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Tourette's syndrome (TS) is a genetically influenced developmental neuropsychiatric disorder characterized by chronic vocal and motor tics. We studied Slit and Trk-like 1 (SLITRK1) as a candidate gene on chromosome 13q31.1 because of its proximity to a de novo chromosomal inversion in a child with TS. Among 174 unrelated probands, we identified a frameshift(More)
BACKGROUND High plasma HDL cholesterol is associated with reduced risk of myocardial infarction, but whether this association is causal is unclear. Exploiting the fact that genotypes are randomly assigned at meiosis, are independent of non-genetic confounding, and are unmodified by disease processes, mendelian randomisation can be used to test the(More)
S ince the 2006 update of the American Heart Association (AHA)/American College of Cardiology Foundation (ACCF) guidelines on secondary prevention (1), important evidence from clinical trials has emerged that further supports and broadens the merits of intensive risk-reduction therapies for patients with established coronary and other atherosclerotic(More)
BACKGROUND In patients with stable coronary artery disease, it remains unclear whether an initial management strategy of percutaneous coronary intervention (PCI) with intensive pharmacologic therapy and lifestyle intervention (optimal medical therapy) is superior to optimal medical therapy alone in reducing the risk of cardiovascular events. METHODS We(More)
Advances in the therapeutic options for cardiovascular disease, coupled with improvements in imaging technology, have led to an explosive growth in the performance of cardiovascular imaging. Yet this growth is challenging to interpret as it may represent appropriate use, underuse (i.e., the failure to provide services from which the patient would likely(More)
OBJECTIVES The National Cardiovascular Data Registry (NCDR) developed the Data Quality Program to meet the objectives of ensuring the completeness, consistency, and accuracy of data submitted to the observational clinical registries. The Data Quality Program consists of 3 main components: 1) a data quality report; 2) a set of internal quality assurance(More)
BACKGROUND During the past decade, survival after in-hospital cardiac arrest has improved markedly. It remains unknown whether the improvement in survival has occurred uniformly at all hospitals or was driven by large improvements at only a few hospitals. METHODS AND RESULTS We identified 93 342 adults with an in-hospital cardiac arrest at 231 hospitals(More)
The ability to quantify the quality of cardiovascular care critically depends on the translation of recommendations for high-quality care into the measurement of that care. As payers and regulatory agencies increasingly seek to quantify healthcare quality, the implications of the measurement process on practicing physicians are likely to grow. This(More)
BACKGROUND Ezetimibe lowers plasma levels of low-density lipoprotein (LDL) cholesterol by inhibiting the activity of the Niemann-Pick C1-like 1 (NPC1L1) protein. However, whether such inhibition reduces the risk of coronary heart disease is not known. Human mutations that inactivate a gene encoding a drug target can mimic the action of an inhibitory drug(More)