Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.

Xq28 duplications encompassing MECP2 have been described in male patients with a severe neurodevelopmental disorder associated with hypotonia and spasticity, severe learning disability, stereotyped movements, and recurrent pulmonary infections. We report on standardized brain magnetic resonance imaging (MRI) data of 30 affected patients carrying an Xq28 duplication involving MECP2 of various sizes (228 kb to 11.7 Mb). The aim of this study was to seek recurrent malformations and attempt to determine whether variations in imaging features could be explained by differences in the size of the duplications. We showed that 93% of patients had brain MRI abnormalities such as corpus callosum abnormalities (n = 20), reduced volume of the white matter (WM) (n = 12), ventricular dilatation (n = 9), abnormal increased hyperintensities on T2-weighted images involving posterior periventricular WM (n = 6), and vermis hypoplasia (n = 5). The occipitofrontal circumference varied considerably between >+2SD in five patients and <-2SD in four patients. Among the nine patients with dilatation of the lateral ventricles, six had a duplication involving L1CAM. The only patient harboring bilateral posterior subependymal nodular heterotopia also carried an FLNA gene duplication. We could not demonstrate a correlation between periventricular WM hyperintensities/delayed myelination and duplication of the IKBKG gene. We thus conclude that patients with an Xq28 duplication involving MECP2 share some similar but non-specific brain abnormalities. These imaging features, therefore, could not constitute a diagnostic clue. The genotype-phenotype correlation failed to demonstrate a relationship between the presence of nodular heterotopia, ventricular dilatation, WM abnormalities, and the presence of FLNA, L1CAM, or IKBKG, respectively, in the duplicated segment.

Iluminação emocional, percepção visual e bem-estar

Dissertação de Mestrado para obtenção do grau de Mestre em Design de Produto, apresentada na Universidade de Lisboa - Faculdade de Arquitectura.

Large-scale prediction of seagrass distribution: the case of Cymodocea nodosa (Mediterranean-Atlantic)

Understanding the factors that affect seagrass meadows encompassing their entire range of distribution is challenging yet important for their conservation. We model the environmental niche of Cymodocea nodosa using a combination of environmental variables and landscape metrics to examine factors defining its distribution and find suitable habitats for the species. The most relevant environmental variables defining the distribution of C. nodosa were sea surface temperature (SST) and salinity. We found suitable habitats at SST from 5.8 ºC to 26.4 ºC and salinity ranging from 17.5 to 39.3. Optimal values of mean winter wave height ranged between 1.2 m and 1.5 m, while waves higher than 2.5 m seemed to limit the presence of the species. The influence of nutrients and pH, despite having weight on the models, was not so clear in terms of ranges that confine the distribution of the species. Landscape metrics able to capture variation in the coastline enhanced significantly the accuracy of the models, despite the limitations caused by the scale of the study. By contrasting predictive approaches, we defined the variables affecting the distributional areas that seem unsuitable for C. nodosa as well as those suitable habitats not occupied by the species. These findings are encouraging for its use in future studies on climate-related marine range shifts and meadow restoration projects of these fragile ecosystems.

The visibility/invisibility paradox of trust: Developing distributed educational leadership for online communities

A visibility/invisibility paradox of trust operates in the development of distributed educational leadership for online communities. If trust is to be established, the team-based informal ethos of online collaborative networked communities requires a different kind of leadership from that observed in more formal face-to-face positional hierarchies. Such leadership is more flexible and sophisticated, being capable of encompassing both ambiguity and agile response to change. Online educational leaders need to be partially invisible, delegating discretionary powers, to facilitate the effective distribution of leadership tasks in a highly trusting team-based culture. Yet, simultaneously, online communities are facilitated by the visibility and subtle control effected by expert leaders. This paradox: that leaders need to be both highly visible and invisible when appropriate, was derived during research on 'Trust and Leadership' and tested in the analysis of online community case study discussions using a pattern-matching process to measure conversational interactions. This paper argues that both leader visibility and invisibility are important for effective trusting collaboration in online distributed leadership. Advanced leadership responses to complex situations in online communities foster positive group interaction, mutual trust and effective decision-making, facilitated through the active distribution of tasks.

Prevalencia y factores de riesgo del síndrome metabólico en pacientes con tratamiento antirretroviral (ARV) que acuden a consulta en el Hospital Vicente Corral Moscoso. Cuenca, 2015

ANTECEDENTES: Desde el año 1987, el impacto y aumento del VIH/SIDA ha llevado a implementar e incrementar combinaciones de Antirretrovirales (ARV), consiguiendo una disminución de la mortalidad en un 35%; sin embargo, nos enfrentamos a otra problemática, la aparición de efectos adversos a largo plazo de estos medicamentos, englobándole al Síndrome Metabólico. OBJETIVO GENERAL: Determinar la prevalencia y factores de riego del Síndrome Metabólico en pacientes que usen Antirretrovirales en el Hospital Vicente Corral Moscoso. METODOLOGÍA: Se realizó un Estudio Analítico - Transversal de prevalencia. Se incluyó a todos los pacientes que pertenecen a la Unidad de Atención Integral para PVVS-HVCM, mayores de 18 años, que reciben tratamiento antirretroviral por más de un mes previa autorización. La información recolectada fue analizada mediante software SPSS 5. RESULTADOS: en una población de 211 pacientes, se encontró una prevalencia del Síndrome Metabólico de 30,3% (n=64) según criterios de IDF. Las variables relacionadas al síndrome metabólico fueron: Edad 42,86 (p 0,000); Sexo femenino 51.6% y masculino 48.4% (p 0,001); IMC: sobrepeso y obesidad 82,8 (p 0,000); Perímetro abdominal 100% (p 0,000); Perfil lipídico: hipertrigliceridemia 86% (p 0,000), hipercolesterolemia 53% (p 0,012), alteración de HDL 83% (p 0,000). CONCLUSIONES: Se encontró una elevada prevalencia de Síndrome Metabólico en pacientes HIV+/SIDA con tratamiento antirretroviral pero no se pudo encontrar relación estadísticamente significativa. Mientras que los factores de riesgo fueron: edad, sexo, IMC, Perímetro Abdominal y dislipidemias

A educação alimentar no ensino de ciências : o caso das dietas alimentares

Dissertação (mestrado)—Universidade de Brasília, Instituto de Ciências Biológicas, Instituto de Física, Instituto de Química, Faculdade UnB Planaltina, Programa de Pós-Graduação em Ensino de Ciências, Mestrado Profissional em Ensino de Ciências, 2016.

Dramaturgia do aqui e agora: presença, recepção e sentido no corpo do ator

The actor is an actor during all the phases of creation and development of his character. (S) He goes beyond the moment of interpreting. In this sense, in her (his) daily life, the actor may use her (his) potential to extract from reality the necessary elements for the work of creation. This is a theoretical research which focus on the concept of presence in the actor s work, stretching the concept beyond the scene, encompassing different components such as the body, the word, the silence, the technique and the acting as the actor s stance in regards to his own reality. The objective of such stance is to integrate him (her) self in the environment, balancing his (hers) inner life with the outside life flow. To reach this objective, the research drew theoretical resources from the concept of presence in the actor s work according to BROOK, BARBA, GROTOWSKI and MNOUCHKINE and the studies on reception theory in ISER, 1996; GUMBRECHT, 2010. Thus, the dialogue between reader and actor high lights both as receivers in this work. A practical description of a street theater Kamchàtka show, featured by the Kamchàtka Company is used as an example of the research on the presence. The elements localized in this show are: play, listening, word, silence, meaning, relationship with here and now and the effects of the said presence

Hacia un enfoque epistemológico pluralista en los estudios de comunicación y cambio: humanismo, ciencia y ecologismo

El artículo propone una aproximación epistemológica pluralista a la investigación de las relaciones entre comunicación y cambio social. A tal fin, se parte de la propuesta de fusión epistemológica realizada por Johan Galtung para los Estudios para la Paz, tomando en cuenta, además, las particularidades del fenómeno de la comunicación. Según Galtung, la combinación del cartesianismo, del verum-factum (Vico) y del taoísmo permitiría contrarrestar los riesgos del monismo epistemológico y superar sus limitaciones. En este mismo sentido, el artículo plantea ampliar cada una de estas epistemologías en un nivel más general y abarcador (ciencia, humanidades, ecologismo holista-dialéctico), y describir su recorrido histórico para identificar las posibilidades de complementariedad y su valor para el estudio de la comunicación y el cambio.

An enforced cooperation : understanding scientific assessments in adversarial polities through Quebec shale gas policymaking, 2010-2014

Les biotechnologies, le réchauffement climatique, les ressources naturelles et la gestion des écosystèmes sont tous représentatifs de la “nouvelle politique de la nature” (Hajer 2003), un terme englobant les enjeux marqués par une grande incertitude scientifique et un encadrement réglementaire inadapté aux nouvelles réalités, suscitant de fait un conflit politique hors du commun. Dans l'espoir de diminuer ces tensions et de générer un savoir consensuel, de nombreux gouvernements se tournent vers des institutions scientifiques ad hoc pour documenter l'élaboration des politiques et répondre aux préoccupations des partie-prenantes. Mais ces évaluations scientifiques permettent-elles réellement de créer une compréhension commune partagée par ces acteurs politiques polarisés? Alors que l'on pourrait croire que celles-ci génèrent un climat d'apprentissage collectif rassembleur, un environnement politique conflictuel rend l'apprentissage entre opposant extrêmement improbable. Ainsi, cette recherche documente le potentiel conciliateur des évaluation scientifique en utilisant le cas des gaz de schiste québécois (2010-2014). Ce faisant, elle mobilise la littérature sur les dimensions politiques du savoir et de la science afin de conceptualiser le rôle des évaluations scientifiques au sein d'une théorie de la médiation scientifique (scientific brokerage). Une analyse de réseau (SNA) des 5751 références contenues dans les documents déposés par 268 organisations participant aux consultations publiques de 2010 et 2014 constitue le corps de la démonstration empirique. Précisément, il y est démontré comment un médiateur scientifique peut rediriger le flux d'information afin de contrer l'incompatibilité entre apprentissage collectif et conflit politique. L'argument mobilise les mécanismes cognitifs traditionnellement présents dans la théorie des médiateurs de politique (policy broker), mais introduit aussi les jeux de pouvoir fondamentaux à la circulation de la connaissance entre acteurs politiques.

Mundos Prohibidos: El Poder en el Discurso Epistolar de Gertrudis Gómez de Avellaneda y Juana Borrero

This dissertation analyses, through a theoretical framework and a critical approach, letters of Cuban writers Gertrudis Gómez de Avellaneda and Juana Borrero. While love letters have captured the interest of some scholars, such as Claudio Guillén, Cintio Vitier and Alexander Roselló Selimov, the conflict that the analysis of non-literary texts poses has prevented further research in this field. Therefore, I propose a systematic method of analysis encompassing but not limited to evaluating letters based on their purpose, intent, interpretation, and temporal and spatial composition; analyzing the perspective and function of epistolary entities, and examining the textual signs that distinguish the epistolary forms from the literary forms. With this analytical tool, I examine a selection of letters of Gómez de Avellaneda and demonstrate that the writer displaces her identify from the autobiographic self to the epistolary self, in order to manipulate the perspective of her addressee. Caught between the Neoclassical way of thinking and the Romantic aesthetics, her assertive discourse, also reflected in her epistolary work, contributed to the incursion of women writers into the social and professional life of the nineteen century. Following the same method of investigation, an analysis of letters written by Borrero proves that, by building a world of delusion, hallucination and fantasy the writer brings to prose what first generation of female modernistas had done in poetry. In both cases, my focus is on the strategies that turn these letters into instruments of power, process that transformed the love-letter paradigm and forever renovated the women epistolary genre. This dissertation further explores the possibility of initiating a cycle in the study of personal letters to uncover a forgotten genre, mission that might build a bridge to embrace the new forms of written communication that scholars have already begun to explore in contemporary literature.

An enforced cooperation : understanding scientific assessments in adversarial polities through Quebec shale gas policymaking, 2010-2014

Les biotechnologies, le réchauffement climatique, les ressources naturelles et la gestion des écosystèmes sont tous représentatifs de la “nouvelle politique de la nature” (Hajer 2003), un terme englobant les enjeux marqués par une grande incertitude scientifique et un encadrement réglementaire inadapté aux nouvelles réalités, suscitant de fait un conflit politique hors du commun. Dans l'espoir de diminuer ces tensions et de générer un savoir consensuel, de nombreux gouvernements se tournent vers des institutions scientifiques ad hoc pour documenter l'élaboration des politiques et répondre aux préoccupations des partie-prenantes. Mais ces évaluations scientifiques permettent-elles réellement de créer une compréhension commune partagée par ces acteurs politiques polarisés? Alors que l'on pourrait croire que celles-ci génèrent un climat d'apprentissage collectif rassembleur, un environnement politique conflictuel rend l'apprentissage entre opposant extrêmement improbable. Ainsi, cette recherche documente le potentiel conciliateur des évaluation scientifique en utilisant le cas des gaz de schiste québécois (2010-2014). Ce faisant, elle mobilise la littérature sur les dimensions politiques du savoir et de la science afin de conceptualiser le rôle des évaluations scientifiques au sein d'une théorie de la médiation scientifique (scientific brokerage). Une analyse de réseau (SNA) des 5751 références contenues dans les documents déposés par 268 organisations participant aux consultations publiques de 2010 et 2014 constitue le corps de la démonstration empirique. Précisément, il y est démontré comment un médiateur scientifique peut rediriger le flux d'information afin de contrer l'incompatibilité entre apprentissage collectif et conflit politique. L'argument mobilise les mécanismes cognitifs traditionnellement présents dans la théorie des médiateurs de politique (policy broker), mais introduit aussi les jeux de pouvoir fondamentaux à la circulation de la connaissance entre acteurs politiques.

Traditional Toys and Student Motivation and Commitment in Technological Education

Problem Statement: This research aims to understand the contribution of traditional toys as catalysts for motivation and student commitment in the development of Technological Education projects and activities. Research Questions: To what extent do work units related to traditional toys promote student motivation and commitment in the subject of Technological Education. Purpose of Study: Technological Education requires students to gain knowledge and know-how such that motivation and commitment are crucial for the development of classroom projects and activities. It is in this context that traditional toys are assumed to be catalysts for motivation and student interest. Research Methods: In terms of methodology, an exploratory research of a qualitative nature was carried out, based on semi-structured interviews to teachers and students within a 2nd cycle of Basic Education environment, encompassing five state schools in the Viseu municipality, Portugal. Nine teachers and forty-five technological education pupils, aged between 10 and 12, attending the 5th and 6th years of schooling participated. Findings: Content analysis of the answers revealed that the implementation of work units involving the construction of traditional toys are conducive to student motivation and commitment. Starting off with an initial idea, pupils are enabled to experience all the stages of toy building, from conception to completion, contributing to greater student satisfaction in the teaching-learning process. Conclusions: The traditional toys constitute an added value in the subject of Technological Education, promoting student motivation and commitment in the development of projects and activities. Students acquire knowledge and skills, which will enable them to analyze and thus resolve specific situations and prepare them for an increasingly technological world.

FABRICATION, CHARACTERIZATION, AND IRRADIATION OF AN AUSTENITIC OXIDE DISPERSION STRENGTHENED STEEL SUITED FOR NEXT GENERATION NUCLEAR APPLICATIONS

As nuclear energy systems become more advanced, the materials encompassing them need to perform at higher temperatures for longer periods of time. In this Master’s thesis we experiment with an oxide dispersion strengthened (ODS) austenitic steel that has been recently developed. ODS materials have a small concentration of nano oxide particles dispersed in their matrix, and typically have higher strength and better extreme temperature creep resistance characteristics than ordinary steels. However, no ODS materials have ever been installed in a commercial power reactor to date. Being a newer research material, there are many unanswered phenomena that need to be addressed regarding the performance under irradiation. Furthermore, due to the ODS material traditionally needing to follow a powder metallurgy fabrication route, there are many processing parameters that need to be optimized before achieving a nuclear grade material specification. In this Master’s thesis we explore the development of a novel ODS processing technology conducted in Beijing, China, to produce solutionized bulk ODS samples with ~97% theoretical density. This is done using relatively low temperatures and ultra high pressure (UHP) equipment, to compact the mechanically alloyed (MA) steel powder into bulk samples without any thermal phase change influence or oxide precipitation. By having solutionized bulk ODS samples, transmission electron microscopy (TEM) observation of nano oxide precipitation within the steel material can be studied by applying post heat treatments. These types of samples will be very useful to the science and engineering community, to answer questions regarding material powder compacting, oxide synthesis, and performance. Subsequent analysis performed at Queen’s University included X-ray diffraction (XRD) and inductively coupled plasma optical emission spectrometry (ICP-OES). Additional TEM in-situ 1MeV Kr2+ irradiation experiments coupled with energy dispersive X-ray (EDX) techniques, were also performed on large (200nm+) non-stoichiometric oxides embedded within the austenite steel grains, in an attempt to quantify the elemental compositional changes during high temperature (520oC) heavy ion irradiation.

Development of an activity disease score in patients with uveitis (UVEDAI)

To develop a disease activity index for patients with uveitis (UVEDAI) encompassing the relevant domains of disease activity considered important among experts in this field. The steps for designing UVEDAI were: (a) Defining the construct and establishing the domains through a formal judgment of experts, (b) A two-round Delphi study with a panel of 15 experts to determine the relevant items, (c) Selection of items: A logistic regression model was developed that set ocular inflammatory activity as the dependent variable. The construct “uveitis inflammatory activity” was defined as any intraocular inflammation that included external structures (cornea) in addition to uvea. Seven domains and 15 items were identified: best-corrected visual acuity, inflammation of the anterior chamber (anterior chamber cells, hypopyon, the presence of fibrin, active posterior keratic precipitates and iris nodules), intraocular pressure, inflammation of the vitreous cavity (vitreous haze, snowballs and snowbanks), central macular edema, inflammation of the posterior pole (the presence and number of choroidal/retinal lesions, vascular inflammation and papillitis), and global assessment from both (patient and physician). From all the variables studied in the multivariate model, anterior chamber cell grade, vitreous haze, central macular edema, inflammatory vessel sheathing, papillitis, choroidal/retinal lesions and patient evaluation were included in UVEDAI. UVEDAI is an index designed to assess the global ocular inflammatory activity in patients with uveitis. It might prove worthwhile to motorize the activity of this extraarticular manifestation of some rheumatic diseases.

Les mouvances réglementaires entourant la profession comptable au lendemain de crises financières : propagation du discours néolibéral, production de mythes et gouvernance en silo

C’est en réponse aux plus récentes crises financières que plusieurs processus réglementaires – dont certains constituent les objets d’étude de cette thèse – ont été déployés pour concevoir et implanter diverses réformes « d’amélioration » au sein de la pratique professionnelle des auditeurs financiers. Tant la crise du début des années 2000 que celle de 2007-2008 auraient attiré de vives critiques à l’égard du travail des auditeurs et de leur contribution (prétendument défaillante) au sein du fonctionnement des marchés des capitaux. Considérant leur fonction de « chien de garde » qui est censée assurer, avant tout, la protection du public au sein de ces marchés, il semblait inévitable que leur travail soit, dans une certaine mesure, remis en doute à travers les processus de révision réglementaire mis en place. C’est ainsi que chacun des trois articles qui composent cette thèse offre une analyse de différents aspects – tels que la mise en place, le déroulement, la nature et la substance des discours et des résultats – liés à ces processus de révision réglementaire qui entourent la pratique professionnelle des auditeurs au lendemain des crises financières. En somme, en plus d’indiquer comment ces processus ne sont point à l’abri de controverses, les conclusions de cette thèse inciteront à ce qu’une attention sérieuse soit portée à leur égard afin de préserver le bienfondé de la profession des comptables et des auditeurs. Alors que, dans le premier article, il sera question d’illustrer l’infiltration (critiquable) d’un discours néolibéral au sein des débats qui entourent les processus de révision réglementaire dont il est question, dans le deuxième article, il sera question d’exposer, au sein de ces processus, un mécanisme de production de mythes prônant un certain statu quo. Par ailleurs, dans le dernier article, en plus de mettre en évidence le fait que les approches de gouvernance déployées à travers ces processus de révision réglementaire ne sont pas suffisamment englobantes, on pourra aussi prendre conscience de l’inféodation de l’expertise de l’audit face à son environnement (et plus précisément, face aux expertises de la normalisation comptable et de la financiarisation de l’économie). Sous un regard critique, et à travers des analyses qualitatives, chacun des articles de cette thèse permettra de remettre en question certaines facettes des processus réglementaires et institutionnels qui entourent le champ de la comptabilité et de l’audit.