Gastroesophageal reflux disease management according to contemporary international guidelines:A translational study

AIM:To test the Genval recommendations and the usefulness of a short trial of proton pump inhibitor(PPI) in the initial management and maintenance treatment of gastroesophageal reflux disease(GERD)patients. METHODS:Five hundred and seventy seven patients with heartburn were recruited.After completing a psychometric tool to assess quality of life(PGWBI)and a previously validated GERD symptom questionnaire (QUID),patients were grouped into those with esophagitis(EE,n=306)or without mucosal damage (NERD,n=271)according to endoscopy results. The study started with a 2-wk period of high dose omeprazole(omeprazole test);patients responding to this PPI test entered an acute phase(3 mo)of treatment with any PPI at the standard dose.Finally,those patients with a favorable response to the standard PPI dose were maintained on a half PPI dose for a further 3-mo period. RESULTS:The test was positive in 519(89.9%)patients,with a greater response in EE patients(96.4%) compared with NERD patients(82.6%)(P=0.011). Both the percentage of completely asymptomatic patients,at 3 and 6 mo,and the reduction in heartburn intensity were significantly higher in the EE compared with NERD patients(P<0.01).Finally,the mean PGWBI score was significantly decreased before and increased after therapy in both subgroups when compared with the mean value in a reference Italian population. CONCLUSION:Our study confirms the validity of the Genval guidelines in the management of GERD patients. In addition,we observed that the overall response to PPI therapy is lower in NERD compared to EE patients.

Replication of interleukin 23 receptor and autophagy-related 16-like 1 association in adult-and pediatric-onset inflammatory bowel disease in Italy

AIM: To investigate gene variants in a large Italian inflammatory bowel disease (IBD) cohort, and to analyze the correlation of sub-phenotypes (including age at diagnosis) and epistatic interaction with other IBD genes. METHODS: Total of 763 patients with Crohn's disease (CD, 189 diagnosed at age < 19 years), 843 with ulcerative colitis (UC, 179 diagnosed <19 years), 749 healthy controls, and 546 healthy parents (273 trios) were included in the study. The rs2241880 [autophagy-related 16-like 1 (ATG16L1)], rs11209026 and rs7517847 [interleukin 23 receptor (IL23R)], rs2066844, rs2066845, rs2066847 (CARD15), rs1050152 (OCTN1), and rs2631367 (OCTN2) gene variants were genotyped. RESULTS: The frequency of G allele of ATG16L1 SNP (Ala197Thr) was increased in patients with CD compared with controls (59% vs 54% respectively) (OR = 1.25, CI = 1.08-1.45, P = 0.003), but not in UC (55%). The frequency of A and G (minor) alleles of Arg381Gln, rs11209026 and rs7517847 variants of IL23R were reduced significantly in CD (4%, OR = 0.62, CI = 0.45-0.87, P = 0.005; 28%, OR = 0.64, CI = 0.55-0.75, P < 0.01), compared with controls (6% and 38%, respectively). The A allele (but not G) was also reduced signifi cantly in UC (4%, OR = 0.69, CI = 0.5-0.94, P = 0.019). No association was demonstrated with sub-phenotypes and interaction with CARD15 , and OCTN1/2 genes, although both gene variants were associated with pediatric-onset disease. CONCLUSION: The present study confirms the association of IL23R polymorphisms with IBD, and ATG16L1 with CD, in both adult- and pediatric-onset subsets in our study population.