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A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders FlagshipThe Australian Genomics Cardiovascular Disorders Flagship was a national multidisciplinary collaboration. It aimed to investigate the feasibility of genome sequencing and functional genomics to resolve variants of uncertain significance in the clinical management of patients and families with cardiomyopathies, primary arrhythmias, and congenital heart disease.
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Physical activity management for youth with type 1 diabetes: Supporting active and inactive childrenRegular physical activity and exercise are important for youth and essential components of a healthy lifestyle. For youth with type 1 diabetes, regular physical activity can promote cardiovascular fitness, bone health, insulin sensitivity, and glucose management. However, the number of youth with type 1 diabetes who regularly meet minimum physical activity guidelines is low, and many encounter barriers to regular physical activity.
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Digenic Congenital Hypogonadotropic Hypogonadism Due to Heterozygous GNRH1 p.R31C and AMHR2 p.G445_L453del VariantsA 28-year-old man with congenital hypogonadotropic hypogonadism (CHH) was found to be heterozygous for the GNRH1 p.R31C mutation, reported in the literature as pathogenic and dominant. The same mutation was found in his son at birth, but the testing of the infant at 64 days confirmed the hormonal changes associated with minipuberty.
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Life in a time of COVID: retrospective examination of the association between physical activity and mental well-being in western Australians during and after lockdownThe aim of this study was to examine physical activity and sedentary behaviours during Western Australia's COVID-19 lockdown and their association with mental well-being.
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Roadmap to incorporating group A Streptococcus molecular point-of-care testing for remote Australia: a key activity to eliminate rheumatic heart diseaseJonathan Asha Dylan Rosemary Janessa Jeffrey Carapetis AM Bowen Barth Wyber Pickering Cannon AM MBBS FRACP FAFPHM PhD FAHMS BA MBBS DCH FRACP PhD
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Pertussis burden and acellular pertussis vaccine effectiveness in high risk childrenPertussis hospitalisation is more common among infants born prematurely, who have significant comorbidities, or are Indigenous, but acellular pertussis (aP) vaccine effectiveness (VE) estimates in these sub-groups are lacking. We measured aP VE by Indigenous status, and policy-relevant categories of prematurity and comorbidity, in a population-based Australian cohort.
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Preventing heart failure: a position paper of the Heart Failure Association in collaboration with the European Association of Preventive CardiologyThe heart failure epidemic is growing and its prevention, in order to reduce associated hospital readmission rates and its clinical and economic burden, is a key issue in modern cardiovascular medicine. The present position paper aims to provide practical evidence-based information to support the implementation of effective preventive measures.
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LUMOS - Low and Intermediate Grade Glioma Umbrella Study of Molecular Guided TherapieS at relapse: Protocol for a pilot studyIntroduction Grades 2 and 3 gliomas (G2/3 gliomas), when combined, are the second largest group of malignant brain tumours in adults. The outcomes for G2/3 gliomas at progression approach the dismal outcomes for glioblastoma (GBM), yet there is a paucity of trials for Australian patients with relapsed G2/3 gliomas compared with patients with GBM.
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Procedural anesthesia and sedation for children undergoing diagnostic and medical procedures — A review of postprocedural pain, nausea, and vomiting by questionnaire-based surveySedation and anesthesia are widely used to relieve pain and ensure cooperation during elective diagnostic and medical procedures in the pediatric population. However, there is currently limited evidence about the recovery trajectory following deep sedation or general anesthesia for such procedures in children.
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Comparison of two measures of behavior change in children after day surgeryA contemporary, well-validated instrument for the measurement of behavior change in children after general anesthesia is lacking. The Post Hospitalization Behavior Questionnaire for Ambulatory Surgery (PHBQ-AS) has been developed as an updated version of the original Post Hospitalization Behavior Questionnaire (PHBQ) to better reflect the current patient population and modern anesthetic practices.