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Cohort Profile: The ORIGINS pregnancy and birth cohortDesiree Dr Jackie Susan Lisa Zenobia Silva Davis Prescott Gibson Talati MBBS, FRACP, MPH, PhD BSc (Hons), PGradDipHlthProm, PhD MBBS BMedSci PhD
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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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Timeliness and factors associated with rotavirus vaccine uptake among Australian Aboriginal and non-Aboriginal children: A record linkage cohort studyAboriginal children are at greater risk of rotavirus disease than non-Aboriginal children and delayed vaccine receipt is substantially higher
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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
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Sex differences between parental pregnancy characteristics and nonalcoholic fatty liver disease in adolescentsWe examined relationships between parental pregnancy-related characteristics and NAFLD in 1,170 adolescent offspring aged 17 years in Raine Cohort Study.
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The Impact of Pneumococcal Vaccination on Bacterial and Viral Pneumonia in Western Australian Children: Record Linkage Cohort Study of 469589 Births, 1996-2012We assessed the impact of PCV on all-cause and pathogen-specific pneumonia hospitalizations in Western Australian (WA) children aged 16 years.
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Environmental enrichment intervention for Rett syndrome: An individually randomised stepped wedge trialWe investigated the effects of environmental enrichment on gross motor skills and blood BDNF levels in girls with Rett syndrome.
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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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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.