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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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Case report: congenital intraventricular meningioma demonstrated with fetal MRICongenital intracranial meningiomas are rare lesions. We present a case of congenital intraventricular cystic meningioma, initially characterized with fetal MRI and confirmed postnatally with histopathology. To our knowledge, this is the first in vivo description of a congenital meningioma with fetal MRI. The fetal MRI was able to characterize the lesion as an atypical intraventricular mass which was separate from the choroid plexus, differentiating the mass from a choroid plexus neoplasm.
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Measuring skeletal muscle morphology and architecture with imaging modalities in children with cerebral palsy: a scoping reviewTo investigate the use of ultrasound and magnetic resonance imaging (MRI) methodologies to assess muscle morphology and architecture in children with cerebral palsy (CP).
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Improving equity through school leadership and student wellbeing. 2021. ACEL Monograph #61 - ‘The William Walker Oration 2021Citation: Cross D. Improving equity through school leadership and student wellbeing. 2021. ACEL Monograph #61 - ‘The William Walker Oration 2021.
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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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The incidence of sore throat and group A streptococcal pharyngitis in children at high risk of developing acute rheumatic fever: A systematic review and meta-analysisGroup A streptococcal (GAS) pharyngitis has traditionally been considered the sole precursor of acute rheumatic fever (ARF). Evidence from Australia, however, suggests that GAS skin infections may contribute to the pathogenesis of ARF.
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The high prevalence and impact of rheumatic heart disease in pregnancy in First Nations populations in a high-income setting: a prospective cohort studyRheumatic heart disease in pregnancy persists in First Nations people in Australia and New Zealand and is associated with major cardiac and perinatal morbidity
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Predicting long term lung health outcomes in young adults born very preterm (WALHIP 19 year old follow-up)This study will conduct a detailed lung health assessment in a follow-up of a group of preterm individuals at 19 years of age.
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Preparing for prevention: Assessing the community awareness of RSV and other childhood infectionsRespiratory Syncytial Virus (RSV) is one of the most common reasons babies are admitted to hospital – with Aboriginal and preterm infants at greatest risk.