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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.

Inoculation Theory and Sport, Exercise, and Physical Activity

Movement is at the core of human existence. For infants and children, exploratory movement offers a scaffold for important learning and development outcomes, and in adolescents and adults, regular activity is key for promoting good physical and mental health.

A differentiated nasal epithelial cell model derived from children with acute wheeze and asthma

The airway epithelium is the primary structural and functional airway barrier and orchestrates innate immunity. Some children may have underlying epithelial vulnerabilities that contribute to the pathogenesis of acute wheeze and asthma.

Identifying Infants <32 Weeks' Gestation at Low Risk of Early-Onset Sepsis: A 10-Year Retrospective Study from Western Australia

Preterm infants are commonly treated with antibiotics on admission to the neonatal unit as part of routine care. We aimed to identify infants <32 weeks' gestation at low risk of early-onset sepsis (EOS) in whom antibiotics could be safely withheld.

Group mindful self-compassion training to improve mental health outcomes for gender and sexually diverse young adults

This study investigated the effects of Mindful Self-Compassion (MSC) training on the mental health of gender and sexually diverse young adults (aged 18–25 years) in Australia. A single-blind randomized controlled trial was conducted in 2020–2022 comparing an online-delivered 8-week group MSC training program with a waitlist control.

Longitudinal surveillance of group A streptococcal pharyngitis and impetigo in remote Western Australian school children informs acute rheumatic fever prevention

The prevalence of impetigo and pharyngitis - which are both superficial group A streptococcus (GAS) infections that precede acute rheumatic fever - is poorly defined. Guidelines recommend the early diagnosis of both infections to prevent ARF; however, screening to enable the concurrent detection of these infections in high-risk populations has rarely been performed. 

Development and initial validation of the Communication Inventory Disability – Observer Reported (CID-OR): a measure of communication in CDKL5 deficiency disorder

CDKL5 Deficiency Disorder (CDD) is a rare neurodevelopmental disorder characterised by early onset seizures combined with complex healthcare needs and developmental impairment that influence functional domains including communication. Communication is a high priority domain for families but currently used measures demonstrate floor effects. 

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.

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.