Abstract:
:Ornithine transcarbamylase deficiency (OTCD) is the most common of the urea cycle disorders and follows an X-linked inheritance pattern. The classical form in male infants causes vomiting and lethargy in the neonatal period; if untreated the severe hyperammonaemia can cause acute neurotoxic complications and permanent disability. OTCD may also occur in heterozygote female individuals, though the manifestations are variable. We report 2 cases of female paediatric patients with OTCD, who presented with acute liver failure. Both patients had limited oral intake at the time of presentation, causing an absence of orotic aciduria, which delayed the diagnosis. These cases demonstrate the need to consider urea cycle disorders in children presenting with acute liver failure, and that repeating the urine metabolic screen at the time of an unrestricted diet is warranted if there is a high clinical suspicion.
journal_name
J Pediatr Gastroenterol Nutrjournal_title
Journal of pediatric gastroenterology and nutritionauthors
Selvanathan A,Hertzog A,Lemberg DA,Ellaway Cdoi
10.1097/MPG.0000000000002716subject
Has Abstractpub_date
2020-08-01 00:00:00pages
208-210issue
2eissn
0277-2116issn
1536-4801journal_volume
71pub_type
杂志文章abstract:BACKGROUND:Duodenal gastric metaplasia is rarely reported in untreated celiac disease, although it is seen in 60% to 100% of duodenal biopsy specimens in nonceliac patients with histologic duodenitis. The low incidence could represent underreporting, a decreased incidence in pediatric patients generally, or the more di...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/00005176-200004000-00009
更新日期:2000-04-01 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::Enteral nutrition support (ENS) involves both the delivery of nutrients via feeding tubes and the provision of specialised oral nutritional supplements. ENS is indicated in a patient with at least a partially functioning digestive tract when oral intake is inadequate or intake of normal food is inappropriate to meet t...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章,实务指引
doi:10.1097/MPG.0b013e3181d336d2
更新日期:2010-07-01 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:OBJECTIVES:Adult-based guidelines support the use of the pull (extraction) endoscopic technique in managing esophageal food bolus impactions (FBIs) but allow the consideration of the push (advancement) technique with caution based on available published literature. The North American Society for Pediatric Gastroenterol...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0000000000001639
更新日期:2018-01-01 00:00:00
abstract::A calcium absorption investigation was carried out with the purpose of determining whether lactose-hydrolyzed milk facilitates calcium absorption in subjects with lactose malabsorption. Nine children participated in the study, which was divided into two investigation periods separated by at least 1 week. During the fi...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 临床试验,杂志文章
doi:10.1097/00005176-198403000-00009
更新日期:1984-03-01 00:00:00
abstract:OBJECTIVE:Eosinophilic oesophagitis (EE) is a clinical entity characterised by a set of symptoms and eosinophilic infiltration of the oesophageal epithelium. Recent reports indicate that EE is increasingly diagnosed in paediatric patients. We aimed to evaluate the epidemiology of paediatric EE in a European population....
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0b013e3181d1b107
更新日期:2010-09-01 00:00:00
abstract:OBJECTIVES:Oxidative stress has been implicated in the development of nonalcoholic fatty liver disease (NAFLD) and progression to the more severe form, nonalcoholic steatohepatitis (NASH), in children. We aimed to study the clinical correlation between bilirubin, a potent endogenous antioxidant with cytoprotective prop...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0b013e318291fefe
更新日期:2013-07-01 00:00:00
abstract::Alkaline phosphatase (AP) activity is an accepted marker of epithelial cell differentiation and integrity in intestinal mucosal explant systems. In experiments involving AP it is usually expressed as activity per unit protein in tissue culture. It has been previously demonstrated that during organ culture a considerab...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/00005176-198403000-00007
更新日期:1984-03-01 00:00:00
abstract::This study of 200 Uruguayans between 0 and 86 years old was designed to determine the prevalence of lactose malabsorption. Lactose intolerance is defined as a clinical syndrome of abdominal pain, diarrhea, flatulence, and bloating after the ingestion of a standard lactose tolerance test dose (2 g of lactose per kilogr...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/00005176-198705000-00012
更新日期:1987-05-01 00:00:00
abstract::The macronutrient, trace mineral, and immunological contents of milk of five moderately controlled, insulin-dependent diabetic women were studied at 3 months postpartum. Concentrations of total nitrogen, lactose, fat, and energy were not distinguishable from those in milk of nondiabetic women. Glucose concentrations i...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/00005176-198711000-00020
更新日期:1987-11-01 00:00:00
abstract:BACKGROUND:Feeding impairment frequently complicates the course of children with neurologic disorders and places them at risk for malnutrition and growth failure. Although feeding abnormalities have been reported in female patients with Rett syndrome, the mechanisms that account for these findings have not been elucida...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/00005176-199907000-00010
更新日期:1999-07-01 00:00:00
abstract:OBJECTIVES:Predicting short-term relapses and long-term prognosis is of utmost importance in paediatric inflammatory bowel disease (IBD). Our aim was to investigate the short-term disease outcome and medication during the first year in a paediatric incident cohort from Hungary. In addition, association laboratory marke...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0000000000000885
更新日期:2016-01-01 00:00:00
abstract:OBJECTIVES:To analyze the long-term results of Boerema anterior gastropexy using the Visick grading system in a university teaching hospital. METHODS:Retrospective review of 247 children with severe or complicated gastroesophageal reflux disease (GERD). Patients who underwent primary gastropexy between 1990 and 2001 w...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/01.mpg.0000215313.72826.bc
更新日期:2006-07-01 00:00:00
abstract:OBJECTIVES:The aim of the study was to validate a brief Bowel Habit Questionnaire (BHQ) with prospectively obtained data from a 14-day diary and to determine whether the BHQ predicts the development of medically significant constipation (MSC) during the following year. MATERIALS AND METHODS:The BHQ was distributed to ...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0b013e31822504fb
更新日期:2011-11-01 00:00:00
abstract:BACKGROUND:We analyzed the role that nutrition and the insulin-like growth factors IGF-I and IGFBP-3 play on neonatal growth. METHODS:Full-term and preterm infants with 1 and 3 weeks of postnatal life (n = 54 and n = 33, respectively) were studied. Anthropmetric variables, daily intake of energy and nutrients, and ser...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/00005176-199703000-00016
更新日期:1997-03-01 00:00:00
abstract:OBJECTIVES:Data on the outcomes of children with perianal Crohn disease (pCD) are limited, although its presence is often used for justifying early use of biologics. We aimed to assess whether pCD in children is associated with more severe outcomes as found in adults. METHODS:Data were extracted from the ImageKids dat...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0000000000001484
更新日期:2017-09-01 00:00:00
abstract::The influence of maternal folate status and human milk folate content on infant folate status was studied in 11 lactating women taking folate supplements throughout pregnancy and lactation. Nursing mothers not taking folate supplements, as well as nonpregnant, nonlactating women, were also studied. Maternal and infant...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:
更新日期:1983-11-01 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:The association between snacking habits and overweight in adolescents is unclear. We evaluated the relation between snacking patterns and overweight/obesity in a cohort of 11- to 13-year-old Italian adolescents. METHODS:The dietary habits of 400 randomly selected adolescents were evaluated; those with body ...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0000000000000453
更新日期:2014-10-01 00:00:00
abstract::Proton pump inhibitors such as lansoprazole are used in the treatment of gastroesophageal reflux disease (GERD), but dosing guidelines for infants have not been determined. The objective of this study was to assess the clinical efficacy of 2 dosing regimens of lansoprazole in infants with GERD using the revised infant...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章,随机对照试验
doi:10.1097/MPG.0b013e31815667d7
更新日期:2008-03-01 00:00:00
abstract::Current research is directed toward innovative dietary compositions that exert specific effects on health promotion and reducing the risk of diseases. For example, the demonstration that the gut microbiota is an important constituent in the intestine's mucosal barrier has led to new therapeutic strategies for infectio...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/01.mpg.0000302970.67997.db
更新日期:2007-12-01 00:00:00
abstract:OBJECTIVES:Microvillous inclusion disease (MVID) is a cause of intractable diarrhea in infancy. In its classic form, the disease is characterized by a severe persistent watery diarrhea starting within the first days of life. Parenteral nutrition and small bowel transplantation are the only known treatments for the affe...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0000000000000526
更新日期:2014-12-01 00:00:00
abstract::Parasitic infection of the gut is highly prevalent in developing countries and contributes to the severe malnutrition associated with persistent diarrhoea in children. Using random faecal alpha 1-antitrypsin measurements as an index of protein-losing enteropathy, we examined children with and without parasitic infecti...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/00005176-199211000-00006
更新日期:1992-11-01 00:00:00
abstract:OBJECTIVES:Current pediatric guidelines allow noninvasive diagnosis of celiac disease in selected children. We investigated in a large cohort study whether the severity of villous atrophy at diagnosis is associated with clinical characteristics or long-term health outcomes, thus having a prognostic significance. METHO...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0000000000002675
更新日期:2020-07-01 00:00:00
abstract:OBJECTIVES:Infant colic (IC), with an estimated prevalence of 5% to 25%, has a high impact on health care costs. Furthermore, reported negative sequelae are disturbed parent-infant interaction, increased susceptibility to abdominal pain, and even child abuse. Its etiology remains unknown, leading to a wide variety in i...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章,评审
doi:10.1097/MPG.0000000000000412
更新日期:2014-09-01 00:00:00
abstract:OBJECTIVES:Wilson disease (WD) is a rare inborn error of copper metabolism with diverse manifestations. There has been no study of zinc (Zn), the copper's antagonist, in WD diagnosis and severity so far. Our aims were to evaluate serum Zn in WD and its correlation with the disease severity score (revised WD index). Alt...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0000000000002007
更新日期:2018-09-01 00:00:00
abstract:BACKGROUND:Early postnatal glucocorticoid exposure accelerates the maturation of the bowel mucosa but results in bowel wall thinning in the newborn mouse ileum and increases the risk of focal ileal perforation in extremely premature infants. We have previously demonstrated a redistribution of insulin-like growth factor...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/00005176-200210000-00014
更新日期:2002-10-01 00:00:00
abstract:OBJECTIVES:Gastroesophageal reflux is common but remains a controversial disease to diagnose and treat and little is known about the role of reflux testing in predicting clinical outcomes, particularly in children at risk for extraesophageal reflux complications. The aim of this study was to determine if rates of hospi...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 临床试验,杂志文章
doi:10.1097/MPG.0000000000001092
更新日期:2016-08-01 00:00:00
abstract:OBJECTIVE:To describe the longitudinal pattern of dietary energy and macronutrient intakes during the first 10 years of life in a sample of healthy Italian children. PATIENTS AND METHODS:Sixty-one healthy children were followed from birth to 10 years of age. At 1, 5, 8, and 10 years of age, anthropometric measurements...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0b013e318058ca4e
更新日期:2007-07-01 00:00:00