Long QT syndrome – Bench to bedside

The long way from bench to bedside

Loss-of-function mutations in the ectodysplasin A gene, EDA, have been associated with X-linked hypohidrotic ectodermal dysplasia (XL-HED) since 1996. In 2003, we made use of this information to engineer a recombinant soluble form of ectodysplasin A that has the potential to revert the disease in mice. Almost 10 years later, a cure is still not available for individuals affected by the disease....

Basic Science for the Clinical Electrophysiologist Short QT Syndrome: From Bench to Bedside

Short QT syndrome (SQTS) is an inheritable primary electric disease of the heart characterized by abnormally short QT intervals on the ECG and an increased propensity to develop atrial and ventricular tachyarrhythmias.1–3 It is a relatively recent addition to the list of inherited channelopathies responsible for sudden cardiac death (SCD) in individuals with structurally normal hearts. Cases of...

From bench to bedside

Because the microcirculation has emerged as an important reanimation target, appropriate methods to monitor the microcirculatory function are crucial. Several teams have now succeeded in crossing this bridge from bench to bedside, but the choice of the tissues of interest remains a debate. The potential accessible vascular beds that doctors could use in reanimation strategies and the relationsh...

Bench to bedside review

From Bench to Bedside

Since the initial experiments nearly a decade ago, remarkable progress has been made in the field of vascular gene transfer, and trials with human subjects already are under way. The potential of vascular wall gene transfer as therapy for various vascular diseases is considerable.1,2 The purpose of this review is 2-fold: (1) to delineate the methods and principles underlying vascular gene trans...