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Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic DataExpanded carrier screening (ECS) for recessive monogenic diseases requires prior knowledge of genomic variation, including DNA variants that cause disease. The composition of pathogenic variants differs greatly among human populations, but historically, research about monogenic diseases has focused mainly on people with European ancestry. By comparison, less is known about pathogenic DNA variants in people from other pa
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Systematic assessment of tissue dissociation and storage biases in single-cell and single-nucleus RNA-seq workflowsSystematic comparison of recovered cell types and their transcriptional profiles across the workflows has highlighted protocol-specific biase
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COPD-related modification to the airway epithelium permits intracellular residence of nontypeable haemophilus influenzaeOur findings indicate that COPD, cigarette smoke and macrolide antibiotics potentiate the susceptibility to persistent intracellular NTHi
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Durvalumab with first-line chemotherapy in previously untreated malignant pleural mesothelioma (DREAM): a multicentre, single-arm, phase 2 trial with a safety run-inThere is a strong unmet need to improve systemic therapy in mesothelioma. Chemotherapy with cisplatin and pemetrexed improves survival in malignant pleural mesothelioma, and immune checkpoint inhibitors are an emerging treatment in this disease. We aimed to evaluate the activity of durvalumab, an anti-PD-L1 antibody, given during and after first-line chemotherapy with cisplatin and pemetrexed in patients with advanced malignant pleural mesothelioma.
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Quality of life is poorly correlated to lung disease severity in school-aged children with cystic fibrosisThere is no data exclusively on the relationship between health-related quality-of-life (HRQOL) and lung disease severity in early school-aged children with cystic fibrosis (CF). Using data from the Australian Respiratory Early Surveillance Team for Cystic Fibrosis (AREST CF) we assessed the relationships between HRQOL, lung function and structure.
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Optimal interpregnancy interval in autism spectrum disorder: A multi-national study of a modifiable risk factorIt is biologically plausible that risk of autism spectrum disorder (ASD) is elevated by both short and long interpregnancy intervals (IPI). We conducted a retrospective cohort study of singleton, non-nulliparous live births.
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More than half of front-line healthcare workers unknowingly used an N95/P2 mask without adequate airborne protection: An audit in a tertiary institutionFront-line staff routinely exposed to aerosol-generating procedures are at a particularly high risk of transmission of severe acute respiratory syndrome coronavirus. We aimed to assess the adequacy of respiratory protection provided by available N95/P2 masks to staff routinely exposed to aerosol-generating procedures.
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Adverse Childhood Experiences, Associated Stressors and Comorbidities in Children and Youth with Fetal Alcohol Spectrum Disorder across the Child Protection and Justice Settings in Western AustraliaIndividuals with Fetal Alcohol Spectrum Disorder (FASD) are at risk of having adverse childhood experiences (ACEs), especially those with child protection or justice system involvement. The complex relationship between FASD and psychosocial vulnerabilities in the affected individual is an important clinical risk factor for comorbidity.
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Variation in Neonatal Nutrition Practice and Implications: A Survey of Australia and New Zealand Neonatal UnitsSignificant global variation exists in neonatal nutrition practice, including in assigned milk composition values, donor milk usage, fortification regimens, probiotic choice and in methods used to calculate and report nutrition and growth outcomes, making it difficult to synthesize data to inform evidence-based, standardized nutritional care that has potential to improve neonatal outcomes
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Optimization of blood handling and peripheral blood mononuclear cell cryopreservation of low cell number samplesRural/remote blood collection can cause delays in processing, reducing PBMC number, viability, cell composition and function. To mitigate these impacts, blood was stored at 4◦ C prior to processing. Viable cell number, viability, immune phenotype, and Interferon-γ (IFN-γ) release were measured.