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This 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.
Information 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.
To 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.
Virtual 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.
Expression 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.
Estimate the global prevalence of neurodevelopmental impairment in children with Robin sequence (RS) at one year or more of age.
Maternal 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.
To assess relationships between continuous glucose monitoring (CGM) time in range (TIR), 70-180 mg/dL, time below range (TBR), <70 mg/dL, time above range (TAR), >180 mg/dL, and glucose coefficient of variation (CV) in relation to currently recommended clinical CGM targets for older people, which recommend reduced TIR and TBR targets relative to the general type 1 diabetes population.
Sébastien Malinge PhD Laboratory Head, Translational Genomics in Leukaemia, Senior Research Fellow (University of Western Australia), Adjunct Senior
High quality intervention research is needed to inform evidence-based practice and policy for Aboriginal and Torres Strait Islander communities. We searched for studies published from 2008-2020 in the PubMed database. A narrative review of intervention literature was conducted, where we identified researcher reported strengths and limitations of their research practice.