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Research

Benefits, implementation and sustainability of innovative paediatric models of care for children with type 1 diabetes: a systematic review

The evidence about the acceptability and effectiveness of innovative paediatric models of care for Type 1 diabetes is limited. To address this gap, we synthesised literature on implemented models of care, model components, outcomes, and determinants of implementation and sustainability.

Research

Feasibility and acceptability of implementing an evidence-based ESCALATION system for paediatric clinical deterioration

The ESCALATION system is a novel paediatric Early Warning System that incorporates family involvement and sepsis recognition. This study aimed to assess the feasibility and iteratively refine the ESCALATION system in a variety of hospital settings in preparation for full-service implementation.

Research

Glycemic and Psychosocial Outcomes of Advanced Hybrid Closed-Loop Therapy in Youth With High HbA1c: A Randomized Clinical Trial

To determine the efficacy of advanced hybrid closed-loop therapy in a high-risk cohort of youth on continuous subcutaneous insulin infusion with or without continuous glucose monitoring with suboptimal glycemia.

Research

Septo-optic dysplasia and gastroschisis: trends in birth prevalence and association with maternal age

This study aims to describe the risk factors and trends in birth prevalence of septo-optic dysplasia (SOD) and gastroschisis between 1980 and 2023. This descriptive, population-based study of SOD and gastroschisis used Western Australian Register of Developmental Anomalies data from 1980 to 2023. Birth prevalence was calculated using Midwives Notification System data for all births after 20 weeks gestation.

Research

Beneficial health effects of ultraviolet radiation: expert review and conference report

Carcinogenic effects of ultraviolet radiation (UVR) with reference to skin cancer are the basis of widely implemented recommendations to avoid sun exposure. Whether the benefits of "restrictive sun policies" outweigh their potential harms due to diminished beneficial effects of sunlight exposure remain a matter of controversy.  

Research

A microRNA-based dynamic risk score for type 1 diabetes

Identifying individuals at high risk of type 1 diabetes (T1D) is crucial as disease-delaying medications are available. Here we report a microRNA (miRNA)-based dynamic (responsive to the environment) risk score developed using multicenter, multiethnic and multicountry ('multicontext') cohorts for T1D risk stratification. Discovery (wet and dry lab) analysis identified 50 miRNAs associated with functional β cell loss, which is a hallmark of T1D. 

Research

Measuring delivery and impact in community-based health promotion initiatives: development and overview of the Healthway Evaluation Framework

Robust evaluation is critical for understanding and enhancing the impact of health promotion initiatives. However, many community-based organisations face challenges in planning and conducting evaluation due to limitations in knowledge, resources, and the applicability of existing evaluation frameworks. The Healthway Evaluation Framework, and its accompanying practical Measurement Toolkit, was designed to support evaluation planning, implementation, and reporting across diverse health promotion programs and settings.

Research

What is it like living with X-linked hypophosphatemia?: results from an Australian consumer survey

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.

Research

Evolution of islet autoantibodies in the Environmental Determinants of Islet Autoimmunity (ENDIA) prospective cohort

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.

Research

Six cases of ENPP1 pathogenic variants causing autosomal recessive hypophosphatemic rickets type 2 and generalized arterial calcification of infancy

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.