Genetic studies of the Roma (Gypsies): a review

Background: Data provided by the social sciences as well as genetic research suggest that the 8-10 million Roma (Gypsies) who live in Europe today are best described as a conglomerate of genetically isolated founder populations. The relationship between the traditional social structure observed by the Roma, where the Group is the primary unit, and the boundaries, demographic history and biological relatedness of the diverse founder populations appears complex and has not been addressed by population genetic studies. Results: Recent medical genetic research has identified a number of novel, or previously known but rare conditions, caused by private founder mutations. A summary of the findings, provided in this review, should assist diagnosis and counselling in affected families, and promote future collaborative research. The available incomplete epidemiological data suggest a non-random distribution of disease-causing mutations among Romani groups.Conclusion: Although far from systematic, the published information indicates that medical genetics has an important role to play in improving the health of this underprivileged and forgotten people of Europe. Reported carrier rates for some Mendelian disorders are in the range of 5 -15%, sufficient to justify newborn screening and early treatment, or community-based education and carrier testing programs for disorders where no therapy is currently available. To be most productive, future studies of the epidemiology of single gene disorders should take social organisation and cultural anthropology into consideration, thus allowing the targeting of public health programs and contributing to the understanding of population structure and demographic history of the Roma.

Prediction of enzyme function by combining sequence similarity and protein interactions

Background: A number of studies have used protein interaction data alone for protein function prediction. Here, we introduce a computational approach for annotation of enzymes, based on the observation that similar protein sequences are more likely to perform the same function if they share similar interacting partners. Results: The method has been tested against the PSI-BLAST program using a set of 3,890 protein sequences from which interaction data was available. For protein sequences that align with at least 40% sequence identity to a known enzyme, the specificity of our method in predicting the first three EC digits increased from 80% to 90% at 80% coverage when compared to PSI-BLAST. Conclusion: Our method can also be used in proteins for which homologous sequences with known interacting partners can be detected. Thus, our method could increase 10% the specificity of genome-wide enzyme predictions based on sequence matching by PSI-BLAST alone.

Discovering the campus together: a mobile and computer-based learning experience

One of the most relevant difficulties faced by first-year undergraduate students is to settle into the educational environment of universities. This paper presents a case study that proposes a computer-assisted collaborative experience designed to help students in their transition from high school to university. This is done by facilitating their first contact with the campus and its services, the university community, methodologies and activities. The experience combines individual and collaborative activities, conducted in and out of the classroom, structured following the Jigsaw Collaborative Learning Flow Pattern. A specific environment including portable technologies with network and computer applications has been developed to support and facilitate the orchestration of a flow of learning activities into a single integrated learning setting. The result is a Computer-Supported Collaborative Blended Learning scenario, which has been evaluated with first-year university students of the degrees of Software and Audiovisual Engineering within the subject Introduction to Information and Communications Technologies. The findings reveal that the scenario improves significantly students’ interest in their studies and their understanding about the campus and services provided. The environment is also an innovative approach to successfully support the heterogeneous activities conducted by both teachers and students during the scenario. This paper introduces the goals and context of the case study, describes how the technology was employed to conduct the learning scenario, the evaluation methods and the main results of the experience.

Recursos sobre protección de los derechos de la mujer en Internet

Con el objetivo de contribuir a salvaguardar los derechos fundamentales de las mujeres, hemos realizado este trabajo en el que intentamos recoger de la manera más exhaustiva que permita un medio tan voluble y cambiantecomo internet, los recursos existentes en la red sobre la Protección de los Derechos de la Mujer, y de esta manera facilitar el acceso a los mismos. La intención que ha guiado desde un principio a la elaboración de estaobra ha sido proporcionar un recurso de información práctica a aquellos profesionalesque desarrollan tareas relacionadas con la protección de los derechos de la mujer, así como a cualquier otra persona interesada o que necesite estar informada sobre esta temática. Así pues, el objetivo que nos hemos marcado no ha sido otro que el dedesarrollar una guía que permita a sus usuarios/as encontrar en internet aquellas direcciones sobre Derechos de la Mujer que facilitan un contenido sustancial e interesante.

Girona, capital jurisdiccional de la Catalunya convulsa dels anys 1630

El treball té per marc precís els anys 1635-37. El seu objecteés la transferència de Barcelona a Girona de la plana major deles institucions virregnals de Catalunya (la Reial Audiència, laBatllia General, l’ofici del mestre racional...) i el seu personal.

Antiretroviral activity of ancestral TRIM5alpha.

The antiretroviral protein TRIM5alpha is known to have evolved different restriction capacities against various retroviruses, driven by positive Darwinian selection. However, how these different specificities have evolved in the primate lineages is not fully understood. Here we used ancestral protein resurrection to estimate the evolution of antiviral restriction specificities of TRIM5alpha on the primate lineage leading to humans. We used TRIM5alpha coding sequences from 24 primates for the reconstruction of ancestral TRIM5alpha sequences using maximum-likelihood and Bayesian approaches. Ancestral sequences were transduced into HeLa and CRFK cells. Stable cell lines were generated and used to test restriction of a panel of extant retroviruses (human immunodeficiency virus type 1 [HIV-1] and HIV-2, simian immunodeficiency virus [SIV] variants SIV(mac) and SIV(agm), and murine leukemia virus [MLV] variants N-MLV and B-MLV). The resurrected TRIM5alpha variant from the common ancestor of Old World primates (Old World monkeys and apes, approximately 25 million years before present) was effective against present day HIV-1. In contrast to the HIV-1 restriction pattern, we show that the restriction efficacy against other retroviruses, such as a murine oncoretrovirus (N-MLV), is higher for more recent resurrected hominoid variants. Ancestral TRIM5alpha variants have generally limited efficacy against HIV-2, SIV(agm), and SIV(mac). Our study sheds new light on the evolution of the intrinsic antiviral defense machinery and illustrates the utility of functional evolutionary reconstruction for characterizing recently emerged protein differences.

The role of the New Trauma and Injury Severity Score (NTRISS) for survival prediction

The objective of this study was to verify if replacing the Injury Severity Score (ISS) by the New Injury Severity Score (NISS) in the original Trauma and Injury Severity Score (TRISS) form would improve the survival rate estimation. This retrospective study was performed in a level I trauma center during one year. ROC curve was used to identify the best indicator (TRISS or NTRISS) for survival probability prediction. Participants were 533 victims, with a mean age of 38±16 years. There was predominance of motor vehicle accidents (61.9%). External injuries were more frequent (63.0%), followed by head/neck injuries (55.5%). Survival rate was 76.9%. There is predominance of ISS scores ranging from 9-15 (40.0%), and NISS scores ranging from 16-24 (25.5%). Survival probability equal to or greater than 75.0% was obtained for 83.4% of the victims according to TRISS, and for 78.4% according to NTRISS. The new version (NTRISS) is better than TRISS for survival prediction in trauma patients.

L'equilibri en la força

Aquesta unitat didàctica desenvolupada durant el Màster de Professorat de Secundària està pensada per ser impartida a l’assignatura Física i Química de 4t d’ESO, més concretament a la part de física, com introducció a la Dinàmica. Es parteix de les idees prèvies de l’alumnat sobre situacions quotidianes on hi actuen forces. Es contrasten aquestes amb una posada en comú i amb l’explicació del professor, que va introduint progressivament conceptes nous com l’equilibri o els vectors, a mesura que es fan necessaris. En les sessions posteriors s’insisteix en el caràcter vectorial de les forces i es centra l’atenció en dos casos particulars: la força de fregament i la força elàstica. Sobre aquestes dues es treballa resolent un cas i fent una experiència pràctica, fomentant la competència comunicativa. La finalitat de la metodologia és acabar construint les Lleis de Newton, les quals hauran d’exposar en una presentació al final de la unitat.

Los retos presentes y futuros de las agencias de medios en España

La revolución tecnológica en la que estamos inmersos está afectando a los consumidores, a las marcas y muy especialmente a los medios de comunicación, lo que obliga a las agencias de medios a reformular tanto susestructuras organizativas como los servicios que ofrecen a los anunciantes. En un momento además caracterizado por una grave crisis económica que hace que las inversiones publicitarias de hoy en día estén retrocediendo hasta niveles de hace cinco años atrás.En esta investigación realizaré un análisis retrospectivo de este tipo de agencias desde los años 70 hasta nuestros días, analizando los factores que han impulsado a que las agencias de medios estén cambiando, continuando de este modo con la línea de investigación abierta por el Dr. Francisco Javier Pérez-Latre de la Universidad de Navarra y autor de la tesis “Centrales deCompra de Medios”.

Resistance to nucleoside analog reverse transcriptase inhibitors mediated by human immunodeficiency virus type 1 p6 protein.

Resistance of human immunodeficiency virus type 1 (HIV-1) to antiretroviral agents results from target gene mutation within the pol gene, which encodes the viral protease, reverse transcriptase (RT), and integrase. We speculated that mutations in genes other that the drug target could lead to drug resistance. For this purpose, the p1-p6(gag)-p6(pol) region of HIV-1, placed immediately upstream of pol, was analyzed. This region has the potential to alter Pol through frameshift regulation (p1), through improved packaging of viral enzymes (p6(Gag)), or by changes in activation of the viral protease (p6(Pol)). Duplication of the proline-rich p6(Gag) PTAP motif, necessary for late viral cycle activities, was identified in plasma virus from 47 of 222 (21.2%) patients treated with nucleoside analog RT inhibitor (NRTI) antiretroviral therapy but was identified very rarely from drug-naïve individuals. Molecular clones carrying a 3-amino-acid duplication, APPAPP (transframe duplication SPTSPT in p6(Pol)), displayed a delay in protein maturation; however, they packaged a 34% excess of RT and exhibited a marked competitive growth advantage in the presence of NRTIs. This phenotype is reminiscent of the inoculum effect described in bacteriology, where a larger input, or a greater infectivity of an organism with a wild-type antimicrobial target, leads to escape from drug pressure and a higher MIC in vitro. Though the mechanism by which the PTAP region participates in viral maturation is not known, duplication of this proline-rich motif could improve assembly and packaging at membrane locations, resulting in the observed phenotype of increased infectivity and drug resistance.

Figures i mirades salvatges en el cinema de Werner Herzog

Aquest treball de recerca vol explorar com el concepte del salvatge europeu es plasmaen l'obra del cineasta alemany Werner Herzog. Aquesta plasmació es produeix tant anivell figuratiu i narratiu com a nivell estètic. Per una banda, en aquests films hi ha un treball del cos i de com aquest es sotmet a diverses regles socials i de representació, que el salvatge contestarà amb un rebuig de l'ordre establert, sovint concretat en la idea de fuga cap a la natura. Per altra banda, l'estètica dels films de Herzog respon al que denominem una mirada salvatge: la representació d'una societat teatral que s'enfonsa, per una banda, i l'ús de recursos formals per a reproduir una mirada primigènia sobre les imatges, per l'altra. En tots els casos, la dinàmica d'alliberament de les forces civilitzadores constitueix el fonament de la narració i l'estètica del cineasta alemany.

El ciclo del fantástico en M. Night Shyamalan

El objeto de esta investigación es detectar la idiosincrasia del fantástico en M. Night Shyamalan. Es decir, qué manifestaciones de modo y estilo ofrecen sus películas, y si existe un elemento que constituya la forma causal y determinadora de su ciclo del fantástico. Para ello se ha partido de unadoble perspectiva. La primera es un estudio de género. A partir de las constantes del fantástico literario y cinematográfico, destacadas por diversos autores, se llega a la modalización del discurso fantástico de Shyamalan. La segunda es un estudio estilístico. El Estilo Trascendental, definido por Paul Schrader, es la base, junto a otras clasificaciones análogas, para averiguar si el estilo del director encaja en las coordenadas de lo que sería el Fantástico Trascendental. Finalmente, elanálisis se completa con las características expresivas de Shyamalan que, integradas en lo anterior, conducen a la pausa como forma del Fantástico Trascendental de este director.

Visions postapocalíptiques: la ruïna i el cos en el cinema de Ciprì i Maresco

Aquest treball de recerca traça, mitjançant una metodologia transversal i comparativa, un recorregut per dos dels pilars fonamentals en la producció videocinematogràfica del duet de directors sicilians Daniele Ciprì i Franco Maresco: el cos i la ruïna. Considerada la seva obra com una visió radical del cinema i la televisió com a mitjà expressiu, al mateix temps que es treuen a la llum les principals motivacions que els han dut a seguir aquesta via al marge dels convencionalismes, s’aborden i analitzen alguns dels conceptes i motius visuals que es troben en ella: el cinisme, el sublim, el grotesc, el context postapocalíptic... Defugint tot propòsit d’establir una cronologia de fets, es destaquen i examinen posteriorment els aspectes més rellevants de la geografia dels espais que filmen i de l’anatomia dels personatges que els habiten, tot desglossant un seguit de subtemes per facilitar l’anàlisi i demostrar que la conjunció de cos i ruïna confecciona una atmosfera expressiva portada al límit de la representació

A las dos orillas del barco. Sobre la obra crítica y cinematográfica de Jacques Rivette

El presente trabajo analiza la relación entre crítica y obra cinematográfica enJacques Rivette en base a los postulados románticos recogidos por Walter Benjamin en su ensayo Le concepte de critique esthétique dans le romantisme allemand. Estudia algunas de las ideas y conceptos de su crítica: la noción de puesta en escena, la figura del autor, la responsabilidad moral y la singularidad de la obra fílmica. Analiza su obra cinematográfica, que se sitúa, insistentemente, entre dos esferas; el uso de los géneros como vehículo para reflexionar sobre el cine; y el estrecho vínculo que establece entre obra y crítica. Su cine resulta así un cine que se piensa a sí mismo.

Comparació de les dues traduccions al català de This Side of Paradise

En aquest treball es fa una anàlisi de This Side of Paradise, de Scott Fitzgerald, enfocada a avaluar les traduccions catalanes. A continuació, es comparen les dues traduccions existents: una de Francesc Parcerisas (Aquest costat del paradís, 1984) i l’altra de Josep Maria Fulquet (En aquest costat del paradís, 2003).