A PNPLA8 frameshift variant in Australian shepherd dogs with hereditary ataxia

Hereditary ataxias are common among canine breeds with various molecular etiology. We identified a hereditary ataxia in young‐adult Australian Shepherd dogs characterized by uncoordinated movements and spasticity, worsening progressively and leading to inability to walk. Pedigree analysis suggested an autosomal recessive transmission. By whole genome sequencing and variant filtering of an affected dog we identified a PNPLA8:c.1169_1170dupTT variant. This variant, located in PNPLA8 (Patatin Like Phospholipase Domain Containing 8), was predicted to induce a PNPLA8:p.(His391PhefsTer394) frameshift, leading to a premature stop codon in the protein. The truncated protein was predicted to lack the functional patatin catalytic domain of PNPLA8, a calcium‐independent phospholipase. PNPLA8 is known to be essential for maintaining mitochondrial energy production through tailoring mitochondrial membrane lipid metabolism and composition. The Australian Shepherd ataxia shares molecular and clinical features with Weaver syndrome in cattle and the mitochondrial‐related neurodegeneration associated with PNPLA8 loss‐of‐function variants in humans. By genotyping a cohort of 85 control Australian Shepherd dogs sampled in France, we found a 4.7% carrier frequency. The PNPLA8:c.[1169_1170dupTT] allele is easily detectable with a genetic test to avoid at‐risk matings

Importance relative du fer et de l'aluminimum dans les sols sableux des landes de Gascogne

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Etude de la composition de la matière organique de paléosols sahariens; interprétation et conséquences pour l'héritage organique des sols

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Les sols d'altitude du Pays Basque. Caractères et possibilités d'amélioration

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Premiers résultats de mesure d'âge de la matière organique de l'horizon d'accumulation des podzols humiques développés sur le sable des Landes

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Paille et fertilité des sols. Point sur les travaux réalisés en France

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Exploration des pratiques de littératie en milieu familial et portrait démolinguistique d’élèves immigrants allophones nouvellement arrivés en situation de grand retard scolaire au Québec

As in most metropolises throughout the world, the influx of migrants has completely altered the look of schools in Quebec’s larger cities. Among the immigrant children recently registered in Quebec schools, a number had not previously received or completed regular schooling. The case of pupils in a delayed schooling situation is still a misunderstood reality: we know little about them, especially their literacy development. However, in Quebec, successful reading acquisition in French as a second language is a sine qua non condition to school achievement and, therefore, represents a major challenge for these learners. It thus seems important to gather data on delayed schooling learners so as to enhance our knowledge of them and of their parents, and better understand home literacy practices and other demolinguistic variables related to success in reading acquisition. The objectives of this exploratory study are to trace a demolinguistic portrait of the parents and the children in such a situation; to present a synthesis of the declared literacy practices of these immigrant pupils; and to complete the portrait by exposing, in an exploratory fashion, the expectations and the perceptions of these parents towards schooling. The study was based on a questionnaire which was completed by 10 parents of pupils in a delayed school situation, and by 72 parents of regular allophone pupils recently registered in the primary or secondary level.Comme on a pu l’observer dans la plupart des métropoles à travers le monde, les flux migratoires ont transformé le visage des écoles des grandes villes québécoises. Parmi les élèves immigrants nouvellement inscrits dans les écoles québécoises se trouvent des apprenants qui n’ont pas bénéficié, dans leur pays d’origine, d’une scolarisation complète et régulière. Le cas de ces élèves en situation de grand retard scolaire est encore une réalité méconnue; nous possédons peu d’informations à leur sujet, en particulier en ce qui concerne leur appropriation de la littératie. Pourtant, l’apprentissage réussi de la lecture en français langue seconde, qui constitue une condition sine qua non de la réussite scolaire, représente un défi de taille pour ces apprenants. Il apparaît donc pertinent de recueillir des données qui permettront de mieux connaître ces élèves et leurs parents et de mieux comprendre certains facteurs en lien avec la réussite de l’apprentissage de la lecture, soit les pratiques de littératie en milieu familial ainsi que différentes variables démolinguistiques. Les objectifs de la présente étude exploratoire, réalisée au moyen d’un questionnaire auquel ont répondu 10 parents d’élèves sous-scolarisés et 72 parents d’élèves réguliers allophones immigrants nouvellement arrivés au primaire et au secondaire, consistent donc à tracer un portrait démolinguistique des parents et des enfants, à présenter une synthèse des pratiques déclarées de littératie de ces élèves immigrants, et enfin, de façon exploratoire, à compléter ce portrait en exposant les attentes et les perceptions des parents face à l’école

Les desordres nutritionnels des especes prairiales.

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Exploration des pratiques de litteratie en milieu ´ familial et portrait demolinguistique d’ ´ el´ eves ` immigrants allophones nouvellement arrives en ´ situation de grand retard scolaire au Quebec

Abstract As in most metropolises throughout the world, the influx of migrants has completely altered the look of schools in Quebec’s larger cities. Among the immigrant children recently registered in Quebec schools, a number had not previously received or completed regular schooling. The case of pupils in a delayed schooling situation is still a misunderstood reality: we know little about them, especially their literacy development. However, in Quebec, successful reading acquisition in French as a second language is a sine qua non condition to school achievement and, therefore, represents a major challenge for these learners. It thus seems important to gather data on delayed schooling learners so as to enhance our knowledge of them and of their parents, and better understand home literacy practices and other demolinguistic variables related to success in reading acquisition. The objectives of this exploratory study are to trace a demolinguistic portrait of the parents and the children in such a situation; to present a synthesis of the declared literacy practices of these immigrant pupils; and to complete the portrait by exposing, in an exploratory fashion, the expectations and the perceptions of these parents towards schooling. The study was based on a questionnaire which was completed by 10 parents of pupils in a delayed school situation, and by 72 parents of regular allophone pupils recently registered in the primary or secondary level