Congenital short bowel syndrome (CSBS) is an intestinal pediatric disorder, where patients are born with a dramatic shortened small intestine. Pathogenic variants in CLMP were recently identified to cause an autosomal recessive form of the disease. However, due to the rare nature of CSBS, only a small number of patients have been reported to date with variants in this gene. In this report, we describe novel inherited variants in CLMP in three CSBS patients derived from two unrelated families, confirming CLMP as the major gene involved in the development of the recessive form of CSBS.

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BACKGROUND: There is increasing evidence to show that TNF-α -308G>A polymorphism may be a risk factor for celiac disease, but the results are inconsistent. OBJECTIVE: Thus, we aimed to perform a meta-analysis involving published studies up to January 2019 to elucidate the association. METHODS: To assess the effect of TNF-α -308G>A polymorphism on celiac disease susceptibility, we searched PubMed, ISI Web of Knowledge, Chinese National Knowledge Infrastructure (CNKI) databases to identify eligible studies, without restriction. Summary odds ratios (ORs) and 95% confidence intervals (CIs) were used to evaluate the susceptibility to celiac disease. RESULTS: A total of 11 studies with 1147 cases and 1774 controls were selected for this meta-analysis. The pooled results indicated that TNF-α -308G>A polymorphism was associated with increased risk of celiac disease (A vs G: OR=2.077, 95% CI=1.468-2.939, P=≤0.001; AA vs GG: OR=8.512, 95% CI=3.740-19.373, P=≤0.001; AA+AG vs GG: OR=1.869, 95% CI=1.161-3.008, P=0.010; and AA+AG vs GG: OR=4.773, 95% CI=3.181-7.162, P≤0.001). Subgroup analysis by ethnicity also revealed significant association in Caucasians. In addition, there was a significant association between TNF-α -308G>A polymorphism and celiac disease risk in Italy, Spain and PCR-FRLP group studies. CONCLUSION: Our meta-analysis suggests that the TNF-α -308G>A polymorphism plays an important role in celiac disease susceptibility. However, our results are still needed to strengthen by further studies in different ethnicities and larger sample sizes.

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BACKGROUND: There has been little evidence to suggest that the IL-6 -174G>C and IL-10 -1082A>G polymorphisms are significantly associated with susceptibility to celiac disease. Thus, we performed the present meta-analysis to explore the potential association between these polymorphisms and celiac disease risk. METHODS: Eligible studies were searched in PubMed, Medline, Embase, Web of Science and CNKI database up to April 20, 2019. Odds ratios with 95% confidence interval were calculated to assess the potential associations. Moreover, we performed the heterogeneity, sensitivity, and publication bias tests to clarify and validate the pooled results. RESULTS: Overall, nine case-control studies involving five studies with 737 cases and 1,338 control on IL-6 -174G>C polymorphism and four studies with 923 cases and 864 controls on IL-10 -1082A>G polymorphism were selected. The pooled ORs showed that the IL-6 -174G>C and IL-10 -1082A>G polymorphisms were not significantly associated with increased risk of celiac disease under all five genetic models. There was no publication bias. CONCLUSION: To the best of our knowledge, this is the first meta-analysis summarizing all of the available studies on the association of IL-6 -174G>C and IL-10 -1082A>G polymorphisms with celiac disease. Our results suggest that the IL-6 -174G>C and IL-10 -1082A>G polymorphisms may not be associated with increased risk of celiac disease. Moreover, large and well-designed studies are needed to fully describe the association of IL-6 -174G>C and IL-10 -1082A>G polymorphisms with celiac disease.

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Background: A limited number of studies have examined the effect of dairy on satiety and short-term energy intake among children; furthermore we are not aware of any study comparing high and low-fat dairy products regarding their effect on appetite and short-term energy intake. Our objective was to assess the effect skim milk (SM) compared to whole milk (WM) and apple juice (AJ) on satiety and energy intake at lunch among 10-12 y children with obesity. Methods: Fifty children with obesity who aged 10-12 y were randomized to consume a fixed content breakfast with 240 ml of SM, AJ, or WM for two consecutive days. The study was a three-way randomized crossover study; therefore each participant served as his/her own control. The total appetite, hunger, fullness, desire to eat and prospective consumption were measured using a visual analogue scale (VAS) before breakfast and every one hour after breakfast until a freely consumed lunch. VAS scores and energy intakes were compared using repeated measures procedure. Results: Forty-eight participants (24 girls and 24 boys) completed the study. The energy intake was not different between SM, AJ and WM periods (adjusted mean ± standard error (SE) of energy intake: SM = 831.27 ± 30.64 Kcal, AJ = 794.92 ± 28.72 Kcal, WM = 798.87 ± 24.09 Kcal; P = 0.56). The effect was the same for either gender. Children reported higher satiety score 4 h after drinking WM with breakfast compared with SM (P < 0.05). The same association was found only in girls. Furthermore, SM significantly reduced appetite compared to AJ, 2 h after preloads in girls (P < 0.05). Conclusions: Full-fat milk may have favorable effects on satiety but not energy intake in subsequent meal compared to skim milk among the children with obesity. Future studies with longer follow-up periods are needed to confirm these results. Trial registration: The study protocol was registered with the Iranian registry of clinical trials on 9th October 2016 (registration ID: IRCT2016072012571N5).

Background Dietary patterns and food items have been associated with gastroesophageal reflux disease (GERD) risk and they have led to conflicting findings. The aim of this study was to determine the association between a dietary approach to stop hypertension (DASH)-style diet with the risk of GERD and its symptoms in adolescents. Study design Cross-sectional. Methods This study was performed on 5,141 adolescents aged between 13 and 14 years. Dietary intake was evaluated using a food frequency method. The diagnosis of GERD was done by using a six-item GERD questionnaire that asked about GERD symptoms. A binary logistic regression was used to assess the association between the DASH-style diet score and GERD and its symptoms in crude and multivariable-adjusted models. Results Our findings revealed that after adjustment for all confounding variables, the adolescents with the highest adherence to the DASH-style diet had a lower chance of developing GERD [odds ratio (OR) = 0.50; 95%CI 0.33–0.75, Ptrend< 0.001)], reflux (OR = 0.42; 95%CI 0.25–0.71, Ptrend=0.001), nausea (OR = 0.59; 95% CI:0.32–1.08, Ptrend=0.05) and stomach pain (OR = 0.69; 95%CI 0.49–0.98, P trend=0.03) compared to those with the lowest adherence. Similar results were found for odds of GERD among boys, and the total population (OR = 0.37; 95%CI: 0.18–0.73, Ptrend=0.002, OR = 0.51; 95%CI: 0.34–0.77, P trend<0.0, respectively). Conclusion The current study revealed that adherence to a DASH-style diet might protect against GERD and its symptoms including, reflux, nausea, and stomach pain in adolescents. Further prospective research is needed to confirm these findings.