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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.

Whose rural? Shaping rural psychiatry training in Aotearoa New Zealand

Defining rurality matters in healthcare. Evidence supports the singularity of the rural experience and its detrimental impact on health outcomes and, specifically, on mental health. Yet, no internationally accepted definition of 'rural' exists.

Translating the Eczema Bathing Study: why context and infection burden matter

Asha Jacinta Bernadette Bowen Walton Ricciardo BA MBBS DCH FRACP PhD GAICD FAHMS OAM MBBS (hon) DCH FACD Head, Healthy Skin and ARF Prevention

Move to Improve: Co-Designing a Hospital-Based Physical Activity Program for Children With Chronic Health Conditions

Physical activity can support physical and mental health among children living with chronic health conditions; however, programmes must be tailored to their specific needs to support participation.

Temporal analysis of respiratory virus epidemics in Victoria over winter 2024

During winter months of temperate regions, concurrent epidemics of multiple respiratory pathogens can occur, causing periods of increased clinical burden. Case time series, which are predominantly used to monitor infection levels, can exhibit substantial noise and day-of-the-week effects, limiting the visual interpretation of trends in raw data.

Vaccine hesitancy and uptake during pregnancy: investigating the role of emotional mental imagery

Vaccine hesitancy and suboptimal vaccine uptake pose significant threats to public health, but modifiable psychological factors underpinning them are under-investigated. We examined the prevalence of spontaneous emotional mental imagery relating to infectious diseases and perinatal vaccines and its unique associations with vaccine hesitancy and uptake behaviour.

Evaluating Type 1 Diabetes Resources to Improve Awareness and Knowledge of Type 1 Diabetes Within Community Sport Settings

A main challenge identified by youth during exercise and sport is the lack of knowledge and awareness around type 1 diabetes (T1D) particularly in community sport settings. Working with youth living with T1D, parents and community sport coaches, our team has developed resources for the T1D and sporting community. This study was to evaluate the acceptability and usability of the resources.

“It Makes You Feel Like Not Sending Your Kids to School”: Aboriginal Parents’ Experiences of the Transition to School

The transition to formal schooling is a critical milestone in a child’s development. For Aboriginal children, early experiences are shaped by both cultural strengths and enduring impacts of colonisation. This study explored factors influencing Aboriginal families’ transition-to-school experiences in an urban Western Australian community.

AI succeeds in diagnosing rare diseases

Timo Lassmann BSc (Hons) MSc PhD Feilman Fellow; Head, Precision Health Research and Head, Translational Intelligence timo.lassmann@thekids.org.au

Corrigendum to “World Allergy Organization (WAO) Diagnosis and Rationale for Action against Cow's Milk Allergy (DRACMA) guidelines update – X – Breastfeeding a baby with cow's milk allergy

Debbie Palmer BSc BND PhD Head, Nutrition in Early Life debbie.palmer@uwa.edu.au Head, Nutrition in Early Life Areas of research expertise: Maternal