Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

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CIBERER : Spanish national network for research on rare diseases: A highly productive collaborative initiative

Altres ajuts: Instituto de Salud Carlos III (ISCIII); Ministerio de Ciencia e Innovación.CIBER (Center for Biomedical Network Research; Centro de Investigación Biomédica En Red) is a public national consortium created in 2006 under the umbrella of the Spanish National Institute of Health Carlos III (ISCIII). This innovative research structure comprises 11 different specific areas dedicated to the main public health priorities in the National Health System. CIBERER, the thematic area of CIBER focused on rare diseases (RDs) currently consists of 75 research groups belonging to universities, research centers, and hospitals of the entire country. CIBERER's mission is to be a center prioritizing and favoring collaboration and cooperation between biomedical and clinical research groups, with special emphasis on the aspects of genetic, molecular, biochemical, and cellular research of RDs. This research is the basis for providing new tools for the diagnosis and therapy of low-prevalence diseases, in line with the International Rare Diseases Research Consortium (IRDiRC) objectives, thus favoring translational research between the scientific environment of the laboratory and the clinical setting of health centers. In this article, we intend to review CIBERER's 15-year journey and summarize the main results obtained in terms of internationalization, scientific production, contributions toward the discovery of new therapies and novel genes associated to diseases, cooperation with patients' associations and many other topics related to RD research

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Purpose: Neurofibromatosis type 1 (NF1) is characterized by a highly variable clinical presentation, but almost all NF1-affected adults present with cutaneous and/or subcutaneous neurofibromas. Exceptions are individuals heterozygous for the NF1 in-frame deletion, c.2970_2972del (p.Met992del), associated with a mild phenotype without any externally visible tumors. Methods: A total of 135 individuals from 103 unrelated families, all carrying the constitutional NF1 p.Met992del pathogenic variant and clinically assessed using the same standardized phenotypic checklist form, were included in this study. Results: None of the individuals had externally visible plexiform or histopathologically confirmed cutaneous or subcutaneous neurofibromas. We did not identify any complications, such as symptomatic optic pathway gliomas (OPGs) or symptomatic spinal neurofibromas; however, 4.8% of individuals had nonoptic brain tumors, mostly low-grade and asymptomatic, and 38.8% had cognitive impairment/learning disabilities. In an individual with the NF1 constitutional c.2970_2972del and three astrocytomas, we provided proof that all were NF1-associated tumors given loss of heterozygosity at three intragenic NF1 microsatellite markers and c.2970_297

Scientific practices in teacher education: The interplay of sense, sensors, and emotions

Background: In response to reform recommendations calling for students' engagement in scientific practices and the lack of the enactment of such practices in science classrooms, we explored the implementation of scientific practices with special emphasis on model-based inquiry in a secondary science teacher preparation program. Sample: The participants of this study were 26 preservice secondary teachers who engaged in a specially designed sequence that emphasized scientific practices. Purpose: Our aim in this study was to examine the impact of this specially-designed sequence on the participants' views about the usefulness of scientific practices as a pedagogical approach, their intentions in implementing scientific practices as future teachers, and the nature of the emotions they experienced throughout their engagement in the sequence. Design and methods: Data were collected through a questionnaire, which the participants completed following their participation in the sequence. Results: The statistical analysis of the data showed that the majority of the participants: (a) perceived that they developed adequate understandings about scientific practices; (b) stated that they would implement scientific practices in their future teaching practices; and, (c) experienced positive emotions throughout their engagement in the sequence. Conclusion: These findings are discussed alongside implications for teacher preparation and future research in the area of scientific practices and emotions

In vitro analysis of the factors contributing to the antiviral state induced by a plasmid encoding the viral haemorrhagic septicaemia virus glycoprotein G in transfected trout cells

We have found out that transfection of the RTG-2 cell line with the viral haemorrhagic septicaemia virus (VHSV) glycoprotein G (GVHSV)-coding plasmid induces an anti-VHSV state, similar to that induced by poly I:C. Taking the advantage of the constitutive expression of toll-like receptor 9 gene (tlr9) in RTG-2 cells, we have investigated whether this antiviral state was induced by the cytosine-phosphodiester-guanine (CpG) motifs present in the plasmid DNA, by the endogenous expression of GVHSV protein or by both elements. For that, we have analysed the expression profile of the rainbow trout tlr9 and several genes related to TLR9-mediated immune response in the absence or presence of a lysosomotropic drug that specifically blocks TLR9–CpG DNA interaction. The results suggested that the high levels of cell protection conferred by a plasmid encoding GVHSV gene are due to GVHSV rather than to the CpG motifs within plasmid DNA. Therefore, plasmid DNA might not play a key role in the immune response elicited by DNA vaccines or perhaps other receptors instead TLR9 could be implicated in CpG motifs recognition and signalling. In addition, since RTG-2 cells express tlr9 gene, this cell line could be a good tool for screening TLR9 agonists, such as the immunomodulatory oligonucleotides (IMOs), as fish DNA vaccine adjuvants

Matematica Basica (Arq)-MA101-200901

Resultado de la experiencia en el desarrollo de los cursos de la especialidad que siguen los estudiantes de Arquitectura se confirma la necesidad de contar con una base sólida en los conceptos básicos de Matemáticas y sus aplicaciones. Estos conocimientos previos buscan apoyar tanto el trabajo más especializado que se desarrolla en la Facultad como fortalecer el criterio profesional que tenemos que formar paulatinamente en nuestros egresados.Un aspecto importante es el desarrollo del curso por competencias en este sentido el alumno encontrará que se hace énfasis no sólo en los aspectos relativos a la información sino también en aspectos como el desarrollo de las habilidades y las actitudes frente a los temas tratados. Con la finalidad de proporcionar al estudiante una formación integral en el presente curso el alumno desarrollará aplicaciones que propicien la investigación relacionada directamente con Arquitectur

Matematica Basica (Arq)-MA101-200901

Resultado de la experiencia en el desarrollo de los cursos de la especialidad que siguen los estudiantes de Arquitectura se confirma la necesidad de contar con una base sólida en los conceptos básicos de Matemáticas y sus aplicaciones. Estos conocimientos previos buscan apoyar tanto el trabajo más especializado que se desarrolla en la Facultad como fortalecer el criterio profesional que tenemos que formar paulatinamente en nuestros egresados.Un aspecto importante es el desarrollo del curso por competencias en este sentido el alumno encontrará que se hace énfasis no sólo en los aspectos relativos a la información sino también en aspectos como el desarrollo de las habilidades y las actitudes frente a los temas tratados. Con la finalidad de proporcionar al estudiante una formación integral en el presente curso el alumno desarrollará aplicaciones que propicien la investigación relacionada directamente con Arquitectur