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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.

Lifting the wellbeing of adolescents and young adults with type 1 diabetes: A feasibility study of the LIFT app

Adolescents and young adults with type 1 diabetes have an increased risk of psychological distress. To address this, psychological support provided asynchronously via an app may be feasible. Our study aimed to explore feasibility and safety of the LIFT wellbeing app.

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.  

Move to improve: protocol for a single-arm, pragmatic feasibility trial of an individualised physical activity programme for children with chronic conditions

Physical activity improves physical and psychosocial outcomes in healthy children and in children with a range of chronic health conditions. Unfortunately, children with chronic health conditions have lower levels of physical activity compared to their healthy peers due to multiple restrictions in physical activities and therefore tend to have lower levels of physical activity compared with their peers. This paper describes the protocol for Move to Improve, a pragmatic trial of an individualised physical activity intervention for children with chronic health conditions.

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.

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.

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.

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.

Machine learning techniques to predict diabetic ketoacidosis and HbA1c above 7% among individuals with type 1 diabetes — A large multi-centre study in Australia and New Zealand

Type 1 diabetes and diabetic ketoacidosis (DKA) have a significant impact on individuals and society across a wide spectrum. Our objective was to utilize machine learning techniques to predict DKA and HbA1c>7 %.

Acceptance and Commitment Therapy (ACT) intervention in adolescents with type 1 diabetes: A pilot and feasibility study

A considerable proportion of patients with type 1 diabetes (T1D) experience emotional problems due to the continual demands of the disease, which may persist throughout life without appropriate support. The aim of this study was to assess the feasibility and acceptability of an Acceptance and Commitment Therapy (ACT) intervention and provide early indications of its capacity to impact psychosocial outcomes for adolescents with T1D.