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.

Ethicus et les ouvrages cosmographiques intitulés de ce nom, mémoire lu à l'Académie des inscriptions et belles-lettres, suivi d'un appendice contenant la version latine abrégée, attribuée à saint Jérôme, d'une cosmographie supposée écrite en grec par le noble Istriote Ethicus... par M. d'Avezac,...

Comprend : Version latine abrégée, attribuée à saint Jérôme, d'une cosmographie supposée écrite en grec ; Version latine abrégée... d'une cosmographie supposée écrite en grec...

Towards a dynamic model of e-commerce: environmental, technological and organisational drivers of B2C along time

Despite the important benefits for firms of commercial initiatives on the Internet, e-commerce is still an emerging distribution channel, even in developed countries. Thus, more needs to be known about the mechanisms affecting its development. A large number of works have studied firms¿ e-commerce adoption from technological, intraorganizational, institutional, or other specific perspectives, but there is a need for adequately tested integrative frameworks. Hence, this work proposes and tests a model of firms¿ business-to-consumer (called B2C) e-commerce adoption that is founded on a holistic vision of the phenomenon. With this integrative approach, the authors analyze the joint influence of environmental, technological, and organizational factors; moreover, they evaluate this effect over time. Using various representative Spanish data sets covering the period 1996-2005, the findings demonstrate the suitability of the holistic framework. Likewise, some lessons are learned from the analysis of the key building blocks. In particular, the current study provides evidence for the debate about the effect of competitive pressure, since the findings show that competitive pressure disincentivizes e-commerce adoption in the long term. The results also show that the development or enrichment of the consumers¿ consumption patterns, the technological readiness of the market forces, the firm¿s global scope, and its competences in innovation continuously favor e-commerce adoption.

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.

Security analysis of JXME-Proxyless version

JXME es la especificación de JXTA para dispositivos móviles con J2ME. Hay dos versiones diferentes de la aplicación JXME disponibles, cada una específica para un determinado conjunto de dispositivos, de acuerdo con sus capacidades. El principal valor de JXME es su simplicidad para crear peer-to-peer (P2P) en dispositivos limitados. Además de evaluar las funciones JXME, también es importante tener en cuenta el nivel de seguridad por defecto que se proporciona. Este artículo presenta un breve análisis de la situación actual de la seguridad en JXME, centrándose en la versión JXME-Proxyless, identifica las vulnerabilidades existentes y propone mejoras en este campo.

Complément de table de transcodage des opérations VESKA (version 1986) - ICD-9-CM

Les tables de transcodage donnent les correspondances entre codes opératoires VESKA version 1986 et codes opératoires ICD-9-CM.

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.

The Child Occupational Self Assessment (COSA, version 2.1) : lasten toimintamahdollisuuksien itsearviointi COSA:n esittely ja suomentamisprosessi

Tämän opinnäytetyön tarkoituksena on aloittaa lapsille ja nuorille suunnatun The Child Occupational Self Assessment (COSA, version 2.1) itsearviointimenetelmän suomenkielisen version käännöstyö. COSA on asiakaslähtöinen itsearviointi, jolla kartoitetaan lasten ja nuorten kokemusta toiminnallisesta pätevyydestään ja jokapäiväisten toimintojen tärkeydestä heille. COSA pohjaa Inhimillisen toiminnan malliin ja sen toteutus seuraa asiakaslähtöistä teoriaa. COSA:n avulla voidaan asettaa toimintaterapialle tavoitteet ja tarkastella niiden toteutumista. Työssämme suomennamme arviointimenetelmän nimen muotoon; Lasten toimintamahdollisuuksien itsearviointi COSA. Arviointimenetelmän käännöstyö tehdään Helsingin ammattikorkeakoulu Stadian toimintaterapian koulutusohjelmalle. Opinnäytetyössä esittelemme ensin arviointia ja tavoitteiden asettamista lasten toimintaterapiassa sekä itsearvioinnin käyttämistä arviointimenetelmänä. Esittelemme COSA itsearviointimenetelmän sekä sen taustalla vaikuttavat Inhimillisen toiminnan mallin sisällön ja asiakaslähtöisyyden. Kartoitamme myös The Child Occupational Self Assessment (COSA, version 2.1 )itsearviointimenetelmän kehittymistä, sitä edeltäneitä arviointimenetelmiä ja COSA:sta aiemmin tehtyjä tutkimuksia. Opinnäytetyössä suomennamme COSA:n arviointilomakkeen. Arviointilomakkeessa on 25 lasten ja nuorten toiminnallista pätevyyttä ja jokapäiväisten toimintojen tärkeyttä kartoittava väittämää. Suomentamisprosessissa selvitämme COSA:n arviointilomakkeen väittämien suomennosten ymmärrettävyyden onnistumista kahdeksan käyttökokeiluun ja haastatteluun osallistuvan lapsen avulla. Saimme arviointilomakkeen suomentamisprosessiin apua neljältä lasten kanssa työskentelevältä toimintaterapeutilta sekä koulutusohjelmamme koulutuspäälliköltä. Käyttökokeiluiden sekä toimintaterapeuttien palautteiden avulla viimeistelimme suomennetun arviointilomakkeen väittämät. Opinnäytetyön lopuksi pohdimme arviointilomakkeen suomentamisprosessin vaiheita sekä mahdollisia jatkotutkimusehdotuksia. Luovutimme Lasten toimintamahdollisuuksien itsearviointi COSA:n arviointilomakkeen koulutusohjelmamme käyttöön ja mahdollisten jatkotutkimusten kohteeksi.

eggNOG v4.0: nested orthology inference across 3686 organisms

With the increasing availability of various 'omics data, high-quality orthology assignment is crucial for evolutionary and functional genomics studies. We here present the fourth version of the eggNOG database (available at http://eggnog.embl.de) that derives nonsupervised orthologous groups (NOGs) from complete genomes, and then applies a comprehensive characterization and analysis pipeline to the resulting gene families. Compared with the previous version, we have more than tripled the underlying species set to cover 3686 organisms, keeping track with genome project completions while prioritizing the inclusion of high-quality genomes to minimize error propagation from incomplete proteome sets. Major technological advances include (i) a robust and scalable procedure for the identification and inclusion of high-quality genomes, (ii) provision of orthologous groups for 107 different taxonomic levels compared with 41 in eggNOGv3, (iii) identification and annotation of particularly closely related orthologous groups, facilitating analysis of related gene families, (iv) improvements of the clustering and functional annotation approach, (v) adoption of a revised tree building procedure based on the multiple alignments generated during the process and (vi) implementation of quality control procedures throughout the entire pipeline. As in previous versions, eggNOGv4 provides multiple sequence alignments and maximum-likelihood trees, as well as broad functional annotation. Users can access the complete database of orthologous groups via a web interface, as well as through bulk download.

Orientalisme, colonialisme i gènere. ‘El Marroc sensual i fanàtic’ d'Aurora Bertrana

Els autors s’endinsen en aquest article en l’estudi de les relacions entre geografia, orientalisme i colonialisme a Europa al tombant del segle passat, tot introduint la perspectiva de gènere i en el marc d'un interès més general per la història del pensament geogràfic contemporani. Ho fan a partir de l’anàlisi contextualitzada d'un text de l’època que fa referència al cas espanyol i a la seva aventura colonial africana. Es tracta del llibre El Marroc sensual i fanàtic (1936) d’Aurora Bertrana, una versió molt elaborada del discurs de la diferència i una bona il•lustració de la literatura de viatges de dones europees, força excepcional i atípica -això sí- en el context literari català i espanyol de l’època

Correlating trainees' translating performance with the quality of their metacognitive self-evaluation

This paper presents a study of correlations between the performance of trainee translators, according to their teacher’s assessment, and the quality of their self-evaluation, according to their answers to metacognitive questionnaires. Two case-studies of two consecutive editions of a course in general translation from German into Spanish are dealt with. The course involved the use of post-translation metacognitive questionnaires designed to help trainees to evaluate their translating. A selection of the questionnaires (from the strongest and the weakest performances by students for each course edition) is considered. The study focuses on one item in these questionnaires that has to do with identifying translation problems and justifying their solutions. An interpretive analysis of the trainees’ answers for this questionnaire item reveals that the best-performing students were more strategically and translationally aware in self-evaluating their own translating. Our conclusions are based on considering six parameters from the analysis of the trainees’ answers, which are tentatively regarded as indicative of the quality of their self-evaluation.

Language variation in source texts and their translations: the case of L3 in film translation

In addition to the two languages essentially involved in translation, that of the source text (L1) and that of the target text (L2), we propose a third language (L3) to refer to any other language(s) found in the text. L3 may appear in the source text (ST) or the target text (TT), actually appearing more frequently inSTs in our case studies. We present a range of combinations for the convergence and divergence of L1, L2 and L3, for the case of feature films and their translations using examples from dubbed and subtitled versions of films, but we are hopeful that our tentative conclusions may be relevant to other modalities of translation, audiovisual and otherwise. When L3 appears in an audiovisual ST,we find a variety of solutions whereby L3 is deleted from or adapted to the TT.In the latter case, L3 might be rendered in a number of ways, depending on factors such as the audience’s familiarity with L3, and the possibility that L3 inthe ST is an invented language.

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.