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We report results of a nonsynonymous SNP scan for ulcerative colitis and identify a previously unknown susceptibility locus at ECM1. We also show that several risk loci are common to ulcerative colitis and Crohn's disease (IL23R, IL12B, HLA, NKX2-3 and MST1), whereas autophagy genes ATG16L1 and IRGM, along with NOD2 (also known as CARD15), are specific for(More)
Primary biliary cirrhosis (PBC) is a classical autoimmune liver disease for which effective immunomodulatory therapy is lacking. Here we perform meta-analyses of discovery data sets from genome-wide association studies of European subjects (n=2,764 cases and 10,475 controls) followed by validation genotyping in an independent cohort (n=3,716 cases and 4,261(More)
INTRODUCTION Intussusception of the appendix is an extremely rare condition that ranges from partial invagination of the appendix to involvement of the entire colon. Endometriosis is an exceptionally rare cause of appendiceal intussusception and only very few cases have been reported in the literature to date. CASE PRESENTATION A 40 year-old woman(More)
A 50-year-old male with a 7 month history of progressive dysphagia to solids then subsequently to liquids. He underwent a diagnostic gastroscopy which was normal. A further barium swallow suggested achalasia. He was referred to a tertiary centre, where he underwent pH and manometry studies which confirmed a diagnosis of achalasia. He was referred for a(More)
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