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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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Improved diagnosis, treatment and prevention of recurrent tonsillitisStrep A causes over 775 million infections each year world-wide, including over 615 million cases of tonsil infection (Strep throat).
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BEAT-CF: Bayesian Evidence-Adaptive Tool to optimise management of Cystic FibrosisAn innovative response-adaptive approach to driving improvements in health outcomes, applied to cystic fibrosis.
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Developing a novel therapeutic pipeline for antibiotic resistant bacterial lung infection in children: investigating and assessing the potential phage therapyAntimicrobial resistance is a global health crisis, which has accelerated due to the overuse of antibiotics.
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Intranasal phage therapy overcomes antibody neutralization challenges in pulmonary Pseudomonas aeruginosa infectionsPhage therapy is a promising approach against multidrug-resistant infections, yet systemic administration can lead to incomplete cures. We investigated the distribution, immune responses, and efficacy of the therapeutic phage KPP10 delivered via intranasal or intraperitoneal routes in murine Pseudomonas aeruginosa lung infection models.
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A Small Device May Deliver King-Sized Solutions for Patients With an Exacerbation of Cystic FibrosisThe aim is to examine whether using a portable spring-infusor device to deliver antibiotics compared with a standard infusion pump (SIP) translated to (i) improve health outcomes, (ii) reduce the length of stay (LoS), and (iii) reduce cost for treatment of exacerbations of cystic fibrosis.
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Immune checkpoint therapy responders display early clonal expansion of tumor infiltrating lymphocytesImmune checkpoint therapy (ICT) causes durable tumour responses in a subgroup of patients, but it is not well known how T cell receptor beta (TCRβ) repertoire dynamics contribute to the therapeutic response.