International consensus recommendations on the diagnostic work-up for malformations of cortical development

Malformations of cortical development (MCDs) are neurodevelopmental disorders that result from abnormal development of the cerebral cortex in utero. MCDs place a substantial burden on affected individuals, their families and societies worldwide, as these individuals can experience lifelong drug-resistant epilepsy, cerebral palsy, feeding difficulties, intellectual disability and other neurological and behavioural anomalies. The diagnostic pathway for MCDs is complex owing to wide variations in presentation and aetiology, thereby hampering timely and adequate management. In this article, the international MCD network Neuro-MIG provides consensus recommendations to aid both expert and non-expert clinicians in the diagnostic work-up of MCDs with the aim of improving patient management worldwide. We reviewed the literature on clinical presentation, aetiology and diagnostic approaches for the main MCD subtypes and collected data on current practices and recommendations from clinicians and diagnostic laboratories within Neuro-MIG. We reached consensus by 42 professionals from 20 countries, using expert discussions and a Delphi consensus process. We present a diagnostic workflow that can be applied to any individual with MCD and a comprehensive list of MCD-related genes with their associated phenotypes. The workflow is designed to maximize the diagnostic yield and increase the number of patients receiving personalized care and counselling on prognosis and recurrence risk

Pourrait-on restaurer des pelouses sèches par pilotage de la succession primaire des fonds de carrières sèches ? Premier diagnostic en plaine de Crau

[Departement_IRSTEA]Territoires [TR1_IRSTEA]SEDYVINNational audienceDans le cadre des connaissances scientifiques et techniques actuelles, il est aujourd’hui impossible de restaurer l’intégralité des écosystèmes. C’est notamment le cas des pelouses sèches dégradées par des phases culturales où le pilotage des trajectoires de successions végétales secondaires restent encore relativement imprévisible même à courts termes. De nouvelles approches doivent être envisagées, notamment via la compréhension des successions primaires. Les fonds de carrières sèches alluvionnaires abandonnées représentent de nouveaux habitats potentiels pour les pelouses sèches mais dont il faut encore réaliser le diagnostic écologique pour mieux appréhender : (1) la biodiversité actuelle et les successions primaires des communautés végétales après arrêt de l’exploitation, (2) les trajectoires éventuelles qui permettraient un retour aux pelouses sèches de référence qui pré-existaient et, (3) des propositions de techniques de reconstruction de ces habitats grâce à des méthodes bio-inspirées pour initier ces successions dans le cadre de la restauration sur dépôts d’inertes, décharges, friches industrielles voir des écotoits sur des batiments à biodiversité positive. Dans certains cas, les fonds de carrières sèches abandonnées de la plaine de Crau (Bouches-du-Rhône, France) présenteraient des potentialités intéressantes de restauration spontanée de la végétation steppique des Coussouls de Crau. Les successions primaires semblent y dépendre des caractéristiques physico-chimiques du sous-sol (isolé ou non de la nappe phréatique) mais aussi du substrat présent en surface des carreaux (régalage ou non de la terre végétale) et enfin, de la remise en place du système de pâturage ovin traditionnel. Des relevés de végétation, enquêtes pastorales, profils et analyses de sol seront donc effectués au printemps 2015 afin de réaliser un diagnostique des différentes potentialités de ces milieux en termes de biodiversité, mais aussi de recréation éventuelle via des techniques de génie écologique

Restaurer ou non les carrières abandonnées : le choix peut dépendre des points de vue des acteurs

International audienceWhether we should intervene or not on abandoned anthropogenic ecosystem remains a central question in restoration ecology. Answers to this question may differ from the stakeholder's point of view. Integrating these points of view when monitoring different options that had been carried out decades ago (actively restoring or not) could provide a basis for the future choices. We focused on abandoned quarries in the South-East of France (La Crau area, a Mediterranean steppe ecosystem). Some of them have been partially refilled with the steppe topsoil, some refilled with exogenous soils and some not refilled at all. Our study will focus on the question: which of the different abandonment options provided the best restoration success? Many characteristics have been measured on these systems, such as the plant communities, the presence of amphibians and birds or the soil characteristics. Based on a sociological study we also have some indicators of stakeholder's perceptions of the different ecosystems that could develop there. Our study will use the ASPIRE framework: Appraising the Success of Project In ecological Restoration and Ecological engineering, which allow the summarization of a whole project success through all its dimensions or objectives. It has been specifically developed to integrate the point of view of different stakeholders. The framework is hierarchized in three levels: the variables, the objectives and the project. The ultimate score of the project is a weighted mean of objectives scores; the objectives scores are weighted means of their variables scores and the variables scores are calculated through a utility function based on the variables values relative to their references. While the success scores are calculated on the same data provided by monitoring, as each stakeholder gives a weight to the different objectives, ASPIRE is able to provide a success score for each stakeholders

Restaurer ou non les carrières abandonnées : le choix peut dépendre des points de vue des acteurs

International audienceWhether we should intervene or not on abandoned anthropogenic ecosystem remains a central question in restoration ecology. Answers to this question may differ from the stakeholder's point of view. Integrating these points of view when monitoring different options that had been carried out decades ago (actively restoring or not) could provide a basis for the future choices. We focused on abandoned quarries in the South-East of France (La Crau area, a Mediterranean steppe ecosystem). Some of them have been partially refilled with the steppe topsoil, some refilled with exogenous soils and some not refilled at all. Our study will focus on the question: which of the different abandonment options provided the best restoration success? Many characteristics have been measured on these systems, such as the plant communities, the presence of amphibians and birds or the soil characteristics. Based on a sociological study we also have some indicators of stakeholder's perceptions of the different ecosystems that could develop there. Our study will use the ASPIRE framework: Appraising the Success of Project In ecological Restoration and Ecological engineering, which allow the summarization of a whole project success through all its dimensions or objectives. It has been specifically developed to integrate the point of view of different stakeholders. The framework is hierarchized in three levels: the variables, the objectives and the project. The ultimate score of the project is a weighted mean of objectives scores; the objectives scores are weighted means of their variables scores and the variables scores are calculated through a utility function based on the variables values relative to their references. While the success scores are calculated on the same data provided by monitoring, as each stakeholder gives a weight to the different objectives, ASPIRE is able to provide a success score for each stakeholders

Utiliser les effets de priorité pour restaurer des communautés végétales : une question à creuser ?

National audienceDe nombreux projets de restauration ont pour objectif principal la restauration d’une communauté végétale de référence. La restauration peut être passive, se basant uniquement sur la dynamique de recolonisation spontanée. Afin d’accélérer ou de rendre possible la restauration, elle peut également être active : la dynamique est manipulée, soit par modification des conditions abiotiques ou biotique, soit par forçage de la dispersion des espèces. Dans l’immense majorité des cas, le forçage de la dispersion des espèces est réalisé en une seule fois pour l’ensemble des espèces transplantées (par semis, par transfert de foin, etc.). Cette arrivée simultanée d’espèces différentes dans un écosystème ne fait que rarement partie de l’histoire de la communauté de référence, souvent issues de décades, centenaires ou millénaires d’interactions entre l’environnement, les espèces présentes et la pression de propagules. Or il est admis que la contingence historique peut modifier la composition et la structure d’une communauté par effet de priorité. L’effet de priorité est le fait qu’une espèce bénéficie d’un avantage compétitif causé par son arrivée précoce dans la communauté. La description de cet effet a permis de comprendre certaines observations comme l’effet loterie, l’existence d’états alternatifs stables, la co-existence d’espèces sans exclusion compétitive ou encore l’avantage de certaines espèces invasives. Dans un cadre de restauration, nous pourrions imaginer utiliser cet effet afin de modifier la dynamique de communautés restaurées en utilisant des séquences d’arrivée pour différentes espèces afin d’augmenter le succès de restauration et de minimiser les couts de restauration. Malgré des perspectives intéressantes, de nombreuses questions restent en suspens : Jusqu’à quel point l’effet de priorité peut contre balancer les différences de compétitivité ? Comment déterminer les séquences d’arrivée des espèces ? Quel intervalle entre deux arrivées ? Quel effet sur le long-terme ? L’objectif de ce poster est de faire naître des discussions autour de l’utilisation potentielle des effets de priorité dans la restauration des communautés végétales

Le réseau REVER : Réseau d’Echanges et de Valorisation en Ecologie de la Restauration

International audienceREVER, the French-speaking network on ecological restoration, was created in 2008 with the help of CNRS/IRSTEA funding aimed at developing networks in the field of ecological engineering. The purpose of REVER is to organize and promote the relationships and exchanges between managers, practitioners, students and scientists in the fields of restoration ecology and/or ecological restoration. To do so, the network created a website in 2009 (reseau-rever) allowing the various stakeholders (about 200 people registered) to share information and to contribute to databases. Indeed, facilitating access to technical and scientific information should help improve the quality of ecological restoration projects. Every year or so, the network also co-organizes a 2-day conference open to all stakeholders concerned by ecological restoration, which generally gathers between 100 to 200 participants. Talks are mainly given jointly by a minimum of two speakers with a different background to highlight the issues, but also the advantages of scientist-practitioner collaborations in restoration projects and to keep information more easily translated into on-the-ground activities. In 2011, REVER became an official NGO base in France. Thanks to this official status, REVER actively participates in institutional working groups and meetings concerning. REVER also builds relationships with other networks involved in ecological engineering

Libérer ou restaurer les carrières abandonnées ? Le cas de la plaine de la Crau dans le Sud-Est de la France

International audienceIn the plain of La Crau (South-Eastern France), dry alluvial quarries are exploited since the 1970s, which has caused the destruction of more than 300 ha of the unique Mediterranean steppe of France. Relations established with quarry operators and scientists were developed at first under legal obligations to restore quarries after the end of exploitation. First results obtained since 2010 have shown that it was possible to use direct soil translocation for restoring the pre-existing steppe plant community (plant composition, species-richness); nevertheless, it was not possible to restore its whole integrity (plant diversity, structure, species turn-over, etc.). The use of this technique was also only possible when the pre-existing steppe vegetation and its soil had not been already destroyed. Then, since 2015, different complementary scientific experimentations have shown that new materials (substrate-soil mixtures) and processes could be proposed not only for increasing restoration success in the quarries but also to restore other degraded areas such as landfills, photovoltaic fields or even to create sustainable green roofs without irrigation in the Mediterranean area. Here we will present the first results of these different experimentations realized in partnership between quarry operators and scientists for the development of these new technologies at operational scales

10 années de relations entre scientifiques et carriers : de collaborations contraintes à un partenariat gagnant-gagnant pour la biodiversité

International audienceIn the plain of La Crau (South-Eastern France), dry alluvial quarries are exploited since the 1970s, which has caused the destruction of more than 300 ha of the unique Mediterranean steppe of France. Relations established with quarry operators and scientists were developed at first under legal obligations to restore quarries after the end of exploitation. First results obtained since 2010 have shown that it was possible to use direct soil translocation for restoring the pre-existing steppe plant community (plant composition, species-richness); nevertheless, it was not possible to restore its whole integrity (plant diversity, structure, species turn-over, etc.). The use of this technique was also only possible when the pre-existing steppe vegetation and its soil had not been already destroyed. Then, since 2015, different complementary scientific experimentations have shown that new materials (substrate-soil mixtures) and processes could be proposed not only for increasing restoration success in the quarries but also to restore other degraded areas such as landfills, photovoltaic fields or even to create sustainable green roofs without irrigation in the Mediterranean area. Here we will present the first results of these different experimentations realized in partnership between quarry operators and scientists for the development of these new technologies at operational scales

10 années de relations entre scientifiques et carriers : de collaborations contraintes à un partenariat gagnant-gagnant pour la biodiversité

International audienceIn the plain of La Crau (South-Eastern France), dry alluvial quarries are exploited since the 1970s, which has caused the destruction of more than 300 ha of the unique Mediterranean steppe of France. Relations established with quarry operators and scientists were developed at first under legal obligations to restore quarries after the end of exploitation. First results obtained since 2010 have shown that it was possible to use direct soil translocation for restoring the pre-existing steppe plant community (plant composition, species-richness); nevertheless, it was not possible to restore its whole integrity (plant diversity, structure, species turn-over, etc.). The use of this technique was also only possible when the pre-existing steppe vegetation and its soil had not been already destroyed. Then, since 2015, different complementary scientific experimentations have shown that new materials (substrate-soil mixtures) and processes could be proposed not only for increasing restoration success in the quarries but also to restore other degraded areas such as landfills, photovoltaic fields or even to create sustainable green roofs without irrigation in the Mediterranean area. Here we will present the first results of these different experimentations realized in partnership between quarry operators and scientists for the development of these new technologies at operational scales

The Structuralist Thesis Reconsidered

Øystein Linnebo and Richard Pettigrew ([2014]) have recently developed a version of noneliminative mathematical structuralism based on Fregean abstraction principles. They argue that their theory of abstract structures proves a consistent version of the structuralist thesis that positions in abstract structures only have structural properties. They do this by defining a subset of the properties of positions in structures, so-called fundamental properties, and argue that all fundamental properties of positions are structural. In this paper, we argue that the structuralist thesis, even when restricted to fundamental properties, does not follow from the theory of structures that Linnebo and Pettigrew have developed. To make their account work, we propose a formal framework in terms of Kripke models that makes structural abstraction precise. The formal framework allows us to articulate a revised definition of fundamental properties, understood as intensional properties. Based on this revised definition, we show that the restricted version of the structuralist thesis holds.© The Author(s) 201