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        Research

        The bone marrow microenvironment of pre-B acute lymphoblastic leukemia at single-cell resolution

        The bone marrow microenvironment (BMM) plays a key role in leukemia progression, but its molecular complexity in pre-B cell acute lymphoblastic leukemia (B-ALL), the most common cancer in children, remains poorly understood. To gain further insight, we used single-cell RNA sequencing to characterize the kinetics of the murine BMM during B-ALL progression. ...

        Research

        Systems Biology Methods Applied to Blood and Tissue for a Comprehensive Analysis of Immune Response to Hepatitis B Vaccine in Adults

        Conventional vaccine design has been based on trial-and-error approaches, which have been generally successful. However, there have been some major failures in vaccine development and we still do not have highly effective licensed vaccines for tuberculosis, HIV, respiratory syncytial virus, and other major infections of global significance. Approaches at rational vaccine design have been limited by our understanding of the immune response to vaccination at the molecular level. Tools now exist to undertake in-depth analysis using systems biology approaches, but to be fully realized, studies are required in humans with intensive blood and tissue sampling. ...

        Research

        Performance and Practicality of a Rapid Molecular Test for the Diagnosis of Strep A Pharyngitis in a Remote Australian Setting

        Over 5 days, 120 schoolchildren from two schools in the remote Kimberley region of Australia were screened for Strep A pharyngitis. Molecular point-of-care testing identified Strep A pharyngitis in 13/18 (72.2%) symptomatic children. The portability and feasibility of molecular point-of-care testing was highly practical for remote settings. ...

        Research

        A flexible computational pipeline for research analyses of unsolved clinical exome cases

        Exome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25-30%. Here we develop a robust computational pipeline to rank variants for reassessment of unsolved rare disease patients. A comprehensive web-based patient report is generated in which all deleterious variants can be filtered by gene, variant characteristics, OMIM disease and Phenolyzer scores, and all are annotated with an ACMG classification and links to ClinVar. ...

        Research

        Options and realities for trans and gender diverse young people receiving care in Australia's mental health system: findings from Trans Pathways

        Trans and gender diverse young people experience mental health difficulties self-harm and suicidality at markedly higher rates than the general population, yet they often feel isolated from mental health services. There is little qualitative research on the experiences of trans and gender diverse young people accessing mental health support in Australia. ...

        Research

        An observational study of the reactogenicity and immunogenicity of 13-valent pneumococcal conjugate vaccine in women of childbearing age in Papua New Guinea

        Maternal immunization with pneumococcal conjugate vaccine (PCV) may protect young infants in high-risk settings against the high risk of pneumococcal infections in early life. The aim of this study was to determine the safety and immunogenicity of 13-valent PCV (PCV13) in healthy women of childbearing age in PNG. ...

        Research

        ‘We do what we can as soon as we can’ Alcohol and Other Drug workforce perspectives on preventing and responding to prenatal alcohol exposure

        Evidence based strategies are needed to enhance the ability of the Alcohol and Other Drugs (AOD) sector to prevent prenatal alcohol exposure (PAE) and harms including Fetal Alcohol Spectrum Disorder (FASD). In Australia FASD prevention research has largely focused on primary care and child development sectors, while little research has been conducted with AOD services providing comprehensive support to high risk women. ...

        Research

        Respiratory outcomes among refinery workers exposed to inspirable alumina dust: A longitudinal study in Western Australia

        Information is scarce about the occupational health effects of exposure to alumina dust. This study examines the respiratory effects of inspirable alumina dust exposure in alumina refineries. ...

        Research

        Longitudinal effects of caregiving on parental well-being: the example of Rett syndrome, a severe neurological disorder

        Our findings suggest that some opportunities do exist for clinicians to help optimise parental well-being ...

        Research

        Association between psychotic experiences and non-accidental self-injury: results from a nationally representative survey of adolescents

        Adolescents reporting any sychotic experiences in the past 12 months reported increased likelihood of non-accidental self-injury in the same time period ...

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