Assuntos
CADASIL/genética , Éxons , Mutação , Fenótipo , Receptores Notch/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos de Coortes , Análise Mutacional de DNA , Família , Feminino , Humanos , Itália , Masculino , Pessoa de Meia-Idade , Linhagem , Receptor Notch3 , População Branca/genéticaRESUMO
BACKGROUND AND PURPOSE: Although sudden death (SD) accounts for numerous cases of premature mortality in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), the risk factors responsible for this dramatic event remain unclear. We sought possible differences in the QT variability index (QTVI) -- a well-known index of temporal dispersion in myocardial repolarization strongly associated with the risk of SD -- between a group of patients with CADASIL and healthy controls. METHODS: A total of 13 patients with CADASIL and 13 healthy volunteers underwent a 5-min electrocardiogram recording to calculate the QTVI. All the patients also underwent a clinical assessment, including functional status by Rankin score, and a magnetic resonance imaging (MRI) brain scan for quantitative analysis of T2-weighted (T2-W) and T1-weighted (T1-W) lesion volume (LV). RESULTS: Short-term QT-interval analysis showed significantly higher QTVI (P = 0.029) in patients than in controls. In patients, notwithstanding the limitations of the small sample size, QTVI also well correlated with T1-W LV (r = 0.747, P = 0.003) and T2-W LV (r = 0.731, P = 0.005). CONCLUSION: Because patients with CADASIL have increased temporal cardiac repolarization variability as assessed by QTVI, this mechanism could underlie these patients' risk of SD. Whether this easily assessed, non-invasive marker could be used to stratify the risk of malignant ventricular arrhythmias in patients with CADASIL and, possibly, to guide their therapeutic management warrants confirmation from larger prospective studies.
Assuntos
Arritmias Cardíacas/etiologia , CADASIL/complicações , Morte Súbita Cardíaca/etiologia , Adulto , Idoso , Arritmias Cardíacas/diagnóstico , Arritmias Cardíacas/fisiopatologia , Encéfalo/irrigação sanguínea , Encéfalo/patologia , Encéfalo/fisiopatologia , Artérias Cerebrais/patologia , Eletrocardiografia , Feminino , Sistema de Condução Cardíaco/fisiopatologia , Frequência Cardíaca/fisiologia , Ventrículos do Coração/inervação , Ventrículos do Coração/fisiopatologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Projetos Piloto , Valor Preditivo dos TestesAssuntos
Cromossomos Humanos Par 19/genética , Mutação de Sentido Incorreto/genética , Distrofia Miotônica/genética , Distrofia Miotônica/patologia , Canal de Liberação de Cálcio do Receptor de Rianodina/genética , Adulto , Cromatografia Líquida de Alta Pressão , Evolução Fatal , Feminino , Humanos , Reação em Cadeia da Polimerase , Análise de Sequência de DNARESUMO
Necrotizing enterocolitis (NEC) is a multifactorial worldwide problem, representing the most frequent gastrointestinal emergency in neonates. Extremely common in preterm infants, it is also registered in fullterm low birth weight neonates. Despite extensive research, its etiopathogenesis is not completely understood and this neonatal disease remains associated with high morbidity and mortality rates. This review proposes an interdisciplinary focus on recent developments in NEC etiopathogenesis, diagnosis and management.