Intervención social para la integración de familias gitanas en la sociedad paya.

Resumen tomado del autor

Evidence for classification of c.1852_1853AA > GC in MLH1 as a neutral variant for Lynch syndrome

Background: Lynch syndrome (LS) is an autosomal dominant inherited cancer syndrome characterized by early onset cancers of the colorectum, endometrium and other tumours. A significant proportion of DNA variants in LS patients are unclassified. Reports on the pathogenicity of the c.1852_1853AA>GC (p.Lys618Ala) variant of the MLH1 gene are conflicting. In this study, we provide new evidence indicating that this variant has no significant implications for LS. Methods: The following approach was used to assess the clinical significance of the p.Lys618Ala variant: frequency in a control population, case-control comparison, co-occurrence of the p.Lys618Ala variant with a pathogenic mutation, co-segregation with the disease and microsatellite instability in tumours from carriers of the variant. We genotyped p.Lys618Ala in 1034 individuals (373 sporadic colorectal cancer [CRC] patients, 250 index subjects from families suspected of having LS [revised Bethesda guidelines] and 411 controls). Three well-characterized LS families that fulfilled the Amsterdam II Criteria and consisted of members with the p.Lys618Ala variant were included to assess co-occurrence and co-segregation. A subset of colorectal tumour DNA samples from 17 patients carrying the p.Lys618Ala variant was screened for microsatellite instability using five mononucleotide markers. Results: Twenty-seven individuals were heterozygous for the p.Lys618Ala variant; nine had sporadic CRC (2.41%), seven were suspected of having hereditary CRC (2.8%) and 11 were controls (2.68%). There were no significant associations in the case-control and case-case studies. The p.Lys618Ala variant was co-existent with pathogenic mutations in two unrelated LS families. In one family, the allele distribution of the pathogenic and unclassified variant was in trans, in the other family the pathogenic variant was detected in the MSH6 gene and only the deleterious variant co-segregated with the disease in both families. Only two positive cases of microsatellite instability (2/17, 11.8%) were detected in tumours from p.Lys618Ala carriers, indicating that this variant does not play a role in functional inactivation of MLH1 in CRC patients. Conclusions: The p.Lys618Ala variant should be considered a neutral variant for LS. These findings have implications for the clinical management of CRC probands and their relatives.

Tomorrow's cities - a framework for building resilience

Urbanisation is the great driving force of the twenty-first century. Cities are associated with both productivity and creativity, and the benefits offered by closely connected and high density living and working contribute to sustainability. At the same time, cities need extensive infrastructure – like water, power, sanitation and transportation systems – to operate effectively. Cities therefore comprise multiple components, forming both static and dynamic systems that are interconnected directly and indirectly on a number of levels, all forming the backdrop for the interaction of people and processes. Bringing together large numbers of people and complex products in rich interactions can lead to vulnerability from hazards, threats and even trends, whether natural hazards, epidemics, political upheaval, demographic changes, economic instability and/or mechanical failures; The key to countering vulnerability is the identification of critical systems and clear understanding of their interactions and dependencies. Critical systems can be assessed methodically to determine the implications of their failure and their interconnectivities with other systems to identify options. The overriding need is to support resilience – defined here as the degree to which a system or systems can continue to function effectively in a changing environment. Cities need to recognise the significance of devising adaptation strategies and processes to address a multitude of uncertainties relating to climate, economy, growth and demography. In this paper we put forward a framework to support cities in understanding the hazards, threats and trends that can make them vulnerable to unexpected changes and unpredictable shocks. The framework draws on an asset model of the city, in which components that contribute to resilience include social capital, economic assets, manufactured assets, and governance. The paper reviews the field, and draws together an overarching framework intended to help cities plan a robust trajectory towards increased resilience through flexibility, resourcefulness and responsiveness. It presents some brief case studies demonstrating the applicability of the proposed framework to a wide variety of circumstances.

Life-Cycle Energy Analysis of a Modular/Off-Site Building School

This paper is concerned with assessing the building’s the energy efficiency and qualities of a modular design for the education industry, in order assess the long economic benefits. The research includes a life-cycle energy and cost analysis of the school building design, predicting the impact on the operational cost of the building as a result of the addition of photovoltaic panels. The paper also includes a comparative study between the ECO Modular Solutions building, and a current standard prefabricated school building, quantifying the savings in CO2 emissions and savings in cost.

Large scale test of a novel back-pass non-perforated unglazed solar air collector

This paper describes large scale tests conducted on a novel unglazed solar air collector system. The proposed system, referred to as a back-pass solar collector (BPSC), has on-site installation and aesthetic advantages over conventional unglazed transpired solar collectors (UTSC) as it is fully integrated within a standard insulated wall panel. This paper presents the results obtained from monitoring a BPSC wall panel over one year. Measurements of temperature, wind velocity and solar irradiance were taken at multiple air mass flow rates. It is shown that the length of the collector cavities has a direct impact on the efficiency of the system. It is also shown that beyond a height-to-flow ratio of 0.023m/m³/hr/m², no additional heat output is obtained by increasing the collector height for the experimental setup in this study, but these numbers would obviously be different if the experimental setup or test environment (e.g. location and climate) change. An equation for predicting the temperature rise of the BPSC is proposed.

Higher-order moments in the theory of diversifying and portfolio composition

This paper examines the role of higher-order moments in portfolio choice within an expected-utility framework. We consider two-, three-, four- and five-parameter density functions for portfolio returns and derive exact conditions under which investors would all be optimally plungers rather than diversifiers. Through comparative statics we show the importance of higher-order risk preference properties, such as riskiness, prudence and temperance, in determining plunging behaviour. Empirical estimates for the S&P500 provide evidence for the optimality of diversification.

Utilidad de la resonancia magnética en el diagnóstico de apendicitis aguda

Comparar el resultado de la resonancia magnética en el diagnóstico de apendicitis aguda con el patrón de oro (estudio histopatológico o seguimiento clínico del paciente) con el fin de establecer la utilidad de ésta como prueba diagnóstica y poder incluirla dentro del algoritmo de estudio de esta patología cuando hay sospecha clínica y un resultado negativo o dudoso de la ecografía abdominal

Incidencia y factores asociados a infecciones bacterianas en el primer mes postrasplante hepático en la Fundación Cardioinfantil

Introducción: El trasplante hepático ortotópico es la colocación de un nuevo hígado en la misma ubicación del explantado. El objetivo es prolongar la duración y la calidad de vida en pacientes con enfermedades hepáticas terminales. Sin embargo, las infecciones bacterianas son una complicación en los pacientes receptores del trasplante, comprometiendo el éxito del procedimiento. El objetivo fue determinar los factores asociados a infecciones bacterianas en el primer mes tras realizada la intervención y describir las características demográficas de esa población. De 332 trasplantes realizados, que 262 cumplieron criterios para el análisis. Métodos: Se realizó un estudio observacional analítico de casos y controles anidado en una cohorte, en mayores de 18 años, receptores de trasplante hepático primario, de la FCI-IC de 2005 a 2014; excluyendo trasplante combinado hígado riñón, retrasplantes o fallecidos por causa diferente a la infecciosa durante el primer mes. Resultados: Se encontró que la ventilación mecánica por más de 1 día, el catéter venoso central mayor de 3 días son los principales factores de riesgo para infecciones bacterianas. La albúmina mayor de 2,6gr/dl se asoció a menor infección. Los agentes etiológicos predominantes fueron gérmenes gram negativos como E. coli, K. pneumonia y E. cloacae. Mientras que bacteremia, infección urinaria y peritonitis fueron las infecciones más frecuentes. La incidencia de infección bacteriana en esta población fue 24%. Discusión: Se recomienda por tanto extubación antes de 24 horas, uso de catéter central menor de 3 días y limitar el uso del catéter vesical.

Jean-Jacques Rousseau i la socialització incompleta : individu i societat com a construccions socials. 'Jean-Jacques Rousseau y la socialización incompleta : individuo y sociedad como construcciones sociales'.

Recuperar la figura de Rousseau para la tradición sociológica analizando su obra desde una perspectiva global. Mostrar la interrelación de los aspectos sociales, políticos y pedagógicos de la obra de Rousseau.. El objeto de estudio es el pensamiento sociológico de Rousseau a través de sus escritos. Se analizan las siguientes obras: 'Confessions', 'Considerations sur le governement de Pologne', 'Contrat social', 'Rousseau juge de Jean Jacques, dialogues', 'Discours sur le sciences et les arts', 'Emile', 'Essai sur l'origine des langues', 'Discours sur l'economie politique', 'Manuscrit de Geneve', 'Narcise ou l'amant de lui-meme', 'Julie ou la nouvelle Eloise', 'Project de constitution pour la Corse et fragments' y 'Correspondences generales de J.J. Rousseau'. . La investigación se divide en 7 capítulos en cada uno de los cuales se analiza un aspecto determinado del pensamiento de Rousseau a partir de los textos indicados. E primer capítulo se centra en el origen de la sociedad y la política. El segundo capítulo estudia la sociedad como artificio. El tercer capítulo se centra en el cuerpo político y el vínculo social. El cuarto capítulo trata sobre la libertad individual y la voluntat general. El quinto capítulo estudia al hombre natural en relación al hombre civil, el sexto capítulo focaliza sobre las relaciones entre educación y naturaleza y el séptimo y último capítulo lo hace sobre la própia socialización: el ideal y lo imposible.. Bibliografía. . Análisis de textos.. Se constata un cierto dualismo en la obra de Rousseau, entendiéndose dicho dualismo como la capacidad de decantarse por dos opciones contrapuestas en función de las circunstancias particulares. Rousseau parece defender un cierto modelo de organicismo social basado en la necesidad de la existencia del estado y el educador para la existencia social del hombre..