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Research
The Feasibility of Personalized Endpoints in Assessing Treatment Outcomes for Rare Diseases: A Pilot Study of Goal Attainment Scaling in SCN2A-AssociatedFor individuals living with rare neurodevelopmental disorders, particularly those who are at the most severe end of the spectrum, standardized outcome measures may lack the sensitivity to capture small but meaningful changes.
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The future of paediatric obstructive sleep apnoea assessment: Integrating artificial intelligence, biomarkers, and moreAssessing obstructive sleep apnoea in children involves various methodologies, including sleep studies, nocturnal oximetry, and clinical evaluations. Previous literature has extensively discussed these traditional methods.
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Examining Changes in Implementation of Priority Healthy Eating and Physical Activity Practices, and Related Barriers, Over Time in Australian Early Childhood Education and Care ServicesPromoting healthy eating and physical activity in early childhood education and care is recommended within guidelines and supported by health promotion programs; however, implementation is suboptimal. Evidence suggests implementation within the sector varies over time; however, this has not been empirically examined in relation to implementation barriers.
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Mining single-cell data for cell type-disease associationsA robust understanding of the cellular mechanisms underlying diseases sets the foundation for the effective design of drugs and other interventions. The wealth of existing single-cell atlases offers the opportunity to uncover high-resolution information on expression patterns across various cell types and
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Are assisted reproductive technology pregnancies more likely to be exposed to teratogenic medication? A whole-population studyAssisted reproductive technology (ART) pregnancies are at greater risk of birth defects than non-ART pregnancies. Teratogenic medication exposure is a potential cause of birth defects that has not been compared between ART and non-ART pregnancies.
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Protocol to implement and evaluate a culturally secure, strength-based, equine-assisted learning program, "Yawardani Jan-ga" (horses helping)Australian Aboriginal people experience stressors from inequalities across crucial social determinants, including deep and entrenched disadvantage and exclusion. The impact of unaddressed historical issues is pervasive and intergenerational. The disproportionate rates of Aboriginal youth suicide, juvenile detention and imprisonment highlight the inadequacy of existing social and emotional wellbeing programs and services for Aboriginal children and young people.
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Extreme weather events, home damage, and the eroding locus of controlThe catastrophic consequences of natural disasters on social and economic systems are extensively documented, yet their influence on individuals' sense of control over their life outcomes remains unexplored. This study pioneers an investigation into the causal effects of natural disaster-related home damage on the locus of control.
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Plasma testosterone concentration is correlated with circulating immune cell abundance in transgender young people on gender-affirming hormone treatmentSex hormones, such as oestrogen and testosterone, display significant immune modulatory properties. This is highly relevant for transgender (trans) people who undergo gender-affirming hormone (GAH) treatment. However, only a limited number of studies have evaluated the immunological impact of GAH treatments, and almost none have assessed the impact in trans young people.
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Suppression of TGF-β/SMAD signaling by an inner nuclear membrane phosphatase complexCytokines of the TGF-β superfamily control essential cell fate decisions via receptor regulated SMAD (R-SMAD) transcription factors. Ligand-induced R-SMAD phosphorylation in the cytosol triggers their activation and nuclear accumulation. We determine how R-SMADs are inactivated by dephosphorylation in the cell nucleus to counteract signaling by TGF-β superfamily ligands.
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The overlapping global distribution of dengue, chikungunya, Zika and yellow feverArboviruses transmitted mainly by Aedes (Stegomyia) aegypti and Ae. albopictus, including dengue, chikungunya, and Zika viruses, and yellow fever virus in urban settings, pose an escalating global threat. Existing risk maps, often hampered by surveillance biases, may underestimate or misrepresent the true distribution of these diseases and do not incorporate epidemiological similarities despite shared vector species.