Cargando…

Unveiling a sudden unexplained death case by whole exome sequencing and bioinformatic analysis

BACKGROUND: Sudden unexplained death (SUD) refers to cases of sudden death where autopsy fails to identify any cardiac or extracardiac underlying cause. Guideline‐directed standard genetic testing identifies a disease‐causing mutation in less than one‐third of cases of SUD. Conversely, whole exome s...

Descripción completa

Detalles Bibliográficos
Autores principales:	Modena, Martina, Castiglione, Vincenzo, Aretini, Paolo, Mazzanti, Chiara M., Chiti, Enrica, Giannoni, Alberto, Emdin, Michele, Di Paolo, Marco
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2020
Materias:	Clinical Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7196487/ https://www.ncbi.nlm.nih.gov/pubmed/32101375 http://dx.doi.org/10.1002/mgg3.1182

Ejemplares similares

Molecular Autopsy of Sudden Cardiac Death in the Genomics Era
por: Castiglione, Vincenzo, et al.
Publicado: (2021)

Sudden unexplained death due to cardiac arrest
por: Precone, Vincenza, et al.
Publicado: (2019)

Whole exome sequencing with a focus on cardiac disease-associated genes in families of sudden unexplained deaths in Yunnan, southwest of China
por: Wei, Si-Jie, et al.
Publicado: (2023)

Whole-exome analysis in osteosarcoma to identify a personalized therapy
por: Chiappetta, Caterina, et al.
Publicado: (2017)

Post-Mortem Cardiac Magnetic Resonance in Explanted Heart of Patients with Sudden Death
por: Aquaro, Giovanni Donato, et al.
Publicado: (2022)

Identification of New Potential Prognostic and Predictive Markers in High-Grade Osteosarcoma Using Whole Exome Sequencing
por: Gaeta, Raffaele, et al.
Publicado: (2023)

Compound and heterozygous mutations of KCNQ1 in long QT syndrome with familial history of unexplained sudden death: Identified by analysis of whole exome sequencing and predisposing genes
por: Lin, Yubi, et al.
Publicado: (2019)

Scared to Death: Emotional Stress Causing Fatal Myocardial Infarction With Nonobstructed Coronary Arteries in Women
por: Aimo, Alberto, et al.
Publicado: (2020)

Sudden Unexplained Death in Childhood: A Neuropathology Review
por: McGuone, Declan, et al.
Publicado: (2020)

Editorial: New Approaches to the Pathogenesis of Sudden Intrauterine Unexplained Death and Sudden Infant Death Syndrome
por: Lavezzi, Anna M., et al.
Publicado: (2017)

Whole Exome Sequencing Reveals Novel Variants in Unexplained Erythrocytosis
por: Khurana, Harshit, et al.
Publicado: (2023)

Differential Methylation in the GSTT1 Regulatory Region in Sudden Unexplained Death and Sudden Unexpected Death in Epilepsy
por: Christiansen, Steffan Noe, et al.
Publicado: (2021)

Sudden unexplained death in a patient with HIV and MDR-TB
por: Boxall, E, et al.
Publicado: (2010)

Sudden Unexplained Nocturnal Death Syndrome: The Hundred Years' Enigma
por: Zheng, Jingjing, et al.
Publicado: (2018)

Neurochemical Alterations in Sudden Unexplained Perinatal Deaths—A Review
por: Muhammad, Nazeer, et al.
Publicado: (2018)

Non-diagnostic autopsy findings in sudden unexplained death victims
por: Yazdanfard, Puriya Daniel, et al.
Publicado: (2020)

Proteomic differences in hippocampus and cortex of sudden unexplained death in childhood
por: Leitner, Dominique F., et al.
Publicado: (2022)

Cytoarchitectural and Functional Abnormalities of the Inferior Colliculus in Sudden Unexplained Perinatal Death
por: Lavezzi, Anna M., et al.
Publicado: (2015)

Seasonal Timing of Infant Bronchiolitis, Apnea and Sudden Unexplained Infant Death
por: Sloan, Chantel D., et al.
Publicado: (2016)

Rescuing cones and daylight vision in retinitis pigmentosa mice
por: Guadagni, Viviana, et al.
Publicado: (2019)

Confirmation of Cause of Death Via Comprehensive Autopsy and Whole Exome Molecular Sequencing in People With Epilepsy and Sudden Unexpected Death
por: Chahal, C. Anwar A., et al.
Publicado: (2021)

Localized Structural Alterations Underlying a Subset of Unexplained Sudden Cardiac Death
por: Haïssaguerre, Michel, et al.
Publicado: (2018)

Sudden intrauterine unexplained death: time to adopt uniform postmortem investigative guidelines?
por: Lavezzi, Anna M., et al.
Publicado: (2019)

Editorial: Updates on the Neuropathology of Sudden Unexplained Perinatal Death and Other Neurodevelopmental Disorders
por: Lavezzi, Anna Maria, et al.
Publicado: (2021)

Medical Autopsy for Sudden Unexplained Death in Saudi Arabia: A Call to Action
por: Alqarawi, Wael, et al.
Publicado: (2022)

Reevaluation of ambiguous genetic variants in sudden unexplained deaths of a young cohort
por: Martinez-Barrios, Estefanía, et al.
Publicado: (2023)

Molecular Diagnosis of COVID-19 Sudden and Unexplained Deaths: The Insidious Face of the Pandemic
por: Lisman, Dagmara, et al.
Publicado: (2023)

Genetic Analysis of Children With Unexplained Developmental Delay and/or Intellectual Disability by Whole-Exome Sequencing
por: Xiang, Jingjing, et al.
Publicado: (2021)

Identification of genetic polymorphisms in unexplained recurrent spontaneous abortion based on whole exome sequencing
por: Mou, Jiang-Tao, et al.
Publicado: (2022)

Ependymal alterations in sudden intrauterine unexplained death and sudden infant death syndrome: possible primary consequence of prenatal exposure to cigarette smoking
por: Lavezzi, Anna M, et al.
Publicado: (2010)

2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families
por: Stiles, Martin K., et al.
Publicado: (2021)

2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families
por: Stiles, Martin K., et al.
Publicado: (2020)

Correction: Aquaro et al. Post-Mortem Cardiac Magnetic Resonance in Explanted Heart of Patients with Sudden Death. Int. J. Environ. Res. Public Health 2022, 19, 13395
por: Aquaro, Giovanni Donato, et al.
Publicado: (2023)

Dysembryoplastic neuroepithelial tumor and probable sudden unexplained death in epilepsy: a case report
por: Sîrbu, Carmen-Adella
Publicado: (2011)

Evidence for brainstem network disruption in temporal lobe epilepsy and sudden unexplained death in epilepsy
por: Mueller, Susanne G., et al.
Publicado: (2014)

The prevalence of HIV in the sudden, unexplained and unexpected death population at the Pretoria Medico-Legal Laboratory
por: Morris, Neil K., et al.
Publicado: (2016)

The burden of splice-disrupting variants in inherited heart disease and unexplained sudden cardiac death
por: Singer, Emma S., et al.
Publicado: (2023)

Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea
por: Tong, Wenjia, et al.
Publicado: (2018)

Sudden unexplained death in alcohol misuse (SUDAM) patients have different characteristics to those who died from sudden arrhythmic death syndrome (SADS)
por: Sorkin, Tracy, et al.
Publicado: (2017)

Evaluation of Concordance Between Original Death Certifications and an Expert Panel Process in the Determination of Sudden Unexplained Death in Childhood
por: Crandall, Laura Gould, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_qas90tf5p048fd8mujpji8isbf