Molecular autopsy for sudden death in Japan.

IF 0.9 4区 医学 Q4 PATHOLOGY Journal of Toxicologic Pathology Pub Date : 2024-01-01 Epub Date: 2023-08-30 DOI:10.1293/tox.2023-0080
Takuma Yamamoto, Yuko Emoto, Takehiko Murase, Takahiro Umehara, Aya Miura, Minori Nishiguchi, Kazuya Ikematsu, Hajime Nishio
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Abstract

Japan has various death investigation systems; however, external examinations, postmortem computed tomography, macroscopic examinations, and microscopic examinations are performed regardless of the system used. These examinations can reveal morphological abnormalities, whereas the cause of death in cases with non-morphological abnormalities can be detected through additional examinations. Molecular autopsy and postmortem genetic analyses are important additional examinations. They are capable of detecting inherited arrhythmias or inherited metabolic diseases, which are representative non-morphological disorders that cause sudden death, especially in infants and young people. In this review, we introduce molecular autopsy reports from Japan and describe our experience with representative cases. The relationships between drug-related deaths and genetic variants are also reviewed. Based on the presented information, molecular autopsy is expected to be used as routine examinations in death investigations because they can provide information to save new lives.

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日本猝死的分子解剖。
日本有各种死亡调查系统,但无论使用哪种系统,都要进行外部检查、死后计算机断层扫描、宏观检查和显微镜检查。这些检查可发现形态异常,而非形态异常病例的死因则可通过其他检查发现。分子解剖和死后基因分析是重要的附加检查。它们能够检测出遗传性心律失常或遗传性代谢性疾病,这些都是导致猝死(尤其是婴幼儿猝死)的代表性非形态疾病。在这篇综述中,我们介绍了日本的分子尸检报告,并介绍了我们对代表性病例的经验。我们还回顾了药物相关死亡与基因变异之间的关系。根据所提供的信息,分子尸检有望成为死亡调查中的常规检查,因为它们可以提供挽救新生命的信息。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Journal of Toxicologic Pathology
Journal of Toxicologic Pathology PATHOLOGY-TOXICOLOGY
CiteScore
2.10
自引率
16.70%
发文量
22
审稿时长
>12 weeks
期刊介绍: JTP is a scientific journal that publishes original studies in the field of toxicological pathology and in a wide variety of other related fields. The main scope of the journal is listed below. Administrative Opinions of Policymakers and Regulatory Agencies Adverse Events Carcinogenesis Data of A Predominantly Negative Nature Drug-Induced Hematologic Toxicity Embryological Pathology High Throughput Pathology Historical Data of Experimental Animals Immunohistochemical Analysis Molecular Pathology Nomenclature of Lesions Non-mammal Toxicity Study Result or Lesion Induced by Chemicals of Which Names Hidden on Account of the Authors Technology and Methodology Related to Toxicological Pathology Tumor Pathology; Neoplasia and Hyperplasia Ultrastructural Analysis Use of Animal Models.
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