3,080 research outputs found

    Cognitive outcome and gamma noise power unrelated to neuregulin 1 and 3 variation in schizophrenia

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    Background Neuregulins are a family of signalling proteins that orchestrate a broad range of cellular responses. Four genes encoding Neuregulins 1–4 have been identified so far in vertebrates. Among them, Neuregulin 1 and Neuregulin 3 have been reported to contribute to an increased risk for developing schizophrenia. We hypothesized that three specific variants of these genes (rs6994992 and rs3924999 for Neuregulin 1 and rs10748842 for Neuregulin 3) that have been related to this illness may modify information processing capacity in the cortex, which would be reflected in electrophysiological parameters (P3b amplitude or gamma noise power) and/or cognitive performance. Methods We obtained DNA from 31 patients with schizophrenia and 23 healthy controls and analyzed NRG1 rs6994992, NRG1 rs3924999 and NRG3 rs10748842 promoter polymorphisms by allelic discrimination with real-time polymerase chain reaction (PCR). We compared cognitive outcome, P300 amplitude parameters and an electroencephalographic measure of noise power in the gamma band between the groups dichotomized according to genotype. Results Contrary to our hypothesis, we could not detect any significant influence of variation in Neuregulin 1/Neuregulin 3 polymorphisms on cognitive performance or electrophysiological parameters of patients with schizophrenia. Conclusions Despite our findings, we cannot discard that other genetic variants and, more likely, interactions between those variants and with genetic variation related to different pathways may still influence cerebral processing in schizophrenia

    Análisis de la heterogeneidad molecular y la evolución clonal en la leucemia linfática crónica mediante la combinación de tecnologías genómicas y transcriptómicas de alto rendimiento

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    [ES] La leucemia linfática crónica (LLC) es un tipo de síndrome linfoproliferativo crónico que se caracteriza por la expansión clonal de linfocitos B clonales en sangre periférica durante al menos más de tres meses. Es una enfermedad heterogénea con gran variabilidad clínica. El curso de los pacientes puede ser desde muy indolente con una esperanza de vida cercana a la normal hasta una enfermedad que progresa rápidamente dirigiendo a una muerte temprana. Los análisis de secuenciación masiva a gran escala (NGS) han revelado una clara evidencia de la heterogeneidad genética entre pacientes que puede conducir el curso clínico variable de la enfermedad. En este sentido, el uso de técnicas moleculares de alto rendimiento puede contribuir a un mejor conocimiento de las bases moleculares que subyacen tras la heterogeneidad clínica en la LLC: 1. Los pacientes con LLC que tienen deleción de 13q (13q-) como única alteración citogenética mostraron un perfil de expresión de miRNA diferente atendiendo al número de células con 13q-. Así, los linfoticos B clonales de los pacientes con LLC y un alto número de pérdidas de 13q mostraron una infraexpresión del miR-143 y sobreexpresión del miR-155, lo que puede conducir a una menor apoptosis y mayor proliferación. Estos resultados aportan nuevos conocimientos sobre los mecanismos transcriptómicos que subyacen a la variabilidad en el curso clínico entre los pacientes con LLC y 13q- y mejoran nuestro entendimiento sobre el curso clínico desfavorable de los pacientes con LLC y alta carga de células 13q- 3. Los pacientes con deleción en 11q (11q-) representan un grupo heterogéneo y el número de células con esta alteración está relacionado con su pronóstico. Los pacientes con un bajo número de pérdidas en 11q (<40%) se caracterizan por mostrar una supervivencia global y un tiempo hasta el primer tratamiento mayor que los casos con un alto porcentaje de células 11q-. 4. Un número menor de pacientes con bajo porcentaje de células con pérdidas en 11q mostraron mutaciones genéticas comparado con el subgrupo de enfermos con un alto número de células 11q-. Diferencias clínicas observadas en este subgrupo de LLCs con 11q- podrían deberse a la heterogeneidad genética relacionada con el estado mutacional. 5. Un análisis integrativo de arrays de expresión génica y secuenciación masiva reveló sobreexpresión del gen TET2 en linfocitos B clonales en pacientes con LLC pero no se observaron mutaciones somáticas en las regiones codificantes de este gen, sugiriendo que el gen TET2 podría ser un nuevo candidato involucrado en la LLC. Estos datos sugieren que sería interesante profundizar en el conocimiento de la desregulación de TET2 en la LLC. 6. La secuenciación del exoma completo de muestras de LLC pareadas antes de recibir tratamiento mostraron una mayor heterogeneidad intratumoral en los pacientes con LLC con una enfermedad progresiva que los casos con una LLC clínicamente estable. La evolución de la enfermedad está acompañada de la aparición o selección de mutaciones drivers como las mutaciones de TP53, BIRC3 y CARD11, confirmando que la evolución clonal es un evento clave en la progresión de la LLC

    Strain analysis of multiferroic BiFeO3-CoFe2O4 nanostructures by Raman scattering

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    We report a Raman scattering investigation of columnar BiFeO3-CoFe2O4 (BFO-CFO) epitaxial thin film nanostructures, where BFO pillars are embedded in a CFO matrix. The feasibility of a strain analysis is illustrated through an investigation of two nanostructures with different BFO-CFO ratios. We show that the CFO matrix presents the same strain state in both nanostructures, while the strain state of the BFO pillars depends on the BFO/CFO ratio with an increasing tensile strain along the out-of-plane direction with decreasing BFO content. Our results demonstrate that Raman scattering allows monitoring strain states in complex 3D multiferroic pillar/matrix composites.Comment: revised version submitted to Appl. Phys. Let

    Updating known distribution models for forecasting climate change impact on endangered species

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    To plan endangered species conservation and to design adequate management programmes, it is necessary to predict their distributional response to climate change, especially under the current situation of rapid change. However, these predictions are customarily done by relating de novo the distribution of the species with climatic conditions with no regard of previously available knowledge about the factors affecting the species distribution. We propose to take advantage of known species distribution models, but proceeding to update them with the variables yielded by climatic models before projecting them to the future. To exemplify our proposal, the availability of suitable habitat across Spain for the endangered Bonelli’s Eagle (Aquila fasciata) was modelled by updating a pre-existing model based on current climate and topography to a combination of different general circulation models and Special Report on Emissions Scenarios. Our results suggested that the main threat for this endangered species would not be climate change, since all forecasting models show that its distribution will be maintained and increased in mainland Spain for all the XXI century. We remark on the importance of linking conservation biology with distribution modelling by updating existing models, frequently available for endangered species, considering all the known factors conditioning the species’ distribution, instead of building new models that are based on climate change variables only.Ministerio de Ciencia e Innovación and FEDER (project CGL2009-11316/BOS

    Tear fluid biomarkers in ocular and systemic disease: potential use for predictive, preventive and personalised medicine

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    In the field of predictive, preventive and personalised medicine, researchers are keen to identify novel and reliable ways to predict and diagnose disease, as well as to monitor patient response to therapeutic agents. In the last decade alone, the sensitivity of profiling technologies has undergone huge improvements in detection sensitivity, thus allowing quantification of minute samples, for example body fluids that were previously difficult to assay. As a consequence, there has been a huge increase in tear fluid investigation, predominantly in the field of ocular surface disease. As tears are a more accessible and less complex body fluid (than serum or plasma) and sampling is much less invasive, research is starting to focus on how disease processes affect the proteomic, lipidomic and metabolomic composition of the tear film. By determining compositional changes to tear profiles, crucial pathways in disease progression may be identified, allowing for more predictive and personalised therapy of the individual. This article will provide an overview of the various putative tear fluid biomarkers that have been identified to date, ranging from ocular surface disease and retinopathies to cancer and multiple sclerosis. Putative tear fluid biomarkers of ocular disorders, as well as the more recent field of systemic disease biomarkers, will be shown

    Fifth European Dirofilaria and Angiostrongylus Days (FiEDAD) 2016

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    Customized normalization clustering meth-odology for consumers with heterogeneous characteristics

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    The increasing use and development of renewable energy sources and distributed generation, brought several changes to the power system operation. Electricity markets worldwide are complex and dynamic environments with very particular characteristics, resulting from their restructuring and evolution into regional and continental scales, along with the constant changes brought by the increasing necessity for an adequate integration of renewable energy sources. With the eminent implementation of micro grids and smart grids, new business models able to cope with the new opportunities are being developed. Virtual Power Players are a new type of player, which allows aggregating a diversity of entities, e.g. generation, storage, electric vehicles, and consumers, to facilitate their participation in the electricity markets and to provide a set of new services promoting generation and consumption efficiency, while improving players` benefits. This paper proposes a clustering methodology regarding the remuneration and tariff of VPP. It proposes a model to implement fair and strategic remuneration and tariff methodologies, using a clustering algorithm, applied to load values, submitted to different types of normalization process, which creates sub-groups of data according to their correlations. The clustering process is evaluated so that the number of data sub-groups that brings the most added value for the decision making process is found, according to the players characteristics. The proposed clustering methodology has been tested in a real distribution network with 30 bus, including residential and commercial consumers, photovoltaic generation and storage unit
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