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儿童突发性不明原因死亡:当前的认识。

Sudden Unexplained Death in Childhood: Current Understanding.

机构信息

Divisions of Newborn Medicine and Genetics and Genomics, Department of Pediatrics, Boston Children’s Hospital and Harvard Medical School, Boston, MA, 02115

Robert’s Program on Sudden Unexplained Death in Pediatrics Boston Children’s Hospital Boston MA 02115 USA.

出版信息

Pediatr Emerg Care. 2023 Dec 1;39(12):984-985. doi: 10.1097/01.pec.0000997588.40847.b0.

DOI:10.1097/01.pec.0000997588.40847.b0
PMID:38019719
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10688964/
Abstract

Sudden, Unexplained Death in Childhood (SUDC) is a term that encompasses apparently natural deaths in children over one year of age with no discernible cause despite a thorough assessment. Definitive underlying causes vary but most cases remain largely unexplained. Research has furthered the view that SUDC is not an accident, but rather a sentinel medical event for which a thorough postmortem investigation is indicated. Emerging evidence in genetics, neurology, and neuropathology point to heterogeneous causes that in some cases share features of recognized diseases.

摘要

儿童突发性不明原因死亡(SUDC)是一个涵盖一岁以上儿童的术语,尽管进行了彻底的评估,但仍没有明显的原因导致这些儿童的自然死亡。确切的根本原因各不相同,但大多数病例仍未得到充分解释。研究进一步表明,SUDC 不是意外,而是一种需要进行彻底尸检调查的预警医疗事件。遗传学、神经学和神经病理学方面的新证据表明,病因具有异质性,在某些情况下与某些已识别疾病具有共同特征。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ffeb/10688964/e40d4b9d837d/nihms-1933128-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ffeb/10688964/e40d4b9d837d/nihms-1933128-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ffeb/10688964/e40d4b9d837d/nihms-1933128-f0001.jpg

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Genetic screening of relatives of decedents experiencing sudden unexpected death: medical examiner's office referrals to a multi-disciplinary cardiogenetics program.猝死死者亲属的基因筛查:法医办公室转介至多学科心脏遗传学项目。
J Community Genet. 2022 Dec;13(6):629-639. doi: 10.1007/s12687-022-00611-1. Epub 2022 Oct 7.
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Impact of cascade screening for catecholaminergic polymorphic ventricular tachycardia type 1.儿茶酚胺多形性室性心动过速 1 型级联筛查的影响。
Heart. 2022 May 12;108(11):840-847. doi: 10.1136/heartjnl-2021-320220.
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Genetic Determinants of Sudden Unexpected Death in Pediatrics.
儿科中突发意外死亡的遗传决定因素。
Genet Med. 2022 Apr;24(4):839-850. doi: 10.1016/j.gim.2021.12.004. Epub 2022 Jan 10.
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Exome Sequencing Highlights a Potential Role for Concealed Cardiomyopathies in Youthful Sudden Cardiac Death.外显子组测序凸显隐匿性心肌病在年轻心脏性猝死中的潜在作用。
Circ Genom Precis Med. 2022 Feb;15(1):e003497. doi: 10.1161/CIRCGEN.121.003497. Epub 2021 Dec 24.
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De novo mutations in childhood cases of sudden unexplained death that disrupt intracellular Ca regulation.儿童突发性不明原因死亡病例中,扰乱细胞内钙调节的新生突变。
Proc Natl Acad Sci U S A. 2021 Dec 28;118(52). doi: 10.1073/pnas.2115140118.
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Investigation on Sudden Unexpected Death in the Young (SUDY) in Europe: results of the European Heart Rhythm Association Survey.欧洲青年猝死(SUDY)调查:欧洲心脏节律协会调查结果。
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