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Journals
Diagnostics
Volume 14
Issue 11
10.3390/diagnostics14111151
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Open AccessSystematic Review
by Luca Tomassini Luca Tomassini SciProfilesScilitPreprints.orgGoogle Scholar Giulia Ricchezze Giulia Ricchezze SciProfilesScilitPreprints.orgGoogle Scholar Piergiorgio Fedeli Piergiorgio Fedeli SciProfilesScilitPreprints.orgGoogle Scholar Massimo Lancia Massimo Lancia SciProfilesScilitPreprints.orgGoogle Scholar Cristiana Gambelunghe Cristiana Gambelunghe SciProfilesScilitPreprints.orgGoogle Scholar Francesco De Micco Francesco De Micco SciProfilesScilitPreprints.orgGoogle Scholar Mariano Cingolani Mariano Cingolani SciProfilesScilitPreprints.orgGoogle Scholar Roberto Scendoni Roberto Scendoni SciProfilesScilitPreprints.orgGoogle Scholar
1
International School of Advanced Studies, University of Camerino, 62032 Camerino, Italy
2
Department of Law, Institute of Legal Medicine, University of Macerata, 62100 Macerata, Italy
3
School of Law, Legal Medicine, University of Camerino, 62032 Camerino, Italy
4
Forensic Medicine, Forensic Science and Sports Medicine Section, Department of Medicine and Surgery, University of Perugia, 06132 Perugia, Italy
5
Research Unit of Bioethics and Humanities, Department of Medicine and Surgery, Università Campus Bio-Medico di Roma, 00128 Roma, Italy
*
Author to whom correspondence should be addressed.
Diagnostics 2024, 14(11), 1151; https://doi.org/10.3390/diagnostics14111151
Submission received: 27 March 2024/Revised: 28 May 2024/Accepted: 29 May 2024/Published: 30 May 2024
(This article belongs to the Special Issue Autopsy for Medical Diagnostics 2.0)
Abstract
Sudden unexpected deaths often remain unresolved despite forensic examination, posing challenges for pathologists. Molecular autopsy, through genetic testing, can reveal hidden causes undetectable by standard methods. This review assesses the role of molecular autopsy in clarifying SUD cases, examining its methodology, utility, and effectiveness in autopsy practice. This systematic review followed PRISMA guidelines and was registered with PROSPERO (registration number: CRD42024499832). Searches on PubMed, Scopus, and Web of Science identified English studies (2018–2023) on molecular autopsy in sudden death cases. Data from selected studies were recorded and filtered based on inclusion/exclusion criteria. Descriptive statistics analyzed the study scope, tissue usage, publication countries, and journals. A total of 1759 publications from the past 5 years were found, with 30 duplicates excluded. After detailed consideration, 1645 publications were also excluded, leaving 84 full-text articles for selection. Out of these, 37 full-text articles were chosen for analysis. Different study types were analyzed. Mutations were identified in 17 studies, totaling 47 mutations. Molecular investigations are essential when standard exams fall short in determining sudden death causes. Expertise in molecular biology is crucial due to diverse genetic conditions. Discrepancies in post-mortem protocols affect the validity of results, making standardization necessary. Multidisciplinary approaches and the analysis of different tissue types are vital.
Keywords: molecular autopsy; sudden unexpected death; sudden death in young people (SUDY); genetic testing; forensic examination; sudden death
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MDPI and ACS Style
Tomassini, L.; Ricchezze, G.; Fedeli, P.; Lancia, M.; Gambelunghe, C.; De Micco, F.; Cingolani, M.; Scendoni, R.New Insights on Molecular Autopsy in Sudden Death: A Systematic Review. Diagnostics 2024, 14, 1151.https://doi.org/10.3390/diagnostics14111151
AMA Style
Tomassini L, Ricchezze G, Fedeli P, Lancia M, Gambelunghe C, De Micco F, Cingolani M, Scendoni R.New Insights on Molecular Autopsy in Sudden Death: A Systematic Review. Diagnostics. 2024; 14(11):1151.https://doi.org/10.3390/diagnostics14111151
Chicago/Turabian Style
Tomassini, Luca, Giulia Ricchezze, Piergiorgio Fedeli, Massimo Lancia, Cristiana Gambelunghe, Francesco De Micco, Mariano Cingolani, and Roberto Scendoni.2024. "New Insights on Molecular Autopsy in Sudden Death: A Systematic Review" Diagnostics 14, no. 11: 1151.https://doi.org/10.3390/diagnostics14111151
Note that from the first issue of 2016, this journal uses article numbers instead of page numbers. See further details here.
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MDPI and ACS Style
Tomassini, L.; Ricchezze, G.; Fedeli, P.; Lancia, M.; Gambelunghe, C.; De Micco, F.; Cingolani, M.; Scendoni, R.New Insights on Molecular Autopsy in Sudden Death: A Systematic Review. Diagnostics 2024, 14, 1151.https://doi.org/10.3390/diagnostics14111151
AMA Style
Tomassini L, Ricchezze G, Fedeli P, Lancia M, Gambelunghe C, De Micco F, Cingolani M, Scendoni R.New Insights on Molecular Autopsy in Sudden Death: A Systematic Review. Diagnostics. 2024; 14(11):1151.https://doi.org/10.3390/diagnostics14111151
Chicago/Turabian Style
Tomassini, Luca, Giulia Ricchezze, Piergiorgio Fedeli, Massimo Lancia, Cristiana Gambelunghe, Francesco De Micco, Mariano Cingolani, and Roberto Scendoni.2024. "New Insights on Molecular Autopsy in Sudden Death: A Systematic Review" Diagnostics 14, no. 11: 1151.https://doi.org/10.3390/diagnostics14111151
Note that from the first issue of 2016, this journal uses article numbers instead of page numbers. See further details here.
Diagnostics,EISSN 2075-4418,Published by MDPI
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