American Journal of Forensic Medicine and Pathology最新文献_第6页

A Multidisciplinary Approach to Navigating Variants of Uncertain Significance in Sudden Infant Deaths: A Case Report of 2 Siblings With an SCN10A VUS. 一种多学科方法来导航婴儿猝死中不确定意义的变异：两名患有SCN10A VUS的兄弟姐妹的病例报告

IF 1 4区医学

American Journal of Forensic Medicine and Pathology Pub Date : 2025-01-02 DOI: 10.1097/PAF.0000000000001008

Renee Dumm, Austin Pagani, Lydia Hellwig, Mark Haigney, Mauricio De Castro, Joel Hughes, John Paul Schacht, William McClain, John Walsh

{"title":"A Multidisciplinary Approach to Navigating Variants of Uncertain Significance in Sudden Infant Deaths: A Case Report of 2 Siblings With an SCN10A VUS.","authors":"Renee Dumm, Austin Pagani, Lydia Hellwig, Mark Haigney, Mauricio De Castro, Joel Hughes, John Paul Schacht, William McClain, John Walsh","doi":"10.1097/PAF.0000000000001008","DOIUrl":"https://doi.org/10.1097/PAF.0000000000001008","url":null,"abstract":"Abstract: The sudden death of a previously healthy infant is a devastating event for a family-the death of 2 even more unimaginable. Prior to the debunking of Meadow's law, a legal concept attributing multiple unexplained infant deaths to Munchausen by proxy, these events could lead to the wrongful prosecution of those who had lost their children to \"sudden unexpected infant death (SUID).\" Today, these cases, wherein multiple infants within one family pass inexplicably, raise suspicion for a possible genetic cause and point toward a need for postmortem genetic testing.We present the case of 2 siblings who passed suddenly in infancy, with no structural cause of death identified at autopsy. Genetic testing in both infants found the same variant of uncertain significance, a heterozygous single nucleotide substitution, denoted c.3191C>T, in SCN10A, which encodes a sodium channel with pathogenic variants possibly implicated in sudden cardiac death syndromes. Although it is unclear at this time if the variant of uncertain significance identified was a contributing factor in the deaths, the case emphasized the importance of involving a multidisciplinary team to ensure appropriate pretest and posttest counseling, interpretation of nuanced testing results, and medical follow-up for surviving family members of SUID.","PeriodicalId":55535,"journal":{"name":"American Journal of Forensic Medicine and Pathology","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142924056","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Green Tip 5.56 × 45-mm (NATO M855) Ammunition: Structural Composition, Radiological Features, and Autopsy Findings. 5.56 × 45毫米（北约M855）弹药：结构组成、放射学特征和尸检结果。

IF 1 4区医学

American Journal of Forensic Medicine and Pathology Pub Date : 2024-12-31 DOI: 10.1097/PAF.0000000000001006

Wijesinghe Arachchilage Chamila Lakmali, Lorenzo Gitto

引用次数: 0

Clarifying the Source of "Off-Gassing" During Postmortem: Organophosphate or Solvent? 澄清死后“脱气”的来源：有机磷还是溶剂？

IF 1 4区医学

American Journal of Forensic Medicine and Pathology Pub Date : 2024-12-31 DOI: 10.1097/PAF.0000000000001009

Ananth R Kattamreddy, Jitendra D K Allu

引用次数: 0

Unusual Causes of Death Due to Constipation. 便秘引起的不寻常死亡原因。

IF 1 4区医学

American Journal of Forensic Medicine and Pathology Pub Date : 2024-12-23 DOI: 10.1097/PAF.0000000000001005

Roger W Byard, Marianne Tiemensma

{"title":"Unusual Causes of Death Due to Constipation.","authors":"Roger W Byard, Marianne Tiemensma","doi":"10.1097/PAF.0000000000001005","DOIUrl":"https://doi.org/10.1097/PAF.0000000000001005","url":null,"abstract":"Abstract: Constipation is found in individuals with intellectual disabilities, autism, and cerebral palsy. Although generally a benign condition, it may lead to life-threatening intestinal obstruction, with or without volvulus, or to stercoral ulceration with enteritis and/or perforation. Two unusual cases of lethal chronic constipation are reported to demonstrate other very rare fatal mechanisms that may occur. Case 1: A 17-year-old male with cerebral palsy and autism was found deceased in bed. Death was due to pulmonary thromboembolism arising from compression of pelvic veins by acquired megacolon due to constipation (fecal mass 4.6 kg). Case 2: A second 17-year-old male with intellectual disability, global developmental delay, attention deficit disorder, seizures, and hypotonia collapsed and died during a medical evacuation from a remote community. Death was due to abdominal compartment syndrome in the context of medical air transport (medical retrieval), chronic constipation with acquired megacolon and megarectum (fecal mass 6.5 kg), global developmental delay, intellectual disability, and a suspected underlying genetic syndrome. These cases demonstrate that individuals with constipation may present for medicolegal assessment following sudden collapse/death and that pulmonary thromboembolism and abdominal compartment syndrome should be considered as rare possibilities in the evaluation of vulnerable individuals.","PeriodicalId":55535,"journal":{"name":"American Journal of Forensic Medicine and Pathology","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142924051","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The Postmortem Pathology of Sudden Death in Chronic Alcohol Exposure and Acute Alcohol Intoxication: A Review of Medicolegal Considerations, Traumatic and Systemic Pathology, and Biochemical Mechanisms. 慢性酒精暴露和急性酒精中毒猝死的死后病理：医学法律考虑、创伤性和系统性病理以及生化机制的综述。

IF 1 4区医学

American Journal of Forensic Medicine and Pathology Pub Date : 2024-12-23 DOI: 10.1097/PAF.0000000000001000

Harry R Haynes, Patrick J Gallagher, Maria H Thom, Reza A Morovat, Russell J Delaney, Amanda J Jeffery

引用次数: 0

Incidental Finding of an Early-Stage Intrauterine Pregnancy at Autopsy. 尸检意外发现早期宫内妊娠

IF 1 4区医学

American Journal of Forensic Medicine and Pathology Pub Date : 2024-12-20 DOI: 10.1097/PAF.0000000000001007

Garrett Phillips

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Fatal Tension Gastrothorax: Two Case Reports. 致死性紧张性胃胸2例报告。

IF 1 4区医学

American Journal of Forensic Medicine and Pathology Pub Date : 2024-12-13 DOI: 10.1097/PAF.0000000000001003

Michael Andrew Johnstone, Sam Hoggard, Joanna Dixon

引用次数: 0

Illustrated Forensic Pathology: Necklacing. 插图法医病理学：项链。

IF 1 4区医学

American Journal of Forensic Medicine and Pathology Pub Date : 2024-12-11 DOI: 10.1097/PAF.0000000000001004

Ryan Blumenthal, Robert Maximilian

引用次数: 0

Human Herpesvirus 6 Encephalitis: An Autopsy Case and Literature Review. 人类疱疹病毒6型脑炎：一例尸检病例及文献复习。

IF 1 4区医学

American Journal of Forensic Medicine and Pathology Pub Date : 2024-12-02 DOI: 10.1097/PAF.0000000000001002

Naoto Tani, Takaki Ishikawa

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Tolerant or Intolerant? Learning From Studying Drug Concentrations in the Living and the Dead. 宽容还是不宽容？从研究活人和死人体内的药物浓度中学习。

IF 1 4区医学

American Journal of Forensic Medicine and Pathology Pub Date : 2024-12-01 Epub Date: 2024-06-12 DOI: 10.1097/PAF.0000000000000962

Laura M Labay, Sherri L Kacinko, Brittany K Casey, Justin O Brower

{"title":"Tolerant or Intolerant? Learning From Studying Drug Concentrations in the Living and the Dead.","authors":"Laura M Labay, Sherri L Kacinko, Brittany K Casey, Justin O Brower","doi":"10.1097/PAF.0000000000000962","DOIUrl":"10.1097/PAF.0000000000000962","url":null,"abstract":"A bstract: Tolerance is the diminished response to a drug that occurs when that drug is repeatedly used, and the body adapts to its continued presence. This means that greater blood concentrations are required to achieve desired effects, produce impairment, or cause death. Without case-specific information, the pharmacodynamic impacts of a drug on an individual are difficult to ascertain based on its concentration alone. One starting point, however, is to compare reported findings with reference ranges associated with therapeutic, toxic, and lethal outcomes. Toxicologists have observed concentrations dramatically increase over time in the living population for some drugs to concentrations that can easily be associated with impairment and lethal outcomes. It is, therefore, important to continually monitor and be familiar with drug concentrations found in the living to interpret postmortem concentrations. To emphasize this approach, we compared fentanyl concentrations from JAN 2010 to OCT 2023 in individuals investigated for driving under the influence of drugs to postmortem cases. This comparison highlights the changing nature of tolerance, stresses the importance of not relying solely on reference ranges for result interpretations, and discusses the importance of the autopsy in identifying or ruling out other potential causes of death.","PeriodicalId":55535,"journal":{"name":"American Journal of Forensic Medicine and Pathology","volume":" ","pages":"292-296"},"PeriodicalIF":1.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141635999","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0