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国际卒中遗传学联盟的推荐意见(第2部分):生物样本的采集和储存 被引量:2
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作者 Thomas W.K.Battey Valerie Valant +21 位作者 Sylvia Baedorf Kassis Christina Kourkoulis Chaeyoung Lee Christopher D. Anderson Guido J. Falcone Jordi Jimenez-Conde Israel Fernandez-Cadenas Guillaume Pare Tatjana Rundek Michael L. James robin lemmens Tsong-Hai Lee Turgut Tatlisumak Steven J. Kittner Arne Lindgren Farrah J. Mateen Aaron L. Berkowitz Elizabeth G. Holliday Jennifer Majersik 李海峰 姜平 岳耀先 《国际脑血管病杂志》 2015年第9期651-656,共6页
在2003年人类基因组测序以及全基因组基因分型技术发展的共同促进下,人类遗传学的进步已使我们识别出2000多个与性状相关的基因突变。由于这些突变大多数对疾病风险仅有微小的独立影响,因此成功的遗传学研究需要很大的样本量(包含数... 在2003年人类基因组测序以及全基因组基因分型技术发展的共同促进下,人类遗传学的进步已使我们识别出2000多个与性状相关的基因突变。由于这些突变大多数对疾病风险仅有微小的独立影响,因此成功的遗传学研究需要很大的样本量(包含数以千计、万计或者十万计的病例和对照)才能达到足够的研究效能。如此大的样本量积累需要依赖在人类遗传学研究乃至在临床研究中史无前例的大规模国际协作。现在已有许多常见疾病的专病联盟将大量独立机构和合作者联合起来。每个联盟均面临至少2个基本问题:如何整合具有足够数量、同质性和表型质量高的研究样本以及如何储存和分析来自入组受试者的生物样本,有时可能需要在数年间反复进行。 展开更多
关键词 人类遗传学 生物样本 国际协作 储存 人类基因组测序 采集 卒中 基因分型技术
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Endovascular treatment in anterior circulation stroke beyond 6.5 hours after onset or time last seen well:results from the MR CLEAN Registry 被引量:1
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作者 Luuk Dekker Esmee Venema +17 位作者 F Anne V Pirson Charles B L M Majoie Bart J Emmer Ivo G H Jansen Maxim J H L Mulder robin lemmens Robert-Jan B Goldhoorn Marieke J H Wermer Jelis Boiten Geert J LycklamaàNijeholt Yvo B W E M Roos Adriaan C G M van Es Hester F Lingsma Diederik W J Dippel Wim H van Zwam Robert J van Oostenbrugge Ido R van den Wijngaard on behalf of the MR CLEAN Registry investigators 《Stroke & Vascular Neurology》 SCIE CSCD 2021年第4期572-580,I0037-I0048,共21页
Background Randomised controlled trials with perfusion selection have shown benefit of endovascular treatment(EVT)for ischaemic stroke between 6 and 24 hours after symptom onset or time last seen well.However,outcomes... Background Randomised controlled trials with perfusion selection have shown benefit of endovascular treatment(EVT)for ischaemic stroke between 6 and 24 hours after symptom onset or time last seen well.However,outcomes after EVT in these late window patients without perfusion imaging are largely unknown.We assessed their characteristics and outcomes in routine clinical practice.Methods The Multicenter Randomized Clinical Trial of Endovascular Treatment for Acute Ischemic Stroke in the Netherlands Registry,a prospective,multicentre study in the Netherlands,included patients with an anterior circulation occlusion who underwent EVT between 2014 and 2017.CT perfusion was no standard imaging modality.We used adjusted ordinal logistic regression analysis to compare patients treated within versus beyond 6.5 hours after propensity score matching on age,prestroke modified Rankin Scale(mRS),National Institutes of Health Stroke Scale,Alberta Stroke Programme Early CT Score(ASPECTS),collateral status,location of occlusion and treatment with intravenous thrombolysis.Outcomes included 3-month mRS score,functional independence(defined as mRS 0-2),and death.Results Of 3264 patients who underwent EVT,106(3.2%)were treated beyond 6.5 hours(median 8.5,IQR 6.9-10.6),of whom 93(87.7%)had unknown time of stroke onset.CT perfusion was not performed in 87/106(80.2%)late window patients.Late window patients were younger(mean 67 vs 70 years,p<0.04)and had slightly lower ASPECTS(median 8 vs 9,p<0.01),but better collateral status(collateral score 2-3:68.3%vs 57.7%,p=0.03).No differences were observed in proportions of functional independence(43.3%vs 40.5%,p=0.57)or death(24.0%vs 28.9%,p=0.28).After matching,outcomes remained similar(adjusted common OR for 1 point improvement in mRS 1.04,95%CI 0.56 to 1.93).Conclusions Without the use of CT perfusion selection criteria,EVT in the 6.5-24-hour time window was not associated with poorer outcome in selected patients with favourable clinical and CT/CT angiography characteristics.randomised controlled trials with lenient inclusion criteria are needed to identify more patients who can benefit from EVT in the late window. 展开更多
关键词 treatment BEYOND REGISTRY
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