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.

Frame-level features conveying phonetic information for language and speaker recognition

150 p.

Frame presentations: variants of the reals, rings of functions, their Dedekind completions, and the unit circle

176 p.

Strategic Interaction and Conventions

The scope of the paper is the literature that employs coordination games to study social norms and conventions from the viewpoint of game theory and cognitive psychology. We claim that those two alternative approaches are complementary, as they provide different insights to explain how people converge to a unique system of self-fulfilling expectations in presence of multiple, equally viable, conventions. While game theory explains the emergence of conventions relying on efficiency and risk considerations, the psychological view is more concerned with frame and labeling effects. The interaction between these alternative (and, sometimes, competing) effects leads to the result that coordination failures may well occur and, even when coordination takes place, there is no guarantee that the convention eventually established will be the most efficient.

El valor de marca: perspectivas de análisis y criterios de estimación

[ES] A lo largo de la última década, se ha originado un importante debate acerca de lo que debe entenderse por valor de marca. En la delimitación de este concepto se han utilizado varias perspectivas de análisis y criterios de estimación muy diferentes, de ahí que aún exista sobre este tema una excesiva ambigüedad. En este trabajo se presenta un marco teórico donde se contemplan distintas perspectivas de estudio y varios criterios de estimación del valor de marca. A partir de este marco, se analizan empíricamente siete criterios de estimación de acuerdo con la información recogida de una muestra de usuarios sobre seis marcas de zapatillas de deporte. Con ello se pretende contribuir a un mejor conocimiento del concepto de valor de marca.

Apuntes jurídicos sobre el paisaje lingüístico en Euskal Herria

This paper is a study of place-names and signs in the Basque Country from the point of view of language law. These are matters that relate to both the status and corpus of language and contribute to the formation of the language landscape,» After a brief historical introduction, the author focuses on the factors that bear on signs and the language 1andscape: the cornpetence factor and the language factor. The description of the latter leads the author to a discussion of the existing language system, in which the Spanish and Basque sharing official status does not necessarily entail the obligation to use both languages at the same time. Using this discussion as a frame of reference, the au- thor analyses place-names, traffic signals and signs. As for place-names, the existing rules are deemed rigid and lacking in ambition, in that they do not pursue the dissemination of official Basque forms. In traffic signaIs, Basque has to appear alongside Spanish, which is required by Spanish legislation, although this bilingualism excludes place-names that have an official Basque form only. With regard to signs, the author analyses public premises, companies licensed to provide public services and the private sector. For public premises there is no specific regulation, but the status of Basque as an autochthonous language, together with the identification and informatíon purposes of signs, could support the exclusive use of this language, According to the author , companies licensed to provide public services should observe the same language system as the goverment and therefore promote the use of Basque. Finally, in the private sector, the author upholds the legitimacy of measures to promote Basque language use such as tax allowances and exemptions in advertising and commercial signs.

Determinantes de la intención del consumidor de ir a un destino turístico. Aplicación al caso de "Mundo Maya-México"

[ES] Cada destino turístico tiene una marca que puede elegir el consumidor a la hora de viajar. Este trabajo examina, a través de un modelo causal que contrastamos empíricamente para el caso de Mundo Maya-México, el papel que desempeña la reputación, las emociones y la confianza en la intención de compra de los consumidores de un destino turístico.

La gestión empresarial como factor clave de desarrollo de las spin-offs universitarias. Análisis organizativo y financiero

[ES] En las últimas décadas el número de spin-offs universitarias creadas en el Sistema Universitario Español ha aumentado considerablemente; sin embargo, estas empresas tienen que hacer frente a problemas como la falta de financiación o de capacidades empresariales por parte de los fundadores. A partir de los datos extraídos de una encuesta a 72 spin-offs creadas en España, tratamos de detectar y analizar cuáles son los problemas más habituales con los que se encuentran estas empresas, y proponemos posibles vías de solución.

La gestión de la innovación como la gestión de un ecosistema heterogéneo y estructurado

[ES] Este artículo aborda la innovación como un proceso evolutivo que toma lugar en un ecosistema heterogéneo estructurado. Esto permite entender la gestión de la innovación como la gestión de las interacciones en un ecosistema que se quiere modificar.

Oracles for audio chord estimation

This paper explores how audio chord estimation could improve if information about chord boundaries or beat onsets is revealed by an oracle. Chord estimation at the frame level is compared with three simulations, each using an oracle of increasing powers. The beat and chord segments revealed by an oracle are used to compute a chord ranking at the segment level, and to compute the cumulative probability of finding the correct chord among the top ranked chords. Oracle results on two different audio datasets demonstrate the substantial potential of segment versus frame approaches for chord audio estimation. This paper also provides a comparison of the oracle results on the Beatles dataset, the standard dataset in this area, with the new Billboard Hot 100 chord dataset.

Sobre la "religio" de los pueblos del NW durante el alto imperio: algunas observaciones

Presentado en: Acta Palaeohispanica, IX. Actas del IX Coloquio sobre Lenguas y Culturas Palaeohispánicas. Barcelona, 20-24 de octubre de 2004

Music-Theoretic Estimation of Chords and Keys from Audio

This paper proposes a new method for local key and chord estimation from audio signals. This method relies primarily on principles from music theory, and does not require any training on a corpus of labelled audio files. A harmonic content of the musical piece is first extracted by computing a set of chroma vectors. A set of chord/key pairs is selected for every frame by correlation with fixed chord and key templates. An acyclic harmonic graph is constructed with these pairs as vertices, using a musical distance to weigh its edges. Finally, the sequences of chords and keys are obtained by finding the best path in the graph using dynamic programming. The proposed method allows a mutual chord and key estimation. It is evaluated on a corpus composed of Beatles songs for both the local key estimation and chord recognition tasks, as well as a larger corpus composed of songs taken from the Billboard dataset.

[R_Enciso_Concepcion] Levantamiento topográfico de la ermita y el crucero de la Concepción (Enciso, La Rioja)

[ES] Este proyecto tiene una continuación en el siguiente registro:

Contributions to unsupervised and supervised learning with applications in digital image processing

311 p. : il.

Raumfigurationen und Macht in Atemschaukel

[EN] Atemschaukel approaches the falling apart and survival in a historically loaded space, such as a labour camp. This novel offers a relevant research field for the space analysis, focused from the perspective of the Spatial Turn, as not only this theoretical frame but also Herta Müller herself conceive of space as a process, unterstood as a reciprocal interaction with the social practice, thus as a spatial and social construct. The representation of space in Atemschaukel is described in this article as a “swinging movement between boxes and abyss”, where the discourse of Leopold Auberg’s memories oscillates between closed and square spaces, on one hand, and open and giddy spaces, on the other hand. In this oscillating movement it is the open spaces that will most clearly show the process of inner destruction of the subject in such oppressive situations as on labour camps, as well as the permanent damages of deportation.