97 research outputs found
Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts
Congenital cataracts are a major cause of bilateral visual impairment in childhood. We mapped the gene responsible for autosomal congenital cerulean cataracts to chromosome 2q33-35 in a four generation family of Moroccan descent. The maximum lod score (7.19 at recombination fraction theta=0) was obtained for marker D2S2208 near the g-crystallin gene (CRYG) cluster. Sequencing of the coding regions of the CRYGA, B, C, and D genes showed the presence of a heterozygous C>A transversion in exon 2 of CRYGD that is associated with cataracts in this family. This mutation resulted in a proline to threonine substitution at amino acid 23 of the protein in the first of the four Greek key motifs that characterise this protein. We show that although the x ray crystallography modelling does not indicate any change of the backbone conformation, the mutation affects a region of the Greek key motif that is important for determining the topology of this protein fold. Our data suggest strongly that the proline to threonine substitution may alter the protein folding or decrease the thermodynamic stability or solubility of the protein. Furthermore, this is the first report of a mutation in this gene resulting in autosomal dominant congenital cerulean cataracts
Rupture post traumatique de la membrane de Bruch: Ă propos dâun cas
Une contusion du globe peut se compliquer de rupture de la membrane de Bruch ou de la choroïde. Cette complication est observée dans 5 à 10% des cas avec une nette prédominance masculine. Nous rapportons l'observation clinique d'un patient de 26 ans, victime d'un traumatisme contusif sévÚre de l'oeil gauche chez qui l'examen retrouve une rupture de la membrane de bruch au fond d'oeil ; l'evolution spontanné a été marquée parune amélioration visuelle sans complications néovasculaires. Au cours des ruptures post traumatiques de la membrane de bruch le pronostic est essentiellement lié d'une part à sa localisation par rapport à la macula; et d'autre part à la survenue de complications néovasculaires (15 à 30 %des cas)
Copepod community along the Mediterranean coast of Morocco (Southwestern Alboran Sea) during spring
Copepod community along the Mediterranean Moroccan coast was investigated, for the first time, during April 2013. Total abundance varied from 53 to 4557 ind. m-3 and high values were found in coastal waters. Oithona nana and Paracalanus parvus dominated in the entire area and species diversity was decreasing from the West to the East. Hierarchical clustering revealed three groups of stations, depending on their geographic position (western, central and eastern areas). Indicator species analysis pointed out that Clausocalanus furcatus and Gaetanus sp. were significantly associated with Group I, Clausocalanus sp., Centropages sp. and Centropages chierchiae with Group II, whereas Temora longicornis was significantly associated with Group III. Detrended Correspondence Analysis based on the species abundance and environmental variables (temperature, salinity, chlorophyll-a), highlighted a more or less similar setting of stations which was related to salinity and temperature. The presence of three anticyclonic gyres at the northern part of the study area is suggested as the major factor acting on the variability of copepod community along the Mediterranean Moroccan coast
Distribution des larves de sardine et d'anchois le long du filament du Cap Ghir (région nord-ouest africaine)
L'une des caractĂ©ristiques des systĂšmes d'upwellings cĂŽtiers est la prĂ©sence la prĂ©sence de structures mĂ©so-Ă©chelles que la littĂ©rature appelle des "filaments d'upwelling", des extensions vers le large de masses d'eaux issues de l'upwelling. Ces filaments impactent la structure des communautĂ©s planctoniques, dont les larves de petits poissons pĂ©lagiques, considĂ©rĂ©es comme traceurs biologiques des filaments d’upwelling. Sur la cĂŽte Atlantique marocaine, le plus important de ces filaments est celui du Cap Ghir. Le prĂ©sent travail prĂ©sente une Ă©tude des caractĂ©ristiques hydrologiques et du plancton entreprise dans la rĂ©gion du Cap Ghir (31°N) Ă travers cinq campagnes ocĂ©anographiques rĂ©alisĂ©es durant la pĂ©riode 2008-2009. L'analyse des mesures de tempĂ©rature, salinitĂ© et de concentration de chlorophylle a montre une variabilitĂ© spatio-temporelle de la direction de la dĂ©rive des eaux d'upwelling vers le large, qui amĂšne ces eaux alternativement au nord ou au sud du 31Ăšme parallĂšle nord. Cette variabilitĂ© observĂ©e in situ, est confirmĂ©e par l'analyse des images satellites relatives aussi bien Ă la SST qu'Ă la couleur d'eau de mer. Sur le plan biologique, l'impact des filaments d'upwelling est Ă©tudiĂ© Ă travers la distribution des larves de sardines et d'anchois collectĂ©es dans la zone du Cap Ghir. Ainsi, la rĂ©partition des tailles moyennes pondĂ©rĂ©es de ces larves montre un transport vers le large selon un schĂ©ma de circulation vers le nord et le sud de la zone cĂŽtiĂšre d'upwelling
Dacryoadenite tuberculeuse bilatĂ©rale: Ă propos dâun cas
La dacryoadĂ©nite tuberculeuse est une inflammation rare de la glande lacrymale causĂ© par le bacille Mycobacterium tuberculosis. Elle pose unproblĂšme Ă©tiopathogĂ©nique et diagnostique. Nous rapportons dans cette observation le cas d'une dacryoadĂ©nite tuberculeuse bilatĂ©rale chez unjeune homme Marocain de 34 ans ayant prĂ©sentĂ© une tuberculose ganglionnaire et du cavum il y Ă 14 ans, ayant Ă©tĂ© confirmĂ© par l'examenanatomopathologique. La tuberculose reste un diagnostic qui doit ĂȘtre toujours Ă©voquĂ© mĂȘme dans les atteinte bilatĂ©rale surtout si il y a unantĂ©cĂ©dent personnel ou familiale positif de tuberculose. Le pronostic de cette affection est devenu favorable grĂące au traitement antibacillaire prĂ©coce
Tuberculose palpébrale survenant sur un nÊvus de panda
Les nĂŠvus de Panda est un nĂŠvus pĂ©ri-oculaire congĂ©nital trĂšs rares. Il est caractĂ©risĂ© par sa pigmentation sombre et sa surface rugueuse. Le risque de transformation maligne et la gĂȘne esthĂ©tique constituent les principales indications dâune rĂ©section chirurgicale de ces lĂ©sions. La survenue dâun granulome tuberculeux sur cette lĂ©sion est une situation rare posant le problĂšme de diagnostic diffĂ©rentiel avec sa dĂ©gĂ©nĂ©rescence.La tuberculose palpĂ©brale isolĂ©e est une affection cutanĂ©e rare, de diagnostic difficile vu son polymorphisme clinique, son dĂ©veloppement sur une lĂ©sion bĂ©nigne prĂ©existante comme le nĂŠvus de Panda nâest jamais Ă©tĂ© dĂ©crit. Les auteurs rapportent le cas dâun jeun patient qui a bĂ©nĂ©ficiĂ© dâune rĂ©section chirurgicale de la partie infĂ©rieur de son nĂŠvus pour suspicion de dĂ©gĂ©nĂ©rescence maligne et chez qui lâexamen anatomo-pathologique de la piĂšce opĂ©ratoire Ă©tait en faveur dâune atteinte tuberculeuse
Book of Abstracts submitted to the IV Congress of Marine Sciences
The Canary Upwelling System (CUS), a major eastern boundary upwelling system, sustains large crossborder fisheries of small pelagic fish, which poses the question of stock connectivity. Studies suggest that ichthyoplankton transport from the northwest African coast to the Canary Islands (CI) is facilitated by coastal- upwelling associated filaments. Here we analyze connections between larval supply to the CI and sardine and anchovy populations that spawn over the continental shelf. For both species, ichthyoplankton observations (1) at the shelf and (2) near the island of Gran Canaria (GC) are used. Predictions of ichthyoplankton transport to GC are obtained from the Ichthyop Lagrangian transport model, which is forced by a high-resolution hydrodynamic model (ROMS) that reproduces the regional circulation. Results show that upwelling filaments play an important role in the transport of larvae to GC. However, (1) filaments are not the only mechanism, and (2) filament presence does not necessarily imply larval transport. Anchovy and sardine larval presence at GC appears to be independent of the respective adult spawning seasonality. Combining of observed and modeled data does not succeed in reproducing the observed larval patterns at GC. Various hypotheses are proposed to explain this discrepancy in larval transport to GC
SynthÚse Océanographique 2014
This oceanographic synthesis focuses on the main results of the INRH's oceanographic surveys along the Atlantic and Mediterranean coast of Morocco and the follow-up resulting from the treatment of satellite products for the year 2014. The objective of this study is to establish a system of operational oceanographic observations and, ultimately, numerical simulations capable of continuously monitoring trends and hydroclimatic variations at the level of the two Atlantic and Mediterranean seaboards. This document is divided into three parts: The physical oceanography component, biological oceanography component and remote sensing space component
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