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2.
PLoS One ; 11(12): e0167358, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27930701

RESUMO

BACKGROUND: Sudden unexplained death may be the first manifestation of an unknown inherited cardiac disease. Current genetic technologies may enable the unraveling of an etiology and the identification of relatives at risk. The aim of our study was to define the etiology of natural deaths, younger than 50 years of age, and to investigate whether genetic defects associated with cardiac diseases could provide a potential etiology for the unexplained cases. METHODS AND FINDINGS: Our cohort included a total of 789 consecutive cases (77.19% males) <50 years old (average 38.6±12.2 years old) who died suddenly from non-violent causes. A comprehensive autopsy was performed according to current forensic guidelines. During autopsy a cause of death was identified in most cases (81.1%), mainly due to cardiac alterations (56.87%). In unexplained cases, genetic analysis of the main genes associated with sudden cardiac death was performed using Next Generation Sequencing technology. 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. CONCLUSIONS: Cardiac disease is the most important cause of sudden death, especially after the age of 40. Close to 10% of cases may remain unexplained after a complete autopsy investigation. Molecular autopsy may provide an explanation for a significant part of these unexplained cases. Identification of genetic variations enables genetic counseling and undertaking of preventive measures in relatives at risk.


Assuntos
Morte Súbita , Mudanças Depois da Morte , Adulto , Estudos de Coortes , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem
3.
Am J Disaster Med ; 4(2): 69-71, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-19522122

RESUMO

INTRODUCTION: All kinds of disasters have taken place in the world in last years. The challenge of dealing with disasters is not only the concern of disaster planners, but also of health professionals and the health system as a whole, paediatricians and forensic pathologists included. OBJECTIVE: To analyze the difficulties of application of both the positive and the presumptive criteria in the disaster identification of minor's deaths and the possible collaboration between both specialties. CONCLUSIONS: In a disaster with minor's deaths, the difficulties in the application of disaster identification items affect mainly to minors who are not adolescents. Although the role of pediatrics and paediatricians is the healthcare of minors, it is advisable to have the pediatrician's collaboration in the retrieval and gathering of the medical antemortem data.


Assuntos
Medicina de Desastres/métodos , Planejamento em Desastres , Serviços Médicos de Emergência/organização & administração , Pediatria/métodos , Adolescente , Criança , Proteção da Criança , Humanos , Estados Unidos
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