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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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Mapping breastfeeding and COVID-19 related content and engagement on Facebook: Results from an online social listening studyThe COVID-19 pandemic has seen evidence and advice evolve quickly. Since the start of the pandemic there has been confusion and concern about breastfeeding and COVID-19, and advice for this group has at times been contradictory. The volume of information on social media has exacerbated this. This study aimed to understand breastfeeding-related COVID-19 information sharing on social media during the global and Australian vaccine roll-out.
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Experiences of Caregivers and At-Risk Children Enrolled in a Prospective Pregnancy-Birth Cohort Study into the Causes of Type 1 Diabetes: The ENDIA StudyWe sought research experiences of caregivers and their children were enrolled in the Environmental Determinants of Islet Autoimmunity (ENDIA) study.
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CGM accuracy: Contrasting CE marking with the governmental controls of the USA (FDA) and Australia (TGA): A narrative reviewThe National Institute for Clinical Excellence updated guidance for continuous glucose monitoring (CGM) in 2022, recommending that CGM be available to all people living with type 1 diabetes. Manufacturers can trade in the UK with Conformité Européenne (CE) marking without an initial national assessment. The regulatory process for CGM CE marking, in contrast to the Food and Drug Administration (FDA) and Australian Therapeutic Goods Administration (TGA) process, is described.
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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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An Assessment of Clinical Continuous Glucose Monitoring Targets for Older and High-Risk People Living with Type 1 DiabetesTo assess relationships between continuous glucose monitoring (CGM) time in range (TIR), 70-180 mg/dL, time below range (TBR), <70 mg/dL, time above range (TAR), >180 mg/dL, and glucose coefficient of variation (CV) in relation to currently recommended clinical CGM targets for older people, which recommend reduced TIR and TBR targets relative to the general type 1 diabetes population.
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End-user acceptability of personal protective equipment disinfection for potential reuse: a survey of health-care workers in Aotearoa New ZealandThe COVID-19 pandemic has highlighted personal protective equipment (PPE) supply, distribution, and disposal issues worldwide. Calls to conserve PPE stocks and increase supply resulted in the rapid development of potential disinfection methods, with the possibility of improvements in medical waste reduction. However, how receptive health-care workers are to PPE reuse remains unknown. We aimed to examine the views of health-care workers who used PPE during the first COVID-19 wave in Aotearoa New Zealand, in relation to acceptability of PPE disinfection and reuse.
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The Benefits to Bone Health in Children and Pre-School Children with Additional Exercise Interventions: A Systematic Review and Meta-AnalysisDetermine if exercise interventions, beyond what is already provided to children and preschool children, improve bone health and reduce fracture incidence.
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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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ISPAD Clinical Practice Consensus Guidelines 2022: Assessment and management of hypoglycemia in children and adolescents with diabetesTim Jones MBBS DCH FRACP MD Co-head, Diabetes and Obesity Research Co-head, Diabetes and Obesity Research Areas of research expertise: Diabetes