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A Pilot Study Delivering Physiotherapy Support for Rett Syndrome Using a Telehealth Framework Suitable for COVID-19 LockdownRett syndrome (RTT) is a genetically caused neurodevelopmental disorder associated with severe disability. We assessed the feasibility of a telehealth program supporting gross motor skills in RTT. Five girls with RTT were assessed and a home-based exercise program developed in response to functional goals. Families then participated in monthly Skype sessions for 6 months, guided by a physiotherapist to monitor progress and adjust the program as necessary.
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Epigenome-Wide Association Study of Thyroid Function Traits Identifies Novel Associations of fT3 With KLF9 and DOT1LThe aim is to identify novel associations between fT3, fT4, and TSH and differentially methylated positions (DMPs) in the genome in subjects from 2 Australian cohorts. We performed an epigenome-wide association study (EWAS) of thyroid function parameters and DNAm using participants from Brisbane Systems Genetics Study and the Raine Study.
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Time to get serious about the detection and monitoring of early lung disease in cystic fibrosisStructural and functional defects within the lungs of children with cystic fibrosis (CF) are detectable soon after birth and progress throughout preschool years often without overt clinical signs or symptoms. By school age, most children have structural changes such as bronchiectasis or gas trapping/hypoperfusion and lung function abnormalities that persist into later life. Despite improved survival, gains in forced expiratory volume in one second (FEV1) achieved across successive birth cohorts during childhood have plateaued, and rates of FEV1 decline in adolescence and adulthood have not slowed. This suggests that interventions aimed at preventing lung disease should be targeted to mild disease and commence in early life.
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"This is my boy's health! Talk straight to me!" perspectives on accessible and culturally safe care among Aboriginal and Torres Strait Islander patients of clinical genetics servicesAboriginal and Torres Strait Islander people do not enjoy equal access to specialist health services that adequately meet their needs. Clinical genetics services are at the vanguard of realising the health benefits of genomic medicine. As the field continues to expand in clinical utility and implementation, it is critical that Aboriginal and Torres Strait Islander people are able to participate and benefit equally to avoid further widening of the existing health gap. This is the first study to explore barriers to accessing clinical genetics services among Aboriginal and Torres Strait Islander people, which has been acknowledged as a key strategic priority in Australian genomic health policy.
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3-Dimensional Virtual Reality Versus 2-Dimensional Video for Distraction during the Induction of Anesthesia in Children to Reduce Anxiety: A Randomized Controlled TrialPreoperative anxiety is common in children. It can contribute to negative experiences with anesthetic induction and may cause adverse physiological and psychological effects. Virtual reality (VR) and electronic tablet devices are 2 audiovisual distraction tools that may help to reduce anxiety and enhance the preoperative experience. This study aimed to compare the use of an immersive 3-dimensional (3D) VR to 2-dimensional (2D) video on anxiety in children during induction of general anesthesia.
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Population-referenced percentiles for total movement and energetic play at early childhood education and careChildcare services such as preschools and long day care centres have been identified as a key setting to promote physical activity in early childhood as they provide access to large numbers of children for prolonged periods. Yet, specific standards for the type and amount of physical activity children accumulate whilst attending childcare are lacking. The purpose of this study was to derive population-referenced percentile values for children's total movement and energetic play whilst attending early childhood education and care services.
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EphA3-targeted chimeric antigen receptor T cells are effective in glioma and generate curative memory T cell responsesHigh-grade gliomas including glioblastoma (GBM) and diffuse midline gliomas (DMG) represent the most lethal and aggressive brain cancers where current treatment modalities offer limited efficacy. Chimeric antigen receptor (CAR) T cell therapies have emerged as a promising strategy, boasting tumor-specific targeting and the unique ability to penetrate the blood-brain barrier.
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Can flash glucose monitoring improve glucose management for Aboriginal and Torres Strait Islander peoples with type 2 diabetes? A protocol for a randomised controlled trialAboriginal and Torres Strait Islander peoples are disproportionately impacted by type 2 diabetes. Continuous glucose monitoring technology (such as Abbott Freestyle Libre 2, previously referred to as Flash Glucose Monitoring) offers real-time glucose monitoring that is convenient and easy to use compared to self-monitoring of blood glucose.
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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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A newborn's perspective on immune responses to foodIn this review, we will highlight infants' immune responses to food, emphasizing the unique aspects of early-life immunity and the critical role of breast milk as a food dedicated to infants. Infants are susceptible to inflammatory responses rather than immune tolerance at the mucosal and skin barriers, necessitating strategies to promote oral tolerance that consider this susceptibility.