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Chromosomal Microdeletions And Genes' Functions: A Cluster Of Chromosomal Microdeletions And The Deleted Genes' Functions, David Tilstra Md, Kevin Martens, Inge Heulens, Sandra Meulemans

Articles

Hypotonia-cystinuria syndrome (HCS) is a recessive disorder caused by microdeletions of SLC3A1 and PREPL on chromosome 2p21. Patients present with generalized hypotonia at birth, failure to thrive, growth retardation and cystinuria type I. While the initially described HCS families live in small regions in Belgium and France, we have now identified HCS alleles in patients and carriers from the Netherlands, Italy, Canada and United States of America. Surprisingly, among the nine deletions detected in those patients, only one novel deletion was found. Furthermore, one previously described deletion was found six times, another twice. Finally, we have investigated the frequency of …

Reduced Atrial Tachyarrhythmia Susceptibility After Upgrade Of Conventional Implanted Pulse Generator To Cardiac Resynchronization Therapy In Patients With Heart Failure, Demetris Yannopoulos, Keith Lurie Md, Scott Sakaguchi, Simon Milstein Md

Articles

OBJECTIVES:

We sought to identify the impact of cardiac resynchronization therapy (CRT) on atrial tachyarrhythmia (AT) susceptibility in patients with left ventricular (LV) systolic dysfunction in whom worsening heart failure (HF) resulted in upgrade from conventional dual-chamber pulse generator to cardiac resynchronization therapy-defibrillator (CRT-D).

BACKGROUND:

Cardiac resynchronization therapy with a defibrillator improves survival rates and symptoms in patients with LV systolic dysfunction but little is known about its effects on AT incidence in the same patient population.

METHODS:

Twenty-eight consecutive HF patients who underwent device upgrade to CRT-D were included. Patients had > or =2 device interrogations in the 1 year …