Structural Basis for Feed-Forward Transcriptional Regulation of Membrane Lipid Homeostasis in Staphylococcus aureus

11 p.

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.

Valoración de la Cooperación Inter-empresarial en las Microempresas del Municipio de Murcia, proyectos Micro y e-Micro (2002-2007)

[ES] El marco teórico del trabajo tiene como finalidad explicar los procesos de cooperación diseñados para las microempresas, con el propósito de establecer propuestas y argumentos para la formación de acuerdos, identificar los factores que afectan el desarrollo de los mismos, así como los sistemas de innovación nacional, regional y local para la animación de la cooperación entre firmas. Con ello, se propone una metodología para promover la cooperación entre microempresas, coordinada por agentes locales y la administración pública de los proyectos Micro y e-Micro (2002-2007) de la ciudad de Murcia.

Student Engagement in the School: Interpersonal and Inter-Center Differences

Traducido al castellano e inglés

Keys to success in an example of inter-competitor cooperation: The case of the "Big Seven" basque chefs

The case of the top chefs relates the two areas that are apparently most distant, nutrition and health technology. It is the element that binds[3] the four, making them into a single whole. The results achieved by our chefs, in terms of their individual and collective success and their international projection of the image of the Basque Country comprise a goal to which other industries in the region should aspire. It is therefore our plan to apply the keys to this successful inter-competitor cooperation to development of the health technology industry. At the same time, we want to fulfil one of the aims that have been established for the food area: to make use of the country’s gastronomy-related assets.

Towards multilingual domain module acquisition

Máster y Doctorado en Sistemas Informáticos Avanzados, Informatika Fakultatea - Facultad de Informática

Semi-automatic generation of learning domain modules for technology supported learning systems

In a time when Technology Supported Learning Systems are being widely used, there is a lack of tools that allows their development in an automatic or semi-automatic way. Technology Supported Learning Systems require an appropriate Domain Module, ie. the pedagogical representation of the domain to be mastered, in order to be effective. However, content authoring is a time and effort consuming task, therefore, efforts in automatising the Domain Module acquisition are necessary.Traditionally, textbooks have been used as the main mechanism to maintain and transmit the knowledge of a certain subject or domain. Textbooks have been authored by domain experts who have organised the contents in a means that facilitate understanding and learning, considering pedagogical issues.Given that textbooks are appropriate sources of information, they can be used to facilitate the development of the Domain Module allowing the identification of the topics to be mastered and the pedagogical relationships among them, as well as the extraction of Learning Objects, ie. meaningful fragments of the textbook with educational purpose.Consequently, in this work DOM-Sortze, a framework for the semi-automatic construction of Domain Modules from electronic textbooks, has been developed. DOM-Sortze uses NLP techniques, heuristic reasoning and ontologies to fulfill its work. DOM-Sortze has been designed and developed with the aim of automatising the development of the Domain Module, regardless of the subject, promoting the knowledge reuse and facilitating the collaboration of the users during the process.

Las cadenas intertextuales inglés-español: traducciones y otras transferencias (inter)semióticas

Eterio Pajares, Raquel Merino y José Miguel Santamaría (eds.)

Inter- and intramolecular enantioselective carbolithiation reactions

In this review we summarize recent developments in inter- and intramolecular enantioselective carbolithiation reactions carried out in the presence of a chiral ligand for lithium, such as (-)-sparteine, to promote facial selection on a C=C bond. This is an attractive approach for the construction of new carbon-carbon bonds in an asymmetric fashion, with the possibility of introducing further functionalization on the molecule by trapping the reactive organolithium intermediates with electrophiles.

Calpain-Mediated Processing of Adenylate Cyclase Toxin Generates a Cytosolic Soluble Catalytically Active N-Terminal Domain

Bordetella pertussis, the whooping cough pathogen, secretes several virulence factors among which adenylate cyclase toxin (ACT) is essential for establishment of the disease in the respiratory tract. ACT weakens host defenses by suppressing important bactericidal activities of the phagocytic cells. Up to now, it was believed that cell intoxication by ACT was a consequence of the accumulation of abnormally high levels of cAMP, generated exclusively beneath the host plasma membrane by the toxin N-terminal catalytic adenylate cyclase (AC) domain, upon its direct translocation across the lipid bilayer. Here we show that host calpain, a calcium-dependent Cys-protease, is activated into the phagocytes by a toxin-triggered calcium rise, resulting in the proteolytic cleavage of the toxin N-terminal domain that releases a catalytically active "soluble AC''. The calpain-mediated ACT processing allows trafficking of the "soluble AC'' domain into subcellular organella. At least two strategic advantages arise from this singular toxin cleavage, enhancing the specificity of action, and simultaneously preventing an indiscriminate activation of cAMP effectors throughout the cell. The present study provides novel insights into the toxin mechanism of action, as the calpain-mediated toxin processing would confer ACT the capacity for a space- and time-coordinated production of different cAMP "pools'', which would play different roles in the cell pathophysiology.

The cross layer RMPA handover: a reliable mobility pattern aware handover strategy for broadband wireless communication in a high-speed railway domain

Enhancing the handover process in broadband wireless communication deployment has traditionally motivated many research initiatives. In a high-speed railway domain, the challenge is even greater. Owing to the long distances covered, the mobile node gets involved in a compulsory sequence of handover processes. Consequently, poor performance during the execution of these handover processes significantly degrades the global end-to-end performance. This article proposes a new handover strategy for the railway domain: the RMPA handover, a Reliable Mobility Pattern Aware IEEE 802.16 handover strategy "customized" for a high-speed mobility scenario. The stringent high mobility feature is balanced with three other positive features in a high-speed context: mobility pattern awareness, different sources for location discovery techniques, and a previously known traffic data profile. To the best of the authors' knowledge, there is no IEEE 802.16 handover scheme that simultaneously covers the optimization of the handover process itself and the efficient timing of the handover process. Our strategy covers both areas of research while providing a cost-effective and standards-based solution. To schedule the handover process efficiently, the RMPA strategy makes use of a context aware handover policy; that is, a handover policy based on the mobile node mobility pattern, the time required to perform the handover, the neighboring network conditions, the data traffic profile, the received power signal, and current location and speed information of the train. Our proposal merges all these variables in a cross layer interaction in the handover policy engine. It also enhances the handover process itself by establishing the values for the set of handover configuration parameters and mechanisms of the handover process. RMPA is a cost-effective strategy because compatibility with standards-based equipment is guaranteed. The major contributions of the RMPA handover are in areas that have been left open to the handover designer's discretion. Our simulation analysis validates the RMPA handover decision rules and design choices. Our results supporting a high-demand video application in the uplink stream show a significant improvement in the end-to-end quality of service parameters, including end-to-end delay (22%) and jitter (80%), when compared with a policy based on signal-to-noise-ratio information.

Domain walls collision in Fe-rich and Co-rich glass covered microwires

JEMS 2012 - Joint European Magnetic Symposia edited by Tiberto, P; Affronte, M; Casoli, F; Fernandez, CD; Gubbiotti, G; Marquina, C; Pratt, F; Solzi, M; Tacchi, S; Vavassori, P. 6th Joint European Magnetic Symposia (JEMS) Parma, ITALY SEP 09-14, 2012

Manipulation of domain wall dynamics in amorphous microwires through the magnetoelastic anisotropy

We studied the effect of magnetoelastic anisotropy on domain wall (DW) dynamics and remagnetization process of magnetically bistable Fe-Co-rich microwires with metallic nucleus diameters (from 1.4 to 22 mu m). We manipulated the magnetoelastic anisotropy applying the tensile stresses and changing the magnetostriction constant and strength of the internal stresses. Microwires of the same composition of metallic nucleus but with different geometries exhibit different magnetic field dependence of DW velocity with different slopes. Application of stresses resulted in decrease of the DW velocity, v, and DW mobility, S. Quite fast DW propagation (v until 2,500 m/s at H about 30 A/m) has been observed in low magnetostrictive magnetically bistable Co56Fe8Ni10Si10B16 microwires. Consequently, we observed certain correlation between the magnetoelastic energy and DW dynamics in microwires: decreasing the magnetoelastic energy, K (me), DW velocity increases.

Domain wall dynamics of magnetically bistable microwires

EMM-FM2011 – First Euro Mediterranean Meeting on Functionalized Materials, edited by Cheikhrouhou, A. 1st Euro Mediterranean Meeting on Functionalized Materials (EMM-FM). Sousse, TUNISIA . Sep. 06-10, 2011

Towards complex system design and management in the engineering domain – the smart grid challenge

This is an Author's Accepted Manuscript of an article published in “Emergence: Complexity and Organization”, 15 (2), pp. 14-22 (2013), copyright Taylor & Francis.