In concordance with our results, recent studies performed in post-mortem samples using NGS technology showed percentages of rare variants potentially pathogenic in 30%-40% of samples analyzed [24–26, 54–58]. If it was an organ that died, that organ would have some necrotic tissue on it (blackened) so that could be pinpointed as cause of death. The genetic screening identified a total of 42 rare variants. Therefore, and according to the guidelines, a diagnosis was reached as a cause of death. This can prove tricky for a medical examiner, because once again he does not know the intent if there are not other reports available to help him make that determination. In the young population, the main cause of death was from cardiomyopathies and in younger than 10 years of age, inherited cardiac diseases were the primary cause, also similar to published reports [39–42]. Of them, 82 (43.16%) died of cardiac causes (49 coronary, 11 cardiac causes not specified, 6 DCM, 8 HCM, 1 AC, 3 myocarditis, 2 congenital and 2 fibrosis), 38 (20%) of vascular injuries (15 pulmonary, 9 neurological, 8 aortic and 6 digestive), 28 (14.74%) of respiratory affectations (12 infectious, 7 edema, 3 aspiration, 2 asthmatic and 4 obstructive), 3 (1.58%) of cerebral/neurological pathologies (2 infectious and 1 edema), and 8 (4.21%) of other causes (3 digestive, 4 carcinogenic and 1 multiorganic failure). In all ranges of age, males are a high percentage of death. The range of age is from 0 to 50 years of age (average 38.6±12.2 years old). Yes Fancher was found Tuesday and died at a Champaign County hospital on Thursday. The specific roles of these authors are articulated in the ‘author contributions’ section. Maiden was found […] To date, only one comprehensive study has been performed to prove the value of genetic testing in natural death . We have analyzed a total of 789 SD cases younger than 50 years of age. Recent reports have shown that NGS analysis could become an important asset in post-mortem examination [23–27]. AP-76,464. An autopsy report leaked to the Argentine media, has claimed Diego Maradona died in his sleep after suffering heart failure, according to the Daily Mail. For example, if a person with severe heart problems dies of a heart attack and is found to have a large dose of cocaine in his system, it may not be clear if the heart attack was natural or caused by the cocaine. A total of 2 samples were screened by Sanger method, 5 by NGS. In addition, 51 PPV were identified in 38 cases (31.92%). Deaths were classified depending whether they took place during stress/exercise, during sleep, or during routine daily activities. Genetic analysis was performed in suspected inherited diseases (cardiomyopathy) and in unexplained death, with identification of potentially pathogenic variants in nearly 50% and 40% of samples, respectively. Reviewed by: Michelle Seidel, B.Sc., LL.B., MBA. For more information about PLOS Subject Areas, click In 2015, Vassalini et al reported the presence of ischaemic alterations in 18.5% of a cohort of patients aged less than 40 years, while other studies have underlined higher incidences of coronary related SCD, with percentages ranging between 48 and 73% [34–38]. Sanger screening identified 2 (66.67%) positive samples for rare variants. Out of the 506 cases, the macroscopic investigation defined the following causes of death: cardiac in 230 cases (45.45%)–mainly coronary artery disease (127 cases)-; vascular (embolism or hemorrhage) in 137 cases (27.08%); pulmonary/respiratory in 91 cases (17.98%) -infectious process being responsible for the death in 47 cases, and digestive in 21 cases-; finally, 27 cases (5.34%), had other less common findings which included 8 non-vascular neurological, 7 carcinogenic, 6 endocrinologic, 2 obstetric, 1 infectious and 3 multiorganic failure. We have focused the project in those cases investigated by the pathologists in the Catalonia area (population of 7.5 million people). The difference in our percentage is probably due to the inclusion of population only younger than 50 years of age in our cohort. It remains unclear when to suspect an inherited cardiac disease in most cases, as death is often the first clinical manifestation in the families. However, from the medical standpoint, an unidentified etiology conveys dangerous clinical implications; these unexplained deaths may be caused by an inherited cardiac disease, which potentially leaves family members at risk. In those cases, the handbook recommends the certifier enter "unknown" in the cause-of-death section. In other reports this percentage ranges from 5% to 40%, probably related to the study cohort as well as autopsy protocols [33, 44]. A diagnosis of SIDS is made when the sudden death of an infant remains unexplained even after a thorough investigation is undertaken. The key points of the recommendations were (1.) Competing interests: The commercial funder Gendiag S.L provided support in the form of salaries for authors CF and RB. Of all them, 10 (23.81%) were novel. Cardiac is indicated in black color. Finally, 31 (16.32%) cases were unexplained. The person might not have realized how many pills he was taking or meant to take something else, not sleeping pills. The genetic screening identified a total of 197 rare variants, 6 detected by Sanger method and 191 by NGS method. PLOS ONE 12(2): e0171893. Department of Medical Sciences, School of Medicine, University of Girona, Girona (Spain), The study was approved by the ethics committee of our Hospital, and follows the Helsinki II declaration. The percentage of CAD-related death increased with age and was highest in population above 40 years old, as it was expected. By including molecular diagnostic strategies, the ultimate goal of this work has been to develop a decision algorithm to better refine the forensic investigation, to assess the value of this powerful diagnostic tool in detecting a potential etiology, and to define which families would benefit from further clinical and genetic investigation. In the young population, most cardiomyopathy-related cases died during stress/exercise. If a person receives a gunshot to the head, for example, the medical examiner may conclude a person died of homicide although it may very well been the result of an accident. In almost 50% of samples, more than one rare genetic variant was identified, even in the same gene in some cases. Cardiovascular Genetics Center, University of Girona-IDIBGI, Girona (Spain), Their potential effect as genetic modifiers (either detrimental or protective) of the phenotype is well accepted, but larger and more comprehensive studies will be needed to obtain conclusive data. Vascular is indicated in white color. Lisa Robin Kelly's Cause of Death Remains Unknown Lisa Robin Kelly's Cause of Death Remains Unknown With the autopsy completed, the That '70s Show star's toxicology results will take eight to 10 weeks Other causes are indicated in horizontal lines of grey color. In terms of legality it is a necessity for law enforcement to be able to prove beyond any doubt that the deceased has died of means other than natural causes. Of them, 7 cases (14%) died of cardiac causes (2 DCM, 2 myocarditis, 1 LQTS, 2 cardiac cause not specified), 1 case (2%) of neurological vascular causes, 5 cases (10%) of respiratory affectations (2 infectious, 1 aspiration, 1 asthmatic and 1 obstructive), 3 cases (6%) of cerebral/neurological (2 infectious and 1 malformation), and 1 case (2%) died still birth. A detailed survey was made by comparing the mode and cause of death before and after autopsy. The primary cause of SD was cardiac -81.1%-, similar to other cohorts. "However, 'unknown' should be used only after all possible efforts, including an autopsy… The panel also included structural proteins, as some recent publications have suggested that variants in these genes may be associated with SCD, even in the structurally normal heart . Though, despite these recommendations and the increasing availability of NGS technology, it is yet seldom performed in most forensic centers as part of the autopsy. By Megan Greenwell and James Romoser Columbia Daily Spectator Preliminary reports indicated that Pastron died from natural causes; a full report will come in two weeks. Our criteria classified 14 (38.89%) variants as PPV and/or DM. The final annotation steps provided information included in public databases. In other cases, it might be just the opposite. NGS method identified 4 samples (80%) carrying at least one rare variant, 3 (42.86%) carried variants in genes associated with ion channels, and 4 (57.14%) in genes codifying for structural proteins. The genetic screening by both technologies identified a total of 37 rare variants, 3 detected by Sanger method and 34 by NGS method. Those samples with a good DNA quality were investigated using a custom-made genetic panel, which included 55 genes associated with SCD (ACTC1, ACTN2, ANK2, CACNA1C, CACNB2, CASQ2, CAV3, CRYAB, CSRP3, DES, DMD, DSC2, DSG2, DSP, EMD, FBN1, GLA, GPD1L, HCN4, JPH2, JUP, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYOZ2, PDLIM3, PKP2, PLN, PRKAG2, RYR2, SCN4B, SCN5A, SGCA, SGCB, SGCD, TAZ, TCAP, TGFB3, TGFBR2, TNNC1, TNNI3, TNNT2, TPM1, TTN, and VCL).
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