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1.
J Forensic Sci ; 68(6): 2065-2075, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37614113

RESUMO

Sudden unexplained death in the young poses a diagnostically challenging situation for practicing autopsy pathologists, especially in the absence of anatomic and toxicological findings. Postmortem genetic testing may identify pathogenic variants in the deceased of such cases, including those associated with arrhythmogenic channelopathies and cardiomyopathies. The Wisconsin State Laboratory of Hygiene (WSLH) is a state-run public health laboratory which performs postmortem genetic testing at no cost to Wisconsin medical examiners and coroners. The current study examines sequencing data from 18 deceased patients (ages 2 months to 49 years, 5 females) submitted to WSLH, from 2016 to 2021. Panel-based analysis was performed on 10 cases, and whole exome sequencing was performed on the most recent 8 cases. Genetic variants were identified in 14 of 18 decedents (77.8%), including 7 with pathogenic or likely pathogenic variants (38.9%). Whole exome sequencing was more likely to yield a positive result, more variants per decedent, and a larger number of variants of uncertain significance. While panel-based testing may offer definitive pathogenic variants in some cases, less frequent variants may be excluded. Whole exome testing may identify rare variants missed by panels, but increased yield of variants of uncertain significance may be difficult to interpret. Postmortem genetic testing in young decedents of sudden unexplained death can provide invaluable information to autopsy pathologists to establish accurate cause and manner of death and to decedent's relatives to allow appropriate management. A public health laboratory model may be a financially advisable alternative to commercial laboratories for medical examiner's/coroner's offices.


Assuntos
Laboratórios , Saúde Pública , Feminino , Humanos , Autopsia , Testes Genéticos , Morte Súbita/etiologia , Morte Súbita Cardíaca/etiologia
2.
Am J Forensic Med Pathol ; 44(2): 118-121, 2023 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-36799759

RESUMO

ABSTRACT: Fractal wood burning is a form of pyrography that uses high-voltage electricity to burn branching, Lichtenberg-type patterns into a wooden canvas. This process often uses electrical transformers salvaged from household appliances, such as microwave ovens, to amplify available voltage to potentially lethal levels. In this case, 2 individuals were found dead inside their burned residential garage. Initially, law enforcement was suspicious of a double homicide with subsequent arson. However, postmortem examination showed the decedents had neither fatal antemortem trauma nor significant natural disease. Findings consistent with smoke inhalation were absent, suggesting that the victims were deceased before the fire. Interestingly, one decedent had jumper cables in their hand, and their recent computer activity included fractal wood burning-related content. Upon further scene investigation, 2 microwave ovens were identified in the garage, one of which had been disassembled with its transformer found adjacent to the bodies. The decedents likely died from high-voltage electrocution with ignition of the wooden canvas starting the structural fire. Since the first reported case in 2016, there have been 33 reported deaths attributed to fractal wood burning. The current study would be the first to report multiple fatalities due to a single fractal wood burning event.


Assuntos
Queimaduras , Lesões dos Tecidos Moles , Humanos , Madeira , Fractais , Homicídio , Acidentes
3.
Ann Thorac Surg ; 114(1): e17-e19, 2022 07.
Artigo em Inglês | MEDLINE | ID: mdl-34748736

RESUMO

Lung transplantation has been well described for patients with coronavirus disease 2019 (COVID-19) in the acute setting, but less so for the resulting pulmonary sequelae. This report describes a case of lung transplantation for post-COVID-19 pulmonary fibrosis. A 52-year-old woman contracted COVID-19 in July 2020 and mounted a partial recovery, but she went on to have declining function over the ensuing 3 months, with development of fibrocystic lung changes. She underwent bilateral lung transplantation and recovered rapidly, was discharged home on postoperative day 14, and has done well in follow-up. This case report demonstrates that lung transplantation is an acceptable therapy for post-COVID-19 pulmonary fibrosis.


Assuntos
COVID-19 , Transplante de Pulmão , Fibrose Pulmonar , Feminino , Humanos , Pulmão , Pessoa de Meia-Idade , Fibrose Pulmonar/etiologia , Fibrose Pulmonar/cirurgia
4.
Blood ; 136(20): 2360, 2020 11 12.
Artigo em Inglês | MEDLINE | ID: mdl-33180923
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