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EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMOEllis van Creveld syndrome and Weyers acrofacial dysostosis are two rare genetic diseases affecting skeletal development. They are both ciliopathies, as they are due to malfunction of primary cilia, microtubule-based plasma membrane protrusions that function as cellular antennae and are required for Hedgehog signaling, a key pathway during skeletal morphogenesis.
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Research opportunities for the primordial prevention of rheumatic fever and rheumatic heart disease - streptococcal vaccine development: a national heart, lung and blood institute workshop reportStreptococcus pyogenes, also known as group A streptococcus (StrepA), is a bacterium that causes a range of human diseases, including pharyngitis, impetigo, invasive infections, and post-infection immune sequelae such as rheumatic fever and rheumatic heart disease. StrepA infections cause some of the highest burden of disease and death in mostly young populations in low-resource settings. Despite decades of effort, there is still no licensed StrepA vaccine, which if developed, could be a cost-effective way to reduce the incidence of disease.Â
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Accuracy of self-reported private health insurance coverageStudies on health insurance coverage often rely on measures self-reported by respondents, but the accuracy of such measures has not been thoroughly validated. This paper is the first to use linked Australian National Health Survey and administrative population tax data to explore the accuracy of self-reported private health insurance (PHI) coverage in survey data.
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Evaluation Tools Developed for Rett SyndromeRett syndrome (RTT) is a complex neurodevelopmental X-linked disorder associated with severe functional impairments and multiple comorbidities. There is wide variation in the clinical presentation, and because of its unique characteristics, several evaluation tools of clinical severity, behavior, and functional motor abilities have been proposed specifically for it.
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Intention to Engage in Alcohol Use during Pregnancy: The Role of Attitudes and PrototypesThere is no known risk-free level of alcohol use in pregnancy. Despite this, many still believe that occasional drinking is safe. To-date, there is limited evidence of the influences on women's decisions about low to moderate alcohol use in pregnancy.
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Histo-blood group antigen profile of Australian Aboriginal children and seropositivity following oral rotavirus vaccinationHisto-blood group antigens (HBGAs) may influence immune responses to rotavirus vaccination.
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The relationship between parental mental health, reflective functioning coparenting and social emotional development in 0-3 year old childrenThe transition to parenthood is a high-risk period for many parents and is an important period for child development. Research has identified that parental mental health, reflective functioning (capacity to consider mental states of oneself and others) and coparenting (capacity to work together well as a parenting team) may be particularly significant predictors of later child outcomes, however these factors have seldom been considered together.
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Prognostication of treatment non-compliance among patients with multidrug-resistant tuberculosis in the course of their follow-up: a logistic regression–based machine learning algorithmDrug compliance is the act of taking medication on schedule or taking medication as prescribed and obeying other medical instructions. It is the most crucial aspect in the treatment of chronic diseases particularly for patients with multidrug-resistant tuberculosis (MDR-TB). Drug non-compliance is the main reason for causing drug resistance and poor treatment outcomes.
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Genetic variants of TLR4, including the novel variant, rs5030719, and related genes are associated with susceptibility to clinical malaria in African childrenMalaria is a deadly disease caused by Plasmodium spp. Several blood phenotypes have been associated with malarial resistance, which suggests a genetic component to immune protection.
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Estimated dietary intake of polyphenols from cereal foods and associated lifestyle and demographic factors in the Melbourne Collaborative Cohort StudyCereal foods are consumed globally and are important sources of polyphenols with potential health benefits, yet dietary intakes are unclear. We aimed to calculate the dietary intakes of polyphenols from cereal foods in the Melbourne Collaborative Cohort Study, and describe intakes by demographic and lifestyle factors.