Upper- and lower-body fat depots exhibit opposing associations with obesity-related metabolic disease. We defined the relationship between DEXA-quantified fat depots and diabetes/cardiovascular risk factors in a healthy population-based cohort (n = 3,399). Gynoid fat mass correlated negatively with insulin resistance after total fat mass adjustment, whereas the opposite was seen for abdominal f...

BACKGROUND Congenital limb malformations (CLMs) are common and present to a variety of specialties, notably plastic and orthopaedic surgeons, and clinical geneticists. The authors aimed to characterise causative mutations in an unselected cohort of patients with CLMs requiring reconstructive surgery. METHODS 202 patients presenting with CLM were recruited. The authors obtained G-banded karyot...

Horseshoe lung is an uncommon congenital malformation in which the bases of the right and the left lungs are fused to each other by a narrow isthmus posterior to the cardiac apex (1). There have been 52 case reports in the English literature. Holt-Oram syndrome is characterized by cardiac septation defects and preaxial radial ray abnormalities (2). To our knowledge, it is the first report of ho...

BACKGROUND Atrial fibrillation (AF) affects >30 million individuals worldwide and is associated with an increased risk of stroke, heart failure, and death. AF is highly heritable, yet the genetic basis for the arrhythmia remains incompletely understood. METHODS AND RESULTS To identify new AF-related genes, we used a multifaceted approach, combining large-scale genotyping in 2 ethnically disti...