Clinical Presentations of Celiac Disease: Experience of a Single Italian Center.

Background/objectives: In Italy, the prevalence of celiac disease (CeD) among children exceeds 1.5% and has steadily increased with a linear trend over the past 25 years. The clinical presentation is heterogenous and a change in onset symptoms has been described in recent years.

Anderson-Fabry Disease: Focus on Ophthalmological Implications.

Fabry disease (FD) is a rare X-linked lysosomal storage disorder with a broad spectrum of clinical manifestations, including severe complications, such as end-stage renal disease, hypertrophic cardiomyopathy, and cerebrovascular disease. Enzyme replacement therapy (ERT), when initiated early, has been shown to reduce the incidence of severe events and slow disease progression. In the classic form, characterized by the absence of α-galactosidase A (α-Gal A) enzyme activity, diagnosis is straightforward.

Short-term Psychodynamic Psychotherapy in Addition to Standard Medical Therapy Increases Clinical Remission in Adolescents and Young Adults with Inflammatory Bowel Disease: a Randomised Controlled Trial.

Background: Inflammatory bowel diseases [IBD] are chronic and pervasive conditions of the gastrointestinal tract with a rising incidence in paediatric and young adult populations. Evidence suggests that psychological disorders might be associated with relapse of disease activity. This study aims to evaluate the efficacy of short-term psychodynamic psychotherapy [STPP] in addition to standard medical therapy [SMT] in maintaining clinical remission in adolescents and young adults [AYA] with quiescent IBD, compared with SMT alone.

Transition of inflammatory bowel disease patients from pediatric to adult care: an observational study on a joint-visits approach.

Background: Transition from pediatric to adult care of patients affected by Inflammatory Bowel Disease (IBD) is a critical step that needs specific care and multidisciplinary involvement. The aim of our study was to evaluate the outcome of the transition process of a cohort of IBD patients, exploring their readiness and the possible impact on quality of life.

Methods: This observational study followed transitioned IBD patients from pediatric to adult care.

Autoimmune liver diseases and inflammatory bowel diseases in children: current issues and future perspectives.

Inflammatory bowel diseases (IBDs) represent a group of intestinal disorders with a chronic and relapsing inflammation of the gut, and with a potential risk of systemic involvement of other organs and systems. Over the pediatric age, an incidence higher than 20% of developing extraintestinal manifestation during follow-up has been reported. The liver and the biliary system are frequently involved, and primary sclerosing cholangitis (PSC) is the most predominant entity with an incidence rate of 6.

Pediatric inflammatory bowel disease: specificity of very early onset.

Introduction: The incidence of inflammatory bowel disease (IBD) has increased over the last 50 years. It is now recognized that several genetic defects can express an IBD-like phenotype at very early onset (<6 years).

Areas Covered: The aim of this review was to update knowledge concerning the specificity of IBD at onset <6 years, which can include conventional/standard IBD as well as monogenic IBD-like diseases.

The clinical implications of thalidomide in inflammatory bowel diseases.

Thalidomide has anti-inflammatory and anti-angiogenetic activity that makes it suitable for treating inflammatory bowel diseases (IBD). The recent guidelines from the European Crohn's and Colitis Organization/European Society for Pediatric Gastroenterology Hepatology and Nutrition conclude that thalidomide cannot be recommended in refractory pediatric Crohn's disease but that it may be considered in selected cohorts of patients who are not anti-TNFα agent responders. The main adverse effect is the potential teratogenicity that renders the long-term use of thalidomide problematic in young adults due to the strict need for contraceptive use.

Thalidomide as rescue therapy for acute severe ulcerative colitis.

Introduction: Acute severe exacerbations of Ulcerative Colitis (UC) represent a medical emergency in children and adults. Intravenous steroids remain the first line therapy for this condition, although the steroid refractoriness is common. Second-line therapy, based on the infliximab or thiopurines should be started if no response to corticosteroids is noted.

Chronic pancreatitis as presentation of Crohn's disease in a child.

It is reported that a pancreatic disease may precede the diagnosis of inflammatory bowel disease (IBD) both in children and in adults. Idiopathic chronic pancreatitis, however, occasionally co-exists with the IBD, mainly at pediatric age. We report a case of a patient who progressively developed the features of a chronic pancreatitis, before the diagnosis of Crohn's Disease (CD).

Association between celiac disease and primary lactase deficiency.

Primary lactase deficiency (PLD) is a common inherited condition caused by a reduced activity of lactase. Two single-nucleotide polymorphisms C/T(-13910) and G/A(-22018) upstream of the lactase gene are associated with lactase nonpersistence. In celiac disease (CD) patients, lactose intolerance could be due to secondary lactase deficiency and to PLD.

Plasma citrulline as surrogate marker of intestinal inflammation in pediatric and adolescent with Crohn's disease: preliminary report.

Purpose: Several researchers have found that plasma citrulline could be a marker of reduced enterocyte mass. The aim of this study was to assess the relationship between plasma citrulline and bowel inflammation and/or disease location in pediatric and adolescent Crohn's disease (CD) patients.

Methods: Between January 2008 and January 2010, 31 CD patients and 44 controls were included in our study, and 15 out of the 31 CD patients continued a prospective survey.

Diagnostic work-up of inflammatory bowel disease in children: the role of calprotectin assay.

Background: Some reports highlight the potential application of fecal calprotectin as a direct biomarker of intestinal inflammation and, therefore, as support in choosing candidates for endoscopy. The value of 100 μg/g was recently assumed as the best cutoff for this assay. The purpose of this study was to assess the diagnostic precision of the fecal calprotectin assay, compared to histology, as a stool-screening biomarker for inflammatory bowel disease (IBD) among a group of prospectively identified patients referred for recurrent abdominal pain and altered bowel habits.

Incidence, clinical presentation, and management of constipation in a pediatric ED.

Objectives: The study aimed to assess, in pediatric patients presenting to the emergency department (ED), the incidence of visit to the ED for functional constipation (FC), symptoms, signs of presentation, and management from ED physicians.

Design: This is a retrospective study of hospital records for a period of 1 year at the ED of "Bambino Gesù" Children's Hospital, Rome, Italy. Children younger than 15 years discharged from ED with a diagnosis of FC in the 1-year period were included.

Irreversible intestinal failure: prevalence and prognostic factors.

Background And Aim: Parenteral nutrition (PN) is the primary treatment for intestinal failure, which is considered irreversible in patients who remain partially or fully dependent on PN. Causes of irreversible intestinal failure are short bowel syndrome (SBS), motility disorders (MD), and severe protracted diarrhea (SPD). The aim of this study was to report the clinical outcome in these patients in relation to the underlying disease.

Positive impact of blocking tumor necrosis factor alpha on the nutritional status in pediatric Crohn's disease patients.

Background: TNFalpha seems to contribute to inflammation and malnutrition in Crohn's disease (CD) patients. In CD patients, the comparative effects on nutritional status of infliximab and traditional therapy have not yet been determined. The aim of our study was to assess the effects of infliximab as compared with those of standard therapy on nutritional status, disease activity, resting energy expenditure (REE), and food intake in CD children and adolescents.

"Open" abdominal surgery for large incisional hernias. Proposal of a personal technique.

Incisional hernia is still a serious complication of abdominal surgery because of its substantial incidence. We have to reduce the rate of complications and, if possible, correct the aesthetic defect due to the pathology itself. The complications are directly related to different factors (surgeon, technique, type of mesh used, patients with associated pathologies etc.

Clinical role of calprotectin assay in determining histological relapses in children affected by inflammatory bowel diseases.

Background: Inflammatory bowel diseases (IBD) are characterized by periods of remission with recurrent episodes of symptom exacerbation because of acute intestinal inflammation, which is correctly evaluated by endoscopy with biopsy sampling. However, many surrogate markers of intestinal inflammation, including fecal calprotectin (FC), are detected as potential predictors of mucosal inflammation in IBD patients. The aim of our study was to retrospectively assess the clinical efficacy of the calprotectin assay in determining histological relapses of pediatric IBD patients.