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The Human Phenotype Ontology in 2021The Human Phenotype Ontology was launched in 2008 to provide a comprehensive logical standard to describe and computationally analyze phenotypic abnormalities found in human disease. The HPO is now a worldwide standard for phenotype exchange. The HPO has grown steadily since its inception due to considerable contributions from clinical experts and researchers from a diverse range of disciplines. Here, we present recent major extensions of the HPO for neurology, nephrology, immunology, pulmonology, newborn screening, and other areas.
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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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Minimal structural lung disease in early life represents significant pathologyIn this cohort, as compared with the AREST CF cohort, the authors highlight the limited correlation between infection and inflammation with lung function and structural impairment, and that this was mainly explained by the mild changes identified in lung function and on chest CT scan.
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Financial Interventions to Increase Vaccine CoverageRecent vaccine mandates in Australia, as in other high income settings, have sought to change the behavior of parents, including those who would otherwise access nonmedical exemptions. Since 2014, Australian state governments have introduced and progressively tightened policies restricting the access of unvaccinated children to early education and child care.
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Active Case Finding for Rheumatic Fever in an Endemic CountryAsha Jonathan Bowen Carapetis AM BA MBBS DCH FRACP PhD GAICD FAHMS OAM AM MBBS FRACP FAFPHM PhD FAHMS Head, Healthy Skin and ARF Prevention Executive
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Healthy skin for children and young people with skin of colour starts with clinician knowledge and recognition: a narrative reviewSkin conditions most frequently encountered in paediatric practice include infections, infestations, atopic dermatitis, and acne. Skin of colour refers to skin with increased melanin and darker pigmentation, and reflects global racial and ethnic diversity. Managing skin conditions in skin of colour requires health equity nuance, which is rarely explicitly taught.
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Diverse diagnostic and management approaches for acute rheumatic fever in Australia and New Zealand: findings of a prospective clinical studyThis study provides new knowledge on ARF characteristics and management and highlights international variation in diagnostic and management practice.
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Mapping residual malaria transmission in VietnamVietnam, as one of the countries in the Greater Mekong Subregion, has committed to eliminating all malaria by 2030. Declining case numbers highlight the country's progress, but challenges including imported cases and pockets of residual transmission remain. To successfully eliminate malaria and to prevent reintroduction of malaria transmission, geostatistical modelling of vulnerability (importation rate) and receptivity (quantified by the reproduction number) of malaria is critical.
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Quantifying the impact of contact tracing interview prioritisation strategies on disease transmission: A modelling studyContact tracing is an important public health measure used to reduce transmission of infectious diseases. Contact tracers typically conduct telephone interviews with cases to identify contacts and direct them to quarantine, with the aim of preventing onward transmission. However, in situations where caseloads exceed the capacity of the public health system, timely interviews may not be feasible for all cases. Here we present a modelling framework for assessing the impact of different case interview prioritisation strategies on disease transmission.
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The National Paediatric Applied Research Translation Initiative (N-PARTI): using implementation science to improve primary care for Australian children with asthma, type 1 diabetesGeneral practice-based care for Australian children is facing low levels of clinical guideline adherence particularly in three key areas: asthma, type 1 diabetes and antibiotic use. We offer an implementation science-informed position paper, providing a broad overview of how we aim to address this issue.