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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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Current parenteral nutrition practice and clinical outcomes of term and late preterm infants: A retrospective studyLimited studies have described parenteral nutrition (PN) practices and clinical outcomes in term and late preterm infants. The aim of this study was to describe the current practice of PN in term and late preterm infants and their short-term clinical outcomes.
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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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Infectious complications and optimising infection prevention for children with cochlear implantsTo describe the clinical epidemiology of children receiving cochlear implants, as well as the management and outcomes of cochlear implant infections and adherence to infection prevention measures.
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Penicillin Reactions in Patients With Severe Rheumatic Heart Disease: A Presidential Advisory From the American Heart AssociationJonathan Rosemary Carapetis AM Wyber AM MBBS FRACP FAFPHM PhD FAHMS MBChB MPH FRACGP PhD Executive Director; Co-Head, Strep A Translation; Co-Founder
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Child protection involvement of children of mothers with intellectual disabilityChildren born to parents with intellectual disability (ID) have been shown as disproportionally represented in child protection services however with limited population-based research.
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Clinical significance and applications of oscillometryRecently, "Technical standards for respiratory oscillometry" was published, which reviewed the physiological basis of oscillometric measures and detailed the technical factors related to equipment and test performance, quality assurance and reporting of results. Here we present a review of the clinical significance and applications of oscillometry.
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Atelectasis and lung recruitment in pediatric anesthesia: An educational reviewGeneral anesthesia is associated with development of pulmonary atelectasis. Children are more vulnerable to the development and adverse effects of atelectasis. We review the physiology and risk factors for the development of atelectasis in pediatric patients under general anesthesia.
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Developmental respiratory physiologyVarious developmental aspects of respiratory physiology put infants and young children at an increased risk of respiratory failure, which is associated with a higher rate of critical incidents during anesthesia.
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The “IKEA-effect” and modern anesthesia machinesBritta Regli-von Ungern-Sternberg AM FAHMS MD, PhD, DEAA, FANZA Chair of Paediatric anaesthesia, University of Western Australia; Consultant