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Functional characterization of the MED12 p.Arg1138Trp variant in females: implications for neural development and disease mechanismSeven 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.
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Pediatric Bronchiectasis Action Management Plan to Improve Clinical Outcomes: A Randomized Controlled TrialManaging bronchiectasis exacerbations is a priority for patients, parents, and caregivers of children with bronchiectasis. However, evidence-based strategies among the pediatric population remain limited.
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Clinical Predictors of Longitudinal Respiratory Exacerbation Outcomes in Young Hospitalised ChildrenRespiratory infection and wheezing illness are leading causes of hospitalisation in childhood, placing a significant burden on families and healthcare systems. However, reliably distinguishing children at risk of developing persistent disease from those likely to outgrow their symptoms remains a clinical challenge. Earlier identification would allow clinicians to focus care and resources on those most likely to benefit from long-term management, while reducing anxiety and uncertainty about the future for families.
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Interleukin-4 modulates type I interferon to augment antitumor immunityDespite advances in immunotherapy, metastatic melanoma remains a considerable therapeutic challenge due to the complexity of the tumor microenvironment. Intratumoral type I interferon (IFN-I) has long been associated with improved clinical outcomes. However, several IFN-I subtypes can also paradoxically promote tumor growth in some contexts.
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Biodiesel exhaust: The need for a systematic approach to health effects researchBiodiesel is a generic term for fuel that can be made from virtually any plant or animal oil via transesterification of triglycerides with an alcohol...
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Airway surface liquid pH is not acidic in children with cystic fibrosisModulation of ASL pH has been proposed as a therapy for CF. However, evidence that ASL pH is reduced in CF is limited and conflicting.
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Of pigs, mice, and men: Understanding early triggers of cystic fibrosis lung diseaseUnderstanding early triggers of Cystic Fibrosis Lung Disease
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Determinants of culture success in an airway epithelium sampling program of young children with cystic fibrosisDeterminants of culture success through retrospective analysis of a program of routinely brushing children with Cystic Fibrosis airway disease
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Angiogenesis-associated pathways play critical roles in neonatal sepsis outcomesNeonatal sepsis is a major cause of childhood mortality. Limited diagnostic tools and mechanistic insights have hampered our abilities to develop prophylactic or therapeutic interventions. Biomarkers in human neonatal sepsis have been repeatedly identified as associated with dysregulation of angiopoietin signaling and altered arachidonic acid metabolism.
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Real time monitoring of respiratory viral infections in cohort studies using a smartphone appCohort studies investigating respiratory disease pathogenesis aim to pair mechanistic investigations with longitudinal virus detection but are limited by the burden of methods tracking illness over time. In this study, we explored the utility of a purpose-built AERIAL TempTracker smartphone app to assess real-time data collection and adherence monitoring and overall burden to participants, while identifying symptomatic respiratory illnesses in two birth cohort studies.