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1国际卒中遗传学联盟的推荐意见(第1部分):标准化表型数据收集显示文摘与几乎所有复杂疾病一样,卒中的患病风险和临床转归也是多基因作用的[1]。探索相关基因突变有望为新型个体化治疗方法奠定基础,从而显著减少卒中对全球健康造成的毁灭性影响。为了达到足够的统计学效能以确认多个风险性等位基因,需要很大的样本量。尽管卒中是全世界范围内第二大致死病因和成年人致残的主要原因[2],但没有任何一家研究机构能独立收集到足够的样本。在认识到这一挑战之后,来自世界各地的卒中研究者们于2007年成立了国际卒中遗传学联盟( International Stroke Genetics Consortium, ISGC; http://www. strokegenetics.org),其使命是通过研究在全球多个研究机构入组的患者来识别影响卒中患病风险、临床预后和治疗效果的遗传学因素。尽管先前已取得了一些成功[3-5],仍有大量工作有待进行,这不仅是为了发现风险性等位基因从而达到卒中个体化医疗的最终目标,更是为了开发综合性卒中风险评估手段以及得到足以改变临床实践的结果[6]。根据糖尿病和冠状动脉疾病等其他复杂疾病的研究进展,为了识别与卒中相关的所有基因突变,需要100000~200000个样本。为了达到这个样本量,需要进行更为广泛的协作。Jennifer J. Majersik John W.Cole Jonathan Golledge Natalia S. Rost Yu-Feng Yvonne Chan M. Edip Gurol Ame G. Lindgren Daniel Woo Israel Fernandez-Cadenas Donna T. Chen Vincent Thijs Bradford B. Worrall Ayeesha Kamal Paul Bentley Joanna M. Wardlaw Ynte M. Ruigrok Thomas W.K Battey Reinhold Schmidt Joan Montaner Anne-Katrin Giese Jaume Roquer Jordi Jimenez-Conde Chaeyoung Lee Hakan Ay Juan Jose Martin 李海峰 岳耀先 徐军 2015国际脑血管病杂志2015,23,9:3
2Sex-specific differences in white matter microvascular integrity after ischaemic stroke显示文摘background and purpose Functional outcomes after ischaemic stroke are worse in women,despite adjusting for differences in comorbidities and treatment approaches.White matter microvascular integrity represents one risk factor for poor long-term functional outcomes after ischaemic stroke.The aim of the study is to characterise sex-specific differences in microvascular integrity in individuals with acute ischaemic stroke.Methods A retrospective analysis of subjects with acute ischaemic stroke and brain MRI with diffusion-weighted(DWI)and dynamic-susceptibility contrast-enhanced(DSC)perfusion-weighted imaging obtained within 9 hours of last known well was performed.In the hemisphere contralateral to the acute infarct,normal-appearing white matter(NAWM)microvascular integrity was measured using the K_(2) coefficient and apparent diffusion coefficient(ADC)values.Regression analyses for predictors of K_(2) coefficient,DWI volume and good outcome(90-day modified Rankin scale(mRS)score<2)were performed.results 105 men and 79 women met inclusion criteria for analysis.Despite no difference in age,women had increased NAWM K_(2) coefficient(1027.4 vs 692.7×10^(-6)/s;p=0.006).In women,atrial fibrillation(β=583.6;p=0.04)and increasing NAWM ADC(β=4.4;p=0.02)were associated with increased NAWM K_(2) coefficient.In multivariable regression analysis,the K_(2) coefficient was an independent predictor of DWI volume in women(β=0.007;p=0.01)but not men.Conclusions In women with acute ischaemic stroke,increased NAWM K_(2) coefficient is associated with increased infarct volume and chronic white matter structural integrity.Prospective studies investigating sex-specific differences in white matter microvascular integrity are needed.Mark R Etherton Ona Wu Pedro Cougo Svetlana Lorenzano Hua Li Lisa Cloonan Mark J R J Bouts Arne Lauer Ken Arai Eng H Lo Steve K Feske Karen L Furie Natalia S Rost 2019Stroke & Vascular Neurology2019,4,4:2
3Prediction of protein secondary structure at better than 70% accuracy 显示文摘Rost B Sander C 1993Journal of Molecular Biology1993,232,:1
4Characterization of the human multi- drug resistance protein isoform MRP3 localized to the basolateral hepatocytemembrane显示文摘Konig J Rost D Cui Y 1999Hepatolagy1999,29,4:1
5Conservation and prediction of solvent accessibility in protein families 显示文摘Rost B Sander C 1994Proteins1994,20,:1
6Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2显示文摘Rost S Fregin A Ivaskevicius V 2004Nature2004,427,6974:1
7Plasma concentration of C - reac- tive protein and risk of ischemic stroke and transient ischemic attack : the Framingham study 显示文摘Rost NS Woif PA Kase CS et al 2001Stroke2001,32,11:1
8Anemia and hematoma volume in acute intracerebral hemorrhag显示文摘Kumar M A Rost N S Snider R W 2009Crit Care Med2009,37,5:1
9Distribution of mule deer and elk in relation to roads显示文摘ROST G R BAILEY J A 1979J Wildlife Manage1979,43,3:1
10Prediction of protein secondary structure at better than 70% accuracy 显示文摘B Rost and C Sander 1993J Mol Biol1993,232,2:1
11Many hypotheses but no replication for the association between PDE4D and stroke显示文摘 Bayley N Rost N 2006Nat Genet2006,38,:1
12Growth limitation in marine red-tide dinoflagellates: effects of pH versus inorganic carbon availability显示文摘HANSEN P J LUNDHOLM N ROST B 2007Mar Ecol Prog Ser2007,334,:1
13PHD-an automatic mail server for protein secondary structure prediction显示文摘Rost B Sander C Schneider R 1994Comput Appl Biosci1994,10,:1
14Hypothalamocerebellar and cerebellohypothalamic projections circuits for regulating nonsomatic cerebellar activity显示文摘Dietrichs E Haines DE Roste GK 1994Histol Histopathol1994,9,4:1
15The PredictProtein server 显示文摘Rost B Yachdav G Liu J 2004Nucleic Acids Research2004,32,:1
16Analysing six types of protein-protein interfaces 显示文摘Ofran Y Rost B 2003Mol Biol2003,325,:1
17Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor defi- ciency type 2显示文摘Rost S Fregin A Ivaskevicius V 2004Nature2004,427,6974:1
18Conservation and Prediction of Solvent Accessibility in Protein Families显示文摘Rost B Sander C 1994Proteins:Structure Function and Genetics1994,20,3:1
19Plasma concentration of C-reactive protein and risk of ischemic stroke and transient ischemic attack:the Framingham study显示文摘Rost NS Wolf PA Kase CS 2001Stroke2001,32,:1
20Relation of functional echocardiograph- ic parameters to infarct scar transmurality by magnetic resonance imaging显示文摘Rost C Rost MC Breithardt OA 2014J Am Soc Echocardiogr2014,27,7:1
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