132 research outputs found

    Genetics and Epigenetics of Nasal Polyposis: A Systematic Review

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    [EN] Chronic rhinosinusitis (CRS) is an inflammatory disease of the nose and paranasal sinuses that is often associated with nasal polyposis (CRSwNP) in the most severe cases. As in other complex diseases, genetic factors are thought to play an important role in the risk and development of the disease. Environment may also modulate the epigenetic signature in affected patients. In the present systematic review, we aimed to compile all published data on genetic and epigenetic variations in CRSwNP since 2000. We found 104 articles, 24 of which were related to epigenetic studies. We identified more than 150 genetic variants in 99 genes involved in the pathogenesis of nasal polyposis. These were clustered into 8 main networks, linking genes involved in inflammation and immune response (eg, MHC), cytokine genes (eg, TNF), leukotriene metabolism, and the extracellular matrix. A total of 89 miRNAs were also identified; these are associated mainly with biological functions such as the cell cycle, inflammation, and the immune response. We propose a potential relationship between genes and the miRNAs identified that may open new lines of investigation. An in-depth knowledge of gene variants and epigenetic traits could help us to design more tailored treatment for patients with CRSwNP.Thematic Network of Cooperative Research in Health - RETICS (Red temática de investigación en salud Asma, Reacciones Adversas y Alérgicas, ARADYAL) of the Instituto de Salud Carlos II

    Training adults and children with an autism spectrum disorder to be compliant with a clinical dental assessment using a TEACCH-based approach

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    The specific neuropsychological and sensory profile found in persons with autism spectrum disorders complicate dental procedures and as a result of this, most are treated under general anesthesia or unnecessary sedation. The main goal of the present study was to evaluate the effectiveness of a short treatment and education of autistic and related communication-handicapped children-based intervention program (five sessions) to facilitate a 10-component oral assessment in children (n = 38, aged 4¿9 years) and adults (n = 34, aged 19¿41) with autism spectrum disorder (with or without associated intellectual disability). The assessment ranges from entering into the examination room to the evaluation of the dental occlusion. There were statistically significant differences in the number of components reached and in compliance before and after the training program

    Genetic Engineering of Trypanosoma (Dutonella) vivax and In Vitro Differentiation under Axenic Conditions

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    Trypanosoma vivax is one of the most common parasites responsible for animal trypanosomosis, and although this disease is widespread in Africa and Latin America, very few studies have been conducted on the parasite's biology. This is in part due to the fact that no reproducible experimental methods had been developed to maintain the different evolutive forms of this trypanosome under laboratory conditions. Appropriate protocols were developed in the 1990s for the axenic maintenance of three major animal Trypanosoma species: T. b. brucei, T. congolense and T. vivax. These pioneer studies rapidly led to the successful genetic manipulation of T. b. brucei and T. congolense. Advances were made in the understanding of these parasites' biology and virulence, and new drug targets were identified. By contrast, challenging in vitro conditions have been developed for T. vivax in the past, and this per se has contributed to defer both its genetic manipulation and subsequent gene function studies. Here we report on the optimization of non-infective T. vivax epimastigote axenic cultures and on the process of parasite in vitro differentiation into metacyclic infective forms. We have also constructed the first T. vivax specific expression vector that drives constitutive expression of the luciferase reporter gene. This vector was then used to establish and optimize epimastigote transfection. We then developed highly reproducible conditions that can be used to obtain and select stably transfected mutants that continue metacyclogenesis and are infectious in immunocompetent rodents

    Analysis of Gene Order Conservation in Eukaryotes Identifies Transcriptionally and Functionally Linked Genes

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    The order of genes in eukaryotes is not entirely random. Studies of gene order conservation are important to understand genome evolution and to reveal mechanisms why certain neighboring genes are more difficult to separate during evolution. Here, genome-wide gene order information was compiled for 64 species, representing a wide variety of eukaryotic phyla. This information is presented in a browser where gene order may be displayed and compared between species. Factors related to non-random gene order in eukaryotes were examined by considering pairs of neighboring genes. The evolutionary conservation of gene pairs was studied with respect to relative transcriptional direction, intergenic distance and functional relationship as inferred by gene ontology. The results show that among gene pairs that are conserved the divergently and co-directionally transcribed genes are much more common than those that are convergently transcribed. Furthermore, highly conserved pairs, in particular those of fungi, are characterized by a short intergenic distance. Finally, gene pairs of metazoa and fungi that are evolutionary conserved and that are divergently transcribed are much more likely to be related by function as compared to poorly conserved gene pairs. One example is the ribosomal protein gene pair L13/S16, which is unusual as it occurs both in fungi and alveolates. A specific functional relationship between these two proteins is also suggested by the fact that they are part of the same operon in both eubacteria and archaea. In conclusion, factors associated with non-random gene order in eukaryotes include relative gene orientation, intergenic distance and functional relationships. It seems likely that certain pairs of genes are conserved because the genes involved have a transcriptional and/or functional relationship. The results also indicate that studies of gene order conservation aid in identifying genes that are related in terms of transcriptional control

    Movilidad urbana y pobreza: Aprendizajes de Medellín y Soacha, Colombia

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    Este libro es un análisis de la experiencia de Medellín, la segunda ciudad de Colombia, en intentar reducir la pobreza e integrar en el tejido urbano barrios marginalizados y estigmatizados durante muchos años por la pobreza y la violencia. En particular, examina el impacto de dos cables aéreos que conectan densos barrios en colinas empinadas con el resto de la ciudad, y un programa de mejoramiento urbano asociado a estos. También contrasta la experiencia exitosa de Medellín con la de Soacha, un municipio adyacente a Bogotá, la capital colombiana, donde se ha propuesto un cable aéreo como medio de conexión de dos barrios en colina con una vía arteria. El contraste entre un municipio bien gestionado y abundante en recursos como Medellín con un municipio denso, homogéneamente pobre e institucionalmente débil como Soacha ofrece aprendizajes muy valiosos para otras ciudades en América Latina y otras regiones del mundo. La mayor parte de los capítulos se apoyan en un proyecto de investigación de dos años coordinado por la Development Planning Unit, University College London (UCL), en asocio con la Universidad Nacional de Colombia (sede Medellín) y la Universidad de los Andes de Bogotá. Además de estudios de caso detallados de Medellín y Soacha, el libro agrupa también casos en América Latina en donde se han construido o se han propuesto cables aéreos en barrios de bajos ingresos, como Caracas y Rio de Janeiro

    Urban Mobility and Poverty: Lessons from Medellin and Soacha, Colombia

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    This book examines the experience of Medellín, Colombia's second largest city, in seeking to reduce poverty and integrate large marginalised areas, marked by years of severe poverty and violence, into the urban fabric. It pays particular attention to the impact of two aerial cable-cars connecting high density hilly neighbourhoods with the rest of the city, and an associated urban upgrading programme. It also contrasts Medellín’s successful experience with that of Soacha, a municipality adjacent to Bogotá, Colombia’s capital city, where an aerial cable-car has been proposed as a means of linking two low-income hilly neighbourhoods with a main arterial road. The contrast between a well-resourced, well-managed municipality like Medellín with a dense and homogenously poor and institutionally weak municipality like Soacha offers valuable lessons to other cities in Latin America and elsewhere. Contributions draw from a two-year research project coordinated by the Development Planning Unit, University College London (UCL), in conjunction with Universidad Nacional de Colombia (Medellín campus) and Universidad de los Andes in Bogotá. In addition to the detailed case studies of Medellín and Soacha, the book also brings together cases in Latin America where aerial cable-cars have either been built or proposed in low-income neighbourhoods, including Caracas and Rio de Janeiro

    Developments in the Photonic Theory of Fluorescence

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    Conventional fluorescence commonly arises when excited molecules relax to their ground electronic state, and most of the surplus energy dissipates in the form of photon emission. The consolidation and full development of theory based on this concept has paved the way for the discovery of several mechanistic variants that can come into play with the involvement of laser input – most notably the phenomenon of multiphoton-induced fluorescence. However, other effects can become apparent when off-resonant laser input is applied during the lifetime of the initial excited state. Examples include a recently identified scheme for laser-controlled fluorescence. Other systems of interest are those in which fluorescence is emitted from a set of two or more coupled nanoemitters. This chapter develops a quantum theoretical outlook to identify and describe these processes, leading to a discussion of potential applications ranging from all-optical switching to the generation of optical vortices
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