A propos de 14 cas de Xanthomatose Cérébrotendineuse (Leucodystrophie métabolique parmi d'autres)

Parmi le groupe des leucodystrophies, les leucodystrophies métaboliques sont d'une importance diagnostique en raison de l'existence d'un traitement spécifique qui permet de ralentir, de stabiliser voire d'améliorer les symptômes de ces maladies au pronostic réservé. Notre travail a permis en premier lieu la proposition d'un bilan paraclinique complémentaire face à un spectre clinico-radiologique évocateur de leucodystrophie métabolique avec bilan de première intention négatif. La deuxièlne partie de ce travail décrit la xanthomatose cérébrotendineuse, une des leucodystrophies métaboliques autosomique récessive, secondaire à un déficit en CYP27A1, caractérisée par la triade xanthomes, cataracte précoce et atteinte neurologique. Les lésions IRM évocatrices sont une leucopathie sus-tentorielle avec atteinte des faisceaux cortico-spinaux et un hypersignalT2 des noyaux dentelés cérébelleux. Un traitement spécifique par acide chenodesoxycholique existe. Nous rapportons 14 cas français de XCT diagnostiquée à l'âge adulte. Cette étude nous permet de conclure à l'importance de la présence clinique de xanthomes quelque soit la sYlnptomatologie neurologique associée et à l'importance du suivi des enfants souffrant d'épilepsie ou de retard mental, mode d'entrée fréquent et aspécifique de la maladie. D'un point de vue paraclinique il semble que la leucopathie suive préférentiellement un gradient antéro-postérieur et qu'une distribution vasculaire ou une atteinte du corps calleux ne doivent pas faire exclure le diagnostic. Le cholestanol nous apparaît, en association à un phénotype clinique évocateur, extrêmement spécifique et sensible. Le gène en cause possède de nOlnbreuses Inutations dont deux nouvelles sont rapportées sans qu'une corrélation génotype-phénotype ne puisse être mise en évidence.MONTPELLIER-BU Médecine UPM (341722108) / SudocMONTPELLIER-BU Médecine (341722104) / SudocSudocFranceF

Ensalada tibia de camarón y chile x-catic, con vinagreta de tamarindo

Editor: Charles H. Oppenhei

La population active en mars 1971

Pohl Richard, Laulhé Pierre, Lionnet Roger. La population active en mars 1971. In: Economie et statistique, n°34, Mai 1972. pp. 3-11

PPOSS - PLANETARY PROTECTION OF OUTER SOLAR SYSTEM EC H2020 PROJECT

The PPOSS (Planetary Protection of Outer Solar System bodies) project, coordinated by the European Science Foundation was selected by the European Commission in August 2015 following the Horizon 2020 call `Space-Competitiveness of the European Space Sector-2015'. In addition to the European Science Foundation, DLR, COSPAR, Imperial College London, EUROSPACE, INAF and Space Technology Ireland Ltd. are also part of the project consortium and PPOSS also has several international partners and observers. PPOSS will run for three years (2016-2018) and has for main objectives to provide an interna- tional forum to consider and approach the specificity of Planetary Protection (biological and organic contamination) for outer Solar system bodies, including icy worlds and small bodies, in the general context of Planetary Protection regulation. While significant effort has been, and is being provided to address planetary protection in the context of the exploration of inner Solar System bodies, and in particular Mars, PPOSS would allow to tackle the scientific, technological and policy-making specificity of Planetary Protection of outer solar system bodies. Project findings will be considered in the general context of the international planetary protection landscape and presented to COSPAR PPP..

CONSIDERING PLANETARY PROTECTION OF OUTER SPACE BODIES - THE EUROPEAN PPOSS PROJECT

The PPOSS (Planetary Protection of Outer Solar System bodies) project, coordinated by the European Science Foundation is supported by the European Commission Horizon 2020 programme. This project kicked-off in January 2016 and will last for three years. The PPOSS project intends to consider how planetary protection policy has been developed and is being implemented, it will look at case studies, lessons learnt and good practices in order to produce a Planetary Protection handbook that will be widely disseminated. The project will also look forward and address the complex issues of organic and biological contamination of outer solar system bodies, in particular small bodies and moons of gas giant planets. PPOSS will identify knowledge gaps, propose scientific goals and suggest activities to overcome the main hurdles to reach these goals. Besides scientific issues, PPOSS will consider the European engineering landscape and the capacity of the European industry to meet the challenges raised by planetary protection of outer solar system bodies, an engineering roadmap will result from this effort. As a one of the main outcomes, the PPOSS project will eventually review the international planetary protection regulation structure, process and categorization related to outer solar system bodies, it will suggest policy improvements to COSPAR Panel on Planetary Protection. PPOSS is implemented by a consortium of seven European and international organisations (European Science Foundation, DLR, COSPAR, Eurospace, INAF, Space Technology Ireland, Imperial College) as well as by international partners, including the Chinese Academy of Sciences and China Academy of Space Technology. The project intends to broaden its international footprint and allow a dedicated forum to address the scientific, technical and policy challenges raised by planetary protection of outer solar system bodies

Psychosocial risk factors for increased emergency hospital utilization by sickle cell disease patients: a systematic review protocol

International audienceTo assess psychosocial risk factors for increased emergency hospital utilization by sickle cell patients. Introduction: Emergency hospital utilization by sickle cell disease patients is high but heterogeneous between patients and in a given patient over time. Psychosocial factors affect emergency hospital utilization and are a possible target to improve the management of sickle cell disease. Inclusion criteria: This review will include all original quantitative studies evaluating the impact of psychosocial risk factors on emergency hospital utilization by sickle cell disease patients. There will be no language restriction. Methods: PubMed, Embase, CINAHL, PubPsych, LiSSa, and Web of Science will be searched using a peer-reviewed search strategy. Study selection and extraction of data will be performed independently by two authors. Discrepancies will be solved by consensus or, if needed, by a third author. The authors will assess study quality, as well as perform a narrative synthesis of included studies, and where possible, meta-analyses with evaluation of heterogeneity and publication bias

076: Left atrial enlargement in sickle cell disease patients: remodelling associated with haematological parameters or index of left ventricular filling pressures

PuposeDiastolic Left ventricular (LV) dysfunction is a common finding in sickle cell disease. Furthermore, left atrial (LA) size usually reflects left ventricular filling pressures.The aim of our study was to determine if LA size is an expression of left ventricular filling pressures or reflects remodelling associated with anemia and/or haemolysis in sickle cell disease.MethodsWe evaluated 127 patients with sickle cell disease in stable condition (mean age 28,6±8,5 years, 83 women) and 38 age and sex-matched healthy controls. LA size was measured with Simpson's method in apical 4-chamber view. LV filling pressures were assessed using ratio between pulsed Doppler peak E velocity and peak Ea velocity obtained with tissue Doppler imaging of the lateral annulus (E/Ea ratio). Clinical and biologic data were collected from clinical records.ResultsCompared with the normal group, patients with sickle cell disease had a LA volume and E/Ea ratio significatively increased (48,4±11,2ml/m2; and 5,9±1,7; 30,5±7,6ml/m&sup2; and 4,5±1, respectively, p<0.0001).In multivariate analysis, LA enlargement in patients is only influenced by age and haematological parameters (haemoglobin and reticulocyte levels).No correlation was found between LA volume and E/Ea ratio (figure).ConclusionSubjects with sickle cell disease have LA enlargement. However, in this population, LA dilatation is not an index of left ventricular filling pressures.Figur

Lipid anchoring and electrostatic interactions target NOT-LIKE-DAD to pollen endo-plasma membrane

International audiencePhospholipases cleave phospholipids, major membrane constituents. They are thus essential for many developmental processes, including male gamete development. In flowering plants, mutation of phospholipase NOT-LIKE-DAD (NLD, also known as MTL or ZmPLA1) leads to peculiar defects in sexual reproduction, notably the induction of maternal haploid embryos. Contrary to previous reports, NLD does not localize to cytosol and plasma membrane of sperm cells but to the pollen endo-plasma membrane (endo-PM), a specific membrane derived from the PM of the pollen vegetative cell that encircles the two sperm cells. After pollen tube burst, NLD localizes at the apical region of the egg apparatus. Pharmacological approaches coupled with targeted mutagenesis revealed that lipid anchoring together with electrostatic interactions are involved in the attachment of NLD to this atypical endo-PM. Membrane surface-charge and lipid biosensors indicated that phosphatidylinositol-4,5-bisphosphate is enriched in the endo-PM, uncovering a unique example of how membrane electrostatic properties can define a specific polar domain (i.e., endo-PM), which is critical for plant reproduction and gamete formation

Intracellular trafficking in pollen and its importance for maize reproduction

International audienc