938 resultados para Unjust enrichment


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The bioenergetic status of cells is tightly regulated by the activity of cytosolic enzymes and mitochondrial ATP production. To adapt their metabolism to cellular energy needs, mitochondria have been shown to exhibit changes in their ionic composition as the result of changes in cytosolic ion concentrations. Individual mitochondria also exhibit spontaneous changes in their electrical potential without altering those of neighboring mitochondria. We recently reported that individual mitochondria of intact astrocytes exhibit spontaneous transient increases in their Na(+) concentration. Here, we investigated whether the concentration of other ionic species were involved during mitochondrial transients. By combining fluorescence imaging methods, we performed a multiparameter study of spontaneous mitochondrial transients in intact resting astrocytes. We show that mitochondria exhibit coincident changes in their Na(+) concentration, electrical potential, matrix pH and mitochondrial reactive oxygen species production during a mitochondrial transient without involving detectable changes in their Ca(2+) concentration. Using widefield and total internal reflection fluorescence imaging, we found evidence for localized transient decreases in the free Mg(2+) concentration accompanying mitochondrial Na(+) spikes that could indicate an associated local and transient enrichment in the ATP concentration. Therefore, we propose a sequential model for mitochondrial transients involving a localized ATP microdomain that triggers a Na(+)-mediated mitochondrial depolarization, transiently enhancing the activity of the mitochondrial respiratory chain. Our work provides a model describing ionic changes that could support a bidirectional cytosol-to-mitochondria ionic communication.

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The interactions among diet, ecology, physiology, and biochemistry affect N and C stable isotope signatures in animal tissues. Here, we examined if ecological segregation among animals in relation to sex and age existed by analyzing the signatures of delta15N and delta13C in the muscle of Western Mediterranean striped dolphins. Moreover, we used a Bayesian mixing model to study diet composition and investigated potential dietary changes over the last two decades in this population. For this, we compared isotope signatures in samples of stranded dolphins obtained during two epizootic events occurring in 1990 and 2007-2008. Mean delta13C values for females and males were not significantly different, but age-related variation indicated delta13C enrichment in both sexes, suggesting that females and males most likely fed in the same general areas, increasing their consumption of benthic prey with age. Enrichment of delta15N was only observed in females, suggesting a preference for larger or higher trophic level prey than males, which could reflect different nutritional requirements. delta13C values showed no temporal variation, although the mean delta15N signature decreased from 1990 to 2007-2008, which could indicate a dietary shift in the striped dolphin over the last two decades. The results of SIAR indicated that in 1990, hake and sardine together contributed to 60% on the diet of immature striped dolphins, and close to 90% for mature striped dolphins. Conversely, the diet of both groups in 2007-2008 was more diverse, as hake and sardine contributed to less than 40% of the entire diet. These results suggest a dietary change that was possibly related to changes in food availability, which is consistent with the depletion of sardine stocks by fishing.

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The origin and evolution of CO2 inclusions and calcite veins in peridotite xenoliths of the Pannonian Basin, Hungary, were investigated by means of petrographic investigation and stable isotope analyses. The fluid inclusions recovered in paragenetic olivine and clinopyroxene belong to distinct populations: type A (texturally early) inclusions with regular shapes (often with negative crystal forms) forming intragranular trails, type B (texturally late) inclusions defining randomly oriented trails that reach grain boundaries Type B inclusions are often associated with silicate melt (type C) inclusions Stable carbon isotope compositions in inclusion-hosted CO2 were obtained by vacuum crushing followed by conventional dual inlet as well as continuous flow mass spectrometry in order to eliminate possible lab artifacts. Olivines, clino- and orthopyroxenes of the host peridotite have oxygen isotope compositions from 5.3 to 6.0 parts per thousand (relative to V-SMOW). without any relationship with xenolith texture. Some of the xenoliths contained calcite in various forms veins and infillings in silicate globules in veins, secondary carbonate veins filling cracks and metasomatic veins with diffuse margins The former two carbonate types have delta C-13 values around -13 parts per thousand (relative to V-PDB) and low Sr contents (<05 wt %), whereas the third type,veins with high-temperature metasomatic features have a delta C-13 value of -5 0 parts per thousand and high Sr contents up to 34 wt.% In spite of the mantle-like delta C-13 value and the unusually high Sr content typical for mantle-derived carbonate, trace element compositions have proven a crustal origin. This observation supports the conclusions of earlier studies that the carbonate melt droplets found on peridotite xenoliths in the alkaline basalts represent mobilized sedimentary carbonate. The large delta C-13 range and the C-12-enrichment in the carbonates can be attributed to devolanlization of the migrating carbonate or infiltration of surficial fluids containing C-12-rich dissolved carbon Carbon isotope compositions of inclusion-hosted CO2 range from -17 8 to -4.8 parts per thousand (relative to V-PDB) with no relation to the amount of CO2 released by vacuum crushing. Low-delta C-13 values measured by stepwise heating under vacuum suggest that the carbon component is pristine and not related to surficial contamination, and that primary mantle fluids with delta C-13 values around -5 parts per thousand were at least partly preserved in the xenoliths Tectonic reworking and heating by the basaltic magma resulted in partial CO2 release and local C-13-depletion. (C) 2010 Elsevier B V All rights reserved

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PURPOSE: Abdominal aortic aneurysms (AAAs) expand because of aortic wall destruction. Enrichment in Vascular Smooth Muscle Cells (VSMCs) stabilizes expanding AAAs in rats. Mesenchymal Stem Cells (MSCs) can differentiate into VSMCs. We have tested the hypothesis that bone marrow-derived MSCs (BM-MSCs) stabilizes AAAs in a rat model. MATERIAL AND METHODS: Rat Fischer 344 BM-MSCs were isolated by plastic adhesion and seeded endovascularly in experimental AAAs using xenograft obtained from guinea pig. Culture medium without cells was used as control group. The main criteria was the variation of the aortic diameter at one week and four weeks. We evaluated the impact of cells seeding on inflammatory response by immunohistochemistry combined with RT-PCR on MMP9 and TIMP1 at one week. We evaluated the healing process by immunohistochemistry at 4 weeks. RESULTS: The endovascular seeding of BM-MSCs decreased AAA diameter expansion more powerfully than VSMCs or culture medium infusion (6.5% ± 9.7, 25.5% ± 17.2 and 53.4% ± 14.4; p = .007, respectively). This result was sustained at 4 weeks. BM-MSCs decreased expression of MMP-9 and infiltration by macrophages (4.7 ± 2.3 vs. 14.6 ± 6.4 mm(2) respectively; p = .015), increased Tissue Inhibitor Metallo Proteinase-1 (TIMP-1), compared to culture medium infusion. BM-MSCs induced formation of a neo-aortic tissue rich in SM-alpha active positive cells (22.2 ± 2.7 vs. 115.6 ± 30.4 cells/surface units, p = .007) surrounded by a dense collagen and elastin network covered by luminal endothelial cells. CONCLUSIONS: We have shown in this rat model of AAA that BM-MSCs exert a specialized function in arterial regeneration that transcends that of mature mesenchymal cells. Our observation identifies a population of cells easy to isolate and to expand for therapeutic interventions based on catheter-driven cell therapy.

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Background: A hospitalised patient infected with MRSA was found to harbour a VISA strain after 6 weeks of treatment with vancomycin. Additional contact measures were reinforced according to CDCs recommendations. We decide to evaluate if these applied control measures were effective. Objective: To evaluate the efficacy of strict additional contact measures to contain the dissemination of VISA from an infected patient. Methods: All patients from the unit were screened weekly for MRSA during a 6-week period, whereas health care workers (HCW) were screened only once. Screening specimen included nose, throat, groin, and clinical specimens for patients, and only nose and throat for HCW. Broth enrichment and chromogenic agar (MRSA-select) were used for MRSA detection. All MRSA isolates were tested on Van screen plates, and growing colonies were tested for MIC of vancomycin. MIC was performed using Etest. Population analysis was done for VISA confirmation. One strain per person was typed by Double Locus Sequence Typing (based on clfB and spa sequencing). Results: 66 patients hospitalized in the same service during the 6 weeks and 55 HCW were screened for MRSA and VISA. MRSA was found in 16/66 (24%) patients and 1/55 (2%) HCW. 16/17 MRSA from patients belonged to the same genotype that the VISA strain. The remaining patient had a MRSA identical to the HCW isolate. Among the 16 MRSA isolates sharing the same genotype than the VISA strain, two showed Etests vancomycin MIC of only 4 mg/L. MIC results were confirmed by the population analysis. They were not considered as VISA, but as MRSA with increased vancomycin MICs. Both isolates were obtained from two roommates. Conclusion: Strict additional contact measures were found to be effective to contain VISA dissemination. However, the identification of two isolates with increased vancomycin MIC (4 mg/L) in two roommates raised the question of the need to routinely test this susceptibility and of adequate control measures for patients harbouring such isolates.

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Abstract The late Neoproterozoic or Ediacaran period, (635 to -543 Ma) is a primordial time in the Earth history corresponding to the beginning of animal life and the most extreme ice ages on Earth. In this dissertation, palaeoenvironmental conditions were reconstructed for Ediacaran, post-Gaskiers shelf deposits in SW- Gondwana and their changes were evaluated according to the diversity of organisms. The present study addresses the question of interactions between biodiversity and environmental change by using the elemental and isotopic geochemistry of sedimentary rocks and associated organic matter, as well as the distribution of hydrocarbon biomarkers. The studied sedimentary sequences are from a large basin extended from the Paraguay belt to the Rio de la Plata craton, including the Corumbâ Group in SW-Brazil (Paraguay belt), the Arroyo del Soldado Group in Uruguay and the Sierras Bayas Group in Argentina (both in the Rio de la Plata craton). Several geochemical signatures of the sediments from Corumbâ and Sierras Bayas groups provides evidence for an euxinic setting in the Ediacaran Ocean: 1) The occurrence of syngenetic pyrite in the Corumbâ Group together with hydrocarbon biomarkers of an anoxic microbial consortium including traces of gammacerane, a distribution of hopanes with maxima at C29 as well as a low pristane/phytane (Pr/Ph) ratio; 2) the occurrence of 34S enrichments within sulfides of the Sierras Bayas Group exceeding the sulfur isotopic composition of coeval carbonate-associated sulfate. In the Arroyo del Soldado Group, an event of reducing conditions was revealed by higher concentrations of redox-sensitive trace elements and negative 513Ccar shifts in all sections. This event is extended to the whole unit in the deepest section and is restricted to tempestites in the two other shallow sections. The persistent negative. ôl3Ccar values recorded at the basinal setting implies strong isotopic gradient between shallow and deep water environments and therefore, a locus of deposition below the redox chemocline. In all studied sections, the excursions, the strong enrichment of authigenic trace-elements, the occurrence of longer chain «-alkanes, gammacerane and low Pr/Ph and Ph/>;-C]a ratios, combined with the previous sedimentological and paleontological observations indicate that the chemistry of the ocean was strongly controlled by the oxygen availability; waters being moderately oxic at the surface and anoxic at depth for much of the Neoproterozoic. This water column stratification was favourable to the storage of large amounts of nutrients in the deep ocean. During upwelling periods, the export of these nutrient-rich waters may have triggered an important bioproductivity in surface waters. Drops in Al3Cc,,.](Cr and positive ôl3Ccllr excursions highlight the increase in primary productivity. Preservation of organic carbon was ensured by reducing conditions at the bottom. The Al3ccar.kcr excursions could also reflect changes in the composition of the primary biomass. New geochemical evidence from SW-Gondwana sections supports a stratified Ediacaran ocean, outside restricted or hypersaline environments, in the aftermath of glaciations. The association of ocean stratification and the appearance of metazoans support the model that the evolution of eukaryotic life was related to the increase of oxygen levels in surface environments due to an efficient recycling of nutrients in the anoxic deep ocean. Résumé Le Néoprotérozoïque terminal, ou Édiacarien (635 à -543 Ma), est un période de première importance dans l'histoire de la Terre, car elle correspond a l'apparition des métazoaires pendant un intervalle de glaciations extrêmes. Le présent mémoire se propose de reconstituer les conditions paléoenvironnementales des dépôts de plateforme mis en place durant l'Édiacarien, au sud-ouest du Gondwana. Les interactions entre changements environnementaux et biodiversité sont évaluées en s'appuyant d'une part sur la composition élémentaire et isotopique des roches sédimentaires et de leur matière organique, et d'autre part sur la distribution moléculaire de biomarqueurs hydrocarbonés. Les séquences sédimentaires étudiées proviennent d'un grand bassin qui s'étend de la chaîne du Paraguay jusqu'au craton du Rio de la Plata. La séquence du Groupe Corumbâ au Sud Ouest du Brésil se situe dans la chaîne du Paraguay, tandis que le Groupe Arroyo del Soldado en Uruguay et le Groupe Sierras Bayas en Argentine sont situés sur le craton du Rio de la Plata. L'étude géochimique des sédiments des groupes Corumbâ et Sierras Bayas révèle de façon claire des conditions euxiniques dans l'océan édiacarien. On trouve ainsi, dans le Groupe Corumbâ, les biomarqueurs d'un cortège microbien anoxique et sulfurique comprenant des bactéries sulfato-réductrices, et dans les sulfures du Groupe Sierras Bayas, des enrichissements en Î4S excédant les rapports isotopiques du soufre dans le sulfate cogénétique associé aux carbonates. Dans la séquence de l'Arroyo del Soldado, un événement réducteur est mis en évidence par des teneurs plus élevées en éléments traces sensibles aux conditions redox et par des excursions négatives du 613Ccardans toutes les coupes. Cet événement affecte la totalité de la section la plus profonde et n'apparaît que dans les tempestites dans les sections les moins profondes. La persistance de valeurs négatives du ô13Ccarau large implique un gradient isotopique prononcé entre les environnements superficiels et profonds, et donc, ta présence d'une chémocline redox. Les excursions du. ôBCcar, l'enrichissement authigène en éléments traces, la présence de gammacérane et de rt-alcanes à longue chaîne, ainsi que de faibles rapports Pr/Ph et Ph/«-Cl8, viennent s'ajouter aux observations préliminaires sur la sédimentologie et la paléontologie pour indiquer que la chimie de l'océan était fortement contrôlée par la disponibilité d'oxygène, les eaux étant modérément oxiques à la surface et anoxiques en profondeur pendant la plus grande partie du Néoprotérozoïque. La stratification de la colonne d'eau était favorable au stockage de grandes quantités de nutriments dans l'océan profond. Dans les zones d'upwelling, la migration d'eaux profondes riches en nutriment vers la surface a pu provoquer une bioproductivité prononcée dans les eaux de surface. La conservation du carbone organique était assurée par les conditions anoxiques prévalant au fond. Les excursions du A13Ccar.kt.r pourraient aussi refléter des changements dans la biomasse primaire. Le présent travail apporte donc de nouvelles preuves qu'un océan stratifié s'est maintenu à la suite des glaciations néoprotérozoïques dans le Sud Ouest du Gondwana. L'association d'un océan stratifié et de l'apparition de la vie animale est en accord avec le modèle stipulant que l'évolution de la vie est associée à une meilleure oxygénation des environnements de surface. Résumé pour le grand public La période Ediacarienne (635 à -543 Ma) à la fin du Précambrien est l'une de plus énigmatiques dans l'histoire de la Terre, car elle est caractérisée par la diversification de la vie multicellulaire (eucaryote) pendant un intervalle de glaciations extrêmes. Dans ce travail de thèse, nous cherchons à déceler l'existence éventuelle d'un lien entre ces changements environnementaux et l'évolution de la vie eucaryote à travers une étude biogéochimique. La biogéochimie est l'étude des activités biologiques dans la géosphère, telles que celles intervenant dans les cycles des éléments chimiques (y compris les isotopes stables) et celles de production de composés carbonés caractérisant certains groups d'organismes ou taxons. La recherche des signatures paléoenvironnementales dans les roches précambriennes a été fortement facilitée par l'utilisation des biomarqueurs ou fossiles moléculaires. Ces composés, provenant des lipides biologiques (molécules avec des fonctions spécifiques dans les organismes), peuvent être reliés à des taxons spécifiques ou à des voies métaboliques. La transformation d'un biolipide en fossile moléculaire intervient lorsque des restes organiques déposés dans un substrat subissent un enfouissement et une augmentation de la pression (diagenèse). Ce processus mène à la formation de kérogène, un grand agrégat chimique de matière organique insoluble dans des solvants organiques, et de bitume ou fraction soluble (extractible) de la matière organique. L'analyse intégrée du kérogène et du bitume fournit des indications précieuses pour les reconstitutions paléoenvironnementales. Des conditions paléoenvironnementales ont ainsi été déterminées pour une plateforme marine Ediacarienne située dans la partie sud-américaine du bloc occidental du paléocontinent Gondwana. Les séquences sédimentaires étudiées appartiennent au même bassin qui s'étend de la ceinture du Paraguay (Groupe Corumbâ, Brésil) au craton du Rio de la Plata (Groupes Arroyo del Soldado, Uruguay et Sierras Bayas, Argentina). Nous nous sommes intéressés aux isotopes stables de carbonates et de la matière organique associée (kérogène et bitume), aux éléments majeurs et traces, ainsi qu'aux biomarqueurs caractérisant ces roches. Les résultats de cette dissertation suggèrent qu'au cours de l'Édiacarien, suite aux glaciations néoprotérozoïques dans le bloc occidental du Gondwana, l'océan était stratifié en zones spécifiques d'eaux riches en sulfures et dépourvues d'oxygène (euxiniques). L'association d'un océan stratifié et de l'apparition de la vie animale est en accord avec le modèle stipulant que l'évolution de la vie est associée à une meilleure oxygénation des environnements de surface. Les excursions isotopiques (tendance à des valeurs positives ou négatives) en constante fluctuation pour le carbone et très positives pour le soufre des sulfures, l'enrichissement en éléments trace et la présence de certains composés (e.g. gammacerane; Pr/Ph et Ph/«-Ci8 en basse proportion) conjugués aux observations sédimentologiques et paléontologiques des différents profils étudiés indiquent que la chimie de l'océan était fortement contrôlée par la disponibilité d'oxygène, avec des eaux modérément oxygénées en surface et euxiniques en profondeur pour la plupart du Néoprotérozoïque.

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EBV has been consistently associated with MS, but its signature in the CNS has rarely been examined. In this study, we assessed EBV-specific humoral and cellular immune responses in the cerebrospinal fluid (CSF) of patients with early MS, other inflammatory neurological diseases (OIND) and non-inflammatory neurological diseases (NIND). The neurotropic herpesvirus CMV served as a control. Virus-specific humoral immune responses were assessed in 123 consecutive patients and the intrathecal recruitment of virus-specific antibodies was expressed as antibody indexes. Cellular immune responses tested in the blood of 55/123 patients were positive in 46/55. The CD8(+) CTL responses of these 46 patients were assessed in the blood and CSF using a CFSE-based CTL assay. We found that viral capsid antigen and EBV-encoded nuclear antigen-1, but not CMV IgG antibody indexes, were increased in early MS as compared with OIND and NIND patients. There was also intrathecal enrichment in EBV-, but not CMV-specific, CD8(+) CTL in early MS patients. By contrast, OIND and NIND patients did not recruit EBV- nor CMV-specific CD8(+) CTL in the CSF. Our data, showing a high EBV-, but not CMV-specific intrathecal immune response, strengthen the association between EBV and MS, in particular at the onset of the disease.

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In the eastern Bulgarian Rhodope, mafic extrusive rocks and underlying greenschists are found in the Mesozoic low-grade unit, which represents the northern extension of similar sequences including the Evros ophiolites in Thrace (Greece). Both rock types define a suite of low-Ti tholeiitic basalts to transitional boninitic basaltic andesites and andesites and associated metapyroclastites (greenschists), intruded at its base by diorite dikes of a boninitic affinity. Mafic lavas and greenschists display large ion lithophile element (LILE) enrichment relative to high-field strength elements (HFSE), flat REE patterns of a slight light REE depletion, a strong island arc tholeiite (IAT) and weak MORB-like signature. All these rocks are characterized by negative Nb anomalies ascribed to arc lavas. They have positive epsilon Nd(i) values in the range of +4.87 to +6.09, approaching the lower limit of MORB-like source, and relatively high ((207)Pb/(204)Pb)(i) (15.57-15.663) at low ((206)Pb/(204)Pb)(i) (18.13-18.54) ratios. The Nd isotopic compositions coupled with trace element data imply a dominantly depleted MORB-like mantle source and a contribution of subduction modified LILE-enriched component derived from the mantle wedge. The diorite dike has a low eNdi value of -2.61 and is slightly more Pb radiogenic ((207)Pb/(204)Pb)(i) (15.64) and ((206)Pb/(204)Pb)(i) (18.56), respectively, reflecting crustal contamination. Petrologic and geochemical data indicate that the greenschists and mafic extrusive rocks represent a magmatic assemblage formed in an island arc setting. The magmatic suite is interpreted as representing an island arc-accretionary complex related to the southward subduction of the Meliata-Maliac ocean under the supra-subduction back-arc Vardar ocean/island arc system. Magmatic activity appears to have initiated in the north during the inception of the island arc system by the Early-Middle Jurassic time in the eastern Rhodope that most likely graded to back-arc spreading southwards as represented by the Late Jurassic MORB-type Samothraki Island ophiolites. This tectonic scenario is further constrained by paleotectonic reconstructions. The arc-trench system collided with the Rhodope in the Late Jurassic times. (c) 2007 Elsevier B.V. All rights reserved.

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Gene set enrichment (GSE) analysis is a popular framework for condensing information from gene expression profiles into a pathway or signature summary. The strengths of this approach over single gene analysis include noise and dimension reduction, as well as greater biological interpretability. As molecular profiling experiments move beyond simple case-control studies, robust and flexible GSE methodologies are needed that can model pathway activity within highly heterogeneous data sets. To address this challenge, we introduce Gene Set Variation Analysis (GSVA), a GSE method that estimates variation of pathway activity over a sample population in an unsupervised manner. We demonstrate the robustness of GSVA in a comparison with current state of the art sample-wise enrichment methods. Further, we provide examples of its utility in differential pathway activity and survival analysis. Lastly, we show how GSVA works analogously with data from both microarray and RNA-seq experiments. GSVA provides increased power to detect subtle pathway activity changes over a sample population in comparison to corresponding methods. While GSE methods are generally regarded as end points of a bioinformatic analysis, GSVA constitutes a starting point to build pathway-centric models of biology. Moreover, GSVA contributes to the current need of GSE methods for RNA-seq data. GSVA is an open source software package for R which forms part of the Bioconductor project and can be downloaded at http://www.bioconductor.org.

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Composts are the products obtained after the aerobic degradation of different types of organic matter waste and can be used as substrates or substrate/soil amendments for plant cultivation. There is a small but increasing number of reports that suggest that foliar diseases may be reduced when using compost, rather than standard substrates, as growing medium. The purpose of this study was to examine the gene expression alteration produced by the compost to gain knowledge of the mechanisms involved in compost-induced systemic resistance. A compost from olive marc and olive tree leaves was able to induce resistance against Botrytis cinerea in Arabidopsis, unlike the standard substrate, perlite. Microarray analyses revealed that 178 genes were differently expressed, with a fold change cut-off of 1, of which 155 were up-regulated and 23 were down-regulated in compost-grown, as against perlite-grown plants. A functional enrichment study of up-regulated genes revealed that 38 Gene Ontology terms were significantly enriched. Response to stress, biotic stimulus, other organism, bacterium, fungus, chemical and abiotic stimulus, SA and ABA stimulus, oxidative stress, water, temperature and cold were significantly enriched, as were immune and defense responses, systemic acquired resistance, secondary metabolic process and oxireductase activity. Interestingly, PR1 expression, which was equally enhanced by growing the plants in compost and by B. cinerea inoculation, was further boosted in compost-grown pathogen-inoculated plants. Compost triggered a plant response that shares similarities with both systemic acquired resistance and ABA-dependent/independent abiotic stress responses.

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The objective of this work was to evaluate the survival of two Trichoderma harzianum co-transformants, TE 10 and TE 41, carrying genes for green fluorescent protein (egfp) and for resistance to benomyl, during four weeks in a contained soil microcosm. Selective culture media were used to detect viable fungal material, whose identity was confirmed by the observation of the fluorescent phenotype by direct epifluorence microscopy. PCR using two nested primer pairs specific to the egfp gene was also used to detect the transformed fungi. Although it was not possible to reliably detect the egfp gene directly from soil extracts, an enrichment step involving selective culture of soil samples in liquid medium prior to DNA extraction enabled the consistent detection of the T. harzianum co-transformants by nested PCR for the duration of the incubation period.

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Oxygen isotope measurements using SIMS and laser-fluorination methods confirm the presence of concentric and sector zoning in low-temperature (200 degrees C to < 400 degrees C) hydrothermal quartz from Alpine veins. While concentric zoning is most readily explained by changes in the chemical composition of the fluid or temperature of crystallization, the reasons for sector zoning are more difficult to explain. Relative enrichment in (18)O for crystallographically different sectors of quartz corresponds to m > r > z. Sector zoning is, however, largely limited to the exterior zones of crystals and/or to crystals with large Al (> 1000 ppm) and trace element contents, probably formed at temperatures < 250 degrees C. Differences in delta(18)O between the prismatic (m) relative to the rhombohedral (r and z) growth sectors of up to 2 parts per thousand can be explained by a combination of a face-related crystallographic and/or a growth rate control. In contrast, isotopic sector zoning of up to about 1.5 parts per thousand amongst the different rhombohedral faces increases in parallel with the trace element content and is likely to represent disequilibrium growth. This is indicated by non-systematic, up to 2 parts per thousand, differences within single growth zones and the irregular, larger or smaller, delta(18)O values (of several permil) of the exterior compared to the inner zones of the same crystals. Disequilibrium growth may be related to the large trace element content incorporated into the growing quartz at lower temperatures (< 250 degrees C) and/or be related to fluid-vapour separation, allowing crystal growth from both a vapour as well as a liquid phase.

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OBJECTIVE: To establish the genetic basis of Landau-Kleffner syndrome (LKS) in a cohort of two discordant monozygotic (MZ) twin pairs and 11 isolated cases. METHODS: We used a multifaceted approach to identify genetic risk factors for LKS. Array comparative genomic hybridization (CGH) was performed using the Agilent 180K array. Whole genome methylation profiling was undertaken in the two discordant twin pairs, three isolated LKS cases, and 12 control samples using the Illumina 27K array. Exome sequencing was undertaken in 13 patients with LKS including two sets of discordant MZ twins. Data were analyzed with respect to novel and rare variants, overlapping genes, variants in reported epilepsy genes, and pathway enrichment. RESULTS: A variant (cG1553A) was found in a single patient in the GRIN2A gene, causing an arginine to histidine change at site 518, a predicted glutamate binding site. Following copy number variation (CNV), methylation, and exome sequencing analysis, no single candidate gene was identified to cause LKS in the remaining cohort. However, a number of interesting additional candidate variants were identified including variants in RELN, BSN, EPHB2, and NID2. SIGNIFICANCE: A single mutation was identified in the GRIN2A gene. This study has identified a number of additional candidate genes including RELN, BSN, EPHB2, and NID2. A PowerPoint slide summarizing this article is available for download in the Supporting Information section here.

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Soils on gypsum are well known in dry climates, but were very little described in temperate climate, and never in Switzerland. This study aims to describe soils affected by gypsum in temperate climate and to understand their pedogenesis using standard laboratory analyzes performed on ten Swiss soils located on gypsum outcrops. In parallel, phytosociological relevés described the vegetation encountered in gypsiferous grounds. Gypsification process (secondary gypsum enrichment by precipitation) was observed in all soils. It was particularly important in regions where potential evapotranspiration exceed strongly precipitations in summer (central Valais, Chablais under influence of warm wind). Gypsum contents were regularly measured above 20% in deep horizons, and exceeded locally 70%, building a white, indurate horizon. However, the absence of such a gypsic horizon in the top soil hindered the use of gypsosol (according to the Référentiel pédologique, BAIZE & GIRARD 2009), the typical name of soils affected by gypsum, but restricted to dry regions. As all soils had a high content of magnesium carbonates, they were logically classified in the group of DOLOMITOSOLS. However, according to the World Reference Base for Soil Resources (IUSS 2014), five soils can be classified among the Gypsisols, criteria being here less restricting. These soils are characterized by a coarse texture and a particulate brittle structure making a filtering substrate. They allow water to flow easily taking nutrients. They are not retained by clay, which does generally not exceed 1% of the fine material. The saturation of calcium blocks the breakdown of organic matter. Moreover, these soils are often rejuvenated by erosion caused by the rough relief due to gypsum (landslides, sinkholes, cliffs and slopes). Hence, the vegetation is mainly characterized by calcareous and drought tolerant species, with mostly xerothermophilic beech (Cephalanthero-Fagenion) and pine forests (Erico-Pinion sylvestris) in lowlands, or subalpine heathlands (Ericion) and dry calcareous grasslands (Caricion firmae) in higher elevations.

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The recognition that colorectal cancer (CRC) is a heterogeneous disease in terms of clinical behaviour and response to therapy translates into an urgent need for robust molecular disease subclassifiers that can explain this heterogeneity beyond current parameters (MSI, KRAS, BRAF). Attempts to fill this gap are emerging. The Cancer Genome Atlas (TGCA) reported two main CRC groups, based on the incidence and spectrum of mutated genes, and another paper reported an EMT expression signature defined subgroup. We performed a prior free analysis of CRC heterogeneity on 1113 CRC gene expression profiles and confronted our findings to established molecular determinants and clinical, histopathological and survival data. Unsupervised clustering based on gene modules allowed us to distinguish at least five different gene expression CRC subtypes, which we call surface crypt-like, lower crypt-like, CIMP-H-like, mesenchymal and mixed. A gene set enrichment analysis combined with literature search of gene module members identified distinct biological motifs in different subtypes. The subtypes, which were not derived based on outcome, nonetheless showed differences in prognosis. Known gene copy number variations and mutations in key cancer-associated genes differed between subtypes, but the subtypes provided molecular information beyond that contained in these variables. Morphological features significantly differed between subtypes. The objective existence of the subtypes and their clinical and molecular characteristics were validated in an independent set of 720 CRC expression profiles. Our subtypes provide a novel perspective on the heterogeneity of CRC. The proposed subtypes should be further explored retrospectively on existing clinical trial datasets and, when sufficiently robust, be prospectively assessed for clinical relevance in terms of prognosis and treatment response predictive capacity. Original microarray data were uploaded to the ArrayExpress database (http://www.ebi.ac.uk/arrayexpress/) under Accession Nos E-MTAB-990 and E-MTAB-1026. © 2013 Swiss Institute of Bioinformatics. Journal of Pathology published by John Wiley & Sons Ltd on behalf of Pathological Society of Great Britain and Ireland.