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Research
Clinical practice guidelines for paediatric X-linked hypophosphataemia in the era of burosumabX-linked hypophosphataemia (XLH), the most common inherited form of rickets, is caused by a PHEX gene mutation that leads to excessive serum levels of fibroblast growth factor 23 (FGF23). This leads to clinical manifestations such as rickets, osteomalacia, pain, lower limb deformity and overall diminished quality of life.
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Evaluation of real-life clinical outcomes in Australian youth with type 1 diabetes on hybrid closed-loop therapy: A retrospective studyTo determine the clinical outcomes and evaluate the perspectives of children with Type 1 diabetes (T1D) and their parents managing their child on hybrid closed-loop (HCL) therapy.
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Experiences and Attitudes of Parents Reducing Carbohydrate Intake in the Management of Their Child’s Type 1 Diabetes: A Qualitative StudyReducing carbohydrate (CHO) intake is being used as an approach to manage type 1 diabetes (T1D) in children. This study aimed to investigate the experiences and attitudes of parents of children with T1D who are reducing CHO intake to help manage blood glucose levels.
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Decreased occurrence of ketoacidosis and preservation of beta cell function in relatives screened and monitored for type 1 diabetes in Australia and New ZealandIslet autoantibody screening of infants and young children in the Northern Hemisphere, together with semi-annual metabolic monitoring, is associated with a lower risk of ketoacidosis (DKA) and improved glucose control after diagnosis of clinical (stage 3) type 1 diabetes (T1D). We aimed to determine if similar benefits applied to older Australians and New Zealanders monitored less rigorously.
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The diabetes management experiences questionnaire: Psychometric validation among adults with type 1 diabetesTo examine the psychometric properties of the Diabetes Management Experiences Questionnaire (DME-Q). Adapted from the validated Glucose Monitoring Experiences Questionnaire, the DME-Q captures satisfaction with diabetes management irrespective of treatment modalities.
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Prevalence and characteristics of paediatric X-linked hypophosphataemia in Australia and New Zealand: Results from the Australian and the New Zealand Paediatric Surveillance Units surveyX-linked hypophosphataemia (XLH) is the most common heritable form of rickets. Prevalence data varies across the literature between 1 in 20,000 and 1 in 200,000 per population.
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Continuous glucose monitoring has an increasing role in pre-symptomatic type 1 diabetes: Advantages, limitations, and comparisons with laboratory-based testingType 1 diabetes is well-recognised as a continuum heralded by the development of islet autoantibodies, progression to islet autoimmunity causing beta cell destruction, culminating in insulin deficiency and clinical disease. Abnormalities of glucose homeostasis are known to exist well before the onset of typical symptoms.
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Effects of dietary fat and protein on glucoregulatory hormones in adolescents and young adults with type 1 diabetesDietary fat and protein impact postprandial hyperglycaemia in people with type 1 diabetes, but the underlying mechanisms are poorly understood. Glucoregulatory hormones are also known to modulate gastric emptying and may contribute to this effect.
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Continuous subcutaneous insulin infusion alters microRNA expression and glycaemic variability in children with type 1 diabetesTo determine whether continuous subcutaneous insulin infusion (CSII) vs. multiple daily injections (MDI) therapy from near-diagnosis of type 1 diabetes is associated with reduced glycaemic variability (GV) and altered microRNA (miRNAs) expression.
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Type 1 diabetes in pregnancy is associated with distinct changes in the composition and function of the gut microbiomeThe gut microbiome changes in response to a range of environmental conditions, life events and disease states. Pregnancy is a natural life event that involves major physiological adaptation yet studies of the microbiome in pregnancy are limited and their findings inconsistent. Pregnancy with type 1 diabetes (T1D) is associated with increased maternal and fetal risks but the gut microbiome in this context has not been characterized. By whole metagenome sequencing, we defined the taxonomic composition and function of the gut bacterial microbiome across 70 pregnancies, 36 in women with T1D.