Abstract:
:We report on two Aboriginal patients with the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. Both presented with acute hepatic failure with severe hypertransaminasemia and coagulopathy, prompting evaluation for emergent liver transplantation. The diagnosis of HHH syndrome was based on the presence of typical metabolic abnormalities. A protein-restricted diet and L-arginine or L-citrulline supplementation were immediately started, with rapid normalization of liver function test results and other biochemical abnormalities. Molecular analysis of the SLC25A15 gene showed that the two patients were homozygous for the common French Canadian mutation (F188Delta). The diagnosis of HHH syndrome should be considered in patients with unexplained fulminant hepatic failure. There does not appear to be a genotype-phenotype correlation for this presentation, inasmuch as the only other reported patient presenting with this picture had two different point mutations. Early identification and prompt treatment of these patients is crucial to avoid liver transplantation and can be life saving.
journal_name
J Pediatr Gastroenterol Nutrjournal_title
Journal of pediatric gastroenterology and nutritionauthors
Mhanni AA,Chan A,Collison M,Seifert B,Lehotay DC,Sokoro A,Huynh HQ,Greenberg CRdoi
10.1097/MPG.0b013e318145a8e5subject
Has Abstractpub_date
2008-03-01 00:00:00pages
312-5issue
3eissn
0277-2116issn
1536-4801pii
00005176-200803000-00013journal_volume
46pub_type
杂志文章abstract::The clinical expression of allergic disease is the consequence of a series of complex gene-environment interactions that occur at the materno-fetal interface and throughout infancy, leading to persistence of the Th2 immune response. It has been proposed that atopic eczema is the cutaneous manifestation of a systemic d...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章,评审
doi:10.1097/01.mpg.0000338812.59686.6e
更新日期:2008-11-01 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::A new statistical approach to the analysis of laboratory data has been introduced to optimize the use of absorption tests and gliadin antibody measurement for the diagnosis of childhood celiac disease. Serum antigliadin antibodies, as well as blood xylose, iron, and tryglycerides after oral load, were evaluated in 40 ...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/00005176-198707000-00008
更新日期:1987-07-01 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::The permeability of the intestine was studied in 39 children (1 month to 3 years of age) with diarrhoea and in 28 children (6 months to 15 years of age) undergoing duodenal biopsy. Permeability was measured by differential absorption from an isotonic oral load containing 3.5 g lactulose, 0.5 g L-rhamnose, 0.5 g D-xylo...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:
更新日期:1985-08-01 00:00:00
abstract:OBJECTIVES:The present guidelines of the American Academy of Pediatrics recommend that osmolarity not exceed 450 mOsm/kg (or approximately an osmolarity of 400 mOsm/L) for breast milk or infant formulae, to minimize the risk factors for necrotizing enterocolitis. A commercial protein supplement has been developed to me...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0b013e3182a208c7
更新日期:2013-10-01 00:00:00
abstract::The widely held belief that 50% of the iron in human milk is absorbed is based on studies that have used an extrinsic radioactive iron tag. To determine the validity of an extrinsic tag, it is necessary to label the milk intrinsically with one isotope and to compare absorption of this isotope with absorption of anothe...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/00005176-198911000-00022
更新日期:1989-11-01 00:00:00
abstract::A prolonged but transient neonatal jaundice due to unconjugated hyperbilirubinemia was observed in two unrelated babies who were siblings of patients with Crigler--Najjar disease (Arias type I). The bilirubin-UDP-glucuronyl transferase activity measured in the liver of both patients, at the age of 6 and 7 months, resp...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:
更新日期:1982-01-01 00:00:00
abstract:OBJECTIVES:The aim of the present study was to evaluate diagnostic performance and actual costs in clinical practice of immumoglobulin (Ig)G/IgA deamidated gliadin peptide antibodies (DGP) as a complement to IgA antibodies against tissue transglutaminase (tTG) for the diagnosis of pediatric celiac disease (CD). METHOD...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0b013e3182645c54
更新日期:2012-12-01 00:00:00
abstract::This study was undertaken to determine the effect of reserpine on rat pancreatic growth, to evaluate if reserpine-caused alterations can be prevented by epidermal growth factor (EGF) and/or cerulein treatment, to evaluate the time course of rat pancreas recovery after reserpine, and to determine if EGF and/or cerulein...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/00005176-199307000-00006
更新日期:1993-07-01 00:00:00
abstract:BACKGROUND:Results of in vitro studies have documented colonic absorption of lactose in the newborn. A stable isotope model was developed for assessing the entry rate of intact lactose into the portal circulation in newborn piglets. METHODS:In experiment 1, unlabeled and [D-1-(13C)]-lactose were infused into two separ...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/00005176-199707000-00011
更新日期:1997-07-01 00:00:00
abstract::In order to study the influence of biliary secretions on the in situ kinetic data of brush border disaccharidases in relation to small intestinal villus-crypt architecture, an anastomosis was constructed between the common bile duct, which had been divided before its entrance into the pancreatic head, and the ileum in...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/00005176-198311000-00019
更新日期:1983-11-01 00:00:00
abstract:OBJECTIVES:The aim of the present study was to determine the incidence of peptic ulcer bleeding (PUB) in pediatric patients. METHODS:A hospital inpatient database, Premier Perspective, and an insurance claims database, MarketScan, were analyzed to estimate upper and lower limits for the annual incidence of PUB in the ...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0b013e31824fb7f9
更新日期:2012-06-01 00:00:00
abstract::Few advances would contribute more to the growth and well-being of infants and children in the developing world than the making available of acceptable staple foods that are easy to grow and process, nutritionally complete enough to serve as the major weaning food, and safe without refrigeration. High-fat quality-prot...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/00005176-199308000-00003
更新日期:1993-08-01 00:00:00
abstract::The effect of whole protein and L-amino acid ingestion on plasma amino acid concentrations was investigated in 10 men. Each subject ingested equivalent amounts of amino acids as cottage cheese (session 1), an L-amino acid mixture (session 2), and cottage cheese and L-amino acids (session 3). Postprandial changes from ...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/00005176-199302000-00008
更新日期:1993-02-01 00:00:00
abstract:OBJECTIVE:P-glycoprotein (P-gp), the functional product of the multidrug resistance gene (MDR), is a transmembrane protein that extrudes substrates from the intracellular environment. P-gp is expressed on the apical surface of epithelial cells and on cells from the hematopoietic lineage. Human MDR polymorphisms have be...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0b013e31822860f1
更新日期:2011-12-01 00:00:00
abstract:BACKGROUND:Abnormal gastroesophageal reflux after percutaneous endoscopic gastrostomy is a serious problem in neurologically impaired children. Protective fundoplication has been advocated. Whether esophageal pH monitoring before percutaneous endoscopic gastrostomy will predict later problems with gastroesophageal refl...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/00005176-199803000-00006
更新日期:1998-03-01 00:00:00
abstract:OBJECTIVE:The aim of the study was to assess the adequacy of polyunsaturated fatty acid intake by rural Bangladeshi children 24 to 48 months old in relation to their breast-feeding status. MATERIALS AND METHODS:Multistage sampling was used to select a representative sample of children 24 to 48 months of age from 2 rur...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0b013e3182042bc8
更新日期:2011-03-01 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:Shwachman's syndrome is the second most common cause of inherited/congenital pancreatic insufficiency after cystic fibrosis. The main associated features are usually cyclic neutropenia, metaphyseal dysostosis, and growth retardation. Other organs or functions may be involved in this syndrome, showing a wide ...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/00005176-199909000-00006
更新日期:1999-09-01 00:00:00
abstract:OBJECTIVE:Supplementing nutrition in children with severe epidermolysis bullosa (EB) is challenging because of skin and mucosal fragility. Percutaneous endoscopic gastrostomy is contraindicated in EB, whereas more invasive open surgical gastrostomy placement can be complicated by chronic leakage. The aim of the study w...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0000000000000256
更新日期:2014-05-01 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::Portal vein thrombosis (PVT) is a common cause of portal hypertension in children. Predisposing conditions for PVT are obscure in more than half of the cases. Variceal bleeding and splenomegaly are the most frequent initial manifestations. Radiologic imaging studies are the mainstay for diagnosis. Treatment includes p...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章,评审
doi:10.1097/MPG.0b013e3182a1cd7f
更新日期:2013-10-01 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::Although the pathophysiology of persistent diarrhea in children remains unclear, it has been suggested that it may be related to the composition of the food ingested. Since lactase deficiency and cow's milk protein intolerance are often identified in children with persistent diarrhea, replacement of milk with yogurt s...
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:10.1097/00005176-199011000-00011
更新日期:1990-11-01 00:00:00
abstract:OBJECTIVE:Fortified spreads (FSs) have proven effective in the rehabilitation of severely malnourished children. We examined acceptability, growth and change in blood haemoglobin (Hb) concentration among moderately underweight ambulatory infants given FS. METHODS:This was a randomised, controlled, parallel-group, inve...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章,随机对照试验
doi:10.1097/01.mpg.0000235981.26700.d3
更新日期:2006-10-01 00:00:00
abstract::BE is a disorder that occurs in children likely as a consequence of prolonged GE reflux of gastroduodenal contents. It usually presents with complications of GE reflux, but it also may be relatively silent in childhood and then present with adenocarcinoma in childhood or present in adulthood. Although seldom recognize...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章,评审
doi:
更新日期:1993-05-01 00:00:00
abstract::Oxyntic gland mucosal ribosomes from 7- to 30-day-old rats were assayed for their ability to synthesize endogenous messenger RNA (mRNA) and poly(U)-directed protein in a cell-free system. Normal rat liver cell sap (105,000 g supernatant) was used as a source for transfer RNA (tRNA) and activating enzymes. Total mucosa...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/00005176-198401000-00024
更新日期:1984-01-01 00:00:00
abstract:OBJECTIVE:The aetiology of biliary liver disease in children with intestinal failure treated with long-term parenteral nutrition (PN) is multifactorial. Risks include the lipid component of PN. The aim of the study was to compare prevalence and outcome of gallstones with different types of intravenous lipids. METHODS:...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0000000000000761
更新日期:2015-08-01 00:00:00
abstract:BACKGROUND AND OBJECTIVE:In the last 10 years, there have been an increasing number of case reports concerning gastrointestinal injury related to magnet ingestions; however, the magnitude of the problem remains to be clearly defined. The aim of the study was to examine the epidemiology of magnet ingestion-related emerg...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0b013e3182952ee5
更新日期:2013-07-01 00:00:00