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Surgery for rheumatic heart disease in the Northern Territory, Australia, 1997-2016: what have we gained?Between 1964 and 1996, the 10-year survival of patients having valve replacement surgery for rheumatic heart disease (RHD) in the Northern Territory, Australia, was 68%. As medical care has evolved since then, this study aimed to determine whether there has been a corresponding improvement in survival.
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Individual-Level Risk and Resilience Factors Associated with Mental Health in Siblings of Individuals with Neurodevelopmental Conditions: A Network AnalysisSiblings of individuals with neurodevelopmental conditions (NDCs) are exposed to unique family environments and experience a range of psychosocial risk and resilience factors.
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Copy number variation in tRNA isodecoder genes impairs mammalian development and balanced translationThe number of tRNA isodecoders has increased dramatically in mammals, but the specific molecular and physiological reasons for this expansion remain elusive. To address this fundamental question we used CRISPR editing to knockout the seven-membered phenylalanine tRNA gene family in mice, both individually and combinatorially.
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Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease riskLung-function impairment underlies chronic obstructive pulmonary disease (COPD) and predicts mortality. In the largest multi-ancestry genome-wide association meta-analysis of lung function to date, comprising 580,869 participants, we identified 1,020 independent association signals implicating 559 genes supported by ≥2 criteria from a systematic variant-to-gene mapping framework. These genes were enriched in 29 pathways. Individual variants showed heterogeneity across ancestries, age and smoking groups, and collectively as a genetic risk score showed strong association with COPD across ancestry groups.
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Gene filtering strategies for machine learning guided biomarker discovery using neonatal sepsis RNA-seq dataMachine learning (ML) algorithms are powerful tools that are increasingly being used for sepsis biomarker discovery in RNA-Seq data. RNA-Seq datasets contain multiple sources and types of noise (operator, technical and non-systematic) that may bias ML classification. Normalisation and independent gene filtering approaches described in RNA-Seq workflows account for some of this variability and are typically only targeted at differential expression analysis rather than ML applications.
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Western Australia remote aeromedical substance use disorders outcomesSubstance use disorders (SUDs) cause significant harm to regional Australians, who are more likely to misuse alcohol and other drugs (AODs) and encounter difficulty in accessing treatment services. The primary aims of this study were to describe the demographics of patients aeromedically retrieved from regional locations and compare hospital outcomes with a metropolitan-based cohort.
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Gender-Neutral Toilets: A Qualitative Exploration of Inclusive School Environments for Sexuality and Gender Diverse Youth in Western AustraliaSchool toilets have been identified by sexuality and gender diverse (SGD) students as the least safe spaces in educational institutions. They are sites of verbal, physical and sexual victimisation.
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Risk factors for group A streptococcal pharyngitis and skin infections: A case control studyGroup A streptococcal (GAS) infections can trigger an immune-mediated response resulting in acute rheumatic fever. The role of social and environmental risk factors for GAS pharyngitis and skin infections are not well understood.
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Variants of Streptococcus pneumoniae Serotype 14 from Papua New Guinea with the Potential to Be Mistyped and Escape Vaccine-Induced ProtectionStreptococcus pneumoniae (the pneumococcus) is a human pathogen of global importance, classified into serotypes based on the type of capsular polysaccharide produced. Serotyping of pneumococci is essential for disease surveillance and vaccine impact measurement.
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Assessing the utility of routine viral surveillance performed in children undergoing autologous stem cell transplantation at a single centreWe assessed the utility of routine viral surveillance for cytomegalovirus, Epstein–Barr virus and human adenovirus in children <16 years, undergoing autologous stem cell transplantation (ASCT) at a single centre over a 10-year period. A total of 85 ASCT were performed in 65 patients.