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Análisis mutacional del gen amelogenina (AMELEX) de una familia colombiana afectada por Amelogénesis Imperfecta, usando amplificación de genoma completoMorales Gómez, Manuel Alejandro January 2017 (has links)
Trabajo de Investigación Requisito para optar al Título de Cirujano Dentista / Amelogénesis imperfecta (AI) es un término utilizado para describir un grupo
de desórdenes hereditarios de manifestación clínica y genética heterogénea, de
baja prevalencia, que afectan el desarrollo del esmalte dentario, causando
anomalías en su cantidad y calidad. Las AI se clasifican en 14 subtipos distintos
basados en el fenotipo clínico, rasgos secundarios específicos (como textura y
localización de los defectos del esmalte) y patrón de herencia.
Hasta la fecha, se han descrito al menos 13 genes relacionados con casos
de AI no sindrómica. El gen amelogenina (AMELX) es el principal gen relacionado
con AI con patrones de herencia ligada al cromosoma X y se asocia con fenotipos
hipoplásicos/hipomaduros. Actualmente, se han reportado 21 mutaciones en este
gen.
El propósito de este trabajo fue identificar mutaciones descritas o nuevas
variantes de secuencia en el gen amelogenina (AMELX), usando DNA amplificado
de un sujeto afectado perteneciente a una familia Colombiana con AI hipoplásica
que presenta un probable patrón de herencia ligado al cromosoma X.
Para llevar a cabo el estudio, se realizó un análisis clínico, genealógico y
radiográfico del probando con los datos obtenidos por las tutoras asociadas. El
análisis genético molecular consistió en la secuenciación completa del gen AMELX
incluyendo región promotora y regiones codificantes, más secuencias intrónicas
circundantes, mediante Reacción en Cadena de la Polimerasa (PCR) y
secuenciación directa de fragmentos de ADN amplificado del probando y de un
sujeto control. Posteriormente, las secuencias fueron comparadas con la secuencia
de referencia de AMELX (NM_012090.1). Paralelamente, se realizó un análisis
bioinformático de las principales variantes exónicas, intrónicas y del promotor del
gen AMELX, con el objetivo de conocer el potencial efecto que éstas podrían causar
en el gen si se encontraran presentes en la secuencias del paciente.
El análisis de los resultados no evidenció la presencia de ninguna de las 21
mutaciones reportadas o nuevas variantes de secuencia. Sin embargo, no se puede
descartar la presencia de una mutación en alguna región no cubierta en este estudio
u en otro gen del cromosoma X. Por otra parte, los resultados del análisis
bioinformático mostraron que algunas variantes missense e intrónicas poseen un
alto potencial de causar un efecto dañino en la proteína y/o en su procesamiento.
Sin embargo, estas variantes tampoco fueron encontradas en el rastreo de la
secuencia.
Los resultados obtenidos en este estudio refuerzan el concepto de una
enfermedad con manifestación clínica y genética heterogénea, causada en este
caso probablemente por un gen distinto a amelogenina. / Financiamiento: Proyecto Fondecyt Regular No. 1140905
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The urban experience as seen from the park : spatial practice in neighbourhood parks of Bogotá, Colombia.Camacho Duarte, Olga Lucia, University of Western Sydney, College of Business, School of Management January 2005 (has links)
Latin American research has addressed the role of urban landscapes in contributing to a sense of community, to social relationships, to the quality of urban life and to community development. This thesis analyses, compares and evaluates spatial practice in two local parks of Bogotá, Colombia. Spatial practice in this research is defined according to Lefebvre’s writing on the production of space. Spatial practice refers to the sensorial level of spatial phenomena; it involves uses, interactions, perceptions, influences and transformations in the everyday relationships between space and people. The two parks under investigation are located in and belong to different socioeconomic areas and the cross-class comparison of parks and spatial practice is important in a highly segregated city such as Bogotá. Locally, the two parks are part of the innovative municipal government program, ‘Parks for Learning How to Live,’ (1998-2000).This project transformed public space physically as well as residents’ perceptions of public space, parks, and outdoor recreation and leisure. The research design was qualitative because it sought information on perceptions, uses and feelings of park users.The findings identified that despite the two parks being similar in terms of their physical characteristics, they display different spatial practices that in turn reflect the socio-economic status, history, and expectations of the communities that use them. This research provides an in-depth analysis of the spatial practice in these two parks in order to start building a bottom-up framework that may be instrumental for future planning. / Doctor of Philosophy (PhD)
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Service-Learning and the Promotion of Social ResponsibilityRasch, Dana 02 April 2008 (has links)
A number of scholars have identified a crisis in the field of education. Namely, students today are more self-absorbed and individualistic than ever before. In other words, they have few social commitments and lack a sense of community. This lack of social responsibility is particularly problematic in Colombia, where a privileged few enjoy all the spoils and the elite youth are groomed as the future leaders of the country. For many, hope is all but lost on these socially irresponsible students. On the other hand, some planners and critics believe that service-learning -- which connects community service to the classroom -- is a remedy for this lack of social solidarity. With this in mind, service-learning has become increasingly popular during the past decade all over the globe, and particularly in Latin American countries such as Colombia. This research project is an evaluation of the service-learning program at one of the most elite high schools in Colombia. The project has two specific aims: (1) to document the impact of the program on the attitudes and behaviors of the students and (2) to assess the quality of the implementation of the program. In order to achieve these aims, three data collection methods -questionnaires, interviews, and focus groups - were used to paint a holistic picture of the program. Furthermore, a theoretical model of service-learning was developed as a benchmark to evaluate the program. The results revealed that the service-learning program was having a minimal impact on students' attitudes and behaviors. In fact, the analysis showed that in many instances the program was simply reinforcing stereotypes and solidifying the social division in Colombia. The failure to achieve the desired outcomes may have been due to the fact that the program did not fulfill many of the required expectations of service-learning. In the final chapter, specific recommendations are given to improve the program.
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Sounding tradition : Colombian gaita music and investment in the discourse of tradition / Colombian gaita music and investment in the discourse of traditionAgudelo, Juan Camilo 23 April 2013 (has links)
Cumbia is arguably Colombia’s best-known musical export. This popular dance music from the country’s north coast is today ubiquitous throughout Latin America, yet surprisingly little has been written about it. This report examines cumbia in its most traditional setting, the conjunto de gaitas, an ensemble featuring flutes of indigenous origin and Afro-Colombian drums. Musicians and scholars alike have interpreted the ensemble and its repertoire as a site for preserving tradition and an audible symbol of how three distinct racial groups—black, white, and indigenous—combined to form the Colombian nation. This report examines the investment in a discourse of tradition and explores how this discourse has served to sound a marginalized Colombian identity while simultaneously limiting its place within the national imaginary. After an introduction that lays out theoretical literature on tradition, race, and place, I consider three instances where the discourse of tradition has prominently shaped gaita music. First, I turn to Los Gaiteros de San Jacinto, the most successful and archetypal conjunto de gaitas. The group’s history, from its beginning as a part of a staged folklore troupe for national and international tours to its recent Grammy award win, is a prime example of how the very appeal to traditionalism that garnered the group’s success has also been its greatest limitation. Second, I turn to scholarly literature on gaitas, comparing work from the mid-20th century and the early 21st. Despite notable differences between these two historiographical moments, especially in representations of the coast, appeals to tradition remain the central narrative, delimiting alternative interpretations of race and region. A final chapter offers three case studies on how different musicians have taken gaita tradition as a point of departure. From the development of gaitas in Western tuning by Juancho Nieves and Elber Álvarez, to Carlos Vives’s use of gaitas in his pop-vallenato musical blend, and lastly to the “progressive folklore” of experimental group Curupira, I explore how these different trajectories complicate notions of tradition. / text
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Challenges and opportunities for the development of shale resources in ColombiaRodriguez Sanchez, Juan Camilo 17 February 2014 (has links)
After the success of shale gas development in the United States, countries around the world are looking within their own territories for the possibility of replicating the U.S successes in order to achieve financial and/or energy security objectives. Such enterprise has shown to be not as easy as it might have been perceived to be. Some countries like Argentina, China and Poland, where large reserves of shale resources have been identified, have struggled to obtain beneficial results from their shale operations, with the result that even the more optimistic operators are now showing more caution and are reviewing everything before making any commitments to operate in countries with identified shale resources.
Colombia, a country with strong oil and gas roots in its economic history, is actively attempting to attract operators to explore and produce their shale resources. If successful, these efforts have the potential to bring increased foreign investment to the country, while also improving Colombia’s oil and gas reserves, which have been declining over the last five years. This thesis, will address the challenges and opportunities of the development of shale resources in Colombia that operators will face by reviewing several critical aspects of the process. This thesis begins with a discussion of the geology of shale resources in Colombia, followed, first, by a review and analysis of the fiscal and contractual regime established in Colombia for the oil and gas industry, then, second, a risk analysis of possible Colombian shale operations, then third, a financial analysis of a possible shale project and, finally, ends with a summary of the challenges and opportunities an operator could face based on the analysis of the previous topics. / text
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Las trayectorias femeninas y feministas hacia lo público en Colombia (1970-2000): inclusión sin representación?Wills O., María Emma 28 August 2008 (has links)
Not available / text
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Historical evolution of organization and governance dimensions of two selected Colombian higher education institutionsContreras, Maria Andrea 28 August 2008 (has links)
Not available / text
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Civil society and peacebuilding in ColombiaErlingsson, Maria January 2013 (has links)
There is a growing interest in how to build sustainable peace in the world, preventing countries from relapsing into violent conflict. Recognising that there are several important peacebuilding actors, this Master thesis takes its point of departure in local civil society actors as a peacebuilding force. For this interpretative qualitative study, Colombia is used as the case of investigation. This is as a result of a renewed interest in the country due to the peace negotiations that were initiated between the Colombian government and the largest guerrilla group in the country, Revolutionary Armed Forces of Colombia (FARC), in October 2012. Interviews with diverse civil society actors in Colombia were used as primary data, and in addition literary reviews of primary and secondary information have been added to the material. There are diverging views of what peacebuilding means, and one of the research objectives of this thesis is to draw from previous research to build a general framework for what peacebuilding wants to achieve, i.e., identify the international peacebuilding objectives. The second research objective is to compare the seven activities and functions of civil society in peacebuilding, as described by Paffenholz and Spurk in the Comprehensive framework for the analysis of civil society in peacebuilding, to see how the work of civil society in Colombia compares to the international peacebuilding objectives. The research shows that all seven activities and functions of civil society in peacebuilding: protection, monitoring, advocacy and public communication, in-group socialisation, social cohesion, facilitation/mediation, and service delivery, are performed by the interviewed civil society actors. When the activities and functions are compared to the international peacebuilding objectives, the research demonstrates that the peacebuilding activities carried out by civil society adds to the efforts performed by other actors to achieve stability and security, restore political and judicial institutions, address socio-economic dimensions and transform relations. Acknowledging the particular regional dynamics of the Colombian internal armed conflict and recognising the need for local ownership for peacebuilding to be successful, the conclusion drawn is that peacebuilding in Colombia has to be attained at the local, regional as well as national level. The polarisation and distrust between civil society and the state hinders a joint effort to build peace in Colombia, which further complicates the prospects for attaining sustainable peace in the country. Based on the understanding gained from the conducted research, this thesis affirms that peacebuilding must be adapted to the local realities and requires active participation from both government and civil society.
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Habitat use and social behaviour of the freshwater dolphin Inia geoffrensis (de Blainville, 1817) in the Amazon and Orinoco basinsTrujillo, Fernando January 2000 (has links)
No description available.
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Usaquen urban renewal / Urban renewal, Usaquen, ColombiaViana, Claudia Patricia January 1991 (has links)
This creative projects explores urban renewal design in Usaquen, Colombia as an integral part of the city planning. The economic, social and visual qualities of the urban environment therefor become a part of a whole.The study of Usaquen revealed five major areas that deserved an in-depth look. These are transportation, urban design, land-use, zoning, recreation, tourism and historic preservation. Derived from these five categories are a list of the communities liabilities and assets. Analyzing this research produced a urban design solution depicted in policies, projects, programs, and design developments. / Department of Urban Planning
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