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Research
Deletions in the CDKL5 5 untranslated region lead to CDKL5 deficiency disorderPathogenic variants in the cyclin-dependent kinase-like 5 (CDKL5) gene are associated with CDKL5 deficiency disorder (CDD), a severe X-linked developmental and epileptic encephalopathy.
Research
Disruption of cotranscriptional splicing suggests that RBM39 is a therapeutic target in acute lymphoblastic leukemiaThere are few options for patients with relapse/refractory B-cell acute lymphoblastic leukemia, thus this is a major area of unmet medical need. Here, we reveal that inclusion of a poison exon in RBM39, which could be induced both by CDK9 or CDK9 independent CMGC (cyclin-dependent kinases, mitogen-activated protein kinases, glycogen synthase kinases, CDC-like kinases) kinase inhibition, is recognized by the nonsense-mediated mRNA decay pathway for degradation.
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Exploring Sugary Drink Consumption and Perceptions among Primary-School-Aged Children and Parents in AustraliaSugar-sweetened beverages (SSBs) account for a significant proportion of sugar in the diet of children and are directly associated with obesity in this group. While there have been many studies on adolescent SSB consumption, few studies have examined the predictors of SSB consumption in primary-school-aged children. The aim of this study was to understand the degree to which a child's consumption across a range of beverages is influenced by their own attitudes and by their parents' attitudes and parents' consumption behaviours.
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Outbreak investigation of norovirus gastroenteritis in a childcare facility in Central Queensland, Australia: a household level case series analysisNoroviruses are one of the most common causes of gastroenteritis in all age groups, including children. However, little has been reported on the transmission of norovirus within childcare facilities and the subsequent impact at the household level.
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Effect of a campaign with oral polio vaccine on general health: A cluster-randomised trial in rural Guinea-BissauObjectives: To investigate in a cluster-randomised trial whether a campaign with oral polio vaccine (C-OPV) reduced mortality and morbidity.
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Behavior Change Techniques Involved in Physical Activity Interventions for Children with Chronic Conditions: A Systematic ReviewBehavior change techniques (BCTs) have been extensively used in physical activity interventions for children, however, no systematic reviews have synthesized their effects.
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Influence of maternal and infant technology use and other family factors on infant developmentSteve Desiree Zubrick Silva FASSA, FAAMHS, MSc AM PhD MBBS, FRACP, MPH, PhD Honorary Emeritus Research Fellow Co-Director, ORIGINS 08 6319 1409
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A Small Device May Deliver King-Sized Solutions for Patients With an Exacerbation of Cystic FibrosisThe aim is to examine whether using a portable spring-infusor device to deliver antibiotics compared with a standard infusion pump (SIP) translated to (i) improve health outcomes, (ii) reduce the length of stay (LoS), and (iii) reduce cost for treatment of exacerbations of cystic fibrosis.
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Opportunities to strengthen respiratory virus surveillance systems in Australia: lessons learned from the COVID-19 responseDisease surveillance data was critical in supporting public health decisions throughout the coronavirus disease 2019 (COVID-19) pandemic. At the same time, the unprecedented circumstances of the pandemic revealed many shortcomings of surveillance systems for viral respiratory pathogens. Strengthening of surveillance systems was identified as a priority for the recently established Australian Centre for Disease Control, which represents a critical opportunity to review pre-pandemic and pandemic surveillance practices, and to decide on future priorities, during both pandemic and inter-pandemic periods.
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Preschool children’s physical activity in the home, childcare and neighbourhood environment: A latent profile analysis using device-based measuresBased on the socioecological conceptual model, the physical environment within the home, childcare and neighbourhood domains are key factors that influence preschool children's physical activity; however, the relative importance of each of these domains for preschool children's physical activity is unclear.