The relationship between early and intermediate level spatial vision during typical development and in autism spectrum disorder

Certaines recherches ont investigué le traitement visuel de bas et de plus hauts niveaux chez des personnes neurotypiques et chez des personnes ayant un trouble du spectre de l’autisme (TSA). Cependant, l’interaction développementale entre chacun de ces niveaux du traitement visuel n’est toujours pas bien comprise. La présente thèse a donc deux objectifs principaux. Le premier objectif (Étude 1) est d’évaluer l’interaction développementale entre l’analyse visuelle de bas niveaux et de niveaux intermédiaires à travers différentes périodes développementales (âge scolaire, adolescence et âge adulte). Le second objectif (Étude 2) est d’évaluer la relation fonctionnelle entre le traitement visuel de bas niveaux et de niveaux intermédiaires chez des adolescents et des adultes ayant un TSA. Ces deux objectifs ont été évalué en utilisant les mêmes stimuli et procédures. Plus précisément, la sensibilité de formes circulaires complexes (Formes de Fréquences Radiales ou FFR), définies par de la luminance ou par de la texture, a été mesurée avec une procédure à choix forcés à deux alternatives. Les résultats de la première étude ont illustré que l’information locale des FFR sous-jacents aux processus visuels de niveaux intermédiaires, affecte différemment la sensibilité à travers des périodes développementales distinctes. Plus précisément, lorsque le contour est défini par de la luminance, la performance des enfants est plus faible comparativement à celle des adolescents et des adultes pour les FFR sollicitant la perception globale. Lorsque les FFR sont définies par la texture, la sensibilité des enfants est plus faible comparativement à celle des adolescents et des adultes pour les conditions locales et globales. Par conséquent, le type d’information locale, qui définit les éléments locaux de la forme globale, influence la période à laquelle la sensibilité visuelle atteint un niveau développemental similaire à celle identifiée chez les adultes. Il est possible qu’une faible intégration visuelle entre les mécanismes de bas et de niveaux intermédiaires explique la sensibilité réduite des FFR chez les enfants. Ceci peut être attribué à des connexions descendantes et horizontales immatures ainsi qu’au sous-développement de certaines aires cérébrales du système visuel. Les résultats de la deuxième étude ont démontré que la sensibilité visuelle en autisme est influencée par la manipulation de l’information locale. Plus précisément, en présence de luminance, la sensibilité est seulement affectée pour les conditions sollicitant un traitement local chez les personnes avec un TSA. Cependant, en présence de texture, la sensibilité est réduite pour le traitement visuel global et local. Ces résultats suggèrent que la perception de formes en autisme est reliée à l’efficacité à laquelle les éléments locaux (luminance versus texture) sont traités. Les connexions latérales et ascendantes / descendantes des aires visuelles primaires sont possiblement tributaires d’un déséquilibre entre les signaux excitateurs et inhibiteurs, influençant ainsi l’efficacité à laquelle l’information visuelle de luminance et de texture est traitée en autisme. Ces résultats supportent l’hypothèse selon laquelle les altérations de la perception visuelle de bas niveaux (local) sont à l’origine des atypies de plus hauts niveaux chez les personnes avec un TSA.Most studies investigating visual perception in typically developing populations and in Autism Spectrum Disorder (ASD) have assessed lower- (local) and higher-levels (global) of processing in isolation. However, much less is known about the developmental interactions between mechanisms mediating early- and intermediate-level vision in both typically developing populations and in ASD. Based on such premise, the present thesis had two main objectives. The first objective (Study 1) was to evaluate the developmental interplay between low- and intermediate-levels of visual analysis at different periods of typical development (school-age, adolescence and adulthood). The second objective (Study 2) was to evaluate the functional relationship between low- and intermediate-levels of visual analysis in adolescents and adults diagnosed with ASD. Common methodologies were used to assess both objectives. Specifically, sensitivity to slightly curved circles (Radial Frequency Patterns or RFP), defined by luminance or texture information, was measured using a two alternative temporal forced choice procedure. Results obtained in Study 1 demonstrated that local information defining a RFP (mediated by intermediate visual mechanisms) differentially affected sensitivity at different periods of development. Specifically, when the contour was luminance-defined, children performed worse when compared to adolescents and adults only when RFPs targeted a global processing style (few deformations along the RFP’s contour). When RFPs were texture-defined, children’s sensitivity was worse compared to that of adolescents and adults for both local and global conditions. Therefore, timing of adult-like sensitivity to RFPs is dependent on the type of local physical elements defining its global shape. Poor visual integration between low and intermediate visual mechanisms, which could be attributed to immature feedback and horizontal connections as well as under-developed visual cortical areas, may account for such reduced sensitivity in children. Results obtained from Study 2 demonstrated that manipulating the local physical elements of RFPs impacts visual sensitivity in ASD. Specifically, sensitivity to RFPs is unaffected in ASD only when visual analysis is dependent on local deformations of luminance-defined contours. However, sensitivity is reduced for both local and global visual analysis when shapes are texture-defined. Such results suggest that intermediate-level, shape perception in ASD is functionally related to the efficacy with which local physical elements (luminance versus texture) are processed. It is possible that abnormal lateral or feed-forward / feedback connectivity within primary visual areas in ASD, which possibly arise from excitatory / inhibitory signalling imbalance, accounts for differential efficacy with which luminance and texture information is processed in ASD. These results support the hypothesis that atypical higher-level perception in ASD, when present, may have early (local) visual origins

Nuclear export competence of pre-40S subunits in fission yeast requires the ribosomal protein Rps2

Ribosome biogenesis is an evolutionarily conserved pathway that requires ribosomal and nonribosomal proteins. Here, we investigated the role of the ribosomal protein S2 (Rps2) in fission yeast ribosome synthesis. As for many budding yeast ribosomal proteins, Rps2 was essential for cell viability in fission yeast and the genetic depletion of Rps2 caused a complete inhibition of 40S ribosomal subunit production. The pattern of pre-rRNA processing upon depletion of Rps2 revealed a reduction of 27SA2 pre-rRNAs and the concomitant production of 21S rRNA precursors, consistent with a role for Rps2 in efficient cleavage at site A2 within the 32S pre-rRNA. Importantly, kinetics of pre-rRNA accumulation as determined by rRNA pulse-chases assays indicated that a small fraction of 35S precursors matured into 20S-containing particles, suggesting that most 40S precursors were rapidly degraded in the absence of Rps2. Analysis of steady-state RNA levels revealed that some pre-40S particles were produced in Rps2-depleted cells, but that these precursors were retained in the nucleolus. Our findings suggest a role for Rps2 in a mechanism that monitors pre-40S export competence

Increased Sensitivity to Mirror Symmetry in Autism

Can autistic people see the forest for the trees? Ongoing uncertainty about the integrity and role of global processing in autism gives special importance to the question of how autistic individuals group local stimulus attributes into meaningful spatial patterns. We investigated visual grouping in autism by measuring sensitivity to mirror symmetry, a highly-salient perceptual image attribute preceding object recognition. Autistic and non-autistic individuals were asked to detect mirror symmetry oriented along vertical, oblique, and horizontal axes. Both groups performed best when the axis was vertical, but across all randomly-presented axis orientations, autistics were significantly more sensitive to symmetry than non-autistics. We suggest that under some circumstances, autistic individuals can take advantage of parallel access to local and global information. In other words, autistics may sometimes see the forest and the trees, and may therefore extract from noisy environments genuine regularities which elude non-autistic observers

Pharmacogenomics of the efficacy and safety of Colchicine in COLCOT

© 2021 The Authors. Circulation: Genomic and Precision Medicine is published on behalf of the American Heart Association, Inc., by Wolters Kluwer Health, Inc. This is an open access article under the terms of the Creative Commons Attribution Non-Commercial License, which permits use, distribution, and reproduction in any medium, provided that the original work is properly cited and is not used for commercial purposes.Background: The randomized, placebo-controlled COLCOT (Colchicine Cardiovascular Outcomes Trial) has shown the benefits of colchicine 0.5 mg daily to lower the rate of ischemic cardiovascular events in patients with a recent myocardial infarction. Here, we conducted a post hoc pharmacogenomic study of COLCOT with the aim to identify genetic predictors of the efficacy and safety of treatment with colchicine. Methods: There were 1522 participants of European ancestry from the COLCOT trial available for the pharmacogenomic study of COLCOT trial. The pharmacogenomic study's primary cardiovascular end point was defined as for the main trial, as time to first occurrence of cardiovascular death, resuscitated cardiac arrest, myocardial infarction, stroke, or urgent hospitalization for angina requiring coronary revascularization. The safety end point was time to the first report of gastrointestinal events. Patients' DNA was genotyped using the Illumina Global Screening array followed by imputation. We performed a genome-wide association study in colchicine-treated patients. Results: None of the genetic variants passed the genome-wide association study significance threshold for the primary cardiovascular end point conducted in 702 patients in the colchicine arm who were compliant to medication. The genome-wide association study for gastrointestinal events was conducted in all 767 patients in the colchicine arm and found 2 significant association signals, one with lead variant rs6916345 (hazard ratio, 1.89 [95% CI, 1.52-2.35], P=7.41×10-9) in a locus which colocalizes with Crohn disease, and one with lead variant rs74795203 (hazard ratio, 2.51 [95% CI, 1.82-3.47]; P=2.70×10-8), an intronic variant in gene SEPHS1. The interaction terms between the genetic variants and treatment with colchicine versus placebo were significant. Conclusions: We found 2 genomic regions associated with gastrointestinal events in patients treated with colchicine. Those findings will benefit from replication to confirm that some patients may have genetic predispositions to lower tolerability of treatment with colchicine.info:eu-repo/semantics/publishedVersio

Role for miR-204 in human pulmonary arterial hypertension

Reduced miR-204 expression facilitates the excessive proliferation and apoptosis resistance of pulmonary artery smooth muscle cells characteristic of human pulmonary arterial hypertension

Strategies that promote the mathematical activity of students with language disorders: an analysis of language interactions

International audienceThis article outlines the methods of a teacher of mathematics who works with a class of students with language disorders related to autism. By adopting the theoretical framework of the Dual Approach (ergonomics and didactics) and Maturanian epistemology, we show how an analysis of language interactions allows for a better understanding of teaching practices and their influence on the mathematical activity of students. We explore the nature of the language interactions, both verbal and non-verbal, within a specific learning project, when it comes to reinvesting, in a non-explicit way, basic mathematical objects. Our analysis highlights the richness of a practice in which the teacher proposes different types of help to trigger the mathematical activity of her students

Analyse des interactions dans une classe où les élèves présentent des difficultés langagières: l’influence des pratiques d’une enseignante sur l’activité mathématique des élèves

Dans le cadre de cet article, nous nous intéressons aux pratiques enseignantes ainsi qu’à l’activité mathématique des élèves dans le contexte de l’éducation spécialisée au Québec. À cet effet, nous étudions une classe où le langage est un enjeu pour l’enseignante, vu les difficultés langagières des élèves. Nos analyses cherchent, d’une part, à déterminer les contraintes institutionnelles et sociales qui influencent les pratiques enseignantes en mathématiques et, d’autre part, à rendre compte des moyens langagiers de médiation utilisés par l’enseignante au cœur de sa pratique, dans le but de mener une activité mathématique avec ses élèves. Sous le regard de la double approche didactique et ergonomique ainsi que de l’épistémologie maturanienne, nous présentons une méthodologie à trois niveaux permettant d’approcher la complexité de la pratique enseignante dans le contexte particulier de cette classe. Par l’entremise de l’analyse des formes de travail ainsi que des interactions langagières, nous exposons l’impact des contraintes institutionnelles sur la pratique de cette enseignante concernant les possibilités de mener une activité mathématique

Analyse des interactions dans une classe où les élèves présentent des difficultés langagières : L’influence des pratiques d’une enseignante sur l’activité mathématique des élèves

For the purposes of this article, we focus on teaching practices as well as the students’ mathematical activity in the context of special education in Quebec. To this end, we study a class where language is an issue for the teacher, given the language difficulties of the students. Our analysis seek, on the one hand, to determine the institutional and social constraints that influence teaching practices in mathematics and, on the other hand, to report on the means of mediation used by the teacher at the core of his/her practice for the purpose of conducting a mathematical activity with his/her students. Under a didactic and ergonomic approach as well as from the Maturanian epistemology, we present a three-level methodology to approach the complexity of teaching practice in a class within this particular context. Through the analysis of work organisation types as well as language interactions, we expose the impact of institutional constraints on the practice of this teacher concerning the possibilities of conducting a mathematical activity.En este artículo, nos interesamos en las prácticas de enseñanza, así como en la actividad matemática de los alumnos en el contexto de la educación especial en Quebec. Con este fin, estudiamos una clase donde el lenguaje se presenta como un problema para el maestro, dadas las dificultades lingüísticas de los alumnos. Nuestro análisis busca, por un lado, determinar las restricciones institucionales y sociales que influyen en las prácticas docentes en matemáticas y, por otro, dar cuenta de los medios lingüísticos de mediación utilizados por una maestra al intentar realizar una actividad matemática con sus alumnos. Bajo la mirada del doble enfoque didáctico y ergonómico, así como de la epistemología de Maturana, presentamos una metodología en tres niveles que permite abordar la complejidad de la práctica docente en el contexto particular de una clase. A través del análisis de las formas de trabajo y las interacciones lingüísticas, exponemos el impacto de las restricciones institucionales en la práctica de una maestra con respecto a las posibilidades de llevar a cabo una actividad matemática