Left main occlusion secondary to aortic root rupture following transcatheter aortic valve replacement managed by left main stenting

Acute left main coronary occlusion secondary to a periaortic root hematoma secondary to annular rupture during transcatheter heart valve deployment is reported. © 2013 Wiley Periodicals, Inc.     

A 3-base pair deletion,c.9711_9713del,in DMD results in intellectual disability without muscular dystrophy

We have identified a deletion of 3 base pairs in the dystrophin gene (DMD), c.9711_9713del, in a family with nonspecific X-linked intellectual disability (ID) by sequencing of the exons of 86 known X-linked ID genes. This in-frame deletion results in the deletion of a single-amino-acid residue, Leu3238, in the brain-specific isoform Dp71 of dystrophin. Linkage analysis supported causality as the mutation was present in the 7.6 cM linkage interval on Xp22.11–Xp21.1 with a maximum positive LOD score of 2.41 (MRX85 locus). Molecular modeling predicts that the p.(Leu3238del) deletion results in the destabilization of the C-terminal domain of dystrophin and hence reduces the ability to interact with β-dystroglycan. Correspondingly, Dp71 protein levels in lymphoblastoid cells from the index patient are 6.7-fold lower than those in control cell lines (P=0.08). Subsequent determination of the creatine kinase levels in blood of the index patient showed a mild but significant elevation in serum creatine kinase, which is in line with impaired dystrophin function. In conclusion, we have identified the first DMD mutation in Dp71 that results in ID without muscular dystrophy.     

健脾疏肝降脂方对NAFLD肥胖小鼠肝指数、血脂水平及病理组织学的影响

目的:观察健脾疏肝降脂方对高脂饮食诱导的非酒精性脂肪肝(non-alcoholic fatty liver disease,NAFLD)肥胖小鼠的治疗效果。方法:将72只小鼠随机分为模型组,健脾疏肝降脂方高剂量组、中剂量组、低剂量组,壳脂胶囊对照组和空白组。采用饲养高脂饲料及皮下注射体积分数5%CCl_4复制NAFLD肥胖模型小鼠,分别以相应药物灌胃6周,检测血清中三酰甘油(triacylglycerol,TG)、总胆固醇(total cholesterol,TC)、高密度脂蛋白(high density lipoprotein,HDL)、低密度脂蛋白(low density lipoprotein,LDL)的水平,光镜下观察肝组织的脂肪变程度。结果:①与空白组比较,模型组小鼠肝指数及血清TC、LDL均明显升高(P0.01)。与模型组比较,各给药组血脂指标均明显降低(P0.05);其中,健脾疏肝降脂方高剂量组、中剂量组明显优于壳脂胶囊对照组(P0.05)。②各给药组光镜下病理组织改变均较模型组明显,其中健脾疏肝降脂方高剂量组、中剂量组小鼠肝细胞脂肪变程度减轻明显优于低剂量组(P0.05)。结论:健脾疏肝降脂方可明显改善NAFLD肥胖小鼠的脂肪变程度,其作用机理可能与调节机体内脂肪代谢、改善肝小叶结构有关。