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Research
Using directed-content analysis to identify a framework for understanding quality of life in adults with Rett syndromeRett syndrome (RTT) is a rare neurodevelopmental disorder mainly affecting females and is caused by a mutation in the MECP2 gene. Recent research identified the domains of quality of life (QOL) important for children with RTT but there has been no investigation of domains important for adults. This qualitative study explored QOL in adults with RTT and compared domains with those previously identified for children.
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Six Months of Hybrid Closed-Loop Versus Manual Insulin Delivery With Fingerprick Blood Glucose Monitoring in Adults With Type 1 Diabetes: A Randomized, Controlled TrialTo investigate glycemic and psychosocial outcomes with hybrid closed-loop (HCL) versus user-determined insulin dosing with multiple daily injections (MDI) or insulin pump (i.e., standard therapy for most adults with type 1 diabetes). Adults with type 1 diabetes using MDI or insulin pump without continuous glucose monitoring (CGM) were randomized to 26 weeks of HCL (Medtronic 670G) or continuation of current therapy.
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Probabilistic linkage of national immunisation and state-based health records for a cohort of 1.9 million births to evaluate Australia’s childhood immunisation programTo describe the process for assembling a linked study that will enable the conduct of population-based studies related to immunisation and immunisation policy.
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Evaluation of age-dependent treatment strategies for children and young adults with pineoblastoma: Analysis of pooled European Society for Paediatric Oncology (SIOP-E) and US Head Start dataPineoblastoma is a rare pineal region brain tumor. Treatment strategies have reflected those for other malignant embryonal brain tumors.
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Mental health problems among 4–17-year-olds with hearing problems: results from a nationally representative studyClinicians caring for children and young people with hearing problems should be alert for heightened risk of specific mental health problems based on age and the nature of hearing problems.
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A Phase I Study of the CDK4/6 Inhibitor Ribociclib (LEE011) in Pediatric Patients with Malignant Rhabdoid Tumors, Neuroblastoma, and Other Solid TumorsIn this. i study the MTD and RP2D, safety, PK, and preliminary activity of single-agent ribociclib were investigated in patients with neuroblastoma.
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Early introduction of food reduces food allergy – Pro and ConWhen an infant is developmentally ready, a variety of nutritious foods should be introduced including the ‘more allergenic’ foods during infancy
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The collective impact of rare diseases in Western Australia: An estimate using a population-based cohortThis cohort study provides new evidence of a disparity between the proportion of the population with rare diseases and their combined health-system costs
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Prevalence of microcephaly in an Australian population-based birth defects register, 1980-2015We identified a high proportion of cases without known cause, highlighting the need for clinicians to carefully investigate all possibilities, including emerging infections.
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Initiating an undiagnosed diseases program in the Western Australian public health systemWe describe the initiation and summary outcomes of a public health system approach for complex undiagnosed patients- the Undiagnosed Diseases Program - WA