HCAD, closing the gap between breakpoints and genes

Recurrent chromosome aberrations are an important resource when associating human pathologies to specific genes. However, for technical reasons a large number of chromosome breakpoints are defined only at the level of cytobands and many of the genes involved remain unidentified. We developed a web-based information system that mines the scientific literature and generates textual and comprehensive information on all human breakpoints. We show that the statistical analysis of this textual information and its combination with genomic data can identify genes directly involved in DNA rearrangements. The Human Chromosome Aberration Database (HCAD) is publicly accessible at http://www.pdg.cnb.uam.es/UniPub/HCAD/

Mecanismo de cooperación y solidaridad en situaciones de crisis de suministro de gas natural en la Unión Europea

Este proyecto nace a raíz de la nueva Regulación 1938/2017 de la Unión Europea sobre medidas a aplicar en situaciones de crisis de suministro de gas y más concretamente en las nuevas formas de cooperación entre Estados miembros UE para asegurar el abastecimiento de gas a los clientes protegidos de un Estado en emergencia de gas: los mecanismos de solidaridad.En los primeros apartados del trabajo se presenta una breve introducción a la situación actual del sistema gasista de la Unión Europea y sus infraestructuras y un estudio más a fondo de los artículos del Reglamento UE 1938/2017 en materia de cooperación entre Estados. El desarrollo del proyecto está fundamentado en un análisis de los distintos Planes de Emergencia de los Estados miembros de la Unión Europea con dos objetivos principales: la extracción y puesta en común de medidas correctivas ante situaciones de emergencia de gas definidas por cada país y el estudio de sus capítulos de cooperación regional y solidaridad. Finalmente, el último apartado consiste en un estudio de las principales infraestructuras europeas, centrado en su evolución durante los últimos 10 años, para observar la repercusión o no del Reglamento en las políticas gasistas de los Estados miembros y sacar conclusiones sobre el estado actual de la cooperación ante crisis de suministro en la UE.<br /

Pitfalls in spontaneous in vitro transformation of human mesenchymal stem cells

Spontaneous in vitro transformation of human primary cells was, and continues to be, a scarcely described phenomenon. Only the description of the generation of the HaCAT cell line [1] is a canonical example, worldwide accepted. More recent examples included the emergence of tumorogenic populations upon in vitro culture of fetal human mesenchymal stem cells (hMSC), induced by GM-CSF and IL-4, [2] and bone marrow hMSC [3]. Other examples have also been reported after very long-term in vitro culture of telomerized hMSCTerT [4]. In this scenario, our previous results [5-7] were only a new observation to be added to this list. Only very recently similar results have been published [8], reporting spontaneous malignant transformation in 46 % of bone marrow–derived hMSC long-term cultures (5–106 weeks). However, other authors reported opposite results.S

Aprendemos a reciclar en Educación Infantil

El presente Trabajo de Fin de Grado consiste en la realización de un proyecto educativo centrado en la enseñanza de la Educación Ambiental, a través del cual se pretende introducir hábitos de reciclaje en un grupo de alumnos de 1º de Educación Infantil

Diseño de sistema de climatización para piscina exterior mediante paneles solares térmicos

El objetivo principal de este proyecto es el diseño en su totalidad del sistema de calentamiento de una piscina exterior en Zaragoza mediante paneles solares térmicos integrados en el sistema de filtrado.En el proyecto se lleva a cabo un análisis de los distintos tipos de pérdidas de calor en la piscina y su contribución a la demanda total de calor de la piscina, para, calculando también la irradiación solar en la localización de la piscina, hallar la superficie de colectores solares necesaria para llevar el agua de la piscina hasta una temperatura agradable de baño. También se calculan y escogen de forma específica todos los elementos necesarios en la instalación como bombas, tuberías, sistema de control...Finalmente, se calculará el coste total de la instalación y se estudiará su rentabilidad.<br /

Isolation and characterization of residual undifferentiated mouse embryonic stem cells from embryoid body cultures by fluorescence tracking

The differentiation of mouse embryonic stem (ES) cells can be induced in vitro after leukemia inhibitory factor (LIF) withdrawal and further enhanced by the formation of “embryoid body” (EB) aggregates. This strategy is being used in order to optimize differentiation protocols that would result in functional cells for experimental cell replacement therapies. However, this study presents the possibility for residual undifferentiated cells to survive after standard in vitro procedures. Mouse ES cells were stably transfected with the enhanced green fluorescent protein (EGFP), under the control of the Oct4 promoter, a transcription factor that is expressed in undifferentiated ES cells but down-regulated on differentiation. Residual fluorescent cells were isolated from EBs that were cultured in standard conditions in absence of LIF. These residual cells displayed recurrent gain of chromosomes 8 and 9. Residual fluorescent cells, further expanded in absence of LIF and cultured as EBs, still displayed a significant Oct4 expression in comparison with parental transfected ES cells. Consequently, these residual cells have an intrinsic resistance to differentiate. The behavior of these cells, observed in vitro, can be overcome in vivo, as they were able to induce teratomas in subcutaneously injected nude mice. Residual undifferentiated cells displayed slight levels of VASA and DAZL expression. These results demonstrate that mouse ES cells cultured in vitro, in standard conditions, can spontaneously acquire recurrent karyotypical changes that may promote an undifferentiated stage, being selected in standard culture conditions in vitro

Long-Term Skin Regeneration From a Gene-Targeted Human Epidermal Stem Cell Clone

Ex vivo gene therapy is one of the current strategies being tested to treat genodermatoses such as epidermolysis bullosa (EB).1 In fact, Mavilio et al. proved the feasibility of this therapeutic modality in a patient with the junctional form of EB (JEB).2 Efforts are now being directed toward the development of efficient approaches minimizing potential genotoxic effects due to vector-induced insertional mutagenesis. Gene correction by gene editing through nucleasefacilitated homologous recombination (HR) has recently been proven to be achievable on recessive dystrophic EB cells that were subsequently reprogrammed to induced pluripotent stem cells (iPSCs) and differentiated to collagen VII–expressing keratinocytes.3 We have also demonstrated the feasibility of zinc-finger nuclease–facilitated, HR-mediated insertion of a marker gene into the intron 1 of the PPP1R12C gene (AAVS1 locus) in a limited number of human epidermal repopulating cells that, upon grafting, persisted as small foci in skin regenerated in immunodeficient mice.4 In this study we report that engraftment and persistent skin regeneration can be achieved with an expanded stem cell clone isolated from AAVS1 gene–targeted human keratinocytes