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A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discoveryThe Global Alliance for Genomics and Health (GA4GH) Phenopacket Schema was released in 2022 and approved by ISO as a standard for sharing clinical and genomic information about an individual, including phenotypic descriptions, numerical measurements, genetic information, diagnoses, and treatments. A phenopacket can be used as an input file for software that supports phenotype-driven genomic diagnostics and for algorithms that facilitate patient classification and stratification for identifying new diseases and treatments.
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A Lifeline to Fill the Silence of Homelessness: Person-Centered Analysis of Digital Coping and Links to Mental and Physical HealthIndividuals experiencing homelessness are among the most vulnerable population for mental and physical health disparities. Despite navigating numerous stressors on a day-to-day basis, they are vastly underrepresented within coping research. Using a person-centered approach, this study addresses ways in which technology is leveraged to manage ongoing stressors associated with the experience of homelessness.
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Environmental impact of inhaled medicines: A Thoracic Society of Australia and New Zealand position statementGlobally, more than 1.2 billion inhalers are purchased for asthma and chronic obstructive pulmonary disease (COPD) annually. In Australia and New Zealand, pressurized metered dose inhalers (pMDIs) are the leading delivery device prescribed and pMDI salbutamol can be purchased over the counter in Australia. These inhalers are a major contributor to healthcare related greenhouse gases.
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Results of an Australian trial of an automated insulin delivery (AID) system and other studies support likely benefit of AID use for many Australian adults with type 1 diabetesLess than 20% of Australians with type 1 diabetes (T1D) meet recommended glucose targets. Technology use is associated with better glycaemia, with the most advanced being automated insulin delivery (AID) systems, which are now recommended as gold-standard T1D care. Our Australian AID trial shows a wide spectrum of adults with T1D can achieve recommended targets. Other studies, including lived experience data, are supportive. Insulin pumps are not subsidised for most Australian adults with T1D. We advocate change.
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Examining Changes in Implementation of Priority Healthy Eating and Physical Activity Practices, and Related Barriers, Over Time in Australian Early Childhood Education and Care ServicesPromoting healthy eating and physical activity in early childhood education and care is recommended within guidelines and supported by health promotion programs; however, implementation is suboptimal. Evidence suggests implementation within the sector varies over time; however, this has not been empirically examined in relation to implementation barriers.
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Mining single-cell data for cell type-disease associationsA robust understanding of the cellular mechanisms underlying diseases sets the foundation for the effective design of drugs and other interventions. The wealth of existing single-cell atlases offers the opportunity to uncover high-resolution information on expression patterns across various cell types and
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Phage cocktail amikacin combination as a potential therapy for bacteremia associated with carbapenemase producing colistin resistant Klebsiella pneumoniaeThe increasing occurrence of hospital-associated infections, particularly bacteremia, caused by extensively drug-resistant (XDR) carbapenemase-producing colistin-resistant Klebsiella pneumoniae highlights a critical requirement to discover new therapeutic alternatives. Bacteriophages having host-specific bacteriolytic effects are promising alternatives for combating these pathogens.
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Are assisted reproductive technology pregnancies more likely to be exposed to teratogenic medication? A whole-population studyAssisted reproductive technology (ART) pregnancies are at greater risk of birth defects than non-ART pregnancies. Teratogenic medication exposure is a potential cause of birth defects that has not been compared between ART and non-ART pregnancies.
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The Feasibility of Personalized Endpoints in Assessing Treatment Outcomes for Rare Diseases: A Pilot Study of Goal Attainment Scaling in SCN2A-AssociatedFor individuals living with rare neurodevelopmental disorders, particularly those who are at the most severe end of the spectrum, standardized outcome measures may lack the sensitivity to capture small but meaningful changes.
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Compatibility of pentoxifylline injection with syringe and inline filtersTobias Strunk MD, PhD, FRACP Head, Neonatal Health tobias.strunk@thekids.org.au Head, Neonatal Health Clinical Professor Tobias Strunk is a