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Research

Risk averse practice has dominated the child protection field for decades, with high-profile child deaths, ever-tightening surveillance, and regulation of families. In this context, the practice of social work as ‘risk work’ including the use of risk assessment tools has been subject to substantial scholarly investigation. Less attention has been paid to the community organisations that play a central role in supporting child protection-involved parents. Based on interviews with Australian community workers, we examine their negotiation of the parent support/parent risk dichotomy.

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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.

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Multi-jurisdictional cohort of mother-infant pairs to measure the uptake, safety and effectiveness of antenatal IIV and dTpa vaccines in three Australian jurisdictions

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Occult maternal heart disease may be responsible for a substantial proportion of adverse pregnancy outcomes in low-resource settings

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Here we investigate these features in an animal model related to autism spectrum disorder - the DVD-deficient rat

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CDKL5 deficiency disorder (CDD) is a genetically caused developmental epileptic encephalopathy that causes severe communication impairments. Communication of individuals with CDD is not well understood in the literature and currently available measures are not well validated in this population. Accurate and sensitive measurement of the communication of individuals with CDD is important for understanding this condition, clinical practice, and upcoming interventional trials. 

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The social determinants of health such as access to income, education, housing and healthcare, strongly shape the occurrence of acute rheumatic fever and rheumatic heart disease at the household, community and national levels. 

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Respiratory syncytial virus (RSV) remains a leading cause of mortality and morbidity worldwide. RSV seasonality was disrupted by COVID-19-associated nonpharmaceutical interventions (NPIs). We review RSV seasonality, molecular epidemiology, clinical manifestations, and community awareness to inform future prevention strategies. 

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Indigenous Australians harbour rich and unique genomic diversity. However, Aboriginal and Torres Strait Islander ancestries are historically under-represented in genomics research and almost completely missing from reference datasets. Addressing this representation gap is critical, both to advance our understanding of global human genomic diversity and as a prerequisite for ensuring equitable outcomes in genomic medicine.

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Although entirely preventable, rheumatic heart disease, a disease of poverty and social disadvantage resulting in high morbidity and mortality, remains an ever-present burden in low-income and middle-income countries and rural, remote, marginalised and disenfranchised populations within high-income countries.