Novel Crohn Disease Locus Identified by Genome-Wide Association Maps to a Gene Desert on 5p13.1 and Modulates Expression of PTGER4

To identify novel susceptibility loci for Crohn disease (CD), we undertook a genome-wide association study with more than 300,000 SNPs characterized in 547 patients and 928 controls. We found three chromosome regions that provided evidence of disease association with p-values between 10(−6) and 10(−9). Two of these (IL23R on Chromosome 1 and CARD15 on Chromosome 16) correspond to genes previously reported to be associated with CD. In addition, a 250-kb region of Chromosome 5p13.1 was found to contain multiple markers with strongly suggestive evidence of disease association (including four markers with p < 10(−7)). We replicated the results for 5p13.1 by studying 1,266 additional CD patients, 559 additional controls, and 428 trios. Significant evidence of association (p < 4 × 10(−4)) was found in case/control comparisons with the replication data, while associated alleles were over-transmitted to affected offspring (p < 0.05), thus confirming that the 5p13.1 locus contributes to CD susceptibility. The CD-associated 250-kb region was saturated with 111 SNP markers. Haplotype analysis supports a complex locus architecture with multiple variants contributing to disease susceptibility. The novel 5p13.1 CD locus is contained within a 1.25-Mb gene desert. We present evidence that disease-associated alleles correlate with quantitative expression levels of the prostaglandin receptor EP4, PTGER4, the gene that resides closest to the associated region. Our results identify a major new susceptibility locus for CD, and suggest that genetic variants associated with disease risk at this locus could modulate cis-acting regulatory elements of PTGER4

De la malnutrition a la denutrition

SCOPUS: ar.jinfo:eu-repo/semantics/publishe

Image-enhanced capsule endoscopy for characterization of small bowel lesions

Video capsule endoscopy has revolutionized direct endoscopic imaging of the gut. Small-bowel video capsule endoscopy (SBVCE) is now the first-line procedure for exploring the small bowel in case of obscure digestive bleeding and has also some room in case of Crohn's disease, coeliac disease and polyposis syndrome. In case of obscure digestive bleeding the main lesions are angioectasias, erosions/ulcerations and tumors. As for conventional optical endoscopy search was done for improving the detection and characterization of small-bowel lesions. The Fujinon Intelligent Chromoendoscopy (FICE) has been adapted on the software of the SBVCE (Given Imaging®/Medtronics). Although there are some conflicting results on the efficacy of FICE for detecting more lesions than with conventional light, it is now recognized that FICE - particularly the setting 1 - may enhance the delineation or characterization of lesions. The use of three-dimensional representation technique is now feasible but still needs further research.SCOPUS: ar.jinfo:eu-repo/semantics/publishe

Assessment of lipid peroxidation in humans by breath pentane output measurement

SCOPUS: cp.jinfo:eu-repo/semantics/publishe

Clinical profile of home parenteral nutrition patients

SCOPUS: cp.jinfo:eu-repo/semantics/publishe

Nutrition artificielle: de l'hopital au domicile.

SCOPUS: ar.jinfo:eu-repo/semantics/publishe

Les radicaux libres: applications cliniques en hépatogastro-enterologie (résumé)

SCOPUS: cp.jinfo:eu-repo/semantics/publishe

Macroamylasemia: a biochemical or clinical problem?

SCOPUS: re.jinfo:eu-repo/semantics/publishe

Guidelines for colorectal cancer screening - A puzzle of tests and strategies

Colorectal cancer (CRC) is a leading cause of cancer death around the World. An effective way to reduce colorectal cancer mortality is to screen for it and its precursor, the adenoma. In industrialized countries the mortality related to CRC is decreasing probably due to better screening programmes in average-risk individuals as well as changes in risk factors. Screening procedures are various including faecal screening tests - which primarily detect colon cancer - and structural tests (endoscopy - flexible sigmoidoscopy or colonoscopy -, Barium enema, Computed Tomography Colonography) that may detect not only cancer but also its precursors. Video-colon capsule is a new tool for exploring the colon but needs further studies before becoming a screening test. The choice of a screening test includes several factors as cost, invasiveness, acceptability, adherence to repeat testing and acceptance referral for colonoscopy for positive tests as well as local financial resources. Every screening programme has advantages and limitations. Enhancing use and quality of CRC screening programmes is mandatory.SCOPUS: ar.jinfo:eu-repo/semantics/publishe