No abstract

Arthrogryposis, Renal dysfunction and Cholestasis (ARC) syndrome is a multi-system autosomal recessive disorder caused by germline mutations in VPS33B. The detection of germline VPS33B mutations removes the need for diagnostic organ biopsies (these carry a >50% risk of life-threatening haemorrhage due to platelet dysfunction); however, VPS33B mutations are not detectable in ~25% of patients. In order further to define the molecular basis of ARC we performed mutation analysis and mRNA and protein studies in patients with a clinical diagnosis of ARC. Here we report novel mutations in VPS33B in patients from Eastern Europe and South East Asia. One of the mutations was present in 7 unrelated Korean patients. Reduced expression of VPS33B and cellular phenotype was detected in fibroblasts from patients clinically diagnosed with ARC with and without known VPS33B mutations. One mutation-negative patient was found to have normal mRNA and protein levels. This patient's clinical condition improved and he is alive at the age of 2.5 years. Thus we show that all patients with a classical clinical course of ARC had decreased expression of VPS33B whereas DOI: 10.1002/humu.20900Mutations in ARC Syndrome E331 normal VPS33B expression was associated with good prognosis despite initial diagnosis of ARC.

Aim: To determine the nature and extent of interactions between retail pharmacists and families of infants concerned about functional gastrointestinal disorders. Methods: A 15-question online survey was developed that could be completed by retail pharmacists in approximately 5 min. This survey aimed to obtain information relating to the frequency of interactions with parents of infants seeking advice and/or information about colic, gastrooesophageal reflux (GOR) or constipation in pharmacies; what recommendations and/or advice was given by the pharmacists; from where the pharmacists obtained their information and what guidelines/recommendations they would value; and demographic information. Results: A total of 362 pharmacists from every state and territory within Australia completed the survey. Conversations with parents/carers about constipation at least once a week were reported by 85% of pharmacists, with the equivalent percentages for GOR and colic both being 76%. In the case of constipation, medication was recommended in 70% of cases, and a nutritional approach was recommended in 67% of cases. Medication was recommended in 81% of cases of suspected colic, significantly greater than nutritional advice at 50%. For possible GOR, recommendations were similar, with medication being suggested in 66% and nutritional advice in 68%. GOR guidelines were the most sought after, with 42% of pharmacists placing such guidelines as their number one need. Conclusions: This survey indicates the need for greater emphasis to be given to reassurance by health-care professionals involved in the management of functional gastrointestinal disorders in infancy, as well as consideration of the construction of easily accessible, evidence-based national guidelines.

Although a ubiquitous pathogen, cytomegalovirus (CMV) is very rarely thought to be the cause of significant gastrointestinal infection in the immunocompetent child. We report the case of a 2-month-old infant who presented with bloody diarrhoea and severe dehydration, which was subsequently diagnosed as CMV enterocolitis and resolved spontaneously without antiviral treatment.