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分子尸检在心脏性猝死中的应用及其对家庭的影响:多学科合作的实际、法律和伦理问题探讨。

Molecular autopsy in sudden cardiac death and its implication for families: discussion of the practical, legal and ethical aspects of the multidisciplinary collaboration.

机构信息

University of Lausanne, University Center of Legal Medicine, Geneva and Lausanne, Switzerland, Lausanne, Switzerland.

出版信息

Swiss Med Wkly. 2009 Dec 12;139(49-50):712-8. doi: 10.4414/smw.2009.12837.

Abstract

Sudden cardiac death (SCD) is a major cause of premature death in young adults and children in developed countries. Standard forensic autopsy procedures are often unsuccessful in determining the cause of SCD. Post-mortem genetic testing, also called molecular autopsy, has revealed that a non-negligible number of these deaths are a result of inherited cardiac diseases, including arrhythmic disorders such as congenital long QT syndrome and Brugada syndrome. Due to the heritability of these diseases, the potential implications for living relatives must be taken into consideration. Advanced diagnostic analyses, genetic counselling, and interdisciplinary collaboration should be integral parts of clinical and forensic practice. In this article we present a multidisciplinary collaboration established in Lausanne, with the goal of properly informing families of these pathologies and their implications for surviving family members. In Switzerland, as in many other countries, legal guidelines for genetic testing do not address the use of molecular tools for post-mortem genetic analyses in forensic practice. In this article we present the standard practice guidelines established by our multidisciplinary team.

摘要

心源性猝死(SCD)是发达国家中导致年轻人和儿童早逝的主要原因。标准的法医尸检程序通常无法确定 SCD 的原因。死后基因检测,也称为分子尸检,已经揭示出这些死亡中有相当数量是由遗传性心脏病引起的,包括心律失常疾病,如先天性长 QT 综合征和 Brugada 综合征。由于这些疾病具有遗传性,必须考虑对活着的亲属的潜在影响。先进的诊断分析、遗传咨询和跨学科合作应成为临床和法医实践的重要组成部分。在本文中,我们介绍了在洛桑建立的多学科合作,目的是为这些病理及其对幸存家庭成员的影响提供适当的信息。在瑞士,与许多其他国家一样,基因检测的法律指南并未涉及在法医实践中使用分子工具进行死后基因分析。在本文中,我们介绍了我们多学科团队制定的标准实践指南。

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