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Research

Validating the rett syndrome gross motor scale

The Rett Syndrome Gross Motor Scale could be an appropriate measure of gross motor skills in clinical practice and clinical trials

Research

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

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

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

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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).

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". 

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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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Demographic and clinical predictors of vitamin D status in pregnant women tested for deficiency in Western Australia

This study aimed to describe the vitamin D status of pregnant women in Western Australia and identify predictors of deficiency in pregnancy. A cross-sectional study was conducted using linked data from statewide administrative data collections.

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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

Sense of control and wellbeing decades after exposure to blue asbestos at Wittenoom, Western Australia

The objective of this study was to examine the impact of the knowledge of past asbestos exposure on psychosocial health.