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The Vsr-like protein FASTKD4 regulates the stability and polyadenylation of the MT-ND3 mRNAExpression of the compact mitochondrial genome is regulated by nuclear encoded, mitochondrially localized RNA-binding proteins (RBPs). RBPs regulate the lifecycles of mitochondrial RNAs from transcription to degradation by mediating RNA processing, maturation, stability and translation. The Fas-activated serine/threonine kinase (FASTK) family of RBPs has been shown to regulate and fine-tune discrete aspects of mitochondrial gene expression.
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Perturbation of the T Cell Compartment Underlies Rheumatic Fever PathogenesisThis prospective cohort study, which recruited participants with definite ARF in Australia and Aotearoa New Zealand, profiled circulating immune molecules and cells to inform disease mechanisms and future druggable pathways.
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Maternal concentrations of perfluoroalkyl sulfonates and alterations in white matter microstructure in the developing brains of young childrenMaternal exposure to per- and polyfluoroalkyl substances (PFAS) has been linked to child neurodevelopmental difficulties. Neuroimaging research has linked these neurodevelopmental difficulties to white matter microstructure alterations, but the effects of PFAS on children's white matter microstructure remains unclear.
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Glycemic and Psychosocial Outcomes of Advanced Hybrid Closed-Loop Therapy in Youth With High HbA1c: A Randomized Clinical TrialTo determine the efficacy of advanced hybrid closed-loop therapy in a high-risk cohort of youth on continuous subcutaneous insulin infusion with or without continuous glucose monitoring with suboptimal glycemia.
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Neurodevelopmental impairment in children with Robin sequence: A systematic review and meta-analysisEstimate the global prevalence of neurodevelopmental impairment in children with Robin sequence (RS) at one year or more of age.
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Measuring the Burden of Epilepsy Hospitalizations in CDKL5 Deficiency DisorderInformation on the hospital service use among individuals with CDKL5 Deficiency Disorder, an ultrarare developmental epileptic encephalopathy, is limited, evidence of which could assist with service planning. Therefore, using baseline and longitudinal data on 379 genetically verified individuals in the International CDKL5 Disorder Database, we aimed to investigate rates of seizure-related and other hospitalizations and associated length of stay in this cohort.
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Assessing the Use and Acceptability of Virtual Reality to Assist Coping in Children Undergoing Clinical ProceduresVirtual reality is used as a distraction tool during medical procedures that can cause anxiety and pain. We assessed the usefulness, engagement, value and feasibility of virtual reality to help children cope with routine clinical procedures.
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Barriers and facilitators to mental health care access and engagement for LGBTQA+ people with psychosis: A scoping reviewLGBTQA+ individuals are at increased risk of experiencing psychosis and face barriers in accessing appropriate and timely mental health support. This scoping review maps the existing literature to identify barriers and facilitators to access and engagement to care for LGBTQA+ people across the psychosis spectrum.
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Which emerging autism features at 12 months of age are associated with later parent-child interaction?Parent-child interactions (PCI) in infants with an elevated likelihood (EL) of autism start to diverge from other infants toward the end of the first year. This divergence is often attributed to emerging features of autism impacting infant social interactions in ways that become increasingly amplified. The aim was to identify which, if any, 12-month autism features were associated with later PCI qualities.
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Profiling epithelial viral receptor expression in amniotic membrane and nasal epithelial cells at birthChildren with wheeze and asthma present with airway epithelial vulnerabilities, such as impaired responses to viral infection. It is postulated that the in utero environment may contribute to the development of airway epithelial vulnerabilities.