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Associations between genotype, phenotype and behaviours measured by the Rett syndrome behaviour questionnaire in Rett syndromeRett syndrome (RTT) is a rare neurodevelopmental disorder with developmental impairments, comorbidities, and abnormal behaviours such as hand stereotypies and emotional features. The Rett Syndrome Behaviour Questionnaire (RSBQ) was developed to describe the behavioural and emotional features of RTT.
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Burden of illness in Rett syndrome: initial evaluation of a disorder-specific caregiver surveyRett syndrome (RTT) is a severe X-linked neurodevelopmental disorder associated with multiple neurologic impairments. Previous studies have shown challenges to the quality of life of individuals with RTT and their caregivers. However, instruments applied to quantify disease burden have not adequately captured the impact of these impairments on affected individuals and their families. Consequently, an international collaboration of stakeholders aimed at evaluating Burden of Illness in RTT was organized.
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Physical activity behaviors in trans and gender diverse adults: a scoping reviewThere is currently limited data regarding the physical activity behaviors of trans and gender diverse people (including binary and non-binary identities; henceforth trans). The aim of this review was to synthesize the existing literature in this area, with a focus on physical activity behaviors as they relate to health (e.g. health benefits, risks of adverse health outcomes).
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Autism likelihood in infants born to mothers with asthma is associated with blood inflammatory gene biomarkers in pregnancyMothers with asthma or atopy have a higher likelihood of having autistic children, with maternal immune activation in pregnancy implicated as a mechanism. This study aimed to determine, in a prospective cohort of mothers with asthma and their infants, whether inflammatory gene expression in pregnancy is associated with likelihood of future autism.
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Short-Term Active Safety Surveillance of the Spikevax and Nuvaxovid Priming Doses in AustraliaAustralia commenced administration of the Spikevax (Moderna mRNA-1273) COVID-19 vaccine in August 2021 and Nuvaxovid (Novavax NVX-CoV2373) in January 2022. This study describes the short-term safety profile of priming doses of the Spikevax and Nuvaxovid vaccines given between September 2021 and September 2023.
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Neighbourhood walkability and body mass index in children: Evidence from the Millennium Cohort Study in WalesOverweight and obesity in children continues to increase. Yet, the role of active transport, namely walking, in mitigating these trends remains unclear. This study examined the cross-sectional association between walkability and children's Body Mass Index (BMI) and how this varies by socio-economic and lifestyle characteristics.
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Phase 1 trial of an investigational Tdap booster vaccine with CpG 1018 adjuvant compared with Boostrix in healthy adults and adolescentsThis phase 1 trial assessed the safety and immunogenicity of an investigational tetanus/diphtheria/acellular pertussis vaccine combined with CpG 1018 adjuvant 1500 μg (Tdap-1018 1500 μg) or 3000 μg (Tdap-1018 3000 μg) in adults and adolescents.
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‘I leave most of the decisions up to her:’ Gendered parenting, un/equal decision work, and responsibility for COVID-19 vaccinationVaccination scholarship focuses on how privilege, individualized choice and ‘intensive’ and ‘natural’ parenthood – often motherhood – lead people to delay or not vaccinate their children. Recently, examining parents’ vaccination responsibilities – and the inequalities in paid employment and unpaid care work underpinning them – has become important to understand COVID-19.
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Feasibility and acceptability of implementing an evidence-based ESCALATION system for paediatric clinical deteriorationThe ESCALATION system is a novel paediatric Early Warning System that incorporates family involvement and sepsis recognition. This study aimed to assess the feasibility and iteratively refine the ESCALATION system in a variety of hospital settings in preparation for full-service implementation.
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Coupling of response biomarkers between tumor and peripheral blood in patients undergoing chemoimmunotherapyPlatinum-based chemotherapy in combination with anti-PD-L1 antibodies has shown promising results in mesothelioma. However, the immunological mechanisms underlying its efficacy are not well understood and there are no predictive biomarkers to guide treatment decisions.