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Research

Pain coping tools for children and young adults with a neurodevelopmental disability: A systematic review of measurement properties

To systematically identify and evaluate the measurement properties of patient-reported outcome measures (PROMs) and observer-reported outcome measures (parent proxy report) of pain coping tools that have been used with children and young adults (aged 0–24 years) with a neurodevelopmental disability.

Research

An evaluation of junior doctors’ experience in smoking cessation training in a rural mental health setting

The extent of lung hypoplasia impacts the survival and severity of Smoking prevalence remains high amongst people with mental illness, however, they are less likely to be screened for tobacco dependence and offered treatment to quit.

Research

Systematic In Vitro Evaluation of a Library of Approved and Pharmacologically Active Compounds for the Identification of Novel Candidate Drugs for KMT2A-Rearranged Leukemia

Patients whose leukemias harbor a rearrangement of the Mixed Lineage Leukemia (MLL/KMT2A) gene have a poor prognosis, especially when the disease strikes in infants. The poor clinical outcome linked to this aggressive disease and the detrimental treatment side-effects, particularly in children, warrant the urgent development of more effective and cancer-selective therapeutics.

Research

Eye Gaze in Autism Spectrum Disorder: A Review of Neural Evidence for the Eye Avoidance Hypothesis

Reduced eye contact early in life may play a role in the developmental pathways that culminate in a diagnosis of autism spectrum disorder. However, there are contradictory theories regarding the neural mechanisms involved. According to the amygdala theory of autism, reduced eye contact results from a hypoactive amygdala that fails to flag eyes as salient. However, the eye avoidance hypothesis proposes the opposite-that amygdala hyperactivity causes eye avoidance. This review evaluated studies that measured the relationship between eye gaze and activity in the 'social brain' when viewing facial stimuli.

Research

Functional validation of variants of unknown significance using CRISPR gene editing and transcriptomics: A Kleefstra syndrome case study

There are an estimated > 400 million people living with a rare disease globally, with genetic variants the cause of approximately 80% of cases. Next Generation Sequencing (NGS) rapidly identifies genetic variants however they are often of unknown significance.

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Initiating an undiagnosed diseases program in the Western Australian public health system

We describe the initiation and summary outcomes of a public health system approach for complex undiagnosed patients- the Undiagnosed Diseases Program - WA

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Probabilistic linkage of national immunisation and state-based health records for a cohort of 1.9 million births to evaluate Australia’s childhood immunisation program

To describe the process for assembling a linked study that will enable the conduct of population-based studies related to immunisation and immunisation policy.

Research

Prenatal omega-3 fatty acid supplementation does not affect offspring telomere length and F2-isoprostanes at 12 years: A double blind, randomized controlled trial

Maternal n-3 LCPUFA supplementation did not provide sustained effects on postnatal oxidative stress and telomere length as observed in the offspring

Research

Australasian Diabetes Data Network: Building a Collaborative Resource

A national collaboration was formed to provide longitudinal collection of T1D patient characteristics and outcomes, the Australasian Diabetes Data Network