Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas

Multiple osteochondromas is an autosomal dominant skeletal disorder characterized by the formation of multiple cartilage-capped tumours. Two causal genes have been identified, EXT1 and EXT2, which account for 65% and 30% of cases, respectively. We have undertaken a mutation analysis of the EXT1 and EXT2 genes in 39 unrelated Spanish patients, most of them with moderate phenotype, and looked for genotype-phenotype correlations. We found the mutant allele in 37 patients, 29 in EXT1 and 8 in EXT2. Five of the EXT1 mutations were deletions identified by MLPA. Two cases of mosaicism were documented. We detected a lower number of exostoses in patients with missense mutation versus other kinds of mutations. In conclusion, we found a mutation in EXT1 or in EXT2 in 95% of the Spanish patients. Eighteen of the mutations were novel.

Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas

Multiple osteochondromas is an autosomal dominant skeletal disorder characterized by the formation of multiple cartilage-capped tumours. Two causal genes have been identified, EXT1 and EXT2, which account for 65% and 30% of cases, respectively. We have undertaken a mutation analysis of the EXT1 and EXT2 genes in 39 unrelated Spanish patients, most of them with moderate phenotype, and looked for genotype-phenotype correlations. We found the mutant allele in 37 patients, 29 in EXT1 and 8 in EXT2. Five of the EXT1 mutations were deletions identified by MLPA. Two cases of mosaicism were documented. We detected a lower number of exostoses in patients with missense mutation versus other kinds of mutations. In conclusion, we found a mutation in EXT1 or in EXT2 in 95% of the Spanish patients. Eighteen of the mutations were novel.

Binary proposal for assessing quality of Open Access Institutional Repositories : the case of Spanish repositories

The reason for this study is to propose a new quantitative approach on how to assess the quality of Open Access University Institutional Repositories. The results of this new approach are tested in the Spanish University Repositories. The assessment method is based in a binary codification of a proposal of features that objectively describes the repositories. The purposes of this method are assessing the quality and an almost automatically system for updating the data of the characteristics. First of all a database was created with the 38 Spanish institutional repositories. The variables of analysis are presented and explained either if they are coming from bibliography or are a set of new variables. Among the characteristics analyzed are the features of the software, the services of the repository, the features of the information system, the Internet visibility and the licenses of use. Results from Spanish universities ARE provided as a practical example of the assessment and for having a picture of the state of the development of the open access movement in Spain.

Work Organization Practices for Lean Production: A Study in Spanish and Brazilian Manufacturers

This work aims to discuss particular work organization practices in human resources reported as successful by companies adopting lean production principles, and investigate them through real examples observed on manufacturing plants in Spain and Brazil. A set of work organization practices was previously established by one of the authors, through interviews with practitioners of lean production and review of the literature. A series of visits and informal interviews at Spanish and Brazilian automotive parts manufacturers that follow lean production were conducted to verify that the set of policies are indeed practiced.

Handbook for the design of intercultural policies: summary of the original Spanish version

Local governments need minimum common criteria to manage the social dynamics of diversity. This Handbook defends the strategy of interculturality as a public political approach, based on a way to interpret interculturality as a positive resource, as a public cultural and a collective good. It is an approach that promotes the equitative interaction as a way to generate a cohesive common public space. This Handbook provides the reader with the conceptual and practical instruments to help (and inspire) those territories which would like to integrate interculturality as an urban project.It aims to serve as a ground for discussion to jointly work in local administrations and other government levels, fororganizations and institutions, as well as for cultural, political and citizens collectives. Results are presented asan action by the Red de Ciudades Interculturales (RECI), within the Intercultural Cities framework by the Councilof Europe, with the collaboration of Obra Social "La Caixa".

How Spanish in an American film is rendered in translation: dubbing Butch Cassidy and the Sundance Kid in Spain

This is a case study of the Spanish dubbed version of Butch Cassidy and the Sundance Kid (George Roy Hill 1969) to illustrate and further develop the concept of L3 as a language that appears in source texts and their translations. L3 is distinguishable from the main language(s), L1 for the source text and L2 for the translation, based on a model proposed by Corrius and Zabalbeascoa 2011, and Corrius 2008. The study reveals various possible ways of rendering L3 in translation, in particular when L3 happens to coincide with L2. It also looks into the effect that certain translation solutions may have on intratextual translation and metatranslation.

Are R&D collaborative agreements persistent at the firm level? Empirical evidence for the Spanish case

We provide evidence on the dynamics in firms’ R&D cooperation behaviour. Our main objective is to analyse if R&D collaborative agreements are persistent at the firm level, and in such a case, to study what are the main drivers of this phenomenon. R&D cooperation activities at the firm level can be persistent due to true state dependence, this implying that cooperating in a given period enhances the probability of doing it in the subsequent period and it can also be a consequence of firms’ individual heterogeneity, so that certain firms have certain characteristics that make them more likely to carry out technological alliances.

Are R&D collaborative agreements persistent at the firm level? Empirical evidence for the Spanish case

We provide evidence on the dynamics in firms’ R&D cooperation behaviour. Our main objective is to analyse if R&D collaborative agreements are persistent at the firm level, and in such a case, to study what are the main drivers of this phenomenon. R&D cooperation activities at the firm level can be persistent due to true state dependence, this implying that cooperating in a given period enhances the probability of doing it in the subsequent period and it can also be a consequence of firms’ individual heterogeneity, so that certain firms have certain characteristics that make them more likely to carry out technological alliances.

Concentrations of resveratrol and derivatives in foods and estimation of dietary intake in a Spanish population: European Prospective Investigation into Cancer and Nutrition (EPIC)-Spain cohort

Resveratrol has been shown to have beneficial effects on diseases related to oxidant and/or inflammatory processes and extends the lifespan of simple organisms including rodents. The objective of the present study was to estimate the dietary intake of resveratrol and piceid (R&P) present in foods, and to identify the principal dietary sources of these compounds in the Spanish adult population. For this purpose, a food composition database (FCDB) of R&P in Spanish foods was compiled. The study included 40 685 subjects aged 3564 years from northern and southern regions of Spain who were included in the European Prospective Investigation into Cancer and Nutrition (EPIC)-Spain cohort. Usual food intake was assessed by personal interviews using a computerised version of a validated diet history method. An FCDB with 160 items was compiled. The estimated median and mean of R&P intake were 100 and 933 mg/d respectively. Approximately, 32% of the population did not consume RΠ The most abundant of the four stilbenes studied was trans-piceid (53·6 %), followed by trans-resveratrol (20·9 %), cis-piceid (19·3 %) and cis-resveratrol (6·2 %). The most important source of R&P was wines (98·4 %) and grape and grape juices (1·6 %), whereas peanuts, pistachios and berries contributed to less than 0·01 %. For this reason the pattern of intake of R&P was similar to the wine pattern. This is the first time that R&P intake has been estimated in a Mediterranean country.