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Research

Cystic 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.

Research

Burns are common worldwide, and the vast majority are non-severe burns of less than 20% of the total body surface area (TBSA). In Australia, paediatric burns account for a third of all burn admissions, thus understanding the quality-of-life outcomes after a non-severe burn in children is important.

Research

Without any realistic prospect of comprehensive global vaccine coverage and lasting immunity, control of pandemics such as COVID-19 will require implementation of large-scale, rapid identification and isolation of infectious individuals to limit further transmission. Here, we describe an automated, high-throughput integrated screening platform, incorporating saliva-based loop-mediated isothermal amplification (LAMP) technology, that is designed for population-scale sensitive detection of infectious carriers of SARS-CoV-2 RNA.

Research

Pathogenic fungi can lose virulence after protracted periods of culture, but little is known of the underlying mechanisms. Here, we present the first analysis of DNA methylation flux at a single-base resolution for the plant pathogen B. cinerea and identify differentially methylated genes/genomic regions associated with virulence erosion during in vitro culture.

Research

Streptococcus dysgalactiae subspecies equisimilis and Streptococcus pyogenes share skin and throat niches with extensive genomic homology and horizontal gene transfer possibly underlying shared disease phenotypes.

Research

Belaynew Christopher Peter Hannah Minda Huong Taye Blyth Richmond Moore Sarna Le MD, MPH, PhD MBBS (Hons) DCH FRACP FRCPA PhD MBBS MRCP(UK) FRACP OAM

Research

The CDKL5 Clinical Severity Assessment is a comprehensive, content-validated measurement tool capturing the diverse challenges of cyclin-dependent kinase-like 5 deficiency disorder, a genetically caused developmental epileptic encephalopathy. The CCSA is divided into clinician-reported and caregiver-reported assessments. The aim of this study was to evaluate the factor structure of these measures through confirmatory factor analysis and evaluate their validity and reliability.

Research

A 'Black Out Rage Gallon' (borg) is a customised, individual alcoholic beverage popularised on TikTok, whereby half the water in a gallon jug is replaced with alcohol (usually spirits), flavourings, electrolytes and caffeine. We investigated the characteristics and portrayal of the emerging alcohol trend associated with the hashtag descriptor #borg on TikTok.

Research

Manifestations of insistence on sameness and circumscribed interests are complex, with individuals varying considerably, not only in the types of behaviours they express, but also in terms of a behaviour's frequency, intensity, trajectory, adaptive benefits, and impacts.

Research

First 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.