46 research outputs found

    Viejos y nuevos conflictos en Centroamérica: el diario drama humano de las víctimas de la violencia

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    No English AbstractEl creciente número de solicitudes de protección internacional interpuestas por centroamericanos amenazados por estructuras vinculadas con pandillas y crimen organizado ha hecho necesario aclarar y ampliar la interpretación de la definición de refugiado contenida en la Convención para el Estatuto de los Refugiados de 1951. Nuevos escenarios de violencia marcan dramas humanos comparables a los vividos durante la conflictividad armada en la problemática de desplazamiento interno y migración forzada de víctimas de violencia generalizada y crimen organizado en la región

    Aplicación de la secuenciación masiva de dna al diagnóstico de los defectos congénitos de glicosilación y de glucogenosis

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    Tesis Doctoral inédita leída en la Universidad Autónoma de Madrid, Facultad de Ciencias, Departamento de Biología Molecular. Fecha de lectura: 09-03-2017Up to now, genetic analysis of human inherited diseases is based on gene-by-gene Sanger sequencing. In locus-heterogeneous disorders, genes are sequenced according to their population frequency after performing time-consuming cellular and/or biochemical assays in an attempt to reduce to a single or a small group of candidate genes to be analyzed. In order to improve the genetic diagnosis of congenital disorders of glycosylation (CDG) and glycogen storage diseases (GSD), two locus-heterogeneous disorders affecting the glycosylation pathways or the enzymes involved in the glycogen metabolism respectively, we applied the cutting-edge DNA next-generation sequencing (NGS) technology. We have evaluated three different NGS-based tests to analyze 39 CDG and 47 GSD suspected patients. First, we captured the exome of targeted genes (TES) previously described to be associated to CDG or GSD. Diagnosis rate of the customized CDG panel was low probably due to the limited number of genes captured of this emerging disorder. In order to improve the diagnosis rate of both diseases, we captured the whole exome (whole-exome sequencing, WES) or the exome of genes associated with human genetic diseases as annotated in OMIM database (clinical exome sequencing, CES). Both tests were used to broaden the number of analyzable genes beyond those already described, allowing the detection of mutations in non-CDG or GSD-associated genes causing symptoms that might overlap with them. Besides, using WES we identified mutations in a new gene not associated to any disease so far. Additionally, NGS showed higher sensibility than Sanger sequencing since it avoided allele dropout in two samples and allowed the detection of a copy number variation in ALG1. Moreover, it is noteworthy the accuracy and sensibility of the technology in the detection of variants located in genes with high sequence-homology, such as ALG1. Overall, we reached a genetic diagnosis of approximately 50% of the patients analyzed. In CDG, we identified 23 variants, 12 of them novel, in 13 previously described CDG-genes. Furthermore, we described a new CDG-gene not associated to any human pathology so far (CCDC115). Comprehensive functional studies performed on the patient-derived fibroblasts indicated that the protein codified by CCDC115 is probably involved in the Golgi homeostasis, impairing protein glycosylation. In GSD we identified 23 changes, 10 of them novel, in 6 already-described genes. Besides, we identified an overall of six patients bearing mutations in genes not associated to the initially suspected disease. The accurate genetic diagnosis allowed in five patients to undergo an accurate tailored treatment improving their outcome. Summing up, our results highlight the usefulness of NGS to be applied to the diagnosis of two locus-heterogeneous disorders. It is noteworthy that an accurate genetic diagnosis is needed to provide a genetic counseling, to prescribe tailored treatments and to provide insights to guide research towards new therapies based on the mechanism of actions of the mutations identified (precision medicine)

    Selección Del Talento Humano y Su Influencia Sobre El Buen Desempeño Laboral en La Municipalidad Distrital De Carmen De La Legua-Reynoso, 2017

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    El presente trabajo de investigación, Selección del talento humano y su influencia sobre el buen desempeño laboral en la Municipalidad Distrital de Carmen de la Legua-Reynoso, 2017; tiene como objetivo general determinar el nivel de relación que existe entre ambas variables, la selección del talento humano y el desempeño laboral de los trabajadores administrativos. El desarrollo de este trabajo constituirá una fuente de información muy útil para dar a conocer las causas de la problemática actual que se viene suscitando en esta institución y por ende se pretende, contribuir a mejorar la gestión del talento humano en las instituciones públicas; el cual debe ser considerado como el activo fijo más importante de una organización y como algo único y primordial en el desarrollo de la gestión de toda empresa y/o institución. Las personas que prestan servicio en la administración pública, se encuentran envejecidas, poco motivadas y valoradas de manera negativa por los ciudadanos; lo que conlleva a la conclusión de implementar una política pública con el fin de que permita un mejor desarrollo de la gestión del talento humano, con el propósito de alcanzar la satisfacción, motivación y por ende contar con trabajadores efectivos, calificados y con el don del servicio al ciudadano. Por otro lado, de acuerdo al estudio del World Value Survey (2012), “el 76% de la ciudadanía, considera que los servidores del sector público no generan confianza”. Las convocatorias no muestran transparencia, ya que no promueven condiciones de igualdad y no guarda relación con el nivel de mérito, a su vez los funcionarios consideran que los concursos para ocupar cargos en el estado no mejorarían la función pública. La Municipalidad Distrital de Carmen de la Legua – Reynoso, es una institución gubernamental local, ubicada en la región Callao, cuya finalidad es administrar los recursos que ésta posee, por lo tanto requiere del talento humano competente y eficiente v para que se ejecuten los programas y actividades planeadas con objetividad y dar fiel cumplimiento a lo estipulado; sin embargo estos objetivos no son cumplidos, pues la institución carece del personal capacitado y apto para desarrollar las labores propias y específicas del puesto que ocupan, debido a la ausencia de un eficaz proceso de selección, lo que refleja un desempeño deficiente de la gestión municipal, cuyas exigencias públicas son la mejora e innovación. De la investigación se desprende que, el sector afronta dos desafíos, la conformación de una fuerza de trabajo que tenga como finalidad responder con calidad a las necesidades del estado y la sociedad y la vinculación de los mejores talentos, especialización en los puestos de trabajo, trabajar políticas de retención de funcionarios de alto desempeño y desarrollar estrategias que reflejen y valoren positivamente a los servidores y a las entidades.The present research work Selection of human talent and its influence on good work performance in the District Municipality of Carmen de la Legua - Reynoso, 2017; Its general objective is to determine the level of relationship that exists between both variables, the selection of human talent and the job performance of administrative workers. The development of this work will be a very useful source of information to raise awareness of the causes of the current problems that are arising in this institution and therefore is intended to contribute to improving the management of human talent in public institutions; which should be considered as the most important fixed asset of an organization and as something unique and essential in the development of the management of any company and / or institution. People who serve in the public administration, are aged, poorly motivated and valued in a negative way by citizens; what leads to the conclusion of implementing a public policy in order to allow a better development of the management of human talent, with the purpose of achieving satisfaction, motivation and therefore have effective, qualified workers and with the gift of service to the citizen. On the other hand, according to the study of the World Value Survey (2012), "76% of citizens consider that public sector servers do not generate trust". The announcements do not show transparency, since they do not promote conditions of equality and is not related to the level of merit, in turn the officials consider that the competitions to occupy positions in the state would not improve the public function. The District Municipality of Carmen de la Legua - Reynoso, is a local governmental institution, located in the Callao region, whose purpose is to administer the resources that it possesses, therefore it requires competent and efficient human talent so that the programs and planned activities with objectivity and faithful compliance with the vii stipulated; However, these objectives are not met, because the institution lacks the trained and qualified personnel to carry out the specific tasks of the position they occupy, due to the absence of an effective selection process, which reflects poor performance of municipal management , whose public demands are improvement and innovation. The research shows that the sector faces two challenges, the creation of a workforce that aims to respond with quality to the needs of the state and society and the bonding of the best talents, specialization in jobs, to work with the retention policies of high performance officers and develop strategies that reflect and positively value the servers and the entities.Trabajo de investigació

    The advantages of disposable screen-printed biosensors in a bioelectronic tongue for the analysis of grapes

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    Producción CientíficaDisposable screen-printed sensors have been modified with enzymes and used to form a bioelectronic tongue dedicated to the discrimination between different grape varieties. The multisensory system combined serigraphied electrodes modified with carbon, platinum, gold, graphene, Prussian blue and nickel oxide nanoparticles (M-SPE) covered with glucose oxidase (M-GOX-SPE) or tyrosinase (M-Tyr-SPE). The M-GOX-SPE and M-Tyr-SPE sensors produced a variety of responses due to the different behavior of the electron mediators of the six screen-printed materials used for the electro-catalysis of the glucose and phenols by means of glucose oxidase and tyrosinase. This variety of responses, together with the capability of the sensors to detect glucose or phenols, allowed the bioelectronic tongue developed here to discriminate between the juices obtained from different varieties of grape. Partial least-squares (PLS-1) multivariate calibration of electrochemical data has been successfully applied to the simultaneous determination of glucose and polyphenols in musts. The discrimination capability shown by this array of cheap and single-use sensors was similar to that found in other complex bioelectronic tongues. The lower price, ease of use and portability of the modified screen-printed electrode system makes the bioelectronic tongue developed here an alternative tool that can be used in situ in the vineyard block.Ministerio de Economía, Industria y Competitividad – FEDER (Grant CICYT AGL2012-33535)Junta de Castilla y León (programa de apoyo a proyectos de investigación - Ref. VA-032U13)University of Valladolid (PIF-UVa

    A different approach for the analysis of grapes: Using the skin as sensing element

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    In this work, an alternative method to monitor the phenolic maturity of grapes was developed. In this approach, the skins of grapes were used to cover the surface of carbon paste electrodes and the voltammetric signals obtained with the skin-modified sensors were used to obtain information about the phenolic content of the skins. These sensors could easily detect differences in the phenolic composition of different Spanish varieties of grapes (Mencía, Prieto Picudo and Juan García). Moreover, sensors were able to monitor changes in the phenolic content throughout the ripening process from véraison until harvest.2020-07-092020-07-0

    Informe de la salud visual y ocular de los países que conforman la Red Epidemiológica Iberoamericana para la Salud Visual y Ocular (REISVO), 2009 y 2010

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    Según las estimaciones más recientes de la Organización Mundial de la Salud (OMS), cerca de 314 millones de personas en el mundo presentan discapacidad visual, debido a enfermedades oculares o a errores de refracción no corregidos. De estas personas, 45 millones son ciegos y el 90 % vive en países con ingresos bajos. Las principales causas de ceguera son catarata (39 %), errores refractivos no corregidos (18 %), glaucoma (10 %), degeneración macular asociada a la edad (7 %), opacidad corneal (4 %), retinopatía diabética (4 %), tracoma (3 %), afecciones oculares infantiles (3 %) y oncocercosis (0,7 %)

    Informe de la salud visual y ocular de los países que conforman la Red Epidemiológica Iberoamericana para la Salud Visual y Ocular (REISVO), 2009 y 2010

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    A pesar de que se han hecho importantes progresos en el cuidado de la salud ocular, la prevalencia de la ceguera evitable sigue siendo inaceptablemente alta en muchos países y comunidades (OMS, 2009). La salud visual es un tema de la agenda política en algunos países; sin embargo, aún no se cuenta con un sistema de información que permita identificar la situación de morbilidad en salud visual en Iberoamérica, para poder priorizar y planificar la orientación de los servicios de atención en optometría y oftalmología. Para que existan planes de salud, deben establecerse líneas de base a través de un diagnóstico epidemiológico y de necesidades de la población; por esta razón, REISVO ha desarrollado, en esta primera fase, una descripción retrospectiva de la frecuencia y distribución de las alteraciones visuales y oculares, para lo cual ha tenido en cuenta que los errores refractivos son la segunda causa de ceguera prevenible y la primera de las deficiencias visuales.Facultad de Ciencias Exacta

    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

    Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2

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    The pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2, COVID-19) had an estimated overall case fatality ratio of 1.38% (pre-vaccination), being 53% higher in males and increasing exponentially with age. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, we found 133 cases (1.42%) with detectable clonal mosaicism for chromosome alterations (mCA) and 226 males (5.08%) with acquired loss of chromosome Y (LOY). Individuals with clonal mosaic events (mCA and/or LOY) showed a 54% increase in the risk of COVID-19 lethality. LOY is associated with transcriptomic biomarkers of immune dysfunction, pro-coagulation activity and cardiovascular risk. Interferon-induced genes involved in the initial immune response to SARS-CoV-2 are also down-regulated in LOY. Thus, mCA and LOY underlie at least part of the sex-biased severity and mortality of COVID-19 in aging patients. Given its potential therapeutic and prognostic relevance, evaluation of clonal mosaicism should be implemented as biomarker of COVID-19 severity in elderly people. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, individuals with clonal mosaic events (clonal mosaicism for chromosome alterations and/or loss of chromosome Y) showed an increased risk of COVID-19 lethality
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