L’hôtel de ville de Lille : architecture et représentation du pouvoir (1424-1593)

La maison commune des bourgeois est une maison noble, à titre de collectivité. La composition de sa façade, sa monumentalité et la richesse de son décor intérieur concourent à illustrer le caractère noble de l’hôtel de ville. La façade fait œuvre de représentation, elle illustre l’institution échevinale. Le cas de l’hôtel de ville de Lille est relativement bien documenté, les comptes des travaux réalisés sur ses façades en 1424 et 1593 étant conservés aux archives municipales de Lille. Les re..

Déchiffrer la Société Géologique du Nord en escaladant les rayons de sa bibliothèque : histoire et analyse du fonds documentaire

International audienceThe creation of the Société Géologique du Nord’s library is concomitant with the foundation of the society itself in 1870 and reflects its history, which is closely linked to that of the University of Lille. Library rules and organization, buildings and equipment, classification and cataloguing of documents: the archives provide us with a wealth of information on the day-to-day life of a learned society library and allow us to investigate the way in which this rich collection has been built up over the last 150 years, within an extraordinarily vibrant international network. Corresponding and associate members, relative learned societies have made it possible to build up an exceptional collection of documents through the exchange of publications: journals and periodicals focusing on geology, paleontology and the natural sciences from all over the world, books, -almost a quarter of which are not held in any other French university library-, brochures and manuscripts, the majority of which still have to be described and digitized. A full statistic survey analyses this collection both in its geographical and chronological aspects. Today, this collection, deposited and then donated to the University Library of Lille, is a jewel of the university heritage and still conceals many discoveries to come.La création de la bibliothèque de la SGN est concomitante de la fondation de la société en 1870 et reflète son histoire, étroitement mêlée à celle de l’Université de Lille. Règlement et fonctionnement pratique, locaux et aménagements, classement et catalogage des documents : les archives nous fournissent une mine d’informations sur le quotidien d’une bibliothèque de société savante et nous permettent d’investiguer la manière dont cette riche collection s’est constituée au fil des 150 dernières années, au sein d’un réseau international d’une extraordinaire vivacité. Membres correspondants et associés, sociétés savantes amies ont permis de construire par échanges de publications un ensemble documentaire exceptionnel : revues et périodiques de géologie, paléontologie et sciences naturelles provenant de tous les pays, ouvrages - dont près d’un quart ne sont conservés dans aucune autre bibliothèque universitaire française -, brochures et manuscrits, enfin, dont la plus grande partie reste à décrire et numériser. Une étude statistique complète permet d’analyser cette collection de manière géographique et chronologique. Aujourd’hui, ce fonds, déposé puis donné à la Bibliothèque Universitaire de Lille, est un fleuron du patrimoine universitaire et recèle encore bien des découvertes à venir

Léon de Rosny 1837-1914

Ethnologue, premier japonologue en France, sinologue, mayaniste, spécialiste des religions orientales et épisté­mologue, Rosny est un découvreur, un véritable pionnier de ces sciences dans la seconde moitié du xixe siècle. C'est également un travailleur infatigable, boulimique de connaissances et un « entreprenant  » impénitent. Hors cursus classique, il se construit une remarquable éducation éclectique. Dès l’enfance, il manifeste une extraordinaire capacité d’assimilation, démontrée plus tard par sa maîtrise de plus d’une quinzaine de langues et de leurs civilisations. Chercheur et philologue, il sera aussi professeur, traducteur, interprète, journaliste, photographe, dessi­nateur, éditeur, imprimeur et… relieur. Admiré même s’il est controversé, reconnu au cœur d’un réseau international de savants, Rosny a toujours eu la passion de transmettre ses idées, ses savoirs et ceux de ses contemporains. Cent ans après sa mort, ce sont cet itinéraire rare et cette œuvre surprenante qu’il nous est donné de découvrir, mettre en perspective et approfondir

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

International audienceThe increasing use of array-CGH in malformation syndromes with intellectual disability could lead to the description of new contiguous gene syndrome by the analysis of the gene content of the microdeletion and reverse phenotyping. Thanks to a national and international call for collaboration by Achropuce and Decipher, we recruited four patients carrying de novo overlapping deletions of chromosome 9q33.3q34.11, including the STXBP1, the LMX1B and the ENG genes. We restrained the selection to these three genes because the effects of their haploinsufficency are well described in the literature and easily recognizable clinically. All deletions were detected by array-CGH and confirmed by FISH. The patients display common clinical features, including intellectual disability with epilepsy, owing to the presence of STXBP1 within the deletion, nail dysplasia and bone malformations, in particular patellar abnormalities attributed to LMX1B deletion, epistaxis and cutaneousmucous telangiectasias explained by ENG haploinsufficiency and common facial dysmorphism. This systematic analysis of the genes comprised in the deletion allowed us to identify genes whose haploinsufficiency is expected to lead to disease manifestations and complications that require personalized follow-up, in particular for renal, eye, ear, vascular and neurological manifestations

Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum

International audienceOtopalatodigital spectrum disorders (OPDSD) constitute a group of dominant X-linked osteochondrodysplasias including four syndromes: otopalatodigital syndromes type 1 and type 2 (OPD1 and OPD2), frontometaphyseal dysplasia, and Melnick-Needles syndrome. These syndromes variably associate specific facial and extremities features, hearing loss, cleft palate, skeletal dysplasia and several malformations, and show important clinical overlap over the different entities. FLNA gain-of-function mutations were identified in these conditions. FLNA encodes filamin A, a scaffolding actin-binding protein. Here, we report phenotypic descriptions and molecular results of FLNA analysis in a large series of 27 probands hypothesized to be affected by OPDSD. We identified 11 different missense mutations in 15 unrelated probands (n=15/27, 56%), of which seven were novel, including one of unknown significance. Segregation analyses within families made possible investigating 20 additional relatives carrying a mutation. This series allows refining the phenotypic and mutational spectrum of FLNA mutations causing OPDSD, and providing suggestions to avoid the overdiagnosis of OPD1

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

Subtelomeric 1q43q44 microdeletions cause a syndrome associating intellectual disability, microcephaly, seizures and anomalies of the corpus callosum. Despite several previous studies assessing genotype-phenotype correlations, the contribution of genes located in this region to the specific features of this syndrome remains uncertain. Among those, three genes, AKT3, HNRNPU and ZBTB18 are highly expressed in the brain and point mutations in these genes have been recently identified in children with neurodevelopmental phenotypes. In this study, we report the clinical and molecular data from 17 patients with 1q43q44 microdeletions, four with ZBTB18 mutations and seven with HNRNPU mutations, and review additional data from 37 previously published patients with 1q43q44 microdeletions. We compare clinical data of patients with 1q43q44 microdeletions with those of patients with point mutations in HNRNPU and ZBTB18 to assess the contribution of each gene as well as the possibility of epistasis between genes. Our study demonstrates that AKT3 haploinsufficiency is the main driver for microcephaly, whereas HNRNPU alteration mostly drives epilepsy and determines the degree of intellectual disability. ZBTB18 deletions or mutations are associated with variable corpus callosum anomalies with an incomplete penetrance. ZBTB18 may also contribute to microcephaly and HNRNPU to thin corpus callosum, but with a lower penetrance. Co-deletion of contiguous genes has additive effects. Our results confirm and refine the complex genotype-phenotype correlations existing in the 1qter microdeletion syndrome and define more precisely the neurodevelopmental phenotypes associated with genetic alterations of AKT3, ZBTB18 and HNRNPU in humans

Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients

International audienceXq28 duplications encompassing MECP2 have been described in male patients with a severe neurodevelopmental disorder associated with hypotonia and spasticity, severe learning disability, stereotyped movements, and recurrent pulmonary infections. We report on standardized brain magnetic resonance imaging (MRI) data of 30 affected patients carrying an Xq28 duplication involving MECP2 of various sizes (228 kb to 11.7 Mb). The aim of this study was to seek recurrent malformations and attempt to determine whether variations in imaging features could be explained by differences in the size of the duplications. We showed that 93% of patients had brain MRI abnormalities such as corpus callosum abnormalities (n = 20), reduced volume of the white matter (WM) (n = 12), ventricular dilatation (n = 9), abnormal increased hyperintensities on T2-weighted images involving posterior periventricular WM (n = 6), and vermis hypoplasia (n = 5). The occipitofrontal circumference varied considerably between \textgreater+2SD in five patients and \textless-2SD in four patients. Among the nine patients with dilatation of the lateral ventricles, six had a duplication involving L1CAM. The only patient harboring bilateral posterior subependymal nodular heterotopia also carried an FLNA gene duplication. We could not demonstrate a correlation between periventricular WM hyperintensities/delayed myelination and duplication of the IKBKG gene. We thus conclude that patients with an Xq28 duplication involving MECP2 share some similar but non-specific brain abnormalities. These imaging features, therefore, could not constitute a diagnostic clue. The genotype-phenotype correlation failed to demonstrate a relationship between the presence of nodular heterotopia, ventricular dilatation, WM abnormalities, and the presence of FLNA, L1CAM, or IKBKG, respectively, in the duplicated segment. © 2015 Wiley Periodicals, In