452 research outputs found
DNA Copy Number Variation in Autism
Autism is a childhood neurodevelopmental and psychiatric disorder that involves the impairment of social skills and communication. The genetics behind the inheritance and susceptibility of this disorder are not well known but have recently been studied. Lately, DNA Copy number variation (CNV) in autistic individuals has been a topic of high interest, and has been shown to have an association with this disorder. CNV generally refers to differences in the germ line DNA content between individuals. CNVs span from 1-kb to multi-megabases, and represent a significant portion of genetic variation in normal humans. Significant work has been done in the field of Autism Spectrum Disorder (ASD) genetics to find CNVs implicated in the development of autism and the variation of phenotype. In order to identify new disease alterations, we are conducting CNV discovery studies on 10 autistic children and their families. We expect our findings will lead to a better understanding of pathophysiology and to new avenues of therapeutic treatment. We conducted CNV discovery in 10 autistic children using array Comparative Genome Hybridization (aCGH) on a tiling-resolution whole genome BAC microarray. This platform can detect CNVs >50-kb. From the high confidence CNV calls (based on standard deviation and signal-to-noise Ratios), we filtered out all variants that are found in 4% or more of normal individuals. We have identified over 100 high confidence candidate CNVs that have rarely or never been reported previously. In addition, we have begun to determine if any variants were created de novo in the affected child (i.e., were not inherited from parents). Some candidate de novo variants span many genes and could have functional effects. We conclude that it is worth conducting more genome-wide CNV discovery in autism, and testing suggestive CNVs for association in large numbers of autism patients.No embarg
Colon adenocarcinoma diagnosis in human samples by multicontrast nonlinear optical microscopy of hematoxylin and eosin stained histological sections
Combined multimodal nonlinear optical (NLO) microscopies were used to detect and quantify morphological changes associated with stroma and epithelial transformation in colon cancer. Our findings provide complementary information about tissue microstructure, displaying distinctive patterns between normal and malignant human colon. Additionally, we have demonstrated the usefulness of using fixed tissues for the disease diagnostic and prognostic. The present work provides a framework for using NLO techniques as a clinical diagnostic tool for human colon cancer. NLO metrics could be applied to other disorders, which are characterized by abnormal cell proliferation and collagen assembly.Fil: Adur, Javier Fernando. Universidad Nacional de Entre Ríos. Facultad de Ingeniería; Argentina. National Institute of Science and Technology on Photonics Applied to Cell Biology; Brasil. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro de Investigaciones y Transferencia de Entre Ríos. Universidad Nacional de Entre Ríos. Centro de Investigaciones y Transferencia de Entre Ríos; ArgentinaFil: Bianchi, Mariana. Universidad Nacional de Entre Ríos. Facultad de Ingeniería; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Pelegati, Vitor B.. National Institute of Science and Technology on Photonics Applied to Cell Biology; BrasilFil: Viale, Silvia. Universidad Nacional de Entre Ríos. Facultad de Ingeniería; ArgentinaFil: Izaguirre, María Fernanda. Universidad Nacional de Entre Ríos. Facultad de Ingeniería; ArgentinaFil: Carvalho, Hernandes Faustino. Universidade Estadual de Campinas; BrasilFil: Cesar, Carlos L.. Universidade Estadual de Campinas; BrasilFil: Casco, Victor Hugo. Universidad Nacional de Entre Ríos. Facultad de Ingeniería; Argentin
Innovación educativa desde el Servicio de Orientación Educativa Integral de la Escuela de Comercio “Martín Zapata"
Fil: Adur, María Cecilia.
Universidad Nacional de Cuyo. Escuela de Comercio Martín ZapataFil: Cadile, María Fernanda.
Universidad Nacional de Cuyo. Escuela de Comercio Martín ZapataFil: Leguizamón, Mónica Beatriz.
Universidad Nacional de Cuyo. Escuela de Comercio Martín ZapataFil: Soto, Silvia Gabriela.
Universidad Nacional de Cuyo. Escuela de Comercio Martín Zapat
KNOWING CRITICAL THINGKING IN TWO STRAY LEARNING MODLE
This literature study aims to identify the ways of critical thinking with the Two Stray learning model. The data of the study are obtained through collecting literature and conducting a review, collecting relevant study results from 233 articles in the last 10 years on Google Scholar. Then, the researcher compiles the results and discussions, gives conclusions and suggestions. The results of this study show that the Two Stray learning model is able to identify the student’s critical thinking ways; the students play an active role in group discussions, they are able to solve the problems such as assignments given by the teacher, improve their listening skills and critical thinking in the learning process. The students are trained to work together on tasks given by the teacher so that creates effective and fun learning
Duelos paternos. Una lectura de “Tlön, Uqbar, Orbis Tertius”
This paper introduces a reading of The Garden of Forking Paths (Borges, 1941) as part of the writer's repositioning, which can be linked to his father's death, Jorge Guillermo Borges, in February 1938. Specifically, the analysis focuses on "Tlön, Uqbar, Orbis Tertius", a story that deals with the relationship between fatherhood and (literary) creation. The story, which begins by declaring that "copulation" and "fatherhood" are "abominable", explores other ways of procreation and cross-generational transmission. In the face of the father's death, it seems to propose building a horizontal community of readers/writers who can collectively create the "Greatest Work of Men".El presente trabajo propone una lectura de El jardín de senderos que se bifurcan (Borges, 1941) como parte de un reposicionamiento del escritor que puede vincularse con la muerte de su padre, Jorge Guillermo Borges, acaecida en febrero de 1938. En particular, el análisis se detiene en “Tlön, Uqbar, Orbis Tertius”, relato que tematiza la relación entre paternidad y creación (literaria). El relato, que se abre declarando que “la cópula” y “la paternidad” son “abominables” explora otras formas de engendramiento y de transmisión intergeneracional. Ante la muerte del padre, parece proponer la construcción de una comunidad horizontal de lectores-escritores que pueden dar forma, colectivamente, a la “Obra Mayor de los Hombres”
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