We encountered a case of ruptured sinus of Valsalva aneurysm caused by an unusual event. A 38-year-old-man was referred to our hospital owing to cough and orthopnea after being struck in the chest while playing baseball. Echocardiography showed a ruptured right sinus of Valsalva aneurysm and ventricular septal defect (VSD). Intraoperative findings revealed rupture of the sinus of Valsalva aneurysm into the right ventricle, with a typical “windsock” appearance. The fistula and VSD were closed with Dacron patches at both the right coronary cusp and right ventricular outflow tract. The patient was discharged on the 11th postoperative day without any complications.

A 75-year-old man, who had undergone aortic valve and ascending aorta replacement at the age of 73 years, was admitted to our hospital with one week of fever. Blood culture showed growth of Streptococcus bovis and echocardiography showed vegetation on the prosthetic valve. Although antibiotic treatment was commenced, he complained of abdominal pain, and computed tomography showed a superior mesenteric artery embolism. The abdominal pain improved with fasting, but echocardiography showed another vegetation, and re-aortic valve replacement was performed to prevent embolism recurrence. When he resumed eating postoperatively, he again complained of abdominal pain and computed tomography showed mesenteric ischemia. The necrotic intestine was extensively resected and he recovered successfully. A superior mesenteric artery should be revascularized to 2/11 prevent perioperative mesenteric ischemia when cardiac surgery complicated by acute superior mesenteric artery embolism is performed.

Objective: BRCA1 and BRCA2 mutation carriers are recommended to undergo risk-reducing salpingo-oophorectomy (RRSO) by age 40 and 45, respectively. However, the carriers have a different way of thinking about their life plan. We aimed to investigate the distribution of age at diagnosis of ovarian cancer (OC) patients to examine the optimal timing of RRSO in the carriers. Methods: We examined a correlation between age at diagnosis of OC and common mutation types in 3,517 probands that received BRCA genetic testing. Among them, germline BRCA1 mutation (gBRCA1m), germline BRCA2 mutation (gBRCA2 m) and germline BRCA wild-type (gBRCAwt) were found in 185, 42 and 241 OC patients, respectively. Results: The average age at diagnosis of OC in gBRCA1m and gBRCA2 m was 51.3 and 58.3 years, respectively, and the difference from gBRCAwt (53.8 years) was significant. The gBRCA2 m carriers did not develop OC under the age of 40. The average age was 50.1 years for L63X and 52.8 years for Q934X in BRCA1, and 55.1 years for R2318X and 61.1 years for STOP1861 in BRCA2 . The age at diagnosis in L63X or R2318X carriers was relatively younger than other BRCA1 or BRCA2 carriers, however their differences were not significant. With L63X and R2318X carriers, 89.4% (42/47) and 100% (7/7) of women were able to prevent the development of OC, respectively, when RRSO was performed at age 40. Conclusion There appears to be no difference in the age at diagnosis of OC depending on the type of BRCA common mutation. Further analysis would be needed.

BACKGROUND/AIMS: Recent genome-wide analyses have provided strong evidence concerning adverse events caused by thiopurine drugs such as azathioprine (AZA) and 6-mercaptopurine. The strong associations identified between NUDT15 p.Arg139Cys and thiopurine-induced leukopenia and severe hair loss have been studied and confirmed over the last 2 years. However, other coding variants, including NUDT15 p.Val18_Val19insGlyVal, NUDT15 p.Val18Ile, and FTO p.Ala134Thr, and a noncoding variation in RUNX1 (rs2834826) remain to be examined in detail in this respect. Therefore, we investigated the correlation between these adverse events and the 5 recently identified variants mentioned above among Japanese patients with inflammatory bowel diseases (IBD). METHODS: One hundred sixty thiopurine-treated patients with IBD were enrolled. Genotyping was performed using TaqMan SNP Genotyping Assays or Sanger sequencing. RESULTS: None of the 5 variants were associated with gastrointestinal intolerance to AZA. However, NUDT15 p.Arg139Cys was significantly associated with the interval between initiation and discontinuation of AZA among patients with gastrointestinal intolerance. This variant was strongly associated with early (<8 weeks) and late (≥8 weeks) leukopenia and severe hair loss. Moreover, it correlated with the interval between initiation of thiopurine therapy and leukopenia occurrence, and average thiopurine dose. NUDT15 p.Val18_Val19insGlyVal, NUDT15 p.Val18Ile, FTO p.Ala134Thr, and RUNX1 rs2834826 exhibited no significant relationship with the adverse events examined. CONCLUSIONS: Of the 5 variants investigated, NUDT15 p.Arg139Cys had the strongest impact on thiopurine-induced leukopenia and severe hair loss; therefore, its genotyping should be prioritized over that of other variants in efforts to predict these adverse events in Japanese patients with IBD.
6-Mercaptopurine ; Asian Continental Ancestry Group* ; Azathioprine ; Clinical Coding ; Hair ; Humans ; Inflammatory Bowel Diseases* ; Leukopenia

Inflammatory bowel disease (IBD), including Crohn's disease (CD) and ulcerative colitis (UC), is a chronic inflammatory disease of the gastrointestinal tract, with increasing prevalence worldwide. IBD Ahead is an international educational program that aims to explore questions commonly raised by clinicians about various areas of IBD care and to consolidate available published evidence and expert opinion into a consensus for the optimization of IBD management. Given differences in the epidemiology, clinical and genetic characteristics, management, and prognosis of IBD between patients in Japan and the rest of the world, this statement was formulated as the result of literature reviews and discussions among Japanese experts as part of the IBD Ahead program to consolidate statements of factors for disease prognosis in IBD. Evidence levels were assigned to summary statements in the following categories: disease progression in CD and UC; surgery, hospitalization, intestinal failure, and permanent stoma in CD; acute severe UC; colectomy in UC; and colorectal carcinoma and dysplasia in IBD. The goal is that this statement can aid in the optimization of the treatment strategy for Japanese patients with IBD and help identify high-risk patients that require early intervention, to provide a better long-term prognosis in these patients.
Asian Continental Ancestry Group ; Colectomy ; Colitis, Ulcerative ; Colorectal Neoplasms ; Consensus ; Crohn Disease ; Disease Management* ; Disease Progression ; Early Intervention (Education) ; Epidemiology ; Expert Testimony ; Gastrointestinal Tract ; Hospitalization ; Humans ; Inflammatory Bowel Diseases* ; Japan* ; Prevalence ; Prognosis

A 81-year-old man underwent CABG for angina pectoris. The grafts were all patent in postoperative coronary angiography and he was discharged on postoperative day 24. Pericardial and pleural effusion appeared in 1 month after surgery. After pericardial and pleural effusion drainage, we started steroid therapy. However, his symptoms did not improve. We performed pericardiectomy under the diagnosis of constrictive pericarditis. Diastolic dysfunction improved after the surgery, and he was discharged on postoperative day 117.