Mutations resulting in charge reversal in the y-domain of PSTPIP1 (E→K) and increased interaction with pyrin cause a distinct autoinflammatory disorder defined by clinical and biochemical features not found in patients with PAPA syndrome, indicating a unique genotype-phenotype correlation for mutations in the PSTPIP1 gene. This is the first inborn autoinflammatory syndrome in which inflammation is driven by uncontrolled release of members of the alarmin family.

AIMTo assess the impact of disease characteristics on the quality of life (QOL) in children with inflammatory bowel diseases (IBD).METHODSThis was a cross-sectional study conducted at the First Department of Pediatrics of the University of Athens at the “Aghia Sophia” Children’s Hospital. Children diagnosed with Crohn’s disease (CD) or ulcerative colitis (UC), who were followed as outpatients or during a hospitalization, participated, after informed consent was obtained from their legal representative. QOL was assessed by the IMPACT-III questionnaire. Demographic data and disease characteristics were also collected. Statistical analyses included parametric (Student’s t-test and Pearson’s r) and non-parametric (Mann-Whitney test, Fisher’s test and Spearman’s rho) procedures.RESULTSNinety-nine patients (UC: 37, 73.0% females, CD: 62, 51.6% females), aged 12.8 ± 2.6 years were included. Overall, as well as, sub-domain scores did not differ between UC and CD (overall score: 73.9 ± 13.3 vs 77.5 ± 11.2, respectively, P = 0.16). In the entire sample, total score was related to physician’s global assessment (PGA, patients classified as “mild/moderate” active disease had, on average, 14.8 ± 2.7 points lower total scores compared to those “in remission”, P < 0.001) and age at IMPACT completion (Pearson’s r = 0.29, P = 0.05). Disease activity assessed by the indices Pediatric Ulcerative Colitis activity index, Pediatric Crohn’s disease activity index or PGA was significantly associated with all subdomains scores. Presence of extraintestinal manifestations had a negative impact on emotional and social functioning domains.CONCLUSIONDisease activity is the main correlate of QOL in children with IBD, underlining the importance of achieving and sustaining clinical remission

Iron-deficiency anaemia may be due to clinically inapparent H. pylori gastritis.

No abstract

Objectives: Mutations in Myosin 5B (MYO5B) are known to be associated with microvillous inclusion disease (MVID) a genetic cause of neonatal intractable diarrhoea. More recently, they have been reported in children with cholestasis but without typical gastrointestinal symptoms of MVID. We describe our series of children with cholestasis and mutations in MYO5B. Methods: Clinical, laboratory, and histological data were collected from patients with cholestasis and pathogenic mutations in MYO5B, found by next generation sequencing (NGS) but with minimal gastrointestinal disease. Results: Six patients (3 boys) were identified. Median age at presentation was 19 months (range, 3–92). Presenting features were jaundice, pale stools, pruritus, and failure to thrive. Patients 5 and 6 had intractable diarrhoea until the age of 3 and 7 years, respectively, but currently are on full enteral diet with no intestinal symptoms. Median values for serum total bilirubin were 55 μmol/L (2–500), alanine aminotransferase 73I IU/L (32–114), γ-glutamyltransferase 7 IU/L (7–10), and serum bile acids 134 μmol/L (18–274). Three patients underwent 1 or more types of biliary diversion for symptom control. Median follow-up was 5 years (2–22). At most recent follow-up, they all reported pruritus while on antipruritics. Patient 1 had a liver transplant. Conclusions: We identified 6 patients, with mutations in MYO5B, early-onset cholestasis and pruritus, with variable response to biliary diversion without typical MVID.

Coeliac disease is a genetic, immunologically mediated small bowel enteropathy that causes malabsorption. The immune inflammatory response to gluten frequently causes damage to many other tissues of the body. We report the association of coeliac disease and alopecia areata in two children, a 13-year-old girl and a 29-month-old girl. Both of our patients had immunoglobulin A (IgA) class endomysial antibodies, IgA and immunoglobulin G (IgG) antigliadin antibodies and subtotal villous atrophy on jejunal biopsy. Administration of a gluten-free diet to our patients resulted in complete hair growth and improved the gastrointestinal symptoms.

ObjectiveE-learning is a candidate tool for clinical practice guidelines (CPG) implementation due to its versatility, universal access and low costs. We aimed to assess the impact of a five-module e-learning course about CPG for acute gastroenteritis (AGE) on physicians’ knowledge and clinical practice.Study designThis work was conceived as a pre/post single-arm intervention study. Physicians from 11 European countries registered for the online course. Personal data, pre- and post-course questionnaires and clinical data about 3 to 5 children with AGE managed by each physician before and after the course were collected. Primary outcome measures included the proportion of participants fully adherent to CPG and number of patients managed with full adherence.ResultsAmong the 149 physicians who signed up for the e-learning course, 59 took the course and reported on their case management of 519 children <5 years of age who were referred to their practice because of AGE (281 and 264 children seen before and after the course, respectively). The course improved knowledge scores (pre-course 8.6 ± 2.7 versus post-course 12.8 ± 2.1, P < 0.001), average adherence (from 87.0 ± 7.7% to 90.6 ± 7.1%, P = 0.001) and the number of patients managed in full adherence with the guidelines (from 33.6 ± 31.7% to 43.9 ± 36.1%, P = 0.037).ConclusionsE-learning is effective in increasing knowledge and improving clinical practice in paediatric AGE and is an effective tool for implementing clinical practice guidelines.

No abstract