Abstract:
OBJECTIVES:Defects of PRSS1, SPINK1, CFTR and AAT are considered causative or predisposing to pancreatitis. The aim of this study was to evaluate the impact of these defects into molecular pathology of chronic pancreatitis (CP) and acute recurrent pancreatitis (ARP). METHODS:Ninety-two children with CP or ARP, 55 family members and 50 controls were investigated. The subjects were screened for PRSS1 mutations: R122H, R122C, A16V, N29I; SPINK1 N34S variant; panel of 14 CFTR defects: INNOLiPA CFTR12, CFTRdele2,3 and IVS8-T variant or panel of 3 CFTR defects-F508del, CFTRdele2,3 and IVS8-T; AAT mutations: E264V, E342K. RESULTS:We identified 1 mutated allele in at least 1 of 4 genes in 31 of 92 patients and 12 of 50 controls (P = 0.157). Mutations in SPINK1 and PRSS1 were most frequent. PRSS1 mutations were identified mainly in CP patients (9.6% of CP vs 2.5% of ARP alleles, P = 0.094), whereas N34S SPINK1 mutation was present with comparable frequency in CP and ARP patients (7.7% vs 10.0%, P = 0.768). The frequency of mutations in CFTR alleles was similar to controls (4.9% vs 5%, P = 0.587). Overall frequency of AAT mutations was lower than in the controls. Family studies showed that defects in the examined genes did not always segregate with disease. CONCLUSIONS:PRSS1 defects seem to be causative for pancreatitis, whereas defects in SPINK1 are suggested to be associated with the disease. No association between CFTR mutations and pancreatitis was observed. The importance of AAT variants remains speculative.
journal_name
J Pediatr Gastroenterol Nutrjournal_title
Journal of pediatric gastroenterology and nutritionauthors
Sobczyńska-Tomaszewska A,Bak D,Oralewska B,Oracz G,Norek A,Czerska K,Mazurczak T,Teisseyre M,Socha J,Zagulski M,Bal Jdoi
10.1097/01.mpg.0000232570.48773.dfsubject
Has Abstractpub_date
2006-09-01 00:00:00pages
299-306issue
3eissn
0277-2116issn
1536-4801pii
00005176-200609000-00006journal_volume
43pub_type
杂志文章abstract::The contrasting effects of natural versus cow's milk formula (CMF) on upper gastrointestinal development in the newborn were studied. The passive intestinal permeability of neonatal human infants and guinea pigs was measured using the nonmetabolisable markers lactulose and mannitol. Mucosal morphology was examined in ...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/00005176-198705000-00008
更新日期:1987-05-01 00:00:00
abstract::Both storage of breast milk for 3 days at 4 degrees C and the addition of breast milk fortifier containing lipid improved the delivery of lipids during continuous pump infusion. The percentage of the original lipid delivered after 8 h of pumping was 9, 25, 58, and 66% from the freshly collected milk, stored milk, fres...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/00005176-198905000-00013
更新日期:1989-05-01 00:00:00
abstract:BACKGROUND AND OBJECTIVES:Breast milk contains several bioactive factors including human milk oligosaccharides (HMOs) and microbes that shape the infant gut microbiota. HMO profile is determined by secretor status; however, their influence on milk microbiota is still uncovered. This study is aimed to determine the impa...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0000000000002216
更新日期:2019-02-01 00:00:00
abstract:OBJECTIVES:To evaluate the safety of lansoprazole in children between 1 and 11 years of age. METHODS:In a phase I/II, open-label, multicenter (11 sites) study, children with symptomatic gastroesophageal reflux disease (GERD), erosive esophagitis (> or = grade 2), and/or esophageal pH < 4 for > 4.2% of the 24-hour peri...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1097/00005176-200211004-00002
更新日期:2002-01-01 00:00:00
abstract:OBJECTIVE:The antitumor necrosis factor α (TNFα) antibodies infliximab and adalimumab are effective in inducing and maintaining remission in pediatric patients with Crohn disease (CD). The aim of the study was to evaluate the long-term efficacy and safety of biological therapy in pediatric patients with CD followed at ...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0000000000000276
更新日期:2014-05-01 00:00:00
abstract:OBJECTIVES:Both breast-feeding duration and age at gluten introduction have been implicated in the pathogenesis of celiac disease (CD). We hypothesized that parental CD affects the feeding pattern of the offspring, mediated by parental health awareness increasing adherence to infant feeding guidelines. METHODS:Prospec...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0000000000000326
更新日期:2014-07-01 00:00:00
abstract:OBJECTIVES:Aim of the study was to evaluate the response to hepatitis A and B vaccination in pediatric patients with inflammatory bowel disease (IBD). METHODS:A total of 47 patients with IBD (25 ulcerative colitis, 14 Crohn's disease, and 8 indeterminate colitis) ages 3 to 17 years were compared with 50 healthy age- a...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0b013e31827dd87d
更新日期:2013-04-01 00:00:00
abstract::Intestinal obstruction, enteritis, and colitis have been reported in patients with previously documented chronic granulomatous disease (CGD). We describe here an 11-year-old boy whose initial presentation was compatible with inflammatory bowel disease. A mild but persistent dermatitis was his only other manifestation ...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/00005176-198409000-00028
更新日期:1984-09-01 00:00:00
abstract:BACKGROUND:Ursodeoxycholic acid (UDCA) has been shown to improve pruritus, alanine aminotransferase (ALT), and cholesterol levels in children with intrahepatic cholestatic liver disease. However, the effect of UDCA on quantitative tests of hepatic function in children is uncertain. METHODS:A 2.5-year, open label, cros...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 临床试验,杂志文章
doi:10.1097/00005176-199801000-00009
更新日期:1998-01-01 00:00:00
abstract::Pediatric gastrointestinal endoscopy has been established as safe and effective for diagnosis and management of many pediatric gastrointestinal diseases. Nevertheless, certain patient and procedure factors should be recognized that increase the risk of intra- and/or postprocedural adverse events (AEs). AEs associated ...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章,实务指引
doi:10.1097/MPG.0000000000002277
更新日期:2019-04-01 00:00:00
abstract:BACKGROUND:Celiac disease (CD) is overrepresented among patients with Down syndrome (DS), who frequently lack any typical symptoms. Therefore, screening for CD is recommended in this high-risk group. The aim of the study was to determine the prevalence of CD in Arab children with DS and evaluate the contribution of imm...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0b013e3180320679
更新日期:2007-05-01 00:00:00
abstract::Intestinal sucrase activity, absent in the suckling rat, is evoked precociously by thyroid hormones. Since enterocytes migrate from crypt to villus tip, the question arises: at which level of the villus--crypt columns do the enterocytes respond with an increase of sucrase activity to thyroxin (T4)? Suckling rats (11 d...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/00005176-198212000-00024
更新日期:1982-01-01 00:00:00
abstract:BACKGROUND AND AIM:Gastroduodenal disease is more common among adults and children with cagA+ Helicobacter pylori infection, but disease severity varies among those infected with cagA+ strains. We examined whether cagA in situ expression can predict disease manifestations among H pylori-infected children. PATIENTS AND...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0b013e3181bab326
更新日期:2010-02-01 00:00:00
abstract::The synthetic opiate loperamide (LPMD) is an antidiarrheal compound which affects both intestinal motility and the transport of water and electrolytes. We have investigated its effects on ion transport in the stripped ileal mucosa of rabbits, mounted in Ussing chambers in vitro. Addition of LPMD to serosal bathing med...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/00005176-198409000-00020
更新日期:1984-09-01 00:00:00
abstract:OBJECTIVE:A previously unrecognized high prevalence of celiac disease (CD) has been found by screening among European and North American patients with type 1 diabetes mellitus (DM 1). The prevalence of CD among Brazilian children with DM1 is not known. This study was conducted to determine the prevalence of CD in Brazi...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/01.mpg.0000181400.57884.c3
更新日期:2005-11-01 00:00:00
abstract::Several recent studies have demonstrated significantly lower plasma total tryptophan concentrations in formula-fed than in breast-fed infants. We have measured preprandial plasma amino acid concentrations in infants breast-fed or fed a formula with a protein concentration of 1.57 g/dl and with a whey/casein ratio of 6...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1097/00005176-199205000-00014
更新日期:1992-05-01 00:00:00
abstract:BACKGROUND:The use of protein hydrolysate preterm formulas is restricted because data on their nutritional adequacy are scarce. The authors evaluated the rate of growth and indices of protein metabolism in low-birth weight infants fed extensive and partial protein hydrolysate preterm formula followed for 12 weeks. MET...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1097/00005176-200103000-00013
更新日期:2001-03-01 00:00:00
abstract:BACKGROUND AND AIMS:Functional dyspepsia in childhood is commonly triggered by food allergen in sensitised individuals. We investigated the topography of eosinophils and mast cells in gastric antral lamina propria, the interaction of mast cell products with mucosal nerve fibres, and changes in gastric antral muscle slo...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0b013e318186008e
更新日期:2008-10-01 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::Choline deficiency leads to steatohepatitis, elevated transaminases, susceptibility to septic shock, and an increased risk of central catheter thrombosis. Children with intestinal failure (IF) are at risk for choline deficiency. In an unblinded, open-label study, we studied 7 children with IF on parenteral nutrition, ...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 临床试验,杂志文章
doi:10.1097/MPG.0b013e31821404d4
更新日期:2011-07-01 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::The effects of changes in diet on antral gastrin-like immunoreactivities and antral and corporal somatostatin-like immunoreactivities were studied in three groups of young male rats. Group 1 rats were weaned physiologically, group 2 rats received only breast milk, and group 3 rats were fed milk until 20 days of age an...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/00005176-198506000-00024
更新日期:1985-06-01 00:00:00
abstract:OBJECTIVE:By reviewing the literature, lessons learned and experience regarding the nutrition-related health problems of preschool children, draw conclusions and make recommendations on education and nutrition policies for young children. RESULTS:The most common causes of under-5 mortality in low-income countries have...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 社论
doi:10.1097/01.mpg.0000255851.30400.e7
更新日期:2006-12-01 00:00:00
abstract::Sixteen children (3.5-14.7 years) with portal hypertension and variceal hemorrhage were treated by direct endoscopic variceal sclerotherapy. Follow-up clinical and endoscopic evaluations have been carried out over a 1-6-year period (mean, 2.3 years). Prior to sclerotherapy, three patients had undergone unsuccessful su...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/00005176-198609000-00005
更新日期:1986-09-01 00:00:00
abstract:OBJECTIVES:The present study aims to identify the genotype-phenotype correlation in children with Peutz-Jeghers Syndrome (PJS) through the analysis of STK11 gene mutations in the context of clinical and pathological characteristics. METHOD:In this observational cohort study, the clinical characteristics of 18 families...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0000000000002166
更新日期:2019-02-01 00:00:00
abstract::The European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) Polyposis Working Group developed recommendations to assist clinicians and health care providers with appropriate management of patients with juvenile polyposis. This is the first juvenile polyposis Position Paper published by ESP...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章,评审
doi:10.1097/MPG.0000000000002246
更新日期:2019-03-01 00:00:00
abstract:OBJECTIVES:The aim of the study was to evaluate erosive esophagitis healing and symptom improvement with once-daily esomeprazole in children ages 12 to 36 months with endoscopically or histologically proven gastroesophageal reflux disease (GERD). PATIENTS AND METHODS:Data from children ages 12 to 36 months were includ...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1097/MPG.0b013e3181ddcf11
更新日期:2010-11-01 00:00:00
abstract:OBJECTIVES:Environmental enteropathy (EE) is likely associated with growth retardation in children, but the association between EE and length velocity z score (LVZ) has not been investigated. The objective of the study was to assess associations between fecal markers for intestinal inflammation and LVZ and whether thes...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0000000000001990
更新日期:2018-08-01 00:00:00
abstract:BACKGROUND:Immunologic development of soy-fed infants has not been extensively studied. Early studies of soy flour-based formulas showed decreased immunoglobulin production when soy protein intake was limited. However, there were no significant differences in rotavirus vaccine responses between breast-fed and soy prote...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1097/00005176-200202000-00007
更新日期:2002-02-01 00:00:00
abstract::An enzyme-linked immunosorbent assay technique was developed to determine serum antigliadin antibodies of the IgA, IgE, IgG, and IgM classes. The antibody level of each serum specimen was expressed as an index value, i.e., optical density of test serum/optical density of cutoff, where cutoff was calculated for each im...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/00005176-198510000-00007
更新日期:1985-10-01 00:00:00