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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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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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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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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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Are low sun exposure and/or Vitamin D risk factors for type 1 diabetesEvidence supports that higher sun exposure and/or vitamin D sufficiency in pregnancy, or supplementation in early life, decreases type 1 diabetes risk
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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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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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The western dietary pattern is prospectively associated with nonalcoholic fatty liver disease in adolescenceIn centrally obese adolescents with NAFLD, a healthy dietary pattern may be protective, whereas a Western dietary pattern may increase the risk.
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Cancer incidence and mortality among underground and surface goldminers in Western AustraliaOverall cancer mortality and incidence was higher among Western Australian goldminers compared with the general male population, particularly for underground...