ABSTRACT
A 67-year-old man underwent two endoscopic submucosal dissection procedures, one for gastric adenoma and one for early gastric cancer. The follow-up endoscopy showed metachronous recurrence at the anterior wall of the lower body, for which he underwent a subtotal gastrectomy. Four first- or second-degree relatives in his family have been diagnosed with gastric or colon cancers. The patient underwent counseling and genetic testing to identify single nucleotide polymorphisms and indel variants for 31 genes by next generation sequencing. Five missense mutations were identified, one each in ATM, BRIP1, and EPCAM and two in BRCA2. These genetic alterations may be candidates for genetic causes of this familial cluster of gastric cancer. This study identified genes that, for the first time, can be potentially associated with an increased risk of familial gastric cancer among the Korean population. These results may be helpful in evaluating other genetic factors related to the etiology of gastric cancer.
Subject(s)
Aged , Humans , Adenoma , Colonic Neoplasms , Counseling , Endoscopy , Follow-Up Studies , Gastrectomy , Gastrointestinal Neoplasms , Genetic Testing , Mutation, Missense , Polymorphism, Single Nucleotide , Recurrence , Stomach NeoplasmsABSTRACT
Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract. A 77-year-old man was referred for the evaluation of general weakness and leukocytosis. Computed tomography showed a 9.5×6.5-cm cavitary lesion with an air-fluid level near the stomach, which was thought to be a perigastric abscess. Upper endoscopy revealed a fistula on the greater curvature at the mid body of the stomach. The margin of the fistula opening was clearly demarcated, and yellow turbid fluid oozing from the fistula was seen. Laparoscopic wedge resection was performed at the perforated area of the stomach. Immunohistochemistry revealed CD117 expression. A diagnosis of intermediate-risk GIST was made. No recurrence was identified within 18 months after the operation. The final diagnosis was perforated gastric GIST communicating with the gastric lumen and presenting as an intra-abdominal abscess.
Subject(s)
Aged , Humans , Abdominal Abscess , Abscess , Diagnosis , Endoscopy , Fistula , Gastrointestinal Stromal Tumors , Gastrointestinal Tract , Immunohistochemistry , Laparoscopy , Leukocytosis , Recurrence , StomachABSTRACT
Amyloidosis is a rare complication of nonhodgikin's lymphoma. In review of the literature, almost all amyloidosis in lymphoma are the AL type and they are resulted frorn monoclonal light chains synthesized by the lymphoma cells. But we want to describe the AA type in patient with small lymphocytic lymphoma. A 60-year-old male patient admitted due to generalized edema and asthenia. He complained anorexia and dizziness at standing. Initial laboratory test revealed nephrotic range proteinuria and hypoalbuminemia. Combined pituitary stimulation test confirmed a decreased pituitary function and the adrenal function was also regarded hypofunctioning status in view of decreased cortisol response. Serum protein electrophoresis revealed monoclonal peak in gamma globulin area. This protein was composed by IgG and Lambda. We found the monotonous cellular infiltration in bone marrow specimen. These cells were lamMa positive in immunohistochemical stain- ing and only CD 20 positive in immunophenotype study. We made a diagnosis of small lymphocytic lymphoma with bone marrow involvement. Kidney biopsy revealed amyloidosis and the electrornicroscopy showed definite randomly arranged amyloid fibril, but immunohistochemical staining was positive with AA amyloid, unexpectedly. We suggest that all amyloidosis in lymphoma patient should be explored the origin of the amyloid fibrile, that is AA type or AL type.
Subject(s)
Humans , Male , Middle Aged , Amyloid , Amyloidosis , Anorexia , Asthenia , Biopsy , Bone Marrow , Diagnosis , Dizziness , Edema , Electrophoresis , gamma-Globulins , Hydrocortisone , Hypoalbuminemia , Immunoglobulin G , Kidney , Leukemia, Lymphocytic, Chronic, B-Cell , Lymphoma , Nephrotic Syndrome , ProteinuriaABSTRACT
Pneumonia caused by Mycoplasma pneumoniae is usually a mild and self-limited infection. Chest films usually show patch consolidation or interstitial infiltration in the lung. We recently encountered a case of fulminant Mycoplasma pneumonia which showed rapidly progressing extensive bilateral airspace consolidation with pleural effusion. A previously healthy 19-year-old female college student was admitted to the hospital because of fever and dry cough. Chest X-ray showed large areas of airspace consolidation in both lung with pleural effusion and rapid progression of the lung lesion. The diagnosis of Mycoplasma pneumonia was made from the serologic test. Here we report a case of Mycoplasma pneumonia showing unusual manifestation.
Subject(s)
Female , Humans , Young Adult , Cough , Diagnosis , Fever , Lung , Mycoplasma pneumoniae , Pleural Effusion , Pneumonia , Pneumonia, Mycoplasma , Serologic Tests , ThoraxABSTRACT
Alcohol can cause rhabdomyolysis by either direct toxicity or associated metabolic abnormality such as hypophosphatemia and hypokalemia. It can also predispose to or cause trauma, seizures, or coma- induced ischemic pressure necrosis. In order to investigate the clinical features of acute renal failure caused by alcohol induced rhabdomyolysis, we reviewed the medical records of the 12 patients. All patients had been drinking much amounts of alcohol for several years. All patients showed elevation of muscle enzyme such as creatine phosphokinase, lactic dehydrogenase, aspartate transaminase and blood urea nitrogen and serum creatinine. Predisposing factors of rhabdomyolysis were ischemic compression due to unconsciousness and dehydration(2 cases), and hypophosphatemia and dehydration(1 case), seizure and dehydration(1 case), and only severe dehydration(3 cases). Initial symptoms were painful swelling at lesion site(5 cases), abdominal pain(2 cases), general ache(2 cases), leg pain without swelling(1 case), dyspnea(1case), and lethargy(1 case). Seven patients developed delirium tremens during recovery stage. Eight patients showed oliguric acute renal failure and 8 patients were treated with hemodialysis. Complications were disseminated intravascular coagulation(DIC)(3 cases), compartment syndrome(2 cases), capillary leak syndrome and DIC(1 case). One of 12 patients died of disseminated intravascular coagulation and other patients showed complete recovery of renal function.
Subject(s)
Humans , Acute Kidney Injury , Alcohol Withdrawal Delirium , Aspartate Aminotransferases , Blood Urea Nitrogen , Capillary Leak Syndrome , Causality , Creatine Kinase , Creatinine , Disseminated Intravascular Coagulation , Drinking , Hypokalemia , Hypophosphatemia , Leg , Medical Records , Necrosis , Oxidoreductases , Renal Dialysis , Rhabdomyolysis , Seizures , UnconsciousnessABSTRACT
A persistent left superior vena cava(SVC) is found in about 0.3% of healthy individuals and 4.3% of patients with congenital heart disease. This anomaly is most frequently found in conjunction with a right-sided SVC, but may also be solitary. Recently, we experienced a case of persistent left SVC in patient with chronic renal failure. He required subclavian catheterization for hemodialysis due to leakage of peritoneal dialysate into external genitalia and pleural cavity. Because he had had a history of right subclavian catheterization for hemodialysis 3 months ago, the hemodialysis catheter was inserted in the left subclavian vein without any complication. Chest X-ray after insertion of the catheter showed that the distal tip of the catheter seemed to be within the aorta. Venography showed that the catheter was located within the left SVC and MRI showed isolated two SVC. He is receiving hemodialysis through the left subclavian catheter which is positioned within the left SVC without any problem.