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婴儿猝死病例分子尸检研究的系统评价

A Systematic Review of Molecular Autopsy Studies in Sudden Infant Death Cases.

作者信息

Heathfield Laura Jane, Martin Lorna Jean, Ramesar Raj

机构信息

Division of Forensic Medicine and Toxicology, Department of Pathology, Faculty of Health Sciences, University of Cape Town, Observatory, South Africa.

MRC/UCT Research Unit for Genomic and Precision Medicine, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, Department of Pathology, University of Cape Town, Cape Town, South Africa.

出版信息

J Pediatr Genet. 2018 Dec;7(4):143-149. doi: 10.1055/s-0038-1668079. Epub 2018 Aug 18.

Abstract

Sudden unexpected death is an upsetting event, which can remain unexplained even after post-mortem investigation. Internationally, molecular autopsies have shown to resolve up to 44% of unexplained cases; however, it is currently unclear how many of these were infants. This systematic literature review showed that significantly fewer infant cases were resolved (median: 4%) compared with cohorts of 1 to 45 years old (median: 32%). Further, no study involving indigenous African participants has yet been published. Overall, molecular autopsies hold immense value to living family members and is motivation to explore new avenues in infant cohorts.

摘要

猝死是一件令人苦恼的事情,即使经过尸检调查,也可能仍然无法解释原因。在国际上,分子尸检已被证明能解决高达44%的不明原因病例;然而,目前尚不清楚其中有多少是婴儿病例。这项系统性文献综述表明,与1至45岁的人群(中位数:32%)相比,通过分子尸检解决的婴儿病例要少得多(中位数:4%)。此外,尚未发表任何涉及非洲原住民参与者的研究。总体而言,分子尸检对在世的家庭成员具有巨大价值,这也促使人们在婴儿群体中探索新的途径。

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本文引用的文献

1
Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study.
Lancet. 2018 Apr 14;391(10129):1483-1492. doi: 10.1016/S0140-6736(18)30021-7. Epub 2018 Apr 5.
2
Cardiac Genetic Predisposition in Sudden Infant Death Syndrome.
J Am Coll Cardiol. 2018 Mar 20;71(11):1217-1227. doi: 10.1016/j.jacc.2018.01.030.
3
Molecular Autopsy for Sudden Death in the Young: Is Data Aggregation the Key?
Front Cardiovasc Med. 2017 Nov 9;4:72. doi: 10.3389/fcvm.2017.00072. eCollection 2017.
4
Sudden infant death syndrome and inherited cardiac conditions.
Nat Rev Cardiol. 2017 Dec;14(12):715-726. doi: 10.1038/nrcardio.2017.129. Epub 2017 Sep 7.
7
Molecular Autopsy for Sudden Unexpected Death.
JAMA. 2016 Oct 11;316(14):1492-1494. doi: 10.1001/jama.2016.11445.
9
Sudden Infant Death: QT or Not QT? That Is No Longer the Question.
Circ Arrhythm Electrophysiol. 2016 Jun;9(6). doi: 10.1161/CIRCEP.115.003859.
10
Whole-Exome Molecular Autopsy After Exertion-Related Sudden Unexplained Death in the Young.
Circ Cardiovasc Genet. 2016 Jun;9(3):259-65. doi: 10.1161/CIRCGENETICS.115.001370. Epub 2016 Apr 25.

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