24 research outputs found

    CIBERER : Spanish national network for research on rare diseases: A highly productive collaborative initiative

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    Altres ajuts: Instituto de Salud Carlos III (ISCIII); Ministerio de Ciencia e Innovación.CIBER (Center for Biomedical Network Research; Centro de Investigación Biomédica En Red) is a public national consortium created in 2006 under the umbrella of the Spanish National Institute of Health Carlos III (ISCIII). This innovative research structure comprises 11 different specific areas dedicated to the main public health priorities in the National Health System. CIBERER, the thematic area of CIBER focused on rare diseases (RDs) currently consists of 75 research groups belonging to universities, research centers, and hospitals of the entire country. CIBERER's mission is to be a center prioritizing and favoring collaboration and cooperation between biomedical and clinical research groups, with special emphasis on the aspects of genetic, molecular, biochemical, and cellular research of RDs. This research is the basis for providing new tools for the diagnosis and therapy of low-prevalence diseases, in line with the International Rare Diseases Research Consortium (IRDiRC) objectives, thus favoring translational research between the scientific environment of the laboratory and the clinical setting of health centers. In this article, we intend to review CIBERER's 15-year journey and summarize the main results obtained in terms of internationalization, scientific production, contributions toward the discovery of new therapies and novel genes associated to diseases, cooperation with patients' associations and many other topics related to RD research

    Outcomes from elective colorectal cancer surgery during the SARS-CoV-2 pandemic

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    This study aimed to describe the change in surgical practice and the impact of SARS-CoV-2 on mortality after surgical resection of colorectal cancer during the initial phases of the SARS-CoV-2 pandemic

    Redescription of Mactra bonariensis Philippi, 1893 and designation of a neotype

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    During an ongoing revision of the ParanĂĄ Formation fauna of Argentina, the taxonomic status of Mactra bonariensis Philippi, 1893, was reassessed. The morphological characters of M. bonariensis provided in the original description and illustration do not allow clear delimitation of the species. The absence of type material of this species, coupled with difficulties in resampling the type locality due to urbanization, necessitates designation of a neotype. No records of this taxon were found in palaeontological and malacological collections. However, material collected from the ParanĂĄ Formation at 'La Juanita' (Entre RĂ­os, Argentina) comes from beds equivalent to those exposed at the locality from which Philippi described the original material. As this species may be confused with Quaternary and extant species from the region, a redescription is provided and a neotype designated.Fil: PĂ©rez, Leandro MartĂ­n. Universidad Nacional de La Plata. Facultad de Ciencias Naturales y Museo. DivisiĂłn PaleozoologĂ­a Invertebrados; Argentina. Consejo Nacional de Investigaciones CientĂ­ficas y TĂ©cnicas; ArgentinaFil: Signorelli, Javier Hernan. Consejo Nacional de Investigaciones CientĂ­ficas y TĂ©cnicas. Centro CientĂ­fico TecnolĂłgico Conicet - Centro Nacional PatagĂłnico; Argentin
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