[Predictive capability of Cys112Arg single nucleotide polymorphisms of the apolipoprotein E gene in assessing the risk of immediate and early post-traumatic seizures].
K K Kriukova, E V Alexandrova, O N Voskresenskaya, V V Podlepich, A D Kravchuk, E I Rytkin, Y A Latyshev, D A Kudlay, S S Sologova, S A Albagachiev, M A Mandrik
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引用次数: 0
Abstract
This study is aimed at investigating epileptic seizures, one of the consequences of traumatic brain injury (TBI). Immediate and early post-traumatic seizures, as well as late post-traumatic epileptic seizures or post-traumatic epilepsy, can have different pathogenetic bases. The following key risk factors associated with post-traumatic epilepsy are known: duration of unconsciousness, gunshot wounds, intracranial hemorrhage, diffuse axonal injury, prolonged (more than 3 days) post-traumatic amnesia, acute subdural hematoma with surgical evacuation, immediate and early post-traumatic epileptic seizures, fracture of the skull bones. The role of genetic factors in post-traumatic seizures is poorly understood due to the complexity and multiple causal mechanisms. This paper addresses the role of genetic factors in the occurrence and severity of epileptic events in patients with TBI. In particular, we investigated the role of the Cys112Arg single nucleotide polymorphism of the apolipoprotein E gene. Apolipoprotein E is known for its role in the transport and metabolism of lipids and, therefore, the development of cardiovascular diseases; it is also associated with Alzheimer's disease and has recently been studied in the context of association with epilepsy. The study shows an association between this polymorphism and the risk of immediate and early epileptic seizures in patients with severe TBI.
[载脂蛋白 E 基因 Cys112Arg 单核苷酸多态性在评估创伤后即刻和早期癫痫发作风险中的预测能力]。
本研究旨在调查癫痫发作,这是创伤性脑损伤(TBI)的后果之一。创伤后即刻和早期癫痫发作,以及创伤后晚期癫痫发作或创伤后癫痫,可能有不同的发病基础。已知与创伤后癫痫相关的主要风险因素如下:昏迷时间长、枪伤、颅内出血、弥漫性轴索损伤、创伤后失忆时间长(超过 3 天)、急性硬膜下血肿并经手术清除、创伤后癫痫立即和早期发作、颅骨骨折。遗传因素在创伤后癫痫发作中的作用因其复杂性和多种致病机制而鲜为人知。本文探讨了遗传因素在创伤性脑损伤患者癫痫事件的发生和严重程度中的作用。我们特别研究了载脂蛋白 E 基因 Cys112Arg 单核苷酸多态性的作用。众所周知,载脂蛋白 E 在脂质的转运和代谢过程中起着重要作用,因此会诱发心血管疾病;它还与阿尔茨海默氏症有关,最近也有人研究了它与癫痫的关系。该研究表明,这种多态性与严重创伤性脑损伤患者癫痫立即和早期发作的风险有关。
期刊介绍:
Терапевтический архив
The journal was founded by the prominent Russian therapists M.P. Konchalovsky and G.F. Lang in 1923. Then its editors-in-chief were Professors V.N. Vinogradov and A.G. Gukasyan. Since 1972, E.I. Chazov, Academician of the Russian Academy of Sciences, has been heading the editorial board of the journal.
Over 90 years, there have been more than 1000 issues where the authors and editorial staff have done their best for readers to keep abreast of current advances in medical science and practice and for physicians to master the advanced principles of recognition and treatment of a wide spectrum of visceral diseases.
The papers published in the journal (editorials, original articles, lectures, reviews, etc.) cover both current scientific achievements and practical experience in diagnosing, treating, and preventing visceral diseases. The authors of publications are not only Russian, but also foreign scientists and physicians. All papers are peer-reviewed by highly qualified Russian specialists.
The journal is published monthly. Traditionally, each issue has predominantly certain thematic areas covering individual therapy specializations. Every year, one of the issues is devoted to related problems in practical medicine (allergology and immunology, neurology and psychiatry, obstetrics, oncology, etc.). This all draws the attention of the reading public to the journal.
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The journal is included in the list of periodicals recommended by the Higher Attestation Committee for publishing the papers containing the basic materials of doctoral and candidate dissertations.
By the decision of the Presidium of the Russian Academy of Medical Sciences, the “Therapevticheskiy Arkhiv” was awarded the Botkin medal. It was admitted to the European Association of Sciences Editors (EASE).
The journal was honored with the Golden Press Fund decoration at the 13th International Press Professional Exhibition.