Abstract:
BACKGROUND:Familial defective apolipoprotein B-100, a dominantly inherited form of hypercholesterolemia caused by a single Arg3500Gln mutation, is silent in childhood but may confer a high risk of cardiovascular disease in adulthood. The objective was to determine the prevalence of familial defective apolipoprotein B-100 in hypercholesterolemic French children and to provide a basis for targeting screening efforts in this population. METHODS:One hundred ninety children attending 13 pediatric clinics distributed throughout France were included based on the presence of type IIa hypercholesterolemia with a plasma low-density lipoprotein-cholesterol level of more than 130 mg/dL. The Arg3500Gln mutation was detected in dried blood spots using a polymerase chain reaction assay combined with enzymatic restriction. RESULTS:Three hyperlipidemia phenotypes were found: monogenic dominant pure hypercholesterolemia (n = 117), polygenic hypercholesterolemia (n = 43), and combined hyperlipidemia (n = 11). Three unrelated children were heterozygous for the Arg3500Gln mutation; all three had monogenic dominant pure hypercholesterolemia (3/94 families; 3.2%), yielding a prevalence of 1.83% (3/164) in hypercholesterolemic children, which is similar to prevalences reported in European adults. CONCLUSIONS:The familial defective apolipoprotein B-100 mutation was common (1/31) in children with a phenotype of familial hypercholesterolemia, supporting screening in this population with the goal of preventing premature cardiovascular events.
journal_name
J Pediatr Gastroenterol Nutrjournal_title
Journal of pediatric gastroenterology and nutritionauthors
Viola S,Benlian P,Morali A,Dobbelaere D,Lacaille F,Rieu D,Ginies JL,Maurage C,Meyer M,Lachaux A,Larchet M,Lenearts C,Goulet O,Sarles J,Mouterde O,Girardet JP,French-Speaking Group for Pediatric Hepatogastroenterology anddoi
10.1097/00005176-200108000-00005subject
Has Abstractpub_date
2001-08-01 00:00:00pages
122-6issue
2eissn
0277-2116issn
1536-4801journal_volume
33pub_type
杂志文章,多中心研究abstract:OBJECTIVES:Gastrointestinal (GI) symptoms of nausea, vomiting, and abdominal pain are common in patients with orthostatic intolerance (OI), including neurally mediated hypotension (NMH) and postural orthostatic tachycardia syndrome (POTS). Autonomic dysregulation is considered the underlying pathophysiology behind the ...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0000000000001150
更新日期:2016-09-01 00:00:00
abstract:OBJECTIVES:Biliary dyskinesia is a common diagnosis that frequently results in cholecystectomy. In adults, most clinicians use a cut off value for the gallbladder ejection fraction (GBEF) of <35% to define the disease. This disorder is not well characterized in children. Our aim was to determine the relation between GB...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0000000000001065
更新日期:2016-07-01 00:00:00
abstract:INTRODUCTION:For a large portion of youth, pain-associated functional gastrointestinal disorders (FGIDs) are associated with significant impairment over time. Clinically feasible methods to categorize youth with FGIDs at greatest risk for persistent pain-related impairment have not yet been identified. METHODS:Measure...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 临床试验,杂志文章
doi:10.1097/MPG.0000000000001342
更新日期:2017-05-01 00:00:00
abstract::The provision of optimal nutritional care is based on accurate estimations of patients' resting energy expenditure. The latter can be calculated with the use of predictive equations or measured with indirect calorimetry (IC). Owing to their ease of use, mathematical equations have largely replaced IC in clinical pract...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章,评审
doi:10.1097/MPG.0000000000000572
更新日期:2015-01-01 00:00:00
abstract::The general goals of treatment of cyclic vomiting syndrome (CVS) are: interruption of established episodes, amelioration of symptoms in patients whose episodes cannot be interrupted, aborting episodes during prodromal symptoms, prophylaxis to abolish or lessen the frequency of episodes, and recovery. Complications of ...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章,评审
doi:10.1097/00005176-199501001-00015
更新日期:1995-01-01 00:00:00
abstract::The Pancreas Committee of the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition aims to promote awareness of pediatric pancreatic diseases, support clinical and basic science research in the field, educate pediatric gastroenterologists, and advocate on behalf of pediatric patients with pa...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type:
doi:10.1097/MPG.0000000000002186
更新日期:2019-02-01 00:00:00
abstract::Stools of 65 patients with exacerbation of symptoms of inflammatory bowel disease were examined for the presence of enteric pathogens and Clostridium difficile. Ten (16%) had C. difficile toxin. Symptoms in all patients cleared after therapy, with improvement correlating with elimination of toxin from the stool. ...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/00005176-199107000-00007
更新日期:1991-07-01 00:00:00
abstract:OBJECTIVE:To assess the incidence and location at diagnosis of inflammatory bowel disease in children and adolescents in northern France between 1988 and 1999. METHODS:A 12-year prospective population-based study was conducted by gastroenterologists and pediatric gastroenterologists of northern France (1,312,141 child...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/01.mpg.0000162479.74277.86
更新日期:2005-07-01 00:00:00
abstract:BACKGROUND:The spectrum and severity of idiosyncratic drug-induced liver injury (DILI) in children are not well established. PATIENTS AND METHODS:The DILIN (Drug-Induced Liver Injury Network) Prospective Study is a longitudinal multicenter study designed to determine the etiologies, risk factors, and outcomes of suspe...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章,多中心研究
doi:10.1097/MPG.0b013e31821d6cfd
更新日期:2011-08-01 00:00:00
abstract::The apolipoprotein (apo) A-I:B ratio and the apo B concentration were determined by radial immunodiffusion in dried blood spot samples from 1,767 10- and 11-year-old children. Children with either apo A-I:B ratios below the first percentile or apo B levels above the 99th were recalled and plasma lipid and apolipoprote...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:
更新日期:1990-02-01 00:00:00
abstract:OBJECTIVE:Portopulmonary hypertension (POPH) is a known complication of cirrhosis in adults, but there is little information on its incidence and outcome in children with liver disease. We report 14 patients with POPH and present a synthesis of the medical literature. METHODS:Diagnosis of POPH in the 14 patients was b...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0000000000000821
更新日期:2015-09-01 00:00:00
abstract:OBJECTIVES:Beneficial therapeutic effect of probiotics has been reported in children with the irritable bowel syndrome (IBS) but not consistently in other functional abdominal pain-related disorders. The aim of the present study was to investigate the effect of Lactobacillus reuteri DSM 17938 in the treatment of functi...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章,随机对照试验
doi:10.1097/MPG.0000000000001478
更新日期:2017-06-01 00:00:00
abstract:OBJECTIVES:The aim of the study was to investigate the multidimensional gastrointestinal symptoms predictors of generic health-related quality of life (HRQOL) in pediatric patients with inflammatory bowel disease from the perspectives of pediatric patients and parents. METHODS:The Pediatric Quality of Life Inventory G...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章,多中心研究
doi:10.1097/MPG.0000000000001428
更新日期:2016-12-01 00:00:00
abstract:BACKGROUND AND OBJECTIVE:Despite studies indicating that vitamin D intake among Swedish children does not meet the recommendation, little is known of their vitamin D status. The aim of the present study was to examine vitamin D status in preschool-age children in relation to vitamin D intake, season, body mass index, a...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0b013e3182838e5b
更新日期:2013-05-01 00:00:00
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 fami...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/01.mpg.0000232570.48773.df
更新日期:2006-09-01 00:00:00
abstract:OBJECTIVES:The aim of the study was to understand the association between parents' perceptions of the decision process and the decision outcomes in decisions about the use of biologics in pediatric chronic conditions. METHODS:We mailed surveys to parents of children with inflammatory bowel disease or juvenile idiopath...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0000000000001425
更新日期:2016-12-01 00:00:00
abstract:SUMMARY:Randomized controlled trials in the pediatric population that support the efficacy of proton pump inhibitors for the treatment of gastroesophageal reflux (GER) are lacking. Studies are needed to establish the safety of long-term acid suppression in infants and children, as well as to confirm a causal relationsh...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章,评审
doi:10.1097/00005176-200311001-00012
更新日期:2003-11-01 00:00:00
abstract::To assess the effect of chronic administration of amino acids, glucose, and fat on hepatic excretory function, bile flow and bile salt secretion were directly measured in adult rabbits alimented either intravenously or intragastrically. Five groups of animals were studied after 9-11 days on different nutritional regim...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/00005176-198510000-00023
更新日期:1985-10-01 00:00:00
abstract::Milk was collected from eight mothers. Total lipid and free fatty acids were determined on collection. The samples were divided into aliquots and stored at 25, 4, or -11 degrees C for 6, 12, 24, or 48 h. Additional samples were stored at -11 or -70 degrees C for 1, 2, 4, 6, or 8 weeks. The effect of temperature, lengt...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/00005176-198709000-00019
更新日期:1987-09-01 00:00:00
abstract:BACKGROUND:It has been reported that feeding extensively hydrolyzed infant formula influenced the availability of arginine, glycine, histidine, lysine and threonine in full-term infants investigated during the first 2 months of life. In the present study, the nutritional effects of feeding partially hydrolyzed formula ...
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:10.1097/00005176-199807000-00003
更新日期:1998-07-01 00:00:00
abstract:BACKGROUND AND OBJECTIVES:Early microbial colonization has a key impact on infant health through nutritional, immunological, and metabolic programming. The origin of child snoring is multifactorial and complex, and may thereby also generate long-term health problems. The link between child snoring and gut microbes rema...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0000000000002161
更新日期:2019-02-01 00:00:00
abstract:OBJECTIVES:The geometric mean is the recommended method for calculating gastric emptying in adults to correct for variable attenuation during the study. In children, it has been reported that a single posterior acquisition is sufficient. Our objective was to evaluate the relation between the values of gastric emptying ...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0b013e31824ee2fa
更新日期:2012-08-01 00:00:00
abstract::The case report describes the clinical features, imaging findings, and pathology of a lymphangioendothelioma that almost entirely replaced the liver parenchyma in a neonate. No other organs were involved. ...
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:OBJECTIVES:A growing population of adolescents/young adults with eosinophilic esophagitis (EoE) and eosinophilic gastroenteritis (EGE) will need to transition from pediatric to adult health providers. Measuring health care transition (HCT) readiness is critical, but no studies have evaluated this process in EoE/EGE. We...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0000000000001415
更新日期:2017-07-01 00:00:00
abstract::Because of the variability of human milk carbohydrate composition, we determined the discriminant carbohydrate components of the milk of 18 mothers according to their ABH and Lewis secretor types during the first week of lactation. Comparative chromatograms revealed that the presence of neuraminyloligosaccharides is l...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/00005176-199010000-00014
更新日期:1990-10-01 00:00:00
abstract:OBJECTIVES:Herein we report the results of mutation-based screening for Wilson disease (WD) in 2 isolated populations of Sardinia and the Greek island of Kalymnos. PATIENTS AND METHODS:Mutation analysis was performed in 110 and 9 WD families originating respectively from Sardinia and Kalymons using single-strand confo...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0b013e31817094f6
更新日期:2008-09-01 00:00:00
abstract::The levels of secretory IgA and of IgM and IgG in colostrums and milks obtained at various times postpartum were measured by radial immunodiffusion. Immunoglobulin A was the dominant immunoglobulin in all samples, and concentrations in colostrum ranged from 1.5 to 83.7 g/L (mean 32 g/L). Immunoglobulin M and IgG had m...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/00005176-198201030-00018
更新日期:1982-01-01 00:00:00
abstract:BACKGROUND:The efficacy of a 1-week "triple therapy" in children with Helicobacter pylori gastritis and recurrent abdominal pain was studied. The effect of treatment was also studied in correlation to recurrent abdominal pain. METHODS:Thirty-two children with recurrent abdominal pain were investigated with H. pylori s...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/00005176-199810000-00010
更新日期:1998-10-01 00:00:00
abstract::Eighteen children and adolescents, of a total of 90 treated in our unit between 1982 and 1992, underwent colectomy for ulceractive colitis. Six (6.7%) of the 90 patients had short stature, i.e., a height below the 3rd centile, and 8 of the 18 who had surgery had a subnormal height velocity, i.e., below the 25th centil...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/00005176-199507000-00014
更新日期:1995-07-01 00:00:00
abstract::This document provides recommendations developed by the ESPGHAN Working Group on Probiotics and Prebiotics on the role of probiotics in the prevention of nosocomial diarrhea in children based on a systematic review of previously completed systematic reviews and of subsequently published randomized controlled trials. T...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章,实务指引
doi:10.1097/MPG.0000000000001637
更新日期:2018-01-01 00:00:00