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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.
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.
ETV6::RUNX1 is one of the most common recurrent genomic abnormalities in acute lymphoblastic leukaemia (ALL) and is associated with a good prognosis. High expression of NTRK1, encoding tropomyosin receptor kinase A (TrkA), confers a poor prognosis in other malignancies and may contribute to therapy resistance in patients with ETV6::RUNX1 B-ALL.
Tertiary Lymphoid Structures (TLSs) are ectopic lymphoid aggregates that form within the tumor microenvironment (TME) and are increasingly recognized as potential prognostic biomarkers in various cancers. However, the spatial heterogeneity and prognostic value of TLSs in esophageal squamous cell carcinoma (ESCC) remain poorly defined. This study aimed to characterize the spatial distribution patterns of TLSs and tumor-infiltrating lymphocytes (TILs), and to establish a refined prognostic model for ESCC patients in both surgery-only and neoadjuvant therapy cohorts.
National policies are essential for countries to adapt to the negative health impacts of climate change. Children are disproportionately affected by these impacts and must be at the heart of adaptation policies to address their vulnerabilities. Adaptation commitments worldwide are integrated into national adaptation plans, nationally determined contributions, national communications, and other multisectoral policies. We aimed to evaluate how effectively national climate change policies worldwide plan to protect child health, considering a range of determinants for successful child-health adaptation.
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.
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.
There is growing evidence to support partial oral antibiotic treatment of severe infections such as Staphylococcus aureus bacteremia, but clinical practice is slow to adopt this paradigm. We know little about how patients with severe infection experience and perceive intravenous and oral antibiotics in terms of quality of life and clinical effectiveness. We performed a qualitative study to elicit patients' views on treatment with intravenous and oral antibiotics, aiming to provide insights that could inform collaborative treatment decision-making.
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.