaemic changes. On reduction, a typical MD with a size of 1 cm was identified more proximal to the ileocolic valve acting as a lead point lesion for intussusception (). A 10-cm necrotic ileum segment with the MD was resected with primary anastomosis. The infant received antibiotics (ceforuxim/metronidazole) for 5 days postoperatively. Histological examination revealed the presence of an MD containing ectopic pancreatic tissue. The ileum showed mucosal necrosis, ulceration and infarction accompanied by a fibropurulent peritonitis. |
pmc-6606722-2 | A 3-year-old boy presented with a 3-day history of painless rectal bleeding (dark red) with no other symptoms. His past medical history was unremarkable. The initial examination showed a stable patient with a normochromic, microcytic anemia with a hemoglobin level of 7.1 g/dl. Biochemical assessments of liver and renal functions were normal. Digital rectal examination was unremarkable. Gastroduodenoscopy and colonoscopy showed no bleeding source. After i.v. treatment with omeprazole (20 mg), blood samples presented no further decrease in hemoglobin. The patient was always haemodynamically stable. The next day, we performed a diagnostic laparoscopy. Intraoperatively a 2 × 3-cm MD was found, approximately 25 cm proximal to the ileocaecal valve. An ileal segmental resection with 5.0 cm of small bowel including the MD was performed through a limited subumbilical laparotomy. The pathology report described an MD with ectopic gastric mucosa and an inflammatory reaction. Postoperatively, the patient first received imipenem i.v. according to the microbiological results. Six days after surgery the patient had recovered without incident and was discharged from the hospital. |
pmc-6606722-3 | A 3-year-old previously healthy boy presented with acute onset of abdominal pain and vomiting (not bilious) for the previous 12 h. His last defecation the previous day was normal. On physical examination, the patient was somnolent and tachycardiac; all other vital signs were stable. He had abdominal distension without ubiquitous tenderness. Bowel sounds were decreased, and a digital rectal examination showed bloody marks on the examining finger. Routine laboratory showed elevated inflammation parameters (CRP: 4.38 mg/dl) and a hyponatraemic acidosis. Abdominal ultrasound revealed free fluid in the right lower abdomen and dilatated intestinal loops with a 2.6 cm diameter and aperistalsis. The patient was taken to the operating room and underwent laparotomy with the finding of a midgut volvulus caused by an MD with the omphalomesenteric duct 30 cm proximal to the ileocaecal valve (). A total of 50 cm of gangrenous bowel was resected with primary anastomosis. Additionally, an appendectomy was performed. Histology revealed necrotic small bowel with a broad-based MD including mucus-producing goblet cells. The patient's postoperative course was entirely unremarkable. He received cefuroxim/metronidazole as the antibiotics and was discharged on the eighth hospital day with normal defecation and standard blood values. |
pmc-6606769-1 | A 62 year-old woman was admitted after 4 months history of intermittent frontal headache, nausea, and gait and balance disturbances. She had a 3 year history of IgM-RF and anti-CCP positive RA, with a previously episode of pleuritis. Within the last year, she had been treated with Leflunomide, Infliximab, and was currently treated with Methotrexate and Salazopyrine entabs. Neurological examination was normal, except for a mild gait ataxia and her RA was well-controlled with no symptoms of active synovitis at time of admission.
Due to chronic headache a brain MRI was performed. This showed patchy interhemispheric pachy- and leptomenigeal enhancement adjacent to the parietal- and occipital lobes (). Blood tests revealed signs of inflammation with high levels of IgM RF (56 IU/mL), anti-CCP (>1,600 U/mL), Interleukin-2 receptor (ILR-2–1,065 kU/L) (), c-reactive protein (43 mg/L), and erythrocyte sedimentation rate (106 mm). Remaining systemic antibody examinations were negative (anti-DNA antibody, anti-nuclear antibody (ANA) IgG, anti-neutropil cytoplasmatic antibody (ANCA) IgG, Anti-Ro (SSA)/La (SSB), anti-cardiolipin antibody, phospholipid antibody, and lupus anticoagulant). Immunoglobulin A, G, and M levels were normal.
Cerebrospinal Fluid (CSF) analysis revealed a mononuclear pleocytosis (170 E6/L) and elevated protein level (1.16 g/L). Due to the pleocytosis, intravenous ceftriaxone, and aciclovir were administered, to cover for bacterial meningitis and Herpes Simplex Virus (HSV) encephalitis. Subsequent CSF cultures revealed no growth of bacteria, no Borrelia antibodies, and viral/bacterial PCR (E. coli, hemophilus influenzae, Listeria monocytogenes, Neisseria meningitidis, hemolytic streptococcus, streptococcus pneumoniae, cytomegalovirus, enterovirus, herpes simplex virus, varicella zoster, Cryptococcus, and micromiome 16S/18S), and flowcytometry, and cytological analysis for malignancy were negative. Therefore, antiviral- and antibiotic- treatment was terminated.
The following days the patient displayed sporadic confusion, delusions, and fever (38.5°C). Subsequent tests, including HIV, syphilis, and tuberculosis were negative. Re-examination of CSF showed continuous mononuclear pleocytosis (130 E6/L), high IgG index (1.45) and presence of oligoclonal bands, suggestive of inflammation. Repeated cultures for bacteria were negative and cytological analysis showed an inflammatory pattern with an elevated number of B-lymphocytes (7.8 %) and plasma cells (1.8%, ).
To investigate possible systemic inflammation or malignancy whole-body FDG-PET CT was performed. This showed hypermetabolism of the cerebral cortex, adjacent to the meningeal enhancement found on MRI, and a right medial lobe infiltrate of the lung. CT of thorax and abdomen confirmed an infiltrate, slight pleural effusion, and pleural thickening. Endobronchial ultrasound with biopsy was performed revealing no malignancy or infection.
On suspicion of RM, we performed analysis on undiluted CSF showing moderately positive IgM RF (92.7 IU/mL) and strongly positive anti-CCP (19,600 IU/mL) and CXCL-13 (>500 ng/L, ).
Subsequent, biopsy of meninges () confirmed chronic inflammation dominated by CD138 positive plasma cells and a limited number of CD3 positive T-lymphocytes with limited infiltration into the underlying gray matter (). Additionally, granulomatous inflammation with dense infiltration of CD68+ histiocytes and the presence of rheumatoid nodules were found (). Microbial stains, PCR, and cultures of biopsy tissue for fungi, parasites, acid-fast bacilli, HSV 1, HSV 2, CMV, SV40, M. tuberculosis, and toxoplasmosis were negative.
Based on the (i) MRI findings with patchy meningeal enhancement, (ii) high titer of IgM-RF and anti-CCP in CSF and (iii) histopathological chronic inflammation of meninges with plasma cells and rheumatic nodules, the diagnosis RM was established. Concurrently, the patient displayed extra articular manifestations of RA in her lungs.
Intravenous high dose methylprednisolone (750 + 1,000 + 1,000 mg on three consecutive days) followed by oral tapering was administered in addition to current treatment with methotrexate. Within days symptoms improved, but did not completely resolve. The following weeks, the patient received Rituximab (1,000 mg intravenous, repeated after 14 days). CSF levels of IgM RF, anti-CCP, and CXCL-13 decreased accordingly to the patient reporting significant treatment response (). A 6 month follow-up MRI showed regression of meningeal enhancement () and follow-up FDG-PET CT showed almost complete regression of pulmonary findings. Neurological examination at 6 month follow up confirmed resolution of clinical symptoms. |
pmc-6606923-1 | Sixty years old male, farmer from Gadarif city, Eastern Sudan, who had a 4 years past history of intestinal obstruction due to sigmoid volvulus for which he underwent laparotomy and detwesting sigmoidopexy followed 6 weeks later by elective sigmoidectomy. He had no significant history till 2 months ago when he presented to the surgical outpatient of Gadarif Teaching Hospital, which is the main community hospital in the state, with a history of abdominal distension, constipation and vomiting for the last 3 days and severe abdominal pain for one day. He also complained of recurrent constipation which he didn’t bother to seek medical advice and used to have over the counter or traditional medications. He was previously healthy with no significant family, drug or social history. On examination he looks ill not pale, jaundiced or febrile. His pulse rate was 104 beat per minute, blood pressure was 110/70, respiratory rate was 22 cycle per minute and his temperature was 38.8 CO. His abdomen was grossly distended with full flanks, midline scar, visible dilated bowl loop and peristalsis. There was tenderness all over the abdomen and no bowl sounds were detected. Digital rectal examination revealed a 3rd degree pile and empty rectum. His investigations showed an Hb of 13 g/dl, WBCs of 14 × 109 per liter and PLTs count of 305 × 109 per liter. His renal profile and serum electrolytes were within normal range. Blood glucose was 193 mg/dl. Urine examination was unremarkable. Abdominal X-ray () showed a typically dilated omega shape colon. The diagnosis of a strangulated bowel obstruction was considered, adhesive type was the top differential. However recurrent or other site volvulus was a remote possibility despite the X-ray findings.
After optimization of his general condition with an NG tube suction and intravenous fluids resuscitation, he went for a laparotomy at the emergency department OR. This was performed by the specialist and residents on duty supervised by the consultant in our team. Under general anesthesia with muscle relaxation a generous midline incision revealed an intact, grossly dilated and apparently gangrenous large bowel that turned out to be the transverse colon (). There was a small amount of inflammatory exudate. The twisted gangrenous colon was carefully delivered (). Because of the high risk situation the decision was to do a Hartmann’s resection of transverse colon. A clearly viable segment was left from hepatic flexure and the healthy upper rectum which was anchored as stump to anterior abdominal wall with a nylon stitches. Abdomen closed in layers and the patient recovered smoothly. The resected colonic segment was 109 cm in length and 22 cm in its maximum diameter (). The patient did well postoperatively with close follow up by the nursing staff and doctors. He stayed for couple of days in the HDU and was discharged home on day 12 after healing of a minor surgical site infection. Six weeks later a colorectal anastomosis was done by our colorectal surgeon and he was discharged on the 7th post-operative day in a good condition. He presented to the refer clinic one month later completely satisfied complaining only of an unusual soft stool and regained his full normal activity. He is planned for regular clinical follow-up which can be augmented with CT or colonoscopy. |
pmc-6606978-1 | A 4-year-old boy was referred to our hospital because of recurrent KH. He was born at full term and had a birth weight of 2940 g. At the age of 2 years and 7 months, the patient developed KH for the first time. When he was 4 years old, he suffered from recurrent hypoglycemia approximately every 2 months. The patient's hypoglycemic episodes mostly occurred in the morning within 12 hours from his last meal, even though he ate dinner as usual. In particular, the patient became hypoglycemic during infections. At the age of 4 years and 11 months, the patient was started on a bedtime uncooked cornstarch supplement to prevent nocturnal hypoglycemia. Since then, he has experienced no hypoglycemic episodes.
At the age of 5 years and 4 months, the patient's height was 113.0 cm (+0.9 SD) and his weight was 20.4 kg (+0.7 SD). Fasting for 14.5 hours induced hypoglycemia (Table ). Endocrinologic data, including thyroid-stimulating hormone, growth hormone, adrenocorticotropic hormone, free triiodothyronine, free thyroxine, insulin, cortisol, epinephrine, norepinephrine, and dopamine, showed no abnormality. Urinary organic acid analysis and blood acylcarnitine analysis showed nonspecific profiles. During our investigations, the patient exhibited no signs of hepatomegaly, and the concentrations of transaminases in his serum were normal. The patient is currently 9 years old, and his physical and mental development is normal. Bedtime supplementation with uncooked cornstarch was stopped when the patient was aged 9 years and 1 month. The patient's elder sister has experienced no hypoglycemic episodes, and his 6-year-old brother has experienced KH only once. As far as we examined, there are no relatives who had experienced recurrent hypoglycemia. |
pmc-6606983-1 | A 12-month-old Japanese boy born to nonconsanguineous parents was a second child with a healthy elder sister. He had grown and developed normally. No abnormalities were detected in a newborn screenings using tandem mass spectrometry. He presented with a fever, upper respiratory symptoms, and loss of oral intake. After 7 days of febrile illness, he was admitted to the hospital because of polypnea and cyanosis. Influenza A was detected in a rapid test. Laboratory investigation (Supporting Information Table ) revealed mild hyperammonemia (173 μg/dL), elevated aspartate aminotransferase (AST; 461 IU/L) and alanine aminotransferase (ALT; 142 IU/L) levels and severe metabolic acidosis (pH 6.985, pCO2 13.8 mmHg, HCO3 3.2 mmol/L, BE −26.5 mmol/L; and anion gap, 30.5 mmol/L). The creatine kinase, lactic acid, and pyruvic acid levels were normal. Hypoglycemia was not detected (9.39 mmol/L) before glucose infusion was started. While the level of FFA was elevated (1.31 mmol/L), that of acetoacetic acid did not increase (0.04 mmol/L) and that of 3-hydroxybutyrate was only mildly elevated (0.154 mmol/L).
Physical examination revealed marked hepatomegaly. Abdominal computed tomography (CT) revealed severe fatty liver and hepatomegaly without splenomegaly (Figure ).
After admission, the patient had a convulsion, which was immediately treated with diazepam (1 mg/kg). However, he did not regain consciousness and had no reaction to pain. Intravenous infusion including glucose was initiated after taking critical blood samples. Peramivir was also administered against the influenza A infection. Administration of carnitine and vitamin cocktail therapy including vitamin B1, B2, B12, C, and biotin was started, considering the possibility of mitochondrial dysfunction. At the second day of admission, his consciousness did not improve, and the severe metabolic acidosis lasted even after correction with sodium bicarbonate. Continuous electroencephalography monitoring revealed no high-amplitude slow wave. On the third day, his symptoms improved dramatically. The patient reacted to stimulation and could open his eyes. He could sit by himself on day 4, and his consciousness became completely normal on day 5. The fatty liver and hepatomegaly were improved somewhat on day 11 (Figure ). A brain MRI performed on day 10 revealed no abnormality. The patient was discharged without any complication on day 14.
After discharge, he was managed with a normal diet and avoidance of long fasting periods. Around 3 months after the onset, he had enteritis. He overcame it without metabolic crisis with intravenous glucose administration at the local hospital. However, his liver was enlarged and his AST and ALT levels spiked again (Figure ). In 7 months after the onset, his AST and ALT levels finally normalized. In 13 months after the onset, the fatty liver had mostly disappeared, but mild hepatomegaly was still detected on CT. After the first episode of metabolic crisis, the patient experienced no further episodes of metabolic crisis even with minor illnesses. At the age of 6 years, he had grown and developed normally. |
pmc-6606985-1 | The patient, a now 3-year-old girl, is the fifth child of healthy, non-consanguineous parents. She was born full-term, after an uncomplicated pregnancy. Apgar scores were 10 and 10 after 1 and 5 minutes. Her birth weight was 3.1 kg and she had no dysmorphic features. Because of her parents' religious convictions, she was not vaccinated and is home schooled.
Growth and development were normal during the first few months of her life. At the age of 10 months, she was admitted to a local hospital because of vomiting with traces of blood. Antacid treatment was started for a suspected Mallory Weiss syndrome. In contrast to her older siblings, she still was fully breastfed at that age as she rejected introduction of solid foods. Despite logopedic therapy, feeding problems persisted and she showed poor weight gain (−2 SD). Her speech development progressed normal, but she had a delay in gross motor development.
At 17 months of age, she was readmitted with reduced consciousness and circulatory insufficiency during gastroenteritis. She had a severe metabolic acidosis: pH 6.87 (normal range: 7.37-7.45), base excess −30 mmol/L (normal range: −3.0 to 3.0 mmol/L), pCO2 24.6 mm Hg, hypoglycemia 2.0 mmol/L (normal range: 3.6-5.6 mmol/L), hyperammonemia 200 μmol/L (normal range: 0-35 μmol/L), a mildly elevated lactate 3.0 mmol/L (normal range: 0-2.2 mmol/L), and ketonuria.
She needed respiratory and circulatory support, and was intubated. During intubation, she developed ventricular fibrillation requiring cardiopulmonary resuscitation. She was transferred to our center and was weaned from ventilator support after correction of her acidosis, and replacement of fluid and electrolyte deficits. Metabolic investigation at the age of 1 year showed elevated plasma C3-carnitine (2.20-1.88-7.4 μmol/L; upper limit: 0.81 μmoL/L) and C5-OH-carnitine (0.16-0.17-0.23 μmol/L; upper limit: 0.02 μmol/L). Urine analysis showed persisted elevated excretion of 3-OH-isovaleric acid (2193-504-146 mmol/mol creatinine; upper limit: 67 mmol/mol creatinine).
The combination of elevated C5-OH-carnitine and increased excretion of 3-OH-isovaleric acid may suggest a metabolic disorder (eg, beta ketothiolase deficiency, multiple carboxylase deficiency, and biotinidase deficiency). Biotinidase activity analysis in plasma showed a marginal decreased enzyme activity (4.2 nmol PABA/mL/min; normal range: 4.6-11.6 nmol PABA/mL/min). This was considered insufficient to explain her clinical symptoms. However, the biochemical and clinical similarities with a biotinidase deficiency suggested an intracellular biotin deficiency. For that reason, biotin supplementation (5 mg twice a day) was initiated. She made a good clinical recovery. Upon evaluation, apart from possible mild ischemic changes, no abnormalities were seen on MRI. She was discharged with a nasogastric tube to provide optimal feeding. A fasting test performed at the age of 20 months showed a normal fasting tolerance and the tube feeding was terminated at the age of 24 months.
Because of the severity of her metabolic derangement and ongoing distress with feeding problems, the parents agreed further diagnostic evaluation by trio-based whole exome sequencing (trio-WES). This revealed the compound heterozygous variants NM_021095.2: c.422_423del p.(Val141fs) and c.1865_1866del p.(Gln622fs) in the SLC5A6 gene. This gene codes for the SMVT. Parents were each heterozygous for one of the variants.
The genetic diagnosis was established at the age of 3 years. Before diagnosis, she had been treated with biotin supplements (5 mg twice a day). Her delay in gross motor development remained stable (−2 SD). Feeding problems still existed, resulting in poor weight gain (−1.6 SD) and a deviating height (−2.4 SD). Therefore, introduction of medical drink feeding was necessary. She had chronic diarrhea and sporadic vomiting. After diagnosis, the biotin dose was doubled to twice a day 10 mg and pantothenic acid (250 mg/day once a day) was added. Since then, her appetite increased, diarrhea resolved, and growth improved. But she still showed a delayed gross motor development of −2 SD (Bailey Scales of Infant Development-III).
Upon follow-up, biotinidase activity had normalized (11 nmol PABA/mL/min; normal range: 4.6-11.6 nmol PABA/mL/min) and plasma amino acids were within the normal range. Also, her biotinidase newborn screening result was normal.
Thyroid-stimulating hormone (TSH) was slightly increased 7.3 (0.35-5.0 mU/L), while free T4 16 (11-20 pmol/L), total T4 103 (80-180 nmol/L), and T3 2.4 (1.0-3.0 nmol/L) were normal. Her newborn brother was tested for variants in the SLC5A6 gene; he turned out to be carrier of the c.1865_1866del p.(Gln622fs) variant. |
pmc-6607444-1 | A 27-year-old woman presented with defective vision in the left eye (OS) for two weeks. She had sustained an open globe injury in her right eye (OD) ten years ago and globe repair was performed. Further, cataract extraction was done in the left eye two years ago. She had no known systemic illnesses. Visual acuity was doubtful light perception in OD and 3/60 in OS. Clinical exam showed a pthysical right eye. Anterior segment exam of OS revealed aphakia and greyish pupillary reflex. Indirect ophthalmoscopy demonstrated a total rhegmatogenous retinal detachment (RD) in OS. Intraocular pressure (IOP) in OS was 10 mm Hg.
A routine pre-surgical hematologic evaluation including total and differential blood counts, plasma glucose analysis, screening for Hepatitis B, HIV and syphilis was performed and no abnormalities were detected. Thereafter, she underwent 23-gauge transconjunctival RD surgery in a routine manner. A scleral buckle was not placed. At the conclusion of surgery, 360 degree endolaser was done. Silicone oil endotamponade was provided with 1000 cSt oil (Aurosil; Aurolabs, Madurai) and the sclerotomies were closed with 7-0 polyglactin sutures (Vicryl; Ethicon, New Jersey) placed in a shoelace pattern.
Five days after surgery, she presented with pain in the left eye, visual acuity in OS was 6/60 and IOP was 22 mm Hg. On examination, localized episcleral congestion and discharge were noted (Figure 1A ). Discharge noted over the site of sclerotomy and at the lid margins was white in colour and was not frankly suppurative. Nevertheless, a high index of suspicion for infection was maintained since this was the early postoperative period. A scleral abscess was suspected and samples were sent for microbial analysis. Empirical antibiotic coverage with moxifloxacin 0.5% eye drops (Vigamox; Alcon, TX) six times a day and tobramycin 0.3% eye drops (Toba; Sun Pharma, Mumbai) six times a day was initiated. Topical prednisolone acetate 1% (Predforte; Allergan, Ireland) was used hourly. Timolol 0.5% eye drops (Iotim; FDC Ltd, Aurangabad) were used two times a day.
Microbial analysis showed no organisms on microscopy or culture on agar plates (blood, chocolate, and Sabroud’s) and infusion broths. Hematologic investigations (complete blood count, plasma glucose and renal function tests) were unremarkable. In light of these laboratory reports, SINS was considered as the patient had undergone multiple ocular surgeries. Topical antibiotics were stopped. Topical prednisolone drops were tapered off in a weekly manner (8 times a day, 6 times a day, 4 times a day, 3 times a day and 2 times a day). A maintenance dose of topical prednisolone 2 times a day was maintained for a month. Oral prednisolone (Wysolone; Pfizer, Mumbai, India) was started at the dose of 40 mg once daily for a week. The dose was reduced in consecutive weeks to 30 mg, 20 mg, 10 mg and 5 mg in a tapering fashion. A maintenance dose of 5 mg was advised for a month.
With this regimen, the patient was relieved of symptoms in a week. Visual acuity was 6/60 and IOP was 20 mm Hg. Appreciable reduction in episcleral congestion was clinically made out. Although scleral necrosis was present, the nodule had decreased in size and the indurated margins were less prominent (Figure 1B ). Over four weeks, the signs reduced remarkably and inflammation subsided considerably. At first month, visual acuity had improved to 6/24 and IOP was 18 mm Hg. After two months, visual acuity in the silicone oil filled aphakic eye was stable at 6/24. Scleral thinning was noted with uveal show (Figure 1C ). IOP was maintained at 16 mm Hg with use of timolol eye drops. |
pmc-6607445-1 | A one-year-old boy presented to the emergency department with a sudden onset of fulminant edema of the right eyelid, making it impossible to open his right eye (Figure 1 ). The ophthalmologic examination showed painful eyelid edema with conjunctival chemosis. Due to the extensive eyelid swelling, it wasn’t possible to examine pupillary light reflexes or ocular motility nor to perform a fundus examination. The boy had a temperature up to 39.1°C. Physical examination showed an alert patient, without neurological or meningeal signs, but with cutaneous varicella lesions spread over his entire body.
Laboratory work up showed normal leukocytes (9.23 x 103/µl), thrombocytopenia (platelets 67 x 103/µl) and elevated CRP (52 mg/l). The boy hadn’t received his vaccination for varicella yet, which usually takes place between the age of 12 to 15 months. Clinical examination couldn’t exclude orbital cellulitis and revealed multiple enlarged lymph nodes in the neck region. There was a clinical suspicion of a secondary bacterial infection of the cutaneous varicella lesions around the eyelid. CT of the orbit revealed pronounced superficial soft tissue inflammation of the right periorbit without evidence of an intraorbital inflammation or abscess formation, cavernous sinus thrombosis or intracranial extension of the inflammation (Figure 2 ).
The boy was hospitalized for a trial of intravenously antiviral (acyclovir) and antibiotic therapy (amikacin, flucloxacillin, and ceftriaxone). The antibiotic therapy was changed to clindamycin after 2 days due to poor clinical response with also increasing swelling of his left eyelid (Figure 1 ). In immunocompetent children, VZV usually causes a benign infection without the need for systemic antiviral treatment, in this case the pediatrician decided to treat the varicella infection with intravenously acyclovir for 5 days (30 mg/kg/day in 3 divided doses). The laboratory markers of inflammation raised with a maximal leucocytosis of 23.8 x 103/µl and a CRP level of 190 mg/l. There weren’t any clinical signs of sepsis. The peripheral blood count and culture of vesicular fluid obtained at the emergency department were negative. On the second day of admission, the right upper eyelid ruptured spontaneously (Figure 1 ). We removed the overlying crusts and debris and took a swab of the underlying ulcer. Culture grew the anaerobic organism Veillonella parvula, without identifying any other bacterial or fungal organisms. Clindamycin was continued to cover anaerobe bacteria. The antibiogram showed resistance to penicillin, amoxicillin clavulanic acid and even metronidazole, but sensitivity to clindamycin and meropenem. The source of infection was most likely a superinfection of the varicella skin lesion. Clindamycin was given intravenously for 3 weeks with a good clinical response showing a slow but progressive decline of the eyelid edema. When the boy was discharged from the hospital, clindamycin was continued orally for another 4 weeks, resulting in a total antibiotic treatment duration of 7 weeks. The eyelid swelling with a hardened eyelid persisted for 4 months. Because of this, the boy was unable to fully open his eye in the first 4 months, obscuring the child’s visual axis and putting him at great risk for developing occlusion amblyopia (Figure 3 ). The patient gained a full recovery with a complete resolution of the eyelid edema and a clear visual axis without need for surgical intervention. He is still in follow-up with a pediatric ophthalmologist for regular amblyopia screening and early treatment if necessary. |
pmc-6607447-1 | A 28-year-old male with no known medical illness presented with a history of pain, redness and decreased vision in the right eye for the last 4 months. On examination, his visual acuity was no perception of light with intraocular pressure of 58 mmHg while he was on oral acetazolamide and topical beta blocker/alpha-2 agonist combination in the right eye. On slit lamp biomicroscopy examination, conjunctival congestion, corneal edema, mid-dilated pupil non-reacting to light, neovascularization of iris, and shallow anterior chamber with cellular reaction were noted in the right eye (Figure 1 ). Fundus was not visible.
Gonioscopy examination with indentation revealed angle closure without any sign of neovascularization. The left eye showed a visual acuity of 20/20 with –0.75 DS correction, an intraocular pressure of 14 mmHg, a normal anterior chamber and normal disc and macula. Ultrasonography of the right eye revealed a mushroom-shaped, elevated, solid lesion in the superotemporal sector with a base diameter of approximately 15 mm with low to moderate internal reflectivity and regular internal structure suggestive of choroidal melanoma (Figure 2 ).
After systemic clinical evaluation and ruling out systemic involvement, the enucleation of the right eye was performed. The microscopic examination of the section showed choroid tissue infiltration by a tumour arranged in sheets and fascicles with elongated spindle-shaped vesicular nuclei with prominent nucleoli and abundant melanin pigment (Figure 3 ). The tumour cells were positive for HMB45, S100 and Melan A. The histopathological examination along with the immunohistochemistry studies confirmed the diagnosis of malignant choroidal melanoma. The patient is under regular follow-up in outpatient care and has not shown any evidence of local or systemic relapse 1 year after the diagnosis and treatment. |
pmc-6607531-1 | A 35-year-old man with T1DM presented to ED, having been found in an acutely confused state at home. Having not left his bedroom for 2 days, his co-habitants alerted emergency services who forced entry to his bedroom and found him in an unkempt, confused state. On arrival he was agitated, confused, unkempt and uncommunicative. The majority of the clinical history was provided by his parents who had seen him well 2 days previously. They described an independent 35-year-old man who had no complaints in the days leading up to his admission. They described poor engagement with medical services regarding his diabetes and multiple sclerosis. His social and recreational history was provided by the family, who were aware of his occasional illicit drug use, excessive alcohol intake and smoking status. Additional information regarding his past medical interventions and treatments was available in his medical record.
His medical background was significant for T1DM, diagnosed at age nine. He was taking basal/bolus insulin. His diabetes was complicated by background diabetic retinopathy. He poorly engaged with diabetes services and had not attended his diabetes clinic appointments for two years prior to presentation, solely attending his general practitioner when repeat insulin prescriptions were required. He had a history of poor glycaemic control with HbA1c ranging from 67 to 99 mmol/mol (8.3 to 11.2%) over the previous ten years, one previous DKA eleven years prior which was attributed to excess alcohol intake and omission of insulin and one previous hypoglycaemic seizure following incorrect self-administration of insulin. Relapsing Remitting Multiple Sclerosis (RRMS) was diagnosed at age 26, and he was an infrequent attender of the neurology clinic, having previously been prescribed interferon beta but had self-discontinued using 5 years previous. His multiple sclerosis had been clinically and radiographically stable; with most recent MRI brain performed 2 months prior to his presentation (Fig. ). He had been suffering with mild to moderate depression for four years prior to admission and was taking escitalopram. He also had experienced a suspected seizure six months prior to his presentation however, unfortunately, he failed to attend for investigation of this episode.
There was no significant family history. He worked as a caretaker in a school, was living independently and smoked ten cigarettes per day. He also was known to take excess alcohol, and smoked cannabis twice per week.
On examination his vital signs were normal however his Glasgow Coma Scale (GCS) was 9 (eye opening 3, verbal response 1, motor response 5). Cardiovascular, respiratory and abdominal exams were normal. Focused neurological examination including cranial nerves, fundoscopy, gait, tone and reflexes did not show a focal deficit but was limited especially in higher cortical function assessment by inability of the patient to co-operate with examination.
Biochemistry was consistent with DKA (pH 7.17, blood ketones 8 mmol/L and blood glucose 26 mmol/L). Alcohol levels were undetectable, urine and serum toxicology screens were negative and there was no clinical, biochemical or radiological evidence of infection. Full blood count, urea and electrolytes, liver function, and C-reactive protein were normal. Thyroid function, iron, ferritin and B12 were normal, however he was folate deficient (2.3μg/L). HbA1c was 70 mmol/mol (8.5%). Computed tomography (CT) imaging of the brain showed no acute pathology.
Cerebrospinal fluid (CSF) analysis on the second day of admission revealed an elevated protein at 61 mg/dl with normal glucose 6.3 mol/L, erythrocytes 86u/L and leucocytes 1/uL. CSF Viral PCR for Herpes Simplex Virus 1 + 2, Varicella Zoster Virus, Enterovirus, Human Herpes Virus 6, Epstein Barr Virus DNA, John Cunningham Virus (JCV) DNA and cytomegalovirus were all negative. CSF cytology showed no evidence of abnormal or malignant cells. Serum and CSF gram stain and culture were both negative. Serum Treponema pallidum, HBV, HCV and HIV 1 + 2 were negative.
Connective tissue disease screen including antibodies to anti-nuclear factor, double stranded DNA, RNP, anti-phospholipid, Smith, Ro and La were all negative. Beta-2 glycoprotein and anticardiolipin IgG and IgM were normal. Immunoglobulins G, A and M and serum protein electrophoresis were normal.
Serum paraneoplastic antibodies were negative. Extensive immunological screen of anti-GFAP, anti = GAD65, anti-MOG, anti-GABAB receptor, anti-AMPA I + II, Aquaporin 4 NMO, Anti TTG antibodies were negative. Immunofluorescence and immunoblot did not reveal evidence of Anti-Yo, Anti-Hu, Anti- Ri, Anti Ma1, Anti Ma2, anti-cv2/CRMP5, Amphiphysin, Sox-1, Zic-4, anti-Tr antibodies. Anti-VGKC, anti-NMDA receptor and anti-TPO antibodies were negative. Carnitine, homocysteine, vitamin D and ammonia levels were normal. Mitochondrial POLG genetics were negative. Anti-glutamic acid decarboxylase levels were negative/within normal range.
An Electroencephalogram (EEG) was attempted repeatedly, but unfortunately was abandoned on a number of occasions, due to severe agitation. When obtained three weeks after presentation, EEG showed global cerebral dysfunction without definite epileptiform features and no electroencephalographic seizures were detected.
MRI brain scan showed new diffuse high signal changes in both temporal lobes and hippocampi (Fig. c-f). He also had a number of subcortical and periventricular demyelinating plaques, that were stable in number and size compared with his most recent RRMS surveillance MRI (Fig. a-b). Follow-up imaging at 6 weeks showed progression of these changes with high signal now extending into the insular cortex bilaterally.
Due to these progressive radiological changes and lack of clinical improvement the patient underwent a temporal lobe biopsy which showed marked astrocytic gliosis, without evidence of vasculitis, diffuse parenchymal inflammation, infarction or neoplasia (Fig. a-b). Immunostaining for HSV1, HSV2 and SV40 (JCV marker) were all negative.
The precipitant of DKA in this case is unclear given his absent period prior to admission, and may have been multifactorial. We postulate that it may be due to a combination of omission of insulin with or without alcohol misuse, as this was his previous precipitant. Starvation and alcohol excess may have also contributed to ketoacidosis.
There are multiple differentials of encephalopathy in this case. As the patient was not seen for two days prior to presentation he may have had an unwitnessed traumatic brain injury however this was not apparent on imaging. Toxic brain injury was also considered however the radiological findings were inconsistent with this and toxicology screen was negative. Wernicke’s encephalopathy was considered given his previous alcohol history, however there was no improvement with high dose B vitamin supplementation and the clinical and imaging features would not be in keeping with that diagnosis. Infectious aetiology should always be considered in patients presenting with encephalopathy. Indeed, the finding of high signal within the temporal lobes extending to the insula would fit with a viral encephalitis, such as that caused by HSV. However, the lack of diffusion restriction and microhaemorrhages on his imaging, lack of brain biopsy features as well as repeatedly negative CSF viral PCR and normal leucocyte count make this diagnosis unlikely. Other rarer causes of encephalopathy including autoimmune, vasculitic and paraneoplastic disease were also explored and ruled out. Sub-clinical seizure activity may have caused his persistent behavioural disturbance in the acute phase but unfortunately the patient was initially unable to cooperate with EEG testing and there were no features on repeated clinical examination by a neurologist of overt seizures. Nutritional deficiency such B vitamin / folate deficiency could have also played a role, the patient had mild folate deficiency which would not typically cause such a devastating neurological injury, however may have contributed to susceptibility to brain injury.
Cerebral oedema due to diabetic encephalopathy can cause brain injury however there was no clinical or radiographical evidence of this. Therefore, we feel that metabolic encephalopathy due to DKA is the most likely diagnosis in this case.
The differential of metabolic encephalopathy secondary to DKA was raised approximately one week into the clinical admission following negative viral PCR and lack of improvement with thiamine and chlordiazepoxide. Initially the most likely diagnosis was a viral or toxic encephalopathy, however with no clinical improvement to treatment a wider differential was considered. A comprehensive suite of investigations ensued to undercover the aetiology of the patient’s behavioural disturbance, however neither imaging, laboratory or pathological specimens led to a definite cause. Following multidisciplinary discussion, the diagnosis of metabolic encephalopathy secondary to DKA was reached.
He was commenced on a DKA management protocol which consisted of aggressive intravenous fluid resuscitation, intravenous continuous insulin infusion and intravenous and oral replacement of potassium, phosphate and magnesium. DKA management protocol was continued for forty-eight hours, at which point all biochemical markers were within normal limits and the patient was transitioned to basal-bolus insulin regimen. In addition, the patient was also given intravenous high dose B vitamins and a reducing regimen of chlordiazepoxide over one week. He received folic acid supplementation 5 mg daily for two months. Subsequent treatment was largely supportive. Empiric antiviral therapy was given for HSV (later HSV PCR came back as negative, although two-week course complete). He underwent intensive rehabilitation involving a multidisciplinary team of occupational therapy, physiotherapy, social care and neuropsychology.
Subsequent imaging at 3, 4 and 6 months post presentation demonstrated persistent but stable high-signal changes in the temporal lobes bilaterally.
Unfortunately following temporal lobe biopsy the patient experienced generalized tonic clonic seizures which were difficult to control, requiring three antiepileptic agents. EEG was performed at this point, ten weeks into his admission following temporal lobe biopsy. The findings were in keeping with an encephalopathic state with a highly epileptogenic focus in the left frontocentral region.
He remained relatively unchanged for the next 18 months with persistent severe global cognitive impairment with most marked deficits in attention, short-term memory and ability to learn new information. He had ongoing erratic control of his blood sugars, attributable to inconsistent oral intake. He continued to have seizures with generalised tonic-clonic events occurring approximately once per month. Behavioural issues remained a problem and he required constant supervision, ultimately requiring long term residential care. |
pmc-6607580-1 | An asymptomatic 48-year-old Hispanic female patient presented with a polypoid mass protruding into the endocervical canal during a gynecological examination in April 2014. The lesion had a cerebroid appearance during biopsy. Microscopic study revealed an epithelial neoplasm with a tubular, ductal, and papillary growth pattern producing intraluminal eosinophilic secretory material, located on a densely hyalinized stroma (Fig. a). The tumor cells were positive for CD10 (luminal pattern), p16INK4a (non-block staining pattern), PAX2 (Fig. b, c, d), inhibin, cytokeratin 7, WT-1, wild-type p53 (images not shown), and negative for estrogen receptors, progesterone receptors, cytokeratin 20, CEAm, and calretinin (images not shown). The Ki-67 index of the tumor was around 46%. This histological and immunophenotypic picture confirmed the diagnosis of mesonephric adenocarcinoma of the endocervix. With this diagnosis, the patient underwent a total hysterectomy outside the institution. Three years later, the patient presented pulmonary nodules in the lingula and left basal lobe that were resected by thoracotomy. The histological pattern (tubular, ductal, and papillary) (Fig. a) and the immunohistochemical profile (CD10, TTF-1, PAX8, Beta-catenin (membrane pattern) (Fig. b, c, d, e), PAX2 and p16 positive) of the pulmonary nodules correlated to those of the endocervical tumor. PAX8 staining was performed in order to document the gynaecological origin of the lung nodules [, ]. These findings confirmed metastasis of the endocervical mesonephric adenocarcinoma. The tumor was subjected to a multiple gene study using next-generation sequencing (NGS) technology (FoundationOneTM) to find therapeutic targets in our patient. Genomic alterations were identified in KRAS (G12C) and CTNNB1 (G34R). Additional findings were absence of microsatellite instability and a low tumor mutation burden with three mutations per megabase (TMB-Low, 3 Muts/Mb). Copy number analysis by CISH using the SPEC 1p36 and SPEC 1q25 Dual color probe (Zytovision) identified gain of chromosome 1q (Fig. f). |
pmc-6607589-1 | A 26-year-old Sinhalese woman was transferred from a local hospital with a history of reduced urine output, shortness of breath, reduced level of consciousness, abdominal pain, vomiting, and mild degree fever of 2 days’ duration. Her bilateral lower limbs were edematous but she was not pale or icteric. Her pulse rate was 112 beats per minute and blood pressure was 140/70 mmHg. An abdominal examination did not reveal organomegaly. Bilateral lower zone crepitations were noted on lung auscultation. Her respiratory rate was 20 cycles per minute and oxygen saturation was 97% on air. She had right-sided lower motor type facial nerve palsy. Glasgow Coma Scale was 13/15. The rest of the neurological examination including other cranial nerves and ophthalmoscope examination was unremarkable.
Our initial working diagnosis was leptospirosis with acute kidney injury and treatment was initiated accordingly (intravenously administered antibiotic and hemodialysis via femoral vascular catheter), but we could not explain the cranial nerve involvement. The following day she came out with the history of a suicide attempt in which she had self-ingested brake oil (amount not clear) after a conflict with her husband.
On admission her renal functions were deranged with serum creatinine of 352 μmol/ L, blood urea of 14.1 mmol/l, Na+ 140 mmol/l, and K 5.2 mmol/l. Arterial blood gas showed pH 7.08, partial pressure of oxygen (PO2) 94, partial pressure of carbon dioxide (PCO2) 28, bicarbonate (HCO3) 13.8, and base excess − 18 mEq per liter. Her serum osmolality was 339 mosmols with an osmolar gap of 20 mOsm/kg and anion gap was 32 mEq/l. Although relevant, her urine was not examined for calcium oxalate crystals. Full blood count showed hemoglobin of 12.7 g/dl, platelet of 185 × 106/L, and white cell count of 15.2 × 106/L. Her C-reactive protein was 22 mg/dl. Her random blood sugar was 92 mg/dl. Her blood and urine cultures were negative. Her pro-calcitonin levels were within normal range. A chest X-ray did not reveal any abnormality such as consolidation or pleural effusion. A non-contrast computed tomography (CT) scan of her brain was normal. Leptospira antibody tested after 10 days of disease was negative. She was started on initial consecutive daily dialysis followed by every other day dialysis which yielded a considerable improvement in renal functions. After 10 days of hospital stay she was discharged with residual facial nerve palsy. Over the course of 3 months’ clinic follow-up she had complete renal and neurological improvement. |
pmc-6607698-1 | A 30-year-old female patient presented to our clinic with a left neck mass that she noticed a few months prior to clinical evaluation. She had a full range of motion in her neck and rarely complained of pain but did notice a lot of difficulty swallowing. The patient reported the mass has been increasing in size. She denied any fever, chills, nausea, vomiting, redness, or drainage around the mass. The rest of her history was unremarkable to the case. On physical exam, the patient was noted to have a BMI of 43.67 and all vital signs were within normal limits. The physical exam showed a left neck mass with poorly defined borders, nontender, and without inflammatory changes. The patient previously had an ultrasound of the left neck which demonstrated a circumscribed solid echogenic mass measuring 6.7 cm × 1.8 cm × 4.8 cm which corresponded to the palpable abnormality superior to the clavicle. The mass was identified as a lipoma ().
A left lateral transverse incision and dissection showed no subcutaneous mass. Intraoperative Doppler showed extreme medial displacement of the carotid sheath vessels. Then, a formal lateral neck dissection released the medial investing fascia of the sternocleidomastoid muscle enabling its further lateral retraction (). The mass was located substernocleidomastoid, from the C3 vertebral level down to the lung apex. It was medially displacing and abutting both the carotid sheath and the cervical thoracic duct as it drains into the internal jugular and subclavian vein junction. Subsequent carotid sheath dissection was performed with exposure of the internal jugular vein and common carotid artery at its internal/external branching. Also noted during the lipoma excision were large suspicious lymph nodes in the area posterior to the sternocleidomastoid. A formal left lymphadenectomy at levels II-IV was done. Free lymphatic channels near the apex of the lung and internal jugular vein were noted with small clear to milky fluid exudation. Fibrin glue was sprayed on the chyle leak site. Further examination of the dissection site and the mass itself extracorporeally showed complete removal (). A small JP drain was applied. Her postoperative course was uneventful, and the patient was discharged the following day with a drain in place. The pathology report of the soft tissue mass showed mature adipose tissue consistent with a lipoma. The cervical lymph nodes were benign with no atypical lymphoid infiltrates, granulomas, or metastatic disease.
The drain was removed after 2 weeks of follow-up when the drainage stopped only to present later with swelling and erythema surrounding the JP drain site. A CT of the neck showed a fluid collection at the area of the JP drain site measuring 3.7 × 3.1 cm. She underwent IR drainage of the fluid and returned 10 cc of chyle fluid. It drained the same volume amount daily. Fluid culture came back positive for MSSA—methicillin-sensitive Staphylococcus aureus. She was discharged 3 days later with a 5-day course of Bactrim. The drain was removed one week after discharge. |
pmc-6607703-1 | A 29-year-old male with end-stage liver disease due to secondary biliary cirrhosis with a MELD score of 20 presented for orthotopic liver transplant. His liver disease was complicated by portal hypertension, hepatic encephalopathy, jaundice, and pruritus. Additionally, he had an asymptomatic holosystolic cardiac murmur. The patient received a postcross clamp offer from a 21-year-old brain-dead donor with apparent 40-50% fat. Intraoperative monitoring included an Arterial line, CVP monitoring, and TEE.
The operation was performed with caval replacement, portal vein (PV) to PV, and recipient hepatic artery (HA) to reconstructed donor HA. Prior to reperfusion the patient was on 0.04mcg/mg/min of epinephrine and had required 3 units of packed red blood cells (PRBCs). At reperfusion the patient received multiple boluses of 2-4 units of vasopressin and 25-50mcg boluses of epinephrine. An hour following the initial hypotension at reperfusion, the patient persisted with hemodynamic instability, requiring 5 units of PRBCs, multiple fluid boluses, and the addition of 0.04 units/minute of vasopressin, 1mcg/kg/min of phenylephrine, and 0.1mcg/kg/min of norepinephrine. At this time the allograft appeared congested and enlarged.
Intraoperative ultrasound (US) was used by the surgeon and radiologist to evaluate the intrahepatic vessels for flow (). Initially, thrombus was noted in the hepatic veins, then in the IVC. The window to visualize extension above the liver was not possible due to lung and intra-abdominal gas. The liver exposure was not enough to place a probe directly on the hepatic vein/IVC junction. Therefore, the cause and extent of the suprahepatic caval obstruction was incompletely visible.
Intraoperative TEE examination was performed to more thoroughly assess the cause and extent of the thrombus. Modified transgastric hepatic vein view () was obtained first by rotating the probe clockwise from the transgastric view, and then opening the omniplane angle to about 60 degrees to find the long-axis view of the hepatic vein. Alternating between the modified transgastric hepatic vein view and a modified bicaval view, we were able to view the IVC from the hepatic vein to the atriocaval junction. This confirmed the presence of an inferior vena cava (IVC) suprahepatic anastomotic stenosis and hepatic vein thrombus resulting in hepatic outflow obstruction, allograft congestion, and hemodynamic instability ().
The echocardiographic findings guided real-time surgical decision-making in the postimplantation phase of the operation, ultimately leading to IVC thrombectomy and revision of suprahepatic caval anastomosis which resulted in subsequent allograft decompression. The patient recovered from OLT and has normal graft function at 18 months postoperatively. |
pmc-6607705-1 | Case 1. A 5-year-old boy was diagnosed with PDA and cardiac dilation. A clear diagonal line was seen in the main pulmonary artery. Its shape and length changed in the different echocardiographic views (Figures , , , and ). A linear line was seen in color Doppler imaging (). We also observed the artifact in the patient's video recording (). This patient's diagnosis was confirmed by CTPA (Figures and ) and surgery. |
pmc-6607705-2 | Case 2. A 1-year-old girl was diagnosed with an atrial septal defect (ASD) without pulmonary artery dilation or PAH. A horizontal line was seen in the main and left pulmonary arteries and varied in different echocardiographic views (Figures –). We also visualized the ASD flow from the left to right atrium (). The length of the linear artifact was short. The thymus gland was prominently seen. This patient's diagnosis was proven by surgery. The surgeon repaired the ASD and found no fibrous band or dissection in the pulmonary artery. |
pmc-6607705-3 | Case 3. A 2-year-old girl was diagnosed with PDA. A very long diagonal line was seen in the main pulmonary artery from the left high parasternal view and suprasternal aortic short-axis view (Figures –, and ), but not in the aortic short-axis view or pulmonary artery long-axis view (Figures and ). The long, thick artifact line was clear and could still be seen in color Doppler imaging (). The adjacent thymus gland was clearly visualized. This patient underwent PDA ligation without evidence of dissection in the pulmonary artery. |
pmc-6607705-4 | Case 4. A 38-year-old woman was diagnosed with systemic lupus erythematosus and PAH. Pulmonary artery dilation and a long diagonal line were seen from the left pulmonary artery to the main pulmonary artery (). CTPA showed pulmonary artery dilation without a luminal filling defect (). The right heart was significantly enlarged and hypertrophied. We also observed the artifact in the patient's video recording (). |
pmc-6607713-1 | A previously healthy 54-year-old female presented to emergency services with acute onset of malaise, nausea, palpitations, and presyncope. Her ECG showed monomorphic ventricular tachycardia at 230 bpm, and she underwent successful cardioversion. Hemodynamic stability was restored, and she was admitted to the cardiac intensive care unit.
Initial cardiovascular examination was pertinent for a positive abdominojugular reflux sign and a third heart sound. There was no clinical evidence of pulmonary or systemic congestion or low cardiac output state, and no other manifestations of systemic disorders were present.
ECG in sinus rhythm revealed a nonspecific intraventricular conduction delay with a QRS duration of 130 ms, a P wave of 1 mm in the lead II, a PR interval of 166 ms, and a QTc of 507 ms at a heart rate of 96 bpm. Transthoracic echocardiography showed left ventricular systolic dysfunction with an estimated ejection fraction of 35%, preserved right ventricular function, and no valvular abnormalities (aortic root dimension of 2.9 cm, left atrium of 3.2 cm, LV diastole of 4.9 cm, LV systole of 4.0 cm, fractional shortening of 18.6%, interventricular septum of 0.85 cm, posterior wall of 0.78 cm, left atrium volume index of 36.3 ml/m2, left ventricular mass of 79.3 grams/m2, left ventricular outflow tract diameter of 2.2 cm, stroke volume of 39.9 ml, end diastolic volume (MOD-bp) of 128.5 ml, ejection fraction (MOD-bp) of 31.1%, cardiac output (LVOT) of 4.9 l/min, stroke volume (LVOT) of 57.3 cc, TAPSE of 2.2 cm, and RV S' velocity of 11.5 cm/sec). Coronary arteries were angiographically normal. On cardiac magnetic resonance imaging, there was extensive, midwall patchy late gadolinium enhancement consistent with acute myocarditis ().
A serum blood work revealed a hemoglobin count of 141 g/l with an MCV of 92 fl, a platelet count of 182 × 109/l, a WBC of 12.3 × 109/l with a differential (neutrophil 8.2 × 109/l, lymphocytes 2.8 × 109/l, monocytes 0.9 × 109/l, eosinophils 0.3 × 109/l, and basophils 0.1 × 109/l), a high-sensitivity troponin T of 46 ng/l, an NT-proBNP of 261 ng/l, an ESR of 11 mm/h, and a CRP of 3.2 mg/l. An infectious panel was negative for cytomegalovirus, Epstein–Barr virus, hepatitis B, hepatitis C, herpes simplex virus, HIV, mumps, toxoplasmosis, and varicella.
Right ventricular endomyocardial biopsy was performed. This demonstrated features typical of GCM, including extensive myocyte damage, multinucleated giant cells, and mixed inflammatory cell infiltrate. There was no granuloma formation (). Autoimmune and connective tissue disease serology was unremarkable (negative anti-nuclear antibody, glomerular basement membrane antibody, anti-neutrophil cytoplasmic antibody, myeloperoxidase antibody, proteinase 3 antibody, and lymphotoxic antibody screening). Anti-heart autoantibodies were not tested on the patient and may be a limitation in the diagnosis of GCM.
The patient was treated with standard heart failure therapy including a beta-blocker, angiotensin receptor inhibitor, and mineral corticoid receptor antagonist. Once the diagnosis of GCM was confirmed, a combined immunosuppressive therapy with high-dose prednisone (60 mg daily), tacrolimus (alternating doses of 1 mg and 2 mg daily), and mycophenolate mofetil (1000 mg BID) was added. She also underwent implantation of a secondary prevention dual chamber ICD. In total, the diagnosis of GCM was established within 8 days of presentation, immunosuppressive therapy prescribed on day 9, and ICD implanted on day 14. Total hospital stay was 16 days, and there was no recurrence of VA or heart failure progression. She was discharged in stable condition and remained NYHA II at her follow-up appointments. Her echocardiogram at 6 and 12 months is unchanged with severe LV systolic dysfunction with minor regional variability and mild RV dysfunction. Repeat biopsy performed at 6 months demonstrated interstitial fibrosis and myocyte hypertrophy. Currently, our patient remains on her current immunosuppressive therapies aside from a tapering of her steroid dose to 5 mg daily. |
pmc-6607722-1 | A 27-year-old man was referred to our pain clinic with an 8-day history of postural headache. He had undergone L4–5 laminectomy 7 years earlier to treat a herniated nucleus pulposus at the L4–5 level. He underwent acupuncture therapy 9 days before presenting to our clinic to manage chronic lower back pain caused by postlaminectomy syndrome. The acupuncture treatment involved the insertion of a needle 10 cm long from the center and laterally. After the procedure, the patient had a severe headache, which had a numeric rating scale of 7 to 9 out of 10. He felt pain upon sitting, together with fullness of the ears and neck stiffness. On assuming a supine position, his symptoms resolved within 5 min. The physical and neurological examinations were normal. He was diagnosed with PDPH and placed on bed rest. In the clinic, an EBP was performed via an interlaminar approach at the L2–3 level. However, his symptoms did not improve. Consequently, he was referred to our hospital.
In our clinic, under fluoroscopic guidance, we performed an interlaminar EBP using an 18-guage Tuohy needle (Tae-Chang Industrial, Seoul, Republic of Korea) at the L2–3 level. After successful loss of resistance, 15 mL sterile autologous blood was injected at the L2–3 level in the midline without a catheter. However, this failed to relieve the patient's symptoms, which still occurred within 5 min of standing or sitting up. The patient continued conservative care, including bed rest, hydration, and taking acetaminophen. Brain magnetic resonance imaging (MRI) looking for the site of CSF leakage was unremarkable, while a MRI myelogram showed an abnormal fluid signal intensity in the left lumbar area, along the left paraspinal muscle and soft tissues at the L3–4–5 level, probably due to CSF leakage. Because of the persistent symptoms, a repeat fluoroscopically guided interlaminar EBP was performed 4 days after the initial procedure using 15 mL autologous blood at the L4–5 level. The day after this procedure, the patient reported slight symptom relief but again experienced the same severe headache, posterior neck tenderness, and fullness of the ears after standing for 15 min. The conservative care was continued.
The patient's postural headaches persisted for 4 days, so we decided to perform a transforaminal EBP at the L3–4 and 4–5 levels on the left side, the site of leakage in the MRI myelogram (). Under fluoroscopic guidance, a 22-gauge needle (Hakko, Japan) was inserted with a transforaminal approach and then contrast was injected at the left L3–4 and L4–5 levels (). Then, after epidural spread was seen, 3 mL sterile autologous blood was injected into the transforaminal epidural space at each level. During injection, the patient's vital signs were monitored and the injection was stopped when the patient began to feel pressure in his lower back, but no pain or paresthesias were reported.
After the transforaminal EBP, his headache and other symptoms finally subsided without complications. The patient was symptom-free the next morning. After 4 days, the patient was discharged. At the 2-week follow-up, he reported being headache-free and his activities had returned to normal. |
pmc-6607729-1 | A 22-year-old male with history of cystic fibrosis without mention of meconium ileus presented to the emergency department for nausea, vomiting, subjective fever, and acute-on-chronic, self-remitting right upper quadrant (RUQ) abdominal pain for the past six years with no clear etiology, leading to multiple hospital admissions. Prior workup included esophagogastroduodenoscopy, colonoscopy, and laboratory and imaging studies (abdominal ultrasound and CT of the abdomen and pelvis), all of which were negative for underlying pathology, except for unexplained intermittent subjective fever, leukocytosis of 12,000–16,000 per uL, and RUQ sharp abdominal pain. Past medical history was otherwise unremarkable except for chronic exocrine pancreatic insufficiency due to CF, currently managed by oral pancrelipase medication. Past surgical history included laparoscopic appendectomy, with no prior history of cholecystectomy or history of cholelithiasis. During the current admission, the patient reported acute recurrence of nausea, vomiting, subjective fever, and sharp RUQ abdominal pain. Initial workup showed low-grade fever of 99-100°F, leukocytosis of 14,000 per uL, RUQ tenderness, and positive Murphy's sign on physical exam, similar to his prior hospital admissions. Other than low-grade fever, the remaining vital signs were within normal limits. Additional laboratory tests showed mildly elevated liver enzymes: alanine transaminase (ALT): 56–60 U/L, aspartate transaminase (AST): 35–76 U/L, alkaline phosphatase (ALP): 229–248 U/L, and gamma-glutamyl transpeptidase (GGT): 68 U/L. A chest radiograph and a non-contrast-enhanced chest CT demonstrated apical bronchiectasis with no signs of consolidation or pneumonia, unchanged when compared to the patient's prior studies (Figures –). Prior abdominal CT and abdominal ultrasound (US) studies from the patient's previous admissions indicated nonvisualization of the gallbladder. On the abdominal CT study of the current admission, the gallbladder was not readily visualized; however, a small tubular structure in the gallbladder fossa measuring 2.5 cm in length and 0.8 cm in width raised the suspicion for gallbladder hypoplasia versus microgallbladder (Figures and ). Subsequent hepatobiliary iminodiacetic acid (HIDA) scan () and magnetic resonance cholangiopancreatography (MRCP) demonstrated a small gallbladder with patent cystic duct corresponding anatomically to the tubular structure seen on the abdominal CT scan (Figures and ). Due to the lack of imaging findings of gallstones, endoscopic retrograde cholangiopancreatography (ERCP) was not indicated at this time. After reviewing the literature, the diagnosis of microgallbladder was made based on the characteristic imaging findings of a small-size gallbladder and the patient's clinical history and presentation. The patient was treated conservatively with bowel rest and pain medication and was discharged on the third day of admission with outpatient follow-up. |
pmc-6607730-1 | A 21-month-old male presented to the emergency department (ED) three hours following an exploratory ingestion of half of a naphthalene-containing mothball. Vital signs on arrival were heart rate 163 beats per minute, blood pressure 99/55 mmHg, temperature 99.4 degrees Fahrenheit, respiratory rate 44 breaths per minute, and oxygen saturation 95% on room air. The patient did not initially present with gastrointestinal symptoms prior to arrival but in the ED exhibited nonbilious, nonbloody vomiting, with four subsequent episodes overnight. Physical examination was otherwise unremarkable with no signs of jaundice or abdominal tenderness. The patient was given one 20 mL/kg bolus of normal saline and 2 mg of sublingual ondansetron to manage his tachycardia, tachypnea, and vomiting.
Initial laboratory studies were remarkable for a hemoglobin of 4.5 g/dL (reference 9.6 to 15.6 g/dL), hematocrit of 14.4% (reference 34.0 to 48.0%), reticulocyte count of 6.8% (reference 0.5 to 1.5%), blood urea nitrogen of 22 mg/dL (reference 4 to 13 mg/dL), total bilirubin of 4.06 mg/dL (reference 0.00 to 1.00 mg/dL), lactate dehydrogenase (LDH) of 886 units/L (reference 155 to 345 units/L), haptoglobin of less than 15 mg/dL (reference 33 to 188 mg/dL), and methemoglobin of 1.8% (reference 0.0 to 1.4%). Creatinine was found to be less than normal at 0.23 mg/dL (reference 0.3 to 0.7 mg/dL). Chest and abdominal radiographs were negative for radiopaque foreign bodies. Abdominal ultrasound was not performed. Red blood cell morphology included microcytosis, hypochromasia, and polychromasia. Direct antiglobulin testing for IgG and C3 was both negative.
Review of the patient's outpatient medical records revealed that he was diagnosed with G6PD deficiency at 13 months of age. A hemoglobin level performed as an outpatient a year prior to this visit was 11.7 g/dL. Due to the ingestion of a naphthalene-containing mothball, concerning the signs of acute hemolysis, the decision to transfuse the patient with packed red blood cells was made.
After successful transfusion of two units of 7.5 ml/kg packed red blood cells four hours later, the patient's vital signs improved. Repeat laboratory findings at that time included a hemoglobin of 7.7 g/dL, hematocrit of 22.6%, reticulocyte count of 0.9%, blood urea nitrogen of less than 5 mg/dL, total bilirubin of 0.44 mg/dL, LDH of 359 units/L, and methemoglobin of 0.5%.
The patient was discharged after 72 hours of continuous observation, and repeat trending of the patient's complete blood count showed a normal CBC, reticulocyte count, LDH, and comprehensive metabolic panel. The patient remained asymptomatic after treatment, and the patient's family was counseled regarding the removal of naphthalene mothballs from the home. |
pmc-6607931-1 | Case 1 is a 62-year-old female never-smoker with newly diagnosed lung adenocarcinoma. Her mother had colon cancer in her early 40s. Her father and five siblings had no history of cancer. The patient underwent a resection of a single polyp at the age of 60. Final pathology showed tubular adenoma. She also had a stable breast nodule at age 62, and no medical intervention was performed until her diagnosis of lung adenocarcinoma. At age 62, a CT scan showed a 24.2 × 22.5 mm nodule in the left upper lung during her regular physical examination, and later an MRI showed multiple lesions on the left occipitoparietal lobe and cerebellum. A tissue biopsy demonstrated lung adenocarcinoma that stained positive for TTF-1, and CK7, but was CK5-negative. As the tissue biopsy did not provide an adequate amount of DNA for NGS, peripheral blood samples were sent for NGS liquid biopsy. Somatic missense mutations in MAP2K2 (NM_030662.3, c.1069C>T, p.R357W) and GNAS (NM_080425.2, c.1856G>A, p.C619Y) were detected in ctDNA with variant allele fractions (VAFs) of 0.005 and 0.004, respectively. A germline heterozygous loss-of function variant in MSH2 (NM_000251.2, c.340delG, p.E114Rfs*60) was also detected (). This mutation is a frameshift mutation that is likely to cause partial or complete loss of the gene product. It has never been previously reported and was absent from controls in the NHLBI GO Exome Sequencing Project (), 1000 Genomes Project () and Exome Aggregation Consortium (). Other pathogenic frameshift mutations 5' to this position were reported in cancer patients (, ). As a result, it was classified as “likely pathogenic” according to the American College of Medical Genetics and Genomics (ACMG) guideline. As stated above, IHC showed intact expression of MSH2, MSH6, MLH1, and PMS2 (). PCR-based MSI testing was not done due to insufficient tissue availability. As no actionable somatic mutations were identified and TMB was low, the patient underwent first line platinum based chemotherapy, and achieved the best response of stable disease. Due to the diagnosis of Lynch syndrome, all of the patient's siblings and her son were tested for the MSH2 p.E114Rfs*60 mutation. The patient's sister also harbored the variant and was diagnosed with Lynch syndrome (). |
pmc-6607931-2 | Case 2 is a 74-year-old female never-smoker with newly diagnosed lung adenocarcinoma. She had multiple solid nodules in both lungs that had been stable for 5 years until March 2017, when gradual elevation of carcinoembryonic antigen was noted during a regular physical examination. She had no family history of lung cancer. In March 2017, a tissue biopsy showed lung adenocarcinoma that was TTF-1+, CK7+, CK5-. Similar to Case 1, this patient's tissue biopsy was inadequate for NGS testing, and peripheral blood samples were sent for NGS liquid biopsy. A somatic PTCH1 (NM_000264.3 c.2321G>T, p.G774V) mutation was detected in ctDNA with a VAF of 0.005. A germline heterozygous nonsense mutation was identified in PMS2 (NM_000535.5, c.943C>T, p.R315*, Clinvar ID: 91382) (). This particular variant has been reported in individuals affected with Lynch syndrome and colon cancer (–), and we diagnosed the patient with Lynch syndrome. IHC was performed for MSH2, MSH6, MLH1, and PMS2, and all four proteins showed intact expression (). PCR-based MSI testing of the tissue revealed the tumor was MSS (). As no actionable somatic mutations were identified and TMB was low, the patient initially refused chemotherapy, and gefitinib was tried as first line therapy for 2 months with the best response of stable disease. The patient then switched to platinum based chemotherapy. The patient was referred to genetic counseling, where her sister and son underwent germline genetic testing for the PMS2 p.R315* mutation. Her sister did not have the pathogenic mutation. However, this germline mutation was found in her son (). |
pmc-6607934-1 | A 64-year-old Japanese man visited our outpatient clinic with a 3-months history of an easily bleeding, black nodule on his back. At the initial physical examination, a black nodule (8 × 7 cm) with a dark-red nodule was seen on the back (). In addition, there were numerous subcutaneous nodules on the scalp, face, trunk, and extremities. Biopsy of the primary tumor showed markedly atypical melanocytes arranged in irregular nests and solitary units (). The THxID kit revealed that the primary tumor possessed the BRAFV600E mutation. Immunohistochemical staining showed that these melanoma cells were positive for Melan A and HMB45. PET-CT showed multiple lung (), cutaneous, pharyngeal, and peritoneal nodules, as well as lymph node and bone metastases (). Biopsy from the pharyngeal wall showed dense infiltration of markedly atypical melanocytes. In addition, serum LDH levels were elevated (336 U/l). From the above findings, the diagnosis was malignant melanoma with multiple lung, peritoneal, pharyngeal, subcutaneous, lymph node, and bone metastases [pT4bN3cM1c(1) stage IV]. |
pmc-6607960-1 | A 69-year-old female was referred to our clinic for an incidental finding of a large Morgagni hernia found on a recent CT chest scan for lung cancer screening. Patient reported occasional shortness of breath after prolonged ambulation but denied chest pain. She did have remote history of acid reflux symptoms but nothing recently. She denied issues with prematurity or issues with development as an infant, chest trauma, or MVA history. She did complain of occasional right shoulder pain but attributed this to arthritis. Denied history of heart attack, stroke, DVT, or PE. She had a 30-pack-year smoking history but quit a year prior. She was up-to-date on her colonoscopy, current within the past year. She denied hematochezia and melena, bowel habit changes or major body weight changes as well as any current abdominal pain. On examination her vitals were within normal parameters. Heart and lungs were unremarkable. Abdominal examination was soft with normal bowel sounds and nontender. Remainder of examination was unremarkable. Laboratory values included a normal CBC and BMP. A CT chest scan had demonstrated a large retroxyphoid hernia of Morgagni involving several loops of small bowel and transverse colon located in the right inferior hemithorax (Figs and ). No evidence of acute incarceration or strangulation were noted. A detailed discussion was undertaken with the patient regarding her hernia and she was consented for a laparoscopic repair with mesh.
Patient underwent a laparoscopic approach in lithotomy positioning with the primary surgeon working between the legs. Three working ports were used, a 12 mm port at the umbilicus and two 5 mm ports; one in the LUQ and one in the RUQ. Upon initial laparoscopy multiple loops of small bowel were progressively reduced out of the hernia sac which also included the ascending colon and part of the transverse colon (Figs and ). All the small bowel and the colon appeared viable. The redundant parietal peritoneal hernia sac was excised out of the right inferior hemithorax utilizing a LigaSure (Covidien) (Fig. ). The falciform ligament was also taken down all the way to the diaphragm. The defect in the diaphragm measured to be approximately 9 cm by 4 cm. A section of Pariatex composite mesh was then trimmed to 2 cm in width by 9 cm in length. Three stay sutures of 0 Ethibond were placed laterally and in the middle of the mesh. This was placed into the peritoneal cavity after soaking it in vancomycin with local anesthetic. The sutures were then percutaneously brought through the diaphragm edge that was unattached to the anterior abdominal wall and then subsequently through the anterior abdominal wall. These were then tied thereby re-approximating the unattached edge of the diaphragm to the anterior abdominal wall near the xiphoid (Fig. ). Additional 0 Ethibond sutures were placed in between these initial ones percutaneously with a suture passer.
Additionally, another Pariatex composite mesh was then trimmed to 12 cm in width by 9 cm, soaked in vancomycin with local anesthetic and then placed into the abdominal cavity. It was positioned over the area of the repair and fixed into place with absorbable tacks around its caudad edge and centrally. Along the cephalad edge it was fixed with a running V-lock absorbable suture to the diaphragm. Fibrin glue was placed along this same edge (Fig. ). The ports were removed and incisions were closed.
Patient’s postoperative course progressed well. She was monitored overnight and discharged the following day. She was seen for follow-up in 2 weeks out of surgery and did quite well. She was tolerating a regular diet and having bowel movements. A month after surgery another CT scan was obtained which demonstrated a postoperative seroma in the right inferior hemithorax (Fig. ). Currently, the patient is to be seen in a 6-month follow-up to have another CT scan at that time. |
pmc-6608687-1 | A 68-year-old woman had a laparoscopic distal pancreatectomy for multifocal IPMN-mixed type with two foci of high-grade dysplasia detected on final pathology analysis (). Surgical margins were negative. The patient's remnant pancreas continued to be monitored semiannually through cross-sectional studies and intermittent endoscopic ultrasound (EUS) and fine-needle aspiration (FNA). Eight years from the date of the first surgery, the patient was still symptomatic with intermittent twinges of discomfort in her left upper abdominal quadrant. Although her physical examination was unremarkable, her work-up did reveal an elevation in CA19-9 level from 35 to 44 μ/mL. Magnetic resonance cholangiopancreatography (MRCP) disclosed a newly developed internal enhancement of a 14 mm branch duct cystic dilation adjacent to the distal end (). Upper endoscopy with esophagogastroduodenoscopy/FNA of the pancreatic cyst yielded cells consistent with high-grade atypia. She underwent surgical resection of the neck/body of the pancreas, and surgical pathology analysis revealed an invasive well-differentiated adenocarcinoma (stage 1B) of mixed-type IPMN with evidence of chronic pancreatitis. The patient completed 6 months of gemcitabine adjuvant chemotherapy and is still alive 4 years from the time of the second surgery. She was offered completion pancreatectomy but deferred. |
pmc-6608687-2 | A 49-year-old woman presented with moderately severe pancreatitis. She required three hospitalizations. This was traumatic in etiology as she was kicked by a horse. The patient experienced multiple complications including thromboembolic events and a pancreaticopleural fistula. Owing to escalation of symptoms and failure to thrive, she presented to medical attention, and a distal pancreatectomy was pursued. Surgical pathology analysis revealed multifocal high-grade dysplasia PanIN-3, with evidence of chronic pancreatitis in the specimen (). Three foci of high-grade dysplasia were observed; surgical margins were negative. Based on remembering Case 1, a multidisciplinary team was assembled, which included consultation with a world-renowned pancreatic pathologist. Completion pancreatectomy was offered, but the consultant and team's recommendations were close surveillance. Semiannual surveillance ensued. Unbeknownst to her physicians, the patient developed symptoms of pancreatitis within 6 months of her initial surgery but the patient did not complain or present to medical attention. The patient attributed her symptoms (i.e., back pain) to her occupation. Two years from the time of surgery, a surveillance computed tomography (CT) scan disclosed a newly developed low-density lesion in the head of the pancreas measuring ∼1 cm as well as an isolated liver metastasis; the two lesions were proven to be adenocarcinoma on biopsy. |
pmc-6608687-3 | A 55-year-old woman was referred to our clinic for further management after having had a Whipple procedure elsewhere for chronic pancreatitis. The specimen demonstrated multifocal PanIN-3 with evidence of chronic pancreatitis in the background. Four foci of high-grade dysplasia were observed; surgical margins were negative. The patient was symptomatic with intermittent epigastric pain radiating to the back, which was thought to be related to pancreatitis. The pain was severe enough to affect her daily activities, resulting in a chronic narcotic-dependent status and hospitalizations for pain control. Recent outside CT imaging confirmed changes compatible with chronic pancreatitis in the remnant pancreas, as well as the presence of a retained pancreatic stent thought to be partially contributing to her pain. Her family history is significant for pancreatic cancer, her sister developing it in her 60s. Owing to her symptomatology, the retained stent, significant family history, the initial surgical pathology report, and our experience with the mentioned two cases, completion pancreatectomy was recommended and pursued. Final pathology report disclosed the presence of multifocal PanIN-3 in the setting of pancreatitis. |
pmc-6609274-1 | The reported patient is a 68-year-old white female seen in the preoperative evaluation clinic for planned multiple toe amputations and tenotomies of the right foot due to osteomyelitis. The patient’s medical history included chronic pain syndrome as a consequence of secondary erythromelalgia. She also presented with a history of severe pain in her bilateral hands and feet, as well as a history of marked erythema of the palms of her hands and soles of her feet.
Other medical conditions included gastroesophageal reflux disease (GERD), chronic low back pain, previous atrial fibrillation episodes, and large and small fiber peripheral neuropathy of unknown etiology, causing occasional wrist drop. The chronic (several years) pain with more recent (three to four years) swelling and painful erythema of both feet prompted her to seek multiple medical consults several years ago. This led to bone marrow biopsy with a suspicion of erythromelalgia, which indicated mildly hypercellular bone marrow (70%) with maturing trilineage hematopoiesis, including minimal, normoblastic erythroid hyperplasia. The cytogenetic results, including fluorescence in situ hybridization assay, BCR/ABL1 gene sequence, and JAK gene V617F mutation studies, were all negative. The hematologic profile from peripheral blood indicated persistent anemia with an elevated red cell distribution width but a normal platelet number. The hematology consultant diagnosed the patient condition (in connection with clinical symptoms) as secondary erythromelalgia.
Because of the intractable chronic pain, the patient’s medication list included multiple medications associated with pain treatment consisting of oxycodone (40-60 mg daily), tramadol (200 mg daily), pregabalin (300 mg daily), nortriptyline (100 mg daily), aspirin (325 mg daily), ibuprofen 800 mg daily, and mexiletine (600 mg daily). In addition, the patient applied four daily patches of 5% topical lidocaine to the feet for 12 hours.
Due to the patient’s extensive history of intractable pain (including exacerbation of pain symptoms postoperatively with previous surgeries), we discussed the combined regional anesthesia, with general anesthesia as the anesthetic technique. For general anesthesia, the patient was preoxygenated and thereafter induced with propofol (150 mg) and ketamine (30 mg) administered intravenously. Intubation was facilitated with rocuronium and anesthesia was maintained with sevoflurane and a total of 150 mcg of fentanyl. No opioid narcotics or other analgesics were used intraoperatively. After 1.5 hours of an uneventful procedure, the patient was reversed, extubated, and transferred to the post-anesthesia care unit (PACU). Before emergence from anesthesia (secondary to the patient's refusal to place the block preoperatively), a peripheral nerve catheter (Pajunk E-Cath, Pajunk Medical Systems, Norcross, GA, US) was inserted perineurally at the right popliteal nerve using real-time ultrasound-guided visualization, followed by a bolus injection of 20 cc of 0.5% ropivacaine. An infusion of 0.2% ropivacaine was started after the initial bolus of local anesthetics. The infusion was delivered by an ambulatory infusion pump (Nimbus II PainPro, Infutronix Solutios LLC, Natick, MA, US) at 6 mL/hr. The patient required 15 mg PO oxycodone in the PACU and was discharged the same day with minimal pain (2/10 numerical pain score). The follow-up call the next day revealed that the patient was satisfied with her pain management (pain 5/10 on the numeric scale) and was instructed to continue infusion until the pump reservoir became empty. No additional complaints about worsening neurological status were obtained the next day or on a subsequent follow-up visit six weeks after the procedure.
Genotyping
Because of the patient’s history of erythromelalgia with an uncertain origin, we performed post hoc sequencing and genetic analysis of the total exome by next-generation sequencing. Blood deoxyribonucleic acid (DNA) was extracted, purified, and exome captured using the Agilent SureSelect Human All Exon V6 Kit (Agilent Technologies, CA, US). The whole exome sequencing strategy involved the creation of the 180-280 bp insert DNA library and sequencing on the HighSeq Illumina sequencer platform (Illumina, San Diego, CA, US) with an effective sequencing depth above 100×. The digital analysis pipeline of the raw data involved quality control and subsequent GATK-recommended strategy consisting of alignment sequence data (consisting of FASTQ files) with the reference genome (Hg19 and b37) using the GATK-Lite Variant Caller (Unified Genotyper from the GATK-like toolkit ver. 2.3; ), and run on DNAnexus platform (/). This application calls SNPs and/or indels in the input sequence files, which were further annotated with wANNOVAR (). In addition, the presence of complex variant and copy number variants of the exome was further examined using Freebayes variant caller and CVNator on the same DNAnexus platform [-]. The presence of two alleles for this SNP in the investigated DNA sample was further verified employing the real-time TaqMan real-time polymerase chain reaction (PCR) method using the commercial kit (C_29261054_10) from ThermoFisher Scientific (Waltham, MA, US), according to the manufacturer's instructions.
The results of the analysis focused on the exonic loci for the sodium-channel genes, especially the SCN9A gene, which are listed in Table . We identified 19 SNPs (nine nonsynonymous and 10 synonymous) in the loci containing voltage-gated sodium channel genes SCN1A - SCN11A, all present in the most current dbSNP database. We did not observe any of the previously reported mutations associated with erythromelalgia [-]. We noticed, however, that the patient was a homozygous carrier of missense and potentially damaging polymorphism rs6746030 in SCN9A, which was verified by the independent real-time TaqMan real-time PCR assay. All other SNPs in the investigated channels were either synonymous or were classified as benign. |
pmc-6609276-1 | The patient was an 82-year-old male who was scheduled for a robotic left lower lobectomy for the resection of a biopsy-proven squamous cell lung carcinoma. He had a medical history of hypertension controlled with multiple medications; a 40-pack-year history of tobacco abuse, with a 20-year history of abstinence; and a prior history of melanoma of his left upper extremity, which was successfully resected.
Standard American Society of Anesthesiology (ASA) monitors were placed and preoxygenation was performed; general anesthesia was induced with propofol, followed by the administration of muscle relaxant and the placement of a left-sided, double-lumen endotracheal tube. Additional venous access and arterial line placement occurred concurrently while the correct placement of the endotracheal tube was confirmed by bronchoscopy. The placement was then reconfirmed after the patient was situated in the right lateral decubitus position. The left lung was isolated and deflated, and the surgeon proceeded to place ports to facilitate the robotic resection as follows: the sixth intercostal space in the anterior axillary line, the third intercostal space in the anterior axillary line, and the ninth intercostal space in the posterior axillary line. The surgical procedure continued uneventfully from an anesthesia perspective with level 7 and 10 lymph node dissections, extensive lysis of adhesions and pericardial and pleural fat to facilitate visualization, and a left lower lobectomy. Surgical blood loss was estimated at less than 50 cc. Chest tubes were placed through the sixth and ninth intercostal port incisions. A bolus of 30 cc of 0.5% bupivacaine was administered via a catheter placed at the tenth intercostal space in the posterior axillary line for an elastomeric pump ball to infuse local anesthesia for post-operative pain management. Within 15 minutes of this, the patient began to experience hypotension, requiring incrementally increasing doses of vasopressors. Over the course of 10 minutes, escalating doses of phenylephrine were becoming ineffective at restoring the patient’s mean arterial pressures (MAP) to his intraoperative baseline (within 20% of the patient’s preoperative MAP). Vasopressin was administered, in 1-2 mg aliquots, as urgent assistance was summoned to the operating room. The hemodynamic instability was immediately reported to the surgeon. Based on the scant chest tube drainage, a thoracic source of bleeding was considered unlikely. A portable chest radiograph was ordered and point-of-care blood testing was performed. The hemoglobin was resulted at 6.5 g/dL, and transfusion was initiated while awaiting a confirmatory hemoglobin sent to the lab, which was resulted at 7.4 g/dL (preoperative hemoglobin 13. 5 g/dL). The chest radiograph did not show any areas suspicious for bleeding. The double-lumen endotracheal tube was removed and replaced with a single-lumen endotracheal tube to facilitate transport and the potential for prolonged mechanical ventilation, and the patient was transported urgently to the computed tomography (CT) scanner for chest, abdomen, and pelvis imaging. Upon review with the radiologist, the diagnosis was made of a subcapsular splenic hematoma with fluid extending to the diaphragm and tracking along the paracolic gutters, concerning for a splenic injury (Figure ).
The patient was then returned to the recovery room, where he continued to require ongoing blood transfusion and phenylephrine infusion to maintain satisfactory blood pressures. After receiving a total of four units of packed red blood cells, the phenylephrine infusion was able to be weaned significantly and serial hemoglobin values stabilized. Although both splenectomy and splenic embolization were considered in this patient, as his hemodynamic instability abated, the decision was made to observe him in the intensive care unit and to continue serial hemoglobin monitoring. On the first postoperative day (POD), he was weaned completely off of phenylephrine and was extubated. He was discharged to a rehabilitation facility on POD 15. |
pmc-6609277-1 | An 87-year-old male with a past medical history significant for a Bosniak class 2F renal mass found incidentally in 2015 and a two-month history of pain, tingling, and numbness of the left cheek presented to the emergency department with worsening weakness and dyspnea on exertion. Two months prior to this visit, the patient was seen at an outpatient neurology clinic for numbness of the eye and lip and lancing pain to the jaw.
In the emergency department, the patient underwent a chest X-ray (Figure ) which revealed a left-sided pleural effusion. A follow-up computed tomography (CT) scan (Figure ) showed mediastinal adenopathy and numerous spiculated lesions in the lung which were concerning for malignancy considering the patient's history of a renal mass. A thoracentesis was performed, and the pleural fluid cytology revealed atypical cells that stained positive for PAX8 and negative for B72.3 and MOC31, consistent with cells of renal origin.
Given this finding and the patient's recent symptoms of facial pain, numbness, and tingling, the patient underwent magnetic resonance imaging (MRI) of the brain. The MRI revealed a large left anterior temporal and lateral wall enhancing mass measuring 4.3 cm (Figure ). After comparing it with the patient’s previous orbital MRI from 2014 (Figure ), the mass was thought to be a result of metastasis. The patient soon developed pain with extraocular movements and ultimately opted for palliative radiation. |
pmc-6609278-1 | An 11-year-old, previously well, vaccinated male child was admitted in the pediatric ward of Dr. Ruth KM Pfau, Civil Hospital Karachi (CHK) with a two-day history of fever, cough, and abdominal distension followed by respiratory distress. His illness started seven months earlier with the eruption of pruritic, blistering rashes all over the body accompanied by a pussy discharge. At the time of onset, the rash was associated with low-grade fever, skin hyperpigmentation, oral ulcers and joint pains without any swelling or movement restriction. The rash usually appeared in successive generations on the sun-exposed regions progressing into a darkly pigmented scar over a period of one week. He consulted various doctors and was even hospitalized once for the rash but showed only temporary improvement to intravenous antibiotics and prednisolone. On examination, he showed obvious signs of respiratory distress with a respiratory rate of 40 breaths/min and a heart rate of 90 beats/min. Examination of the chest revealed signs consistent with left-sided LP. In addition, he had a scaly rash with occasional targetoid lesions all over the body associated with peeling of the skin (Figure ), ruptured blisters, loss of fingernails (Figure ) and sparse, brittle and depigmented hairs. He had hepatomegaly with a liver span of 15 cm and signs of free fluid in the abdomen.
The initial differential diagnosis for the skin rashes and nail dystrophy included SLE, mixed connective tissue disorders, hypohidrotic ectodermal dysplasia, and dyskeratosis congenita. On investigation, a full blood count showed moderate hypochromic, microcytic anaemia with haemoglobin of 8 g/dL. Raised erythrocyte sedimentation rate (ESR) of 98 mm/1st hr and raised C-reactive protein of 7.9 (<5 mg/L) were suggestive of inflammation. Serology revealed positive antinuclear antibody (ANA) and positive anti-double-stranded DNA (anti-ds DNA), both suggestive of SLE. Direct Coombs test was also positive. Urine DR showed protein ++, red cell casts and granular casts, which along with an increased ratio of spot urinary protein to creatinine of 4.5, suggesting glomerular involvement. Serum C3 and C4 levels were low, measuring 31 mg/dL (88-252 mg/dL) and 8 mg/dL (12-72 mg/dL), respectively, supporting the diagnosis of SLE. Renal and liver function tests were normal except for low serum albumin. Computed tomography (CT) scan of the abdomen confirmed hepatomegaly with marked ascites. X-ray chest showed right-sided LP (Figure ). CT chest revealed bilateral multifocal multi-segmental ground glass haze along with multiple enlarged cervical, pretracheal and carinal lymph nodes, and bilateral mild pleural effusion, extending in the oblique fissure suggestive of active pulmonary infection.
Extractable nuclear antigen (ENA) panel revealed a negative anti-Scl-70, negative anti-Jo-1, a negative anti-La (SS-B), positive anti-ribonucleoprotien (RNP), positive anti-Smith (Sm) and a strongly positive anti-Ro (SS-A) antibodies, findings being consistent with the diagnosis of RS. We proceeded with the skin biopsy which revealed interface dermatitis showing lymphocytes and keratinocytes in the epidermis, supporting the diagnosis of erythema multiforme. A diagnosis of RS with lupus nephritis and LP was established based on the clinical manifestations and positive immune-chemistry. The patient was treated with methylprednisolone initially followed by oral prednisolone, azathioprine, naproxen and hydroxychloroquine on the advice of pediatric rheumatologist and antibiotics for pulmonary infection. His rashes improved and proteinuria resolved over a period of two weeks. The patient is under regular follow-up with no recurrence of skin lesions or pneumonia. |
pmc-6609280-1 | A 66-year-old Caucasian female with a history of bipolar disorder, maintained on lithium therapy for two years, presented to our practice for hypercalcemia. Review of systems was negative for bone pain, abdominal pain, and any psychiatric findings. Her total serum calcium (after correction) was found to be 11.58 mg/dl, ionized calcium was found to be 6.2 mg/dl, and parathyroid hormone (PTH) was found to be elevated at 100 pg/ml. Bone density was normal. The parathyroid scan showed a functioning, 2 cm, right parathyroid adenoma and she underwent a right parathyroidectomy. Postoperatively, her PTH levels returned to normal. Six months postoperatively, routine blood work found elevated serum calcium levels. A repeat parathyroid scan showed increased uptake in the left parathyroid lobe consistent with a parathyroid adenoma (Figure ).
The patient underwent a second parathyroidectomy of the left parathyroid gland. Her postoperative PTH levels were within normal limits. It was concluded that lithium was the contributing factor to parathyroid adenomas casing hyperparathyroidism. Lithium therapy was discontinued under the guidance of a psychiatrist. At the six-month follow-up, her PTH and calcium levels were found to be within normal limits. |
pmc-6609283-1 | An 11-year-old boy presented to the emergency room with pain and swelling over his dominant left ring finger after a fall from a flight of stairs with no open wound. X-rays showed dorsal dislocation of the DIP joint of the left ring finger. Multiple attempts of closed reduction were unsuccessful and he was referred to the Hand and Microsurgery unit for further management, but the patient presented to our clinic only two weeks later.
On examination, the DIP joint of left ring finger was swollen and tender. He was unable to flex or extend the DIP joint with normal movements over the metacarpophalangeal and proximal interphalangeal joints. Neurovascular status of the left ring finger was normal. Repeated radiographic assessment of the left ring finger revealed dorsal dislocation of the distal phalanx with no fracture seen (Figure ). No further attempt of closed reduction was made and he was subjected for surgery after informed consent was obtained from his parents.
He underwent open reduction and k-wire fixation of the left ring finger DIP joint via volar approach (Figure ). Intra-operatively, the flexor digitorum profundus (FDP) tendon was intact and not displaced (Figure ). Volar plate was avulsed from its proximal attachment and trapped in between the distal phalanx and head of the middle phalanx (Figure ). The DIP joint was reduced successfully after reposition of the volar plate. The volar plate was not repaired because the joint was stable, but it was immobilized in a slightly flexed position (10 to 15o) with a 0.039-inch K-wire (Figure ).
The K-wire was removed eight weeks after the surgery. Active and passive range of motion exercises were then started. Follow-up at 12 months revealed full range of motion of the left ring finger DIP joint with no residual pain or instability (Figure ). |
pmc-6609285-1 | A 72-year-old Caucasian female with a history of congenital right eye blindness, hypertension and anxiety was brought to the emergency department (ED) after a motor vehicle collision (MVC) secondary to her sudden onset of impaired awareness.
The patient had a sudden loss of awareness while driving, witnessed by her husband who was sitting in the passenger seat. She crossed several lanes and sideswiped and hit two cars before coming to a stop. The patient was totally amnestic regarding the event and was unaware of her course to the ED. History was negative for fecal and urinary incontinence, alcohol consumption, illicit drug use and recent head injuries. The family provided a recent three-month history of sporadic episodes of confusion that lasted for less than a minute each. During these episodes, the patient would suddenly become unaware of her surroundings, turn pale and stare into space or display inappropriate behaviors such as getting up from her seat during dinner and spitting her food into a vase. Resolution to baseline was spontaneous, but with no recollection of the event. The patient was intermittently alert and disoriented at the time of examination with flat affect, no spontaneous speech and unsteady gait. The rest of the neurological exam was normal.
Similar seizure occurrences were repeated during the ED and intensive care unit (ICU) stay and the patient received Keppra for seizure prophylaxis. Continuous EEG monitoring at this time was interpreted as background slowing compatible with a mild encephalopathic picture but no clear focal slowing or no electroclinical seizures.
Her cognitive decline was noted with a Montreal cognitive assessment (MOCA) score of 18, showing difficulties in areas of executive functioning, delayed recall, orientation, and abstraction. Brain magnetic resonance imaging (MRI) revealed no acute process. The patient was discharged on the 6th day of illness (DOI #6) after a negative workup with recommendations to do outpatient CSF studies and follow up with outpatient neurology. The patient was stable upon discharge.
On the 27th day of illness (DOI #27), the patient was readmitted to the hospital for continuing deteriorating mental status and increased frequency of staring episodes up to 28 times per day. The patient exhibited a baseline decline in cognitive function and personality changes. During this admission, her outpatient CSF workup results revealed an elevated white blood cell count at 9/mL with an elevated neutrophil and macrophage level at 34% and 4%, a high 14-3-3 protein level at 8.0 ng/mL and four well defined gamma restriction bands. At this time, her differential diagnosis was broadened with a concern for possible Creutzfeldt-Jakob disease (CJD) and herpes simplex encephalitis, and the patient was empirically treated with acyclovir. Repeat CSF studies done during this admission including an autoimmune profile, West Nile virus, herpes simplex virus 1 (HSV 1) and HSV 2, immunofixation electrophoresis, neuron specific enolase, rheumatoid factor (RF), antinuclear antibody (ANA) comprehensive panel, erythrocyte sedimentation rate (ESR), rapid plasma reagin (RPR) and venereal disease research laboratory (VDRL), Vitamin D, anti-neutrophil cytoplasmic antibody (ANCA) vasculitides antibodies, paraneoplastic profile of the serum and CSF all came back within normal limits.
Interestingly, during this time the patient also had an increased appetite with fixation on sweet products, decreased short-term memory, ataxia, mild postural kinetic tremor bilaterally and exhibited obsessive behaviors such as continuously picking at her teeth and fingers. Keppra 500 mg twice a day was continued for seizure prophylaxis. A repeat brain MRI revealed symmetrical signal abnormality with swelling of hippocampi and right mesial temporal lobe, subtle T2 FLAIR signal abnormality, low-level restricted diffusion along the insular cortex, without associated contrast enhancement or hemorrhage, consistent with temporal pathology (Figure ). The EEG record from previous hospitalization was re-evaluated by the attending neurophysiologist and revealed previously unseen focal discharge and seizure from the left temporal region (Figure ). A repeat EEG during the second hospitalization was abnormal for slower background and generalized intermittent rhythmic slowing consistent with an encephalopathic picture, but the previously seen left temporal origin epileptiform discharges and electrographic seizures were not seen.
At this point, autoimmune LE and prion disease were still in the differential. Given her lack of improvement, it was deemed necessary to treat a reversible etiology like autoimmune LE vs. prion disease, the latter of which is irreversible. Pulsatile intravenous (IV) solumedrol, a high dose steroid, was started daily for five days. The patient showed marked improvements on steroids, with resolution of faciobrachial seizures on day 5 of this second admission (DOI #31) and improvement of mental function. She returned near baseline, with some passive lethargic behavior persisting.
Of note, during this hospitalization, the patient also had hyponatremia, initially 124 mEq/L that increased to 133 mEq/L after water restriction and 1 g of NaCl tablet. The patient was discharged on oral prednisone 60 mg and a H2 blocker for six weeks with plans for a repeat brain MRI after which a steroid taper would be started.
CSF started and performed by Mayo Clinic on DOI #21, returned positive on DOI #32 with antibodies specific for anti-LGI1 autoimmune LE.
The following year, at an outpatient visit with the neurology team, after she had been tapered off steroids, it was noted that she was having worsening of her memory concerning for regression, for which she was readmitted a third time. Repeat CSF at that time again showed anti-LGI1 antibodies, confirming relapse. At this time, she received five days of intravenous immunoglobulin (IVIG) and pulse steroids, which showed mild improvement, though she still exhibited mild expressive aphasia and recall difficulties. At this point, she was started on 1 gram of IV rituximab. At another outpatient follow-up, the patient and family endorsed dramatic improvement of cognitive function after the start of rituximab therapy and no continued AMS experiences. |
pmc-6609288-1 | A 59-year-old male presented with a history of stroke and diagnosed with streptococcus mitis-oralis endocarditis caused by a recent tooth infection. The patient had an infected mitral valve with vegetations on both leaflets and was treated with intravenous antibiotics but later developed rapid atrial flutter, tachycardia, and mitral valve regurgitation. The condition was severe enough for the patient to undergo a mitral valve replacement.
At the start of the procedure, an aortic and bicaval venous cannulation was carried out and tapes were passed around the cannulae. The aorta was cross-clamped with a soft padded clamp. Cold blood cardioplegia was given to arrest the heart. Within 10 minutes after cross-clamping, central venous pressure rose from 5 mmHg to 30 mmHg which coincided with the application of the tapes to the SVC syndrome. Cerebral oximetry values decreased significantly from pre-pump values of 67% in the left and 61% in the right to 44% in the left and 45% in the right shortly after the patient was placed on cardiopulmonary bypass (CPB) machine. The perfusionist was alerted to these changes. There were no issues with the functionality of the CPB machine. The patient was noted to have spontaneous bleeding from the left ear. The examination was difficult because of the metal surgical shelf covering the patient’s head. The face and head were swollen, and conjunctival edema made the examination of the pupils difficult. However, they were determined to be small and reactive to light. SVC syndrome was diagnosed and the SVC cannula was noted to be displaced. Within minutes of repositioning it, the facial swelling resolved and the central venous pressure decreased to 5 mmHg. Cerebral/somatic oximetry increased to 52% on the left side and 58% on the right side. The bispectral index remained at 35-45 throughout the CPB. The surgical procedure ended uneventfully.
On admission to the intensive care unit, no acute bleeding was seen in either of the ears but dried blood was seen on external auditory meatus of the left ear. The patient was awakened soon after he was admitted to the surgical intensive care unit. No neurological deficits were noted. There was no further otorrhagia after surgery. Ear exams performed immediately after the surgery and again a week after the surgery showed minimal dried blood in the left ear. The tympanic membrane was intact. No fluid was noticed in the middle ear cleft. No erythema or edema was noticed in either of the ears. |
pmc-6609291-1 | A 21-year-old male with a past medical history of DMD, scoliosis with multiple back surgeries, failure to thrive and atrial fibrillation presented with abdominal pain and vomiting for two days. He was chronically constipated since the age of 15 years and had one to two bowel movements per month with no use of laxatives. On admission, the patient was afebrile, tachycardic with a heart rate of 148 beats per minute, hypotensive with a blood pressure of 89/55 mmHg, and tachypneic with a respiratory rate of 36/min. He was cachectic with severe muscle wasting and had dry mucous membranes. His body mass index (BMI) was 14.8 kg/m2. Physical exam showed a soft, non-tender, distended abdomen, with no guarding and rigidity. The patient presented with hypoactive bowel sounds and chronic muscle contractions in all the four extremities. Laboratory values showed leukocytosis 20300/µL (normal 4000-10,000/µL) with left shift (bands 22), hemoglobin 16.4 g/dL (normal 14-17 g/dL) and hematocrit 51.1% (normal 41%-51%), blood urea nitrogen (BUN) 31 mg/dL (normal 8-20 mg/dL), creatinine 0.40 mg/dL (normal 0.7-1.3 mg/dL), mild elevation of aspartate aminotransferase (AST) 54 IU/L (normal 40-35 U/L), prothrombin time (PT) 14s (normal 11-13 s), international normalized ratio (INR) 1.3 (normal <1.1), partial thromboplastin time (PTT) 32.3 (normal 25-35 s) and normal albumin 4.7 g/dL (normal 3.5-5.5 g/dL). He was severely intravascular volume-depleted as per physical exam and laboratory values. He received aggressive fluid resuscitation with Ringer’s lactate.
Computed tomography (CT) scan of the abdomen and pelvis with contrast showed massive gastric distention with the stomach extending down to the low pelvis, and dilatation of the proximal duodenum to the level of the midline/superior mesenteric artery (SMA) (Figures -).
Since aorto-mesenteric distance (AMD) was less than 1 cm, a working diagnosis of SMA syndrome was made. Upon placement of a nasogastric tube, three liters of gastric bilious contents were evacuated. He was started on lactulose and was given a fleet of enemas with manual disimpaction to help him have bowel movements. Esophagogastroduodenoscopy showed ulcers in the anterior wall and greater curvature of the stomach body, with a normal duodenal bulb and the second/third part of the duodenum. No strictures were visualized during the procedure. CT angiography of the abdomen showed interval resolution of gastric and duodenal distention, ruling out SMA syndrome. The patient’s gastric distention resolved with conservative measures without any need of surgical intervention (Figure ). |
pmc-6609295-1 | A 52-year-old female with no past medical or surgical history presented to our emergency room with two days history of abdominal pain, nausea, vomiting and obstipation. The patient had a distended abdomen, discomfort on deep palpation, with no peritoneal signs. Her white blood cell count was mildly elevated and low potassium was replaced. Computed tomography was concerning for small bowel obstruction (Figure ).
The patient was admitted to the hospital and small bowel follow-through the following day revealed moderate distention of the stomach, multiple distended small bowel loops and no evidence of contrast in the cecum at 14 hours consistent with small bowel obstruction (Figure ).
The patient was taken to the operating room, and exploratory laparotomy with retrieval of a foreign body via an enterotomy was performed (Figure ).
The patient recalled ingesting pineapple core as a source of fiber the day prior to her symptoms. She did well and was discharged from the hospital. |
pmc-6609303-1 | A 37-year old female presented to the neurology clinic with a seven-day history of diffuse, persistent, and bilateral headache not improving with analgesics. There was no history of fever, loss of consciousness, blurring of vision, or gait abnormality. The patient was a known epileptic and was compliant with her anti-epileptic medication. On examination, her Glasgow Coma Scale (GCS) was 15/15, with normal speech and comprehension. She was afebrile and hemodynamically stable. Her cranial nerves examination was normal, except for right optic disc edema. The sensorimotor and systemic examination was unremarkable.
The patient was admitted to Shifa International Hospital, Islamabad, for further workup and management. Magnetic resonance imaging (MRI) of the brain (Figures -) and magnetic resonance venography (MRV) (Figures -) were normal.
Lumbar puncture revealed a CSF opening pressure of 280 mm of water and a white cell count of 241, with 90% lymphocytes and 10% neutrophils. CSF proteins and glucose were only mildly deranged (Table ). All baseline investigations, including complete blood counts (CBC), erythrocyte sedimentation rate (ESR), and serum electrolytes, were unremarkable. Extensive testing for etiologies such as human immunodeficiency virus (HIV) serology, rapid plasma reagin (RPR), Treponema pallidum haemagglutination (TPHA), anti-neutrophil antibody (ANA) profile, and thyroid stimulating hormone (TSH) and serum angiotensin converting enzyme (ACE) levels did not unveil a causative pathology.
The patient was started on intravenous (IV) antibiotics and IV acyclovir for a presumptive diagnosis of meningoencephalitis. She improved with treatment and was discharged home after five days on IV antibiotics and antiviral to complete the rest of the course at home.
However, the patient returned after one week with double vision and blurring in both eyes. Examination revealed bilateral sixth nerve palsies and bilateral optic disc edema with left fundal hemorrhages (Figures -). The rest of the neurological examination was normal. Systemic examination was unremarkable. Her spinal tap was repeated and CSF had an opening pressure of 500 mm of water and a white cell count of 48 with normal proteins and glucose. Thirty-five milliliters of CSF was drained, and the patient was started on oral acetazolamide and topiramate. The patient was also referred to neurosurgery for ventriculoperitoneal shunting but declined surgery.
On follow-up after 10 days, the patient manifested some improvement in vision and diplopia. On examination, her ocular movements were normal, however, with persistent bilateral optic disc swelling and left fundal hemorrhages. On this instance, the patient’s CSF pressure was 40 mm of water and white cell count of 95, predominantly lymphocytes (90%) with normal CSF glucose and proteins (Table ). CSF gram staining, culture sensitivity, Mycobacterium tuberculosis polymerase chain reaction (MTB-PCR), serology for Cryptococcal antigen, and Indian ink staining for fungus were also negative.
She re-visited our outpatient clinic after nine days with static vision and considerable improvement in headache. On examination, her visual acuity was 6/12 in both eyes. Fundoscopy still showed bilateral papilloedema. The CSF examination was repeated and revealed an opening pressure of 200 mm of water and 78 white cells with normal proteins and glucose (Table ). Doses of acetazolamide and topiramate were increased and she was sent home with advice to return in case of visual deterioration.
The patient’s progress was tracked telephonically over the next three months and she reported improved vision. At the three-month follow-up visit, her visual acuity was 6/6 and fundal examination showed the complete resolution of hemorrhages and optic disc edema (Figures -). |
pmc-6609304-1 | A 74-year-old male patient applied to the emergency department because of a femur fracture. He was admitted to the orthopedics and traumatology department with an operation plan. The comorbidities of the patient were type 2 diabetes mellitus, hypertension, chronic obstructive pulmonary disease, and benign prostatic hyperplasia. His medications were benidipine hydrochloride 8 mg, theophylline, tamsulosin HCl 0.4 mg, ipratropium bromide monohydrate + salbutamol sulfate 20/100 mcg, formoterol + budesonide 12/200 mcg, tiotropium bromide monohydrate 18 mcg, salbutamol inhaler 2.5 mg, and metformin 1000 mg twice a day.
In the preoperative cardiology examination, the ejection fraction of the patient was evaluated as 60% and the left ventricular systolic function was normal. The hemoglobin level was 10.4 g/dL in laboratory blood tests, and no other abnormality was detected. The metformin treatment was stopped 24 hours before the operation. In the operating room, the patient underwent spinal anesthesia with 10 mg bupivacaine and 20 mcg fentanyl. The surgery lasted for 90 minutes. The patient had 150 ml hemorrhage and received saline 1000 ml infusion with 500 ml polyglycine. Hemodynamic values were stable throughout the operation and the patient was taken to the intensive care unit (ICU) for postoperative observation. The cardiac and respiratory examination of the patient was repeated in the ICU. Mild acidosis and hypoxia were detected in the admission arterial blood gas (ABG) examination (Table ). The patient's albumin level was 2 g/dL and human albumin 20% replacement treatment was applied. In the postoperative twelfth hour, metabolic acidosis with increased compensated anion clearance (30 mEq/L) was detected in the ABG analysis. The lactate level was within normal limits (Table ). Urea and creatinine values were normal in the control blood tests and the hourly urine output of the patient was above 0.5 ml/kg. The hourly blood glucose measurements were between 80 and 140 mg/dL within the first 12 hours. Since a hemoglobin level of 8.4g/dL was detected, the patient received a unit of erythrocyte suspension. Although a bolus dose of bicarbonate 8.4% was administered intravenously, metabolic acidosis and the severe base deficit of the patient did not improve. So, intravenous bicarbonate infusion was initiated. As no additional reason for the persistent metabolic acidosis was detected, metformin was thought to be the cause of the metabolic situation of the patient.
At the postoperative twenty-fourth hour, the patients' metabolic acidosis was resolved and the bicarbonate infusion was terminated. Although there was high anion-gap (AG) metabolic acidosis, the lactate level of the patient was within normal ranges during this period. The patient was discharged from the ICU on the postoperative third day.
Table shows the ABG values after admission to the ICU. |
pmc-6609309-1 | In 2006, a 38-year-old man was ejected from the bed of a pickup truck and transferred to a level one trauma center for the evaluation and treatment of a complex pelvic fracture. A suprapubic catheter was placed prior to transfer due to a suspected severe urethral injury. The patient had no significant past medical history.
On arrival, the patient was tachycardic but normotensive and oxygenating adequately on room air. The physical exam was pertinent for an unstable pelvis and a digital rectal exam that revealed a foreign body in the rectal vault. There was normal rectal tone. The remainder of the exam revealed lacerations to the bilateral lower extremities with ecchymoses to the bilateral hips. Computed tomography (CT) evaluation revealed an intraperitoneal bladder rupture, a complex pelvic fracture involving the right sacroiliac joint, a shattered right acetabulum, a complete right femoral neck fracture, and the femoral head lodged in the pelvis (Figure ).
The patient was taken to the operating room for an exploratory laparotomy and anoscopy. Anoscopy confirmed the femoral head was within the rectal vault with severe disruption of the right lateral rectum. The femoral head was removed from the rectum transanally, and the rectum was thoroughly irrigated. The bladder was repaired.
The rectum and perirectal space were noted to have significant hematoma and fecal contamination that communicated with the acetabular fracture. Intraoperatively, the patient became critically ill, and the procedure was abbreviated. A temporary abdominal closure was placed, and the patient was taken to the intensive care unit for resuscitation. The patient returned to the operating room in 24 hours for fecal diversion and further debridement, irrigation, and drainage of the right perirectal space. Despite daily operative washouts, right hip disarticulation was ultimately required to achieve adequate debridement and sepsis control. After prolonged hospitalization, the patient was transferred to a long-term care facility out of state, which was closer to his home. |
pmc-6609337-1 | A 43-year-old African American male was referred to the Gastroenterology clinic for a 12-month history of alternating diarrhea/constipation, intermittent sharp rectal pain, as well as a 6-week history of pencil-thin stool and staining with defecation. He denied any other constitutional symptoms such as fever, chills, weight loss, or fatigue. A diagnostic colonoscopy was attempted, but limited due to a severe anal stricture.
Computed Tomography (CT) and subsequent Magnetic Resonance Imaging (MRI) of the abdomen/pelvis showed a diffusely distended colon and dilated ileum concerning for ileus or enterocolitis, likely infectious or inflammatory in etiology (). Rectal exam under anesthesia was notable for a functional narrowing of the anus and two large ulcers at the posterior anal canal. Anal biopsies revealed granuloma formation and positive immunohistochemical staining for CMV. Ileocolonoscopy performed under sedation and monitored anesthesia care demonstrated extensive circumferential ulcerations and inflammation of the terminal ileum (TI) with endoscopically normal colon (). Nearly all TI biopsies were positive for scattered CMV-infected cells in a background of diffuse histopathologic effect and ulceration (). Unfortunately, a plasma CMV viral load was not checked during his admission as it was unlikely to change management at time; however it would have been useful to demonstrate extent of disease burden and response to treatment.
During his hospitalization, the patient had persistent, frequent bloody bowel movements associated with significant abdominal pain. On hospital day 2, the patient became septic, manifested by fever, tachycardia, tachypnea, leukocytosis of 20.82 x103, and an anion-gap metabolic acidosis. He was initially treated with empiric broad-spectrum antibiotics and fluid resuscitation. Blood cultures were drawn and later grew Pseudomonas aeruginosa and Eggerthella lenta, both enteric pathogens likely translocated from the bowel due to severe enterocolitis. A thorough workup for underlying immunodeficiency, including human immunodeficiency virus (HIV), quantitative immunoglobulins, flow cytometry for cluster of differentiation 4+ (CD4+), CD3+, CD8+, CD19+, and CD 56+ counts, was unremarkable.
Given the severity of illness, we had significant concerns about initiating immunosuppressive therapy for his Crohn's Disease in the setting active CMV infection. Given the unremarkable workup for underlying immunodeficiency, the infectious disease team recommended against antiviral therapy, in accordance with current guidelines []. However, these guidelines do not take into account the risk of beginning immunosuppressive therapy in the setting of severe, active CMV infection. Given the paucity of data available in the medical literature and the significant risk associated with iatrogenic immunodeficiency, the patient was started on valganciclovir 900mg by mouth twice daily for 21 days in addition to levofloxacin and metronidazole for his bacteremia. The patient clinically improved with initial broad-spectrum antibiotic treatment for his bacteremia and continued to experience improved gastrointestinal symptoms after initiation of antiviral therapy. Repeat ileocolonoscopy after completion of the 21-day curse of valganciclovir demonstrated marked improvement of ileitis. Biopsies of the TI, colon, and rectum were negative for continued CMV infection. The patient was then initiated on methotrexate and infliximab therapy for the treatment of newly diagnosed Crohn's Disease with good response on further outpatient follow-up. |
pmc-6609340-1 | A 21-year-old male with a history of one episode of right orchitis well treated with antibiotics two years ago presented to the urology outpatient department with a painless swelling of the right hemiscrotum without any associated other symptoms. Local examination revealed a palpable firm right testicular mass with atrophy of the whole testis. The left testis was palpated in the scrotum and is of normal size with no suspicious mass. His laboratory findings including Germ Cell Tumour serum markers were within the normal range (Alpha-fetoprotein (AFP): 0,86 μg/L, Beta human chorionic gonadotrophin (β-HCG) < 0,5 mIU/mL, and lactate dehydrogenase (LDH): 241 UI/ml).
Scrotal ultrasound () demonstrated a suspicious solid well-defined mass within the right epididymis, measuring 21 x 14 mm. The mass was slightly heterogeneous with hyperechoic appearance and regular smooth contour. Distinct from the lesion, the right testis appeared smaller in size measuring 23 x 12 x 15 mm. Imaging of the contralateral scrotum revealed no anomaly. A radical right orchiectomy was performed via an inguinal incision. Recovery was uneventful. The surgical specimen consisted of the right testis measuring 3.5x2.5x1 cm in size and of the spermatic cord measuring 5 cm in length. Sectioning of the specimen () revealed a single well circumscribed nodular tissue with multiple foci of hemorrhage. Microscopic examination of the nodular tissue () showed an admixture of mature lobulated adipose tissue and numerous dilated and thicken walled blood vessels with no signs of malignancies such as germ cell atypia or intraepithelial germ cell neoplasm. Thus a diagnosis of paratesticular angiolipoma was made. |
pmc-6609348-1 | A 33-year-old man ruptured his left Achilles tendon while playing soccer and underwent a primary tendon repair in June 2017. One month after the primary repair, the Achilles tendon re-ruptured and re-anastomosis of the tendon was performed. However, the procedure failed due to local infection and skin necrosis. He ultimately presented to our department for reconstructive surgery using a free flap 39 days after the initial injury (). Staphylococcus aureus were identified in bacterial culture results, patients were given by drip infusion 1g of cefazolin twice a day for after hospitalisation until 3 days after surgery.
We planned simultaneous reconstruction of the tendon and soft tissue defects using anterolateral thigh (ALT) and tensor fasciae latae (TFL) muscle chimeric flap using the lateral circumflex femoral system, skin coverage by an ALT flap, and Achilles tendon reconstruction using a TFL flap.
Surgical repair was performed 55 days after the primary rupture. The cutaneous perforator of the ALT flap was identified and marked on the skin preoperatively with a colour Doppler ultrasonography before the operation. Wide debridement resulted in a large combined Achilles tendon (7 cm long) and overlying skin defect (5.5 × 11 cm) (). The ALT flap with a 6.5 × 13 cm skin island without fascia and TFL musculofascial flap with an 11-cm length of iliotibial fascia were elevated from the right thigh ().
In this case, the descending branch of the lateral circumflex femoral artery (LCFA), the pedicle of the ALT flap, branched directly from the deep femoral artery or common femoral artery. As a result, the vascular pedicles of the ALT and TFL flaps were independent of each other. Therefore, the descending branch of the LCFA was anastomosed with the posterior tibialis vessels in an end-to-side fashion first, while the vascular pedicle of the TFL flap was anastomosed with the side branch of the descending branch of the LCFA in an end-to-end fashion.
After blood circulation was confirmed, the Achilles tendon reconstruction was performed by orthopaedic surgeons using Kirchmayer’s suture technique ().
Finally, the skin defect was covered with the ALT skin paddle ().
Ambulatory loading was commenced 3 weeks after surgery, and the patient could walk on his foot after 81 days of wearing an ankle brace. Six months postoperatively, he could stand on a toe of the operated foot without help (). Function at the ankle was good ( and he had no disability in his daily life. He was aesthetically satisfied with the results. |
pmc-6609362-1 | The patient was a 9-year-old boy with a history of recurrent episodes of local hair loss which was resolved within 1 to 2 months at the age of 5-6 years. The boy had never scratched his scalp or pulled his hair in front of his parents. Parents thought that the loss of the eyelashes was alopecia, and the boy was followed without receiving any treatment. No abnormalities had been detected in his hair or eyelashes at the age of 7-8 years after entering elementary school.
At the age of 9 years, his parents saw that the eyelashes of the boy were getting fewer but did not notice that he pulled out his eyelashes. His parents were concerned about their son's loss of his eyelashes and visited our hospital.
Our examination showed that there was a complete loss of eyelashes of the upper eyelid of both eyes (). His best-corrected visual acuity (BCVA) was 20/20 in both eyes, and his corneas were clear and did not stain with fluorescein. The anterior chamber, iris, and lens were normal. Funduscopy was within normal limits. The skin of the eyelids of both eyes were not swollen, scarred, or desquamated. The pull test of the eyelashes was negative along the edges where the eyelashes were absent and had a normal resistive response. Mycological examination of the eyelid skin was negative. These negative results of alopecia clearly confirmed the diagnosis of trichotillomania.
The mother reported that the boy had suffered from nightly nocturnal enuresis (bedwetting) all of his life, but the frequency was recently reduced to once or twice a month. However, the boy was scheduled to go on a school trip the following month, and the mother noticed that the boy had been depressed and had shown signs of avoiding school.
The boy told us that he had been concerned that his bed wetting might be revealed to his classmates during an overnight school trip. He stated that his stress was reduced by pulling out his eyelashes. We explained to the boy and his mother our diagnosis of trichotillomania and assured them that the condition could be resolved without medications. We suggested that a discussion be held among the parents, his school teacher, and school counselor about his bedwetting especially during the school trip.
One week after the school trip, the boy and mother visited our hospital and reported that no enuresis occurred during the school trip. The boy was followed without any special treatment. The mother reported that the child had not pulled out his eyelashes or hair after the consultation. With the parents' cooperation, the boy also developed control over his bladder during the night and have dry nights by age 10 years. |
pmc-6609735-1 | A 16-year-old male with unremarkable past medical or surgical history presented to the Emergency Department with progressively worsening abdominal pain and distention of 4 days’ duration. His vital signs were within normal limits. On physical examination, he had generalized abdominal tenderness and guarding of the abdomen. Laboratory findings were significant for an abnormally elevated white blood cell count of 24,900/mm3 but otherwise insignificant. A plain abdominal x-ray showed multiple air fluid levels. A computed tomographic scan showed a small amount of free fluid in the abdomen and dilated small bowel loops with evidence of ischemia (A and B). Based on this clinical presentation, the patient received an initial diagnosis of small intestinal obstruction and he was taken to the operating room. He was initially investigated with laparoscopy which revealed severe ischemic distal ileal segment. It was difficult to continue laparoscopically due to the severe small bowel dilatation (). We converted to a laparotomy and an ileocecectomy was performed (). During the procedure, approximately 20 cm of distal ileum was herniated through the superior ileocolic recess and were twisted along its mesentery. An ileocecectomy with a side to side primary anastomosis using a 75 GIA stapler was performed. The postoperative course was uneventful and the patient was discharged from the hospital on the 8th postoperative day. |
pmc-6609737-1 | A 66-year-old gentleman with no known comorbidities presented to us with a history of multiple melenic bowel movements. He has associated lethargy and easy fatiguability as well. Further history from the patient revealed that he had been treated for symptomatic anaemia for the past two years. On clinical examination, he was pale, tachycardic but normotensive. His abdominal examination was unremarkable and digital rectal examination revealed melena. Initial investigations revealed a drop of haemoglobin from 11 g/dl to 4 g/dl. He was promptly resuscitated with blood products, and an early upper endoscopy was performed.
The index oesophagogastroduodenoscopy (OGDS) showed a small Forrest 3 antral ulcer with multiple subcentimeter gastric polyps []. The gastric polyps were biopsied, and the histopathology subsequently reveals it to be benign. A colonoscopy showed blood-stained colonic mucosa in its entirety. However, no bleeding source was identified. An urgent contrast-enhanced computed tomography (CECT) of the abdomen was performed which revealed no significant abnormality. There were no bowel related masses seen. After the acute gastrointestinal bleeding episode subsided, we proceeded to work him up with a presumptive diagnosis of possible small intestinal bleed.
Capsule endoscopy was performed which showed several small telangiectasias in the proximal part of the small bowel (). There was no visible tumour, polyps or ulcers. A double-balloon enteroscopy was then performed. It showed abnormal vascularity with a central umbilication over the mucosa of the small bowel (). The mucosal abnormality was located at 165 cm from the incisor. Preoperative assessment of the patient showed he has an ASA score of 1 and a Revised Cardiac Risk Index score of 1 []. He subsequently underwent a laparoscopic examination in the theatre. Laparoscopic entry was performed with a closed technique (Veress needle) []. Intraoperative findings revealed an exophytic lesion measuring 6 cm × 6 cm × 3 cm approximately 30 cm distal to the duodenojejunal flexure (, , ). Small bowel resection and primary side-to-side anastomosis were performed, without regional lymphadenectomy. He recovered uneventfully and was discharged after a short hospital stay.
The histopathological report confirmed the diagnosis of GIST arising from the jejunum, with a TNM staging of T3N0M0. The tumour measures 60 × 65 × 30 mm, with a mitosis of 1 per 50 high power field (HPF), with no evidence of tumour rupture. On immunohistochemistry staining, the tumour is positive for CD117 and DOG1. During his clinic follow up, he remains symptom-free with no evidence of recurrence or metastases at six months 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.