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Research

Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis

This paper analyses genetic association data on biochemical markers of iron status from 11 European-population studies, with replication in eight additional...

Research

Description of total population hospital admissions for cleft lip and/or palate in Australia

Orofacial clefts are a group of frequently observed congenital malformations often requiring multiple hospital admissions over the lifespan of affected...

Research

Effect of sitting posture on development of scoliosis in duchenne muscular dystrophy cases

This study assessed the contribution of physical factors including lumbar posture to scoliosis in non-ambulatory youth with DMD in Nepal.

Research

Spatial and temporal variation in type 1 diabetes incidence in Western Australia from 1991 to 2010: Increased risk at higher latitudes and over time

This study analysed spatial and historical variation in childhood incidence of type 1 diabetes mellitus (T1DM) among Western Australia's 36 Health Districts...

Research

Associations Between Hyperphagia, Symptoms of Sleep Breathing Disorder, Behaviour Difficulties and Caregiver Well-Being in Prader-Willi Syndrome: A Preliminary Study

Prader-Willi syndrome (PWS) is a rare genetic disorder characterised by neurodevelopmental delays, hyperphagia, difficulties with social communication and challenging behaviours. Individuals require intensive supervision from caregivers which may negatively affect caregiver quality of life. This study used data collected in the Australasian PWS Registry to evaluate associations between child behaviours and caregiver mental well-being.

Research

Relationship Between Social Motivation in Children With Autism Spectrum Disorder and Their Parents

Impairment in social motivation (SM) has been suggested as a key mechanism underlying social communication deficits observed in autism spectrum disorder (ASD). However, the factors accounting for variability in SM remain poorly described and understood. The current study aimed to characterize the relationship between parental and proband SM. Data from 2,759 children with ASD and their parents from the Simons Simplex Collection (SSC) project was included in this study.

Research

Evaluation of an Australian neurological nurse-led model of postdischarge care

Neurological disorders are a leading cause of disease burden worldwide, placing a heavy demand on health systems. This study evaluated the impacts and cost savings of a community-based nursing service providing supported discharge for neurological patients deemed high-risk for unplanned emergency department presentations and/or hospital readmissions. It focused on adult patients with stroke, epilepsy, migraine/headache or functional neurological disorders discharged from a Western Australian tertiary hospital.

Research

Diverse Anti-Tumor Immune Potential Driven by Individual IFNα Subtypes

Our data shows that the expression of distinct IFNα subtypes within the tumor microenvironment results in different anti-tumor activities

Research

Validation of an Asbestos Job-Exposure Matrix (AsbJEM) in Australia: Exposure-Response Relationships for Malignant Mesothelioma

Accuracy of the AsbJEM in determining exposure-response relationships between asbestos exposure estimates and malignant mesothelioma incidence