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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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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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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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Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multipleDissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21We performed...
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P2X7 receptor-mediated killing of an intracellular parasite, Toxoplasma gondii, by human and murine macrophagesThe P2X7R is highly expressed on the macrophage cell surface, and activation of infected cells by extracellular ATP has been shown to kill intracellular bacte
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Mothers' and Fathers' Work Hours, Child Gender, and Behavior in Middle ChildhoodThis study examined the association between typical parental work hours (including nonemployed parents) and children's behavior in two-parent heterosexual...
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Boosting airway T-regulatory cells by gastrointestinal stimulation as a strategy for asthma controlThe hallmark of atopic asthma is transient airways hyperresponsiveness (AHR) preceded by aeroallergen-induced Th-cell activation.
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Variability in paediatric outcomes within wealthy countriesOverall rates of preterm birth have remained fairly static over the last two decades, inequalities between Aboriginal & non-Aboriginal infants have increased
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Vitamin D and atopy and asthma phenotypes in children: a longitudinal cohort studyVitamin D has been linked in some studies with atopy- and asthma-associated phenotypes in children with established disease,but its role in disease inception...
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Efficacy of Health Literacy Interventions for Caregivers of Individuals with Neurodevelopmental and Chronic Conditions: A Rapid ReviewCaregivers of individuals with neurodevelopmental and chronic health conditions require health literacy (HL) skills for the long-term management of these conditions. The aim of this rapid review was to investigate the efficacy of HL interventions for these caregivers.