16 resultados para Xavier Mauméjean

em Archivo Digital para la Docencia y la Investigación - Repositorio Institucional de la Universidad del País Vasco


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[EN] The increasing interest in eco-innovation or environmental innovation as a strategy not only to address the serious global environmental problems but also as a source of competitive advantages for companies and for the emergence of new business areas, leads us to try to identify the different factors that act as determinants of its development and adoption at the micro level.

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Background: Colorectal cancer (CRC) is a disease of complex aetiology, with much of the expected inherited risk being due to several common low risk variants. Genome-Wide Association Studies (GWAS) have identified 20 CRC risk variants. Nevertheless, these have only been able to explain part of the missing heritability. Moreover, these signals have only been inspected in populations of Northern European origin. Results: Thus, we followed the same approach in a Spanish cohort of 881 cases and 667 controls. Sixty-four variants at 24 loci were found to be associated with CRC at p-values <10-5. We therefore evaluated the 24 loci in another Spanish replication cohort (1481 cases and 1850 controls). Two of these SNPs, rs12080929 at 1p33 (P-replication=0.042; P-pooled=5.523x10(-03); OR (CI95%)=0.866(0.782-0.959)) and rs11987193 at 8p12 (P-replication=0.039; P-pooled=6.985x10(-5); OR (CI95%)=0.786(0.705-0.878)) were replicated in the second Phase, although they did not reach genome-wide statistical significance. Conclusions: We have performed the first CRC GWAS in a Southern European population and by these means we were able to identify two new susceptibility variants at 1p33 and 8p12 loci. These two SNPs are located near the SLC5A9 and DUSP4 loci, respectively, which could be good functional candidates for the association signals. We therefore believe that these two markers constitute good candidates for CRC susceptibility loci and should be further evaluated in other larger datasets. Moreover, we highlight that were these two SNPs true susceptibility variants, they would constitute a decrease in the CRC missing heritability fraction.

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Query-by-Example Spoken Term Detection (QbE STD) aims at retrieving data from a speech data repository given an acoustic query containing the term of interest as input. Nowadays, it has been receiving much interest due to the high volume of information stored in audio or audiovisual format. QbE STD differs from automatic speech recognition (ASR) and keyword spotting (KWS)/spoken term detection (STD) since ASR is interested in all the terms/words that appear in the speech signal and KWS/STD relies on a textual transcription of the search term to retrieve the speech data. This paper presents the systems submitted to the ALBAYZIN 2012 QbE STD evaluation held as a part of ALBAYZIN 2012 evaluation campaign within the context of the IberSPEECH 2012 Conference(a). The evaluation consists of retrieving the speech files that contain the input queries, indicating their start and end timestamps within the appropriate speech file. Evaluation is conducted on a Spanish spontaneous speech database containing a set of talks from MAVIR workshops(b), which amount at about 7 h of speech in total. We present the database metric systems submitted along with all results and some discussion. Four different research groups took part in the evaluation. Evaluation results show the difficulty of this task and the limited performance indicates there is still a lot of room for improvement. The best result is achieved by a dynamic time warping-based search over Gaussian posteriorgrams/posterior phoneme probabilities. This paper also compares the systems aiming at establishing the best technique dealing with that difficult task and looking for defining promising directions for this relatively novel task.

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One of the major concerns in an Intelligent Transportation System (ITS) scenario, such as that which may be found on a long-distance train service, is the provision of efficient communication services, satisfying users' expectations, and fulfilling even highly demanding application requirements, such as safety-oriented services. In an ITS scenario, it is common to have a significant amount of onboard devices that comprise a cluster of nodes (a mobile network) that demand connectivity to the outside networks. This demand has to be satisfied without service disruption. Consequently, the mobility of the mobile network has to be managed. Due to the nature of mobile networks, efficient and lightweight protocols are desired in the ITS context to ensure adequate service performance. However, the security is also a key factor in this scenario. Since the management of the mobility is essential for providing communications, the protocol for managing this mobility has to be protected. Furthermore, there are safety-oriented services in this scenario, so user application data should also be protected. Nevertheless, providing security is expensive in terms of efficiency. Based on this considerations, we have developed a solution for managing the network mobility for ITS scenarios: the NeMHIP protocol. This approach provides a secure management of network mobility in an efficient manner. In this article, we present this protocol and the strategy developed to maintain its security and efficiency in satisfactory levels. We also present the developed analytical models to analyze quantitatively the efficiency of the protocol. More specifically, we have developed models for assessing it in terms of signaling cost, which demonstrates that NeMHIP generates up to 73.47% less signaling compared to other relevant approaches. Therefore, the results obtained demonstrate that NeMHIP is the most efficient and secure solution for providing communications in mobile network scenarios such as in an ITS context.

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Background: Lynch syndrome (LS) is an autosomal dominant inherited cancer syndrome characterized by early onset cancers of the colorectum, endometrium and other tumours. A significant proportion of DNA variants in LS patients are unclassified. Reports on the pathogenicity of the c.1852_1853AA>GC (p.Lys618Ala) variant of the MLH1 gene are conflicting. In this study, we provide new evidence indicating that this variant has no significant implications for LS. Methods: The following approach was used to assess the clinical significance of the p.Lys618Ala variant: frequency in a control population, case-control comparison, co-occurrence of the p.Lys618Ala variant with a pathogenic mutation, co-segregation with the disease and microsatellite instability in tumours from carriers of the variant. We genotyped p.Lys618Ala in 1034 individuals (373 sporadic colorectal cancer [CRC] patients, 250 index subjects from families suspected of having LS [revised Bethesda guidelines] and 411 controls). Three well-characterized LS families that fulfilled the Amsterdam II Criteria and consisted of members with the p.Lys618Ala variant were included to assess co-occurrence and co-segregation. A subset of colorectal tumour DNA samples from 17 patients carrying the p.Lys618Ala variant was screened for microsatellite instability using five mononucleotide markers. Results: Twenty-seven individuals were heterozygous for the p.Lys618Ala variant; nine had sporadic CRC (2.41%), seven were suspected of having hereditary CRC (2.8%) and 11 were controls (2.68%). There were no significant associations in the case-control and case-case studies. The p.Lys618Ala variant was co-existent with pathogenic mutations in two unrelated LS families. In one family, the allele distribution of the pathogenic and unclassified variant was in trans, in the other family the pathogenic variant was detected in the MSH6 gene and only the deleterious variant co-segregated with the disease in both families. Only two positive cases of microsatellite instability (2/17, 11.8%) were detected in tumours from p.Lys618Ala carriers, indicating that this variant does not play a role in functional inactivation of MLH1 in CRC patients. Conclusions: The p.Lys618Ala variant should be considered a neutral variant for LS. These findings have implications for the clinical management of CRC probands and their relatives.

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El objetivo de este trabajo de fin de grado, es el de tratar de determinar los factores que influyen en la demanda de pernoctaciones en una casa rural, enclavada en la comarca Uribe-Butrón, estableciendo, en base a los resultados obtenidos, estrategias de actuación para conseguir maximizar el número de visitas en la casa. Se parte de un análisis general del sector turístico en Bizkaia hasta llegar a un análisis detallado de los factores que intervienen en la demanda de pernoctaciones en la citada casa rural. Para alcanzar este objetivo, en primer lugar se contextualiza el turismo rural en Bizkaia, realizando una descripción detallada del sector y sus cifras más importantes efectuando un análisis del entorno donde está ubicada la casa rural. A pesar de no ser un sector arraigado y con larga tradición en Bizkaia y que la coyuntura económica actual no es la más propicia, siguen existiendo factores donde buscar mejorar el número de pernoctaciones en la casa rural. En el trabajo, se describe y analiza le empresa en sí y su actividad, describiendo todas las instalaciones de la casa rural y su localización.

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El objetivo de este trabajo de fin de grado, es el de tratar de determinar los factores que influyen en la demanda de pernoctaciones en una casa rural, enclavada en la comarca Uribe-Butrón, estableciendo, en base a los resultados obtenidos, estrategias de actuación para conseguir maximizar el número de visitas en la casa. Se parte de un análisis general del sector turístico en Bizkaia hasta llegar a un análisis detallado de los factores que intervienen en la demanda de pernoctaciones en la citada casa rural. Para alcanzar este objetivo, en primer lugar se contextualiza el turismo rural en Bizkaia, realizando una descripción detallada del sector y sus cifras más importantes efectuando un análisis del entorno donde está ubicada la casa rural. A pesar de no ser un sector arraigado y con larga tradición en Bizkaia y que la coyuntura económica actual no es la más propicia, siguen existiendo factores donde buscar mejorar el número de pernoctaciones en la casa rural. En el trabajo, se describe y analiza le empresa en sí y su actividad, describiendo todas las instalaciones de la casa rural y su localización.

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Cap. 1. La reinvención del museo etnológico. Xavier Roigé i Ventura Cap. 2. La mise en patrimoine du catharisme. Enjeux de territoire, enjeux d’identité. Marie-Carmen Garcia. Cap. 3. Más allá del museo. Las activaciones económicas del patrimonio: de los parques naturales a las fiestas temáticas. Agustí Andreu i Tomàs. Cap. 4. La patrimonialización de un territorio a través de los museos etnográficos: el caso de Extremadura. Aniceto Delgado Méndez. Cap. 5. La situación de los museos, colecciones, centros de interpretación y otros equipamientos patrimoniales del Alto Pirineo catalán. Jordi Abella Pons. Cap. 6. Patrimonio, conocimiento y dinamización. Una experiencia de trabajo en el Priorat (Catalunya). Salvador Palomar. Cap. 7. Experiencias de desarrollo local en el Pirineo aragonés basadas en la valorización del patrimonio. Aurelio García Gállego. Cap. 8. Las dimensiones sociales y culturales del patrimonio edificado: una propuesta para su estudio. Iñaki Arrieta Urtizberea.

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In estrogen receptor-negative breast cancer patients, metastatic relapse usually occurs in the lung and is responsible for the fatal outcome of the disease. Thus, a better understanding of the biology of metastasis is needed. In particular, biomarkers to identify patients that are at risk of lung metastasis could open the avenue for new therapeutic opportunities. Here we characterize the biological activity of RARRES3, a new metastasis suppressor gene whose reduced expression in the primary breast tumors identifies a subgroup of patients more likely to develop lung metastasis. We show that RARRES3 downregulation engages metastasis-initiating capabilities by facilitating adhesion of the tumor cells to the lung parenchyma. In addition, impaired tumor cell differentiation due to the loss of RARRES3 phospholipase A1/A2 activity also contributes to lung metastasis. Our results establish RARRES3 downregulation as a potential biomarker to identify patients at high risk of lung metastasis who might benefit from a differentiation treatment in the adjuvant programme.

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Colorectal cancer is one of the most frequent neoplasms and an important cause of mortality in the developed world. Mendelian syndromes account for about 5% of the total burden of CRC, being Lynch syndrome and familial adenomatous polyposis the most common forms. Lynch syndrome tumors develop mainly as a consequence of defective DNA mismatch repair associated with germline mutations in MLH1, MSH2, MSH6 and PMS2. A significant proportion of variants identified by screening these genes correspond to missense or noncoding changes without a clear pathogenic consequence, and they are designated as "variants of uncertain significance'', being the c.1852_1853delinsGC (p.K618A) variant in the MLH1 gene a clear example. The implication of this variant as a low-penetrance risk variant for CRC was assessed in the present study by performing a case-control study within a large cohort from the COGENT consortium-COST Action BM1206 including 18,723 individuals (8,055 colorectal cancer cases and 10,668 controls) and a case-only genotype-phenotype correlation with several clinical and pathological characteristics restricted to the Epicolon cohort. Our results showed no involvement of this variant as a low-penetrance variant for colorectal cancer genetic susceptibility and no association with any clinical and pathological characteristics including family history for this neoplasm or Lynch syndrome.

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[ES] Durante la primera mitad del siglo XX se realizaron amplias excavaciones arqueológicas en la cueva de Isturitz que aportaron abundantes evidencias industriales y artísticas. En este artículo se trata de dar a la luz una obra de arte mueble que permanece inédita, en concreto una pareja de osos fabricados sobre una costilla, y que procede del nivel magdaleniense de la colección Saint-Périer.

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[ES] La reciente excavación de la cueva de Praile Aitz I (Deba) ha identificado sucesivas breves ocupaciones del Tardiglaciar. Se estudian los materiales arqueológicos más significativos del Magdaleniense Inferior recuperados sobre un suelo preparado con cantitos de caliza. En él se localizaron, además de restos industriales líticos y faunísticos que no trataremos en esta ocasión, las siguientes evidencias: una azagaya, restos de ocre y un interesante lote de colgantes (cuatro cantos rodados perforados y tres incisivos de cabra con doble perforación).

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Il y a aussi des chapitres en français. There are also chapters in English. Cap. 1. El complicado arte de exponer. Iñaki Arrieta Urtizberea. Cap. 2. “Esta exposición no es para este museo”. Las salas permanentes del Museu Valencià d’Etnologia. Joan Segui. Cap. 3. Debunking, Decentralizing and Dissonance: Cultural Jamming @ Museum of Vancouver. Viviane Gosselin. Cap. 4. L’exposition des objets de cultures autochtones aujourd’hui, gain ou perte de sens? Le cas de l’exposition « C’est notre histoire... » au Musée de la civilisation de Québec. Daniel Arsenault et Nadine Desbiens. Cap. 5. El Born de Barcelona: exposiciones conmemorativas, límites, problemas y desafíos. Francesc Xavier Hernàndez Cardona. Cap. 6. Silencios y omisiones: narrando y exhibiendo la historia nacional. Magdalena Mieri. Cap. 7. Exhibiting the Commons. The Case of Tensta konsthall. Haizea Barcenilla Garcia. Cap. 8. Interactividad y patrimonio. Retos, tendencias y líneas de futuro. Núria Serrat Antolí.