770 research outputs found

    La serie estratigråfica del Gallo-Vilo (prov. de Målaga, España)

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    El macizo del Gallo-Vilo presenta una serie estratigråfica que comprende términos desde el Lias basal al Oligo-Mioceno, con numerosas lagunas estratigråficas y transgresiones. Constituye una unidad estratigråfica de la Zona Subbética meridional; se indican las relaciones con las unidades vecinas

    Combining multivariate genomic approaches to elucidate the comorbidity between autism spectrum disorder and attention deficit hyperactivity disorder

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    BACKGROUND: Attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are two highly heritable neurodevelopmental disorders. Several lines of evidence point towards the presence of shared genetic factors underlying ASD and ADHD. We conducted genomic analyses of common risk variants (i.e. single nucleotide polymorphisms, SNPs) shared by ASD and ADHD, and those specific to each disorder. METHODS: With the summary data from two GWAS, one on ASD (N = 46,350) and another on ADHD (N = 55,374) individuals, we used genomic structural equation modelling and colocalization analysis to identify SNPs shared by ASD and ADHD and SNPs specific to each disorder. Functional genomic analyses were then conducted on shared and specific common genetic variants. Finally, we performed a bidirectional Mendelian randomization analysis to test whether the shared genetic risk between ASD and ADHD was interpretable in terms of reciprocal relationships between ASD and ADHD. RESULTS: We found that 37.5% of the SNPs associated with ASD (at p < 1e-6) colocalized with ADHD SNPs and that 19.6% of the SNPs associated with ADHD colocalized with ASD SNPs. We identified genes mapped to SNPs that are specific to ASD or ADHD and that are shared by ASD and ADHD, including two novel genes INSM1 and PAX1. Our bidirectional Mendelian randomization analyses indicated that the risk of ASD was associated with an increased risk of ADHD and vice versa. CONCLUSIONS: Using multivariate genomic analyses, the present study uncovers shared and specific genetic variants associated with ASD and ADHD. Further functional investigation of genes mapped to those shared variants may help identify pathophysiological pathways and new targets for treatment

    Effect of voxel size on the accuracy of 3D reconstructions with cone beam CT.

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    OBJECTIVES: The various types of cone beam CT (CBCT) differ in several technical characteristics, notably their spatial resolution, which is defined by the acquisition voxel size. However, data are still lacking on the effects of voxel size on the metric accuracy of three-dimensional (3D) reconstructions. This study was designed to assess the effect of isotropic voxel size on the 3D reconstruction accuracy and reproducibility of CBCT data. METHODS: The study sample comprised 70 teeth (from the Institut d\u27Anatomie Normale, Strasbourg, France). The teeth were scanned with a KODAK 9500 3DÂź CBCT (Carestream Health, Inc., Marne-la-VallĂ©e, France), which has two voxel sizes: 200 ”m (CBCT 200 ”m group) and 300 ”m (CBCT 300 ”m group). These teeth had also been scanned with the KODAK 9000 3DÂź CBCT (Carestream Health, Inc.) (CBCT 76 ”m group) and the SCANCO Medical micro-CT XtremeCT (SCANCO Medical, BrĂŒttisellen, Switzerland) (micro-CT 41 ”m group) considered as references. After semi-automatic segmentation with AMIRAÂź software (Visualization Sciences Group, Burlington, MA), tooth volumetric measurements were obtained. RESULTS: The Bland-Altman method showed no difference in tooth volumes despite a slight underestimation for the CBCT 200 ”m and 300 ”m groups compared with the two reference groups. The underestimation was statistically significant for the volumetric measurements of the CBCT 300 ”m group relative to the two reference groups (Passing-Bablok method). CONCLUSIONS: CBCT is not only a tool that helps in diagnosis and detection but it has the complementary advantage of being a measuring instrument, the accuracy of which appears connected to the size of the voxels. Future applications of such measurements with CBCT are discussed
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