Les dépôts quaternaires de la région de Chibougamau, Québec

Cette étude des dépôts quaternaires dans la région de Chibougamau a deux objectifs: 1) décrire les principaux traits de la géomorphologie et les caractères des unités lithostratigraphiques; 2) discuter quelques concepts de la paléogéographie tardiglaciaire. Deux directions majeures d'écoulement glaciaire sont identifiées : l'une, ancienne, vers le SE (125°) attribuée à un centre de dispersion localisé vers la baie d'Hudson, mais d'âge inconnu; l'autre vers le SSO causée par la dernière glaciation du Wisconsinien. Ce dernier mouvement est identifié par des formes fuselées (045-225°), des stries (035-215°) et par des débris erratiques provenant du bassin du lac Misstassini, au NE. Lors du retrait de l'inlandsis, dans le secteur ouest de la région, la bordure du glacier s'écoulait vers le SO et l'OSO, influencée par la présence du lac Ojibway : le mode dominant des orientations des segments d'eskers (055-235°) est interprété comme une preuve complémentaire de cet écoulement tardif; dans le secteur E, par contre, près de la ligne de partage des eaux, les marques d'écoulement vers le S sont abondantes. Une seule nappe de till de fond est identifiée. Une séquence de faciès de fusion (till stratifié et d'ablation) lui succède. Des déformations glaciotectoniques démontrent que la glace est active lors du dépôt des faciès stratifiés. Les contraintes exercées sur le front glaciaire par les reliefs et les eaux du lac Ojibway commandent un réseau de crevasses conjuguées à 25°: des moraines « mineures » (de De Geer?) de dimensions et d'espacements très variables y sont mises en place. Leur espacement ne peut être utilisé qu'avec prudence pour évaluer le taux de retrait glaciaire de cette région. Le niveau relatif supérieur du lac Ojibway est réévalué à environ 445 m. Une tourbe datée à 7600 BP (à 420 m) indique une afforestation rapide après l'exondation.This Quaternary deposits study has two purposes: 1) a description of the main géomorphologie features and the lithostratigraphic units; 2) a discussion of some concepts regarding the paleogeography during the late stage of the déglaciation. Two main glacial flow directions are identified : an early movement, of unknown age, towards the SE is assigned to a centre of dispersion located in the area of Hudson Bay; another movement, towards the SSW is attributed to the latest Wisconsinian pleniglacial. Evidence for the latter include fluting (045-225°), striae (035°-215°) and the numerous erratics derived from the Mistassini Basin to the NE. During the retreat of the last ice sheet on the west side of the area, the ice-margin was spreading to the SW and WSW, towards Lake Ojibway: the predominant mode of the esker segments trends (055°-235°) is interpreted as additional evidence of this late flow; on the other hand, near the water divide in the eastern area abundant flow marks are in a southerly direction. Only one lodgement till sheet is recognized. A melt-out till sequence (stratified and ablation tills) overlaps the former. GIaciotectonic deformations demonstrate that the ice was active during the deposition of the stratified faciès. The stress exerted on the glacial front by the bottom topography and waters of the Lake Ojibway induced a conjugate system of crevasses at 25°, where minor (or De Geer?) moraines were emplaced. These moraines are of variable sizes and spacings. The spacing must be used with caution when evaluating the rate of glacial retreat in this area. An altitude of 445 m is proposed for the upper relative level of Lake Ojibway. Organic deposits started to accumulate as early as 7,600 BP (at + 420 m) a short time after exundation.Diese Studie der Quartâr-Ablagerungen in der Gegend von Chibougamau hat zwei Ziele: (1) eine Beschreibung der wichtigsten Merkmale der Géomorphologie und der Eigenschaften der Gesteinsschichtungs-Einheiten und (2) die Erôrterung einiger Kronzepte der Palâogeographie der Spàteiszeit. Zwei glaziale Hauptstrômungs-Richtungen werden identifiziert: eine friihe Bewegung nach SO (125°), die einem Streuugszentrum im Gebiet der Hudson Bay zugeschrieben wird, deren Alter aber nicht bekannt ist; die andere nach SSW, verursacht durch die letzte Eiszeit des Wisconsin. Diese letzte Bewegung ist durch geriefelte Formen (045'-225°), Kritzen (035°-215°) und durch erratisches Gerôll gekennzeichnet, das vom Becken des Mistassini-Sees im NO stammt. Wàhrend des Rùckgangs des lnlandeises auf der Westseite des Gebiets ergofS sich der Rand des Gletschers nach SW und WSW, unterdem Einflufi des Ojibway-Sees: die dominierende Weise der Orientierung der Esker-Segmente (055°-235°) wird als ein zusàtzlicher Beweis dieses spâten Flie[5ens interpretiert ; auf der Ost-Seite dagegen nahe der Wasserscheide, gibt es zahlreiche Zeichen fur ein Fliejien nach Suden. Eine einzige Till-Ablagerungsschicht wird festgestellt. Ihr folgt eine Sequenz von Fusions-Faszies (Schicht- und Ablations-Till). Glaziotektonische Deformierungen zeigen, dap das Eis wàhrend der Ablagerung der Schicht-Fazies aktiv war. Der Druck, der durch die Reliefs und durch das Wasser des Ojibways-Sees auf die Eisfront ausgeubt wird, fiihrte zu einem Netz von Spalten, die miteinanderverbundensind, bei 250: "kleinere" (De Geer?) Morànen von sehr unterschiedlicher GroBe und Verteilung finden sich dort. Ihre Verteilung dart nur mit Vorsicht benutzt werden, urn den Grad des Eisrùckgangs in diesern Gebiet zu bestimmen.Das relative Hôchst-Niveau des Ojibways-Sees wird auf etwa 445 m veranschlagt. Torf, der auf 7600 v.u.Z. datiert wird (in 420m Hôhe), weist auf eine schnelle Bewaldung nach der Trockenlegung

Manifestations publiques au Québec entre 1964 et 1986, à travers le quotidien montréalais "Le Devoir"

Malgré la persistance et l'enracinement de la manifestation dans nos moeurs politiques, celle-ci n'a qu'exceptionnellement attiré l'attention des chercheurs en sciences sociales. Ceci est particulièrement vrai pour ce qui est de la manifestation au Québec. L'auteur a donc cherché à prendre la mesure du phénomène, au Québec, à partir du milieu des années 1960, jusqu'en 1986. Pour ce faire, une base de donnée composée des quatre cent quarante-neuf"manifs" couvertes par le quotidien montréalais Le Devoir durant la période a été constituée. Un traitement sériel et quantitatif a été appliqué à cette base de données, sans pour autant que ne soit ignoré l'aspect humain inhérent à la manifestation. La période 1964-1986 a été divisée en trois sous périodes correspondant chacune à des évolutions qui se sont produites à la fois dans la manifestation et la dans la société québécoise. L'examen de la base de donnée a aussi permis de confirmer les lieux de pouvoirs et la rue comme principaux lieux manifestants"--Résumé abrégé par UMI

Séquençage d’exomes d’une cohorte de familles caucasiennes simplex dont les patients sont atteints du syndrome d’interruption de la tige hypophysaire

Le syndrome d’interruption de la tige hypophysaire (PSIS) est un désordre rare qui affecte la fonction du système endocrinien. Jusqu’à nos jours, l’imagerie par la résonance magnétique (IRM) demeure la méthode la plus entreprise afin d’évaluer in vivo l’anomalie d’organogenèse de la tige hypophysaire chez les patients. L’absence de la tige caractérise une déficience permanente en hormone de croissance (GH) pendant que l’étiologie du syndrome demeure inconnue. PSIS se définit comme l’hypopituitarisme congénital et il se caractérise soit par une ectopique post- hypophysaire, soit par une hypoplasie antéhypophysaire, ou encore par une hypoplasie de la tige hypophysaire. Notre objectif consiste à déterminer les mutations génétiques partagées entre les sujets affectés de l’étude et qui pourraient expliquer les causes du syndrome. Pour y parvenir, nous avons analysé les données de séquençage d’exomes (WES) provenant de sept familles caucasiennes simplex, une famille d’origine arabique et cinq autres dont la généalogie est incomplète. Ces données ont été précédemment analysées, pour le même but, par d’autres membres de l’équipe en utilisant le pipeline bio-informatique standard basé sur l’utilisation du logiciel GATK. Nous avons préférentiellement opté pour une nouvelle analyse en utilisant deux différents pipelines bio-informatiques indépendants, pour ensuite comparer conjointement les résultats obtenus. Notre protocole consiste à assembler : d’abord, deux pipelines alternatifs de détection de mutations génétiques ponctuelles (SNV). Ils sont composés d’un logiciel d’alignement de séquence (Bowtie2) et deux logiciels d’appel de variantes (Freebayes et SAMtools). Ensuite, nous avons assemblé trois pipelines de détection de variations du nombre de copies (CNV) génomiques composés communément d’un logiciel d’alignement de séquence (BWA) et trois logiciels d’appel de CNV (CoNIFER, fishingCNV, xHmm). Nos résultats nous ont permis d’identifier des mutations candidates additionnelles qui n’ont jamais été identifiées. De plus, notre méthodologie nous a permis de caractériser certains résultats faux positifs, par conséquent elle pourra nous aider à améliorer la performance des pipelines de détection de variations génomiques existantes.Pituitary stalk interruption syndrome (PSIS) is a rare disorder that affects the function of the endocrine system of the affected individuals. The absence of the pituitary stalk, assessed by MRI, characterizes patients with permanent growth hormone deficiency while the etiology of the syndrome remains unknown. PSIS is defined by clinical hypopituitarism together with anatomical findings including a hypoplastic anterior pituitary, ectopic posterior pituitary and reduced or hypoplastic pituitary stalk. We aim to find shared variations (SNP, CNV) among affected patients in coding regions which could explain the origin of the syndrome. We analyzed the exome NGS data from 8 affected French Canadian trio families, with one additional consanguineous Arabic trio family and 5 families with incomplete pedigree. These data were previously analyzed, for the same objective, by other members of the team using a standardize GATK based bioinformatics pipeline. It was desired to reanalyze the complete data set with two other independent pipelines, followed by a comparison of the SNP discovery results. In the present aspect of the study, we built two SNP discovery pipelines, both composed of a different NGS data aligners (Bowtie2) and each composed a different variant caller (Freebayes, SAMtools), then a CNV discovery pipeline which is composed of three different CNV callers (CoNIFER, fishingCNV, xHmm). In addition to the candidate mutations identified in the previous analysis, we identified additional candidate mutations which had not been detected and never been reported. Furthermore, our method helps to discover the sources of variation false discovery which could help to improve existing genomic mutation discovery pipelines

In Vivo Anti-Diabetic Activity of the Ethanolic Crude Extract of Sorbus decora C.K.Schneid. (Rosacea): A Medicinal Plant Used by Canadian James Bay Cree Nations to Treat Symptoms Related to Diabetes

A number of potential anti-diabetic plants were identified through an ethnobotanical survey of the traditional pharmacopeia of the Cree of Eeyou Istchee (CEI—Northeastern Canada) used against symptoms of diabetes and their biological activity assessed by in vitro bioassays. Among these, Sorbus decora C.K.Schneid. (Rosacea) ranked highly and increased the transport of glucose in skeletal muscle cells in culture. The present study thus aimed at confirming the antidiabetic potential of S. decora in in vivo models of insulin resistance and diabetes, notably the streptozotocin Type 1 diabetic rat (STZ), the genetic KK-Ay Type 2 diabetic mouse and the rat rendered insulin resistant with 10% glucose water consumption for 6 weeks. Sorbus decora ethanolic crude extract (SDEE) was administered orally (200 mg kg−1) and compared to metformin (150 or 500 mg kg−1). The intragastric (i.g.) gavage of SDEE transiently decreased glycemia in STZ rats in a bi-phasic manner but the effect was cumulative over several days. In KK-Ay mice, SDEE incorporated in food (0.12%) decreased glycemia by 15% within 1 week as compared to vehicle controls. In pre-diabetic insulin-resistant rats, SDEE fed daily by i.g. gavage for 2 weeks significantly decreased the slight hyperglycemia and hyperinsulinemia, without affecting sugar water intake. Using the HOMA insulin resistance parameter, the effect of SDEE was equivalent to that of metformin. In conclusion, the ethanolic crude extract of S. decora demonstrates both anti-hyperglycemic and insulin-sensitizing activity in vivo, thereby confirming anti-diabetic potential and validating CEI traditional medicine

The In Vivo Antidiabetic Activity of Nigella sativa Is Mediated through Activation of the AMPK Pathway and Increased Muscle Glut4 Content

The antidiabetic effect of N. sativa seed ethanol extract (NSE) was assessed in Meriones shawi after development of diabetes. Meriones shawi were divided randomly into four groups: normal control, diabetic control, diabetic treated with NSE (2 g eq plant/kg) or with metformin (300 mg/kg) positive control, both administered by daily intragastric gavage for 4 weeks. Glycaemia and body weight were evaluated weekly. At study's end, an Oral Glucose Tolerance Test (OGTT) was performed to estimate insulin sensitivity. Upon sacrifice, plasma lipid profile, insulin, leptin, and adiponectin levels were assessed. ACC phosphorylation and Glut4 protein content were determined in liver and skeletal muscle. NSE animals showed a progressive normalization of glycaemia, albeit slower than that of metformin controls. Moreover, NSE increased insulinemia and HDL-cholesterol, compared to diabetic controls. Leptin and adiponectin were unchanged. NSE treatment decreased OGTT and tended to decrease liver and muscle triglyceride content. NSE stimulated muscle and liver ACC phosphorylation and increased muscle Glut4. These results confirm NSE's previously reported hypoglycaemic and hypolipidemic activity. More significantly, our data demonstrate that in vivo treatment with NSE exerts an insulin-sensitizing action by enhancing ACC phosphorylation, a major component of the insulin-independent AMPK signaling pathway, and by enhancing muscle Glut4 expression

A breathing zirconium metal-organic framework with reversible loss of crystallinity by correlated nanodomain formation

The isoreticular analogue of the metal-organic framework UiO-66(Zr), synthesized with the flexible trans-1,4-cyclohexanedicarboxylic acid as linker, shows a peculiar breathing behavior by reversibly losing long-range crystalline order upon evacuation. The underlying flexibility is attributed to a concerted conformational contraction of up to two thirds of the linkers, which breaks the local lattice symmetry. X-ray scattering data are described well by a nanodomain model in which differently oriented tetragonal-type distortions propagate over about 7-10 unit cells

Investigating the contributions of circadian pathway and insomnia risk genes to autism and sleep disturbances

Sleep disturbance is prevalent in youth with Autism Spectrum Disorder (ASD). Researchers have posited that circadian dysfunction may contribute to sleep problems or exacerbate ASD symptomatology. However, there is limited genetic evidence of this. It is also unclear how insomnia risk genes identified through GWAS in general populations are related to ASD and common sleep problems like insomnia traits in ASD. We investigated the contribution of copy number variants (CNVs) encompassing circadian pathway genes and insomnia risk genes to ASD risk as well as sleep disturbances in children with ASD. We studied 5860 ASD probands and 2092 unaffected siblings from the Simons Simplex Collection (SSC) and MSSNG database, as well as 7509 individuals from two unselected populations (IMAGEN and Generation Scotland). Sleep duration and insomnia symptoms were parent reported for SSC probands. We identified 335 and 616 rare CNVs encompassing circadian and insomnia risk genes respectively. Deletions and duplications with circadian genes were overrepresented in ASD probands compared to siblings and unselected controls. For insomnia-risk genes, deletions (not duplications) were associated with ASD in both cohorts. Results remained significant after adjusting for cognitive ability. CNVs containing circadian pathway and insomnia risk genes showed a stronger association with ASD, compared to CNVs containing other genes. Circadian genes did not influence sleep duration or insomnia traits in ASD. Insomnia risk genes intolerant to haploinsufficiency increased risk for insomnia when duplicated. CNVs encompassing circadian and insomnia risk genes increase ASD liability with little to no observable impacts on sleep disturbances

The genetics-BIDS extension: Easing the search for genetic data associated with human brain imaging

Metadata are what makes databases searchable. Without them, researchers would have difficulty finding data with features they are interested in. Brain imaging genetics is at the intersection of two disciplines, each with dedicated dictionaries and ontologies facilitating data search and analysis. Here, we present the genetics Brain Imaging Data Structure extension, consisting of metadata files for human brain imaging data to which they are linked, and describe succinctly the genomic and transcriptomic data associated with them, which may be in different databases. This extension will facilitate identifying micro-scale molecular features that are linked to macro-scale imaging repositories, facilitating data aggregation across studies

Genetic determination of the effect of post-translational modification on the innate immune response to the 19 kDa lipoprotein of Mycobacterium tuberculosis

<p>Abstract</p> <p>Background</p> <p>The 19 kDa lipoprotein of <it>Mycobacterium tuberculosis </it>(MTB) is an important target of the innate immune response. To investigate the effect of post-translation modification of this protein on innate recognition in the context of the whole bacillus, we derived a recombinant <it>M. tuberculosis </it>H37Rv that lacked the 19 kDa gene (Δ19) and complemented this strain by reintroduction of the 19 kDa gene into the chromosome as a single copy to produce Δ19::19. We also reintroduced the 19 kDa gene in two modified forms that lacked motifs for acylation (Δ19::19NA) and <it>O</it>-glycosylation (Δ19::19NOG).</p> <p>Results</p> <p>Both acylation and <it>O</it>-glycosylation were necessary for the protein to remain within the cell. IL-1 Beta secretion from human monocytes was significantly reduced by deletion of the 19 kDa gene (p < 0.02). Complementation by the wild type, but not the mutagenised gene reversed this phenotype. The effect of deletion and complementation on IL-12p40 and TNF secretion was less marked with no statistically significant differences between strains. Although deletion of the 19 kDa reduced apoptosis, an effect that could also only be reversed by complementation with the wild type gene, the results were variable between donors and did not achieve statistical significance.</p> <p>Conclusion</p> <p>These results confirm in the context of the whole bacillus an important role for post-translational modification of the 19 kDa on both the cellular location and immune response to this protein.</p

Generation of three induced pluripotent stem cell lines (UQACi003-A, UQACi004-A, and UQACi006-A) from three patients with KRT5 epidermolysis bullosa simplex mutations

Heterozygous mutations within Keratin 5 (KRT5) are common genetic causes of epidermolysis bullosa simplex (EBS), a skin fragility disorder characterized by blisters, which appear after minor trauma. Using CytoTune®Sendai virus, we generated three human induced pluripotent stem cell (iPSC) lines from three EBS patients carrying respectively the single heterozygous mutations in KRT5, c.449 T > C, c.980 T > C, and c.608 T > C. All lines display normal karyotype, expressed high levels of pluripotent markers, and can differentiate into derivatives of the three germ layers. These iPSCs are helpful for a better understanding of the EBS pathogenesis and developing novel therapeutic approaches