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综述:癫痫相关和猝死的过去、现在和未来挑战以及生物库。

Review: The past, present and future challenges in epilepsy-related and sudden deaths and biobanking.

机构信息

Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, London, UK.

Department of Psychiatry, Columbia University Medical Centre, Divisions of Molecular Imaging and Neuropathology, New York State Psychiatric Institute, New York, NY, USA.

出版信息

Neuropathol Appl Neurobiol. 2018 Feb;44(1):32-55. doi: 10.1111/nan.12453.

Abstract

Awareness and research on epilepsy-related deaths (ERD), in particular Sudden Unexpected Death in Epilepsy (SUDEP), have exponentially increased over the last two decades. Most publications have focused on guidelines that inform clinicians dealing with these deaths, educating patients, potential risk factors and mechanisms. There is a relative paucity of information available for pathologists who conduct these autopsies regarding appropriate post mortem practice and investigations. As we move from recognizing SUDEP as the most common form of ERD toward in-depth investigations into its causes and prevention, health professionals involved with these autopsies and post mortem procedure must remain fully informed. Systematizing a more comprehensive and consistent practice of examining these cases will facilitate (i) more precise determination of cause of death, (ii) identification of SUDEP for improved epidemiological surveillance (the first step for an intervention study), and (iii) biobanking and cell-based research. This article reviews how pathologists and healthcare professionals have approached ERD, current practices, logistical problems and areas to improve and harmonize. The main neuropathology, cardiac and genetic findings in SUDEP are outlined, providing a framework for best practices, integration of clinical, pathological and molecular genetic investigations in SUDEP, and ultimately prevention.

摘要

在过去的二十年中,人们对癫痫相关死亡(ERD),特别是癫痫猝死(SUDEP)的认识和研究呈指数级增长。大多数出版物都集中在为处理这些死亡的临床医生提供指导,教育患者,潜在的危险因素和机制。对于进行这些尸检的病理学家来说,关于适当的死后实践和调查的信息相对较少。随着我们从认识到 SUDEP 是 ERD 最常见的形式,深入研究其原因和预防措施,参与这些尸检和死后程序的医疗保健专业人员必须保持充分知情。系统化更全面和一致的检查这些病例的做法将有助于:(i)更准确地确定死因;(ii)确定 SUDEP 以改善流行病学监测(干预研究的第一步);(iii)生物库和基于细胞的研究。本文回顾了病理学家和医疗保健专业人员如何处理 ERD、当前的做法、后勤问题以及需要改进和协调的领域。概述了 SUDEP 中的主要神经病理学、心脏和遗传发现,为最佳实践、临床、病理和分子遗传学调查在 SUDEP 中的整合以及最终的预防提供了框架。

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Fatal Colloid Cysts: A Systematic Review.致命性胶体囊肿:一项系统综述
World Neurosurg. 2017 Nov;107:409-415. doi: 10.1016/j.wneu.2017.07.183. Epub 2017 Aug 8.
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Underestimation of sudden deaths among patients with seizures and epilepsy.癫痫发作和癫痫患者中猝死的低估情况。
Neurology. 2017 Aug 29;89(9):886-892. doi: 10.1212/WNL.0000000000004292. Epub 2017 Aug 2.
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Pulmonary and cardiac pathology in sudden unexpected death in epilepsy (SUDEP).癫痫猝死(SUDEP)中的肺部和心脏病理学
Epilepsy Behav. 2017 Aug;73:119-125. doi: 10.1016/j.yebeh.2017.05.013. Epub 2017 Jun 17.
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Sudden Death in Epilepsy: Knowledge among Pediatric Providers.癫痫猝死:儿科医疗服务提供者的认知情况
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