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Efficacy of DYRK1A inhibitors in novel models of Down syndrome acute lymphoblastic leukemiaDespite significant advances, outcomes for children with Down syndrome (DS, trisomy 21) who develop acute lymphoblastic leukemia remain poor. Reports of large DS-ALL cohorts have shown that children with DS have inferior event-free survival and overall survival compared to children without DS.
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qPCR assay optimisation for a clinical study comparing oral health risk in Rett syndromeThis study aimed to validate qPCR assays for specific microbiota, for use on dental plaque samples stored on Whatman FTA cards to compare relative oral health risk in Rett syndrome.
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Risk of otitis media in offspring following maternal prenatal stress exposureThere is limited but consistent evidence that suggests prenatal factors, including maternal stress, may contribute to susceptibility for otitis media. We aimed to determine the effect of multiple life stress events during pregnancy on risk of acute and recurrent otitis media in offspring at three and five years of age.
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Pandemic preparedness needs for children with rare diseases and their families: A perspective of COVID-19 experiencesPeople living with rare diseases had a high risk of negative health outcomes due to COVID-19. Pandemic preparedness will ensure best practice procedures and optimal outcomes during future pandemic events. This paper sought to understand the needs of children with rare diseases during the COVID-19 pandemic to inform preparation for future pandemic and disaster events. First, impacts and outcomes from the COVID-19 pandemic on people living with rare disease were identified in the literature.
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Unique architectural features of mammalian mitochondrial protein synthesisMitochondria rely on coordinated expression of their own mitochondrial DNA (mtDNA) with that of the nuclear genome for their biogenesis. The bacterial ancestry of mitochondria has given rise to unique and idiosyncratic features of the mtDNA and its expression machinery that can be specific to different organisms. In animals, the mitochondrial protein synthesis machinery has acquired many new components and mechanisms over evolution.
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Molecular analysis of human tick-bitten skin yields signatures associated with distinct spatial and temporal trajectories - A proof-of-concept studyTick-associated diseases present challenges due to tridirectional interactions among host-specific responses, tick toxins and salivary proteins as well as microbes. We aimed to uncover molecular mechanisms in tick-bitten skin samples and contralateral skin samples collected simultaneously from the same participants, using spatial transcriptomics.
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Prolonged Grief Disorder, but Not Death From COVID-19, Elicits Public Stigma: A Vignette-Based ExperimentWe investigated the effects of cause of death (COVID-19 with an underlying medical condition vs. without) and prolonged grief disorder status (PGD present or absent) on participants' reported public stigma towards the bereaved.
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Wastewater-based epidemiological surveillance of SARS-CoV-2 new variants BA.2.86 and offspring JN.1 in South and Southeast AsiaAnthony Kicic BSc (Hons) PhD Rothwell Family Fellow; Head, Airway Epithelial Research Anthony.Kicic@thekids.org.au Rothwell Family Fellow; Head,
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A systematic umbrella review and meta-meta-analysis of eHealth and mHealth interventions for improving lifestyle behavioursThe aim of this meta-meta-analysis was to systematically review randomised controlled trial evidence examining the effectiveness of e- and m-Health interventions designed to improve physical activity, sedentary behaviour, healthy eating and sleep. Nine electronic databases were searched for eligible studies published from inception to 1 June 2023.
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National pharmacovigilance of seasonal influenza vaccines in AustraliaCitation: O'Moore M, Jones B, Hickie M, …….. Marsh JA, Wood N. National pharmacovigilance of seasonal influenza vaccines in Australia. Med J Aust.