Évolution du portrait littéracique d'élèves inscrits à la maternelle de l'école Wahta' à Wendake

Le présent projet de recherche présente l’évolution du portrait littéracique de 11 élèves de maternelle inscrits à l’école Wahta’, une école primaire située dans la communauté de Wendake, à Québec. Deux collectes de données ont été réalisées : une au début de l’année scolaire et l’autre à la fin de l’année scolaire 2018-2019. Ces collectes de données ont permis de déterminer les habiletés des enfants en lecture et en écriture. Afin d’évaluer leur progression, trois fondements ont été analysés auprès des élèves : la structuration du récit, la structuration de la syntaxe et la représentation du système alphabétique. Les résultats montrent que la majorité des enfants progressent concernant la structuration du récit, mais peu atteignent un niveau de causalité nécessaire au début de l’apprentissage formel de la lecture. Au niveau de la syntaxe, les analyses qualitatives marquent peu de progrès, les enfants étant généralement déjà avancés dès le début de l’année scolaire. Quant à la représentation du système alphabétique, plus de la moitié des enfants n’ont pas progressé au niveau du code. En fin de maternelle, seulement cinq enfants sur 11 montrent une progression suffisante pour amorcer les débuts du décodage. La présente étude souligne l’importance de suivre le développement littéracique des enfants autochtones et de favoriser l’émergence de la littéracie en l’ancrant dans des interventions faisant intervenir la culture autochtone et la littérature d’enfance autochtone.This research presents the evolution of the literacy of 11 kindergarten children at Wahta’ school, an elementary school located in the community of Wendake, in Québec. Two data collections were carried out: one at the beginning of the school year and the other at the end of the 2018-2019 school year. These data collections made it possible to determine the children's reading and writing skills. In order to assess their progress, three foundations were analyzed: the narration, the syntax and the representation of the alphabetical system. The results show that the majority of children make progress in structuring the narrative, but few achieve the level of causality necessary at the start of formal learning to read. In terms of syntax, qualitative analyzes show little progress, as children from the start of the year are generally already advanced. As for the representation of the alphabetical system, more than half of the children did not progress at the code level. At the end of kindergarten, only five children out of eleven show sufficient progress to the beginnings of decoding. This study highlights the importance of monitoring the literacy development of First Nations children and of fostering the emergence of literacy by anchoring it in interventions involving culture and child's literature of First Nations

Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia

Dopa-responsive dystonia is a childhood-onset dystonic disorder, characterized by a dramatic response to low dose of l-Dopa. Dopa-responsive dystonia is mostly caused by autosomal dominant mutations in the GCH1 gene (GTP cyclohydrolase1) and more rarely by autosomal recessive mutations in the TH (tyrosine hydroxylase) or SPR (sepiapterin reductase) genes. In addition, mutations in the PARK2 gene (parkin) which causes autosomal recessive juvenile parkinsonism may present as Dopa-responsive dystonia. In order to evaluate the relative frequency of the mutations in these genes, but also in the genes involved in the biosynthesis and recycling of BH4, and to evaluate the associated clinical spectrum, we have studied a large series of index patients (n = 64) with Dopa-responsive dystonia, in whom dystonia improved by at least 50% after l-Dopa treatment. Fifty seven of these patients were classified as pure Dopa-responsive dystonia and seven as Dopa-responsive dystonia-plus syndromes. All patients were screened for point mutations and large rearrangements in the GCH1 gene, followed by sequencing of the TH and SPR genes, then PTS (pyruvoyl tetrahydropterin synthase), PCBD (pterin-4a-carbinolamine dehydratase), QDPR (dihydropteridin reductase) and PARK2 (parkin) genes. We identified 34 different heterozygous point mutations in 40 patients, and six different large deletions in seven patients in the GCH1 gene. Except for one patient with mental retardation and a large deletion of 2.3 Mb encompassing 10 genes, all patients had stereotyped clinical features, characterized by pure Dopa-responsive dystonia with onset in the lower limbs and an excellent response to low doses of l-Dopa. Dystonia started in the first decade of life in 40 patients (85%) and before the age of 1 year in one patient (2.2%). Three of the 17 negative GCH1 patients had mutations in the TH gene, two in the SPR gene and one in the PARK2 gene. No mutations in the three genes involved in the biosynthesis and recycling of BH4 were identified. The clinical presentations of patients with mutations in TH and SPR genes were strikingly more complex, characterized by mental retardation, oculogyric crises and parkinsonism and they were all classified as Dopa-responsive dystonia-plus syndromes. Patient with mutation in the PARK2 gene had Dopa-responsive dystonia with a good improvement with l-Dopa, similar to Dopa-responsive dystonia secondary to GCH1 mutations. Although the yield of mutations exceeds 80% in pure Dopa-responsive dystonia and Dopa-responsive dystonia-plus syndromes groups, the genes involved are clearly different: GCH1 in the former and TH and SPR in the late

Archival of the water stable isotope signal in East Antarctic ice cores

The oldest ice core records are obtained from the East Antarctic plateau. Water stable isotopes records are key for reconstructions of past climatic conditions both over the ice sheet and at the evaporation source. The accuracy of such climate reconstructions crucially depends on the knowledge of all the processes affecting the water vapour, precipitation and snow isotopic composition. Atmospheric fractionation processes are well understood and can be integrated in Rayleigh distillation and complex isotope enabled climate models. However, a comprehensive quantitative understanding of processes potentially altering the snow isotopic composition after the deposition is still missing, especially for exchanges between vapour and snow. In low accumulation sites such as found on the East Antarctic Plateau, these poorly constrained processes are especially likely to play a significant role. This limits the interpretation of isotopic composition from ice core records, specifically at short time scales. Here, we combine observations of isotopic composition in the vapour, the precipitation, the surface snow and the buried snow from various sites of the East Antarctic Plateau. At the seasonal scale, we highlight a significant impact of metamorphism on surface snow isotopic signal compared to the initial precipitation isotopic signal. In particular, in summer, exchanges of water molecules between vapour and snow are driven by the sublimation/condensation cycles at the diurnal scale. Using highly resolved isotopic composition profiles from pits in five East Antarctic sites, we identify a common 20 cm cycle which cannot be attributed to the seasonal variability of precipitation. Altogether, the smaller range of isotopic compositions observed in the buried and in the surface snow compared to the precipitation, and also the reduced slope between surface snow isotopic composition and temperature compared to precipitation, constitute evidences of post-deposition processes affecting the variability of the isotopic composition in the snow pack. To reproduce these processes in snow-models is crucial to understand the link between snow isotopic composition and climatic conditions and to improve the interpretation of isotopic composition as a paleoclimate proxy

Retrieval of snow properties from the Sentinel-3 Ocean and Land Colour Instrument

The Sentinel Application Platform (SNAP) architecture facilitates Earth Observation data processing. In this work, we present results from a new Snow Processor for SNAP. We also describe physical principles behind the developed snow property retrieval technique based on the analysis of Ocean and Land Colour Instrument (OLCI) onboard Sentinel-3A/B measurements over clean and polluted snow fields. Using OLCI spectral reflectance measurements in the range 400–1020 nm, we derived important snow properties such as spectral and broadband albedo, snow specific surface area, snow extent and grain size on a spatial grid of 300 m. The algorithm also incorporated cloud screening and atmospheric correction procedures over snow surfaces. We present validation results using ground measurements from Antarctica, the Greenland ice sheet and the French Alps. We find the spectral albedo retrieved with accuracy of better than 3% on average, making our retrievals sufficient for a variety of applications. Broadband albedo is retrieved with the average accuracy of about 5% over snow. Therefore, the uncertainties of satellite retrievals are close to experimental errors of ground measurements. The retrieved surface grain size shows good agreement with ground observations. Snow specific surface area observations are also consistent with our OLCI retrievals. We present snow albedo and grain size mapping over the inland ice sheet of Greenland for areas including dry snow, melted/melting snow and impurity rich bare ice. The algorithm can be applied to OLCI Sentinel-3 measurements providing an opportunity for creation of long-term snow property records essential for climate monitoring and data assimilation studies—especially in the Arctic region, where we face rapid environmental changes including reduction of snow/ice extent and, therefore, planetary albedo.publishedVersio

A transdisciplinary perspective of chronic stress in relation to psychopathology throughout life span development

The allostatic load (AL) model represents an interdisciplinary approach to comprehensively conceptualize and quantify chronic stress in relation to pathologies throughout the life cycle. This article first reviews the AL model, followed by interactions among early adversity, genetics, environmental toxins, as well as distinctions among sex, gender, and sex hormones as integral antecedents of AL. We next explore perspectives on severe mental illness, dementia, and caregiving as unique human models of AL that merit future investigations in the field of developmental psychopathology. A complimenting transdisciplinary perspective is applied throughout, whereby we argue that the AL model goes beyond traditional stress–disease theories toward the advancement of person-centered research and practice that promote not only physical health but also mental healt

The Cyst Nematode SPRYSEC Protein RBP-1 Elicits Gpa2- and RanGAP2-Dependent Plant Cell Death

Plant NB-LRR proteins confer robust protection against microbes and metazoan parasites by recognizing pathogen-derived avirulence (Avr) proteins that are delivered to the host cytoplasm. Microbial Avr proteins usually function as virulence factors in compatible interactions; however, little is known about the types of metazoan proteins recognized by NB-LRR proteins and their relationship with virulence. In this report, we demonstrate that the secreted protein RBP-1 from the potato cyst nematode Globodera pallida elicits defense responses, including cell death typical of a hypersensitive response (HR), through the NB-LRR protein Gpa2. Gp-Rbp-1 variants from G. pallida populations both virulent and avirulent to Gpa2 demonstrated a high degree of polymorphism, with positive selection detected at numerous sites. All Gp-RBP-1 protein variants from an avirulent population were recognized by Gpa2, whereas virulent populations possessed Gp-RBP-1 protein variants both recognized and non-recognized by Gpa2. Recognition of Gp-RBP-1 by Gpa2 correlated to a single amino acid polymorphism at position 187 in the Gp-RBP-1 SPRY domain. Gp-RBP-1 expressed from Potato virus X elicited Gpa2-mediated defenses that required Ran GTPase-activating protein 2 (RanGAP2), a protein known to interact with the Gpa2 N terminus. Tethering RanGAP2 and Gp-RBP-1 variants via fusion proteins resulted in an enhancement of Gpa2-mediated responses. However, activation of Gpa2 was still dependent on the recognition specificity conferred by amino acid 187 and the Gpa2 LRR domain. These results suggest a two-tiered process wherein RanGAP2 mediates an initial interaction with pathogen-delivered Gp-RBP-1 proteins but where the Gpa2 LRR determines which of these interactions will be productive

Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry

Activated phosphoinositide 3-kinase (PI3K) δ Syndrome (APDS), caused by autosomal dominant mutations in PIK3CD (APDS1) or PIK3R1 (APDS2), is a heterogeneous primary immunodeficiency. While initial cohort-descriptions summarized the spectrum of clinical and immunological manifestations, questions about long-term disease evolution and response to therapy remain. The prospective European Society for Immunodeficiencies (ESID)-APDS registry aims to characterize the disease course, identify outcome predictors, and evaluate treatment responses. So far, 77 patients have been recruited (51 APDS1, 26 APDS2). Analysis of disease evolution in the first 68 patients pinpoints the early occurrence of recurrent respiratory infections followed by chronic lymphoproliferation, gastrointestinal manifestations, and cytopenias. Although most manifestations occur by age 15, adult-onset and asymptomatic courses were documented. Bronchiectasis was observed in 24/40 APDS1 patients who received a CT-scan compared with 4/15 APDS2 patients. By age 20, half of the patients had received at least one immunosuppressant, but 2–3 lines of immunosuppressive therapy were not unusual before age 10. Response to rapamycin was rated by physician visual analog scale as good in 10, moderate in 9, and poor in 7. Lymphoproliferation showed the best response (8 complete, 11 partial, 6 no remission), while bowel inflammation (3 complete, 3 partial, 9 no remission) and cytopenia (3 complete, 2 partial, 9 no remission) responded less well. Hence, non-lymphoproliferative manifestations should be a key target for novel therapies. This report from the ESID-APDS registry provides comprehensive baseline documentation for a growing cohort that will be followed prospectively to establish prognostic factors and identify patients for treatment studies

Involvement of yeast HSP90 isoforms in response to stress and cell death induced by acetic acid

Acetic acid-induced apoptosis in yeast is accompanied by an impairment of the general protein synthesis machinery, yet paradoxically also by the up-regulation of the two isoforms of the heat shock protein 90 (HSP90) chaperone family, Hsc82p and Hsp82p. Herein, we show that impairment of cap-dependent translation initiation induced by acetic acid is caused by the phosphorylation and inactivation of eIF2 alpha by Gcn2p kinase. A microarray analysis of polysome-associated mRNAs engaged in translation in acetic acid challenged cells further revealed that HSP90 mRNAs are over-represented in this polysome fraction suggesting preferential translation of HSP90 upon acetic acid treatment. The relevance of HSP90 isoform translation during programmed cell death (PCD) was unveiled using genetic and pharmacological abrogation of HSP90, which suggests opposing roles for HSP90 isoforms in cell survival and death. Hsc82p appears to promote survival and its deletion leads to necrotic cell death, while Hsp82p is a pro-death molecule involved in acetic acid-induced apoptosis. Therefore, HSP90 isoforms have distinct roles in the control of cell fate during PCD and their selective translation regulates cellular response to acetic acid stress.This work was supported by Fundacao para a Ciencia e Tecnologia and COMPETE/QREN/EU (PTDC/BIA-MIC/114116/2009), and by the Canadian Institute for Health Research (MOP 89737 to MH). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript

Tactual perception: a review of experimental variables and procedures

This paper reviews literature on tactual perception. Throughout this review we will highlight some of the most relevant variables in touch literature: interaction between touch and other senses; type of stimuli, from abstract stimuli such as vibrations, to two- and three-dimensional stimuli, also considering concrete stimuli such as the relation between familiar and unfamiliar stimuli or the haptic perception of faces; type of participants, separating studies with blind participants, studies with children and adults, and an analysis of sex differences in performance; and finally, type of tactile exploration, considering conditions of active and passive touch, the relevance of movement in touch and the relation between exploration and time. This review intends to present an organised overview of the main variables in touch experiments, attending to the main findings described in literature, to guide the design of future works on tactual perception and memory.This work was funded by the Portuguese “Foundation for Science and Technology” through PhD scholarship SFRH/BD/35918/2007