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Affecting approximately 400 people in Australia, Rett syndrome is a rare neurological disorder that occurs almost exclusively in girls and affects mobility and development, impacting everything from walking and talking to eating and breathing.
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Parental perspectives on the communication abilities of their daughters with Rett syndromeHow females with Rett syndrome communicate in everyday life and the barriers and facilitators to successful communication
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Randomized controlled trial of early regular egg intake to prevent egg allergyWe aimed to determine whether regular consumption of egg protein from 4-6 month old reduced the risk of IgE-mediated egg allergy in infants without eczema.
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Repeated vaccination does not appear to impact upon influenza vaccine effectiveness against hospitalization with confirmed influenzaThese findings reinforce current recommendations for annual influenza vaccination, particularly those at greatest risk of influenza disease.
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A Method to Exploit the Structure of Genetic Ancestry Space to Enhance Case-Control StudiesThese results highlight how UNICORN can enable reliable, powerful, and convenient genetic association analyses without access to the individual-level data
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Optimization is required when using linked hospital and laboratory data to investigate respiratory infectionsChart review to validate linked microbiological data
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The gut microbiota and inflammatory noncommunicable diseases: Associations and potentials for gut microbiota therapiesThis article discusses the relationships between gut colonization & inflammatory noncommunicable diseases, in regards to their treatment and prevention.
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CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural inductionAn estimated 3.5%-5.9% of the global population live with rare diseases, and approximately 80% of these diseases have a genetic cause. Rare genetic diseases are difficult to diagnose, with some affected individuals experiencing diagnostic delays of 5-30 years. Next-generation sequencing has improved clinical diagnostic rates to 33%-48%. In a majority of cases, novel variants potentially causing the disease are discovered.
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Elevated leukotriene B4 and 8-isoprostane in exhaled breath condensate from preterm-born infantsInflammation and oxidative stress play a key role in the development of bronchopulmonary dysplasia (BPD), possibly contributing to persistent respiratory morbidity after preterm birth. We aimed to assess if inflammatory markers were elevated in exhaled breath condensate (EBC) of infants born very prematurely (< 32 weeks gestation) at 12-16 corrected months of age, and if increased levels were associated with BPD diagnosis and respiratory morbidity.
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Medulloblastoma therapy generates risk of a poorly-prognostic H3 wild-type subgroup of diffuse intrinsic pontine glioma: a report from the International DIPG RegistryThese findings provide a compelling argument for efforts to reduce exposure of the brainstem in the treatment of medulloblastoma