Polymorphisms in DNA-repair genes in a cohort of prostate cancer patients from different areas in Spain: heterogeneity between populations as a confounding factor in association studies

Background: Differences in the distribution of genotypes between individuals of the same ethnicity are an important confounder factor commonly undervalued in typical association studies conducted in radiogenomics. Objective: To evaluate the genotypic distribution of SNPs in a wide set of Spanish prostate cancer patients for determine the homogeneity of the population and to disclose potential bias. Design, Setting, and Participants: A total of 601 prostate cancer patients from Andalusia, Basque Country, Canary and Catalonia were genotyped for 10 SNPs located in 6 different genes associated to DNA repair: XRCC1 (rs25487, rs25489, rs1799782), ERCC2 (rs13181), ERCC1 (rs11615), LIG4 (rs1805388, rs1805386), ATM (rs17503908, rs1800057) and P53 (rs1042522). The SNP genotyping was made in a Biotrove OpenArrayH NT Cycler. Outcome Measurements and Statistical Analysis: Comparisons of genotypic and allelic frequencies among populations, as well as haplotype analyses were determined using the web-based environment SNPator. Principal component analysis was made using the SnpMatrix and XSnpMatrix classes and methods implemented as an R package. Non-supervised hierarchical cluster of SNP was made using MultiExperiment Viewer. Results and Limitations: We observed that genotype distribution of 4 out 10 SNPs was statistically different among the studied populations, showing the greatest differences between Andalusia and Catalonia. These observations were confirmed in cluster analysis, principal component analysis and in the differential distribution of haplotypes among the populations. Because tumor characteristics have not been taken into account, it is possible that some polymorphisms may influence tumor characteristics in the same way that it may pose a risk factor for other disease characteristics. Conclusion: Differences in distribution of genotypes within different populations of the same ethnicity could be an important confounding factor responsible for the lack of validation of SNPs associated with radiation-induced toxicity, especially when extensive meta-analysis with subjects from different countries are carried out.

Satutyyppiluettelo elää ja on voimissaan

Kirja-arvio

Des cheminements sur la voie royale : une analyse sociologique des parcours de vie des normaliens-ne-s de Saint-Cloud, Fontenay-aux-Roses et Lyon (1981-1987)

Cette thèse est consacrée à l'analyse des parcours de vie d'un groupe d'anciens et anciennes élèves d'un établissement scolaire d'élite français (les Ecoles normales supérieures de Fontenay-aux-roses, Saint-Cloud et Lyon - promotions 1981-1987). A partir d'une approche longitudinale, son but est de montrer comment l'articulation entre la socialisation familiale, scolaire, professionnelle et conjugale participe à l'orientation progressive des parcours de vie des normalien-ne-s. Elle vise ainsi à remettre en question l'idée, largement répandue, selon laquelle l'intégration d'un cursus scolaire aussi sélectif et prestigieux que celui des ENS garantirait à Lou.te.s les élèves les mêmes chances d'accès aux positions dominantes de l'espace social. Alliant l'analyse de trois types de données (archives, questionnaires, entretiens), cette thèse met en évidence la manière dont inégalités relatives à l'origine sociale et au sexe se recomposent, une fois les portes de l'institution franchies. Elle montre que, dans un contexte socio-historique marqué par une forte expansion scolaire, il est plus que jamais nécessaire d'opérer une articulation systématique entre l'analyse des conditions sociales de réussite scolaire et l'analyse des conditions sociales d'exploitation des titres scolaires, afin de rendre compte des processus complexes de reproduction des inégalités et d'esquisser certaines de leur conditions de dépassement. Abstract: This thesis is dedicated to the life course analysis of alumni from one of the most prestigious French Grandes écoles (the Ecoles Normales Supérieures of Fontenay-aux- roses, Saint-Cloud and Lyon - classes of 1981.-1987). Through a longitudinal perspective, it aims to analyze how family, educational, professional and conjugal socialization processes combine to shape the life course of this particular group of graduates. The main goal of this research is to question the widespread belief that the French Grandes Ecoles guarantee automatic access to the very top of the professional and social hierarchy for all of their graduates. Based on a mixed methods research design (archive data, a questionnaire survey and semi-structured interviews), this thesis shows that, according to social origin and gender, ENS graduates actually adopt a diverse range of professional careers. It show how, in a socio-historical context characterized by a general increase in educational levels, any analysis of social inequalities should combine two levels of analysis: the social conditions of access to educational credentials, on the one hand, and the labor market value of formal qualifications, on the other hand. Our results suggest that the combined analysis of these two processes provide useful insight into the increasingly complex processes of social reproduction - and suggest fruitful perspectives for reducing some sources of inequality.

Kidney-sparing surgery for upper tract urothelial cancer.

PURPOSE OF REVIEW: This article reviews and summarizes current knowledge on kidney-sparing surgery (KSS) for upper tract urothelial carcinoma (UTUC). RECENT FINDINGS: Radical nephroureterectomy (RNU) has been central to the treatment of UTUC for decades, but KSS has been applied to a rising number of patients to preserve renal function. Ablation or resection through flexible ureteroscopy or the percutaneous route seems to provide comparable cancer-specific survival and overall survival to RNU, but the risk of local and bladder recurrence remains relatively high. Segmental ureterectomy is used for low-risk unifocal UTUC with recent studies confirming its oncologic safety and equivalence to RNU. Antegrade or retrograde instillation therapy may be considered as adjuvant treatment after conservative surgery, but their efficacy needs to be proven. Intravesical single-dose chemotherapy is likely to become part of the therapy algorithm of UTUC treated by KSS or RNU to lower bladder seeding and recurrence. Postoperative vigilant radiographic and endoscopic surveillance are obligatory because of the high probability of recurrence. SUMMARY: KSS should be regarded as a valid alternative to RNU in case of technically resectable low-risk upper tract urothelial cell carcinoma, even in case of a normal contralateral kidney. Advances in technology and biological and clinical risk estimation will make the management of UTUC more evidence based thereby lowering overtreatment.

Development of a harmonised method for the profiling of amphetamine

Résumé : Cette thèse de doctorat est le fruit d'un projet de recherche européen financé par le quatrième programme cadre de la Commission Européenne (DG XII, Standards, Measurement and Testing). Ce projet, dénommé SMT-CT98-2277, a été financé pour la partie suisse par l'Office Fédéral de l'Education et de la Science (OFES, Berne, Suisse). Le but de ce projet était de développer une méthode harmonisée et collaborativement testée pour le profilage des impuretés de l'amphétamine illicite par chromatographie capillaire en phase gazeuse. Le travail a été divisé en sept phases majeures qui concernaient la synthèse de l'amphétamine, l'identification d'impuretés, l'optimisation de la préparation de l'échantillon et du système chromatographique, la variabilité des résultats, l'investigation de méthodes mathématiques pour la classification et la comparaison de profils et finalement l'application de la méthode à des réels échantillons illicites. La méthode résultant de ce travail n'a pas seulement montré que les données étaient interchangeables entre laboratoires mais aussi qu'elle était supérieure en de nombreux points aux méthodes préalablement publiées dans la littérature scientifique. Abstract : This Ph.D. thesis was carried out in parallel to an European project funded by the fourth framework program of the European Commission (DG XII, Standards, Measurement and Testing). This project, named SMT-CT98-2277 was funded, for the Swiss part, by the Federal Office of Education and Science (OFES, Bern, Switzerland). The aim of the project was to develop a harmonised, collaboratively tested method for the impurity profiling of illicit amphetamine by capillary gas chromatography. The work was divided into seven main tasks which deal with the synthesis of amphetamine, identification of impurities, optimization of sample preparation and of the chromatographic system, variability of the results, investigation of numerical methods for the classification and comparison of profiles and finally application of the methodology to real illicit samples. The resulting method has not only shown to produce interchangeable data between different laboratories but was also found to be superior in many aspects to previously published methods.

Evolution based on domain combinations: the case of glutaredoxins

Background: Protein domains represent the basic units in the evolution of proteins. Domain duplication and shuffling by recombination and fusion, followed by divergence are the most common mechanisms in this process. Such domain fusion and recombination events are predicted to occur only once for a given multidomain architecture. However, other scenarios may be relevant in the evolution of specific proteins, such as convergent evolution of multidomain architectures. With this in mind, we study glutaredoxin (GRX) domains, because these domains of approximately one hundred amino acids are widespread in archaea, bacteria and eukaryotes and participate in fusion proteins. GRXs are responsible for the reduction of protein disulfides or glutathione-protein mixed disulfides and are involved in cellular redox regulation, although their specific roles and targets are often unclear. Results: In this work we analyze the distribution and evolution of GRX proteins in archaea,bacteria and eukaryotes. We study over one thousand GRX proteins, each containing at least one GRX domain, from hundreds of different organisms and trace the origin and evolution of the GRX domain within the tree of life. Conclusion: Our results suggest that single domain GRX proteins of the CGFS and CPYC classes have, each, evolved through duplication and divergence from one initial gene that was present in the last common ancestor of all organisms. Remarkably, we identify a case of convergent evolution in domain architecture that involves the GRX domain. Two independent recombination events of a TRX domain to a GRX domain are likely to have occurred, which is an exception to the dominant mechanism of domain architecture evolution.

Semantic data integration in a newspaper content management system

A newspaper content management system has to deal with a very heterogeneous information space as the experience in the Diari Segre newspaper has shown us. The greatest problem is to harmonise the different ways the involved users (journalist, archivists...) structure the newspaper information space, i.e. news, topics, headlines, etc. Our approach is based on ontology and differentiated universes of discourse (UoD). Users interact with the system and, from this interaction, integration rules are derived. These rules are based on Description Logic ontological relations for subsumption and equivalence. They relate the different UoD and produce a shared conceptualisation of the newspaper information domain.

Caracterización selvícola de las masas monoespecíficas de pino laricio en Cataluña

En el presente trabajo se ha abordado, a partir de la información suministrada por el Segundo Inventario Forestal Nacional, la caracterización de las masas monoespecíficas de pino laricio en Cataluña (NE de España), formalizándola en una tipología de enfoque silvogenético. Basándose en los resultados obtenidos del análisis factorial realizado sobre variables dasométricas, los categoremas de la tipología se articularon sobre aspectos concernientes a la distribución diamétrica y espesura del rodal, identificándose nueve tipos. El carácter irregularizado, presente en cinco de ellos aunque con rasgos diferentes, se examinó a través de la distribución de Weibull truncada. La tipología, que se maneja computando tan sólo el nivel de regenerado y los diámetros de los pies inventariables, contempla los distintos estadios evolutivos y permite diagnosticar situaciones comprometidas en cuanto a la persistencia de la masa, bien causadas por deficientes estados de espesura o por falta de regenerado.

Definition of linear color models in the RGB vector color space to detect red peaches in orchard images taken under natural illumination

This work proposes the detection of red peaches in orchard images based on the definition of different linear color models in the RGB vector color space. The classification and segmentation of the pixels of the image is then performed by comparing the color distance from each pixel to the different previously defined linear color models. The methodology proposed has been tested with images obtained in a real orchard under natural light. The peach variety in the orchard was the paraguayo (Prunus persica var. platycarpa) peach with red skin. The segmentation results showed that the area of the red peaches in the images was detected with an average error of 11.6%; 19.7% in the case of bright illumination; 8.2% in the case of low illumination; 8.6% for occlusion up to 33%; 12.2% in the case of occlusion between 34 and 66%; and 23% for occlusion above 66%. Finally, a methodology was proposed to estimate the diameter of the fruits based on an ellipsoidal fitting. A first diameter was obtained by using all the contour pixels and a second diameter was obtained by rejecting some pixels of the contour. This approach enables a rough estimate of the fruit occlusion percentage range by comparing the two diameter estimates.

Particularités du variant logopénique au sein des aphasies progressives primaires [Specificities of the logopenic variant of primary progressive aphasia].

The logopenic variant of primary progressive aphasia is a syndrome with neuropsychological and linguistic specificities, including phonological loop impairment for which diagnosis is currently mainly based on the exclusion of the two other variants, semantic and nonfluent/agrammatic primary progressive aphasia. The syndrome may be underdiagnosed due (1) to mild language difficulties during the early stages of the disease or (2) to being mistaken for mild cognitive impairment or Alzheimer's disease when the evaluation of episodic memory is based on verbal material and (3) finally, it is not uncommon that the disorders are attributed to psychiatric co-morbidities such as, for example, anxiety. Moreover, compared to other variants of primary progressive aphasia, brain abnormalities are different. The left temporoparietal junction is initially affected. Neuropathology and biomarkers (cerebrospinal fluid, molecular amyloid nuclear imaging) frequently reveal Alzheimer's disease. Consequently this variant of primary progressive aphasia does not fall under the traditional concept of frontotemporal lobar degeneration. These distinctive features highlight the utility of correct diagnosis, classification, and use of biomarkers to show the neuropathological processes underlying logopenic primary progressive aphasia. The logopenic variant of primary progressive aphasia is a specific form of Alzheimer's disease frequently presenting a rapid decline; specific linguistic therapies are needed. Further investigation of this syndrome is needed to refine screening, improve diagnostic criteria and better understand the epidemiology and the biological mechanisms involved.

La educación para la salud como objeto de estudio histórico : proyecto de investigación

Objetivo: El objetivo es presentar el proyecto de investigación cuyo propósito es conocer la evolución de la Educación para la salud (EpS) desde la antigüedad hasta la época contemporánea, con el fin de identificar y comprender la génesis y construcción de la disciplina. Método: Se trata de un estudio cualitativo histórico enmarcado en el paradigma interpretativo etnohistórico y hermenéutico. Los pilares básicos en que se enmarca conceptualmente, son la Educación, la Persona, grupo o comunidad y la Salud. El espacio social, es aquel en que los grupos sociales vivían y el estructural-temporal, las épocas históricas: prehistoria, antigüedad (culturas antiguas y clásicas), edad media, renacimiento y contemporánea hasta pasada la Guerra Civil española (1940). El sujeto de estudio es la EpS a partir de los elementos que la conforman: el concepto de salud, las creencias, los conocimientos sanitarios, las intervenciones y los recursos educativos para la salud de les personas y los grupos sociales en cada una de las épocas históricas a estudio. Las fuentes utilizadas son las indirectas, materiales-arqueológicas y culturales: verbales (escritas) y no verbales (semiológicas/audiovisuales) y las no seriadas. La recogida de información a través de técnicas de investigación histórica cualitativa: la observación y análisis documental bibliográfico, iconográfico de archivos, prensa, publicaciones oficiales, textos bibliográficos y técnicas textuales-filosóficas: análisis de contenido y crítica histórica. El análisis de la información será cronológico y mediante una clasificación por temáticas y periodos históricos.

A Be-type star with a black-hole companion

Stellar-mass black holes have all been discovered through X-ray emission, which arises from the accretion of gas from their binary companions (this gas is either stripped from low-mass stars or supplied as winds from massive ones). Binary evolution models also predict the existence of black holes accreting from the equatorial envelope of rapidly spinning Be-type stars (stars of the Be type are hot blue irregular variables showing characteristic spectral emission lines of hydrogen). Of the ~80 Be X-ray binaries known in the Galaxy, however, only pulsating neutron stars have been found as companions. A black hole was formally allowed as a solution for the companion to the Be star MWC 656 (also known as HD 215227), although that was based on a single radial velocity curve of the Be star, a mistaken spectral classification and rough estimates of the inclination angle. Here we report observations of an accretion disk line mirroring the orbit of the Be star. This, together with an improved radial velocity curve of the Be star through fitting sharp Fe II profiles from the equatorial disk, and a refined Be classification (to that of a B1.5-B2 III star), reveals a black hole of 3.8 to 6.9 solar masses orbiting MWC 656, the candidate counterpart of the gamma-ray source AGL J2241+4454. The black hole is X-ray quiescent and fed by a radiatively inefficient accretion flow giving a luminosity less than 1.6 x 10-7 times the Eddington luminosity. This implies that Be binaries with black-hole companions are difficult to detect by conventional X-ray surveys.

Ancient Bronze Horse Muzzles of the Iberian Peninsula

[spa]Los bozales y las muserolas en bronce para caballo constituyen unos excepcionales complementos ecuestres cuyo conocimiento se encuentra disperso en una extensa bibliografía. De muchos ejemplares apenas se ha publicado una breve descripción y nunca hasta el presente han sido objeto de un estudio monográfico, quizás por el desaliento que produce el desconocimiento de su procedencia en unos casos, o la superficial noticia del contexto de aparición en la mayoría de ellos, hecho que ha limitado las consideraciones cronológicas y de asociación. La identificación de nuevos ejemplares inéditos en los museos de Barcelona y Lleida ha animado a los autores a emprender un trabajo que por primera vez reúne y revisa los ejemplares conocidos de la Península Ibérica, para los que se propone una descripción normalizada, una clasificación tipológica y, en determinadas piezas, una sustancial revisión de las escenas decorativas y cronologías comúnmente admitidas. La seriación formal y la propuesta de datación implican la referencia de los ejemlares aparecidos en Grecia e Italia. Esa ampliación espacial conduce a replantear los agentes sociales que pueden estar detrás de la propagación de ese complemento ecuestre hasta la peninsua más occidental del Mediterráneo. [eng] Horse muzzles and Bronze muzzles are unique equestrian tools that have been referred to in scattered accounts throughout history. Nevertheless, the majority of these objects have received short descriptions and an overall study is still missing. The lack of a comprehensive study hinges on the over looked importance of these items and the superficial manner that have characterized their documentation. Both these reasons have limited observations on chronology and archaeological investigation. The recent identification of new unpublished exemplars among the Museums" collections in Barcelona and Lleida has encouraged the authors of this paper to start a new study dedicated to these objects. Starting from a catalogue inclusive of all muzzles and muzzles currently known in the Iberian Peninsula, an attempt will be made to propose an accurate description, typological classification and, for some of the items, a revision of the decorative scenes that have marked their place in bronze horse muzzle and muzzle chronology. The formal development and the chronological framework here proposed refer to those of the exemplars found in Greece and in Italy. The broadening of the geographical area will allow reconsideration of those social phenomena that have in the past determined the diffusion of elements in horse tack throughout most of the western Peninsula in the Mediterranean.

Tipologies ceràmiques i tècniques quantitatives: apunts d"historiografia i procediments

[cas] Si bien los conceptos de «clasificación» y «tipología» han estado vinculados a la Arqueología desde las primeras seriaciones de materiales puramente descriptivas de los primeros anticuarios y diletantes de los siglos XVII-XVIII, no es menos cierto que su desarrollo ulterior durante los siglos XIX y XX madurado al abrigo del marco cientificista del positivismo decimonónico se ha visto estimulado fundamentalmente por dos factores necesarios. En primer lugar, por el permanente debate librado por las diferentes corrientes teórico-metodológicas que incansablemente han ido sacudiendo uno tras otro, en un imparable proceso dialéctico, los sucesivos paradigmas preexistentes. Y en segundo lugar, por el progreso de la tecnología informática, que permitió el procesamiento más rápido y objetivo del cada vez más numeroso y abrumador conjunto de datos generado por la investigación.

Sahalaitosten häiriömittauskäytännön yhtenäistäminen

Työn tavoitteena oli selvittää kahdeksan sahalaitoksen häiriöseurannan nykytila sekä selvittämisen jälkeen ehdottaa sahalaitoksille otettavaksi käyttöön yhtenäinen samoihin häiriön luokitus- ja kirjaamisperiaatteisiin perustuva mittauskäytäntö. Yhtenäisen käytännön myötä sahalaitoksilta saatavat häiriötiedot ovat sahalaitosten kesken vertailukelpoisia. Mittauskäytännön yhtenäistämisellä pyritään nostamaan tuotantolinjojen käytettävyyttä. Sahalaitosten häiriömittauskäytännöissä oletettiin olevan merkittäviä eroja. Työ suoritettiin lähettämällä kysymykset sähköpostilla etukäteen sahalaitoksille, jonka jälkeen käytiin sahalaitoksissa haastattelemassa häiriöasioiden kanssa tekemisissä olevia henkilöitä. Haastattelujen jälkeen sahalaitoksilta saatuja tietoja täydennettiin sähköpostin välityksellä. Näiden toimintatapojen lisäksi tutkittiin sahalaitoksilta saatuja häiriöraportteja ja syykoodilistoja sekä verrattiin tutkimuksessa satuja tuloksia aihetta käsittelevään kirjallisuuteen. Tutkimustulokset vahvistavat työn aloitusvaiheessa tehdyn oletuksen, jonka mukaan sahalaitosten häiriömittauskäytännöissä on merkittäviä eroja. Tutkimusta hyödyntäen asiantuntijatyöryhmä yhtenäisti sahalinjojen ja tasaamoiden pien-häiriöiden ja varsinaisten häiriöiden laukaisurajat sekä häiriöiden mittauspaikat. Myös syykoodilistat yhtenäistettiin. Tämän lisäksi muodostettiin yhtenäinen vertailuraportti, jotta sahalaitosten häiriötietojen vertaileminen on mahdollista.