ABSTRACT
The aim of this study was to determine the prevalence of NOD2/CARD15 gene mutations in a group of Moroccan patients with Crohn's disease and to study its correlation with genotype-phenotypic expression. We conducted a cross-sectional case-control study over a period of 16 months. 101 patients with Crohn's disease were enrolled between January 2012 and April 2013 as well as a control group of 107 patients. We performed a genetic analysis to identify 3 NOD2 gene variants: p.Arg702Trp, p.Gly908Arg and p.Leu1007fsins. Then we conducted a study of the correlation between genotype and phenotypic expression. The genetic analysis of patients with Crohn's disease highlighted the presence of NOD2 mutation in 14 patients (13.77%) versus 7 patients (6.53%) in the control group. The study of the frequency of different alleles showed p.Gly908Arg mutation in 6.43%, p.Leu1007fsins in 0.99% and p.Arg702Trp in 0.49% versus 2.80%, 0% and 0.46% in the control group respectively. The study of the correlation between genotype and phenotypic expression showed that CARD15 mutation is associated with ileocecal Crohn's disease, with fistulizing and stenosing behavior in Crohn's disease as well as with severe evolution and frequent recourse to surgery and immunosuppressants. The prevalence of NOD2/ CARD15 mutation in our case series is low. This mutation is correlated with severe Crohn's disease.
Subject(s)
Crohn Disease/genetics , Genetic Predisposition to Disease , Nod2 Signaling Adaptor Protein/genetics , Adolescent , Adult , Alleles , Case-Control Studies , Child , Crohn Disease/physiopathology , Cross-Sectional Studies , Female , Genotype , Humans , Male , Middle Aged , Morocco , Mutation , Phenotype , Prevalence , Severity of Illness Index , Young AdultABSTRACT
Dysphagia lusoria is a rare cause of organic dysphagia. This report describes a series of six patients admitted to our university hospital for dysphagia lusoria. Dysphagia was a constant feature in all our patients. Upper gastrointestinal endoscopy and a barium esophagram prompted the diagnosis, which was confirmed by angiography of the aortic arch showing an aberrant right subclavian artery in all cases. Treatment was surgical in all patients with good results.