Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans

Renal hypodysplasia (RHD) is a heterogeneous condition encompassing a spectrum of kidney development defects including renal agenesis, hypoplasia, and (cystic) dysplasia. Heterozygous mutations of several genes have been identified as genetic causes of RHD with various severity. However, these genes and mutations are not associated with bilateral renal agenesis, except for RET mutations, which could be involved in a few cases. The pathophysiological mechanisms leading to total absence of kidney development thus remain largely elusive. By using a whole-exome sequencing approach in families with several fetuses with bilateral renal agenesis, we identified recessive mutations in the integrin α8-encoding gene ITGA8 in two families. Itga8 homozygous knockout in mice is known to result in absence of kidney development. We provide evidence of a damaging effect of the human ITGA8 mutations. These results demonstrate that mutations of ITGA8 are a genetic cause of bilateral renal agenesis and that, at least in some cases, bilateral renal agenesis is an autosomal-recessive disease

Impact des paramètres de conception sur le confort d'été des grands espaces-serres

Bien que les grands volumes vitrés soient attrayants par de nombreux aspects, ils présentent souvent des défauts majeurs qui nuisent au confort des occupants et peuvent provoquer des consommations excessives d'énergie. L'objectif de ce travail est d'identifier et de quantifier l'impact des facteurs influant sur le confort d'été dans des grands espaces-serres de type attaché. Après une synthèse bibliographique concernant les grands espaces-serres ainsi que l'analyse de sensibilité par plans d'expériences, les plans factoriels fractionnaires ont été retenus pour trier 11 paramètres de conception selon leur impact sur le confort thermique. Ce tri nous a permis d'identifier l'influence capitale du taux de transmission CLO et du renouvellement d'air. Grâce à des plans factoriels complets, nous avons obtenu des modèles simplifiés d'indices de confort thermique. Les résultats du tri sont en bon accord avec ceux obtenus par différences finies. La plus-value des stratégies de régulation implémentées pour l'orientation de brise-soleil et du taux de renouvellement d'air reste modeste. L'installation de protections solaires fixes ou d'orientation variable suivant les saisons semble un moyen efficace pour lutter contre le phénomène de surchauffe, sans pour autant nuire à l'impression d'ouverture et de lumière recherchée.Evidence suggests that a significant number of large highly-glazed spaces have major design flaws that lead to energy wastage and discomfort. The objective of this work is to derive and implement methods to evaluate the impact of design parameters such as solar transmission of windows, air change rate on the thermal comfort in large highly-glazed spaces. After a literature review about large highly-glazed spaces and sensitivity analysis with factorial design of experiments, we have chosen fractional factorial design to screen 11 design parameters according to their impact on the thermal comfort. Our result stress the key role of Short Wave transmittance and air change rate. With complete factorial design, we have obtained simplified models of thermal comfort criteria. The screening results agree with those of the finite-difference differentiation. The impact of the implemented control strategies of the slat tilting or that of the air change rate appears to be modest in summer conditions. In the case investigated, the installation of "fixed" slats, whose position can be changed with the season, seems an efficient way to limit overheating, without detrimental effects on the impression of open space and light.VILLEURBANNE-DOC'INSA LYON (692662301) / SudocSudocFranceF

Un dispositif original pour l'étude de la perception et des processus cognitifs chez le jeune enfant

Summary : A new apparatus for the study of perceptual and cognitive processes in infants. The paper describes an original versatile device for the study of infants' exploratory activities, with three main characleristics : 1) A computer generates all kinds of visual stimuli, stationary or moving, on a video screen ; moreover, it controls the whole experimental procedure ; 2) A one-way mirror system allows the video recording in the axis of the infant's gaze; 3) Various spatial organisations make it possible to shift rapidly to wider visual angles and the use of objects as stimuli. Key-words : infant, experimentation, perception.Cet article décrit un dispositif qui regroupe et complète de façon originale diverses solutions existantes pour étudier les activités exploratoires du très jeune enfant. Il présente trois caractéristiques principales : 1) un ordinateur génère toutes sortes de stimulus visuels, sur un grand écran vidéo ; de plus il contrôle les procédures, en limitant les biais expérimentaux; 2) un miroir sans tain permet de filmer le regard du bébé exactement dans Vaxe; 3) la souplesse du dispositif permet de passer rapidement à différentes configurations, avec par exemple utilisation d'objets comme stimulus, pour des études sur les transferts visuo-tactiles. Mots clés : bébé, expérimentation, perception.Lécuyer Roger, Humbert Rémi, Findji François. Un dispositif original pour l'étude de la perception et des processus cognitifs chez le jeune enfant. In: L'année psychologique. 1992 vol. 92, n°2. pp. 225-232

Groundwater control of biogeochemical processes causing phosphorus release from riparian wetlands

International audienceBecause of the high sorption affinity of phosphorus (P) for the soil solid phase, mitigation options to reduce diffuse P transfer usually focus on trapping particulate P delivered via surface flow paths. Therefore, placing riparian buffers between croplands and watercourses has been promoted worldwide, sometimes in wetland areas. To investigate the risk of P-accumulating riparian wetlands (RWs) releasing dissolved P into streams, we monitored molybdate-reactive P (MRP) in the soil pore water of two RWs in an agricultural watershed. Two main mechanisms released MRP under the control of groundwater dynamics. First, soil rewetting after the dry summer period was associated with the presence of a pool of mobile P, limited in size. Its mobilization started under water saturated conditions caused by a rise in groundwater. Second, anoxic conditions at the end of winter caused reductive dissolution of Fe (hydr)oxides along with a release of MRP. Comparison of sites revealed that the first MRP release occurred only in RWs with P-enriched soils, whereas the second was observed even in RWs with low soil P status. Seasonal variations in stream MRP concentrations were similar to concentrations in RW soils. Hence, RWs can act as a key component of the P transfer continuum in agricultural landscapes by converting particulate P from croplands into MRP transferred to streams

Inventaire de l'architecture parisienne sous la IIIe République. Inventaire architectural du XIIIe arrondissement

Ensemble de fiches descriptives brutes (type sortie imprimante) qui a pour objet de recenser les bâtiments parisiens qui caractérisent le passage du mouvement classique au Mouvement moderne

Developmental Defects in Huntington's Disease Show That Axonal Growth and Microtubule Reorganization Require NUMA1

Although the classic symptoms of Huntington's disease (HD) manifest in adulthood, neural progenitor cell behavior is already abnormal by 13~weeks' gestation. To determine how these developmental defects evolve, we turned to cell and mouse models. We found that layer II/III neurons that normally connect the hemispheres are limited in their growth in HD by microtubule bundling defects within the axonal growth cone, so that fewer~axons cross the corpus callosum. Proteomic analyses of the growth cones revealed that NUMA1 (nuclear/mitotic apparatus protein 1) is downregulated in HD by miR-124. Suppressing NUMA1 in wild-type cells~recapitulates the microtubule and axonal growth defects of HD, whereas raising NUMA1 levels with antagomiR-124 or stabilizing microtubules with epothilone B restores microtubule organization and rescues axonal growth. NUMA1 therefore regulates the microtubule network in the growth cone, and HD, which is traditionally conceived as a disease of intracellular trafficking, also disturbs the cytoskeletal network

Effect of climate, intra and inter-annual variability, on nutrients emission (C,N, P) in stream water: lessons from an agricultural long term observatory of the temperate zone

International audienceAgriculture greatly contributes to modify C, N and P cycles, particularly in animal breeding regions due to highinputs. Climatic conditions, intra and inter-annual variabilities, modify nutrient stream water emissions, acting intime on transfer and transformation, accumulation and mobilization processes, connecting and disconnecting intime different compartments (soil, riparian areas, groundwater). In agricultural catchments, nutrient perturbationsare dominated by agricultural land use, and decoupling human activities and climate effects is far from easy.Climate change generally appears as a secondary driver compared to land use. If studied, generally only onenutrient is considered. Only long term, high frequency and multiple element data series can decouple these twodrivers.The Kervidy-Naizin watershed belongs to the AgrHyS environmental research observatory(http://www6.inra.fr/ore_agrhys_eng), itself included in RBV (French catchment network of the CZO). Onthis catchment, 6 years of daily data on DOC, NO3, SRP, TP concentrations allow us to analyze the effect ofseasonal and inter-annual climatic variabilities on water quality (C, N, P). Different papers have been publishedon the effect of climate on nitrate (Molenat et al, 2008), SRP and TP (Dupas et al, 2015) and DOC (Humbert et al,2015). We will present first results comparing the effect of climate on these three major solute forms of C, N andP. While C and P dynamics are very close and controlled by fluctuation of water table downslope, i.e. in riparianareas, mobilizing C and P in time, nitrate dynamics is controlled by GW dynamics upslope acting as the major Nreservoir. As example, the dryness conditions in summer appears a key factor of the C and P emissions in autumn.All the three solute forms interact when anoxic conditions are observed in riparian zones. These basic processesexplain how climatic variability can influence and explain interactions between C, N and P emissions in streamwater.These results underline three major lack in most of our observatories: high frequency data as flood event areimportant for C and P emissions; multiple element approach, as very few observatories have currently C, N andP, their solute and particulate forms; climate but also soil wetness, GW fluctuations explaining biotransformationand connection between reservoirs on catchments, so that linking hydrological and biogeochimical condition isnecessary to explain export. These lacks of observations is a barrier to develop process based models assessingand predicting the effect of climate on water quality.ReferencesDupas R., Gruau G., Sen Gu, Humbert G., Jaffrezic A., Gascuel-Odoux C., 2015. Groundwater control ofbiogeochemical processes causing phosphorus release from riparian wetlands. Water Research 84, 307-314Humbert G., Jaffrezic A., Fovet O., Gruau G., Durand P., 2015. Dry-season length and runoff control annualvariability in stream DOC dynamics in a small, shallow groundwater-dominated agricultural watershed. WaterResources Research.Molenat J., Gascuel-Odoux C., Ruiz L., Gruau G., 2008. Role of water table dynamics on stream nitrate exportand concentration in agricultural headwater. Journal of Hydrology 348, 363– 37