31 research outputs found

    Retinitis pigmentosa and ocular motility alterations: new frontiers, review

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    Purpose: To carry out a review of the literature on alterations in extraocular motility in Retinitis Pigmentosa (RP), focusing on the possible genetic basis of ocular alterations. Design: Systematic review Methods: The search of publications was carried out using the databases: Scopus, PubMed, Google Scholar, Web of Science, considering clinical cases, case reports, and systematic reviews of ocular motility alterations in the Retinitis Pigmentosa in the literature. The words: “ocular motility alterations, Retinitis Pigmentosa, orthoptic evaluation, case reports, clinical cases, systematic reviews” were used. Results: A total of 2 articles from 2006–2022 were retrieved: No other ocular motility alterations clinical cases linked to RP were found before. Particularly, a study conducted on patients affected by typical RP showed that there was an impaired motility in 50% of them. Since RP is a genetically determined disease, in reference to the studies analyzed, the absence of eye movement disorders in a percentage of the sample could be related to the different penetrance of the disease that determines the existence of healthy carriers. Conclusion: Therefore, it would be important to search for a possible correlation between the genetic mutations involved in this hereditary disorder and the deficits in extraocular motility, in order to make an early diagnosis of RP in genetically predisposed subjects. The existence of alterations of extraocular motility in subjects with RP, indicates that a careful orthoptic screening can allow a further contribution to an early diagnosis of this disease, especially in subjects with positive family history and healthy carriers

    enabling access to astronomical databases through the grid a case study

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    In recent years great efforts have been spent in the astronomical community to allow a global and seamless electronic access to distributed astronomical data repositories, and to enable scientific analysis on them. A system capable of providing these services over distributed databases and computer resources is called a Virtual Observatory (VO). VOs are still in the study phase, with many projects around the world now delivering their first prototype implementations. In the meanwhile grid technologies have started to emerge and consolidate and are now expected to play a fundamental role in the development of Astrophysical Virtual Observatories. We report here about our activities aimed at integrating in the grid environment a system, developed in Padova, specifically designed for accessing very large astronomical catalogues. We evaluated several possible solutions, including the use of a tool for accessing databases developed by the European Data Grid (EDG) project, but finally we decided to adopt a web services based architecture, retaining the security infrastructure provided by the EDG software. We plan to evolve towards an implementation fully compliant with the latest Open Grid Service Architecture specification, but without loosing compatibility with the grid middleware adopted in our project. This work is being conducted in the framework of Grid.it, a project, funded by the Italian Ministry for Education, University and Research, aimed at studying a grid infrastructure for scientific research in Italy and developing specific software tools and protype applications that run on it. This catalogue access system will eventually become one of the first building blocks of the Italian Virtual Observatory, currently under development in the framework of a closely-related project, named DRACO. To this end, starting from the design phase of our system, and where applicable, we adopted the standards set forth by the International Virtual Observatory Alliance (IVOA)

    Noncanonical DNA Cleavage by BamHI Endonuclease in Laterally Confined DNA Monolayers Is a Step Function of DNA Density and Sequence

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    Cleavage of DNA at noncanonical recognition sequences by restriction endonucleases (star activity) in bulk solution can be promoted by global experimental parameters, including enzyme or substrate concentration, temperature, pH, or buffer composition. To study the effect of nanoscale confinement on the noncanonical behaviour of BamHI, which cleaves a single unique sequence of 6 bp, we used AFM nanografting to generate laterally confined DNA monolayers (LCDM) at different densities, either in the form of small patches, several microns in width, or complete monolayers of thiol-modified DNA on a gold surface. We focused on two 44-bp DNAs, each containing a noncanonical BamHI site differing by 2 bp from the cognate recognition sequence. Topographic AFM imaging was used to monitor end-point reactions by measuring the decrease in the LCDM height with respect to the surrounding reference surface. At low DNA densities, BamHI efficiently cleaves only its cognate sequence while at intermediate DNA densities, noncanonical sequence cleavage occurs, and can be controlled in a stepwise (on/off) fashion by varying the DNA density and restriction site sequence. This study shows that endonuclease action on noncanonical sites in confined nanoarchitectures can be modulated by varying local physical parameters, independent of global chemical parameters
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