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Barriers and Considerations for Diagnosing Rare Diseases in Indigenous PopulationsAdvances in omics and specifically genomic technologies are increasingly transforming rare disease diagnosis. However, the benefits of these advances are disproportionately experienced within and between populations, with Indigenous populations frequently experiencing diagnostic and therapeutic inequities. The International Rare Disease Research Consortium (IRDiRC) multi-stakeholder partnership has been advancing toward the vision of all people living with a rare disease receiving an accurate diagnosis, care, and available therapy within 1 year of coming to medical attention. In order to further progress toward this vision, IRDiRC has created a taskforce to explore the access barriers to diagnosis of rare genetic diseases faced by Indigenous peoples, with a view of developing recommendations to overcome them.
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Evaluation of a public education campaign to support parents to reduce adolescent alcohol useThe Parents, Young People and Alcohol campaign achieved high awareness and positively influenced parental outcomes
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Correlation of ultra-low dose chest CT findings with physiologic measures of asbestosisThis study aimed to determine the relationship between ULDCT-ILD and measures of pulmonary function in an asbestos-exposed population.
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Use of the Dietary Guideline Index to assess cardiometabolic risk in adolescentsThe long-term adherence to the dietary guidelines has not been evaluated against emergence of cardiometabolic risks in adolescents with increasing rates of...
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A screening tool to identify risk for bronchiectasis progression in children with cystic fibrosisThe marked heterogeneity in cystic fibrosis (CF) disease complicates the selection of those most likely to benefit from existing or emergent treatments. We aimed to predict the progression of bronchiectasis in preschool children with CF.
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The Development and Feasibility of a Manualised Therapeutic Playgroup for Children with Developmental DelayPlaygroups are widely used throughout the Australian community yet understanding of their efficacy is hindered by inconsistent playgroup definitions and practice principles. This study aimed to develop, implement and evaluate the feasibility of a manualised therapeutic playgroup for children with developmental delay and their families using a three step process.
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Sexualized Images on Social Media and Adolescent Girls’ Mental Health: Qualitative Insights from Parents, School Support Service Staff and Youth Mental Health Service ProvidersThis research explored adults' perceptions of how sexualized images typically found on social media might influence adolescent girls' mental health, what support girls might need should they experience mental health difficulties, and how such difficulties could be prevented or reduced.
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Respiratory Health Inequities among Children and Young Adults with Cerebral Palsy in Aotearoa New Zealand: A Data Linkage StudyRespiratory disease is a leading cause of morbidity, mortality, and poor quality of life in children with cerebral palsy (CP). This study describes the prevalence of CP-related respiratory disease and the non-modifiable risk factors for respiratory-related hospital admissions in the Aotearoa New Zealand population.
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Approaches to prioritising research for clinical trial networks: a scoping reviewPrioritisation of clinical trials ensures that the research conducted meets the needs of stakeholders, makes the best use of resources and avoids duplication. The aim of this review was to identify and critically appraise approaches to research prioritisation applicable to clinical trials, to inform best practice guidelines for clinical trial networks and funders.
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International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency DisorderCDKL5 Deficiency Disorder (CDD) is a rare, X-linked dominant condition that causes a developmental and epileptic encephalopathy (DEE). The incidence is between ~ 1:40,000 and 1:60,000 live births. Pathogenic variants in CDKL5 lead to seizures from infancy and severe neurodevelopmental delay.