A large repertoire of nanocarrier (NC) technologies exists, each with highly specified advantages in terms of targetability, stability, and immunological inertness. The characterization of such NC ...properties within physiological conditions is essential for the development of optimized drug delivery systems. One method that is well established for reducing premature elimination by avoiding protein adsorption on NCs is surface functionalization with poly(ethylene glycol) (PEG), aptly called PEGylation. However, recent studies revealed that some PEGylated NCs have a delayed immune response, indicating the occurrence of protein-NC interactions. Obvious protein-NC interactions, especially in micellar systems, may have been overlooked as many early studies relied on techniques less sensitive to molecular level interactions. More sensitive techniques have been developed, but a major challenge is the direct measurement of interactions, which must be done in situ, as micelle assemblies are dynamic. Here, we report the use of pulsed-interleaved excitation fluorescence cross-correlation spectroscopy (PIE-FCCS) to interrogate the interactions between two PEG-based micelle models and serum albumin protein to compare protein adsorption differences based on linear or cyclic PEG architectures. First, by measuring micelle diffusion in isolated and mixed solutions, we confirmed the thermal stability of diblock and triblock copolymer micelle assemblies. Further, we measured the co-diffusion of micelles and serum proteins, the magnitudes of which increased with concentration and continued incubation. The results demonstrate that PIE-FCCS is capable of measuring direct interactions between fluorescently labeled NC and serum proteins, even at concentrations 500 times lower than those observed physiologically. This capability showcases the potential utility of PIE-FCCS in the characterization of drug delivery systems in biomimetic conditions.
Objective:
Charcot‐Marie‐Tooth (CMT) disease comprises a large number of genetically distinct forms of inherited peripheral neuropathies. The relative uniform phenotypes in many patients with CMT ...make it difficult to decide which of the over 35 known CMT genes are affected in a given patient. Genetic testing decision trees are therefore broadly based on a small number of major subtypes (eg, CMT1, CMT2) and the observed mutation frequency for CMT genes. Since conventional genetic testing is expensive many rare genes are not being tested for at all.
Methods:
Whole‐exome sequencing has recently been introduced as a novel and alternative approach. This method is capable of resequencing a nearly complete set of coding exons in an individual. We performed whole‐exome sequencing in an undiagnosed family with CMT.
Results:
Within over 24,000 variants detected in 2 exomes of a CMT family, we identified a nonsynonymous GJB1 (Cx32) mutation. This variant had been reported previously as pathogenic in X‐linked CMT families. Sanger sequencing confirmed complete cosegregation in the family. Affected individuals had a marked early involvement of the upper distal extremities and displayed a mild reduction of nerve conduction velocities.
Interpretation:
We have shown for the first time in a genetically highly heterogeneous dominant disease that exome sequencing is a valuable method for comprehensive medical diagnosis. Further improvements of exon capture design, next‐generation sequencing accuracy, and a constant price decline will soon lead to the adoption of genomic approaches in gene testing of Mendelian disease. Ann Neurol 2011;
Hereditary spastic paraplegias (HSPs) are a group of genetically heterogeneous neurodegenerative conditions. They are characterized by progressive spastic paralysis of the legs as a result of ...selective, length-dependent degeneration of the axons of the corticospinal tract. Mutations in 3 genes encoding proteins that work together to shape the ER into sheets and tubules - receptor accessory protein 1 (REEP1), atlastin-1 (ATL1), and spastin (SPAST) - have been found to underlie many cases of HSP in Northern Europe and North America. Applying Sanger and exome sequencing, we have now identified 3 mutations in reticulon 2 (RTN2), which encodes a member of the reticulon family of prototypic ER-shaping proteins, in families with spastic paraplegia 12 (SPG12). These autosomal dominant mutations included a complete deletion of RTN2 and a frameshift mutation predicted to produce a highly truncated protein. Wild-type reticulon 2, but not the truncated protein potentially encoded by the frameshift allele, localized to the ER. RTN2 interacted with spastin, and this interaction required a hydrophobic region in spastin that is involved in ER localization and that is predicted to form a curvature-inducing/sensing hairpin loop domain. Our results directly implicate a reticulon protein in axonopathy, show that this protein participates in a network of interactions among HSP proteins involved in ER shaping, and further support the hypothesis that abnormal ER morphogenesis is a pathogenic mechanism in HSP.
Hereditary peripheral neuropathies present a group of clinically and genetically heterogeneous entities. All known forms, including the various forms of Charcot-Marie-Tooth disease (CMT) are ...characterized as Mendelian traits and over 35 genes have been identified thus far. The mutational mechanism of the most common CMT type, CMT1A, is a 1.5 Mb chromosomal duplication at 17p12 that contains the gene
PMP22
. Only recently it has been realized that such copy number variants (CNV) are a widespread phenomenon and important for disease. However, it is not known whether CNVs play a wider role in hereditary peripheral neuropathies outside of CMT1A. In a phenotypically heterogeneous sample of 97 patients, we performed the first high-density CNV study of 34 genomic regions harboring known genes for hereditary peripheral neuropathies including the 17p12 duplication region, with comparative genomic hybridization (CGH) microarrays. We identified three CNVs that affected coding exons. A novel shorter form of a
PMP22
duplication was detected in a CMT1A family previously tested negative in a commercial test. Two other CNVs in
MTMR2
and
ARHGEF10
are likely not disease associated. Our results indicate that CNVs are a rare cause for non-CMT1A CMT. Their potential relevance as disease modifiers remains to be evaluated. The present study design cannot rule out that specific CMT forms exist where CNVs play a larger role.
Fecha de recepción: 16 de octubre de 2018Fecha de revisión: 12 de febrero de 2019Fecha de aprobación: 13 de marzo de 2019
La investigación se propuso analizar las relaciones que se establece entre ...docencia e investigación en cuatro programas académicos (dos de pregrado y dos de posgrado), con el fin de comprender su incidencia en la calidad de la educación y la formación de nuevos profesionales. El primer objetivo estuvo orientado a identificar los ámbitos de relación conceptual y metodológica sobre bucle investigación-docencia, precisados en las políticas nacionales e institucionales -Pontificia Universidad Javeriana y Universidad Mariana-; el segundo indagó las concepciones y prácticas de los docentes respecto a la relación investigación-docencia y sus implicaciones en la formación de los profesionales; el tercero buscó reconocer la relación entre investigación y docencia en las propuestas curriculares de los programas, objeto de estudio; y el cuarto se encaminó a establecer pautas pedagógicas que posibiliten el fortalecimiento de la relación entre investigación y docencia en la universidad.
El proceso investigativo se desarrolló dentro del campo de la investigación educativa y, asumió la metodología cualitativa-interpretativa como soporte y fundamento epistémico; como método de análisis se recurrió al estudio de caso, el cual ha sido desplegado en dos fases: simple y compuesta. En términos generales, la investigación logró precisar que la relación entre investigación y docencia sigue anclada en los discursos académicos y en los documentos teleológicos, alejada de la praxis educativa. Entre otras cosas se pudo apreciar el vacío epistémico y metodológico requerido para concretar la relación investigación y docencia.
Palabras clave: investigación, docencia, calidad educativa, formación profesional.
The research-teaching relationship and its impact on educational quality
The research aimed to analyze the relationships established between teaching and research in four academic programs (two undergraduate and two postgraduate), in order to understand the impact of this relationship on the quality of education and the training of new professionals. The first objective was directed at identifying the areas of conceptual and methodological relationship, about the research-teaching loop, defined in national and institutional policies -Pontificia Universidad Javeriana and Universidad Mariana-; the second, investigated the conceptions and practices of teachers regarding the relation between research and teaching and its implications in the training of professionals; the third, sought to recognize the relationship between research and teaching in the curricular proposals of the programs, object of study; and the fourth, was aimed at establishing pedagogical guidelines that enable the strengthening of the relationship between research and teaching in the university.
The research process was developed within the field of educational research and assumed the qualitative-interpretative methodology as support and epistemic foundation. As a method of analysis, the case study was used, which has been deployed in two phases: simple and composite. In general terms, the research managed to specify that the relationship between research and teaching remains anchored in academic discourses and teleological documents and far from educational praxis. Among other things, it was possible to appreciate the epistemic and methodological vacuum required to concretize the research and teaching relationship.
Key words: research, teaching, educational quality, professional training.
A relação pesquisa-ensino e seu impacto na qualidade da educação
A pesquisa teve como objetivo, analisar as relações estabelecidas entre ensino e pesquisa em quatro programas acadêmicos (dois de graduação e dois de pós-graduação), a fim de compreender o impacto dessa relação na qualidade da educação e formação de novos profissionais. O primeiro objetivo foi direcionado à identificar as áreas de relação conceitual e metodológica, sobre o ciclo de pesquisa-ensino, definido nas políticas nacionais e institucionais -Pontifícia Universidade Javeriana e Universidade Mariana-; o segundo, investigou as concepções e práticas dos professores sobre a relação entre pesquisa e ensino e suas implicações na formação de profissionais; a terceira, buscou reconhecer a relação entre pesquisa e ensino nas propostas curriculares dos programas, objeto de estudo; e o quarto, teve como objetivo, estabelecer diretrizes pedagógicas que possibilitassem o fortalecimento da relação entre pesquisa e ensino na universidade.
O processo de pesquisa foi desenvolvido no campo da pesquisa educacional e assumiu a metodologia qualitativo-interpretativa como suporte e fundamentação epistêmica. Como método de análise, foi utilizado o estudo de caso, implantado em duas fases: simples e compostas. De um modo geral, a pesquisa conseguiu esclarecer que a relação entre pesquisa e ensino ainda está ancorada em discursos acadêmicos e documentos teleológicos, longe da prática educativa. Entre outras coisas, foi possível apreciar o vácuo epistêmico e metodológico necessário para concretizar a relação de pesquisa e ensino.
Palavras-chave: pesquisa, ensino, qualidade educacional, formação profissional.
.
McCorquodale DS III, Ozomaro U, Huang J, Montenegro G, Kushman A, Citrigno L, Price J, Speziani F, Pericak‐Vance MA, Züchner S. Mutation screening of spastin, atlastin, and REEP1 in hereditary ...spastic paraplegia.
Hereditary spastic paraplegia (HSP) comprises a group of clinically and genetically heterogeneous diseases that affect the upper motor neurons and their axonal projections. Over 40 chromosomal loci have been identified for autosomal dominant, recessive, and X‐linked HSP. Mutations in the genes atlastin, spastin and REEP1 are estimated to account for up to 50% of autosomal‐dominant HSP and currently guide the molecular diagnosis of HSP. Here, we report the mutation screening results of 120 HSP patients from North America for spastin, atlastin, and REEP1, with the latter one partially reported previously. We identified mutations in 36.7% of all tested HSP patients and describe 20 novel changes in spastin and atlastin. Our results add to a growing number of HSP disease‐associated variants and confirm the high prevalence of atlastin, spastin, and REEP1 mutations in the HSP patient population.
Charcot-Marie-Tooth (CMT) disease is among the most common inherited neurological disorders. Mutations in the gene
mitofusin 2
(
MFN2
) cause the axonal subtype CMT2A, which has also been shown to be ...associated with optic atrophy, clinical signs of first motor neuron involvement, and early onset stroke. Mutations in
MFN2
account for up to 20–30% of all axonal CMT type 2 cases. To further investigate the prevalence of
MFN2
mutations and to add to the genotypic spectrum, we sequenced all exons of
MFN2
in a cohort of 39 CMT2 patients
.
We identified seven variants, four of which are novel. One previously described change was co-inherited with a PMP22 duplication, which itself causes the demyelinating form CMT1A. Another mutation was a novel in frame deletion, which is a rare occurrence in the genotypic spectrum of
MFN2
characterized mainly by missense mutations. Our results confirm a
MFN2
mutation rate of ~15–20% in CMT2.
El presente artículo, resultado de la revisión documental, correspondiente a la primera etapa de la investigación denominada: Relaciones entre investigación y docencia y su incidencia en la calidad ...educativa y formación de nuevos profesionales, busca explorar las posibles conexiones, tensiones e incidencias de esta relación en la formación de nuevos profesionales; en este sentido, se propone ahondar en la cosmovisión de los autores, y las intencionalidades pedagógicas y políticas universitarias respecto a este tema; así mismo, sustraer destacadas orientaciones básicas para procurar y superar las posibles tensiones en torno a dicha relación. El propósito último de esta disertación es llevar a la mesa académica un tema que muchas veces se da por hecho y se cree marcha tremendamente bien, pero que visto desde la praxis educativa puede tener otros matices que se podrían traducir en meros ideales, los cuales no han encontrado, o al menos no suficientemente, los causes que los concreticen en la práctica. Referencias Aguerrondo, I. (2004). Los desafíos de la política educativa relativos a las reformas de la formación docente. En: AAVV. Maestros en América latina: Nuevas perspectivas sobre su formación y desempeño. Santiago de Chile: PREAL – CINDE. Allendes, J. (2005). Programa remedial de matemáticas. La experiencia del instituto profesional Duoc-UC. Revista Calidad en la Educación, 23, 2, 85-101. Barnett, R. (1992). Linking teaching and research. Journal of Higher Education, 63, 619-636. Berardi, L., Capocasale, A., y García, S. (2009). La profesión docente en el marco de un nuevo patrón de desarrollo. Educarnos. Uruguay, Montevideo: Imprimex. Biggs, J. (1999). Teaching for quality learning at university. Buckingham: Society for Research into Higher Education and Open University Press. Biggs, J. (1987). Student approaches to learning and studying. Melbourne: Australian Council for Educational Research. Biggs, J. y Tang, C. (2007) Teaching for Quality Learning at University (3rd. edn.). Buckingham: SRHE and Open University Press. Blázquez, P., Casse, J., Díaz, F., Escudero, J., Martínez, A., Peña, F. y Sánchez, G. (2010). Modelo para autoevaluar la práctica docente. Madrid: Grefol, S.L. De Tezanos, A. (2006). El maestro y su formación: tras las huellas y los imaginarios. Bogotá: Magisterio. Elliott, J. (1993). El cambio educativo desde la investigación-acción. Madrid: Morata. Elton, L. (1992). University teaching: a professional model for quality and excellence. Ponencia en la conferencia Quality by Degrees, efectuada en Aston University. Entwistle, N. (2007). Research into student learning and university teaching. BJEP Monograph Series II, Number 4 - Student Learning and University Teaching, 1, 1-18. Feldman, K. (1987). Research productivity and scholarly accomplishment of college teachers as related to their instructional effectiveness: A review and exploration. Research in Higher Education, 26, 227-298. Fullan, M. (2002). Las fuerzas del cambio. Explorando las profundidades de la reforma educativa. Madrid: Akal. García, S., Maldonado, D., Perry, G., Rodríguez, C., y Saavedra, J. (2014). Tras la excelencia docente. Cómo mejorar la calidad de la educación para todos los colombianos. Bogotá: Panamericana Formas e Impresos S.A. Gimeno, J. (1991). El currículo: una reflexión sobre la práctica. Madrid: Morata. Giroux, H. (1997). Los profesores como intelectuales: hacia una pedagogía crítica del aprendizaje. Madrid: Paidós. González, C. (2010). Investigación sobre el aprendizaje y conocimiento académico sobre la enseñanza como claves para mejorar la docencia universitaria. Revista Calidad en la Educación, 33, 126-143. González, C. (2011). Extending research on ‘conceptions of teaching’: commonalities and differences in recent investigations. Teaching in Higher Education, 16 (1), 65-80. Harry, J. y Goldner, N. (1972). The null relationship between teaching and research. Sociology of Education, 45, 47-60. Hattie, J. y Marsh, H. (1996). The relationship between research and teaching: a meta-analysis. Review of Educational Research, 66, 507-542. Hernández, F. (2002). Docencia e investigación en educación superior. Revista de Investigación Educativa RIE, 20(2), 271-30.1 Hilarraza, Y. (2012). La investigación pedagógica: un aporte a la gestión de la formación docente desde un punto de vista socio cultural. Revista Didasc@lia: didáctica y educación, 3(1), 25-39. Jauch, L. (1976). Relationships of research and teaching: Implications for faculty evaluation. Research in Higher Education, 5, 1-13. Kemmis, S. y Mctaggart, R. (1988). Cómo planificar la investigación-acción. Barcelona: Laertes. Latorre, A. (2003). La investigación-acción: conocer y cambiar la práctica educativa. Barcelona: Graó. Lerena, C. (1987), Educación y Sociología. Madrid: Akal. Lewin, R. (1992). Complejidad. El caos como generador del orden. Barcelona: Tusquets. Martínez, E. y Vargas, M. (2002). La investigación sobre la educación superior en Colombia. Un estado del arte. Bogotá: Icfes. Marton, F. (1981). “On Qualitative Differences in Learning — 2: Outcome as a function of the learner’s conception of the task”. Brit. J. Educ. Psych., 46, 115-27. Molina, M. (2010). El vínculo docencia – investigación: Una respuesta a la necesidad de pensamiento crítico en México. Revista cultura digital y vida cotidiana en Iberoamérica, (73), 35-52. Mooney, C. (1991). Professors feel conflict between roles in teaching and research, say students are badly prepared. Chronicle of Higher Education, 15-17. Morán, P. (2003). El reto pedagógico de vincular la docencia y la investigación en el espacio del aula. Revista Contaduría y Administración, 211, 17-30. NcCullagh, R. y Roy, M. (1975). The contribution of noninstructional activities to college classroom teacher effectiveness. Journal of Experimental Education, 44, 61-70. Neumann, R. (1992). Perception of the teaching-research nexus: A framework for analysis. Higher Education, 23, 159-171. Orler, J. (2012). Docencia-Investigación: ¿una relación antagónica, inexistente o necesaria? Academia, (10), 289-301. Pérez, T. y Vives, M. (2013). Docencia e Investigación: una reflexión sobre sus especificidades y su requerimiento para su doble desempeño. Boletín Redipe, (821), 8-15. Pirela, L. y Prieto, L. (2006). Perfil de competencias del docente en la función de investigador y su relación con la productividad intelectual. Revista Opción, 22(50), 159-177. Ramsden, P. y Moses, I. (1992). Association between research and teaching in Australian Higher Education. Higher Education, 23, 273-295. Rowland, C., Stillman, R. & Mar, H. (2010). Current Assessment Practices for Young Children who are Deafblind. AER Journal, 3(3), 63-70. Ruiz, A. y Rojas, R. (1997). Vínculo docencia-investigación para una formación. Plaza y Valdes. Rushton, J., Murray, H. & Paunonen, S. (1983). “Personality, Research Creativity, and Teaching Effectiveness in University Professors”. Scientometrics, 5(2), 93-116. Sancho, J. (2001). Docencia e investigación en la universidad: una profesión, dos mundos. Educar, 28, 41-60. Schön, D. (1991). El profesional reflexivo. ¿cómo piensan los profesionales cuando actúan. Buenos Aires: Paidós. Senge, P., Cambron, N., Lucas, T., Smith, B., Dutton, J. & Kleiner, A. (2000). Schools That Learn - A Fifth Discipline Fieldbook for Educators, Parents, and Everyone Who Cares About education. New York: Doubleday/Currency. Solar, M. y Díaz, C. (2009). El profesor universitario: construcción de su saber pedagógico e identidad profesional a partir de sus cogniciones y creencias. Revista Calidad en la Educación, 30, 207-232. Stenhouse, L. (1975). An Introduction to Curriculum Research and Development. London: Heinemann. _____. (1998). La investigación como base de la enseñanza. Traducción: J. Rudduck y D. Hopkins. Madrid: Morata. Torre, J. & Gil, E. (2004). Hacia una enseñanza universitaria centrada en el aprendizaje: libro homenaje Pedro Morales Vallejo. Madrid: Comillas. Trigwell, K. y Shale, S. (2004) Student learning and the scholarship of university teaching. Studies in Higher Education, 29(4), 523-536. Trigwell, K., Prosser, M. & Waterhouse, F. (1999). Relations between teachers’ approaches to teaching and students’ approaches to learning. Higher Education, 37, 57–70. Vaillant, D. (2005). Formación de docentes en América Latina. Re-inventando el modelo tradicional. Barcelona: Octaedro. Vásquez, F. (2008). Educar con maestría. Bogotá: Unisalle. Vélez, I. y Dávila, R. (1984). De la investigación universitaria en Colombia. Educación Superior y Desarrollo, 3(1), 48-54. Weber, M. (1959). La ciencia como profesión vocacional. La idea de la universidad en Alemania. Buenos Aires: Panamericana. Zuluaga, O., Echeverri, J., Martínez, A., Restrepo, S. y Quiceno, H. (1988). Educación y pedagogía una diferencia necesaria. Revista Educación y Cultura, (14), 4-9.
Dentro del ámbito pedagógico, uno de los problemas de mayor connotación y relevancia lo constituye la violencia escolar, la cual evidencia en los últimos tiempos una dinámica de recrudecimiento que ...impacta no solo a quienes hacen parte de ella, sino a la estructura de la institución educativa y a la sociedad en general.De esta manera, el artículo que se presenta a continuación recoge las principales reflexiones de orden teórico – conceptual desde la pedagogía acerca del conflicto como dinámica social y su rol dentro de la escuela, la violencia escolar, sus causas, manifestaciones, actores y consecuencias, así como la resolución pacífica del conflicto en la escuela y la mediación escolar.
PDF
