Crohn's Disease Localization Displays Different Predisposing Genetic Variants.

Background: Crohn's disease (CD) is a pathologic condition with different clinical expressions that may reflect an interplay between genetics and environmental factors. Recently, it has been highlighted that three genetic markers, NOD2, MHC and MST1, were associated to distinct CD sites, supporting the concept that genetic variations may contribute to localize CD. Genetic markers, previously shown to be associated with inflammatory bowel disease (IBD), were tested in CD patients with the aim to better dissect the genetic relationship between ileal, ileocolonic and colonic CD and ascertain whether a different genetic background would support the three disease sites as independent entities.

Natural history of pancreatic involvement in paediatric inflammatory bowel disease.

Background: Few case reports describe the clinical features of pancreatic involvement in inflammatory bowel disease.

Aim: To investigate prevalence and disease course of inflammatory bowel disease children with pancreatitis and with exclusive hyperamylasemia and hyperlipasemia.

Methods: We used a web-registry to retrospectively identify paediatric inflammatory bowel disease patients with hyperamylasemia and hyperlipasemia.

Branchio-Oto-Renal Syndrome (BOR) associated with focal glomerulosclerosis in a patient with a novel EYA1 splice site mutation.

Background: Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchial, ear, and renal anomalies. The most common gene mutated in BOR patients is EYA1, the human homolog of the Drosophila eyes absent gene, while mutations in SIX1 gene, the human homolog of sine oculis, encoding a DNA binding protein interacting with EYA1, have been reported less frequently. Recently, mutations in another SIX family member, SIX5, have been described in BOR patients, however, this association has not been confirmed by other groups.

Inflammatory bowel disease in children and adolescents in Italy: data from the pediatric national IBD register (1996-2003).

Background: The purpose was to assess in Italy the clinical features at diagnosis of inflammatory bowel disease (IBD) in children.

Methods: In 1996 an IBD register of disease onset was established on a national scale.

Results: Up to the end of 2003, 1576 cases of pediatric IBD were recorded: 810 (52%) ulcerative colitis (UC), 635 (40%) Crohn's disease (CD), and 131 (8%) indeterminate colitis (IC).

Intraduodenal lipase activity in celiac disease assessed by means of 13C mixed-triglyceride breath test.

Background: In patients with celiac disease, the occurrence of exocrine pancreatic insufficiency has been related to an impairment of the gut-mediated stimulatory effect of the meal on the pancreas. The purpose of this study was to assess the intraduodenal lipase activity in patients with celiac disease by means of the 13C mixed-triglyceride breath test and to monitor pancreatic function after the institution of a gluten-free diet.

Methods: Seventeen untreated patients with celiac disease (mean age, 17.

[Pancreatitis associated with salmonella].

There is no general agreement about the possibility that pancreatitis could be regarded as a clinical complication of Salmonella infection. We report 2 cases of salmonellosis WHO were admitted to our Department for clinical and biological signs of pancreatitis. Our observation agrees with other reported cases, suggesting that patients affected by salmonellosis with upper abdominal pain should be investigated for concomitant pancreatitis; on the other hand in patients suffering from diarrhea with hyperamylasaemia, salmonellosis should be considered as a likely explanation for their clinical condition.

[Melkersson-Rosenthal syndrome. A case report].

The Melkersson-Rosenthal syndrome is a rare disease of unknown pathogenesis. Classical signs include recurrent facial palsy, lingua plicata and orofacial edema. The diagnosis is often difficult when all features are not present at the same time: in the literature complete triads occurred in 25-30% of the patients.

[Chronic inflammatory bowel diseases in childhood. Case contribution and critical considerations].

The term "inflammatory bowel disease" describes 2 major categories of chronic disease: Crohn's disease and ulcerative colitis. Non specific chronic colitis and allergic colitis in childhood can usually be distinguished by clinical and histopathologic criteria. This study regards a retrospective analysis of 23 patients suffering from chronic inflammatory bowel disease.

[Achalasic megaesophagus with onset in the 1st year of life. A case report].

We report a case of esophageal achalasia in a nine months old baby. Recurrent cough and cyanosis were the most important clinical findings. Esophagomyotomy remarkably improved the clinical symptoms.