69 research outputs found

    De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits:report of 25 new individuals and review of the literature

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    TBR1, a T-box transcription factor expressed in the cerebral cortex, regulates the expression of several candidate genes for autism spectrum disorders (ASD). Although TBR1 has been reported as a high-confidence risk gene for ASD and intellectual disability (ID) in functional and clinical reports since 2011, TBR1 has only recently been recorded as a human disease gene in the OMIM database. Currently, the neurodevelopmental disorders and structural brain anomalies associated with TBR1 variants are not well characterized. Through international data sharing, we collected data from 25 unreported individuals and compared them with data from the literature. We evaluated structural brain anomalies in seven individuals by analysis of MRI images, and compared these with anomalies observed in TBR1 mutant mice. The phenotype included ID in all individuals, associated to autistic traits in 76% of them. No recognizable facial phenotype could be identified. MRI analysis revealed a reduction of the anterior commissure and suggested new features including dysplastic hippocampus and subtle neocortical dysgenesis. This report supports the role of TBR1 in ID associated with autistic traits and suggests new structural brain malformations in humans. We hope this work will help geneticists to interpret TBR1 variants and diagnose ASD probands

    Maternal outcomes and risk factors for COVID-19 severity among pregnant women.

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    Pregnant women may be at higher risk of severe complications associated with the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), which may lead to obstetrical complications. We performed a case control study comparing pregnant women with severe coronavirus disease 19 (cases) to pregnant women with a milder form (controls) enrolled in the COVI-Preg international registry cohort between March 24 and July 26, 2020. Risk factors for severity, obstetrical and immediate neonatal outcomes were assessed. A total of 926 pregnant women with a positive test for SARS-CoV-2 were included, among which 92 (9.9%) presented with severe COVID-19 disease. Risk factors for severe maternal outcomes were pulmonary comorbidities [aOR 4.3, 95% CI 1.9-9.5], hypertensive disorders [aOR 2.7, 95% CI 1.0-7.0] and diabetes [aOR2.2, 95% CI 1.1-4.5]. Pregnant women with severe maternal outcomes were at higher risk of caesarean section [70.7% (n = 53/75)], preterm delivery [62.7% (n = 32/51)] and newborns requiring admission to the neonatal intensive care unit [41.3% (n = 31/75)]. In this study, several risk factors for developing severe complications of SARS-CoV-2 infection among pregnant women were identified including pulmonary comorbidities, hypertensive disorders and diabetes. Obstetrical and neonatal outcomes appear to be influenced by the severity of maternal disease

    Dans le Sud-Ouest de Madagascar, la ville se fait plus proche mais la terre change de mains. (In Southwest Madagasacar, te city gets closer but land is changing hands)

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    If the links between Toliara and surrouding villages -on the coast and inside -have intensified and seem to offer new opportunities for development, land conflicts are increasing with rural areas changes.Si l'intensification des liens entre la ville de Toliara et les campagnes alentours semble offrir de nouvelles opportunités de développement, les recompositions socio-spatiales qui en résultent sont en revanche porteuses de tensions fonciÚres croissantes.Thibaud B. Dans le Sud-Ouest de Madagascar, la ville se fait plus proche mais la terre change de mains. (In Southwest Madagasacar, te city gets closer but land is changing hands). In: Bulletin de l'Association de géographes français, 89e année, 2012-3. Terres et tensions en Afrique, sous la direction de F. Bart. pp. 452-463

    Le pays dogon au Mali : de l’enclavement à l’ouverture?

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    L’installation du peuple dogon sur le plateau de Bandiagara au Mali, a permis pendant longtemps de se protĂ©ger des dangers des plaines environnantes. L’enclavement a favorisĂ© le dĂ©veloppement d’une identitĂ© culturelle forte et a contribuĂ© Ă  la mise en place de pratiques agricoles intensives. Aujourd’hui, l’expansion agricole dans les plaines, les migrations plus ou moins lointaines et l’ouverture du lieu originel au tourisme sont des facteurs de changements importants.Installation of the Dogon people on the Bandiagara plateau permitted, during a long time, to protect them from the dangers of the surrounding plain. The enclosement favoured the development of a strong cultural identity and contributed to intensive agricultural practices. Today, agricultural expansion in the plains, near and far migrations, and the opening of original place for tourism are factors of important changes

    PEASANTRY AND PATRIMONIALIZATION IN THE GLOBAL SOUTH RESOURCES, CONFLICTS, ARRANGEMENTS

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    Les campagnes des Suds sont marquĂ©es par des logiques de mise en patrimoine qui modifient profondĂ©ment les rapports entretenus entre les paysanneries et leurs supports de production traditionnels. Certaines ressources sont tout particuliĂšrement concernĂ©es par un processus de requalificationenvironnementale des territoires ruraux et agricoles. Le renouvellement des systĂšmes de production et les recompositions territoriales qui en rĂ©sultent rendent compte, dans un contexte Ă©conomique devenu mondialisĂ©, d’enjeux contemporains en matiĂšre de dĂ©veloppement

    Paysanneries et patrimonialisation dans les Suds : ressources, conflits, arrangements

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    International audienceLes campagnes des Suds sont marquĂ©es par des logiques de mise en patrimoine qui modifient profondĂ©ment les rapports entretenus entre les paysanneries et leurs supports de production traditionnels. Certaines ressources sont tout particuliĂšrement concernĂ©es par un processus de requalificationenvironnementale des territoires ruraux et agricoles. Le renouvellement des systĂšmes de production et les recompositions territoriales qui en rĂ©sultent rendent compte, dans un contexte Ă©conomique devenu mondialisĂ©, d’enjeux contemporains en matiĂšre de dĂ©veloppement
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