{"title":"日本猝死的分子解剖。","authors":"Takuma Yamamoto, Yuko Emoto, Takehiko Murase, Takahiro Umehara, Aya Miura, Minori Nishiguchi, Kazuya Ikematsu, Hajime Nishio","doi":"10.1293/tox.2023-0080","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":17437,"journal":{"name":"Journal of Toxicologic Pathology","volume":"1 1","pages":"1-10"},"PeriodicalIF":0.9000,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10811381/pdf/","citationCount":"0","resultStr":"{\"title\":\"Molecular autopsy for sudden death in Japan.\",\"authors\":\"Takuma Yamamoto, Yuko Emoto, Takehiko Murase, Takahiro Umehara, Aya Miura, Minori Nishiguchi, Kazuya Ikematsu, Hajime Nishio\",\"doi\":\"10.1293/tox.2023-0080\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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.</p>\",\"PeriodicalId\":17437,\"journal\":{\"name\":\"Journal of Toxicologic Pathology\",\"volume\":\"1 1\",\"pages\":\"1-10\"},\"PeriodicalIF\":0.9000,\"publicationDate\":\"2024-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10811381/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Toxicologic Pathology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1293/tox.2023-0080\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2023/8/30 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q4\",\"JCRName\":\"PATHOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Toxicologic Pathology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1293/tox.2023-0080","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/8/30 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"PATHOLOGY","Score":null,"Total":0}
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.
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.