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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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Diabetic Ketoacidosis at Onset of Type 1 Diabetes and Long-term HbA1c in 7,961 Children and Young Adults in the Australasian Diabetes Data NetworkThe relationship between diabetic ketoacidosis (DKA) at diagnosis of type 1 diabetes and long-term glycemic control varies between studies. We aimed, firstly, to characterize the association of DKA and its severity with long-term HbA1c in a large contemporary cohort, and secondly, to identify other independent determinants of long-term HbA1c.
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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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Variation in nutrition education practices in SWEET pediatric diabetes centers-an international comparisonNutrition education is central to pediatric type 1 diabetes management. Dietary management guidelines for type 1 diabetes are evidence based, but implementation may be challenging and inconsistent. We describe variation in the practice of nutrition education across pediatric diabetes centers globally and explore associations with A1c and BMI.
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The effect of oral insulin on subcutaneous insulin requirements and glycaemia in T1DMLiz Tim Davis Jones MBBS FRACP PhD MBBS DCH FRACP MD Co-director of Children’s Diabetes Centre Co-head, Diabetes and Obesity Research Co-director of
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Efficacy and safety of sirolimus in a neonate with persistent hypoglycaemia following near-total pancreatectomy for hyperinsulinaemic hypoglycaemiaThis study looks at hyperinsulinaemic hypoglycaemia, as characterised by inappropriate insulin secretion, as it is the most common cause for persistent...
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Cardiac autonomic dysfunction is associated with high-risk albumin-to-creatinine ratio in young adolescents with type 1 diabetes in AdDITThis study examined the association between cardiac autonomic dysfunction and high albumin-to-creatinine ratio (ACR) in adolescents with type 1 diabetes.
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School performance in children with type 1 diabetes: a contemporary population-based studyOur aim was to examine the school performance of children with type 1 diabetes in comparison to their peers, exploring changes over time, and the impact of...
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Long-term outcome of insulin pump therapy in children with type 1 diabetes assessed in a large population-based case-control studyWe determined the impact of insulin pump therapy on long-term glycaemic control, BMI, rate of severe hypoglycaemia and diabetic ketoacidosis (DKA) in children.
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The effect of midday moderate-intensity exercise on postexercise hypoglycemia risk in individuals with type 1 diabetesRecently we reported a biphasic increase in glucose requirements to maintain euglycemia after late-afternoon exercise, suggesting a unique pattern of delayed...