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Islet autoantibodies herald early type 1 diabetes. However, less is known of the evolution of autoantibodies to the islet autoantigen ZnT8. Our primary aim was to characterise the development of islet autoantibodies in a pregnancy-birth at-risk cohort and to provide new knowledge about ZnT8A.
X-linked hypophosphatemia (XLH) is a rare, X-linked dominant condition with a high burden of both physical and psychosocial disease. This study aimed to describe the experience and burden of disease for children and adults living with XLH in Australia by inviting affected individuals and their carers to complete an online questionnaire. Of the 46 responses, half were completed by a person with XLH, and half by carers. Thirty percent were male, 33% were aged less than 18 yr.
Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) and generalized arterial calcification of infancy (GACI) occur secondary to biallelic ectonucleotide pyrophosphate/phosphodiesterase 1 (ENPP1) loss-of-function pathogenic variants. GACI is a life-threatening condition, often presenting in the neonatal period with heart failure and hypertension, caused by calcification of the media in large- and medium-sized arteries.
Children with early-stage (pre-symptomatic) type 1 diabetes are currently identified primarily via research-based screening programmes in Australia. Once identified, families live with the knowledge that their child has an increased chance of developing symptomatic, lifelong, insulin-requiring type 1 diabetes but have no specific clinical pathway available to them in Western Australia for accessing tailored support or education. This project aimed to co-design a new clinical pathway to address this unmet need.
Physical activity can support physical and mental health among children living with chronic health conditions; however, programmes must be tailored to their specific needs to support participation.
Enteroviruses (EVs) have long been implicated in the development of islet autoimmunity (IA) and type 1 diabetes. However, given the ubiquity of EV infections in children, disease susceptibility is likely driven by host-specific immune responses rather than viral exposure alone.
The potential implementation of early type 1 diabetes (T1D) detection pathways, encompassing autoantibody screening and longitudinal monitoring, raises important psychosocial considerations for ethical, person-centred care. This review summarises evidence on the psychosocial impact of early T1D detection, identifying key evidence gaps and recommendations for integrating psychosocial support.
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.
International guidelines recommend multidisciplinary intervention programs for addressing childhood obesity. In Western Australia, community-based healthy lifestyle programs for children and young people are insufficient for demand, especially for those over-represented in obesity statistics relating to prevalence. This protocol outlines the implementation and evaluation of an adapted, evidenced, community-based program in Perth, Western Australia.
Sex hormones, such as oestrogen and testosterone, display significant immune modulatory properties. This is highly relevant for transgender (trans) people who undergo gender-affirming hormone (GAH) treatment. However, only a limited number of studies have evaluated the immunological impact of GAH treatments, and almost none have assessed the impact in trans young people.