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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.
Sepsis is a significant cause of mortality for children in Australia, particularly affecting young children, those with pre-existing health conditions and Aboriginal and Torres Strait Islander populations. The transition from hospital to home can be challenging for survivors, often leaving long-term impacts unaddressed.
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.
The high burden of peanut allergy underscores the need for treatment options that improve patient health-related quality of life (HRQL). However, the modifying effect of sex assigned at birth on treatment-related outcomes remains poorly understood. We sought to investigate whether sex modifies treatment effect on the change in overall and subdomain HRQL during the PPOIT-003 trial.
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.
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.
We performed a genome-wide association meta-analysis of 290,134 attention-deficit/hyperactivity disorder symptom measures of 70,953 unique individuals from multiple raters, ages and instruments.
A reliable and valid diagnostic classification system is pivotal for guiding clinical decision-making, facilitating rigorous and reproducible research findings, informing population-level health planning and resource allocation, and promoting well-being.