iFADO project: contribution to the determination of the Good Environmental Status in the Atlantic Area through modeling and in situ monitoring approaches

The project iFADO ( innovation in the Framework of the Atlantic Deep Ocean ) aims to combine conventional monitoring programs (with special focus on novel semi-automatic techniques that can be applied for in situ biological monitoring) with emerging technologies (such as gliders, satellite imagery, etc.) and modeling approaches to assist the implementation of the Marine Strategy Framework Directive (MSFD), providing tools for the optimization of observing strategies for better evaluation and forecasting of the Good Environmental Status (GES). Within this framework, the multidisciplinary iFADO cruise (within the RADPROF time series program, Instituto Español de Oceanografía) was carried out with transnational collaboration on summer 2020 along a standard coastal-oceanic transect off NW Iberian Peninsula, including physical, biogeochemical and biological measurements. Additionally, an effort is being made in the implementation and validation of existing and new biogeochemical models in the Atlantic margin, focusing on key variables for the implementation of MSFD Descriptors. The combination of iFADO models and in situ monitoring approaches not only might contribute data and potential indicators for MSFD Descriptors 1, 2, 3, 4, 5, 6, 7 and 10, from coastal to open-ocean environments, but they are essential tools to detect, model and predict temporal changes in marine ecosystems in the study area

Physiopathological bases of the disease caused by HACE1 mutations: alterations in autophagy, mitophagy and oxidative stress response

Recessive HACE1 mutations are associated with a severe neurodevelopmental disorder (OMIM: 616756). However, the physiopathologycal bases of the disease are yet to be completely clarified. Whole-exome sequencing identified homozygous HACE1 mutations (c.240C>A, p.Cys80Ter) in a patient with brain atrophy, psychomotor retardation and 3-methylglutaconic aciduria, a biomarker of mitochondrial dysfunction. To elucidate the pathomechanisms underlying HACE1 deficiency, a comprehensive molecular analysis was performed in patient fibroblasts. Western Blot demonstrated the deleterious effect of the mutation, as the complete absence of HACE1 protein was observed. Immunofluorescence studies showed an increased number of LC3 puncta together with the normal initiation of the autophagic cascade, indicating a reduction in the autophagic flux. Oxidative stress response was also impaired in HACE1 fibroblasts, as shown by the reduced NQO1 and Hmox1 mRNA levels observed in H2O2-treated cells. High levels of lipid peroxidation, consistent with accumulated oxidative damage, were also detected. Although the patient phenotype could resemble a mitochondrial defect, the analysis of the mitochondrial function showed no major abnormalities. However, an important increase in mitochondrial oxidative stress markers and a strong reduction in the mitophagic flux were observed, suggesting that the recycling of damaged mitochondria might be targeted in HACE1 cells. In summary, we demonstrate for the first time that the impairment of autophagy, mitophagy and oxidative damage response might be involved in the pathogenesis of HACE1 deficiency

Short-term variability in the activity and composition of the diazotroph community in a coastal upwelling system

Today we know that diazotrophs are common and active in nitrogen (N) replete regions, however the factors controlling their distribution remain elusive. Previous studies in upwelling regions revealed that the composition of diazotrophs responded to changes in hydrodynamic forcing over seasonal scales. Here we used high-frequency observations collected during a 3-week cruise in the upwelling region off NW Iberia to describe changes in the activity and composition of diazotrophs over shorter temporal scales. The cruise started after a strong upwelling event followed by a few days of relaxation-downwelling, and soon after another upwelling pulse. Higher N2 fixation rates (2.2 ± 0.7 µmol m-3 d-1) were measured during relaxation-downwelling, when surface nitrate concentration was low. During the fertilization associated with the upwelling, N2 fixation dramatically decreased to 0.10 ± 0.09 µmol m-3 d-1. The comparison with nitrate consumption and diffusion confirmed the minor role of N2 fixation (<1%) as a source of new N for primary production. The unicellular cyanobacterium UCYN-A2 was the dominant diazotroph during the cruise. UCYN-A2 abundance was four times higher during relaxation-downwelling (4x104 copies L-1) compared to upwelling conditions (0.2x104 copies L-1), when the unusual Epsilonproteobacteria increased their relative abundance. These results indicate that diazotrophs can respond rapidly to changes in the environment, and point out to the availability of N as a key factor controlling the activity, composition and distribution of diazotrophs in eutrophic regions

Sentido social del hábitat. IV Congreso sobre Arquitectura y Cooperación al Desarrollo: libro de resúmenes

Resúmenes del IV Congreso sobre Arquitectura y Cooperación al Desarrollo, celebrado los días 29 y 30 de septiembre de 2016 en A Coruña

Buenas Prácticas en los Programas Universitarios para Mayores en España

Ana Isabel Muñoz Alcón y Francisco Trullén Galve (Universidad Catolica de Ávila); María P. García de la Torre y Francisco Ascón Belver (Universidad de A Coruña); M. Isabel Luis Rico, Ángel Gañán Adánez, Tamara de la Torre Cruz, Vanesa Baños Martínez (Universidad de Burgos); Yolanda Lázaro Fernández y Jaime Cuenca Amigo (Universidad de Deusto); Camino Caballero Posado (Universidad de Extremadura); Mª Adoración Holgado Sánchez y Mª Teresa Ramos Bernal (Universidad Pontificia de Salamanca); Sara Serrate González, Javier Alba Barrios y José Manuel Muñoz Rodríguez; Miguel Ángel Nombela Castaño (Universidad de Vigo

Plan de Acción Tutorial Integrado, en Educación

En el proyecto que se presenta se parte no solamente de una amplia trayectoria de los Grados de la Facultad de Ciencias de la Educación de la UGR en orientación universitaria, sino, además, de una necesidad patente plasmada en los Objetivos Estratégicos que se incluyen dentro del Sistema para la Garantía de la Calidad de la Facultad; siendo el segundo objetivo “Orientación y tutoría académica”, y una de sus acciones (Plan Director 19-21): Crear curriculum complementario para los estudiantes (desarrollo de competencias transversales a través de un PAT). Otras acciones relacionadas y en las que continuamos trabajando en el Plan Director 22 24 son Establecer acciones de tutorización coordinadas y complementarias al PAT, formar a los tutores de grupo-curso, establecer un plan general de orientación profesional y empleabilidad, potenciar la orientación académica y profesional de los estudiantes NEAE, entre otras. Con el diseño del Plan de Acción Tutorial Integrado, en Educación, se pretende desarrollar en el estudiantado de los Grados en Pedagogía, Ed. Social, Ed. Infantil y Ed. Primaria, competencias transversales que complementen su formación académica y le ayuden en su desarrollo académico, personal y profesional. En él participará profesorado, alumnado y PAS de la Facultad, no solamente para fomentar su sentimiento de pertenencia y favorecer un clima de comunidad universitaria, sino además, para enriquecerse unos a otros, aprendiendo juntos, solventando dudas, guiando, orientando y haciendo que el paso por la Universidad de todo el alumnado que participe del mismo, sea lo más enriquecedor y productivo posible, logrando un elevado rendimiento académico, un adecuado desarrollo personal y un posterior futuro profesional colmado de éxitos. Para ello se ha llevado a cabo un análisis de necesidades mediante el Cuestionario para detección de necesidades formativas transversales del alumnado en la Facultad de Ciencias de la Educación (Escala de competencias transversales del cuestionario CECTGRA de Martínez y González, 2018), a partir del cual se diseñan diferentes talleres orientados a cada curso según sus intereses, motivaciones y necesidades, haciendo una posterior evaluación de los resultados y un análisis de los mismos. Se ha logrado además del diseño del PAT, dotar de unidad a todas las actividades que desde la Facultad se realizaban en torno a la orientación del estudiantado. Se ha realizado un esfuerzo porque los resultados obtenidos se vean reflejados en las diferentes materias, no solamente a nivel transversal sino de forma directa. Por ejemplo, al trabajarse la normativa APA se ha introducido este punto en las rúbricas de evaluación de diferentes asignaturas para, de este modo, relacionar su aprendizaje con la evaluación y rendimiento académico. Al centrarse el primer curso fundamentalmente en el análisis de necesidades, la asistencia ha sido mucho mayor en el segundo curso (21-22), haciendo especial hincapié en la difusión de las actividades, siguiendo el Plan de Comunicación del Centro, a través de la web de la Facultad y de la figura de los tutores de grupo curso. Un objetivo a largo plazo, es incluir las competencias aprendidas en los talleres dirigidos al estudiantado de 4º en la calificación del Trabajo Fin de Grado. Este punto no ha dado tiempo a consolidarlo en dos cursos académicos, pero seguiremos trabajando en ello ya que consideramos que es fundamental además de poder dar de esta forma respuesta a una de las alegaciones realizadas por la DEVA en el informe de la renovación de la acreditación de los Grados.This project is based not only on a wide trajectory of the Degrees of the Faculty of Education Sciences of the UGR in university orientation, but, in addition, from a patent need embodied in the Strategic Objectives that are included within the System for the Guarantee of the Quality of the Faculty; the second objective being "Academic guidance and tutoring", and one of its actions (Master Plan 19-21): Create complementary curriculum for students (development of transversal competences through a PAT). Other related actions and in which we continue to work in the Master Plan 22 24 are To establish coordinated and complementary tutoring actions to the PAT, to train the group-course tutors, to establish a general plan of professional orientation and employability, to enhance the academic and professional orientation of the NEAE students, among others. With the design of the Integrated Tutorial Action Plan, in Education, it is intended to develop in the students of the Degrees in Pedagogy, Social Ed., Infant Ed. and Primary Ed., transversal competences that complement their academic training and help them in their academic, personal and professional development. It will involve teachers, students and PAS of the Faculty, not only to promote the feeling of belonging of the same and favor a climate of university community, but, in addition, to enrich each other, learning together, solving doubts, guiding, guiding and making the passage through the University of all the students who participate in it, as enriching and productive as possible, achieving a high academic performance, a competent personal development and a subsequent professional future full of successes. To this end, a needs analysis has been carried out (through the Questionnaire for the detection of transversal training needs of students in the Faculty of Education Sciences (Scale of transversal competences of the CECTGRA questionnaire of Martínez y González, 2018), reflected in different workshops oriented to each course according to their interests, motivations and needs, making a subsequent evaluation of the results and analysis of them. It has been achieved in addition to the design of the PAT, to provide unity to all the activities that from the Faculty were carried out around the orientation of the students. We have worked so that the results obtained are reflected in the different subjects, not only at a transversal level but directly. For example, when working on the APA regulations, it has been introduced in the evaluation rubrics of different subjects in order to relate their learning with evaluation and academic performance. By focusing the first course mainly on the analysis of needs, the attendance has been much higher in the second year (21 22), with special emphasis on the dissemination of the activities, following the Communication Plan of the Center, through the website of the Faculty and the figure of the tutors of the course group. A long-term objective is to include the skills learned in the workshops of the 4th grade students in the TFG qualification. This point has not given time to consolidate it in two academic years but we will continue working on it since we consider that it is fundamental in addition to being able to respond in this way to one of the allegations made by the DEVA in the report of the renewal of the accreditation of the Degrees.Unidad de Calidad, Innovación Docente y Prospectiva. Universidad de Granada

ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization

BackgroundWhole-exome sequencing (WES) and whole-genome sequencing (WGS) have become indispensable tools to solve rare Mendelian genetic conditions. Nevertheless, there is still an urgent need for sensitive, fast algorithms to maximise WES/WGS diagnostic yield in rare disease patients. Most tools devoted to this aim take advantage of patient phenotype information for prioritization of genomic data, although are often limited by incomplete gene-phenotype knowledge stored in biomedical databases and a lack of proper benchmarking on real-world patient cohorts.MethodsWe developed ClinPrior, a novel method for the analysis of WES/WGS data that ranks candidate causal variants based on the patient's standardized phenotypic features (in Human Phenotype Ontology (HPO) terms). The algorithm propagates the data through an interactome network-based prioritization approach. This algorithm was thoroughly benchmarked using a synthetic patient cohort and was subsequently tested on a heterogeneous prospective, real-world series of 135 families affected by hereditary spastic paraplegia (HSP) and/or cerebellar ataxia (CA).ResultsClinPrior successfully identified causative variants achieving a final positive diagnostic yield of 70% in our real-world cohort. This includes 10 novel candidate genes not previously associated with disease, 7 of which were functionally validated within this project. We used the knowledge generated by ClinPrior to create a specific interactome for HSP/CA disorders thus enabling future diagnoses as well as the discovery of novel disease genes.ConclusionsClinPrior is an algorithm that uses standardized phenotype information and interactome data to improve clinical genomic diagnosis. It helps in identifying atypical cases and efficiently predicts novel disease-causing genes. This leads to increasing diagnostic yield, shortening of the diagnostic Odysseys and advancing our understanding of human illnesses