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Research
SLC6A14 Impacts Cystic Fibrosis Lung Disease Severity via mTOR and Epithelial Repair ModulationCystic fibrosis (CF), due to pathogenic variants in CFTR gene, is associated with chronic infection/inflammation responsible for airway epithelium alteration and lung function decline. Modifier genes induce phenotype variability between people with CF (pwCF) carrying the same CFTR variants. Among these, the gene encoding for the amino acid transporter SLC6A14 has been associated with lung disease severity and age of primary airway infection by the bacteria Pseudomonas aeruginosa.
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Transfers of disadvantage across three generations using latent class associations within familiesThere is a large volume of research on the persistence of advantage and disadvantage across generations. Intergenerational studies typically address family resources as independent factors, which ignores how risks cluster together and accumulate over time.
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Complications associated with paediatric airway management during the COVID-19 pandemic: an international, multicentre, observational studyRespiratory adverse events in adults with COVID-19 undergoing general anaesthesia can be life-threatening. However, there remains a knowledge gap about respiratory adverse events in children with COVID-19. We created an international observational registry to collect airway management outcomes in children with COVID-19 who were having a general anaesthetic.
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First Nations Peoples’ perceptions, knowledge and beliefs regarding stillbirth prevention and bereavement practices: A mixed methods systematic reviewFirst Nations Peoples endure disproportionate rates of stillbirth compared with non-First Nations Peoples. Previous interventions have aimed at reducing stillbirth in First Nations Peoples and providing better bereavement care without necessarily understanding the perceptions, knowledge and beliefs that could influence the design of the intervention and implementation.
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Adipose tissue in the small airways: How much is enough to drive functional changes?Obesity is a contributing factor to asthma severity; while it has long been understood that obesity is related to greater asthma burden, the mechanisms though which this occurs have not been fully elucidated. One common explanation is that obesity mechanically reduces lung volume through accumulation of adipose tissue external to the thoracic cavity.
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Overlapping Streptococcus pyogenes and Streptococcus dysgalactiae subspecies equisimilis household transmission and mobile genetic element exchangeStreptococcus dysgalactiae subspecies equisimilis and Streptococcus pyogenes share skin and throat niches with extensive genomic homology and horizontal gene transfer possibly underlying shared disease phenotypes.
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Intellectual disabilities and autism among children with congenital heart defects, Western Australia, 1983–2010Children with congenital heart defects (CHDs) are at higher risk of developing an intellectual disability. However, severity of intellectual disabilities among this group of children are largely unknown. Our objective was to determine the risk of intellectual disability (ID), ID severity, and autism among children with CHDs.
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Patterns, trends, and factors influencing hospitalizations for craniosynostosis in Western Australia. A population-based studyUnderstanding hospital service use among children with a diagnosis of craniosynostosis is important to improve services and outcomes. This study aimed to describe population-level trends, patterns, and factors influencing hospitalizations for craniosynostosis in Western Australia.
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Prevalence of long-term physical sequelae among patients treated with multi-drug and extensively drug-resistant tuberculosis: a systematic review and meta-analysisPhysical sequelae related to multi-drug resistant tuberculosis (MDR-TB) and extensively drug-resistant tuberculosis (XDR-TB) are emerging and under-recognised global challenges. This systematic review and meta-analysis aimed to quantify the prevalence and the types of long-term physical sequelae associated with patients treated for MDR- and XDR-TB.
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Ear Portal: An urban-based ear, nose, and throat, and audiology referral telehealth portal to improve access to specialist ear-health services for childrenShortage of ear, nose, and throat specialists in public hospitals can result in delays in the detection and management of otitis media. This study introduced a new hospital-based telehealth service, named the Ear Portal, and investigated its role in improving access to specialist care.