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Research

Analytical bias in the measurement of serum 25-hydroxyVitamin D concentrations impairs assessment of Vitamin D status

This publication demonstrated considerable differences in the measurement of 25-hydroxyvitamin D concentrations compared with a certified laboratory, even...

Research

Psychosocial characteristics and predictors of health-care use in families of young children with cystic fibrosis in Western Australia

This study aimed to identify psychosocial predictors in cystic fibrosis that may inform intervention strategies.

Research

Effectiveness of seasonal trivalent influenza vaccination against hospital-attended acute respiratory infections in pregnant women

Influenza vaccination during pregnancy was associated with significantly fewer hospital attendances for ARI in pregnant women

Research

A comparison of parent-reported and self-reported psychosocial function scores of the PedsQL for children with non-severe burn

Quality of life of paediatric patients after burn injury is often assessed through parents who may score differently to their child. Non-severe burns are the most common type of burn injury in Western Australia, however, despite low severity and high survival rates, they can cause long term physical and psychosocial problems which need to be detected early in order to provide patients with optimal holistic care.

Research

Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome

In 2014, germline signal transducer and activator of transcription (STAT) 3 gain-of-function (GOF) mutations were first described to cause a novel multisystem disease of early-onset lymphoproliferation and autoimmunity.

Research

Effect of Preemptive Intervention on Developmental Outcomes Among Infants Showing Early Signs of Autism: A Randomized Clinical Trial of Outcomes to Diagnosis

Intervention for individuals with autism spectrum disorder (ASD) typically commences after diagnosis. No trial of an intervention administered to infants before diagnosis has shown an effect on diagnostic outcomes to date.

Research

New genetic loci link adipose and insulin biology to body fat distribution

Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing...

Research

Experience of gastrostomy using a quality care framework: The example of rett syndrome

Gastrostomy assisted the management of feeding difficulties and poor weight gain, and was acceptable to families

Research

Confirmation of childhood acute lymphoblastic leukemia Variants, ARID5B and IKZF1, and interaction with parental environmental exposures

The polygenic nature of childhood ALL predisposition together with the timing of environmental triggers may hold vital clues for disease etiology.