Variable phenotypic expression of chylomicron retention disease in a kindred carrying a mutation of the Sara2 gene.

Chylomicron retention disease is a recessive inherited disorder characterized by fat malabsorption and steatorrhea and is associated with failure to thrive in infancy. We describe a kindred carrying a mutation of Sara2 gene causing a chylomicron retention phenotype. The proband was a 5-month-old baby, born of consanguineous, apparently healthy parents from Morocco, with failure to thrive.

Duodenal bulb biopsies in celiac disease: a multicenter study.

Objectives: Celiac disease (CD)-related lesions have been reported in duodenal bulb biopsies, sometimes the bulb mucosa being the only one affected. The aim was to verify in a significant series whether histological lesions are always present in the bulb of celiac patients, what is the prevalence of lesions when isolated to the bulb, and if similar lesions are present in nonceliac subjects.

Methods: We studied 665 children with CD (241 males, range 9 months-15 years, 8 months), at diagnosis on a gluten-containing diet, and 348 age- and sex-matched gastroenterological controls submitted to upper endoscopy for gastroenterological complaints.

Reflux oesophagitis in children; the role of endoscopy. A multicentric Italian survey.

Background: The decision whether to perform endoscopy in children with suspected reflux oesophagitis is not a straightforward one. Few symptoms are specific for oesophagitis and the diagnosis is not always correlated even to visual findings on endoscopy.

Aim: The aim of this study was to define the role of endoscopy and especially of histology in the diagnosis of reflux oesophagitis and to examine the correlations between symptoms, endoscopic findings and histology in children with suspected gastroesophageal reflux disease.

[Antigen detection in stools as a first choice for laboratory diagnosis of Helicobacter pylori disease].

Background: Several techniques have been suggested for Helicobacter pylori infection diagnosis, invasive (histology) and not invasive (Urea Breath Test C13, or serological assays). An enzyme immunoassay able to detect Helicobacter pylori antigen directly in stool specimens was recently developed. A study was carried out in order to evaluate the sensibility and the specificity of this test comparing it with the Urea Breath Test C13 and histology.

Dual vs. triple therapy for childhood Helicobacter pylori gastritis: a double-blind randomized multicentre trial.

Background: Data on the efficacy of eradication treatment for Helicobacter pylori gastritis in children are scarce.

Aim: To evaluate the efficacy of triple therapy with lansoprazole plus amoxicillin and tinidazole vs. dual therapy with amoxicillin and tinidazole in a double-blind randomized multicentre trial, and the usefulness of eradication in terms of long-term symptom resolution.