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Research

Environmental enrichment intervention for Rett syndrome: An individually randomised stepped wedge trial

We investigated the effects of environmental enrichment on gross motor skills and blood BDNF levels in girls with Rett syndrome.

Research

Aboriginal and non-Aboriginal children in Western Australia carry different serotypes of pneumococci with different antimicrobial susceptibility profiles

Differences in pneumococcal serotypes, genotypes, and antimicrobial susceptibility between Aboriginal and non-Aboriginal children living in the same area

Research

Changing Prevalence of Lower Airway Infections in Young Children with Cystic Fibrosis

Aspergillus species and P. aeruginosa are commonly present in the lower airways from infancy

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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". 

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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).

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Development of a job-exposure matrix (AsbJEM) to estimate occupational exposure to asbestos in Australia

Occupational exposure data on asbestos are limited and poorly integrated in Australia so that estimates of disease risk and attribution of disease causation...

Research

Genetic studies of body mass index yield new insights for obesity biology

To understand the genetic basis of obesity better, here we conduct a genome-wide association study and Metabochip meta-analysis of body mass index (BMI),...

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Blood micronutrients and DNA damage in children

This is the first study to examine the associations between a range of blood micronutrient levels and DNA damage in healthy children.

Research

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...