Dietary approaches to stop hypertension (DASH)-style diet in association with gastroesophageal reflux disease in adolescents.

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.

Association of Neuregulin 1 rs7835688 G > C, rs16879552 T > C and rs2439302 G > C Polymorphisms with Susceptibility to Non-Syndromic Hirschsprung's Disease.

BACKGROUND: Hirschsprung's disease (HSCR) is a heterogeneous congenital malformation of the enteric nervous system with a complex genetic etiology. We investigated if there was an association between Neuregulin-1 (NRG1) rs7835688 G > C, rs16879552 T > C and rs2439302 G > C polymorphisms and the risk of HSCR. Methods: We determined and compared the frequency of NRG1 polymorphisms rs7835688 G > C, rs16879552 T > C and rs2439302 G > C in 70 children with HSCR and 90 controls by TaqMan SNPs genotyping assays. Results: No significant differences in allele or genotype frequencies of NRG1 rs7835688 G > C, rs16879552 T > C and rs2439302 G > C polymorphisms were observed between HSCR cases and controls. Analyses showed that the NRG1 rs7835688 G > C, rs16879552 T > C and rs2439302 G > C polymorphisms were not significantly associated with an increased risk of non-syndromic HSCR. Conclusions: Our findings suggested that NRG1 rs7835688 G > C, rs16879552 T > C and rs2439302 G > C polymorphisms are not a risk factor in development of HSCR.

Clinical and Mutation Description of the First Iranian Cohort of Infantile Inflammatory Bowel Disease: The Iranian Primary Immunodeficiency Registry (IPIDR).

We describe a cohort of 25 Iranian patients with infantile inflammatory bowel disease (IBD), 14 (56%) of whom had monogenic defects. After proper screening, patients were referred for whole exome sequencing (WES). Four patients had missense mutations in the IL10 RA, and one had a large deletion in the IL10 RB. Four patients had mutations in genes implicated in host:microbiome homeostasis, including TTC7A deficiency, and two patients with novel mutations in the TTC37 and NOX1. We found a novel homozygous mutation in the SRP54 in a deceased patient and the heterozygous variant in his sibling with a milder phenotype. Three patients had combined immunodeficiency: one with ZAP-70 deficiency (T+B+NK-), and two with atypical SCID due to mutations in RAG1 and LIG4. One patient had a G6PC3 mutation without neutropenia. Eleven of the 14 patients with monogenic defects were results of consanguinity and only 4 of them were alive to this date.

The Effect of Synbiotic Supplementation on Growth Parameters in Mild to Moderate FTT Children Aged 2-5 Years.

Synbiotic (probiotic bacteria and prebiotic) has beneficial effects on the gastrointestinal tract. This study was designed to investigate the effect of synbiotic supplementation on the growth of mild to moderate failure to thrive (FTT) children. A randomized, triple-blind, placebo-controlled trial was conducted involving 80 children aged 2-5 years with mild to moderate FTT, who were assigned at random to receive synbiotic supplementation (109 colony-forming units) or placebo for 30 days. The weights, height, and BMI were recorded in a structured diary, and the questionnaires were completed to monitor the numbers of infection episodes, gastrointestinal problems, admission to hospital, and appetite improvement during the study. Sixty-nine children completed the study. There were no differences in the demographic characteristic between the two groups. The mean weight was similar at baseline. After 30 days of intervention, the mean weight of the participants in the synbiotic group increased significantly than those in the placebo group (600 ± 37 vs. 74 ± 32 g/month P 0.000). BMI changes in synbiotic and placebo group were 0.44 and 0.07 kg/m2, and that the differences among the two groups were significant.(P 0.045) Furthermore, the height increment in synbiotic and placebo group was 0.41 and 0.37 cm respectively with no significant difference (P 0.761). Administration of 30-day synbiotic supplementation may significantly improve weight and BMI in Iranian children with mild to moderate FTT, but there is no effect on the height in this study. Further studies should be designed to found out the effect of synbiotic on growth parameters in undernourished and well-nourished children.

Association of REarranged during Transfection (RET) c.73 + 9277T > C and c.135G > a Polymorphisms with Susceptibility to Hirschsprung Disease: A Systematic Review and Meta-Analysis.

Background: Previous studies have suggested a close association between REarranged during Transfection (RET) c.73 + 9277T > C and c.135G > A polymorphisms and Hirschsprung disease (HSCR) susceptibility. The results are inconsistent and contradictory. Thus, we performed a meta-analysis to evaluate the association of RET c.73 + 9277T > C and c.135G > A polymorphisms with risk of HSCR.Methods: The eligible literatures were searched by PubMed, Google Scholar, EMBASE, and CNKI up to August 5 2019.Results: A total of 20 studies including 10 studies with 1136 cases and 2420 controls on c.73 + 9277T > C and 10 studies with 917 cases and 1159 controls on c.135G > A were selected. Pooled ORs revealed that c.73 + 9277T > C and c.135G > A polymorphisms were significantly associated with an increased risk of HSCR. Moreover, stratified analysis revealed that c.73 + 9277T > C and c.135G > A polymorphisms were associated with HSCR risk in Asian, Caucasian and Chinese populations.Conclusions: This meta-analysis result indicated that the RET c.73 + 9277T > C and c.135G > A polymorphisms were associated with susceptibility to HSCR.

ASSOCIATIONS OF IL-6 -174G>C AND IL-10 -1082A>G POLYMORPHISMS WITH SUSCEPTIBILITY TO CELIAC DISEASE: EVIDENCE FROM A META-ANALYSIS AND LITERATURE REVIEW.

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.

Associations of il-6 -174g>c and il-10 -1082a>g polymorphisms with susceptibility to celiac disease: evidence from a meta-analysis and literature review / Associações de polimorfismos IL-6 -174G> C e IL-10 -1082A>G com suscetibilidade à doença celíaca: evidências de uma meta-análise e revisão de literatura

ABSTRACT 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.

RESUMO CONTEXTO: Há poucas evidências para sugerir que os IL-6 -174G>C e IL-10 -1082A>G polimorfismos são significativamente associados com susceptibilidade para doença celíaca. Assim, foi realizada a presente meta-análise para explorar a potencial associação entre estes polimorfismos com o risco de doença celíaca. MÉTODOS: Foram pesquisados estudos elegíveis no Pubmed, Medline, Embase, Web of Science e CNKI Database até abril de 2019. Razões de probabilidades com 95% de intervalo de confiança foram calculados para avaliar as potenciais associações. Além disso, observou-se a heterogeneidade, a sensibilidade e o viés de publicação para esclarecer e validar os resultados agrupados. RESULTADOS: No total, nove estudos caso-controle envolvendo cinco estudos com 737 casos e 1.338 controle em IL-6 -174G>C polimorfismo e quatro estudos com 923 casos e 864 controles em IL-10 -1082A>G polimorfismo foram selecionados. As razões de probabilidade mostraram que o IL-6 -174G>C e IL-10 -1082A>G polimorfismos não estavam significativamente associados com aumento risco de doença celíaca nos cinco modelos genéticos. Não foi detectado viés de publicação. CONCLUSÃO: Pelo nosso conhecimento esta é a primeira meta-análise resumindo todos estudos disponíveis para associação de IL-6 -174G>C e IL-10 -1082A>G polimorfismos com doença celíaca. Estes resultados sugerem que os IL-6 -174G>C e IL-10 -1082A>G polimorfismos podem não ser associados com aumento risco de doença celíaca. Além disso, maiores estudos e mais bem desenhados são necessários para descrever totalmente a associação de IL-6 -174G>C e IL-10 -1082A>G polimorfismos com doença celíaca.

ASSOCIATION OF TNF- α-308G>A POLYMORPHISM WITH SUSCEPTIBILITY TO CELIAC DISEASE: A SYSTEMATIC REVIEW AND META-ANALYSIS.

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.

Candidiasis associated with very early onset inflammatory bowel disease: First IL10RB deficient case from the National Iranian Registry and review of the literature.

Defects in interleukin-10 (IL10) and interleukin-10 receptors (IL10R) are closely related to very early onset (infantile) inflammatory bowel disease (VEO-IBD). In the present study, we report a novel homozygous null mutation within interleukin-10 receptor B (IL10RB) gene in a child presenting with severe VEO-IBD. In accordance with previous reports, our patient manifested with chronic diarrhea, failure to thrive, intermittent fever and multiple anal ulcers associated with Candidiasis. Homozygous null mutation within IL10RB gene (c.92C > T, p.S31P) affecting the extracellular domain of protein was discovered in this patient. In conclusion, the diagnosis of IL-10R gene mutations should always be considered as a possible cause of refractory diarrhea and failure to thrive. Mutation analysis could help detect the genetic defects associated with these clinical manifestations and to determine the most appropriate treatment option for patients affected by this disease.

Association of tnf- α-308g>a polymorphism with susceptibility to celiac disease: a systematic review and meta-analysis / Associação do polimorfismo TNF-α -308G>A com susceptibilidade para doença celíaca: uma revisão sistemática e metanálise

ABSTRACT 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.

RESUMO CONTEXTO: Há evidências crescentes para mostrar que o TNF-α-308G>A polimorfismo pode ser um fator de risco para a doença celíaca, mas os resultados são inconsistentes. OBJETIVO: Por isto objetivou-se realizar uma meta-análise envolvendo estudos publicados até janeiro de 2019 para elucidar esta associação. MÉTODOS: Para avaliar o efeito do TNF-α-308G>A polimorfismo na suscetibilidade da doença celíaca, pesquisou-se os bancos de dados do PubMed, ISI Web of Knowledge e Chinese National Knowledge Infrastructure (CNKI) para identificar estudos elegíveis, sem restrições. Para avaliar a suscetibilidade à doença celíaca, foram utilizadas os odds ratio sumários (ORs) e os intervalos de confiança de 95% (ICs). RESULTADOS: Um total de 11 estudos com 1147 casos e 1774 controles foram selecionados para esta meta-análise. Os resultados agrupados indicaram que o TNF-α-308G>A polimorfismo associou-se ao aumento do risco de doença celíaca (A vs G: OR=2,077; 95% IC=1,468-2,939; P=≤0,001; AA vs GG: OR=8,512; 95% IC=3,740-19,373; P=≤0,001; AA+AG vs GG: OR=1,869; 95% IC=1,161-3,008; P=0,010; e AA+AG vs GG: OR=4,773; 95% IC=3,181-7,162; P≤0,001). A análise de subgrupos por etnia também revelou associação significativa em caucasianos. Além, havia uma associação significativa entre o TNF-α-308G>A um polimorfismo e o risco do doença celíaca na Italia, na Espanha e em estudos do grupo do PCR-FRLP. CONCLUSÃO: Nossa meta-análise sugere que o TNF-α-308G>A polimorfismo desempenha um papel importante na suscetibilidade da doença celíaca. No entanto, nossos resultados necessitam de mais dados e de serem fortalecidos por outros estudos em diferentes etnias e tamanhos amostrais maiores.

The effects of whole milk compared to skim milk and apple juice consumption in breakfast on appetite and energy intake in obese children: a three-way randomized crossover clinical trial.

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).

Comparison of Oral Midazolam With Intravenous Midazolam for Sedation Children During Upper Gastrointestinal Endoscopy.

Upper endoscopy is a common procedure for the diagnosis and treatment of upper digestive tract diseases. The increasing number of pediatric gastrointestinal procedures has led to increasing attention on the safety and efficacy of medications used for sedation during the procedure. This randomized blinded interventional study was designed to compare the effect of oral midazolam with intravenous (IV) midazolam as a sedative medication in 119 children undergoing endoscopy. The mean time to sedation was 2.2±0.7 in IV midazolam group and 30.9±0 in oral midazolam group which was statistically significant difference between two groups. Separation from parents in oral midazolam group was as follow: 2 patients were high resistant (3.5%), 2 patients were resisted first and then relaxed (3.5%) and 55 patients were separated from their parents without any resistance (93%); whereas in IV midazolam group, 8 patients were high resistant (13.3%), 29 patients were relatively resistant (48.3%) and 23 patients were separated from their parents without any resistance (38.3%) that shows significant differences between the two groups. In terms of patient comfort during endoscopy, there was also a significant difference between the two groups. In oral midazolam, group parents were more consent, compared with the other group. The present study showed that oral midazolam is a safe and effective sedation during upper endoscopy in pediatrics. Oral midazolam reducing patients' anxiety during separation from parents leads the easy use of endoscopy and comfort of patients during endoscopy as compared with IV midazolam. Oral or IV midazolam were not able to put most patients in deep sedation level.

Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder.

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.