Urea breath test in children: the United States prospective, multicenter study.

Background: The urea breath test (UBT) is generally considered the gold standard for the diagnosis of Helicobacter pylori infections in adults.

Goals: To investigate the utility and accuracy of urea breath testing in children from the United States.

Methods: Children scheduled to undergo upper gastrointestinal endoscopy for various clinical symptoms underwent a 13C-UBT using the US standard protocol for adults.

Use of the recto-sigmoid index to diagnose Hirschsprung's disease.

The recto-sigmoid index on barium enema may aid in the diagnosis of Hirschsprung's disease. However, data on its reliability in different age groups are sparse. The recto-sigmoid index and transitional zone were evaluated blindly in 107 patients with diagnostic rectal suction biopsies.

Association of the T allele of an intronic single nucleotide polymorphism in the colony stimulating factor 1 receptor with Crohn's disease: a case-control study.

BACKGROUND: Polymorphisms in several genes (NOD2, MDR1, SLC22A4) have been associated with susceptibility to Crohn's disease. Identification of the remaining Crohn's susceptibility genes is essential for the development of disease-specific targets for immunotherapy. Using gene expression analysis, we identified a differentially expressed gene on 5q33, the colony stimulating factor 1 receptor (CSF1R) gene, and hypothesized that it is a Crohn's susceptibility gene.

Use of infliximab in pediatric patients with inflammatory bowel disease.

Background: The concentration of tumor necrosis factor, a proinflammatory cytokine, is increased in the gastrointestinal mucosa of patents with active Crohn's disease (CD) and ulcerative colitis (UC). Neutralization of tumor necrosis factor decreases the mucosal inflammatory response of adults with CD. Little information is available on the use of monoclonal antibody to tumor necrosis factor (infliximab) in children and adolescents with CD or UC.

Detection of interferon regulatory factor-1 in lamina propria mononuclear cells in Crohn's disease.

Background: The transcription factor, interferon regulatory factor (IRF)-1, is stimulated by interferon-gamma and regulates the expression of several genes implicated in the pathogenesis of inflammatory bowel disease, including interleukin-6, major histocompatibility complex class II molecules, and inducible nitric oxide synthase. Interferon regulatory factor-1 also stimulates naive CD4+ T-cells to differentiate into T-helper-1 cells, the T-cell subset that appears to be upregulated in Crohn's disease. The purpose of this study was to examine the expression of IRF-1 in the nuclei of lamina propria mononuclear cells in situ in colonoscopic biopsy specimens from pediatric patients with Crohn's disease, in patients with ulcerative colitis, and in control patients with no histopathologic abnormalities.

Delayed diagnosis of fatal medium-chain acyl-CoA dehydrogenase deficiency in a child.

A 5-year-old white female presented with coma and died unexpectedly. She had a history of recurrent episodes of febrile illnesses associated with lethargy and coma. Postmortem investigation revealed a fatty liver, leading to a suspicion of inborn error of fatty acid oxidation.

Highly destructive perianal Crohn's disease.

This article reports a case of highly destructive perianal Crohn's disease in a 15-year-old boy who presented with fecal impaction and incontinence. Both upper and lower gastrointestinal tract endoscopy were unrevealing. Treatment with intravenous prednisolone and broad-spectrum antibiotics supplemented by enteral feeding with an elemental diet resulted in prompt recovery.

Analysis of carnitine esters by radio-high performance liquid chromatography in cultured skin fibroblasts from patients with mitochondrial fatty acid oxidation disorders.

Acylcarnitines are important diagnostic markers for inborn errors of fatty acid oxidation, but their analysis in body fluids may not always be reliable. Recently, disease-specific acylcarnitine profiles generated by cultured skin fibroblasts were reported to facilitate the diagnosis by localizing a specific enzymatic defect in the mitochondrial beta-oxidation pathway. Using a novel methodologic approach, fibroblasts from 16 patients with inborn errors of fatty acid oxidation and 13 control subjects were preincubated with L-[3H]carnitine to label the intracellular carnitine pool.

Gastroesophageal reflux and Nissen fundoplication following percutaneous endoscopic gastrostomy in children.

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 reflux is unclear.

Neonatal nutritional carnitine deficiency: a piglet model.

The clinical significance of nutritional carnitine deficiency remains controversial. To investigate this condition under controlled conditions, an animal model was developed using the parenterally alimented, carnitine-deprived newborn piglet. Forty-five piglets received total parenteral nutrition for 2-3 wk that was either carnitine-free or supplemented with 100-400 mg/L L-carnitine.

Isovaleric acidemia: response to a leucine load after three weeks of supplementation with glycine, L-carnitine, and combined glycine-carnitine therapy.

Objective: To assess the effectiveness of glycine and carnitine therapy on isovaleryl conjugate excretion in isovaleric acidemia (IVA).

Study Design: Urinary isovalerylglycine (IVG) and isovalerylcarnitine (IVC) were measured from 12-hour urine specimens collected overnight from an 8-year-old patient with IVA (who had no residual activity of isovaleryl-CoA dehydrogenase in fibroblasts) before and during 3-week courses of supplementation with glycine alone (250 mg/kg per day), L-carnitine alone (100 mg/kg per day) therapy, and both of these agents combined, with a 2 gm leucine challenge performed at the end of each treatment period.

Results: Isovalerylglycine was the predominant metabolite excreted throughout the study, and its mean value doubled with glycine treatment.

Quantitation of short- and medium-chain acylcarnitines in plasma by radioisotopic exchange/high-performance liquid chromatography.

A method for the quantitation of short- and medium-chain acylcarnitines in plasma and its clinical application are described. The method is based on enzymatic exchange of L-[3H]carnitine into the acylcarnitine pool, subsequent separation of labeled acylcarnitines by high-performance liquid chromatography, and quantitation of the radioactivity by a beta flowthrough detector. Since only acylcarnitines are detected, no sample cleanup procedure is required.

Clinical and biochemical characterization of short-chain acyl-coenzyme A dehydrogenase deficiency.

Objective: We identified two additional patients with short-chain acyl-coenzyme A (CoA), further characterized the clinical and biochemical features of this defect, and compared it with other fatty acid oxidation defects.

Design: We have measured the in vitro short-chain acyl-coenzyme A dehydrogenase (SCAD) activity in six affected persons with the electron-transfer flavoprotein-linked assay in the presence and absence of anti-medium-chain acyl-CoA dehydrogenase antibody. Urine organic acids, acylglycines, acylcarnitines, and radiolabeled substrate catabolism by skin fibroblasts were also examined.

A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts.

We describe four Italian male infants with a novel clinical phenotype characterized by orthostatic acrocyanosis, relapsing petechiae, chronic diarrhea, progressive pyramidal signs, mental retardation, and brain magnetic resonance imaging abnormalities. The first symptoms appeared after the termination of breast-feeding and introduction of formula feeding. Marked persistent 2-ethylmalonic aciduria was associated with abnormal excretion of C4-C5(n-butyryl-, isobutyryl-, isovaleryl-, and 2-methylbutyryl-)acylglycines and acylcarnitines and with intermittent lactic acidosis.

Population screening for medium-chain acyl-CoA dehydrogenase deficiency: analysis of medium-chain fatty acids and acylglycines in blood spots.

We have developed methods for the measurement of the medium-chain fatty acids octanoate, decanoate and cis-4-decenoate and the acylglycines n-hexanoylglycine (HG) and 3-phenylpropionylglycine (PPG) in blood spots using gas chromatography and mass spectrometry. Normal ranges were obtained for octanoate and decanoate. HG, PPG and cis-4-decenoic acid were not detected in control blood spots.