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Barriers and Considerations for Diagnosing Rare Diseases in Indigenous PopulationsAdvances in omics and specifically genomic technologies are increasingly transforming rare disease diagnosis. However, the benefits of these advances are disproportionately experienced within and between populations, with Indigenous populations frequently experiencing diagnostic and therapeutic inequities. The International Rare Disease Research Consortium (IRDiRC) multi-stakeholder partnership has been advancing toward the vision of all people living with a rare disease receiving an accurate diagnosis, care, and available therapy within 1 year of coming to medical attention. In order to further progress toward this vision, IRDiRC has created a taskforce to explore the access barriers to diagnosis of rare genetic diseases faced by Indigenous peoples, with a view of developing recommendations to overcome them.
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Sensitization to immune checkpoint blockade through activation of a STAT1/NK axis in the tumor microenvironmentOur results identify a pretreatment tumor microenvironment that predicts response to immune checkpoint blockade, which can be therapeutically attained
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Poverty, Parental Mental Health and Child/Adolescent Mental Disorders: Findings from a National Australian SurveyThe purpose of this study is to examine the association between poverty and child mental disorders
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Risk factors for symptomatic venous thromboembolism during therapy for childhood acute lymphoblastic leukemiaWe found two known risk factors in a large cohort of children treated for ALL and identified other factors associated with venous thromboembolism
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Validity of the Middle Years Development Instrument for Population Monitoring of Student Wellbeing in Australian School ChildrenThis paper reports on a five-year project to measure student wellbeing across an education system using the Middle Years Development Instrument
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Exposure to Solar UVR Suppresses Cell-Mediated Immunization Responses in Humans: The Australian Ultraviolet Radiation and Immunity StudyHigher UVR exposure at antigen sensitization was associated with a reduced delayed-type hypersensitivity response and altered T helper type 17 kinetics
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Overcrowded housing: One of a constellation of vulnerabilities for child sexual abuseThe findings suggest that overcrowded living conditions are associated with an increased risk of sexual abuse for some children
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Immunogenicity and Safety of a Quadrivalent Meningococcal ACWY-tetanus Toxoid Conjugate Vaccine 6 Years After MenC Priming as ToddlersOne dose of MenACWY-TT boosts protection against MenC in primed children, is safe and extends protection against MenA, MenW and MenY
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Gamifying Breastfeeding for Fathers: Process Evaluation of the Milk Man Mobile AppThe Milk Man app was an acceptable source of breastfeeding information and support that fathers and fathers-to-be are prepared to use throughout the perinatal period
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Acquired resistance during adoptive cell therapy by transcriptional silencing of immunogenic antigensThese findings suggest that tumor cells employ multiple epigenetic and genetic mechanisms to evade immune control