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Whole genome sequencing offers significant potential to improve the diagnosis and treatment of rare diseases by enabling the identification of thousands of rare, potentially pathogenic variants. Existing variant prioritisation tools can be complemented by approaches that incorporate phenotype specificity and provide contextual biological information, such as tissue or cell-type specificity.
This paper outlines the theory of change which underpins the Western Australian (WA) hub of the Healthy Environments and Lives (HEAL) network. HEAL is an Australian national research initiative that aims to address the health impacts of climate and environmental change. The WA hub's theory of change is focused on improving the health and well-being of the planet and people, including children, through centring Indigenous sovereignty, voices and ways of knowing and being in research, policy development and service provision.
To test the efficacy of Hand Arm Bimanual Intensive Therapy Including Lower Extremity (HABIT-ILE) to improve gross motor function, manual ability, goal performance, walking endurance, mobility, and self-care for children with bilateral cerebral palsy.
Adolescents and young adults with type 1 diabetes have an increased risk of psychological distress. To address this, psychological support provided asynchronously via an app may be feasible. Our study aimed to explore feasibility and safety of the LIFT wellbeing app.
To identify factors influencing the completion of a three-dose course of weekly intramuscular benzathine penicillin G injections by adults and adolescents with syphilis of unknown duration or late syphilis.
Skin health is widely recognised as being important for overall good health and well-being, yet the burden of skin infections in remote Aboriginal communities remains high. This project aimed to explore if virtual support for skin health could be a strategy to reduce community barriers to skin health engagement.
Cytokines of the TGF-β superfamily control essential cell fate decisions via receptor regulated SMAD (R-SMAD) transcription factors. Ligand-induced R-SMAD phosphorylation in the cytosol triggers their activation and nuclear accumulation. We determine how R-SMADs are inactivated by dephosphorylation in the cell nucleus to counteract signaling by TGF-β superfamily ligands.
In high-transmission areas, school-aged children have higher malaria prevalence and contribute significantly to the transmission reservoir. Malaria infections can be asymptomatic or present with symptoms which may contribute to anaemia, severe illness and fatal malaria. This analysis provides trends of malaria prevalence and associated risk factors among school-aged children in mainland Tanzania.
In Western Australia (WA) social activities occur in aquatic environments where alcohol promotion and consumption may be prevalent creating an aquatic alcogenic environment. This poses a challenge for drowning prevention efforts.
We report the isolation of a bacteriophage with obligately lytic activity against Pseudomonas aeruginosa from wastewater. The reported phage, Minga-mokiny 4, appears to belong to the Schitoviridae family, is of the Litunavirus genus, and has a 72,362-bp genome. No known genes associated with lysogeny, bacterial resistance, or virulence were predicted.