Usefulness of Real-time Semi-quantitative PCR, JAK2 MutaScreen (TM) Kit for JAK2 V617F Screening / 대한진단검사의학회지

BACKGROUND: Real-time PCR for quantification of JAK2 V617F has recently been introduced and used to evaluate the importance of mutant allele burden in both diagnosis and disease progression in myeloproliferative diseases (MPDs). We evaluated the usefulness of JAK2 MutaScreen(TM) kit that uses a real-time semiquantitative PCR method and has been designed to screen JAK2 V617F mutant allele burden. METHODS: Forty MPD patients were included in this study. We screened JAK2 V617F and determined the mutant allele burden using JAK2 MutaScreen(TM) kit. The mutant allele burden was estimated by six-scaled standards of JAK2 V617F mutant allele (2%, 5%, 12.5%, 31%, 50%, and 78%). For evaluation of test performance, an allele-specific PCR (AS-PCR) was carried out in all samples by using Seeplex JAK2 Genotyping kit. We assessed the clinical differences in distinct disease entities of MPDs according to JAK2 V617F mutant allele burden. RESULTS: JAK2 V617F mutation was detected in 30 cases, including 10 of 11 cases (91%) of polycythemia vera (PV), 13 of 20 cases (65%) of essential thrombocythemia (ET), and 2 of 3 cases (67%) of chronic idiopathic myelofibrosis (CIMF). The concordance rate between the two tests was 95% (38/40). JAK2 V617F mutant allele burden was greater than 50% in 17 cases, and 10 of them (59%) were PV. In contrast, mutant allele burden was less than 50% in 13 cases and 11 of them (85%) were ET. CONCLUSIONS: JAK2 MutaScreen(TM) kit that utilizes a real-time semi-quantitative PCR method is a useful tool for diagnosing MPDs precisely. It can be used to assess the grade of mutant allele burden as well as to screen JAK2 V617F simultaneously.

Partial Airway Obstruction with an Armored Tube by Swelling of the Inner Layer / 대한마취과학회지

An Armored tube is known to be the most effective in maintaining of airway patency during anesthesia in any position. Unfortunately, the tube itself may become the cause of airway obstruction. One of the known complications of the armored tube is a separation of the individual latex layers. This can be caused by herniation into the lumen. Diffusion of nitrous oxide into the inner hernia considerably intensifies the obstruction. The bubbles in the tube wall arise during manufacturing as well as during resterilization. A 62-year-old man with herniation of lumbar disc herniation was intubated with a 8.0 mm armored tube for general anesthesia. 30 minutes later, we experienced signs of partial endotracheal tube obstruction including high arterial PCO2 and inspiratory pressure in prone position. Then, tube suction with catheter was done and signs was slightly improved. But, 90 minutes later, passage of suction catheter was impossible. When operation was finished, patient was turned to supine position. We exchanged the tube with another tube and found inner wall herniation into the armored tube lumen caused by layer separation.

A Case of Successful Endoscopic Injection Sclerotherapy with N-butyl-2-cyanoacrylate for Bleeding Duodenal Varices Misdiagnosed Initially / 대한소화기내시경학회지

Duodenal varices are a rare site of hemorrhage in patients with intrahepatic and extrahepatic portal hypertension, but their bleeding is life-threatening complication. Diagnosis of duodenal varices may be difficult, requiring careful inspection of the duodenal bulb during endoscopy. Diagnosis of duodenal varices may also be revealed using angiography and transhepatic portography. Treatment of duodenal varices include endoscopic injection sclerotherapy (EIS), endoscopic variceal ligation (EVL), surgical procedures, and interventional radiology. A 50-year-old woman with liver cirrhosis was admitted with melena and hematochezia. An endoscopy on admission showed esophageal and fundal varices without any bleeding stigma. Colonoscopy showed moderate amount of fresh blood in the terminal ileum. 99mTc-labelled RBC scan showed a suspicion of a distal jejunal bleeding. She had explo-laparotomy of small bowel segmental resection based on 99mTc-labelled RBC but rebleeding occured. Selective mesenteric angiography failed to reveal the source of bleeding. Repeat endoscopy revealed undetected duodenal varix which was covered with fresh blood clots. Endoscopic injection sclerotherapy with n-butyl-2-cyano acrylate (Histoacryl) was performed and achieved succesful hemostasis.

A Case of Henoch-Sch nlein Purpura with Gastrointestinal Hemorrhage Diagnosed by Renal Biopsy / 대한소화기내시경학회지

Henoch-Sch nlein purpura is a systemic leukoclastic vasculitis with palpable purpura, gastrointestinal manifestations such as abdominal pain and gastrointestinal bleeding and renal problems. It is common in childhood, but can occur during adulthood. Adult have severer symptoms and worse prognosis than children. The pathogenesis of Henoch-Sch nlein purpura is autoimmune vasculitis mediated by immune complex such as IgA1. It is very helpful to find vasculitis and precipitation of immune complex (IgA1, C3) in the skin, gastrointestinal mucosal or renal biopsy for diagnosis. We report a case of Henoch-Sch nlein purpura with hematuria and proteinuria which could be diagnosed by renal needle biopsy due to absence of vasculitis findings in the skin and gastrointestinal mucosal biopsies. In summary, the pattern of evolution of this patient's dermatologic findings, gastrointestinal symptoms, bleeding, hematuria and proteinuria are typical of Henoch-Sch nlein purpura, but the definite diagnosis was very difficult due to absence of much related illness and no vasculitis in the skin and gastrointestinal mucosa. The meaning of renal biopsy in detection and management of Henoch-Sch nlein purpura with he maturia and proteinura was emphasized when vasculitis in the skin and gastrointestinal mucosa was not seen.

A Case of Rheumatoid Arthritis Associated with Ulcerative Colitis / 대한류마티스학회지

Rheumatoid arthritis(RA)is occasionally associated with variable extra-articular involvement and the chronic inflammatory process can affect the gastrointestinal system.The gastrointestinal involvement in RA may present in many causes:drug induced colitis,vasculitis and amyloidosis involved in the gut,association with certain bowel diseases such as collagenous colitis or infectious colitis. Ulcerative colitis(UC)is a chronic inflammatory bowel disease and is commonly associated with peripheral joint disease which correlates with the disease activity and extent of the bowel inflammation.The arthritis is usually presented in pauciarticular,generally asymmetric,transient,and nondestructive pattern.However,the chronic and destructive peripheral arthritis has been reported in a few cases and RA has not been observed in association with UC. We experienced a case of RA patient with recurrent abdominal pain,hematochezia,and tenesmus who was diagnosed as UC by endoscopic and histologic finding.We herein report the case with literature.