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Assessment of p.Phe508del-CFTR functional restoration in pediatric primary cystic fibrosis airway epithelial cells

Assessment of p.Phe508del-CFTR functional restoration in pediatric primary cystic fibrosis airway epithelial cells Abstract Background Mutations in

Research

Interventions to Improve Child Physical Activity in the Early Childhood Education and Care Setting: An Umbrella Review

Early childhood education and care (ECEC) services are a key setting to support improvements in the physical activity of young children. This umbrella review gathered and synthesised systematic review evidence of the effectiveness of interventions in the ECEC setting on the physical activity levels of children aged 0–6.

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Postvaccination Febrile Seizure Severity and Outcome

Vaccine-proximate febrile seizures accounted for a small proportion of all febrile seizures hospital presentations

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European Respiratory Society/American Thoracic Society technical statement: standardisation of the measurement of lung volumes, 2023 update

This document updates the 2005 European Respiratory Society (ERS) and American Thoracic Society (ATS) technical standard for the measurement of lung volumes. The 2005 document integrated the recommendations of an ATS/ERS task force with those from an earlier National Heart, Lung, and Blood Institute workshop that led to the publication of background papers between 1995 and 1999 and a consensus workshop report with more in-depth descriptions and discussion.

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Survival of people with cystic fibrosis in Australia

Survival statistics, estimated using data from national cystic fibrosis (CF) registries, inform the CF community and monitor disease progression. This study aimed to estimate survival among people with CF in Australia and to identify factors associated with survival.

Research

Predicting outcome following mild traumatic brain injury: Protocol for the longitudinal, prospective, observational Concussion Recovery (CREST) cohort study

Mild traumatic brain injury (mTBI) is a complex injury with heterogeneous physical, cognitive, emotional and functional outcomes. Many who sustain mTBI recover within 2 weeks of injury; however, approximately 10%-20% of individuals experience mTBI symptoms beyond this 'typical' recovery timeframe, known as persistent post-concussion symptoms (PPCS). Despite increasing interest in PPCS, uncertainty remains regarding its prevalence in community-based populations and the extent to which poor recovery may be identified using early predictive markers.

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Simplified bedside assessment of pulmonary gas exchange in very preterm infants at 36 weeks' postmenstrual age

We aimed to develop and validate a prediction table for a simplified measure of rightward shift of the fetal oxyhaemoglobin saturation (SpO2) versus inspired oxygen pressure (P IO2) curve as an objective marker of lung disease severity in very preterm infants, independent of unit altitude or oxygen prescribing policies.

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Achieving universal electrification of rural healthcare facilities in sub-Saharan Africa with decentralized renewable energy technologies

A potential response to the COVID-19 pandemic in sub-Saharan Africa (SSA) with long-term benefits is to provide electricity for medical equipment in rural health centers and communities. This study identifies a large gap in the electrification of healthcare facilities in SSA, and it shows that decentralized photovoltaic systems can offer a clean, reliable, quick, and cost-effective solution.

Research

Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic SLC30A9 Pathogenic Variants

Birk-Landau-Perez syndrome is a genetic disorder caused by biallelic pathogenic variants in SLC30A9 presenting with a complex movement disorder, developmental regression, oculomotor abnormalities, and renal impairment. It has previously been reported in 2 families. We describe the clinical phenotype of 8 further individuals from 4 unrelated families with SLC30A9-related disease.

Meet the team

Learn more about the team at the Wal-yan Respiratory Centre