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Functional characterization of the MED12 p.Arg1138Trp variant in females: implications for neural development and disease mechanism

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.

Pediatric Bronchiectasis Action Management Plan to Improve Clinical Outcomes: A Randomized Controlled Trial

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.

Innate epithelial and functional differences in airway epithelium of children with acute wheeze

Early childhood wheeze is a major risk factor for asthma. However, not all children who wheeze will develop the disease. The airway epithelium has been shown to be involved in asthma pathogenesis. Despite this, the airway epithelium of children with acute wheeze remains poorly characterized.

What goes up must come down: dynamics of type 1 interferon signaling across the lifespan

Type 1 interferons (T1IFNs) are typically expressed in low concentrations under homeostatic conditions, but upon pathogenic insult or perturbation of the pathway, these critical immune signaling molecules can become either protectors from or drivers of pathology. While essential for initiating antiviral defense and modulating inflammation, dysregulation of T1IFN signaling can contribute to immunopathology, making it and its associated pathways prime targets for immune evasion and disruption by pathogens. 

Real world effectiveness of early ensitrelvir treatment in patients with SARS-CoV-2, a retrospective case series

Ensitrelvir, a 3C-like protease inhibitor, received emergency approval in Japan in November 2022 for treating non-hospitalized patients with mild-to-moderate COVID-19. However, confirmation of its real-world clinical effectiveness is limited.

Defective cell migration as a mechanism of dysregulated asthmatic airway repair

The findings from this study show that in children with asthma this protective barrier is different from children without asthma.

Improved diagnosis, treatment and prevention of recurrent tonsillitis

Strep A causes over 775 million infections each year world-wide, including over 615 million cases of tonsil infection (Strep throat).

Vulnerable from the first breath - epithelial dysfunction and respiratory outcomes in children

We have been studying the importance of the epithelial cells lining the airways in the nose and lungs.

Lung study helps history-making generation get a handle on their health

A lung function study carried out by Dr Shannon Simpson provided the most comprehensive follow-up of very pre-term children of any study so far carried out on the lung health of this vulnerable group.

Identification of epithelial phospholipase A2 receptor 1 as a potential target in asthma

PLA2R1 is increased in the airway epithelium in asthma, and serves as a regulator of airway hyperresponsiveness, airway permeability, antigen sensitization, and airway inflammation