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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.
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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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Communication of individuals with CDKL5 deficiency disorder as observed by caregivers: A descriptive qualitative studyCDKL5 deficiency disorder (CDD) is a genetically caused developmental epileptic encephalopathy that causes severe communication impairments. Communication of individuals with CDD is not well understood in the literature and currently available measures are not well validated in this population. Accurate and sensitive measurement of the communication of individuals with CDD is important for understanding this condition, clinical practice, and upcoming interventional trials.
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A hospital-based asynchronous ENT telehealth service for children with otitis media: Cost-minimisation and improved accessThe purpose of this study is to explore the effectiveness of a hospital-based asynchronous ear, nose, and throat telehealth service (the Ear Portal) in reducing cost and improving access for children with otitis media.
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Genome-Wide Analyses of Vocabulary Size in Infancy and Toddlerhood: Associations With Attention-Deficit/Hyperactivity Disorder, Literacy, and Cognition-Related TraitsThe number of words children produce (expressive vocabulary) and understand (receptive vocabulary) changes rapidly during early development, partially due to genetic factors. Here, we performed a meta-genome-wide association study of vocabulary acquisition and investigated polygenic overlap with literacy, cognition, developmental phenotypes, and neurodevelopmental conditions, including attention-deficit/hyperactivity disorder.
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Interpregnancy interval and adverse birth outcomes: a population-based cohort study of twinsTo investigate associations between interpregnancy intervals (IPIs) and adverse birth outcomes in twin pregnancies.
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The collaboration on social science and immunisation (COSSI): Global lessons from a successful Australian research and practice networkSamantha Carlson BSc MPH PhD Senior Research Officer Samantha.carlson@thekids.org.au Senior Research Officer @samicarlson ORCID Dr Carlson is an