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Research

The effect of CFTR modulators on structural lung disease in cystic fibrosis

Newly developed quantitative chest computed tomography (CT) outcomes designed specifically to assess structural abnormalities related to cystic fibrosis (CF) lung disease are now available. CFTR modulators potentially can reduce some structural lung abnormalities. We aimed to investigate the effect of CFTR modulators on structural lung disease progression using different quantitative CT analysis methods specific for people with CF (PwCF).

Research

Cohort Profile: The ORIGINS pregnancy and birth cohort

Desiree Dr Jackie Susan Lisa Zenobia Silva Davis Prescott Gibson Talati MBBS, FRACP, MPH, PhD BSc (Hons), PGradDipHlthProm, PhD MBBS BMedSci PhD

Research

Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases

Genetic diagnosis plays a crucial role in rare diseases, particularly with the increasing availability of emerging and accessible treatments. The International Rare Diseases Research Consortium (IRDiRC) has set its primary goal as: "Ensuring that all patients who present with a suspected rare disease receive a diagnosis within one year if their disorder is documented in the medical literature". 

Research

Acceptability of OP/Na swabbing for SARS-CoV-2: a prospective observational cohort surveillance study in Western Australian schools

When the COVID-19 pandemic was declared, Governments responded with lockdown and isolation measures to combat viral spread, including the closure of many schools. More than a year later, widespread screening for SARS-CoV-2 is critical to allow schools and other institutions to remain open.

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Plasma retinol and total carotenes and fracture risk after long-term supplementation with high doses of retinol

The aim of this study was to investigate plasma retinol and total carotene concentrations in relation to fracture risk after long-term supplementation with...

Research

Exposure to pesticides and the risk of childhood brain tumors

This Australian case-control study of CBT investigated whether exposures to pesticides before pregnancy, during pregnancy and during childhood, were...

Research

Sex-stratified Genome-wide Association Studies Including 270,000 Individuals Show Sexual Dimorphism in Genetic Loci for Anthropometric Traits

Our results demonstrate the value of sex-specific GWAS to unravel the sexually dimorphic genetic underpinning of complex traits.

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Exposure to household painting and floor treatments, and parental occupational paint exposure and risk of childhood brain tumors

This study investigated whether household exposure to paints and floor treatments and parental occupational painting were associated with CBT risk...

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Hypertensive diseases of pregnancy predict parent-reported difficult temperament in infancy

These data suggest that the link between maternal hypertensive diseases of pregnancy and child behavioral development begins in the first year of life.