Plos One
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Ongoing studies using genomic microarrays and next-generation sequencing have demonstrated that the genetic contributions to cardiovascular diseases have been significantly ignored in the past. The aim of this study was to identify rare copy number variants in individuals with congenital pulmonary atresia (PA). ⋯ Rare CNVs contribute to the pathogenesis of PA (9.8%), suggesting that the causes of PA are heterogeneous and pleiotropic. Together with previous data from animal models, our results might help identify a link between CHD and folate-mediated one-carbon metabolism (FOCM). With the accumulation of high-resolution SNP array data, these previously undescribed rare CNVs may help reveal critical gene(s) in CHD and may provide novel insights about CHD pathogenesis.
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The effectiveness of comprehensive stroke center (CSC) capabilities on stroke mortality remains uncertain. We performed a nationwide study to examine whether CSC capabilities influenced in-hospital mortality of patients with ischemic and hemorrhagic stroke. ⋯ CSC capabilities were associated with reduced in-hospital mortality rates, and relevant aspects of care were found to be dependent on stroke type.
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The substantial use of social network sites by teenagers has raised concerns about privacy and security. Previous research about behavior on social network sites was mostly based on surveys and interviews. Observational research overcomes problems inherent to this research method, for example social desirability. ⋯ Moreover, older teenagers and girls post more (risky) information while there are no differences in applying privacy settings. We found no differences in the Facebook behavior of teenagers enrolled in different education forms. Implications of these results are discussed.
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Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant neurodegenerative disease characterized by loss of motor coordination and retinal degeneration with no current therapies in the clinic. The causative mutation is an expanded CAG repeat in the ataxin-7 gene whose mutant protein product causes cerebellar and brainstem degeneration and retinal cone-rod dystrophy. ⋯ We observed a preservation of normal retinal function and no adverse toxicity with ≥50% reduction of mutant and wildtype ataxin-7 alleles. These studies address an important safety concern regarding non-allele specific silencing of ataxin-7 for SCA7 retinal therapy.
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The expected growth in NCDs in cities is one of the most important health challenges of the coming decades in Sub-Saharan countries. This paper aims to fill the gap in our understanding of socio-economic differentials in NCD mortality and risk in low and middle income neighborhoods in urban Africa. We use data collected in the Ouagadougou Health and Demographic Surveillance System. 409 deaths were recorded between 2009-2011 among 20,836 individuals aged 35 years and older; verbal autopsies and the InterVA program were used to determine the probable cause of death. ⋯ Muslim individuals are less likely to be smokers or heavy drinkers, but have a higher blood pressure. Everything else being constant, individuals living in formal neighborhoods are more often overweight. The data presented make clear the pressing need to develop effective programs to reduce NCD risk across all types of neighborhoods in African cities, and suggest several entry points for community-based prevention programs.