期刊文献+
共找到2篇文章
< 1 >
每页显示 20 50 100
无义突变引起的遗传性疾病及其治疗新药的研究进展 被引量:2
1
作者 陈执中 《食品与药品》 CAS 2008年第1期55-57,共3页
无义突变(nonsense mutation)是一类特定类型的基因突变。文章综述了无义突变及其引起的遗传性疾病,治疗这类疾病新药的发展,PTC124及其作用机制以及对杜兴肌营养不良和囊性纤维变性等的药效学研究进展。
关键词 无义突变 遗传疾病 杜兴肌营养不良 囊性纤维病变 PTC124
下载PDF
High rate of complicated idiopathic gallstone disease in pediatric patients of a North American tertiary care center 被引量:1
2
作者 Denise Herzog Guylaine Bouchard 《World Journal of Gastroenterology》 SCIE CAS CSCD 2008年第10期1544-1548,共5页
AIM: To assess spectrum and etiology of gallstones and biliary sludge in the pediatric population of a North American tertiary care centre. METHODS: Retrospective review of abdominal ultraso- unds recorded at Saint Ju... AIM: To assess spectrum and etiology of gallstones and biliary sludge in the pediatric population of a North American tertiary care centre. METHODS: Retrospective review of abdominal ultraso- unds recorded at Saint Justine Hospital over a period of 24 mo (8/2003 to 8/2005) in patients < 19 years of age. Patients < 2 years of age were analyzed separately. RESULTS: The presence of gallstones was noted in 127 patients. In 107 it was a new diagnosis, in 48/105 (45.7%) patients > 2 years of age idiopathic gallstone disease was found. These 48 patients represent 2.1% of the population who required ultrasound for abdominal pain. Complicated gallstone disease occurred in 28/48 with idiopathic disease, mainly adolescent girls. Patients with hemolytic disorders, cystic fibrosis, oncologic diseases or kidney transplantation and gallstones were asymptomatic and stones were detected during routine abdominal ultrasound. Twenty two patients < 2 years of age not consulting for abdominal pain had gallstone disease of diverse etiology. Biliary sludge was seen in 84 patients, 78.5% on total parenteral nutrition. In 4 patients, sludge progressed to gallstones. CONCLUSION: Idiopathic gallstone disease and its rate of complication are more frequent in our cohort than expected from previous studies. Adolescent girls with abdominal pain and idiopathic gallstones require special attention for complicated disease course. 展开更多
关键词 CHOLECYSTECTOMY Hemolytic disease Cystic fibrosis PANCREATITIS CHOLEDOCHOLITHIASIS
下载PDF
上一页 1 下一页 到第
使用帮助 返回顶部