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A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders FlagshipThe Australian Genomics Cardiovascular Disorders Flagship was a national multidisciplinary collaboration. It aimed to investigate the feasibility of genome sequencing and functional genomics to resolve variants of uncertain significance in the clinical management of patients and families with cardiomyopathies, primary arrhythmias, and congenital heart disease.
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Perinatal outcomes of Aboriginal women with mental health disordersMaternal mental disorders have been associated with adverse perinatal outcomes such as low birthweight and preterm birth, although these links have been examined rarely among Australian Aboriginal populations. We aimed to evaluate the association between maternal mental disorders and adverse perinatal outcomes among Aboriginal births.
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Twelve Tips for Inclusive Practice in Healthcare SettingsThis paper outlines practical tips for inclusive healthcare practice and service delivery, covering diversity aspects and intersectionality. A team with wide-ranging lived experiences from a national public health association's diversity, equity, and inclusion group compiled the tips, which were reiteratively discussed and refined. The final twelve tips were selected for practical and broad applicability.
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National brain tumour registry: a new era of research collaboration with ChinaCancer continues to be a leading cause of death globally. However, there remains a significant disparity in the reported incidence of cancer in developed countries, estimated to be 295.3 cases per 100,000 people, compared with only 115.7 in developing countries. Some of the reasons for this variation include lack of robust data collection with limited reporting systems, and insufficient data availability in the registries of these developing nations.
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Life in a time of COVID: retrospective examination of the association between physical activity and mental well-being in western Australians during and after lockdownThe aim of this study was to examine physical activity and sedentary behaviours during Western Australia's COVID-19 lockdown and their association with mental well-being.
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Validating the Communication and Symbolic Behavior Scales–Developmental Profile Infant–Toddler Checklist (CSBS–DP ITC) Beyond Infancy in the CDKL5 Deficiency DisorderCDKL5 deficiency disorder (CDD) results in early-onset epilepsy and lifelong cognitive and motor impairments. With no validated measure for communication in CDD, this study evaluated the psychometric properties of the Communication and Symbolic Behavior Scales-Developmental Profile Infant Toddler Checklist.
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Genome Sequence of a Lytic Staphylococcus aureus Bacteriophage Isolated from Breast MilkWe identified a double-stranded DNA (dsDNA) bacteriophage appearing to belong to Herelleviridae, genus Kayvirus. The bacteriophage, Biyabeda-mokiny 1, was isolated from breast milk using a clinical isolate of Staphylococcus aureus.
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Diabetic Ketoacidosis at Onset of Type 1 Diabetes and Long-term HbA1c in 7,961 Children and Young Adults in the Australasian Diabetes Data NetworkThe relationship between diabetic ketoacidosis (DKA) at diagnosis of type 1 diabetes and long-term glycemic control varies between studies. We aimed, firstly, to characterize the association of DKA and its severity with long-term HbA1c in a large contemporary cohort, and secondly, to identify other independent determinants of long-term HbA1c.
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Type I interferon subtypes differentially activate the anti-leukaemic function of natural killer cellsNatural killer (NK) cells have an intrinsic ability to detect and eliminate leukaemic cells. Cellular therapies using cytokine-activated NK cells have emerged as promising treatments for patients with advanced leukaemia. However, not all patients respond to current NK cell therapies, and thus improvements in efficacy are required.
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Victim-Survivors, Family and Domestic Violence Service Providers and Support People: Identification of Priority Issues for Research and Translation into Policy and PracticeThe rates of family and domestic violence (FDV) remain significantly high in Australia, and to address this, we need to ensure that victim-survivors of FDV are at the centre of these efforts. The research objective was to determine priority issues for future research and policy in FDV as determined by victim-survivors of FDV, providers of FDV services and informal support people.