| 1 | Role of CARD15,DLG5 and OCTN genes polymorphisms in children with inflammatory bowel diseases显示文摘AIM: To investigate the contribution of variants of CARD15, OCTN1/2 and DLG5 genes in disease predispo- sition and phenotypes in a large Italian cohort of pediatric patients with inflammatory bowel diseases (IBD). METHODS: Two hundred patients with Crohn’s disease (CD), 186 ulcerative colitis (UC) patients, 434 par- ents (217 trios), and 347 healthy controls (HC) were studied. Polymorphisms of the three major variants of CARD15, 1672C/T and -207G/C SNPs for OCTN genes, IGR2096a_1 and IGR2198a_1 SNPs for the IBD5 locus, and 113G/A variant of the DLG5 gene were evaluated. Potential correlations with clinical sub-phenotypes were investigated. RESULTS: Polymorphisms of CARD15 were significantly associated with CD, and at least one variant was found in 38% of patients (15% in HC, OR = 2.7, P < 0.001). Homozygosis for both OCTN1/2 variants was more com- mon in CD patients (1672TT 24%, -207CC 29%) than in HC (16% and 21%, respectively; P = 0.03), with an in- creased frequency of the TC haplotype (44.8% vs 38.3% in HC, P = 0.04). No association with the DLG5 variant was found. CD carriers of OCTN1/2 and DLG5 variants more frequently had penetrating disease (P = 0.04 and P = 0.01), while carriers of CARD15 more frequently had ileal localization (P = 0.03). No gene-gene interaction was found. In UC patients, the TC haplotype was morefrequent (45.4%, P = 0.03), but no genotype/phenotype correlation was observed. CONCLUSION: Polymorphisms of CARD15 and OCTN genes, but not DLG5 are associated with pediatric on- set of CD. Polymorphisms of CARD15, OCTN, and DLG5 genes exert a weak influence on CD phenotype. | S Cucchiara A Latiano O Palmieri AM Staiano R D'Incà G Guariso G Vieni V Rutigliano O Borrelli MR Valvano V Annese | 2007 | World Journal of Gastroenterology2007，13，8： | 9 |
| 2 | Stool characteristics of infants receiving short-chain galactooligosaccharides and long-chain fructo-oligosaccharides:A review显示文摘Human milk is considered to be the optimal source of infant nutrition. Some of the benefits of breastfeeding have been ascribed to human milk oligosaccharides(HMO). For instance, HMO can affect faecal characteristics such as stool consistency and stool frequency. Such effects on stool characteristics can be beneficial for young infants as hard stools and even constipation is common in that age group. Prebiotics in infant milk formulas have been introduced to exert similar functionalities. A specific mixture of prebiotics consists of a combination of short chain galacto-oligosaccharides and long-chain fructo-oligosaccharides(scGOS/lcFOS) in a ratio of 9:1. This specific mixture has been developed to closely resemble the molecular size composition of HMO. Many studies have been done with scGOS/lcFOS, and indicators for digestive comfort have often been included as secondary outcomes. This review summarizes the effects of scGOS/lcFOS(9:1) on stool consistency,stool frequency and transit time in healthy term and preterm infants. In several of the studies with scGOS/lcFOS in a ratio of 9:1 in infant milk formulas, positive effects of this mixture on stool characteristics such as stool consistency and stool frequency were observed. As stool consistency was shown to be correlated to whole gut transit time, scGOS/lcFOS can be hypothesised to have a role in reducing the risk of constipation. | Petra AMJ Scholtens Dominique AM Goossens Annamaria Staiano | 2014 | World Journal of Gastroenterology2014，20，37： | 6 |
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