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Clinical practice guidelines for paediatric X-linked hypophosphataemia in the era of burosumab

X-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.

Pre-and Postnatal Vitamin D Status and Allergy Outcomes in Early Childhood

The dramatic increase in the prevalence of allergic disease in recent decades reflects environmental and behavioural changes that have altered patterns of early immune development. The very early onset of allergic diseases points to the specific vulnerability of the developing immune system to environmental changes and the development of primary intervention strategies is crucial to address this unparalleled burden.

Spatiotemporal patterns of influenza in Western Australia

Understanding the geospatial distribution of influenza infection and the risk factors associated with infection clustering can inform targeted preventive interventions. We conducted a geospatial analysis to investigate the spatial patterns and identify drivers of medically attended influenza infection across all age groups in Western Australia.

Type 1 Diabetes

A lifelong auto-immune condition that can affect anyone, but is most commonly diagnosed in childhood.

Smooth sailing for Drina thanks to burden-breaking technology

Recent diabetes technology is helping 12-year-old Drina keep on top of her condition and be independent, while significantly easing the disease burden on her family.

Effects of simulated high altitude on blood glucose levels during exercise in individuals with Type 1 Diabetes

Current exercise guidelines for individuals with type 1 diabetes (T1D) do not consider the impact that high altitude may have on blood glucose levels (BGL) during exercise.

Physical activity estimated by osteogenic potential and energy expenditure has differing associations with bone mass in young adults: The Raine study

Ground impacts during physical activity may be important for peak bone mass. We found differences in how energy expenditure and impact scores estimated from a physical activity questionnaire related to bone health in young adults. Using both estimate types can improve our understanding of the skeletal benefits of physical activity. Purpose: It is unclear whether mechanical loading during physical activity, estimated from physical activity questionnaires which assess metabolic equivalents of task (METs), is associated with skeletal health.

“I don't think either of us have really got over the diagnosis.” Caregiver perspectives on medical trauma in adolescent type 1 diabetes; a trauma-informed qualitative investigation

Type 1 Diabetes (T1D) is a 'family illness'; diagnoses and management can be perceived as invasive or traumatic. Caregivers bear the brunt of the diagnostic shock, influencing their child's experience. Children and adolescents may grapple with the psychological effects of past/ongoing medical trauma. Additionally, adolescents may struggle with their mental health as they navigate tensions between caregiver involvement and their developmental need for autonomy.

The usability and feasibility of a self-compassion chatbot (COMPASS) for youth living with type 1 diabetes

Although it is well established that youth with type 1 Diabetes (T1D) experience high rates of distress, current clinical care is often under-resourced and unable to provide sufficient or timely psychological support. The current study was designed to evaluate the safety, usability and feasibility of 'COMPASS,' a self-compassion chatbot intervention. 

SARS-CoV-2 Infection and Childhood Islet Autoimmunity

This cohort study examines whether there is a temporal association between SARS-CoV-2 infection and the development of islet autoimmunity among Australian children with a first-degree relative with type 1 diabetes.