77 research outputs found

    A Large Case-Control Study Performed in Spanish Population Suggests That RECQL5 Is the Only RECQ Helicase Involved in Breast Cancer Susceptibility.

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    Around 50% of the familial breast cancer (BC) cases are estimated to be caused by germline variants in known low-, moderate-, and high-risk susceptibility genes, while the other half is of unknown genetic origin. In the present study, we wanted to evaluate the role of the RECQ helicases, some of which have been studied in the past as candidates, with unclear results about their role in the disease. Using next-generation sequencing (NGS) technology, we analyzed the whole coding sequence of BLM, RECQL1, RECQL4, RECQL5, and WRN in almost 2000 index cases from BC Spanish families that had previously tested negative for the known BC susceptibility genes (BRCAX) and compared the results with the controls extracted from gnomAD. Our results suggest that BLM, RECQL1, RECQL4, and WRN do not play a major role in BC susceptibility. However, in the combined analysis, joining the present results with those previously reported in a series of 1334 BC Spanish patients and controls, we found a statistically significant association between Loss of Function (LoF) variants in RECQL5 and BC risk, with an OR of 2.56 (p = 0.009; 95% CI, 1.18-4.98). Our findings support our previous work and places the RECQL5 gene as a new moderate-risk BC gene.A.O. is partially funded by FIS PI19/00640 supported by FEDER funds and the Spanish Network on Rare Diseases (CIBERER). M.d.l.H. is partially funded by FIS PI20/00110 supported by FEDER funds.S

    The use of interactive response systems as a tool to favor proactive learning in Engineering

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    El desarrollo de las tecnologĂ­as de la informaciĂłn y la comunicaciĂłn (TIC) ha permitido el surgimiento de herramientas didĂĄcticas en el campo de la educaciĂłn, proporcionando herramientas prĂĄcticas para apoyar a las clases presenciales. En este contexto, los sistemas electrĂłnicos de respuesta estudiantil pueden ser Ăștiles para introducir un elemento tecnolĂłgico motivador en las lecciones, asĂ­ como una nueva metodologĂ­a. En este estudio, ademĂĄs del uso de los sistemas de respuesta interactiva o clickers, se ha introducido la tecnologĂ­a de aprendizaje mĂłvil mediante la elaboraciĂłn de una metodologĂ­a de uso de las herramientas Kahoot y Telegram en la asignatura "Fundamentos FĂ­sicos en la IngenierĂ­a II" del Grado en IngenierĂ­a ElectrĂłnica Industrial. El Departamento de FĂ­sica Aplicada de la Universidad de CĂłrdoba tiene una amplia experiencia en el uso de Clickers en clases teĂłricas con grupos grandes para diferentes grados universitarios, pero ahora el uso de tecnologĂ­as mĂłviles de aprendizaje se ha introducido en grupos de tamaño medio para clases prĂĄcticas. Usando esta nueva metodologĂ­a, los estudiantes de grupos medianos realizan un cuestionario durante la lecciĂłn de resoluciĂłn de problemas, donde utilizaron sus conocimientos adquiridos durante la clase. La realizaciĂłn del cuestionario permite a los profesores evaluar en tiempo real el nivel del estudiante y utilizar la retroalimentaciĂłn para abordar los problemas iniciales y los malentendidos. Los resultados muestran que los sistemas de respuesta interactiva son altamente valorados por los estudiantes, que lo perciben como una herramienta para mejorar el aprendizaje y aumentar la competencia en el aula.The development of information and communication technologies (ICT) has enabled the emergence of teaching tools in the education field, providing practical tools to support face-to-face classes. In this context, electronic student response systems can be useful for introducing a motivating technological element into the lessons, as well as a new methodology. In this study, in addition to the use of interactive response systems or clickers, mobile learning technology has been introduced by developing a methodology for using the Kahoot and Telegram tools in the subject “Physical Foundations of Engineering II” of Electronic Engineering Degree. Department of Applied Physics of University of Cordoba has a broad experience using Clickers in theory classes with large groups for different university degrees, but now the use of mobile learning technologies has been introduced in medium-sized groups for practical classes. Using this new methodology, students of medium-sized groups perform a quiz during the problem solving lesson, where they utilized their knowledge gained during the class. The completion of the quiz allows teachers to assess the student’s level in real time, and to use the feedback to address initial problems and misunderstandings. Results show the interactive response systems are highly valued by students, who perceive it as a tool to improve learning and increase competition in the classroom

    IV Congreso sobre Arquitectura y CooperaciĂłn al Desarrollo ArCaDia 4: libro de actas

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    Resultados de la Vigilancia Epidemiológica de las enfermedades transmisibles. Informe anual. Año 2015

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    El objetivo final de la vigilancia de las enfermedades transmisibles es reducir su incidencia en la comunidad. La Red Nacional de Vigilancia Epidemiológica (RENAVE) tiene entre sus funciones la recogida sistemåtica de la información epidemiológica, su anålisis e interpretación y la difusión de los resultados. Este informe presenta los resultados de la vigilancia de las enfermedades transmisibles para el año 2015 realizada por los servicios de vigilancia de las comunidades autónomas y el Centro Nacional de Epidemiología (CNE) de acuerdo a los protocolos de la RENAVE.N

    Aprendizajes y trayectorias del sector agroalimentario mexicano durante el TLCAN

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    Ante la firma del Tratado México, Estados Unidos y Canadå (T-MEC), es importante hacer un balance de los efectos que dejó tras de sí el Tratado de Libre Comercio de América del Norte (TLCAN) en el sector agropecuario. Por ello, connotados especialistas analizan factores socioeconómicos del sistema agroalimentario mexicano en el contexto de las relaciones comerciales con Estados Unidos y Canadå. Los 10 estudios que contiene el libro Aprendizajes y trayectorias del sector agroalimentario mexicano durante el TLCAN son de gran valía para la obtención de conocimiento especializado para comprender críticamente las lógicas, trayectorias, evolución y comportamientos de las cadenas productivas a la luz de la firma de los tratados comerciales de América del Norte, así como sus efectos en el campo mexicano, territorios rurales y consumidoresFinanciación del Instituto Interamericano de Cooperación para la Agricultura en colaboración con autore

    Técnicas y tecnologías en hidrología médica e hidroterapia

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    El objetivo del presente informe es difundir entre los profesionales médicos la información que contribuya a orientarles en la materia, conocer las aplicaciones terapéuticas o rehabilitadoras que pueden ofrecer los distintos centros termales y explorar su interacción con los tratamientos médicos habituales a los que suelen estar sometidos los usuarios de estos programas de termalismo

    Competitive Risaralda, generating research alliance for development

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    El presente libro lleva como tĂ­tulo “Risaralda competitiva, generando alianzas en investigaciĂłn para el desarrollo”, resultado del V encuentro de investigadores del departamento de Risaralda realizado en el mes de noviembre del año 2020. Evento en el cual se presentaron las Ășltimas investigaciones realizadas en las diferentes instituciones educativas del departamento; quienes hacen parte de la Mesa de Investigaciones de Risaralda; ejercicio de gran interĂ©s que arroja resultados de investigaciones en diferentes ĂĄreas como son las Ciencias AgrĂ­colas, Ciencias sociales, Ciencias de la salud, Ciencias de la tecnologĂ­a y la informaciĂłn

    Goodbye Hartmann trial: a prospective, international, multicenter, observational study on the current use of a surgical procedure developed a century ago

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    Background: Literature suggests colonic resection and primary anastomosis (RPA) instead of Hartmann's procedure (HP) for the treatment of left-sided colonic emergencies. We aim to evaluate the surgical options globally used to treat patients with acute left-sided colonic emergencies and the factors that leading to the choice of treatment, comparing HP and RPA. Methods: This is a prospective, international, multicenter, observational study registered on ClinicalTrials.gov. A total 1215 patients with left-sided colonic emergencies who required surgery were included from 204 centers during the period of March 1, 2020, to May 31, 2020. with a 1-year follow-up. Results: 564 patients (43.1%) were females. The mean age was 65.9 ± 15.6 years. HP was performed in 697 (57.3%) patients and RPA in 384 (31.6%) cases. Complicated acute diverticulitis was the most common cause of left-sided colonic emergencies (40.2%), followed by colorectal malignancy (36.6%). Severe complications (Clavien-Dindo ≄ 3b) were higher in the HP group (P < 0.001). 30-day mortality was higher in HP patients (13.7%), especially in case of bowel perforation and diffused peritonitis. 1-year follow-up showed no differences on ostomy reversal rate between HP and RPA. (P = 0.127). A backward likelihood logistic regression model showed that RPA was preferred in younger patients, having low ASA score (≀ 3), in case of large bowel obstruction, absence of colonic ischemia, longer time from admission to surgery, operating early at the day working hours, by a surgeon who performed more than 50 colorectal resections. Conclusions: After 100 years since the first Hartmann's procedure, HP remains the most common treatment for left-sided colorectal emergencies. Treatment's choice depends on patient characteristics, the time of surgery and the experience of the surgeon. RPA should be considered as the gold standard for surgery, with HP being an exception

    TRY plant trait database – enhanced coverage and open access

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    Plant traits - the morphological, anatomical, physiological, biochemical and phenological characteristics of plants - determine how plants respond to environmental factors, affect other trophic levels, and influence ecosystem properties and their benefits and detriments to people. Plant trait data thus represent the basis for a vast area of research spanning from evolutionary biology, community and functional ecology, to biodiversity conservation, ecosystem and landscape management, restoration, biogeography and earth system modelling. Since its foundation in 2007, the TRY database of plant traits has grown continuously. It now provides unprecedented data coverage under an open access data policy and is the main plant trait database used by the research community worldwide. Increasingly, the TRY database also supports new frontiers of trait‐based plant research, including the identification of data gaps and the subsequent mobilization or measurement of new data. To support this development, in this article we evaluate the extent of the trait data compiled in TRY and analyse emerging patterns of data coverage and representativeness. Best species coverage is achieved for categorical traits - almost complete coverage for ‘plant growth form’. However, most traits relevant for ecology and vegetation modelling are characterized by continuous intraspecific variation and trait–environmental relationships. These traits have to be measured on individual plants in their respective environment. Despite unprecedented data coverage, we observe a humbling lack of completeness and representativeness of these continuous traits in many aspects. We, therefore, conclude that reducing data gaps and biases in the TRY database remains a key challenge and requires a coordinated approach to data mobilization and trait measurements. This can only be achieved in collaboration with other initiatives
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