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.

Pulsed-field studies of the magnetization reversal in molecular nanomagnets

We report experimental studies of crystals of Mn12 molecular magnetic clusters in pulsed magnetic fields with sweep rates up to 410^3 T/s . The steps in the magnetization curve are observed at fields that are shifted with respect to the resonant field values. The shift systematically increases as the rate of the field sweep goes up. These data are consistent with the theory of the collective dipolar relaxation in molecular magnets.

Solid-phase synthesis and NMR studies of modified oligonucleotides forming triplex helix and of oligonucleopeptides mimicking the topoisomerase I-DNA covalent complex

Report for the scientific sojourn carried out at the Institut de Biologia Molecular de Barcelona of the CSIC –state agency – from april until september 2007. Topoisomerase I is an essential nuclear enzyme that modulates the topological status of DNA, facilitating DNA helix unwinding during replication and transcription. We have prepared the oligonucleotide-peptide conjugate Ac-NLeu-Asn-Tyr(p-3’TTCAGAAGC5’)-LeuC-CONH-(CH2)6-OH as model compound for NMR studies of the Topoisomerase I- DNA complex. Special attention was made on the synthetic aspects for the preparation of this challenging compound especially solid supports and protecting groups. The desired peptide was obtained although we did not achieve the amount of the conjugate needed for NMR studies. Most probably the low yield is due to the intrinsic sensitive to hydrolysis of the phosphate bond between oligonucleotide and tyrosine. We have started the synthesis and the structural characterization of oligonucleotides carrying intercalating compounds. At the present state we have obtained model duplex and quadruplex sequences modified with acridine and NMR studies are underway. In addition to this project we have successfully resolved the structure of a fusion peptide derived from hepatitis C virus envelope synthesized by the group of Dr. Haro and we have synthesized and started the characterization of a modified G-quadruplex.

Systematics of properties of the electron gas in deep-etched quantum wires

An efficient method is developed for an iterative solution of the Poisson and Schro¿dinger equations, which allows systematic studies of the properties of the electron gas in linear deep-etched quantum wires. A much simpler two-dimensional (2D) approximation is developed that accurately reproduces the results of the 3D calculations. A 2D Thomas-Fermi approximation is then derived, and shown to give a good account of average properties. Further, we prove that an analytic form due to Shikin et al. is a good approximation to the electron density given by the self-consistent methods.

Growth and melting of the nematic phase: sample thickness dependence of the Mullins-Sekerka instability

In this article we report our systematic studies of the dependence on the sample thickness of the onset parameters of the instability of the nematic-isotropic interface during directional growth and melting, in homeotropic or planar anchoring.

Microvariation in the languages of the Iberian Peninsula

This issue of the Catalan Journal of Linguistics was conceived with the idea to promote comparative studies of the languages spoken in the Iberian Peninsula. The importance of comparison in linguistics dates back to neogrammarians in the xix century due to their interest of discovering the common roots of most of the languages spoken in Europe. In order to get to that objective, comparison of phonological patterns were crucial to retrieve the common Indo-European origins

Human capital in export-based internationalisation. "Managerial determinants and their influence upon the export behaviour of the firm: four case-studies of catalan exporting SMEs"

Export activities are a major source of economic growth and are considered important both at the national level and for individual businesses. Moreover, in the case of SMEs, they gain particular relevance, exporting being the most common foreign market entry mode for these firms. The decision maker’s role in the export activity is crucial, particularly in the case of SMEs. However, the extant literature on internationalization is characterized by a lack of consensus among scholars as to what constitutes the managerial factor in determining exporting. Therefore, this study focuses on the following issue: Which are the decision maker’s characteristics and perceptions that may influence the export behaviour of Catalan SMEs? To address this question a multiple case study method is applied across four Catalan exporting SMEs. The methodology chosen for analysing the empirical data is relying on the proposition testing approach while the investigation is conducted including both within and cross-case analysis. The findings show that high educational level, language skills, high risk tolerance, innovativeness as well as strongly perceived export stimuli as compared to low and easy to overcome export barriers positively influence the export involvement and development of SMEs. The study provides further insights into the research topic by jointly studying managerial characteristics and perceptions. Additionally, the majority of research on exporting topics has been carried out in the USA, so there is a clear need of investigation in the field in other countries, moreover in Spain where the exporting activities have not been as widely studied.

Recerca versus docència en una experiència d'internalització dels estudis de Geografia a la Universitat de Girona: The faces of landscape, Catalonia and North Karelia = Research versus teaching in one experience of internationalization of the Geography degree studies in the University of Girona: The faces of landscape, Catalonia and North Karelia

Un dels reptes cabdals de la Universitat és enllaçar l’experiència de recerca amb la docència, així com promoure la internacionalització dels estudis, especialment a escala europea, tenint present que ambdues poden actuar com a catalitzadores de la millora de la qualitat docent. Una de les fórmules d’internacionalització és la realització d’assignatures compartides entre universitats de diferents països, fet que suposa l’oportunitat d’implementar noves metodologies docents. En aquesta comunicació es presenta una experiència en aquesta línia desenvolupada entre la Universitat de Girona i la Universitat de Joensuu (Finlàndia) en el marc dels estudis de Geografia amb la realització de l’assignatura 'The faces of landscape: Catalonia and North Karelia'. Aquesta es desenvolupa al llarg de dues setmanes intensives, una en cadascuna de les Universitats. L’objectiu és presentar i analitzar diferents significats del concepte paisatge aportant també metodologies d’estudi tant dels aspectes físics i ecològics com culturals que s’hi poden vincular i que són les que empren els grups de recerca dels professors responsables de l’assignatura. Aquesta part teòrica es completa amb una presentació de les característiques i dinàmiques pròpies dels paisatges finlandesos i catalans i una sortida de camp. Per a la part pràctica es constitueixen grups d’estudi multinacionals que treballen a escala local algun dels aspectes en els dos països, es comparen i es realitza una presentació i defensa davant del conjunt d’estudiants i professorat. La llengua vehicular de l’assignatura és l’anglès.

The first steps of a secondary school teacher: experiences and studies of a student-teacher

This dissertation aims at fostering the professional development of the EFL teacher. This document compiles two small scale empirical studies carried out during the practicum periods of the TED's course. The first one is based on the role of the teacher's talk in the EFL classroom and the second one focuses on students’ small group talk, analysing the impact of cooperative learning in the EFL classroom by examining students' conversation. The following section gathers the teacher's personal reflections upon the process of professionalization. The paper concludes with a summary of the major findings and further professional improvement proposals

Comparison studies of tin deposits (Priamurye, Russia) using the Aitchison’s methodology

A study of tin deposits from Priamurye (Russia) is performed to analyze the differencesbetween them based on their origin and also on commercial criteria. A particularanalysis based on their vertical zonality is also given for samples from Solnechnoedeposit. All the statistical analysis are made on the subcomposition formed by seventrace elements in cassiterite (In, Sc, Be, W, Nb, Ti and V) using the Aitchison’methodology of analysis of compositional data

Summarization of specialized discourse: the case of medical articles in Spanish

In this article, we present the current state of our work on a linguistically-motivated model for automatic summarization of medical articles in Spanish. The model takes into account the results of an empirical study which reveals that, on the one hand, domain-specific summarization criteria can often be derived from the summaries of domain specialists, and, on the other hand, adequate summarization strategies must be multidimensional, i.e., cover various types of linguistic clues. We take into account the textual, lexical, discursive, syntactic and communicative dimensions. This is novel in the field of summarization. The experiments carried out so far indicate that our model is suitable to provide high quality summarizations.

The role of the Teaching Quality and Innovation Support Unit in the ICT Engineering Studies at Universitat Pompeu Fabra

One of the strategies of Universitat Pompeu Fabra to support Quality Learning has been the creation of Units for the Support of Teaching Quality and Innovation within each faculty. In the seminar we will present the role and activities of the Polytechnic School Unit in charge or coordinating the efforts towards quality learning in the Information and Communication Technologies (ICT) Engineering Studies. We will also discuss how these activities are informed to relevant academic stakeholders.

Outcomes from studies of Antineutrophil Cytoplasm Antibody Associated Vasculitis: a systematic review by the European League Against Rheumatism systemic vasculitis task force.

Objectives: We undertook a systematic literature review as a background to the European League Against Rheumatism (EULAR) recommendations for conducting clinical trials in anti-neutrophil cytoplasm antibody associated vasculitis (AAV), and to assess the quality of evidence for outcome measures in AAV. Methods: Using a systematic Medline search, we categorised the identified studies according to diagnoses. Factors affecting remission, relapse, renal function and overall survival were identified. Results: A total of 44 papers were reviewed from 502 identified by our search criteria. There was considerable inconsistency in definitions of end points. Remission rates varied from 30% to 93% in Wegener granulomatosis (WG), 75% to 89% in microscopic polyangiitis (MPA) and 81% to 91% in Churg¿Strauss syndrome (CSS). The 5-year survival for WG, MPA and CSS was 74¿91%, 45¿76% and 60¿97%. Relapse (variably defined) was common in the first 2 years but the frequency varied: 18% to 60% in WG, 8% in MPA, and 35% in CSS. The rate of renal survival in WG varied from 23% at 15 months to 23% at 120 months. Methods used to assess morbidity varied between studies. Ignoring the variations in definitions of the stage of disease, factors influencing remission, relapse, renal and overall survival included immunosuppressive therapy used, type of organ involvement, presence of ANCA, older age and male ender. Conclusions: Factors influencing remission, relapse, renal and overall survival include the type of immunosuppressive therapy used, pattern of organ involvement, presence of ANCA, older age and male gender. Methodological variations between studies highlight the need for a consensus on terminology and definitions for future conduct of clinical studies in AAV.

Phytolith and spherulite studies of herbivores dung from the African Savannah as a tool for palaeocological reconstruction.

Los restos fecales están compuestos mayoritariamente por materia orgánica, la cual se degrada con el tiempo despareciendo finalmente del registro arqueológico. Sin embargo, estos restos fecales también contienen ciertos elementos resistentes al paso del tiempo y a los efectos postdeposicionales. Las esferulitas son cristales de carbonato cálcico formadas en los intestinos de ciertos animales herbívoros, principalmente rumiantes y que posteriormente son depositados en los restos fecales. Los fitolitos de sílice, aunque se forman en las plantas, son también comúnmente identificados en los restos fecales de animales herbívoros. Su número y morfología dependerá de la dieta vegetal de estos animales. El estudio que aquí se presenta se centra en el análisis microscópico de ambos elementos, fitolitos y esferulitas, identificados en restos fecales, de varios animales herbívoros, recolectados durante la estación seca en la Garganta de Olduvai en Tanzania. Los fitolitos y las esferulitas fueron identificados y analizados siguiendo un método morfológico y cuantitativo. Los fitolitos fueron luego comparados con una colección de referencia de plantas modernas de la misma zona geográfica con el propósito de estudiar la dieta de cada uno de los animales analizados. Finalmente los resultados fueron relacionados con los obtenidos del estudio de esferulitas, con el propósito de analizar la relación entre morfología y número de fitolitos y morfología y número de esferulitas para cada uno de los restos fecales analizados. El objetivo de este trabajo consiste en evaluar la utilidad de combinar ambas técnicas para identificar restos fecales en el registro arqueológico y, consecuentemente, responder a cuestiones relacionadas con el animal productor de estos restos, su dieta y movimientos migratorios y, paralelamente, la paleovegetación y el paleopaisaje en una región determinada.

Model studies on the synthesis of madangamine alkaloids. Assembly of the macrocyclic rings

Using simplified model derivatives, the assembly of the macrocyclic rings of madangamines, including the 13- and 14-membered D rings of madangamines C-E, the all-cis-triunsaturated 15-membered D ring of madangamine A, and the (Z,Z)-unsaturated 11-membered E ring common to madangamines A-E, has been studied.