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Dr Jackie Davis BSc (Hons), PGradDipHlthProm, PhD Co-Director, ORIGINS 0478173989 jackie.davis@thekids.org.au Co-Director, ORIGINS Dr Jackie Davis
Seven female individuals with multiple congenital anomalies, developmental delay and/or intellectual disability have been found to have a genetic variant of uncertain significance in the mediator complex subunit 12 gene. The functional consequence of this genetic variant in disease is undetermined, and insight into disease mechanism is required.
Allergic sensitization and reduced ability to respond to viral infections may contribute to virus-induced wheeze and asthma development in young children. Plasmacytoid dendritic cells (pDC) are rare immune cells that produce type I interferons (IFN-I) and play a key role in orchestrating immune responses against viruses.
Managing bronchiectasis exacerbations is a priority for patients, parents, and caregivers of children with bronchiectasis. However, evidence-based strategies among the pediatric population remain limited.
Youth-onset type 2 diabetes is an emerging condition impacting Indigenous populations worldwide. Schools have an important role in supporting students to manage their health. We undertook a qualitative study to (i) explore the lived experience of type 2 diabetes, diabetes management and support in school environments and (ii) co-design recommendations for age-appropriate, culturally safe school-based strategies and supports. Interviews and focus groups were undertaken with Aboriginal and Torres Strait Islander youth, caregivers, health professionals and school-based staff. Aboriginal and Torres Strait Islander youth were involved in determining the research topic.
Estimating the temporal trends in infectious disease activity is crucial for monitoring disease spread and the impact of interventions. Surveillance indicators routinely collected to monitor these trends are often a composite of multiple pathogens. For example, "influenza-like illness"-routinely monitored as a proxy for influenza infections-is a symptom definition that could be caused by a wide range of pathogens, including multiple subtypes of influenza, SARS-CoV-2, and RSV.
Identifying individuals at high risk of type 1 diabetes (T1D) is crucial as disease-delaying medications are available. Here we report a microRNA (miRNA)-based dynamic (responsive to the environment) risk score developed using multicenter, multiethnic and multicountry ('multicontext') cohorts for T1D risk stratification. Discovery (wet and dry lab) analysis identified 50 miRNAs associated with functional β cell loss, which is a hallmark of T1D.
Peanut allergy is the most common childhood-onset, persistent food allergy. Peanut oral immunotherapy (OIT) is a potential treatment, but few studies prospectively examine the outcome of peanut OIT in young children using parent-measured doses compared to standard care (peanut avoidance).
Local treatment of pelvic Ewing Sarcoma (EWS) is czhallenging due to complex anatomy and potential complications. Local therapy may be deferred to maintain chemotherapy dose-intensity, but the impact of this delay on outcomes remains unclear.
To investigate the follow-up and outcomes of HIV-exposed infants in a setting of low HIV prevalence. This was a multicenter, retrospective study of live-born infants of women known to be living with HIV, at 9 tertiary pediatric centers in Australia and New Zealand from 2009-2025. Antenatal, perinatal, and postnatal data, and outcomes at clinic visits to 18 months of age were collected, including co-morbidities, development, and HIV results.