Abstract

Genome-wide association studies and candidate-gene based approaches have identified multiple common variants associated with increased risk of sudden cardiac death (SCD). However, the independent contribution of these individual loci to disease risk is modest. To investigate the cumulative [...]

Abstract

A bicuspid aortic valve (BAV) is associated with accelerated aortic valve disease (AVD) and abnormalities in aortic elasticity. We investigated the intima-media thickness of the descending aorta (AoIMT) in patients with AVD with or without an ascending aortic aneurysm (AscAA), in [...]

Abstract

Autism is a neurodevelopmental disorder characterized by commitment to social interaction and communication, associated with restricted interests and stereotyped behaviors. The genetic evidence of neurodevelopmental disorders is widely supported in the medical literature. The most [...]

Abstract

Carvajal syndrome is an autosomal dominant or autosomal recessive disorder, manifesting with dilated cardiomyopathy, woolly hair, and palmoplantar keratoma. Additional manifestations can be occasionally found. Carvajal syndrome may be due to mutations in the desmocollin-2, desmoplakin, [...]

Abstract

El concepto de 'medicina personalizada' se encuentra recientemente en boca de todos en los ambientes biomédicos. Este cambio de paradigma en el modo de entender la sanidad se plantea como la capacidad realizar acciones “a medida” de cada paciente, siguiendo [...]

Abstract

Mejorar el bienestar de la sociedad mediante la optimización de los sistemas de salud es una de las prioridades de nuestra sociedad por ello es imprescindible buscar soluciones para hacerlo sostenible.

La medicina de precisión supone la adaptación [...]