Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients.

Hemochromatosis type 4 is a rare form of primary iron overload transmitted as an autosomal dominant trait caused by mutations in the gene encoding the iron transport protein ferroportin 1 (SLC40A1). SLC40A1 mutations fall into two functional categories (loss- versus gain-of-function) underlying two distinct clinical entities (hemochromatosis type 4A versus type 4B). However, the vast majority of SLC40A1 mutations are rare missense variations, with only a few showing strong evidence of causality.

Syncope without prodromes in patients with normal heart and normal electrocardiogram: a distinct entity.

Objectives: This study sought to investigate the clinical and laboratory findings of patients affected by sudden-onset syncope without prodromes who had a normal heart and normal electrocardiogram.

Background: The pathophysiology of syncope in these patients is uncertain.

Methods: We compared the clinical and laboratory findings of 15 patients with sudden-onset syncope without prodromes who had a normal heart and normal electrocardiogram (the study group) with those of 31 patients with established vasovagal syncope (VVS).

A2A adenosine receptor function in patients with vasovagal syncope.

Aims: Adenosine is a possible mediator in vasovagal syncope (VVS) via the activation of its receptors. High expression of adenosine A2A receptors (A2AR) has been reported in VVS. The function of these over-expressed receptors in this population has never been evaluated.