Plos One
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Mutations in a novel gene, UBIAD1, were recently found to cause the autosomal dominant eye disease Schnyder corneal dystrophy (SCD). SCD is characterized by an abnormal deposition of cholesterol and phospholipids in the cornea resulting in progressive corneal opacification and visual loss. We characterized lesions in the UBIAD1 gene in new SCD families and examined protein homology, localization, and structure. ⋯ Accumulating evidence from the SCD familial mutation spectrum, protein homology across species, and molecular modeling suggest that protein function is likely down-regulated by SCD mutations. Mitochondrial UBIAD1 protein appears to have a highly conserved function that, at least in humans, is involved in cholesterol metabolism in a novel manner.
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Multicenter Study
Risk factors for SARS transmission from patients requiring intubation: a multicentre investigation in Toronto, Canada.
In the 2003 Toronto SARS outbreak, SARS-CoV was transmitted in hospitals despite adherence to infection control procedures. Considerable controversy resulted regarding which procedures and behaviours were associated with the greatest risk of SARS-CoV transmission. ⋯ Close contact with the airway of severely ill patients and failure of infection control practices to prevent exposure to respiratory secretions were associated with transmission of SARS-CoV. Rates of transmission of SARS-CoV varied widely among patients.
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Altering the normal association between touch and its visual correlate can result in the illusory perception of a fake limb as part of our own body. Thus, when touch is seen to be applied to a rubber hand while felt synchronously on the corresponding hidden real hand, an illusion of ownership of the rubber hand usually occurs. The illusion has also been demonstrated using visuomotor correlation between the movements of the hidden real hand and the seen fake hand. This type of paradigm has been used with respect to the whole body generating out-of-the-body and body substitution illusions. However, such studies have only ever manipulated a single factor and although they used a form of virtual reality have not exploited the power of immersive virtual reality (IVR) to produce radical transformations in body ownership. ⋯ The results support the notion that bottom-up perceptual mechanisms can temporarily override top down knowledge resulting in a radical illusion of transfer of body ownership. The research also illustrates immersive virtual reality as a powerful tool in the study of body representation and experience, since it supports experimental manipulations that would otherwise be infeasible, with the technology being mature enough to represent human bodies and their motion.
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Alzheimer's disease (AD) is characterized by the deposition of aggregated beta-amyloid (Abeta), which triggers a cellular stress response called the unfolded protein response (UPR). The UPR signaling pathway is a cellular defense system for dealing with the accumulation of misfolded proteins but switches to apoptosis when endoplasmic reticulum (ER) stress is prolonged. ER stress is involved in neurodegenerative diseases including AD, but the molecular mechanisms of ER stress-mediated Abeta neurotoxicity still remain unknown. ⋯ Knockdown of PERK enhances Abeta neurotoxicity through reducing the activation of eIF2alpha and Grp8/Bip in neurons. Salubrinal, an activator of the eIF2alpha pathway, significantly increased the Grp78/Bip ER chaperone resulted in attenuating caspase-4 dependent apoptosis in Abeta treated neurons. These results indicate that PERK-eIF2alpha pathway is a potential target for therapeutic applications in neurodegenerative diseases including AD.
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Endovascular technique has benefits vis-a-vis surgical access to organs with less accessible anatomical locations. To minimize surgical risk we propose a novel endovascular technique, to create parenchymal access through endovascular methods. ⋯ We have developed and tested a new system for transvascular tissue access in simulations, ex vivo and in vivo in small and large animals, integrating it with standard clinical catheters and angiographical environment, with absolute hemostasis and without thromboembolic complications. In a clinical setting for stem cell transplantation, local substance administration or tissue sampling, the benefit should be greatest in organs that are difficult or high-risk to access with other techniques, such as the pancreas, the central nervous system (CNS) and the heart.