La perspectiva filosófica de un concepto: una analogía de Bachelard

Es nuestra intención en este trabajo, construir las imágenes analógicas que implícitamente están bocetadas en "La filosofía del no" de Bachelard, tratando de mostrar a un Bachelard analógico al momento de exponer sus ideas, mostrándonos como la ciencia misma ha recurrido a imágenes que al destruirlas condujeron al pensamiento científico a descubrir sus leyes orgánicas. Así vemos como Bachelard si bien marca una ruptura entre las imágenes, metáforas y analogías de la experiencia cotidiana, nos muestra la necesidad de recurrir a ellas por parte de la ciencia, la cuál crea formas realistas y racionales de sus objetos que le otorgan una razón polémica. La historia de la imaginería científica conforma un plan estratégico pedagógico ineluctable para el crecimiento científico (Bachelard, 2003:115)

Genome-wide structural variant analysis identifies risk loci for non-Alzheimer’s dementias

We characterized the role of structural variants, a largely unexplored type of genetic variation, in two non-Alzheimer’s dementias, namely Lewy body dementia (LBD) and frontotemporal dementia (FTD)/amyotrophic lateral sclerosis (ALS). To do this, we applied an advanced structural variant calling pipeline (GATK-SV) to short-read whole-genome sequence data from 5,213 European-ancestry cases and 4,132 controls. We discovered, replicated, and validated a deletion in TPCN1 as a novel risk locus for LBD and detected the known structural variants at the C9orf72 and MAPT loci as associated with FTD/ALS. We also identified rare pathogenic structural variants in both LBD and FTD/ALS. Finally, we assembled a catalog of structural variants that can be mined for new insights into the pathogenesis of these understudied forms of dementia

Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

The genetic basis of Lewy body dementia (LBD) is not well understood. Here, we performed whole-genome sequencing in large cohorts of LBD cases and neurologically healthy controls to study the genetic architecture of this understudied form of dementia, and to generate a resource for the scientific community. Genome-wide association analysis identified five independent risk loci, whereas genome-wide gene-aggregation tests implicated mutations in the gene GBA. Genetic risk scores demonstrate that LBD shares risk profiles and pathways with Alzheimer's disease and Parkinson's disease, providing a deeper molecular understanding of the complex genetic architecture of this age-related neurodegenerative condition

Aproximación didáctica a la termodinámica con modelos y literatura de ciencia ficción

Energy transformations teaching at secondary school, generally relate to conservation and transference. Moreover, the subject related to the dispersal of energy receives no special attention. There is a general consensus that entropy is one of the more difficult concepts. So we made an investigation with students from the last year of the secondary school who described their studies using the hypothesis of making it easier to understand these concepts if teaching is complemented with science fiction language with an analogical basis. Stories of "hard" science fiction provide a convenient tool for teaching thermodynamics at two levels: the phenomenological and the microscopic-statistical descriptions. So we prove their function as an analogical and didactical model because of their abstract concepts and their provision of an intelligible situation for students and the shared structural isomorphism with the theoretical model.El estudio de la energía y sus transformaciones en el nivel educativo medio se circunscribe en general a aspectos relacionados con su conservación y transferencia. La degradación de la energía recibe escasa atención y el concepto de entropía es considerado misterioso y difícil de comprender. Realizamos una investigación descriptiva, con la hipótesis de que se facilitará la compresión de los conceptos si complementamos la instrucción con figuras del lenguaje de ciencia ficción, que son básicamente analógicas. Encontramos en dos cuentos de "buena" ciencia ficción la posibilidad de abordar el estudio de la termodinámica en dos niveles explicativos, el fenomenológico y el de los aspectos microscópicos y estadísticos de la materia. Comprobamos su función como modelo didáctico analógico ya que abstrae los conceptos y relaciones mediante una situación inteligible para el estudiante y comparte un isomorfismo estructural con el modelo teórico

Persistencia de los modelos causales. Factores contextuales en la 3rª Ley de Newton

La metáfora de las acciones humanas, intención, esfuerzo y "razón suficiente", serían una condición intuitiva para comprender los fenómenos a través de relaciones causales. Estos razonamientos son muy fuertes y persistentes, aún después de la instrucción. En este trabajo analizaremos la estructura causal de los modelos conceptuales referidos a la 3ra Ley de Newton. La caracterización de las zonas del perfil conceptual de los estudiantes la realizamos utilizando en diversos niveles educativos y cursos, con algunas modificaciones, las encuestas elaboradas en un trabajo de L. Bao, K. Hogg y D. Zollmann (2002). Describiremos los perfiles conceptuales de los alumnos, los que incluyen principalmente a sus modelos conceptuales causales. Creemos que los obstáculos epistemológicos de los alumnos pueden ser superados con una adecuada instrucción por parte del profesor. Proponemos estrategias que representen un cambio desde sus modelos ingenuos causales hacia la aplicación correcta de las Leyes de Newton

Alambique : didáctica de las ciencias experimentales

Resumen tomado de la publicaciónLos modelos didácticos analógicos permiten crear una representación de un modelo científico. Abarcan distintos conceptos, que operan según entes sustitutos mediante la utilización de recursos didácticos que los sustentan: analogías, metáforas, imágenes, etc. De esta forma se convierten en un instrumento que permite abordar un fenómeno físico de una manera más simple, logrando despertar el interés de los alumnos y motivándolos así al aprendizaje de las ciencias. Se presenta la continuación del trabajo 'Corriente eléctrica. Aplicación didáctica de una analogía' (Viau y otros, 2008), que consiste en la aplicación de un modelo didáctico basado en la utilización de recursos 'áulicos' que ayuda a comprender la forma en que opera un circuito eléctrico.CataluñaUniversidad de Valladolid. Facultad de Educación y Trabajo Social. Biblioteca; Campus Miguel Delibes. Paseo de Belén, 1; 47011 Valladolid; +34983423435; +34983423436; [email protected]

Genetic evaluation of dementia with Lewy bodies implicates distinct disease subgroups.

The APOE locus is strongly associated with risk for developing Alzheimer's disease and dementia with Lewy bodies. In particular, the role of the APOE ε4 allele as a putative driver of α-synuclein pathology is a topic of intense debate. Here, we performed a comprehensive evaluation in 2466 dementia with Lewy bodies cases versus 2928 neurologically healthy, aged controls. Using an APOE-stratified genome-wide association study approach, we found that GBA is associated with risk for dementia with Lewy bodies in patients without APOE ε4 (P = 6.58 × 10-9, OR = 3.41, 95% CI = 2.25-5.17), but not with dementia with Lewy bodies with APOE ε4 (P = 0.034, OR = 1.87, 95%, 95% CI = 1.05-3.37). We then divided 495 neuropathologically examined dementia with Lewy bodies cases into three groups based on the extent of concomitant Alzheimer's disease co-pathology: pure dementia with Lewy bodies (n = 88), dementia with Lewy bodies with intermediate Alzheimer's disease co-pathology (n = 66) and dementia with Lewy bodies with high Alzheimer's disease co-pathology (n = 341). In each group, we tested the association of the APOE ε4 against the 2928 neurologically healthy controls. Our examination found that APOE ε4 was associated with dementia with Lewy bodies + Alzheimer's disease (P = 1.29 × 10-32, OR = 4.25, 95% CI = 3.35-5.39) and dementia with Lewy bodies + intermediate Alzheimer's disease (P = 0.0011, OR = 2.31, 95% CI = 1.40-3.83), but not with pure dementia with Lewy bodies (P = 0.31, OR = 0.75, 95% CI = 0.43-1.30). In conclusion, although deep clinical data were not available for these samples, our findings do not support the notion that APOE ε4 is an independent driver of α-synuclein pathology in pure dementia with Lewy bodies, but rather implicate GBA as the main risk gene for the pure dementia with Lewy bodies subgroup

Association of cardiovascular disease management drugs with Lewy body dementia: a case-control study

peer reviewedLewy body dementia is the second most common neurodegenerative dementia after Alzheimer’s disease. Disease-modifying therapies for this disabling neuropsychiatric condition are critically needed. To identify drugs associated with risk of developing Lewy body dementia, we performed a population-based case-control study of 148,170 United States Medicare participants diagnosed with Lewy body dementia between January 1, 2008, and December 31, 2014, and 1,253,043 frequency-matched controls. We estimated odds ratios (ORs) and 95% confidence intervals (CIs) for the association of Lewy body dementia risk with 1,017 prescription drugs overall and separately for the three major racial groups (Black, Hispanic, White Americans). We identified significantly reduced Lewy body dementia risk associated with drugs used to treat cardiovascular diseases (antihypertensives: OR = 0.72, 95% CI = 0.70­–0.74, p-value = 0; cholesterol-lowering agents: OR = 0.85, 95% CI = 0.83–0.87, p-value = 0; antidiabetics: OR = 0.83, 95% CI = 0.62–0.72, p-value = 0). Notably, antidiabetic medications were associated with a larger risk reduction among Black Lewy body dementia patients compared to other racial groups (Black: OR = 0.67, 95% CI = 0.62–0.72, p-value = 0; Hispanic: OR = 0.86, 95% = 0.80–0.92, p-value = 5.16 x 10-5; White: OR = 0.85, 95% CI = 0.82–0.88, p-value = 0). To independently confirm the epidemiological findings, we looked for evidence of genetic overlap between Lewy body dementia and cardiovascular traits using whole-genome sequence data generated for 2,652 Lewy body dementia patients and 4,027 controls. Bivariate mixed modeling identified shared genetic risk between Lewy body dementia and low-density lipoprotein cholesterol levels, type 2 diabetes, and hypertension. By combining epidemiological and genomic data, we demonstrated that drugs treating cardiovascular diseases are associated with reduced Lewy body dementia risk, and these associations varied across racial groups. Future randomized clinical trials need to confirm our findings, but our data suggest that assiduous management of cardiovascular diseases may be beneficial in this understudied form of dementia.3. Good health and well-bein

Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

peer reviewedThe genetic basis of Lewy body dementia (LBD) is not well understood. Here, we performed whole-genome sequencing in large cohorts of LBD cases and neurologically healthy controls to study the genetic architecture of this understudied form of dementia, and to generate a resource for the scientific community. Genome-wide association analysis identified five independent risk loci, whereas genome-wide gene-aggregation tests implicated mutations in the gene GBA. Genetic risk scores demonstrate that LBD shares risk profiles and pathways with Alzheimer’s disease and Parkinson’s disease, providing a deeper molecular understanding of the complex genetic architecture of this age-related neurodegenerative condition