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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.
Temporal eating patterns and ultra-processed food (UPF) consumption have independently been associated with obesity and non-communicable diseases. Little is known about the temporal patterns of UPF consumption, as data is challenging to collect. Temporal data can be extracted from mobile food records (mFRs). The aim of this study was to identify the temporal eating patterns of those consuming UPFs using an mFR.
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.
Tools that can be used to collect behavioural data during pandemics are needed to inform policy and practice. The objective of this project was to develop the Your COVID-19 Risk tool in response to the global spread of COVID-19, aiming to promote health behaviour change. We developed an online resource based on key behavioural evidence-based risk factors related to contracting and spreading COVID-19. This tool allows for assessing risk and provides instant support to protect individuals from infection.
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.
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.
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.
Advanced hybrid closed-loop (AHCL) therapy with the Medtronic MiniMed™ 780G system improves glycemia; however, the clinical outcomes in younger children remain less established. This pilot study aimed to explore the continuous glucose monitoring (CGM) metrics in very young children on AHCL. Children between 2 and 7 years of age and on insulin pump therapy were recruited.
Carbohydrate-restricted diets are used by people with type 1 diabetes (T1D) to help manage their condition. However, the impact of this strategy on blood glucose responses to exercise is unknown. This study describes the nutritional strategies of an athlete with T1D, who follows a very low carbohydrate diet to manage her condition during an ultra-endurance open-water swimming event.