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A precision medicine approach to interpret a GATA4 genetic variant in a paediatric patient with congenital heart disease

Patients with congenital heart disease (CHD) are identified in 1% of live births. Improved surgical intervention means many patients now survive to adulthood, the corollary of which is increased mortality in the over-65-year-old congenital heart disease population. In the clinic, genetic sequencing increasingly identifies novel genetic variants in genes related to CHD.

Understanding wellbeing from the perspective of youth with chronic conditions: A group concept mapping approach

Promoting wellbeing for youth is a global health priority and young people with chronic conditions demonstrate disproportionately low wellbeing compared to their peers. However, wellbeing is variably defined, and little is understood as to what wellbeing means for this population. The aim of this study was to develop a conceptualisation of wellbeing that is rooted in the perspectives of young people with chronic conditions. 

Children's views on outdoor advertising of unhealthy food and beverages near schools

Children are often exposed to unhealthy outdoor food advertisements during the school commute. This exposure can have negative public health consequences given childhood weight gain has been linked to the marketing of energy-dense and nutrient-poor foods. This study aimed to explore schoolchildren's lived experiences and attitudes towards outdoor advertising surrounding their schools. 

Neighbourhood walkability and body mass index in children: Evidence from the Millennium Cohort Study in Wales

Overweight and obesity in children continues to increase. Yet, the role of active transport, namely walking, in mitigating these trends remains unclear. This study examined the cross-sectional association between walkability and children's Body Mass Index (BMI) and how this varies by socio-economic and lifestyle characteristics.

Protocol for the Australian Type 1 Diabetes National Screening Pilot: Assessing the feasibility and acceptability of three general population screening models in children

One third of Australian children diagnosed with type 1 diabetes present with life-threatening diabetic ketoacidosis (DKA) at diagnosis. Screening for early-stage, presymptomatic type 1 diabetes, with ongoing follow-up, can substantially reduce this risk (<5% risk). Several screening models are being trialled internationally, without consensus on the optimal approach. This pilot study aims to assess three models for a routine, population-wide screening programme in Australia.

Dietary patterns during pregnancy and maternal and birth outcomes in women with type 1 diabetes: the Environmental Determinants of Islet Autoimmunity (ENDIA) study

Dietary patterns characterised by high intakes of vegetables may lower the risk of pre-eclampsia and premature birth in the general population. The effect of dietary patterns in women with type 1 diabetes, who have an increased risk of complications in pregnancy, is not known. 

Respiratory infection- and asthma-prone, low vaccine responder children demonstrate distinct mononuclear cell DNA methylation pathways

nfants with frequent viral and bacterial respiratory infections exhibit compromised immunity to routine immunizations. They are also more likely to develop chronic respiratory diseases in later childhood. This study investigated the feasibility of epigenetic profiling to reveal endotype-specific molecular pathways with potential for early identification and immuno-modulation. 

Neonatal bacterial sepsis

Neonatal sepsis remains one of the key challenges of neonatal medicine, and together with preterm birth, causes almost 50% of all deaths globally for children younger than 5 years. Compared with advances achieved for other serious neonatal and early childhood conditions globally, progress in reducing neonatal sepsis has been much slower, especially in low-resource settings that have the highest burden of neonatal sepsis morbidity and mortality.

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.  

Respiratory Syncytial Virus Strain Evolution and Mutations in Western Australia in the Context of Nirsevimab Prophylaxis

Nirsevimab is a long-acting monoclonal antibody used to prevent respiratory syncytial virus (RSV) infection in infants and high-risk children. During the 2024 RSV season in Western Australia, 21 922 doses were administered to infants entering their first season and 1221 doses to at-risk children. In this context, the selection and spread of escape variants are a potential concern. This study aimed to investigate nirsevimab binding site mutations using clinical and wastewater data.