Abstract:
OBJECTIVE:The aim of the study is to identify additional celiac disease associated loci in the major histocompatibility complex (MHC) independent from classical HLA risk alleles (HLA-DR3-DQ2) and to characterize their potential functional impact in celiac disease pathogenesis at the intestinal level. METHODS:We performed a high-resolution single-nucleotide polymorphism (SNP) genotyping of the MHC region, comparing HLA-DR3 homozygous celiac patients and non-celiac controls carrying a single copy of the B8-DR3-DQ2 conserved extended haplotype. Expression level of potential novel risk genes was determined by RT-PCR in intestinal biopsies and in intestinal and immune cells isolated from control and celiac individuals. Small interfering RNA-driven silencing of selected genes was performed in the intestinal cell line T84. RESULTS:MHC genotyping revealed 2 associated SNPs, one located in TRIM27 gene and another in the non-coding gene HCG14. After stratification analysis, only HCG14 showed significant association independent from HLA-DR-DQ loci. Expression of HCG14 was slightly downregulated in epithelial cells isolated from duodenal biopsies of celiac patients, and eQTL analysis revealed that polymorphisms in HCG14 region were associated with decreased NOD1 expression in duodenal intestinal cells. CONCLUSIONS:We have successfully employed a conserved extended haplotype-matching strategy and identified a novel additional celiac disease risk variant in the lncRNA HCG14. This lncRNA seems to regulate the expression of NOD1 in an allele-specific manner. Further functional studies are needed to clarify the role of HCG14 in the regulation of gene expression and to determine the molecular mechanisms by which the risk variant in HCG14 contributes to celiac disease pathogenesis.
journal_name
J Pediatr Gastroenterol Nutrjournal_title
Journal of pediatric gastroenterology and nutritionauthors
Santin I,Jauregi-Miguel A,Velayos T,Castellanos-Rubio A,Garcia-Etxebarria K,Romero-Garmendia I,Fernandez-Jimenez N,Irastorza I,Castaño L,Bilbao JRdoi
10.1097/MPG.0000000000001970subject
Has Abstractpub_date
2018-08-01 00:00:00pages
225-231issue
2eissn
0277-2116issn
1536-4801journal_volume
67pub_type
杂志文章abstract:OBJECTIVE:This position paper written by the Hepatitis Expert Team of the Federation of International Societies of Pediatric Gastroenterology, Hepatology, and Nutrition aimed to systematically evaluate clinical practice guidelines (CPGs), medical consensus, and position papers on the use of direct-acting antivirals (DA...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0000000000002710
更新日期:2020-05-01 00:00:00
abstract::Lactoferrin is an iron-binding protein present in high concentrations in human milk. The efficacy of supplementing iron bound to lactoferrin to iron-deficient and iron-sufficient young mice was evaluated in comparison with supplementation of iron as iron chloride. Mice fed a nonsupplemented milk diet (approximately 1 ...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/00005176-198311000-00021
更新日期:1983-11-01 00:00:00
abstract::The aim of this study was to investigate the feasibility of using applied potential tomography (APT), a noninvasive and nonradioactive method, to measure the rate of gastric emptying in preterm babies and infants < 3 months old. APT, a form of electrical impedance tomography, creates tomographic images of tissue resis...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/00005176-199501000-00012
更新日期:1995-01-01 00:00:00
abstract:BACKGROUND:Interferon-alpha was the first accepted treatment of chronic hepatitis C. In recent years, adding ribavirin has produced better response rates in adult patients than monotherapy with interferon-alpha. Whether adding ribavirin also improves treatment results in pediatric patients remains unclear. METHODS:Twe...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 临床试验,杂志文章
doi:10.1097/00005176-200202000-00018
更新日期:2002-02-01 00:00:00
abstract:OBJECTIVES:Celiac disease (CD) represents a spectrum, which includes cases with minor histological abnormalities (potential CD). The aim of this work is to evaluate the contribution of immunohistochemical analysis of duodenal biopsies to the diagnosis of gluten-related minor enteropathy. METHODS:Duodenal biopsies from...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0000000000000675
更新日期:2015-05-01 00:00:00
abstract::A report on a case of rickets in a very low birth weight infant (VLBWI) is presented. The infant had no high-risk factors for rickets and was fed a specialized preterm formula with vitamin D supplementation (200 IU daily) by 10 days of age. Feeds were advanced so that an enteral intake of 120 cal/kg/day was achieved b...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/00005176-198910000-00023
更新日期:1989-10-01 00:00:00
abstract:BACKGROUND:The newborn colon is devoid of microflora, in that bacterial colonization is established after birth. Short chain fatty acids, products of bacterial fermentation, are the major energy source for colonocytes. Because it is not known whether colonocytes in the newborn can metabolize butyrate, this was examined...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/00005176-199804000-00013
更新日期:1998-04-01 00:00:00
abstract:OBJECTIVES:Dual sofosbuvir/daclatasvir (SOF/DCV) therapy is currently recommended by the European Association for Study of Liver (EASL) as an option for the treatment of chronic hepatitis C virus (HCV) infection in adults for all genotypes; however, it is still not considered for patients younger than 18 years old. We ...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章,多中心研究
doi:10.1097/MPG.0000000000001968
更新日期:2018-07-01 00:00:00
abstract::To further evaluate the nature of malnutrition, define at-risk groups, and confirm the efficacy of nutritional supplementation on body composition in cystic fibrosis (CF), we have conducted longitudinal and cross-sectional studies of total body potassium (TBK) in 161 unselected CF subjects aged 1 month to 17 years. TB...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/00005176-198908000-00012
更新日期:1989-08-01 00:00:00
abstract:OBJECTIVE:Selected infants with short bowel syndrome (SBS) and progressive intestinal failure associated liver disease (IFALD) may benefit from isolated liver transplantation (iLTx). The aim of the study is to identify risk factors for unfavourable outcome in iLTx. PATIENTS AND METHODS:A retrospective review of medica...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/mpg.0b013e31818c6099
更新日期:2009-03-01 00:00:00
abstract::We describe a child born to unrelated parents who developed severe protracted secretory type diarrhea associated with subtotal villus atrophy and intestinal inflammation at the age of 19 months. No infectious, metabolic, or anatomical basis for this condition was identified and the child required total parenteral nutr...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/00005176-199002000-00021
更新日期:1990-02-01 00:00:00
abstract:OBJECTIVES:Duodenal tube test (DTT) is used as a preoperative screening to rule out biliary atresia (BA). In previous reports, DTT was assessed by the color of the duodenal fluid, but there were no quantitative criteria. The aim of this study was to examine the efficacy of DTT based on the total bile acid (TBA) concent...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0000000000002037
更新日期:2018-09-01 00:00:00
abstract::Breath methane excretion is uncommon in children compared with adults. Certain intracolonic conditions, however, have been associated with enhanced methane generation. We hypothesized that encopretic and constipated children, who have abnormal colonic transit times, more likely would excrete methane than healthy child...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/00005176-199005000-00010
更新日期:1990-05-01 00:00:00
abstract:BACKGROUND:Starch is an important source of energy for children with cystic fibrosis, but little is known about their capacity to digest it. METHODS:A 13C breath test was used to measure starch digestion and oxidation in 16 children with cystic fibrosis (median [range] age, 7.9 [4-15] years; 7 girls, 9 boys) and 5 nor...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/00005176-199909000-00016
更新日期:1999-09-01 00:00:00
abstract:OBJECTIVES:The aim of the present study was to determine the in vitro effect(s) of a bovine-based human breast milk fortifier (HMF) on human intestinal cells. HMF increases the expression of BCL2/adenovirus E1B 19 kDa protein-interacting protein (Bnip3) and cell death; the prostaglandin analogue misoprostol will rescue...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0000000000000876
更新日期:2015-11-01 00:00:00
abstract::Cholestatic liver disorders account for a large proportion of chronic liver ailments in adults, children and infants, and are among the leading indications for liver transplantation in all age groups. Recent studies have begun to characterize the cellular and molecular mechanisms of hepatocyte injury caused by the ret...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章,评审
doi:10.1097/01.mpg.0000226384.71859.16
更新日期:2006-07-01 00:00:00
abstract:OBJECTIVES:Less than one-tenth of the carriers of the risk genes HLA-DQ2 or HLA-DQ8 develop celiac disease, suggesting that other genetic and environmental factors are important in the pathogenesis. The role of gut microbiota has been addressed previously with inconsistent findings. Our aim was to evaluate microbiota, ...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0b013e318241cfa8
更新日期:2012-06-01 00:00:00
abstract::Liver transplantation is now accepted as the treatment of choice for tyrosinemia type I (hereditary tyrosinemia). In an effort to determine whether any factors in these patients would aid in predicting optimal timing of the transplant procedure, we evaluated several clinical, biochemical, and radiographic parameters i...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/00005176-199107000-00002
更新日期:1991-07-01 00:00:00
abstract::We studied the effects of breast milk feeding versus formula feeding during the first 8 weeks of life on the development of local gastrointestinal humoral immune response by measuring fecal secretory immunoglobulin A (SIgA). Forty-four infants were studied and classified into two groups: breast milk (n = 21) and stand...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:
更新日期:1989-07-01 00:00:00
abstract:BACKGROUND:Progressive familial intrahepatic cholestasis, which constitutes a heterogeneous group of imperfectly delineated syndromes and appears to be inherited as an autosomal recessive condition, has not been hitherto reported from the Middle East, in spite of the high rate of consanguineous marriage in this region....
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/00005176-199705000-00011
更新日期:1997-05-01 00:00:00
abstract:OBJECTIVES:Functional gastrointestinal disorders (FGIDs) are common in children. Their pathogenesis remains unknown and is most likely multifactorial. We hypothesized that noninfectious causes of inflammation affecting the gastrointestinal (GI) tract early in life, such as cow's-milk allergy (CMA), can predispose to th...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0b013e3181e85b55
更新日期:2011-02-01 00:00:00
abstract:OBJECTIVES:Failure-to-thrive is defined as an abnormally low weight and/or height for age. The term "nonorganic failure-to-thrive" (NOFT) has been used to describe "failure-to-thrive" without an obvious cause underlying the growth failure. The purpose of the present study was to compare sensory processing abilities bet...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0000000000000707
更新日期:2015-06-01 00:00:00
abstract:BACKGROUND:In patients with biliary atresia (BA), liver fibrosis and cirrhosis commonly occur even after Kasai hepatoportoenterostomy. Although liver biopsy is the gold standard to evaluate liver fibrosis, it is invasive and may result in life-threatening complications. The aspartate aminotransferase-to-platelet ratio ...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0b013e3181da1d98
更新日期:2010-08-01 00:00:00
abstract:OBJECTIVE:Human milk provides a complex mixture of animal lipids, whereas the fat supply of most modern infant formula is based on vegetable oils. We studied the effects of breast-feeding and of feeding infant formula either without or with dairy goat lipids on the composition of infant plasma glycerophospholipids. ME...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章,随机对照试验
doi:10.1097/MPG.0000000000000783
更新日期:2015-09-01 00:00:00
abstract::Food-induced eosinophilic proctocolitis appears in the first 2 months of life with blood-tinged stools. Aside from occasional apparent pain on defecation and a few infants with moderate eczema, systemic features are absent. Indeed, aside from the diaper, the infant is generally described as well. Thus, in contrast to ...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章,评审
doi:10.1097/00005176-200001001-00009
更新日期:2000-01-01 00:00:00
abstract:OBJECTIVES:Twenty-four-hour pH-metry represents the gold standard for the diagnosis of gastroesophageal reflux. Ambulatory esophageal pH recording provides a better reflection of occurrences under normal domestic living conditions, but it may influence physical activity. The aim of this study was to assess the influenc...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/mpg.0b013e31817f2827
更新日期:2009-04-01 00:00:00
abstract:OBJECTIVE:The aim of the study was to evaluate long-term nutritional outcomes and clinical characteristics in a cohort of children with pediatric intestinal pseudo-obstruction (PIPO) at neonatal-onset (NO-PIPO) and at later-onset (LO-PIPO). METHODS:All children fulfilling new PIPO criteria over a 30-year period were r...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0000000000002373
更新日期:2019-08-01 00:00:00
abstract:OBJECTIVE:Oral insulin (INS) has been shown to protect intestinal epithelial cells from injury caused by ischemia-reperfusion and endotoxemia. In the present study, we tested whether oral insulin can protect gut epithelial cells from methotrexate (MTX)-induced intestinal damage. MATERIALS AND METHODS:Adult male Spragu...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0b013e31806008f1
更新日期:2008-08-01 00:00:00
abstract::Seventeen children with cystic fibrosis were studied in a 6-week double-blind, placebo-controlled, crossover trial to determine the efficacy of misoprostol, 100 micrograms, four times a day, in improving fat absorption in patients already on pancreatic enzyme therapy. In those patients who had greater than 90% absorpt...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 临床试验,杂志文章
doi:10.1097/00005176-199007000-00007
更新日期:1990-07-01 00:00:00
abstract:OBJECTIVE:Appetite manipulation can be effective in weaning children off gastrostomy tube feeding dependence but can cause dehydration, hypoglycaemia, and ketone body production, which is anorexigenic. As the safety of this approach has not been described, our aim was to describe adverse events observed when weaning ch...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0000000000001849
更新日期:2018-05-01 00:00:00