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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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Peri-operative steroid management in the paediatric populationPatients with adrenal insufficiency are at risk of adrenal crisis, a potentially life-threatening emergency in the peri-operative period due to their attenuated ability to mount a cortisol response.
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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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Supporting patient-clinician interaction in chronic HIV care: Design and development of a patient-reported outcomes software applicationThe consideration of health-related quality of life (HRQL) is a hallmark of best practice in HIV care. Information technology offers an opportunity to more closely engage patients with chronic HIV infection in their long-term management and support a focus on HRQL.
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The pharmacokinetic properties of artemether and lumefantrine in Malaysian patients with Plasmodium knowlesi malariaThe aim of this study was to assess the pharmacokinetic properties of artemether, lumefantrine and their active metabolites in Plasmodium knowlesi malaria.
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Content Validation of Clinician-Reported Items for a Severity Measure for CDKL5 Deficiency DisorderCDKL5 deficiency disorder (CDD) results in early-onset seizures and severe developmental impairments. A CDD clinical severity assessment (CCSA) was previously developed with clinician and parent-report items to capture information on a range of domains.
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Mapping the landscape of chromatin dynamics during naïve CD4+ T-cell activationT-cell activation induces context-specific gene expression programs that promote energy generation and biosynthesis, progression through the cell cycle and ultimately cell differentiation. The aim of this study was to apply the omni ATAC-seq method to characterize the landscape of chromatin changes induced by T-cell activation in mature naïve CD4+ T-cells.
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Variation in treatment preferences of pulmonary exacerbations among Australian and New Zealand cystic fibrosis physiciansDespite advances in cystic fibrosis (CF) management and survival, the optimal treatment of pulmonary exacerbations remains unclear. Understanding the variability in treatment approaches among physicians might help prioritise clinical uncertainties to address through clinical trials.
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The mitochondrial single-stranded DNA binding protein is essential for initiation of mtDNA replicationWe report a role for the mitochondrial single-stranded DNA binding protein (mtSSB) in regulating mitochondrial DNA (mtDNA) replication initiation in mammalian mitochondria. Transcription from the light-strand promoter (LSP) is required both for gene expression and for generating the RNA primers needed for initiation of mtDNA synthesis.
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Childhood vaccination coverage in Australia: an equity perspectiveThis study describes trends in social inequities in first dose measles-mumps-rubella (MMR1) vaccination coverage in Western Australia (WA) and New South Wales (NSW).