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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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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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Rare case of spontaneous simultaneous extensive subcutaneous emphysema, bilateral pneumothoraces, pneumomediastinum and pneumorrhachisNick Gottardo MBChB FRACP PhD Head of Paediatric and Adolescent Oncology and Haematology, Perth Children’s Hospital; Co-head, Brain Tumour Research
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Rare cause of scalp swelling in an infantChristopher Blyth MBBS (Hons) DCH FRACP FRCPA PhD Centre Head, Wesfarmers Centre of Vaccines and Infectious Diseases; Co-Head, Infectious Diseases
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Acute hyperglycaemia does not have a consistent adverse effect on exercise performance in recreationally active young people with type 1 diabetes: a randomised crossover in-clinic studyIn individuals with type 1 diabetes, chronic hyperglycaemia impairs aerobic fitness. However, the effect of acute marked hyperglycaemia on aerobic fitness is unclear, and the impact of insulin level has not been examined. In this study, we explored if acute hyperglycaemia with higher or low insulin levels affects [Formula: see text] and other exercise performance indicators in individuals with type 1 diabetes.
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Less Nocturnal Hypoglycemia but Equivalent Time in Range among Adults with Type 1 Diabetes Using Insulin Pumps Versus Multiple Daily InjectionsThis prerandomization analysis from the Australian HCL-Adult trial (registration number: ACTRN12617000520336) compared masked continuous glucose monitoring (CGM) metrics among adults using insulin pumps versus multiple daily injections (MDIs), who were all self-monitoring blood glucose (SMBG).
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Formative evaluation of a community-based approach to reduce the incidence of Strep A infections and acute rheumatic feverWe explore the acceptability of a novel, outreached-based approach to improve primary and primordial prevention of Strep A skin sores, sore throats and acute rheumatic fever in remote Aboriginal communities. A comprehensive prevention program delivered by trained Aboriginal Community Workers was evaluated using approximately fortnightly household surveys about health and housing and clinical records.
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Alcohol-related harm in emergency departments: linking to subsequent hospitalizations to quantify under-reporting of presentationsAlcohol-related harm in emergency departments: linking to subsequent hospitalizations to quantify under-reporting of presentations.To quantify the proportion of emergency department (ED) presentations that could be identified as alcohol-related when linking to a patient's subsequent hospitalization, compared with using ED data alone, and to assess that comparison according to the change in alcohol harm rates over time and potential variations within subpopulations.
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Malignant Pleural Effusions—A Window Into Local Anti-Tumor T Cell Immunity?The success of immunotherapy that targets inhibitory T cell receptors for the treatment of multiple cancers has seen the anti-tumor immune response re-emerge as a promising biomarker of response to therapy. Longitudinal characterization of T cells in the tumor microenvironment (TME) helps us understand how to promote effective anti-tumor immunity. However, serial analyses at the tumor site are rarely feasible in clinical practice.