在纳入本研究的2923例轻型卒中或短暂性脑缺血发作患者中,共有2273 (77.76%)例患者ABCD-GENE评分<10分,以及650 (22.24%)例患者评分≥10分。在ABCD-GENE评分<10分以及≥10分的患者中,与单独服用阿司匹林的患者相比,接受阿司匹林-联合氯吡格雷药物治...
在ABCD-GENE评分<10分和ABCD-GENE评分≥10分的患者中,与单独使用阿司匹林相比,氯吡格雷-阿司匹林治疗卒中复发的危害比(HR,95% CI)分别为0.70(0.54–0.91)和0.76(0.46–1.24)。按照ABCD-GENE评分0-5分,6-24分和>24分进行分层分析,氯吡格雷-阿司匹...
在中国轻型卒中及短暂性脑缺血发作的人群中,在ABCD-GENE评分较高的人群在阿司匹林联合氯吡格雷治疗中的获益更低。本研究建议在临床实践中通过ABCD-GENE评分将临床因素及基因因素结合,以评估患者接受阿司匹林联合氯吡格雷方案的治疗效果。
The ABCD-GENE Score for Clopidogrel ResponseP2Y(12) inhibitorsdrug-eluting stentsrisk prediction models[Display omitted]doi:10.1016/j.jcin.2020.01.228John A. BittlJACC Cardiovascular Interventions
Dvoráková L, Storkánová G, Unterrainer G, Hujová J, Kmoch S, Zeman J, Hrebícek M, Berger J: Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange. Hum Mutat. 2001, 18: 52-60. ...
X-linked adrenoleukodystrophy (ALD) is a genetic disorder of the ABCD1 gene. We aimed to treat ALD via direct intracerebral injection of lentiviral ABCD1 (LV.ABCD1). Lentiviral vectors (LVs) were injected into the brain of wild type mice to access toxici
A novel ABCD1 gene mutation in a Chinese patient with X-linked adrenoleukodystrophydoi:10.1515/jpem-2013-0441X-linked adrenoleukodystrophy (X-ALD) (OMIM: 300100) is a recessive neurodegenerative disorder caused by defects in the ABCD1 gene on chromosome Xq28. Childhood cerebral ALD (CCALD) is ...
Furthermore, we constructed wild-type and mutant vectors of the ABCD1 (NM0000334) gene to validate the effect of this mutation on the expression of the ABCD1 gene and protein and to explore the mechanism of X-linked adrenoleukodystrophy occurrence and development to identify therapeutic targets ...
最终作者认为,对于中国轻型卒中/TIA人群,较高ABCD-GENE评分的患者其氯吡格雷-阿司匹林疗效越差。本研究表明,集成了CYP2C19基因型和临床危险因素的ABCD-GENE评分可以用于评估氯吡格雷-阿司匹林治疗的疗效。 文献出处: Stroke. 2022 Feb;53(2):465-472. doi: 10.1161/STROKEAHA.120.033049. Epub 2021 Oct 20. ...
Due to newborn screening for X-linked adrenoleukodystrophy (ALD), and the use of exome sequencing in clinical practice, the detection of variants of unknown significance (VUS) in the ABCD1 gene is increasing. In these cases, functional tests in fibroblas