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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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Trending now: modelling global epidemiology of type 1 diabetes in children and adolescentsType 1 diabetes, one of the common chronic conditions in children and adolescents, is a serious lifelong condition requiring daily treatment with exogenous insulin for survival. Descriptive epidemiology is important for planning of adequate diabetes health-care provision and could provide clues to aetiology. Over the past few decades, standardised diabetes incidence registries have provided a wealth of data from selected countries.
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Exposomes and metabolic health through a physical activity lens: a narrative reviewIn this narrative review, we provide an overview of the role of physical activity as part of differing exposomes (our combined non-genetic exposures from conception onwards) and environmental influences on metabolic health. We discuss 'beneficial' exposomes (green/natural outdoor spaces, sun exposure, healthy diets and features of built environments) that could synergise with physical activity to prevent metabolic dysfunction, particularly that related to lifestyle diseases of obesity, type 2 diabetes and metabolic syndrome.
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Additional Insulin Is Required in Both the Early and Late Postprandial Periods for Meals High in Protein and Fat: A Randomized TrialThe pattern and quantity of insulin required for high-protein high-fat (HPHF) meals is not well understood. This study aimed to determine the amount and delivery pattern of insulin required to maintain euglycemia for 5 hours after consuming a HPHF meal compared with a low-protein low-fat (LPLF) meal.
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Antidiuretic hormone and the activation of glucose production during high intensity aerobic exerciseThis study aimed to investigate the role that antidiuretic hormone (ADH) may play in the activation of glucose production during high intensity aerobic exercise.
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DNA methylation patterns within whole blood of adolescents born from assisted reproductive technology are not different from adolescents born from natural conceptionStudy question: Do the epigenome-wide DNA methylation profiles of adolescents born from ART differ from the epigenome of naturally conceived counterparts? Summary answer: No significant differences in the DNA methylation profiles of adolescents born from ART [IVF or ICSI] were observed when compared to their naturally conceived, similar aged counterparts.
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A 10-second sprint does not blunt hormonal counter-regulation to subsequent hypoglycaemiaA 10-second sprint is unlikely to blunt the subsequent hormonal counter-regulation to hypoglycaemia in individuals with Type 1 diabetes
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Incidence of and risk factors for hospitalisations due to vascular complications: A population-based type 1 diabetes cohort (n=1316) followed into early adulthoodDetermining the incidence of hospitalisations and risk factors for vascular complications experienced during early adulthood in patients with childhood T1D
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High-dose intramuscular Vitamin D provides long-lasting moderate increases in serum 25-hydroxVitamin D levels and shorter-Term changes in plasma calciumIntramuscular injection of a large bolus of Vitamin D effectively increases serum 25-hydroxyVitamin D levels without evidence of metabolic abnormality.
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Home-based vs inpatient education for children newly diagnosed with type 1 diabetesWith adequate support, children newly diagnosed with Type 1 Diabetes can be safely managed at home following practical skills training