La transferencia epistemológica de un modelo didáctico analógico

La línea de investigación sobre los procesos de enseñanza y aprendizaje científico basada en modelos analógicos ha adquirido relevancia en los últimos años, pero notamos que son pocos los trabajos que presentan aplicaciones en el aula para el nivel medio de enseñanza. Basándonos en el concepto de perfil epistemológico que propone Bachelard, hemos ahondado en la idea de modelo al objeto de extraer nuevas conclusiones que nos permitan no sólo redefinirla, sino también evaluar la transposición que resulta de su aplicación. En este trabajo presentamos una propuesta que permita medir la transposición didáctica que es alcanzada por la aplicación de modelos didácticos analógicos en el aula de ciencias, a la cual denominamos: transferencia epistemológica. Así, la transferencia epistemológica de un modelo didáctico analógico nos brinda una medida del perfil epistemológico que es alcanzado con su aplicación en el aula de ciencias.Palabras claves: transferencia epistemológica; perfil epistemológico; modelos; modelos didácticos analógicos.The epistemological transfer of an analogical didactic modelResearch on scientific teaching and learning processes based on analogical models has acquired a great deal of importance in the last years. However, we have realized that there are just a few papers that introduce their use in secondary school classrooms. Based on the concepts of epistemological profile proposed by Bachelard, we have dug deeply into the idea of “model”. We arrived at new conclusions that allow us not only to redefine it, but also to evaluate the transposition that comes up from its application. In this paper we introduce a proposal that allows us to measure the didactic transposition reached under the application of analogical didactic models in the science classrooms which we name epistemological transfer. Therefore, the epistemological transfer of an analogical didactic model, provides us with the degree of the epistemological profile reached under its application in science classrooms.Key words: epistemological transfer; epistemological profile; models; analogical didactic models

Evaluación de un modelo didáctico analógico para el aprendizaje de energía interna y temperatura

Las dificultades de los estudiantes para conceptualizar correctamente las leyes de la termodinámica han sido estudiadas por diferentes autores, asimismo se han detectado los errores en nociones relativas a las magnitudes involucradas. Esas dificultades parecen residir en la falta de correspondencia entre el modelo macroscópico de las leyes de la termodinámica y el modelo cinético molecular de la materia. Ambos modelos teoréticos, uno macroscópico y otro microscópico se plantean habitualmente en la clase, de modo que esta falta de conexión sería en parte proveniente de la instrucción. Consideramos que existe una continuidad entre los modelos conceptuales de los alumnos y el modelo teorético objeto del aprendizaje. En este trabajo se propone un modelo didáctico analógico para la enseñanza de los conceptos de temperatura y energía interna y se evalúa su eficiencia. Los resultados obtenidos fueron positivos mostrando una mejor utilización del modelo cinético molecular por parte de los alumnos.Palabras Clave: aprendizaje activo; estrategias de enseñanza; energía interna y temperatura; modelos.Evaluation of an analogical didactic model for the learning of internal energy and temperatureThe difficulties to correctly conceptualize thermodynamics laws have alredy been studied by different authors. Errors in notions related to the magnitudes involved have been detected. It seems that these difficulties occur due to the lack of correspondences between the microscopic model from the thermodynamics laws and the molecular kinetic model. Both theoretic models, one of then macroscopic and the other microscopic are usually discussed en class, therefore, this lack of connection would parthy come from instruction. We believe that there is a continuity betwen the conceptual model and the theoretic model to be learnt. We propose an analogical didactic model applied to establish a difference betwen the concepts of internal energy and temperature and its efficiency is evaluated. The results obtained were positive showing a better one utilizacion of the molecular kinetic model on the part of the students.Key Words: classroom active learning; internal energy and temperature; models; strategies for teaching

Aprendizaje de los conceptos de masa, peso y gravedad. Investigación de la efectividad de un modelo analógico

La línea de investigación sobre los procesos de enseñanza y aprendizaje científico basada en modelos analógicos ha adquirido relevancia, pero notamos que son pocas las aplicaciones en el aula, sobre todo en el nivel medio de enseñanza. Los modelos didácticos analógicos son una herramienta importante para la instrucción pero a condición de que el profesor y los alumnos adquieran una visión en común sobre el análogo y se describan sus limitaciones comparado con el modelo teorético. Se espera del alumno una toma de conciencia sobre sus procesos y eventos cognitivos para que pueda evaluar los progresos y resultados, comprendiendo su propia versión acerca de la naturaleza de su conocimiento y sobre el proceso de aprendizaje, es decir sobre sus esencias epistemológicas. En este trabajo se evalúa la eficiencia de un modelo didáctico analógico para la enseñanza de los conceptos de masa, peso y gravedad mediante un estudio correlacional, cuasiexperimental con posprueba y grupo control.Palabras claves: aprendizaje activo; estrategias de enseñanza; masa, peso y gravedad. Modelos analógicos.Learning the concepts of mass, weight and gravity. Investigation of the effectiveness of an analog modelThe line of investigation on the processes of education and scientific learning based on analogical models has acquired relevance, but we noticed that the applications in the classroom are few, mainly in the middle level of education. The analogical didactic models are an important tool for instruction provided that the teacher and the pupils acquire a shared vision on the analogies and their described limitations compared with the theoretical model. The learner is expected to be aware of his mental processes and cognitive operations, so that he can evaluate his own progress, including an understanding of his own learning process, that is to say, of his epistemological essences. In this work the efficiency of an analogical didactic model for the teaching of the mass, weight and gravity concepts is evaluated by means of a correlation quasi-experimental study, with postest and group control.Key words: active learning; teaching strategies; mass; weight and gravity; analogical models

An Integrated TCGA Pan-Cancer Clinical Data Resource to Drive High-Quality Survival Outcome Analytics

For a decade, The Cancer Genome Atlas (TCGA) program collected clinicopathologic annotation data along with multi-platform molecular profiles of more than 11,000 human tumors across 33 different cancer types. TCGA clinical data contain key features representing the democratized nature of the data collection process. To ensure proper use of this large clinical dataset associated with genomic features, we developed a standardized dataset named the TCGA Pan-Cancer Clinical Data Resource (TCGA-CDR), which includes four major clinical outcome endpoints. In addition to detailing major challenges and statistical limitations encountered during the effort of integrating the acquired clinical data, we present a summary that includes endpoint usage recommendations for each cancer type. These TCGA-CDR findings appear to be consistent with cancer genomics studies independent of the TCGA effort and provide opportunities for investigating cancer biology using clinical correlates at an unprecedented scale. Analysis of clinicopathologic annotations for over 11,000 cancer patients in the TCGA program leads to the generation of TCGA Clinical Data Resource, which provides recommendations of clinical outcome endpoint usage for 33 cancer types

Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing

Recognition of individuals with a genetic predisposition to gastric cancer (GC) enables preventive measures. However, the underlying cause of genetic susceptibility to gastric cancer remains largely unexplained. We performed germline whole-exome sequencing on leukocyte DNA of 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type GC to identify novel GC-predisposing candidate genes. As young age at diagnosis and familial clustering are hallmarks of genetic tumor susceptibility, we selected patients that were diagnosed below the age of 35, patients from families with two cases of GC at or below age 60 and patients from families with three GC cases at or below age 70. All included individuals were tested negative for germline CDH1 mutations before or during the study. Variants that were possibly deleterious according to in silico predictions were filtered using several independent approaches that were based on gene function and gene mutation burden in controls. Despite a rigorous search, no obvious candidate GC predisposition genes were identified. This negative result stresses the importance of future research studies in large, homogeneous cohorts

Functionally oriented analysis of cardiometabolic traits in a trans-ethnic sample

Interpretation of genetic association results is difficult because signals often lack biological context. To generate hypotheses of the functional genetic etiology of complex cardiometabolic traits, we estimated the genetically determined component of gene expression from common variants using PrediXcan (1) and determined genes with differential predicted expression by trait. PrediXcan imputes tissue-specific expression levels from genetic variation using variant-level effect on gene expression in transcriptome data. To explore the value of imputed genetically regulated gene expression (GReX) models across different ancestral populations, we evaluated imputed expression levels for predictive accuracy genome-wide in RNA sequence data in samples drawn from European-Ancestry and African-Ancestry populations and identified substantial predictive power using European-derived models in a non-European target population.We then tested the association of GReX on 15 cardiometabolic traits including blood lipid levels, body mass index, height, blood pressure, fasting glucose and insulin, RR interval, fibrinogen level, factor VII level and white blood cell and platelet counts in 15 755 individuals across three ancestry groups, resulting in 20 novel gene-phenotype associations reaching experiment-wide significance across ancestries. In addition, we identified 18 significant novel gene-phenotype associations in our ancestry-specific analyses. Top associations were assessed for additional support via query of S-PrediXcan (2) results derived from publicly available genome-wide association studies summary data. Collectively, these findings illustrate the utility of transcriptome-based imputation models for discovery of cardiometabolic effect genes in a diverse dataset

Driver Fusions and Their Implications in the Development and Treatment of Human Cancers.

Gene fusions represent an important class of somatic alterations in cancer. We systematically investigated fusions in 9,624 tumors across 33 cancer types using multiple fusion calling tools. We identified a total of 25,664 fusions, with a 63% validation rate. Integration of gene expression, copy number, and fusion annotation data revealed that fusions involving oncogenes tend to exhibit increased expression, whereas fusions involving tumor suppressors have the opposite effect. For fusions involving kinases, we found 1,275 with an intact kinase domain, the proportion of which varied significantly across cancer types. Our study suggests that fusions drive the development of 16.5% of cancer cases and function as the sole driver in more than 1% of them. Finally, we identified druggable fusions involving genes such as TMPRSS2, RET, FGFR3, ALK, and ESR1 in 6.0% of cases, and we predicted immunogenic peptides, suggesting that fusions may provide leads for targeted drug and immune therapy

Risk profiles and one-year outcomes of patients with newly diagnosed atrial fibrillation in India: Insights from the GARFIELD-AF Registry.

BACKGROUND: The Global Anticoagulant Registry in the FIELD-Atrial Fibrillation (GARFIELD-AF) is an ongoing prospective noninterventional registry, which is providing important information on the baseline characteristics, treatment patterns, and 1-year outcomes in patients with newly diagnosed non-valvular atrial fibrillation (NVAF). This report describes data from Indian patients recruited in this registry. METHODS AND RESULTS: A total of 52,014 patients with newly diagnosed AF were enrolled globally; of these, 1388 patients were recruited from 26 sites within India (2012-2016). In India, the mean age was 65.8 years at diagnosis of NVAF. Hypertension was the most prevalent risk factor for AF, present in 68.5% of patients from India and in 76.3% of patients globally (P < 0.001). Diabetes and coronary artery disease (CAD) were prevalent in 36.2% and 28.1% of patients as compared with global prevalence of 22.2% and 21.6%, respectively (P < 0.001 for both). Antiplatelet therapy was the most common antithrombotic treatment in India. With increasing stroke risk, however, patients were more likely to receive oral anticoagulant therapy [mainly vitamin K antagonist (VKA)], but average international normalized ratio (INR) was lower among Indian patients [median INR value 1.6 (interquartile range {IQR}: 1.3-2.3) versus 2.3 (IQR 1.8-2.8) (P < 0.001)]. Compared with other countries, patients from India had markedly higher rates of all-cause mortality [7.68 per 100 person-years (95% confidence interval 6.32-9.35) vs 4.34 (4.16-4.53), P < 0.0001], while rates of stroke/systemic embolism and major bleeding were lower after 1 year of follow-up. CONCLUSION: Compared to previously published registries from India, the GARFIELD-AF registry describes clinical profiles and outcomes in Indian patients with AF of a different etiology. The registry data show that compared to the rest of the world, Indian AF patients are younger in age and have more diabetes and CAD. Patients with a higher stroke risk are more likely to receive anticoagulation therapy with VKA but are underdosed compared with the global average in the GARFIELD-AF. CLINICAL TRIAL REGISTRATION-URL: http://www.clinicaltrials.gov. Unique identifier: NCT01090362