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Reports and Findings

Research

A Novel Missense Mutation Affecting the N-terminal Domain of SAP Protein in X-linked Lymphoproliferative Disease

We have revealed a novel SH2D1A gene mutation in a patient with XLP resulting in fulminant refractory EBV-driven HLH, which is a recognized severe complication

Research

Early respiratory viral infections in infants with cystic fibrosis

Early viral infections were associated with greater neutrophilic inflammation and bacterial pathogens

Research

Use of remote monitoring with continuous glucose monitoring in young children with Type 1 diabetes: the parents’ perspective

Parents of primary school children reported that using remote monitoring and continuous glucose monitoring was a mostly beneficial experience

Research

Bowel patterns, gastrointestinal symptoms, and emotional well-being in adolescents: A cohort study

In adolescents, bowel patterns and gastrointestinal symptoms are diverse and show sex differences

Research

The impact of pre-pregnancy body mass index and gestational weight gain on placental abruption risk: a systematic review and meta-analysis

Mothers that are underweight prior to or in early pregnancy are at a moderately increased risk of placental abruption

Research

Disparities between Aboriginal and non-Aboriginal perinatal mortality rates in Western Australia from 1980 to 2015

This study aimed to examine the pattern of stillbirth and neonatal mortality rate disparities over time in Western Australia

Research

The challenges of developing and optimising an assay to measure 25-hydroxyvitamin D in saliva

We have developed an LC-MS/MS assay that accurately measures saliva 25(OH)D3 levels, which correlated with serum levels

Research

The gut microbiome and cardiovascular disease: current knowledge and clinical potential

This review will focus on the role of the gut microbiome and associated functional components in the development and progression of atherosclerosis

Research

Early-life exposure to electronic cigarettes: cause for concern

There are a multitude of ways that, with respect to early-life exposures and health, electronic nicotine delivery systems are a cause for concern