RESUMO
Coronary atherosclerosis may be underestimated in previously asymptomatic and apparently healthy young people, although it has been reported in various epidemiological studies. Between 7% and 21% of sudden cardiac deaths in previously asymptomatic people aged <45 years are due to three-vessel coronary artery disease. So, clinical services need to vigilant for this condition. We report a single case of sudden death in a young woman who was affected by three-vessel coronary artery disease. This 39-year-old woman attended an emergency department for non-specific chest pain. After a brief observation period, in the absence of signs of an acute myocardial event, she self-discharged. However, she died suddenly the next day. The subsequent autopsy did not show significant pathological findings, although macroscopic examination of the heart revealed critical three-vessel coronary artery disease. Standard histological examination confirmed an atheromatous plaque obstructing >75% of the lumen of the anterior descending artery, complicated by haemorrhagic phenomena, with diffuse calcified and sub-totally occluded atherosclerotic plaques in the other vascular sections, without ischaemic signs of the cardiomyocytes or fibrosis. When young people present with chest pain, they must be carefully evaluated. Risks need to be clearly explained, particularly when self-discharge is requested.
Assuntos
Doença da Artéria Coronariana/complicações , Vasos Coronários/patologia , Morte Súbita Cardíaca/etiologia , Placa Aterosclerótica/patologia , Adulto , Autopsia , Causas de Morte , Feminino , HumanosRESUMO
Monozygotic twins, also known as monovular twins, share an identical genetic heritage because they are two individuals who derive from the same zygote. For this reason, they have been considered indistinguishable. They represent a limit for the application of markers and analytical methods that are routinely used in forensic science because analyses of DNA fragments (short tandem repeats analysed by capillary electrophoresis) are unable to distinguish monozygotic twins. The recent introduction of ultra-deep next generation sequencing in forensic genetics, also known as massively parallel sequencing, has made it possible to identify a number of genetic variations through genome sequencing (such as copy number variations, single nucleotide polymorphisms and DNA methylation) that make it possible to distinguish monozygotic twins. Here, we present a case of ascertaining biological paternity, in which the alleged father had a monozygotic twin brother. This case led to the examination of international law in similar cases in which the only available biological evidence derives from classical forensic genetic analysis, performed with short tandem repeat (autosomal and/or gonosomal) capillary electrophoresis and the probative value, if recognised, of the next generation sequencing technology in the courtroom.