Éditeur(s) : HAL CCSD Springer Verlag
Résumé : International audience
ISSN: 0258-8900

hal-00682343
https://hal.archives-ouvertes.fr/hal-00682343
DOI : 10.1007/s00445-011-0554-0

Éditeur(s) : HAL CCSD
Résumé : International audience
Background Orodental diseases include several clinically and genetically heterogeneous disorders that can present in isolation or as part of a genetic syndrome. Due to the vast number of genes implicated in these disorders, establishing a molecular diagnosis can be challenging. We aimed to develop a targeted next-generation sequencing (NGS) assay to diagnose mutations and potentially identify novel genes mutated in this group of disorders. Methods We designed an NGS gene panel that targets 585 known and candidate genes in orodental disease. We screened a cohort of 101 unrelated patients without a molecular diagnosis referred to the Reference Centre for Oro-Dental Manifestations of Rare Diseases, Strasbourg, France, for a variety of orodental disorders including isolated and syndromic amelogenesis imperfecta (AI), isolated and syndromic selective tooth agenesis (STHAG), isolated and syndromic dentinogenesis imperfecta, isolated dentin dysplasia, otodental dysplasia and primary failure of tooth eruption. Results We discovered 21 novel pathogenic variants and identified the causative mutation in 39 unrelated patients in known genes (overall diagnostic rate: 39%). Among the largest subcohorts of patients with isolated AI (50 unrelated patients) and isolated STHAG (21 unrelated patients), we had a definitive diagnosis in 14 (27%) and 15 cases (71%), respectively. Surprisingly, COL17A1 mutations accounted for the majority of autosomal-dominant AI cases. Conclusions We have developed a novel targeted NGS assay for the efficient molecular diagnosis of a wide variety of orodental diseases. Furthermore, our panel will contribute to better understanding the contribution of these genes to orodental disease. Trial registration numbers NCT01746121 and NCT02397824
Journal of Medical Genetics

hal-01272929
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01272929
DOI : 10.1136/jmedgenet-2015-103302
PUBMED : 26502894

Éditeur(s) : HAL CCSD
Résumé : International audience
The purpose of this study is to identify links between the geothermal context and the conceptions in different initial teachers training, from the Caribbean and North America. The Caribbean Islands are located in a subduction zone, creating a great potential for geothermal energy. In Guadeloupe, this potential has been harnessed and a geothermal power plant produces about 5% of the local demand for electricity. It is called high temperature geothermy. In Quebec the bedrock mainly consists of ancient Precambrian rocks from the Canadian Shield, which does not allow for electricity production. The geothermal heat is used to regulate the temperature in buildings, to create spars, to grow crops and other purposes. It is called low temperature geothermy. This design-based research (Sandoval, W. et Al., 2004) takes part in the contextualization of sciences education research works (Blanchet, P. et Al., 2009, Anciaux, F. et Al., 2013) and in the continuation of the Gounouy project (Fecil, S. et Al., 2014). A project-based learning on geothermal energy has been set up with two groups of initial teachers training from the Université du Québec à Montréal (UQAM) and from the French West Indies University (UA). The purpose is to create collaborations between each group in order to enable them to encounter, recognize and formulate their conceptions. Further, they will collectively elaborate a more complex understanding of conceptions about geothermy. More specifically, the design used in this experiment aims to highlight context effects (Merlo-Leurette, S., Forissier, T., 2009). Context effects are pedagogical events occurring when there is a clash between the different conceptions of students, observed uring courses regarding different problematics related to geothermal energy. Communications via videoconferences were arranged so that the counterpart teams may discuss their investigative findings. Videos from the exchanges have been collected, as well as weekly summaries about student’s accomplishment, ideas, questions and feelings. Pre-test and post-test questionnaires on geothermal energy were submitted at the beginning and at the end of the project, to compare conceptions before and after the learning process. Collected data enables to bring out the student’s contextuality. Therefore, they highlight context effects, due to the differences between the geothermal contexts in Guadeloupe and in Montreal.This study is supported by the Geotref project.
CARIBBEAN ACADEMY OF SCIENCES 20 th GENERAL ASSEMBLY AND BIENNAL MEETING
Dehaies, Guadeloupe, France

hal-01534665
https://hal.univ-antilles.fr/hal-01534665

Éditeur(s) : HAL CCSD
Résumé : Proceedings of the 10th International and Interdisciplinary Conference, CONTEXT 2017, Paris, France, June 20-23, 2017
International audience
This paper presents a research project in science education that is positioned at the intersection of computer science and context in learning. The main objective is to improve learning process by creating a software tool that participates, from the inception to the achievement, in the design of leaning scenarios, based on context effects, and, to show that context effects' learning is an efficient method in the development of student's knowledge regarding a concept. The software will compute differences between two – or more – external contexts based on specific parameters, related to the phenomenon or object that students are expected to study. The elaboration of the calculator (" the MazCalc ") is conducted using the design based research theory, meaning that several iterations of learning field experiments are conducted in order to collect relevant data which are used for the tool creation. In this paper, the design of the scenario involves students from North America and from the French West Indies and the concept studied is about geothermal energy. The instantiation of the context calculator is made with the geothermal object of study, and the differences are computed in the calculator between the two contexts mentioned. This example makes possible to validate the link between context effects predicted and observed, and also to study the impact of external context on the learning process. This study has been conducted thanks to the GEOTREF project support.
Modeling and Using Context

ISBN : 978-3-319-57837-8
hal-01625781
https://hal.univ-antilles.fr/hal-01625781
https://hal.univ-antilles.fr/hal-01625781/document
https://hal.univ-antilles.fr/hal-01625781/file/Elaborating%20the%20context%20calculator%20CONTEXT2017.pdf

Éditeur(s) : HAL CCSD
Résumé : International audience
CONTEXT
Paris, France

hal-01619948
https://hal.univ-antilles.fr/hal-01619948

Éditeur(s) : HAL CCSD
Résumé : International audience
This work presents a synthesis of the present-day knowledge on both emerged and submerged carbonate platforms of the Guadeloupe archipelago. Onshore and offshore data acquired during the KaShallow project are presented. Since the early Zanclean, some isolated platforms developed onto a Jurassic to Tortonian basement which displayed reliefs inherited from a major extensional tectonic episode dated from −8 to −5 Ma. Marie-Galante, Grande Terre and the southern shelf of Grande-Terre show strong similarities with Zanclean to Gelasian red-algal facies upward changing into early Calabrian coral facies. A major erosional unconformity (SB2) was recognized and allows to distinguish two early Calabrian formations (Calcaires à Agaricia Formation and Calcaires à Acropora Formation). The final emersion of these platforms is late Calabrian. The La Désirade platform displays Zanclean to early Piacenzian red-algal facies upward changing into coral facies. This platform emerged as soon as in the late Piacenzian. The island subsided again in relation with later extensional tectonic episode and early Calabrian reef platform then unconformably deposited. The Colombie bank deposits comprise Pliocene basinal deposits overlain by late Calabrian coral reefs. The Flandre bank might have emerged synchronously with La Désirade but was drowned only in the late Pleistocene-Holocene interval. Four extensional tectonic episodes have been identified in the late Miocene-Recent interval. Their effects depend on the location of the platforms within the fore-arc.
Bulletin Société Géologique de France

insu-00816463
https://hal-insu.archives-ouvertes.fr/insu-00816463
DOI : 10.2113/gssgfbull.184.1-2.99