Modelo de solicitud de documentación sobre la Guerra Civil del 36 elaborado por el Centro Vasco de Caracas.

Fecha: >1970 / Unidad de instalación: Carpeta 48 - Expediente 7-14 / Nº de pág.: 3 (mecanografiadas)

A short in-frame deletion in NTRK1 tyrosine kinase domain caused by a novel splice site mutation in a patient with congenital insensitivity to pain with anhidrosis

Background: Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive genetic disease characterized by the lack of reaction to noxious stimuli and anhidrosis. It is caused by mutations in the NTRK1 gene, which encodes the high affinity tyrosine kinase receptor I for Neurotrophic Growth Factor (NGF). -- Case Presentation: We present the case of a female patient diagnosed with CIPA at the age of 8 months. The patient is currently 6 years old and her psychomotor development conforms to her age (RMN, SPECT and psychological study are in the range of normality). PCR amplification of DNA, followed by direct sequencing, was used to investigate the presence of NTRK1 gene mutations. Reverse transcriptase (RT)-PCR amplification of RNA, followed by cloning and sequencing of isolated RT-PCR products was used to characterize the effect of the mutations on NTRK1 mRNA splicing. The clinical diagnosis of CIPA was confirmed by the detection of two splice-site mutations in NTRK1, revealing that the patient was a compound heterozygote at this gene. One of these alterations, c.574+1G > A, is located at the splice donor site of intron 5. We also found a second mutation, c.2206-2 A > G, not previously reported in the literature, which is located at the splice acceptor site of intron 16. Each parent was confirmed to be a carrier for one of the mutations by DNA sequencing analysis. It has been proposed that the c.574+1G > A mutation would cause exon 5 skipping during NTRK1 mRNA splicing. We could confirm this prediction and, more importantly, we provide evidence that the novel c.2206-2A > G mutation also disrupts normal NTRK1 splicing, leading to the use of an alternative splice acceptor site within exon 17. As a consequence, this mutation would result in the production of a mutant NTRK1 protein with a seven aminoacid in-frame deletion in its tyrosine kinase domain. --Conclusions: We present the first description of a CIPA-associated NTRK1 mutation causing a short interstitial deletion in the tyrosine kinase domain of the receptor. The possible phenotypical implications of this mutation are discussed.

SEM and EDS Characterisation of Layering TiOx Growth onto the Cutting Tool Surface in Hard Drilling Processes of Ti-Al-V Alloys

10 p.

Las barreras a la integración interfuncional y su relación con el rendimiento de los nuevos productos en las empresas innovadoras españolas

[ES] En este trabajo se analiza la relación entre la integración interfuncional y el rendimiento de los nuevos productos en una muestra de empresas innovadoras españolas. Las percepciones de los directivos de I+D, marketing, producción y otras áreas permiten comprobar que la falta de apoyo de la alta dirección y la distancia física entre áreas son dos barreras significativas a la integración interfuncional. Además, los directivos perciben que la integración interfuncional está relacionada con el rendimiento del programa de desarrollo de nuevos productos. Los resultados apoyan la mayoría de las hipótesis planteadas y son coherentes con las investigaciones previas sobre el tema. También se plantean las implicaciones que para la dirección tienen estos resultados y algunas líneas de investigación futuras.

Desarrollo de nuevos productos: caso Grupo «Industrias Alimentarias de Navarra»

Una versión preliminar de este caso fue presentada como ponencia en el «Second European Conference on Management of Technology» (EUROMOT), celebrado en septiembre de 2006 en Birmingham.

Las políticas públicas de la Unión Europea ante el despertar económico del gigante chino

x, 386 p.: graf.

Análisis de una experiencia de formación permanente en el deporte escolar a través de un programa de habilidades sociales

546 p.:il.

Una historia de España audiovisual y joseantoniana

[EN] The paper analyses a very interesting documentary film about the ancient history of Spain from a franquist, more specifically, falangist point of view (“Nueva Visión de la Historia). It was based on a book about the history of Spain written by a member of Falange, the fascist group in Spain, Antonio Almagro, and was intended as a formative instrument for the youth in the late forties or early fifties. We know only the episodes dealing with Ancient Spain (probably the only ones shot), 25 minutes in all, and it represents an outstanding example of an hyper-nationalistic and hyper-catholic perspective of Spanish history. It also shows a very sympathetic image of José Antonio, the leader of Falange, but, remarkably enough, not of Franco. The film also includes a “theoretical” Introduction about the notion of History.

Using network mesures to test evolved NK-landscapes

In this paper we empirically investigate which are the structural characteristics that can help to predict the complexity of NK-landscape instances for estimation of distribution algorithms. To this end, we evolve instances that maximize the estimation of distribution algorithm complexity in terms of its success rate. Similarly, instances that minimize the algorithm complexity are evolved. We then identify network measures, computed from the structures of the NK-landscape instances, that have a statistically significant difference between the set of easy and hard instances. The features identified are consistently significant for different values of N and K.

Two Nuclear Localization Signals in USP1 Mediate Nuclear Import of the USP1/UAF1 Complex

9 p. : il.

Detección de límites arquitectónicos en edificios históricos combinando imágenes digitales con nubes de puntos

[ES] El proyecto estudia algoritmos de detección de bordes aplicados a imágenes fotográficas y procedentes de nubes de puntos, posteriormente combina los resultados y analiza las posibilidades de mejora de la solución conjunta.

Data analysis advances in marine science for fisheries management : supervised classification application

169 p. : il. col.

A review of travel time estimation and forecasting for advanced traveler information systems

Providing on line travel time information to commuters has become an important issue for Advanced Traveler Information Systems and Route Guidance Systems in the past years, due to the increasing traffic volume and congestion in the road networks. Travel time is one of the most useful traffic variables because it is more intuitive than other traffic variables such as flow, occupancy or density, and is useful for travelers in decision making. The aim of this paper is to present a global view of the literature on the modeling of travel time, introducing crucial concepts and giving a thorough classification of the existing tech- niques. Most of the attention will focus on travel time estimation and travel time prediction, which are generally not presented together. The main goals of these models, the study areas and methodologies used to carry out these tasks will be further explored and categorized.

Clasificadores supervisados para predecir la abstinencia a 12 meses en fumadores tratados con vareniclina

Tesis leida dentro del Master de "Ingeniería Computacional y Sistemas Inteligentes"

Estudio de investigación de las competencias demandadas y del perfil profesional requerido a los titulados de la Escuela Universitaria de Ingeniería de Vitoria-Gasteiz

A partir del análisis del perfil del ingeniero en la sociedad europea, se ha elaborado una encuesta amplia mediante la que se solicitó a las empresas del entorno las competencias y materias que consideraban más importantes en la formación de los ingenieros de las titulaciones ofertadas en la Escuela. A partir de los resultados de dichas encuestas, se establece un perfil requerido a los titulados.