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Research

Although adolescent dietary patterns tend to be of poor quality, it is unclear whether dietary patterns established in adolescence persist into adulthood. We examined trajectories across adolescence and early adulthood for 2 major dietary patterns and their associations with childhood and parental factors. Using data from the Western Australian Pregnancy Cohort (Raine Study), intakes of 38 food groups were estimated at ages 14, 17, 20 and 22 y in 1414 participants using evaluated FFQs.

Research

Advances in omics and specifically genomic technologies are increasingly transforming rare disease diagnosis. However, the benefits of these advances are disproportionately experienced within and between populations, with Indigenous populations frequently experiencing diagnostic and therapeutic inequities. The International Rare Disease Research Consortium (IRDiRC) multi-stakeholder partnership has been advancing toward the vision of all people living with a rare disease receiving an accurate diagnosis, care, and available therapy within 1 year of coming to medical attention. In order to further progress toward this vision, IRDiRC has created a taskforce to explore the access barriers to diagnosis of rare genetic diseases faced by Indigenous peoples, with a view of developing recommendations to overcome them.

Research

The diagnosis of acute rheumatic fever relies on a combination of clinical evaluation and laboratory studies. Diagnosis is usually made using the Jones criteria, which have recently been updated in 2015.

Research

DYRK1A is a serine/threonine kinase encoded on human chromosome 21 (HSA21) that has been implicated in several pathologies of Down syndrome (DS), including cognitive deficits and Alzheimer's disease. Although children with DS are predisposed to developing leukemia, especially B cell acute lymphoblastic leukemia (B-ALL), the HSA21 genes that contribute to malignancies remain largely undefined. Here, we report that DYRK1A is overexpressed and required for B-ALL. Genetic and pharmacologic inhibition of DYRK1A decreased leukemic cell expansion and suppressed B-ALL development in vitro and in vivo.

Research

An estimated 15 million babies (∼11%) are born preterm each year (before 37 weeks of gestation), the rates of which are increasing worldwide. Enhanced perinatal care, including antenatal corticosteroids, postnatal surfactant and improved respiratory management, have markedly improved survival outcomes since the 1990s, particularly for babies born very preterm (<32 weeks gestation). However, long-term pulmonary sequelae are frequent in preterm survivors and ongoing clinical management is often required.

Research

Physical activity is essential for children’s healthy development, yet COVID-19 physical distancing restrictions such as school closures and staying at home, playground closures, and the cancelling of organised community sport have dramatically altered children’s opportunities to be physically active. This study describes changes in levels of physical activity and screen time from February 2020 (i.e., before COVID-19 restrictions were introduced in Western Australia) to May 2020 (i.e., when COVID-19 restrictions were in place). Parents of children aged 5 to 9 years from Western Australia were eligible to participate and recruited through convenience sampling.

Research

Cannabinoids are a group of chemicals that bind to receptors in the human body and, in turn, modulate the endocannabinoid system (ECS). They can be endogenously produced, synthetic, or derived from the plant Cannabis sativa L. Research over the past several decades has shown that the ECS is a cellular communication network essential to maintain multiple biological functions and the homeostasis of the body. Indeed, cannabinoids have been shown to influence a wide variety of biological effects, including memory, pain, reproduction, bone remodeling or immunity, to name a few. Unsurprisingly, given these broad physiological effects, alterations of the ECS have been found in different diseases, including cancer.

Research

Advances in omics technologies have generated exponentially larger volumes of biological data; however, their analyses and interpretation are limited to computationally proficient scientists. We created OmicsVolcano, an interactive open-source software tool to enable visualization and exploration of high-throughput biological data, while highlighting features of interest using a volcano plot interface. In contrast to existing tools, our software and user-interface design allow it to be used without requiring any programming skills to generate high-quality and presentation-ready images.

Research

Antimicrobial resistance poses a significant threat to modern healthcare as it limits treatment options for bacterial infections, particularly impacting those with chronic conditions such as cystic fibrosis (CF). Viscous mucus accumulation in the lungs of individuals genetically predisposed to CF leads to recurrent bacterial infections, necessitating prolonged antimicrobial chemotherapy. Pseudomonas aeruginosa infections are the predominant driver of CF lung disease, and airway isolates are frequently resistant to multiple antimicrobials.

Research

Harmful alcohol consumption contributes to poorer health for all people. For Indigenous Peoples of Australia, Canada, and New Zealand alcohol impacts their wellbeing significantly, this is partially explained by both their experiences of colonisation and the resulting impact on structural and social determinants of health. Indigenous Peoples have a recognised right to self-determination, which includes their right to contribute to policy decisions that affect them.