28 research outputs found

    Genome-wide linkage analysis of QTL for growth and body composition employing the PorcineSNP60 BeadChip

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    [EN] Background: The traditional strategy to map QTL is to use linkage analysis employing a limited number of markers. These analyses report wide QTL confidence intervals, making very difficult to identify the gene and polymorphisms underlying the QTL effects. The arrival of genome-wide panels of SNPs makes available thousands of markers increasing the information content and therefore the likelihood of detecting and fine mapping QTL regions. The aims of the current study are to confirm previous QTL regions for growth and body composition traits in different generations of an Iberian x Landrace intercross (IBMAP) and especially identify new ones with narrow confidence intervals by employing the PorcineSNP60 BeadChip in linkage analyses. Results: Three generations (F3, Backcross 1 and Backcross 2) of the IBMAP and their related animals were genotyped with PorcineSNP60 BeadChip. A total of 8,417 SNPs equidistantly distributed across autosomes were selected after filtering by quality, position and frequency to perform the QTL scan. The joint and separate analyses of the different IBMAP generations allowed confirming QTL regions previously identified in chromosomes 4 and 6 as well as new ones mainly for backfat thickness in chromosomes 4, 5, 11, 14 and 17 and shoulder weight in chromosomes 1, 2, 9 and 13; and many other to the chromosome-wide signification level. In addition, most of the detected QTLs displayed narrow confidence intervals, making easier the selection of positional candidate genes. Conclusions: The use of higher density of markers has allowed to confirm results obtained in previous QTL scans carried out with microsatellites. Moreover several new QTL regions have been now identified in regions probably not covered by markers in previous scans, most of these QTLs displayed narrow confidence intervals. Finally, prominent putative biological and positional candidate genes underlying those QTL effects are listed based on recent porcine genome annotation.This work was funded by MICINN projects AGL2008-04818-C03/GAN and CSD2007-00036. DPM was funded by a FPI Ph.D grant from the Spanish Ministerio de Educacion (BES-2009-025417). YR was funded by a FPU Ph.D grant from the Spanish Ministerio de Educacion (AP2008-01450). We want to thanks to Dr. Martien Groenen (Wageningen, NL) for the SNP annotation on porcine genome assembly, to Anna Mercade for her technical assistance with the SNPs genotyping and to Rita Benitez and Fabian Garcia for technical support.Fernández, A.; Pérez-Montarelo, D.; Barragan, C.; Ramayo-Caldas, Y.; Ibáñez-Escriche, N.; Castelló, A.; Noguera, J.... (2012). Genome-wide linkage analysis of QTL for growth and body composition employing the PorcineSNP60 BeadChip. BMC Genetics. 13:1-11. https://doi.org/10.1186/1471-2156-13-41S11113Van Laere, A.-S., Nguyen, M., Braunschweig, M., Nezer, C., Collette, C., Moreau, L., … Andersson, L. (2003). A regulatory mutation in IGF2 causes a major QTL effect on muscle growth in the pig. Nature, 425(6960), 832-836. doi:10.1038/nature02064John, S., Shephard, N., Liu, G., Zeggini, E., Cao, M., Chen, W., … Kennedy, G. C. (2004). Whole-Genome Scan, in a Complex Disease, Using 11,245 Single-Nucleotide Polymorphisms: Comparison with Microsatellites. The American Journal of Human Genetics, 75(1), 54-64. doi:10.1086/422195Mercadé, A., Estellé, J., Noguera, J. L., Folch, J. M., Varona, L., Silió, L., … Pérez-Enciso, M. (2005). On growth, fatness, and form: A further look at porcine Chromosome 4 in an Iberian × Landrace cross. Mammalian Genome, 16(5), 374-382. doi:10.1007/s00335-004-2447-4Óvilo, C., Pérez-Enciso, M., Barragán, C., Clop, A., Rodríguez, C., Oliver, M. A., … Noguera, J. L. (2000). A QTL for intramuscular fat and backfat thickness is located on porcine Chromosome 6. Mammalian Genome, 11(4), 344-346. doi:10.1007/s003350010065Cristina, Ó., Oliver, A., Noguera, J. L., Clop, A., Barragán, C., Varona, L., … Silió, L. (2002). Test for positional candidate genes for body composition on pig chromosome 6. Genetics Selection Evolution, 34(4). doi:10.1186/1297-9686-34-4-465ÓVILO, C., FERNÁNDEZ, A., NOGUERA, J. L., BARRAGÁN, C., LETÓN, R., RODRÍGUEZ, C., … TORO, M. (2005). Fine mapping of porcine chromosome 6 QTL and LEPR effects on body composition in multiple generations of an Iberian by Landrace intercross. Genetical Research, 85(1), 57-67. doi:10.1017/s0016672305007330Óvilo, C., Fernández, A., Fernández, A. I., Folch, J. M., Varona, L., Benítez, R., … Silió, L. (2010). Hypothalamic expression of porcine leptin receptor (LEPR), neuropeptide Y (NPY), and cocaine- and amphetamine-regulated transcript (CART) genes is influenced by LEPR genotype. Mammalian Genome, 21(11-12), 583-591. doi:10.1007/s00335-010-9307-1Estellé, J., Fernández, A. I., Pérez-Enciso, M., Fernández, A., Rodríguez, C., Sánchez, A., … Folch, J. M. (2009). A non-synonymous mutation in a conserved site of theMTTPgene is strongly associated with protein activity and fatty acid profile in pigs. Animal Genetics, 40(6), 813-820. doi:10.1111/j.1365-2052.2009.01922.xEstellé, J., Pérez-Enciso, M., Mercadé, A., Varona, L., Alves, E., Sánchez, A., & Folch, J. M. (2006). Characterization of the porcine FABP5 gene and its association with the FAT1 QTL in an Iberian by Landrace cross. Animal Genetics, 37(6), 589-591. doi:10.1111/j.1365-2052.2006.01535.xMercadé, A., Pérez-Enciso, M., Varona, L., Alves, E., Noguera, J. L., Sánchez, A., & Folch, J. M. (2006). Adipocyte fatty-acid binding protein is closely associated to the porcine FAT1 locus on chromosome 41. Journal of Animal Science, 84(11), 2907-2913. doi:10.2527/jas.2005-663Evans, D. M., & Cardon, L. R. (2004). Guidelines for Genotyping in Genomewide Linkage Studies: Single-Nucleotide–Polymorphism Maps Versus Microsatellite Maps. The American Journal of Human Genetics, 75(4), 687-692. doi:10.1086/424696Gonzalez-Neira, A., Rosa-Rosa, J., Osorio, A., Gonzalez, E., Southey, M., Sinilnikova, O., … Benitez, J. (2007). Genomewide high-density SNP linkage analysis of non-BRCA1/2 breast cancer families identifies various candidate regions and has greater power than microsatellite studies. BMC Genomics, 8(1), 299. doi:10.1186/1471-2164-8-299Chioza, B. A., Aicardi, J., Aschauer, H., Brouwer, O., Callenbach, P., Covanis, A., … Everett, K. V. (2009). Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14. Epilepsy Research, 87(2-3), 247-255. doi:10.1016/j.eplepsyres.2009.09.010Ramos, A. M., Crooijmans, R. P. M. A., Affara, N. A., Amaral, A. J., Archibald, A. L., Beever, J. E., … Groenen, M. A. M. (2009). 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Confirmed quantitative trait loci for fatness and growth on pig chromosome 4. Heredity, 82(2), 134-141. doi:10.1038/sj.hdy.6884630Fan, B., Onteru, S. K., Du, Z.-Q., Garrick, D. J., Stalder, K. J., & Rothschild, M. F. (2011). Genome-Wide Association Study Identifies Loci for Body Composition and Structural Soundness Traits in Pigs. PLoS ONE, 6(2), e14726. doi:10.1371/journal.pone.0014726Bidanel, J.-P., Milan, D., Iannuccelli, N., Amigues, Y., Boscher, M.-Y., Bourgeois, F., … Chevalet, C. (2001). Detection of quantitative trait loci for growth and fatness in pigs. Genetics Selection Evolution, 33(3). doi:10.1186/1297-9686-33-3-289Geldermann, H., Čepica, S., Stratil, A., Bartenschlager, H., & Preuss, S. (2010). Genome-wide mapping of Quantitative Trait Loci for fatness, fat cell characteristics and fat metabolism in three porcine F2 crosses. Genetics Selection Evolution, 42(1). doi:10.1186/1297-9686-42-31Quintanilla, R., Milan, D., & Bidanel, J.-P. (2002). A further look at quantitative trait loci affecting growth and fatness in a cross between Meishan and Large White pig populations. Genetics Selection Evolution, 34(2), 193. doi:10.1186/1297-9686-34-2-193Sławińska, A., Siwek, M., Knol, E. F., Roelofs-Prins, D. T., van Wijk, H. J., Dibbits, B., & Bednarczyk, M. (2009). Validation of the QTL on SSC4 for meat and carcass quality traits in a commercial crossbred pig population. Journal of Animal Breeding and Genetics, 126(1), 43-51. doi:10.1111/j.1439-0388.2008.00753.xMilan, D., Bidanel, J.-P., Iannuccelli, N., Riquet, J., Amigues, Y., Gruand, J., … Chevalet, C. (2002). Detection of quantitative trait loci for carcass composition traits in pigs. Genetics Selection Evolution, 34(6), 705. doi:10.1186/1297-9686-34-6-705Guo, T., Ren, J., Yang, K., Ma, J., Zhang, Z., & Huang, L. (2009). Quantitative trait loci for fatty acid composition in longissimus dorsi and abdominal fat: results from a White Duroc × Erhualian intercross F2population. Animal Genetics, 40(2), 185-191. doi:10.1111/j.1365-2052.2008.01819.xLiu, G., Kim, J. J., Jonas, E., Wimmers, K., Ponsuksili, S., Murani, E., … Schellander, K. (2008). Combined line-cross and half-sib QTL analysis in Duroc–Pietrain population. Mammalian Genome, 19(6), 429-438. doi:10.1007/s00335-008-9132-yKIM, C. W., HONG, Y. H., YUN, S.-I., LEE, S.-R., KIM, Y. H., KIM, M.-S., … CHANG, K.-T. (2006). Use of Microsatellite Markers to Detect Quantitative Trait Loci in Yorkshire Pigs. Journal of Reproduction and Development, 52(2), 229-237. doi:10.1262/jrd.17046Liu, G., Jennen, D. G. J., Tholen, E., Juengst, H., Kleinwächter, T., Hölker, M., … Wimmers, K. (2007). A genome scan reveals QTL for growth, fatness, leanness and meat quality in a Duroc-Pietrain resource population. Animal Genetics, 38(3), 241-252. doi:10.1111/j.1365-2052.2007.01592.xXu, X. L., Xu, X. W., Pan, P. W., Li, K., Jiang, Z. H., Yu, M., … Liu, B. (2009). Porcine skeletal muscle differentially expressed geneCMYA1: isolation, characterization, mapping, expression and association analysis with carcass traits. Animal Genetics, 40(3), 255-261. doi:10.1111/j.1365-2052.2008.01825.xRamos, A. M., Bastiaansen, J. W. M., Plastow, G. S., & Rothschild, M. F. (2009). Genes located on a SSC17 meat quality QTL region are associated with growth in outbred pig populations. Animal Genetics, 40(5), 774-778. doi:10.1111/j.1365-2052.2009.01907.xRusso, V., Fontanesi, L., Scotti, E., Beretti, F., Davoli, R., Nanni Costa, L., … Buttazzoni, L. (2008). Single nucleotide polymorphisms in several porcine cathepsin genes are associated with growth, carcass, and production traits in Italian Large White pigs1. Journal of Animal Science, 86(12), 3300-3314. doi:10.2527/jas.2008-0920Tsai, F.-J., Yang, C.-F., Chen, C.-C., Chuang, L.-M., Lu, C.-H., Chang, C.-T., … Wu, J.-Y. (2010). A Genome-Wide Association Study Identifies Susceptibility Variants for Type 2 Diabetes in Han Chinese. PLoS Genetics, 6(2), e1000847. doi:10.1371/journal.pgen.1000847Silva, K. M., Bastiaansen, J. W. M., Knol, E. F., Merks, J. W. M., Lopes, P. S., Guimarães, S. E. F., & van Arendonk, J. A. M. (2010). Meta-analysis of results from quantitative trait loci mapping studies on pig chromosome 4. Animal Genetics, 42(3), 280-292. doi:10.1111/j.1365-2052.2010.02145.xFontanesi, L., Scotti, E., Buttazzoni, L., Dall’Olio, S., Davoli, R., & Russo, V. (2009). A single nucleotide polymorphism in the porcine cathepsin K (CTSK) gene is associated with back fat thickness and production traits in Italian Duroc pigs. Molecular Biology Reports, 37(1), 491-495. doi:10.1007/s11033-009-9678-0Ojeda, A., Estellé, J., Folch, J. M., & Pérez-Enciso, M. (2008). Nucleotide variability and linkage disequilibrium patterns at the porcineFABP5gene. 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Effects of porcine MC4R and LEPR polymorphisms, gender and Duroc sire line on economic traits in Duroc×Iberian crossbred pigs. Meat Science, 88(1), 169-173. doi:10.1016/j.meatsci.2010.12.018Krzęcio, E., Koćwin-Podsiadła, M., Kurył, J., Zybert, A., Sieczkowska, H., & Antosik, K. (2008). The effect of interaction between genotype CAST/RsaI (calpastatin) and MYOG/MspI (myogenin) on carcass and meat quality in pigs free of RYR1T allele. Meat Science, 80(4), 1106-1115. doi:10.1016/j.meatsci.2008.05.002Wyszyńska-Koko, J., Pierzchała, M., Flisikowski, K., Kamyczek, M., Różycki, M., & Kurył, J. (2006). Polymorphisms in coding and regulatory regions of the porcineMYF6 andMYOG genes and expression of theMYF6 gene inm. longissimus dorsi versus productive traits in pigs. Journal of Applied Genetics, 47(2), 131-138. doi:10.1007/bf03194612IKEDA, T., KANAZAWA, T., OTSUKA, S., ICHII, O., HASHIMOTO, Y., & KON, Y. (2009). Expression of Caspase Family and Muscle- and Apoptosis-Specific Genes during Skeletal Myogenesis in Mouse Embryo. Journal of Veterinary Medical Science, 71(9), 1161-1168. doi:10.1292/jvms.71.1161Lin, Z., Lou, Y., & Squires, E. J. (2006). Functional polymorphism in porcine CYP2E1 gene: Its association with skatole levels. The Journal of Steroid Biochemistry and Molecular Biology, 99(4-5), 231-237. doi:10.1016/j.jsbmb.2005.07.001Aubert, J., Begriche, K., Knockaert, L., Robin, M. A., & Fromenty, B. (2011). Increased expression of cytochrome P450 2E1 in nonalcoholic fatty liver disease: Mechanisms and pathophysiological role. Clinics and Research in Hepatology and Gastroenterology, 35(10), 630-637. doi:10.1016/j.clinre.2011.04.015Latreille, M., Laberge, M.-K., Bourret, G., Yamani, L., & Larose, L. (2011). Deletion of Nck1 attenuates hepatic ER stress signaling and improves glucose tolerance and insulin signaling in liver of obese mice. 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    Polyethylene microplastics do not increase bioaccumuation or toxicity of nonylphenol and 4-MBC to marine zooplankton

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    Global production of synthetic polymers, led by polyethylene (PE), rose steadily in the last decades, and marine ecosystems are considered as a global sink. Although PE is not biodegradable, in coastal areas it fragments into microplastics (MP) readily taken up by biota, and have been postulated as vectors of hydrophobic chemicals to marine organisms. We have tested this hypothesis using two organisms representative of the marine plankton, the holoplanktonic copepod Acartia clausi, and the meroplanktonic larva of the Paracentrotus lividus sea-urchin, and two model chemicals with similar hydrophobic properties, the 4-n-Nonylphenol and the 4-Methylbenzylidene-camphor used as plastic additive and UV filter in cosmetics. Both test species actively ingested the MP particles. However, the presence of MP never increased the bioaccumulation of neither model chemicals, nor their toxicity to the exposed organisms. Bioaccumulation was a linear function of waterborne chemical disregarding the level of MP. Toxicity, assessed by the threshold (EC10) and median (EC50) effect levels, was either independent of the level of MP or even in some instances significantly decreased in the presence of MPs. These consistent results challenge the assumption that MP act as vectors of hydrophobic chemicals to planktonic marine organismsThis study has received funding by the Spanish Government (MINECO/AEI) through Projects PCIN-2015-187-C03-03 (JPI Oceans EPHEMARE), PCIN-2015-170-C02-01 (JPI Oceans BASEMAN), CTM2016-77945-C3, and CTM2017-84763-C3-2-R, by Xunta de Galicia through “Program of Consolidation and structuring of competitive research groups in the University system of Galicia” (Refs GRC2013-004, ED431C 2017/28 and ED431C 2017/36), and by the European Union through the European Regional Development Fund (ERDF). N. S.-G. was granted with a postdoctoral fellowship Mod. A (2016) by Axencia Galega de Innovación (GAIN), Xunta de GaliciaS

    Evaluación del estado nutricional al ingreso y evolución tras siete días de hospitalización en un hospital de segundo nivel de Madrid.

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    Introducción: la desnutrición hospitalaria es un problema de alta prevalencia y continúa siendo a día de hoy una asignatura pendiente, ya que a menudo pasa desapercibida para el personal sanitario, con las consiguientes repercusiones clínicas negativas que esto conlleva. Objetivos: a) evaluar el estado nutricional al ingreso; b) conocer la evolución tras una semana de hospitalización; c) analizar la relación entre el estado nutricional y distintas variables clínicas (especialidades, edad, pérdida de peso corporal, estancia media, reingresos e interconsultas al servicio de endocrinología-nutrición). Métodos: estudio observacional, prospectivo, analítico y aleatorio de 260 pacientes de servicios médicos y quirúrgicos, evaluados nutricionalmente al ingreso y tras siete días de hospitalización mediante la VGS y la NRS-2002. Resultados: la prevalencia al ingreso según la VGS fue del 48 % y según la NRS-2002 del 38,5 %. Tras una semana de hospitalización, la prevalencia aumentó al 72,5 % y el 58,8 %, respectivamente. Tras siete días, en el 2-7,8 % mejoró el estado nutricional; en cambio, en el 16-27,5 % empeoró. La desnutrición al ingreso se asoció con estancias más prolongadas (6 días los normonutridos frente a 8 días los desnutridos); con una mayor edad (64 años los normonutridos frente a 71 años los desnutridos); con las especialidades médicas más que con las quirúrgicas (44-53 % vs. 20-32 %); con la pérdida de peso (al ingresar habían perdido 2,1 kg de media respecto al peso habitual y 0,9 kg tras siete días de hospitalización); y con los reingresos prematuros (8-11 % los normonutridos frente a 27 % los desnutridos), entre otros. Conclusiones: los resultados hallados nos ofrecen una panorámica de la desnutrición hospitalaria, mostrando cómo evolucionan nutricionalmente los pacientes durante los ingresos y cuáles son los momentos cruciales de actuación. Es sumamente importante que el personal sanitario se conciencie y tome medidas.post-print791 K

    The Short Form of the Fonseca Anamnestic Index for the Screening of Temporomandibular Disorders: Validity and Reliability in a Spanish-Speaking Population

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    The Short Form of the Fonseca Anamnestic Index (SFAI) is a simple and quick questionnaire used for screening temporomandibular disorders (TMDs). The present study aimed to validate the Spanish version of the SFAI in patients with TMDs. The study sample comprised 112 subjects (50 TMDs and 52 controls). Test–retest reliability, factorial validity, internal consistency, concurrent validity, and the SFAI’s ability to discriminate between TMDs subjects and healthy controls were analyzed using the Diagnostic Criteria for Temporomandibular Disorders (DC/TMD protocol) as the reference. Factor analysis showed a single factor that explained 63% of the total variance. Cronbach’s alpha was 0.849. The reliability of the items measured with the Kappa index showed values from 0.767 to 0.888. Test–retest reliability was substantial (intraclass correlation coefficient = 0.837). The total SFAI score showed a significant correlation with orofacial pain, vertigo, and neck disability measurements. For a cut-off point of >10 points, the SFAI showed a sensitivity of 78% and specificity of 78.85% at differentiating between TMDs patients and healthy subjects, with an area under the curve (AUC) of 0.852. The Spanish version of the SFAI is a valid and reliable instrument for diagnosing people with TMDs and shows generally good psychometric properties

    Características de la personalidad según el género en universitarios españoles

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    Gender differences in personality, optimism and stress coping were analysed in a group of Spanish college students.  Specific characteristics in these variables would be found, which will propose specific interventions. Three hundred and seventeen college students, 51 men and 266 women completed several personality questionnaires: The shorter version of  Eysenck Personality Questionnaire (EPQ-R), the Coping Strategies Inventory  (CSI), Revised Life Orientation Test (LOT-R), the Neo Five-Factor Inventory (NEO FFI), the Transparent Bipolar Inventory and the Berkeley Personality Profile. Statistically significant gender differences in social avoidance of coping skills scale and neuroticism of Eysenck Scale and Bipolar Inventory were founded. Men showed highest social avoidance and neuroticism based on Eysenck scale and no differences in other dimensions evaluated were showed. Finally, men tend to use avoidant coping, whereas neuroticism results are not consistent.En este artículo analizamos las diferencias de género de un grupo de estudiantes en relación a la personalidad, el optimismo y el afrontamiento al estrés, con el fin de conocer las características específicas de este colectivo en estas variables y si se mantienen las diferencias que apuntan otros estudios, lo cual permitirá proponer intervenciones específicas. En este estudio han participado 317 estudiantes universitarios, 51 varones y 266 mujeres, a los que se les aplicaron de forma individual diferentes instrumentos: el Cuestionario de personalidad de Eysenck (EPQ-R) en su versión abreviada, el Inventario de Afrontamiento al Estrés (CSI), el Test de Orientación Vital Revisado (LOT-R), el Inventario Neo de Cinco Factores (NEO FFI), el Inventario Bipolar de Goldberg, y el Perfil de Personalidad de Berkeley. A partir de los análisis de diferencias de género, se encontraron diferencias estadísticamente significativas en la Variable Retirada Social del Inventario de Estrategias de Afrontamiento, la variable neuroticismo del Cuestionario de Personalidad de Eysenck y la variable neuroticismo del Inventario Bipolar de Goldberg, siendo en los varones mayor en las dos primeras y menor en la última, no encontrándose diferencias en el resto de dimensiones evaluadas. Finalmente, parece que los varones tienden a afrontar de forma evitativa, mientras que en el caso del neuroticismo los resultados no son consistentes

    La situación de las personas mayores en el municipio de Zamora

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    El informe que se presenta es el resultado de la investigación sobre la situación de las personas mayores en el municipio de Zamora, realizada por un equipo de docentes e investigadores procedentes de áreas de conocimiento afines y complementarias (Sociología, Educación Social, Trabajo Social y Comunicación), que ha trabajado de manera muy activa para alcanzar los objetivos previstos en el convenio de colaboración entre BREAMO EDITORIAL, S.L. y la Universidad de Salamanca a través, en este caso, del Grupo de Investigación Reconocido (GIR) “Sociedad, Educación, Violencia e Infancia”.La investigación sobre la situación de las personas mayores en el municipio de Zamora que aquí se presenta concuerda con las preocupaciones de la Red Mundial de Ciudades y Comunidades Adaptadas a las Personas Mayores, proyecto promovido por la Organización Mundial de la Salud (OMS)1. Basada en este enfoque de la OMS hacia el envejecimiento activo, se trata de que las ciudades se comprometan a ser más amigables con la edad, con el fin de aprovechar el potencial que representan las personas mayores mediante la optimización de las oportunidades de salud, participación y seguridad. Y todo ello con el objetivo de mejorar la calidad de vida de las personas a medida que envejecen. Por consiguiente, tanto el objetivo como la descripción y las características técnicas de las diferentes fases de la investigación, que se presentan en los siguientes apartados, deben entenderse en este contexto tan ambicioso

    Adelante / Endavant

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    Séptimo desafío por la erradicación de la violencia contra las mujeres del Institut Universitari d’Estudis Feministes i de Gènere "Purificación Escribano" de la Universitat Jaume
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