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Novel coenzyme Q6 genetic variant increases susceptibility to pneumococcal diseaseAcute lower respiratory tract infection (ALRI) remains a major worldwide cause of childhood mortality, compelling innovation in prevention and treatment. Children in Papua New Guinea (PNG) experience profound morbidity from ALRI caused by Streptococcus pneumoniae. As a result of evolutionary divergence, the human PNG population exhibits profound genetic variation and diversity. To address unmet health needs of children in PNG, we tested whether genetic variants increased ALRI morbidity.
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KMT2A-rearranged acute lymphoblastic leukaemiaKMT2A-rearranged acute lymphoblastic leukaemia (ALL) represents a high risk subtype of childhood ALL. Historical treatment strategies have comprised of intensification with conventional chemotherapy. However, outcomes have remained consistently poor compared to the advances that have been seen for other ALL subtypes, particularly for infants diagnosed before their first birthday
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Patient-related factors impact the implementation of inpatient antibiotic allergy delabelingThe clinical consequences of an antibiotic allergy label are detrimental, impacting health care delivery and patient outcomes. We assessed hospital inpatients with intent to offer free antibiotic allergy labeling assessment within a randomized controlled trial. We sought to determine the feasibility of establishing an adult antibiotic allergy delabeling service in a Western Australian tertiary public hospital.
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Jet versus vibrating mesh nebulizer for tobramycin aerosol in spontaneously breathing children with tracheostomies: A simulation studyTracheostomy tubes act as foreign bodies, predisposing the surrounding airway to respiratory infections. Initial treatment for infections is topical - nebulized tobramycin - although guidelines for standardized treatment are lacking.
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Pooled Analysis of Physical Activity, Sedentary Behavior, and Sleep among Children from 33 CountriesThe prevalence estimates of physical activity, sedentary behavior, and sleep (collectively known as movement behaviors) in 3- and 4-year-old children worldwide remains uncertain.
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The Spectrum and Burden of COVID-19-Associated Neurologic Disease in Australian Children 2020-2023We aimed to describe the clinical spectrum and burden of COVID-19-associated neurologic disease in Australian children.
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Exploring the Experiences of Australian Fathers Who Lead School ‘Dads Groups’Past research suggests that fathers are underrepresented in traditional parenting and child health promotion programs compared to mothers. One promising method to deliver support is a peer-facilitated approach that enables fathers to connect with their peers. This model has been adopted by several community organisations in Australia. However, limited research evaluates the implementation and impact of these services.
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Consultation informs strategies for improving the use of functional evidence in variant classificationWhen investigating whether a variant identified by diagnostic genetic testing is causal for disease, applied genetics professionals evaluate all available evidence to assign a clinical classification. Functional assays of higher and higher throughput are increasingly being generated and, when appropriate, can provide strong functional evidence for or against pathogenicity in variant classification. Despite functional assay data representing unprecedented value for genomic diagnostics, challenges remain around the application of functional evidence in variant curation.
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Care provided to women during and after a pregnancy complicated by hyperglycaemia: the impacts of a multi-component health systems interventionAboriginal and Torres Strait Islander women experience a disproportionate burden of hyperglycaemia in pregnancy. A multi-component health systems intervention aiming to improve antenatal and postpartum care was implemented across Australia’s Northern Territory (NT) and Far North Queensland (FNQ) between 2016 and 2019. Components included clinician education, improving recall systems, enhancing policies and guidelines, and embedding Diabetes in Pregnancy (DIP) Clinical Registers in systems of care. This program was evaluated to determine impacts on clinical practice and maternal health.
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Does exercise in cool water cause a higher risk of hypoglycaemia than in thermoneutral conditions in type 1 diabetes?The aim of this study was to test the hypothesis that exercise in cool water results in a greater decrease in blood glucose concentration than in thermoneutral water or on land in individuals with type 1 diabetes.