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Building the Future Therapies for Down Syndrome: The Third International Conference of the T21 Research SocietyResearch focused on Down syndrome has increased in the last several years to advance understanding of the consequences of trisomy 21 (T21) on molecular and cellular processes and, ultimately, on individuals with Down syndrome. The Trisomy 21 Research Society (T21RS) is the premier scientific organization for researchers and clinicians studying Down syndrome.
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Early school suspensions for children with adverse childhood experiences (ACEs)Children with adverse childhood experiences (ACEs) can have difficulty adapting to the school context and may therefore be more likely to be suspended. We examined the association between ACEs and suspensions using linked administrative data on children born in Western Australia from July 2003–June 2004.
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Impact of Hybrid Closed Loop Therapy on Hypoglycemia Awareness in Individuals with Type 1 Diabetes and Impaired Hypoglycemia AwarenessThis study evaluated the efficacy of using a hybrid closed loop system in restoring hypoglycemia awareness in individuals with impaired awareness of hypoglycemia. Participants with IAH (Gold score ≥4) were recruited into a randomized crossover pilot study.
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The prevalence of tuberculosis, malaria and soil-transmitted helminth infection in minority indigenous people of Southeast Asia and the Western Pacific: protocol for a systematic review and meta-analysisInfectious diseases such as tuberculosis (TB), malaria and soil-transmitted helminthiasis continue to impose a significant global health burden and socio-economic impact. Globally, minority indigenous people are disproportionately affected by poverty and are shown to experience a disparate burden of disease and poorer health outcomes than the comparative majority population.
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Perspectives of trans and gender diverse young people accessing primary care and gender-affirming medical services: Findings from Trans PathwaysIncreasing numbers of trans young people are seeking medical services worldwide, but there have been few qualitative investigations of the experiences of trans young people attempting to engage with these services to explore in-depth experiences of clinical interactions.
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Ethics and equity in rare disease research and healthcareRapid advances in next-generation sequencing technology, particularly whole exome sequencing and whole genome sequencing, have greatly affected our understanding of genetic variation underlying rare genetic diseases. Herein, we describe ethical principles of guiding consent and sharing of genomics research data. We also discuss ethical dilemmas in rare diseases research and patient recruitment policies and address bioethical and societal aspects influencing the ethical framework for genetic testing.
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Progress towards a coordinated, national paediatric antimicrobial resistance surveillance programmeThese data support that children are not just 'little adults' in the AMR era, and analyses by age group are important to detect differences in antibiotic susceptibility
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Ending rheumatic heart disease in Australia: the evidence for a new approachThe RHD Endgame Strategy: the blueprint to eliminate rheumatic heart disease in Australia by 2031 (the Endgame Strategy) is the blueprint to eliminate rheumatic heart disease (RHD) in Australia by 2031. Aboriginal and Torres Strait Islander people live with one of the highest per capita burdens of RHD in the world.
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Personalised analytics for rare disease diagnosticsHere we focus on the problem of prioritising variants with respect to the observed disease phenotype
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The ORVAC trial: A clinical trial of a third scheduled dose of Rotarix rotavirus vaccine in Australian Indigenous infants to improve protection against gastroenteritisWe hypothesised that scheduling an additional (third) dose of oral human rotavirus vaccine for children aged 6 to <12 months would improve protection