Functional gastrointestinal disorders in infants: Practice, knowledge and needs of Australian pharmacists.

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, gastro-oesophageal 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.

Reduced Hepatocellular Expression of Canalicular Transport Proteins in Infants with Neonatal Cholestasis and Congenital Hypopituitarism.

Objective: To assess whether prolonged neonatal cholestasis, described in congenital hypopituitarism and septo-optic dysplasia (SOD), is associated with altered expression of selected canalicular ectoenzymes and canalicular transport proteins.

Study Design: Children with congenital hypopituitarism (n = 21), SOD (n = 18), and cholestasis seen in our center over 26 years were reviewed. Histopathologic findings in archival liver biopsy specimens were assessed (n = 10) and in those with low/normal levels of serum γ-glutamyltransferase (GGT) activity despite conjugated hyperbilirubinemia, expression of canalicular ectoenzymes and canalicular transport proteins was evaluated immunohistochemically.

Infant gastro-oesophageal reflux disease (GORD): Australian GP attitudes and practices.

Aim: The aim of this study was to evaluate the attitudes and practices of Australian general practitioners (GPs) regarding infant gastro-oesophageal reflux disease (GORD) diagnosis and management.

Methods: A national cross-sectional survey, involving a random sample of currently practising Australian GPs (n = 2319) was undertaken between July and September 2011. GPs attitudes and management of infant GORD were surveyed via an online and paper-based 41-item questionnaire.

Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletions.

A recurrent proximal microdeletion at 15q25.2 with an approximate 1.5 megabase smallest region of overlap has recently been reported in seven patients and is proposed to be associated with congenital diaphragmatic hernia (CDH), mild to moderate cognitive deficit, and/or features consistent with Diamond-Blackfan anemia.

Hedgehog signalling is downregulated in celiac disease.

Background: Celiac disease (CD) is a common autoimmune disorder of the small intestine that occurs in genetically predisposed individuals. Animal studies have suggested that the hedgehog (Hh) signalling pathway is involved in gut inflammation, injury and repair.

Objective: To examine the expression of components of the Hh signalling pathway in CD.

Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome.

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 approximately 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.

Acquisition of competence in paediatric ileocolonoscopy with virtual endoscopy training.

This study prospectively compared the rates of skill acquisition in ileocolonoscopy in 2 consecutive groups of trainees in paediatric gastroenterology, with 1 cohort exposed to virtual endoscopy. All paediatric gastroenterology trainees rotating through our department during a 7-year period between 1997 and 2004 were formally assessed while performing ileocolonoscopies using a trainer case-by-case method. Fourteen consecutive trainees with no previous experience of ileocolonoscopy were assessed.

Antenatal presentation of biliary atresia.

Objectives: To investigate the incidence, presence of associated anomalies, type of malformation, and natural history of children with biliary atresia (BA) who presented antenatally. Study design The database of 194 infants diagnosed with BA at our tertiary referral unit between 1991 and 2002 was reviewed for infants in whom routine antenatal ultrasound had revealed biliary cystic malformations (BCMs). A retrospective analysis of their medical records was undertaken.