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Research

Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus

In about half of all patients with a suspected monogenic disease, genomic investigations fail to identify the diagnosis. A contributing factor is the difficulty with repetitive regions of the genome, such as those generated by segmental duplications. The ATAD3 locus is one such region, in which recessive deletions and dominant duplications have recently been reported to cause lethal perinatal mitochondrial diseases characterized by pontocerebellar hypoplasia or cardiomyopathy, respectively.

Research

Measuring early childhood development with The Early Human Capability Index (eHCI): a reliability and validity study in China

With the importance of early childhood development more recognized by the international society, low-cost and cross-culturally comparable measures of early childhood development is in great demand, both in China and worldwide. In this study, we aim to test the psychometrics of the Chinese version of The Early Human Capability Index (eHCI), which is designed as a measurement for school readiness in large population.

Research

Process evaluation of a randomised controlled trial intervention designed to improve rehabilitation services for Aboriginal Australians after brain injury: the Healing Right Way Trial

Healing Right Way (HRW) aimed to improve health outcomes for Aboriginal Australians with stroke or traumatic brain injury by facilitating system-level access to culturally secure rehabilitation services. Using a stepped-wedge randomised controlled trial design, a two-pronged intervention was introduced in four rural and four urban hospitals, comprising cultural security training for staff and training/employment of Aboriginal Brain Injury Coordinators to support Aboriginal patients for 6-months post-injury.

Research

Abacavir inhibits but does not cause self-reactivity to HLA-B*57:01-restricted EBV specific T cell receptors

Pre-existing pathogen-specific memory T cell responses can contribute to multiple adverse outcomes including autoimmunity and drug hypersensitivity. How the specificity of the T cell receptor (TCR) is subverted or seconded in many of these diseases remains unclear. Here, we apply abacavir hypersensitivity (AHS) as a model to address this question because the disease is linked to memory T cell responses and the HLA risk allele, HLA-B*57:01, and the initiating insult, abacavir, are known.

FAQs

Want to know how to be involved with WAERP? Or how long the project is running for? View our Frequently Asked Questions (FAQs) for answers to these questions and more.

Research

“We are in this together”: Experiences of relationship satisfaction in couples raising a child with autism spectrum disorder

Couples can be supported in these key areas to strengthen their relationship to serve as a source of resilience for families with a child with ASD

Research

Viewpoints on what is important to maintain relationship satisfaction in couples raising a child with autism spectrum disorder

Couples should be supported to strengthen communication processes and work in partnership to raise their child with ASD through family-centred interventions

Research

Rheumatic heart disease: Tools for implementing programmes

This article discusses the World Health Organization program for monitoring & managing rheumatic heart disease.

Research

Consumer and community involvement in health and medical research: evaluation by online survey of Australian training workshops for researchers

The effect that attending a consumer and community participation had on their awareness of and attitudes to consumer and community involvement

Validating the Rett Syndrome Gross Motor Scale

Our study investigated the quality of measurements obtained using the Rett Syndrome Gross Motor Scale.