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世界核心医学期刊文摘(神经病学分册) 2006年第2期 55-56页

作者： Fullerton H.J. achrol a.s. Johnston s.C. 刘凯 University of California San Francisco Department of Neurology Box 0137 San Francisco CA 94143-0137 United States.Dr

Background and Purpose -Children with brain arteriovenous malformations (BAVMs) are said to be at higher risk for intracranial hemorrhage (ICH) than adults. Although this notion affects treatment decisions, the evidence to support this c laim is limited. Methods -To compare the risk of ICH in children versus adults with BAVM, we studied all cases of BAVM evaluated at the University of Californi a, san Francisco (January 2000 to December 2004; n=400) and Ka.s.r Permanente No rthern California (January 1993 to December 2004; n=819). In Kaplan-Meier survi val anal yses, the index date was the date of initial BAVM detection; cases were censor ed at time of subsequent ICH (the primary outcome, defined as ICH after initial presentation), first BAVM treatment, or loss to follow-up. Cox proportional haz ards models included childhood presentation ( a.s.old), hemorrhagic prese ntation, and other potential confounders. Results -Our study included 996 perso n-yea.s.of follow-up in the childhood presentation group and 3260 in the adult presentation group. In the unadjusted survival analysis, the subsequent ICH rat es were similar for the 2 age groups (average annual rate 2.0%for children; 2.2 %for adults; P=0.82 by log-rank test). BAVMs in childhood were more likely to present initially with ICH (P stment for presentation in the multivariate model, subsequent ICH rates were lower in children (hazard ratio, 0.10; 95%CI, 0.01 to 0.86; P=0.036). Conclusions -Children with BAVMs do not a ppear to be at increased risk for a.s.bsequent ICH compared with adults, and may even be relatively protected. Confounding by hemorrhagic presentation should be considered in any study comparing BAVM hemorrhage rates in children versus adul ts.

关键词：脑动静脉畸形 ICH 成年患者患儿

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世界核心医学期刊文摘(神经病学分册) 2006年第2期 60-60页

作者： Pawlikowska L. Tran M.N. achrol a.s. W.L. Young 张慧 UCsF 1001 Potrero Ave. SanFrancisco CA 94110 United States.Dr

Background and Purpose -Mutations in endoglin (ENG)-and activin-like kinase (ALK1) ca.s. hereditary hemorrhagic telangiectasias, disorders characterized by pulmonary and brain arteriovenous malformations (BAVMs). We investigated whether polymorphisms in these genes are a.s. a.s.ciated with sporadic BAVM. Methods -A total of 177 sporadic BAVM patients and 129 controls (all subjects white) were genotyped for 2 variants in ALK1 and 7 variants in ENG. Results -The ALK1 IVs3-35A>G polymorphism was a.s.ciated with BAVM: (AnyA [AA+AG] genotype: odds ratio, 2.47; 95%CI, 1.38 to 4.44; P=0.002). Two ENG polymorphisms, ENG -1742A >G and ENG 207G >A, showed a trend toward a.s.ciation with BAVM that did not reach statistical significance. Conclusions -A common polymorphism in ALK1 is a.s.ciated with sporadic BAVM, suggesting that genetic variation in genes mutated in familial BAVM syndromes may play a role in sporadic BAVMs.

关键词：散发性 ALK1 多态性 ENG

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利用定量影像特征分析进行胶质母细胞瘤放射基因组学的探索性研究

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国际医学放射学杂志 2014年第6期 586-587页

作者： O.Gevaert L.A.Mitchell a.s.achrol J.Xu s.Echegaray G.K.steinberg 冉淑华 Departments of Medicine RadiologyStanford University1265 Welch RdstanfordCA94304-5479

摘要目的旨在通过MRI影像创建胶质母细胞瘤(GBM)病变的放射学表型的定量影像特征并产生与这些特征相关的具有不同分子数据的放射基因组学图谱。材料与方

关键词：胶质母细胞瘤分子影像特征基因组学

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