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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.
Research
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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Skin infections flying under the radarThe Kids Research Institute Australia researchers have confirmed that skin infections in many Aboriginal children across northern Western Australia are going unrecognised.
Research
Goal motives and mental contrasting with implementation intentions facilitate strategic goal persistence and disengagementIn three experiments, we examine the role of motives underlying goal pursuit and the metacognitive strategy of mental contrasting with implementation intentions (MCII) to predict the strategic use of self-regulation responses (persistence, disengagement, and reengagement) when faced with attainable, unattainable, or multiple goals.
Research
Psychological distress and quality of life in asymptomatic adults following provision of imaging results for prevention of cardiovascular disease events: a scoping reviewPsychological distress and changes in health-related quality of life may occur after screening for disease. Reporting outcomes related to potential benefits and harms of screening is a key recommendation in the guidelines for reporting high-quality trials or interventions.
Research
Increased levels of solar radiation are associated with reduced type-2 diabetes prevalence: A cross-sectional study of Australian postcodesType-2 diabetes is a leading cause of death and disability. Emerging evidence suggests that ultraviolet radiation or sun exposure may limit its development. We used freely available online datasets to evaluate the associations between solar radiation and type-2 diabetes prevalence across Australia.
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Identification of distinct functional thymic programming of fetal and pediatric human γδ thymocytes via single-cell analysisDevelopmental thymic waves of innate-like and adaptive-like γδ T cells have been described, but the current understanding of γδ T cell development is mainly limited to mouse models.
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Mapping age- and sex-specific HIV prevalence in adults in sub-Saharan Africa, 2000–2018Human immunodeficiency virus and acquired immune deficiency syndrome (HIV/AIDS) is still among the leading causes of disease burden and mortality in sub-Saharan Africa (SSA), and the world is not on track to meet targets set for ending the epidemic by the Joint United Nations Programme on HIV/AIDS (UNAIDS) and the United Nations Sustainable Development Goals (SDGs).
Research
Frankenstein Cas9: engineering improved gene editing systemsThe discovery of CRISPR-Cas9 and its widespread use has revolutionised and propelled research in biological sciences.
Research
Healthy Environments and Lives (HEAL): Australian research network in human health and environmental changeThe HEAL Network aims to strengthen the Australian health system and community resilience to climate change, extreme events, and environmental degradation.