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Cohort Profile: The ORIGINS pregnancy and birth cohortDesiree Doctor Jackie Susan Lisa Zenobia Silva Davis Prescott Gibson Talati MBBS, FRACP, MPH, PhD BSc (Hons) MBBS BMedSci PhD FRACP BA (Hons), MPsych
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Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseasesGenetic 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 fibrosisNewly 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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Acceptability of OP/Na swabbing for SARS-CoV-2: a prospective observational cohort surveillance study in Western Australian schoolsWhen 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 AustraliaThis 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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Comorbidities and quality of life in children with intellectual disabilityMany children with intellectual disability live with medical comorbidities. This study examined the impacts of comorbidities on quality of life (QOL) of children with intellectual disabilities and whether impacts varied with caregiver perceptions that medical needs had been met.
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DETECT Schools Study Protocol: A Prospective Observational Cohort Surveillance Study Investigating the Impact of COVID-19 in Western Australian SchoolsAmidst the evolving COVID-19 pandemic, understanding the transmission dynamics of the SARS-CoV-2 virus is key to providing peace of mind for the community and informing policy-making decisions. While available data suggest that school-aged children are not significant spreaders of SARS-CoV-2, the possibility of transmission in schools remains an ongoing concern, especially among an aging teaching workforce. Even in low-prevalence settings, communities must balance the potential risk of transmission with the need for students' ongoing education.
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Association between diesel engine exhaust exposure and lung function in Australian gold minersDiesel engine exhaust exposures were higher in underground miners and had a negative association with their lung function over a single 12-h shift
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Pregnancy and birth outcomes of mothers with intellectual disability and their infants: Advocacy needed to improve well-beingFor mothers with intellectual disability, modifiable risk factors for adverse outcomes need addressing
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Changing Prevalence of Lower Airway Infections in Young Children with Cystic FibrosisAspergillus species and P. aeruginosa are commonly present in the lower airways from infancy