PISCO2: the new speckle camera of the Nice 76-cm refractor

We present the new speckle camera PISCO2 made in 2010-2012, for the 76-cm refractor of C\^ote d'Azur Observatory. It is a focal instrument dedicated to the observation of visual binary stars using high angular resolution speckle interferometry techniques to partly overcome the degradation caused by the atmospheric turbulence. Fitted with an EMCCD detector, PISCO2 allows the acquisition of short exposure images that are processed in real time by our specially designed software. Two Risley prisms are used for correcting the atmospheric dispersion. All optical settings are remotely controlled. We have already been able to observe faint, close binary stars with angular separations as small as 0".16, and visual magnitudes of about 16. We also have measured some particularly difficult systems with a magnitude difference between the two components of about 4 magnitudes. This level of performance is very promising for the detection and study of large sets of yet unknown (or partly measured) binaries with close separation and/or large magnitude difference.Comment: 13 pages, 12 figure

Eight previously unidentified mutations found in the OA1 ocular albinism gene

BACKGROUND: Ocular albinism type 1 (OA1) is an X-linked ocular disorder characterized by a severe reduction in visual acuity, nystagmus, hypopigmentation of the retinal pigmented epithelium, foveal hypoplasia, macromelanosomes in pigmented skin and eye cells, and misrouting of the optical tracts. This disease is primarily caused by mutations in the OA1 gene. METHODS: The ophthalmologic phenotype of the patients and their family members was characterized. We screened for mutations in the OA1 gene by direct sequencing of the nine PCR-amplified exons, and for genomic deletions by PCR-amplification of large DNA fragments. RESULTS: We sequenced the nine exons of the OA1 gene in 72 individuals and found ten different mutations in seven unrelated families and three sporadic cases. The ten mutations include an amino acid substitution and a premature stop codon previously reported by our team, and eight previously unidentified mutations: three amino acid substitutions, a duplication, a deletion, an insertion and two splice-site mutations. The use of a novel Taq polymerase enabled us to amplify large genomic fragments covering the OA1 gene. and to detect very likely six distinct large deletions. Furthermore, we were able to confirm that there was no deletion in twenty one patients where no mutation had been found. CONCLUSION: The identified mutations affect highly conserved amino acids, cause frameshifts or alternative splicing, thus affecting folding of the OA1 G protein coupled receptor, interactions of OA1 with its G protein and/or binding with its ligand

Effects of eight neuropsychiatric copy number variants on human brain structure

peer reviewedMany copy number variants (CNVs) confer risk for the same range of neurodevelopmental symptoms and psychiatric conditions including autism and schizophrenia. Yet, to date neuroimaging studies have typically been carried out one mutation at a time, showing that CNVs have large effects on brain anatomy. Here, we aimed to characterize and quantify the distinct brain morphometry effects and latent dimensions across 8 neuropsychiatric CNVs. We analyzed T1-weighted MRI data from clinically and non-clinically ascertained CNV carriers (deletion/duplication) at the 1q21.1 (n = 39/28), 16p11.2 (n = 87/78), 22q11.2 (n = 75/30), and 15q11.2 (n = 72/76) loci as well as 1296 non-carriers (controls). Case-control contrasts of all examined genomic loci demonstrated effects on brain anatomy, with deletions and duplications showing mirror effects at the global and regional levels. Although CNVs mainly showed distinct brain patterns, principal component analysis (PCA) loaded subsets of CNVs on two latent brain dimensions, which explained 32 and 29% of the variance of the 8 Cohen’s d maps. The cingulate gyrus, insula, supplementary motor cortex, and cerebellum were identified by PCA and multi-view pattern learning as top regions contributing to latent dimension shared across subsets of CNVs. The large proportion of distinct CNV effects on brain morphology may explain the small neuroimaging effect sizes reported in polygenic psychiatric conditions. Nevertheless, latent gene brain morphology dimensions will help subgroup the rapidly expanding landscape of neuropsychiatric variants and dissect the heterogeneity of idiopathic conditions. © 2021, The Author(s)

Effects of eight neuropsychiatric copy number variants on human brain structure

Many copy number variants (CNVs) confer risk for the same range of neurodevelopmental symptoms and psychiatric conditions including autism and schizophrenia. Yet, to date neuroimaging studies have typically been carried out one mutation at a time, showing that CNVs have large effects on brain anatomy. Here, we aimed to characterize and quantify the distinct brain morphometry effects and latent dimensions across 8 neuropsychiatric CNVs. We analyzed T1-weighted MRI data from clinically and non-clinically ascertained CNV carriers (deletion/duplication) at the 1q21.1 (n = 39/28), 16p11.2 (n = 87/78), 22q11.2 (n = 75/30), and 15q11.2 (n = 72/76) loci as well as 1296 non-carriers (controls). Case-control contrasts of all examined genomic loci demonstrated effects on brain anatomy, with deletions and duplications showing mirror effects at the global and regional levels. Although CNVs mainly showed distinct brain patterns, principal component analysis (PCA) loaded subsets of CNVs on two latent brain dimensions, which explained 32 and 29% of the variance of the 8 Cohen’s d maps. The cingulate gyrus, insula, supplementary motor cortex, and cerebellum were identified by PCA and multi-view pattern learning as top regions contributing to latent dimension shared across subsets of CNVs. The large proportion of distinct CNV effects on brain morphology may explain the small neuroimaging effect sizes reported in polygenic psychiatric conditions. Nevertheless, latent gene brain morphology dimensions will help subgroup the rapidly expanding landscape of neuropsychiatric variants and dissect the heterogeneity of idiopathic conditions

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

Background Huntington's disease is caused by a CAG repeat expansion in the huntingtin gene, HTT. Age at onset has been used as a quantitative phenotype in genetic analysis looking for Huntington's disease modifiers, but is hard to define and not always available. Therefore, we aimed to generate a novel measure of disease progression and to identify genetic markers associated with this progression measure. Methods We generated a progression score on the basis of principal component analysis of prospectively acquired longitudinal changes in motor, cognitive, and imaging measures in the 218 indivduals in the TRACK-HD cohort of Huntington's disease gene mutation carriers (data collected 2008–11). We generated a parallel progression score using data from 1773 previously genotyped participants from the European Huntington's Disease Network REGISTRY study of Huntington's disease mutation carriers (data collected 2003–13). We did a genome-wide association analyses in terms of progression for 216 TRACK-HD participants and 1773 REGISTRY participants, then a meta-analysis of these results was undertaken. Findings Longitudinal motor, cognitive, and imaging scores were correlated with each other in TRACK-HD participants, justifying use of a single, cross-domain measure of disease progression in both studies. The TRACK-HD and REGISTRY progression measures were correlated with each other (r=0·674), and with age at onset (TRACK-HD, r=0·315; REGISTRY, r=0·234). The meta-analysis of progression in TRACK-HD and REGISTRY gave a genome-wide significant signal (p=1·12 × 10−10) on chromosome 5 spanning three genes: MSH3, DHFR, and MTRNR2L2. The genes in this locus were associated with progression in TRACK-HD (MSH3 p=2·94 × 10−8 DHFR p=8·37 × 10−7 MTRNR2L2 p=2·15 × 10−9) and to a lesser extent in REGISTRY (MSH3 p=9·36 × 10−4 DHFR p=8·45 × 10−4 MTRNR2L2 p=1·20 × 10−3). The lead single nucleotide polymorphism (SNP) in TRACK-HD (rs557874766) was genome-wide significant in the meta-analysis (p=1·58 × 10−8), and encodes an aminoacid change (Pro67Ala) in MSH3. In TRACK-HD, each copy of the minor allele at this SNP was associated with a 0·4 units per year (95% CI 0·16–0·66) reduction in the rate of change of the Unified Huntington's Disease Rating Scale (UHDRS) Total Motor Score, and a reduction of 0·12 units per year (95% CI 0·06–0·18) in the rate of change of UHDRS Total Functional Capacity score. These associations remained significant after adjusting for age of onset. Interpretation The multidomain progression measure in TRACK-HD was associated with a functional variant that was genome-wide significant in our meta-analysis. The association in only 216 participants implies that the progression measure is a sensitive reflection of disease burden, that the effect size at this locus is large, or both. Knockout of Msh3 reduces somatic expansion in Huntington's disease mouse models, suggesting this mechanism as an area for future therapeutic investigation

Mesure des nuisances olfactives associées à l'élevage porcin

National audienceThis paper summarises the contribution of the "Porcherie verte" programme in the development of methods that measure olfactory nuisance. Indeed, for the public, olfactory nuisance is associated with pig breeding and is a limiting factor to its development. Two approaches, one sensorial and the other instrumental, were used conjointly. The sensorial approach was aimed at developing a method for appreciating piggery. odours that is at a different location (the jury does not have to be on the site), less difficult than the official method using diluted air samples and that considers the quality of the odours. Petri dishes containing lipid phases were exposed to the air in piggeries and were then submitted to olfactory approval by a jury of 10 people from the laboratory. The notes of the jury were is well correlated with the in situ olfactory appreciation of the person having taken the samples. The breeding situations are classified in the following decreasing order of intensity: post-weaning and fattening on wood slats > gestation on wood slats > litter. In order to correct for the inconvenience associated with the subjective character of sensorial analysis, in instrumental approach was used to develop a sampling method (solid phase micro extraction) and analysis of volatile components entrapped in the solid phase (mass spectrometry). The spectra obtained allow the differentiation of the breeding situations as explained above and satisfactorily predict (R(2)=0.92) the results of the olfactory appreciation of a jury from the laboratory. The methodological improvements made within the framework of this study show that it is possible to measure and characterise odours from piggeries in a very simple and rapid way. However, these methods have only been tested on relatively concentrated air inside piggeries. Their validity for outside air remains to be shown.Cet article résume les apports du programme « Porcherie verte » dans le développement de méthodes de mesure des nuisances olfactives qui, dans l’esprit du public, sont fortement associées à l’élevage porcin et constituent un facteur limitant essentiel à son développement. Deux approches, l’une sensorielle, l’autre instrumentale, ont été utilisées conjointement. L’approche sensorielle visait à mettre au point une méthode d’appréciation des odeurs de porcherie qui soit délocalisée (le jury n’a pas besoin de se déplacer sur les lieux), moins lourde que la méthode officielle par dilution d’échantillons d’atmosphères et qui prenne en compte la dimension qualitative des odeurs. Des boîtes de Petri remplies de phase lipidique ont été exposées à l’atmosphère ambiante de porcheries et soumises à une appréciation olfactive par un jury de 10 personnes en laboratoire. Les notations du jury sont bien corrélées à l’appréciation olfactive in situ par la personne ayant réalisé les prélèvements et discriminent bien les situations d’élevage dans l’ordre décroissant d’intensité d’odeurs suivant : post-sevrage et engraissement sur caillebotis > maternité sur caillebotis > litières. Pour pallier les inconvénients liés au caractère subjectif de l’appréciation sensorielle, l’approche instrumentale visait à mettre au point une méthode de prélèvement (Micro Extraction en Phase Solide) et d’analyse des composés volatils piégés sur la phase solide (Spectrométrie de Masse). Les signatures spectrales obtenues permettent de différencier les situations d’élevage comme exposé précédemment et de prédire de façon satisfaisante (R2 = 0,92) les résultats de l’appréciation olfactive par le jury de laboratoire. Les avancées méthodologiques obtenues dans le cadre de ce travail semblent ouvrir la voie à la possibilité de mesurer et caractériser les odeurs de porcherie de façon simple et rapide. Ces méthodes n’ont cependant été testées que pour des atmosphères relativement concentrées à l’intérieur des porcheries. Leur validité pour caractériser des atmosphères extérieures reste à établir

Concentrations sériques des sous-classes d'IgG chez l'enfant normal. Évaluation par méthode immunoenzymatique à l'aide d'anticorps monoclonaux.

International audienceSerum IgG subclass levels were measured by an immunoenzymatic assay with monoclonal antibodies in 225 normal children aged 1 to 17 years. Adult concentrations of IgG1 and IgG3 were reached early (2 to 3 years of age), with mean IgG1 level slightly higher in children than in adults, whereas IgG2 and IgG4 showed a slow increase. Mean IgG2 levels in children aged 13 to 17 were still significantly lower than in adults. The distribution of IgG4 levels in every age group was very heterogeneous, with a fair incidence of subthreshold concentrations especially before 5 years of age. These data must be taken into account when defining IgG subclass deficiencies in children.Les concentrations sériques des IgG des 4 sous-classes ont été mesurées à l'aide d'une méthode immunoenzymatique utilisant des anticorps monoclonaux chez 225 enfants normaux âgés de 1 à 17 ans. Les taux d'IgG1 et d'IgG3 de l'adulte sont atteints tôt (dès 2 à 3 ans), le taux moyen d'IgG1 étant légèrement plus élevé chez l'enfant que chez l'adulte. En revanche, les IgG2 et IgG4 augmentent très progressivement et la concentration moyenne des IgG2 d'enfants âgés de 13 à 17 ans est encore inférieure à celle des adultes. Certains enfants normaux ont des taux sériques bas d'IgG2. La distribution des taux d'IgG4 à l'intérieur de chaque groupe d'âge est remarquablement hétérogène, avec une fréquence notable de valeurs inférieures au deuil de détection, surtout avant 5 ans. Ces données sont importantes pour définir les déficits en sous-classes d'IgG chez l'enfant

Approach to improving the toughness of TGMDA/DDS epoxy resin by blending with thermoplastic polymer powders

International audienceA series of hot-melt processable thermosetting compositions was prepared by blending N,N,N′,N′-tetraglycidyl-4,4′ -diaminodiphenyl-methane/4,4′-diaminodiphenylsulfone (TGMDA/DDS) epoxy resin and thermoplastic polymer powders with average particle size below 30 μm. The basic thermoplastic polymers were either a high Tg amorphous cardo polyimide (Tg=350°C) or commercial semicrystalline PA6 and PA12 polyamides. The resulting heterogeneous mixtures showed viscosity values below 5000 cps suitable for prepregging process. After cure, phase-separated morphologies were maintained with a rather limited interphase miscibility as demonstrated by thermomechanical analysis. Scanning electron microscope examination of fracture surfaces pointed out a strong adhesion between the powder particles and the surrounding polyepoxy network, particularly for the potentially reactive polyamide structures. Moreover, as shown by differential scanning calorimeter analysis, the crystallinity ratio of the PA6 and PA12 powders was lowered due to melting during thermal polymerization. The fracture toughness properties of the powder-containing materials were compared with those of a fully miscible cardo polyimide–TGMDA/DDS blend coming from an homogeneous resin composition. The best improvement in fracture energy was obtained for the powder-modified resins. The most effective composition filled with 16 wt% of powdered polyimide exhibited a fourfold increase in GIC (388 J/m2 versus 100 J/m2) without compromising the epoxy thermomechanical stability (Tg=227°C versus 223°C