The vast majority of sudden cardiac arrests occur in patients with structural heart disease and in approximately 10% of the cases, it can occur in those with structurally normal hearts. Brugada syndrome is an autosomal dominant sodium channelopathy that has been implicated in sudden deaths. Given their low prevalence, our knowledge about Brugada syndrome is still evolving. Apart from schizophre...

Well known for their role in allergic disorders, mast cells (MCs) play a key role in homeostatic mechanisms and surveillance, recognizing and responding to different pathogens, and tissue injury, with an array of chemical mediators. After being recruited to connective tissues, resident MCs progenitors undergo further differentiation, under the influence of signals from surrounding microenvironm...

BACKGROUND/PURPOSE Ehlers-Danlos syndrome (EDS) is a clinically and genetically heterogeneous connective tissue disorder characterized by hyperextensibility of the skin, hypermobility of joints, and tissue fragility. This retrospective study analyzed the characteristics of patients with EDS. METHODS Review of medical records identified 16 cases of EDS during the study period from November 199...

Prior studies from this laboratory of the elastinelastase-serum elastase inhibitor system disclosed, among other findings, a consistent 2to 3-fold increase in the inhibitor in late pregnancy (Schneider, Walford, and Dignam, 1960). Other disease states, including arteriosclerosis, lupus erythematosus, dermatomyositis, severe liver disease, and nephrotic syndrome, showed mild but inconstant chang...

The Blueprint Genetics Aorta Panel is an efficient genetic diagnostic tool targeted for aortic dilatation and aortic aneurysm diseases. The Aorta Panel covers 18 genes associated with non-syndromic and syndromic aortic disease. Most of the aortic aneurysms associate to non-syndromic dilatation. However, at least 20% of aortic aneurysms are in context of syndromic diseases such as Marfan syndrom...