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        Refining nosology by modelling variation among facial phenotypes: The RASopathies

        In clinical genetics, establishing an accurate nosology requires analysis of variations in both aetiology and the resulting phenotypes. At the phenotypic level, recognising typical facial gestalts has long supported clinical and molecular diagnosis; however, the objective analysis of facial phenotypic variation remains underdeveloped. ...

        Research

        Common and Rare Genetic Variants That Could Contribute to Severe Otitis Media in an Australian Aboriginal Population

        Our goal was to identify genetic risk factors for severe otitis media (OM) in Aboriginal Australians. ...

        Research

        Autism-related dietary preferences mediate autism-gut microbiome associations

        There is increasing interest in the potential contribution of the gut microbiome to autism spectrum disorder (ASD). However, previous studies have been underpowered and have not been designed to address potential confounding factors in a comprehensive way. ...

        Research

        Development and validation of a miniaturized bacteriophage host range screening assay against antibiotic resistant Pseudomonas aeruginosa

        Antimicrobial resistance is a current global health crisis, and the increasing emergence of multidrug resistant infections has led to the resurgent interest in bacteriophages as an alternative treatment. ...

        Research

        The Spectrum, Severity and Outcomes of Rheumatic Mitral Valve Disease in Pregnant Women in Australia and New Zealand

        Rheumatic heart disease (RHD) poses significant perinatal risks. We aimed to describe the spectrum, severity and outcomes of rheumatic mitral valve disease in pregnancy in Australia and New Zealand. ...

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        School-based depression and anxiety prevention programs: An updated systematic review and meta-analysis

        Depression and anxiety are often first experienced during childhood and adolescence, and interest in the prevention of these disorders is growing. The focus of this review was to assess the effectiveness of psychological prevention programs delivered in schools, and to provide an update to our previous review from five years ago (Werner-Seidler, Perry, Calear, Newby, & Christensen, 2017). ...

        Research

        PATZ1 fusions define a novel molecularly distinct neuroepithelial tumor entity with a broad histological spectrum

        Large-scale molecular profiling studies in recent years have shown that central nervous system (CNS) tumors display a much greater heterogeneity in terms of molecularly distinct entities, cellular origins and genetic drivers than anticipated from histological assessment. ...

        Research

        Climate change, activism, and supporting the mental health of children and young people: Perspectives from Western Australia

        The climate crisis has detrimental impacts on the mental health and wellbeing of children and young people. Psychological effects include feelings of fear, overwhelm, worry, distress, hopelessness and anger; PTSD; depression; anxiety; phobias; panic disorder; sleep disturbances; attachment disorders; learning difficulties; substance abuse; shock and trauma symptoms; adjustment problems; behavioural problems; and, suicidal thinking. ...

        Research

        Consensus guidelines for improving patients' understanding of invasive fungal disease and related risk prevention in the haematology/oncology setting, 2021

        Patients with invasive fungal disease (IFD) are at significant risk of morbidity and mortality. A productive partnership between patients, their carers/families, and the multidisciplinary team managing the infection and any underlying conditions, is essential. ...

        Research

        Target identification for small-molecule discovery in the FOXO3a tumor-suppressor pathway using a biodiverse peptide library

        Genetic screening technologies to identify and validate macromolecular interactions (MMIs) essential for complex pathways remain an important unmet need for systems biology and therapeutics development. Here, we use a library of peptides from diverse prokaryal genomes to screen MMIs promoting the nuclear relocalization of Forkhead Box O3 (FOXO3a), a tumor suppressor more frequently inactivated by post-translational modification than mutation. ...

        Research

        A multi-country investigation of influenza vaccine coverage in pregnant individuals, 2010–2016

        Many countries recommend influenza vaccination during pregnancy. Despite this recommendation, influenza vaccine among pregnant individuals remains under-utilized and uptake varies by country. Factors associated with influenza vaccine uptake during pregnancy may also vary across countries. ...

        Research

        Australian Aboriginal Otitis-Prone Children Produce High-Quality Serum IgG to Putative Nontypeable Haemophilus influenzae Vaccine Antigens at Lower Titres Compared to Non-Aboriginal Children

        Nontypeable Haemophilus influenzae (NTHi) is the most common bacterial otopathogen associated with otitis media (OM). NTHi persists in biofilms within the middle ears of children with chronic and recurrent OM. Australian Aboriginal children suffer exceptionally high rates of chronic and recurrent OM compared to non-Aboriginal children. ...

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