An FBN1 deep intronic variant is associated with pseudoexon formation and a variable Marfan phenotype in a five generation family.

Exome sequencing of genes associated with heritable thoracic aortic disease (HTAD) failed to identify a pathogenic variant in a large family with Marfan syndrome (MFS). A genome-wide linkage analysis for thoracic aortic disease identified a peak at 15q21.1, and genome sequencing identified a novel deep intronic FBN1 variant that segregated with thoracic aortic disease in the family (LOD score 2.

Comprehensive hospital care improvement strategies reduce time to treatment in ST-elevation acute myocardial infarction.

Background: Delay in treatment of patients with ST-elevation acute myocardial infarction (STEMI) has an adverse effect on patient outcomes. Limited data are available on the effectiveness of hospital care improvement strategies (HCIS) to reduce time to reperfusion by percutaneous coronary intervention (PCI). This study evaluated the combined effect of HCIS implementation to reduce door-to-balloon time in patients with STEMI.

Pharmacological thromboembolic prophylaxis for medical patients in a tertiary care, teaching community hospital: room for improvement.

Venous Thrombembolism (VTE) is a potentially lethal complication in hospitalized patients. Studies indicate that pharmacological prophylaxis may reduce the incidence of VTE. However, the use of VTE prophylaxis remains unclear.