The human Cranio Facial Development Protein 1 (Cfdp1) gene encodes a protein required for the maintenance of higher-order chromatin organization

The human Cranio Facial Development Protein 1 (Cfdp1) gene maps to chromosome 16q22.2-q22.3 and encodes the CFDP1 protein, which belongs to the evolutionarily conserved Bucentaur (BCNT) family. Craniofacial malformations are developmental disorders of particular biomedical and clinical interest, because they represent the main cause of infant mortality and disability in humans, thus it is important to understand the cellular functions and mechanism of action of the CFDP1 protein. We have carried out a multi-disciplinary study, combining cell biology, reverse genetics and biochemistry, to provide the first in vivo characterization of CFDP1 protein functions in human cells. We show that CFDP1 binds to chromatin and interacts with subunits of the SRCAP chromatin remodeling complex. An RNAi-mediated depletion of CFDP1 in HeLa cells affects chromosome organization, SMC2 condensin recruitment and cell cycle progression. Our findings provide new insight into the chromatin functions and mechanisms of the CFDP1 protein and contribute to our understanding of the link between epigenetic regulation and the onset of human complex developmental disorders

Informe sobre la posibilidad de enjuiciamiento de Augusto Pinochet

Traballo fin de grao (UDC.DER). Dereito. Curso 2014/201

Reversible Nuclear-Lipid-Droplet Morphology Induced by Oleic Acid: A Link to Cellular-Lipid Metabolism

Neutral lipidsÐinvolved in many cellular processesÐare stored as lipid droplets (LD), thosemainly cytosolic (cLD) along with a small nuclear population (nLD). nLD could be involved innuclear-lipid homeostasis serving as an endonuclear buffering system that would provide orincorporate lipids and proteins involved in signalling pathways as transcription factors andas enzymes of lipid metabolism and nuclear processes. Our aim was to determine if nLDconstituted a dynamic domain. Oleic-acid (OA) added to rat hepatocytes or HepG2 cells inculture produced cellular-phenotypic LD modifications: increases in TAG, CE, C, and PLcontent and in cLD and nLD numbers and sizes. LD increments were reversed on exclusionof OA and were prevented by inhibition of acyl-CoA synthetase (with Triacsin C) and thuslipid biosynthesis. Under all conditions, nLD corresponded to a small population (2±10%) oftotal cellular LD. The anabolism triggered by OA, involving morphologic and size changeswithin the cLD and nLD populations, was reversed by a net balance of catabolism, uponeliminating OA. These catabolic processes included lipolysis and the mobilization of hydrolyzedFA from the LD to cytosolic-oxidation sites. These results would imply that nLD areactively involved in nuclear processes that include lipids. In conclusion, nLD are a dynamicnuclear domain since they are modified by OA through a reversible mechanism in combinationwith cLD; this process involves acyl-CoA-synthetase activity; ongoing TAG, CE, and PLbiosynthesis. Thus, liver nLD and cLD are both dynamic cellular organelles.Fil: Lagrutta, Lucía Carolina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto de Investigaciones Bioquímicas de La Plata "Prof. Dr. Rodolfo R. Brenner". Universidad Nacional de la Plata. Facultad de Ciencias Médicas. Instituto de Investigaciones Bioquímicas de La Plata ; ArgentinaFil: Montero Villegas, Sandra. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto de Investigaciones Bioquímicas de La Plata "Prof. Dr. Rodolfo R. Brenner". Universidad Nacional de la Plata. Facultad de Ciencias Médicas. Instituto de Investigaciones Bioquímicas de La Plata ; ArgentinaFil: Layerenza, Juan Pablo. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto de Investigaciones Bioquímicas de La Plata "Prof. Dr. Rodolfo R. Brenner". Universidad Nacional de la Plata. Facultad de Ciencias Médicas. Instituto de Investigaciones Bioquímicas de La Plata ; ArgentinaFil: Sisti, Martin Sebastian. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto de Investigaciones Bioquímicas de La Plata "Prof. Dr. Rodolfo R. Brenner". Universidad Nacional de la Plata. Facultad de Ciencias Médicas. Instituto de Investigaciones Bioquímicas de La Plata ; ArgentinaFil: Garcia, Margarita Maria. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto de Investigaciones Bioquímicas de La Plata "Prof. Dr. Rodolfo R. Brenner". Universidad Nacional de la Plata. Facultad de Ciencias Médicas. Instituto de Investigaciones Bioquímicas de La Plata ; ArgentinaFil: Ves Losada, Ana. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto de Investigaciones Bioquímicas de La Plata "Prof. Dr. Rodolfo R. Brenner". Universidad Nacional de la Plata. Facultad de Ciencias Médicas. Instituto de Investigaciones Bioquímicas de La Plata ; Argentin

El perfil profesional del directivo de enfermeria como gestor organizativo y los nuevos retos del espacio europeo de educación superior

En este artículo se reflexiona sobre las funciones de los directivos enfermería y sobre las dificultades que obstaculizan su desempeño profesional. A su vez, plantea los retos profesionales que en cuanto a funciones, y a su formación están vigentes en la actualidad, presentando una serie de estrategias en pro de una mejora en la formación y en el desarrollo profesional. Estos cambios pueden verse potenciados por el reciente cambio en el marco legislativo profesional y por el nuevo modelo educativo propiciado por el Espacio Europeo Educativo Superior.______________________________This manuscript is the result of a thought about the nursing managers' mission and the difficulties found in their performance appraisal. At the same time, it introduces the current professional challenges related to mission and training. Different strategies to improve both training and professional development are shown. Such changes may be upgraded by the recent changes in the professional regulatory frame and also by the new educational model promoted by the European Higher Education Area

La sexualidad como fuente de aprendizaje y formación integral

Curso de Especial Interés: Psicología y SexualidadEl objetivo del presente proyecto es ofrecer una guía sobre los temas fundamentales en educación sexual teniendo en cuenta el ciclo en el que se encuentre el estudiante con base en las investigaciones y estudios previamente realizados a nivel nacional como internacional. Este proyecto se encuentra dirigido a los profesionales del sector educativo principalmente a los docentes que dictan clases a los grados cuarto y quinto de primaria para que puedan promover una formación íntegra a través de la implementación del tema de sexualidad en diversas asignaturas ya que es parte esencial del desarrollo de los estudiantes en su diario vivir y promueve un aprendizaje íntegro que influye en la capacidad de toma de decisiones acertadas respecto al tema. Este proyecto se desarrolla a través de una encuesta con base en la ENDS y el PESCC adicionalmente cuenta una página web para consulta de la información requerida y cartillas orientadoras sobre los temas seleccionados.91 p.1. Resumen 2. Justificación 3. Propuesta 4. Objetivos 5. Metodología 6. Consideraciones éticas 7. Estudio de Mercadeo 8. Resultados 9. Conclusiones 10. Referencias 11. ApéndicesPregradoPsicólog

Influence of some oenological practices on the aromatic and sensorial characteristics of white Verdejo wines

Changes in the aromatic composition as well as sensory characteristics in Verdejo white wines were analysed based on two factors: the winemaking methodology and the storing time of wine in bottles. The volatile components were determined by GLC-MS, and the sensory profile was designed and assessed according to the ISO 11035 standard. The results showed that when wines were made in oak barrels, either completely or partially, which means the wines were in contact with the lees, the levels of 1-octanol, ethyl heptanoate and ethyl decanoate were significantly affected (P menor que 0.05); the softness sensation was also influenced (P menor que 0.05). However, the amount of time the wines were stored in bottles significantly affected (P menor que 0.05) the levels of 1-hexanol, ethyl heptanoate, ethyl octanoate, ethyl decanoate, hexyl acetate, isoamyl acetate and isoamyl lactate and also an odour note (tropical fruit). The compounds with higher OAV values belong to the groups of esters and fatty acids. For these reasons, the composition and the quality of the aroma of Verdejo white wines appear to be significantly affected both by use of oak barrels in winemaking and the time the wines are stored in bottles

Influencia de cinco técnicas enológicas en parámetros relacionados con la acidez y el color en vinos tintos de Mencía

Se ha estudiado la influencia de cinco técnicas (metodología de elaboración, tipo de recipiente de conservación y tiempo de conservación del vino en rama, temperatura de conservación y tiempo de conservación del vino embotellado) sobre parámetros fisico-químicos y descriptores sensoriales ligados a la acidez y al color en vinos tintos jóvenes de la variedad Mencía en la DO. Valdeorras (Ourense, Galicia). Los resultados muestran que los 19 parámetros estudiados son muy sensibles a las técnicas estudiadas. Tres de las cinco técnicas afectan (p<0,05) a los 19 parámetros y las otras dos (p<0,05) a diez de ellos. La maceración prefermentativa en frio y la conservación del vino en barrica aumentaron la acidez, pero la elaboración tradicional, la conservación del vino en depósito, la conservación del vino en botella durante tres meses y el empleo de una temperatura de conservación del vino embotellado baja y constante fueron más adecuadas para el color. Esto hace necesario establecer condiciones muy concretas para cada técnica según el parámetro considerado

Physical exercises to prevent falls : a clinical trial with institutionalized elderly in the city of Goiânia in Brazil

Este estudo teve como objetivo avaliar um programa de intervenção com exercícios físicos em grupo na prevenção de quedas em idosos residentes em instituições de longa permanência. Trata-se de um ensaio clínico não randomizado realizado com 20 idosos institucionalizados na cidade de Goiânia, Brasil. As intervenções ocorreram durante cinco meses, sendo que o programa de exercícios proposto foi baseado em estudos anteriores. Medidas padronizadas foram utilizadas para avaliar quedas, equilíbrio e marcha, força muscular, flexibilidade e medo de quedas. A partir do período de 12 meses do início da intervenção houve redução significativa no número de quedas (p = 0,046). A partir do programa foram observadas diferenças significantes para pontuação das manobras de equilíbrio (p = 0,001), pontuação total das manobras de equilíbrio e marcha (p = 0,007), força muscular de preensão palmar (p = 0,001) e de membros inferiores (p < 0,001), flexibilidade do movimento de flexão dos ombros (p = 0,001). A intervenção realizada mediante um programa de exercícios mostrou-se adequada, porém, não suficiente para melhorar a marcha, flexibilidade multiarticular da coluna e quadril e medo de quedas, bem como para reduzir o número de idosos que sofreram quedas a partir do início do estudo. _________________________________________________________________________________________ ABSTRACTThe scope of this study was to evaluate an intervention program with group physical exercises to prevent falls in the elderly in long-term care institutions. This is a non-randomized clinical trial conducted with 20 institutionalized elderly people in the city of Goiânia in Brazil. The interventions occurred over the period of five months, though the proposed exercise program was based on earlier studies. Standardized measures were used to assess falls, balance and gait, muscle strength, flexibility and fear of falling. After the period of 12 months from the start of intervention there was a significant reduction in the number of falls (p = 0.046). Based on the program, significant differences were observed for point allocation of the maneuvers of balance (p = 0.001), total scores of the maneuvers of balance and gait (p = 0.007), muscle strength of hand grip (p = 0.001) and of lower limbs (p < 0.001), flexibility of movement of shoulder flexion (p = 0.001). The intervention using an exercise program proved to be adequate, albeit insufficient to improve the gait, multiple joint flexibility of the spine and hip and fear of falling, or to reduce the number of elderly people who suffered falls from the beginning of the study

RNA-seq analysis of early enteromyxosis in turbot (Scophthalmus maximus): new insights into parasite invasion and immune evasion strategies

Enteromyxum scophthalmi, an intestinal myxozoan parasite, is the causative agent of a threatening disease for turbot (Scophthalmus maximus, L.) aquaculture. The colonisation of the digestive tract by this parasite leads to a cachectic syndrome associated with high morbidity and mortality rates. This myxosporidiosis has a long pre-patent period and the first detectable clinical and histopathological changes are subtle. The pathogenic mechanisms acting in the early stages of infection are still far from being fully understood. Further information on the host–parasite interaction is needed to assist in finding efficient preventive and therapeutic measures. Here, a RNA-seq-based transcriptome analysis of head kidney, spleen and pyloric caeca from experimentally-infected and control turbot was performed. Only infected fish with early signs of infection, determined by histopathology and immunohistochemical detection of E. scophthalmi, were selected. The RNA-seq analysis revealed, as expected, less intense transcriptomic changes than those previously found during later stages of the disease. Several genes involved in IFN-related pathways were up-regulated in the three organs, suggesting that the IFN-mediated immune response plays a main role in this phase of the disease. Interestingly, an opposite expression pattern had been found in a previous study on severely infected turbot. In addition, possible strategies for immune system evasion were suggested by the down-regulation of different genes encoding complement components and acute phase proteins. At the site of infection (pyloric caeca), modulation of genes related to different structural proteins was detected and the expression profile indicated the inhibition of cell proliferation and differentiation. These transcriptomic changes provide indications regarding the mechanisms of parasite attachment to and invasion of the host. The current results contribute to a better knowledge of the events that characterise the early stages of turbot enteromyxosis and provide valuable information to identify molecular markers for early detection and control of this important parasitosis.This study was funded by the Spanish Ministry of Economy and Competitiveness (AGL 2009-13282-C02-01 and -02; AGL2015-67039-C3-1-R and AGL2015-67039-C3-3-R), the European Regional Development Fund (ERDF, European Union) and Xunta de Galicia (Spain) local government (GRC2014/010 and GPC2015/34). Diego Robledo was supported by a FPU fellowship funded by the Spanish Ministry of Education, Culture and Sport. Paolo Ronza was supported by a grant from the scientific network “INMUNOGENOM”, funded by Xunta de Galicia (REDES GI-1251).Peer Reviewe

Exploring genetic factors involved in huntington disease age of onset. E2F2 as a new potential modifier gene

Age of onset (AO) of Huntington disease (HD) is mainly determined by the length of the CAG repeat expansion (CAGexp) in exon 1 of the HTT gene. Additional genetic variation has been suggested to contribute to AO, although the mechanism by which it could affect AO is presently unknown. The aim of this study is to explore the contribution of candidate genetic factors to HD AO in order to gain insight into the pathogenic mechanisms underlying this disorder. For that purpose, two AO definitions were used: the earliest age with unequivocal signs of HD (earliest AO or eAO), and the first motor symptoms age (motor AO or mAO). Multiple linear regression analyses were performed between genetic variation within 20 candidate genes and eAO or mAO, using DNA and clinical information of 253 HD patients from REGISTRY project. Gene expression analyses were carried out by RT-qPCR with an independent sample of 35 HD patients from Basque Country Hospitals. We found suggestive association signals between HD eAO and/or mAO and genetic variation within the E2F2, ATF7IP, GRIN2A, GRIN2B, LINC01559, HIP1 and GRIK2 genes. Among them, the most significant was the association between eAO and rs2742976, mapping to the promoter region of E2F2 transcription factor. Furthermore, rs2742976 T allele patient carriers exhibited significantly lower lymphocyte E2F2 gene expression, suggesting a possible implication of E2F2-dependent transcriptional activity in HD pathogenesis. Thus, E2F2 emerges as a new potential HD AO modifier factor