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年轻患者中G20210A凝血酶原基因突变与脑缺血性卒中的关联

Association of G20210A Prothrombin Gene Mutation and Cerebral Ischemic Stroke in Young Patients.

作者信息

Poudel Sujan, Zeb Mehwish, Kondapaneni Varshitha, Gutlapalli Sai Dheeraj, Choudhari Jinal, Sodiya Olusegun T, Toulassi Ijeoma A, Cancarevic Ivan

机构信息

Internal Medicine, California Institute of Behavioral Neurosciences & Psychology, Fairfield, USA.

Internal Medicine, Pediatrics, California Institute of Behavioral Neurosciences & Psychology, Fairfield, USA.

出版信息

Cureus. 2020 Dec 8;12(12):e11984. doi: 10.7759/cureus.11984.

Abstract

Ischemic stroke is an acute episode of neurological dysfunction resulting from the focal brain and spinal cord infarction. Many etiologies have been reported and vary significantly with the age of the patients. This study aims to show the association of G20210A prothrombin gene mutation and cerebral ischemic stroke in young patients. The prothrombin gene mutation is the second most common inherited thrombophilia after the factor V mutation. In this single missense mutation, guanine is substituted by adenine base pair in the nucleotide position 20210 of the 3'-untranslated region of the prothrombin gene, resulting in abnormal thrombin production predisposing to both arterial or venous thrombosis. Forty-seven relevant articles were selected after a thorough screening process using a regular keyword 'G20210A Prothrombin' and/or 'Ischemic Stroke' mostly from the PubMed database. We included the studies that are published in the last 22 years with patients age ≤57 years. This review article depicts the association of G20210A prothrombin gene mutation with ischemic stroke in young patients irrespective of ethnicity and zygosity status of their genotype. However, more multicenter prospective studies are needed to better understand the application of prothrombin gene mutation in predicting the associated risk of ischemic stroke in young patients and its importance in deciding the patients' treatment or prognosis.

摘要

缺血性中风是由局灶性脑和脊髓梗死引起的急性神经功能障碍发作。已报道多种病因,且因患者年龄不同而有显著差异。本研究旨在揭示年轻患者中G20210A凝血酶原基因突变与脑缺血性中风的关联。凝血酶原基因突变是继因子V突变后第二常见的遗传性血栓形成倾向。在这种单一错义突变中,凝血酶原基因3'-非翻译区核苷酸位置20210处的鸟嘌呤被腺嘌呤碱基对取代,导致异常凝血酶生成,易引发动脉或静脉血栓形成。在使用常规关键词“G20210A凝血酶原”和/或“缺血性中风”进行全面筛选后,主要从PubMed数据库中选取了47篇相关文章。我们纳入了过去22年发表的、患者年龄≤57岁的研究。这篇综述文章描述了G20210A凝血酶原基因突变与年轻患者缺血性中风之间的关联,而不考虑其种族和基因型的纯合状态。然而,需要更多的多中心前瞻性研究,以更好地了解凝血酶原基因突变在预测年轻患者缺血性中风相关风险中的应用及其在决定患者治疗或预后方面的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f471/7793372/89cc2dafab58/cureus-0012-00000011984-i01.jpg

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