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2.
Environ Microbiol ; 24(2): 626-642, 2022 02.
Artículo en Inglés | MEDLINE | ID: mdl-35102700

RESUMEN

Thermococcales, a major order of archaea inhabiting the iron- and sulfur-rich anaerobic parts of hydrothermal deep-sea vents, have been shown to rapidly produce abundant quantities of pyrite FeS2 in iron-sulfur-rich fluids at 85°C, suggesting that they may contribute to the formation of 'low temperature' FeS2 in their ecosystem. We show that this process operates in Thermococcus kodakarensis only when zero-valent sulfur is directly available as intracellular sulfur vesicles. Whether in the presence or absence of zero-valent sulfur, significant amounts of Fe3 S4 greigite nanocrystals are formed extracellularly. We also show that mineralization of iron sulfides induces massive cell mortality but that concomitantly with the formation of greigite and/or pyrite, a new generation of cells can grow. This phenomenon is observed for Fe concentrations of 5 mM but not higher suggesting that above a threshold in the iron pulse all cells are lysed. We hypothesize that iron sulfides precipitation on former cell materials might induce the release of nutrients in the mineralization medium further used by a fraction of surviving non-mineralized cells allowing production of new alive cells. This suggests that biologically induced mineralization of iron-sulfides could be part of a survival strategy employed by Thermococcales to cope with mineralizing high-temperature hydrothermal environments.


Asunto(s)
Thermococcales , Thermococcus , Ecosistema , Hierro/química , Sulfuros/química
3.
J Environ Manage ; 232: 910-918, 2019 Feb 15.
Artículo en Inglés | MEDLINE | ID: mdl-30530282

RESUMEN

A field-pilot bioreactor exploiting microbial iron (Fe) oxidation and subsequent arsenic (As) and Fe co-precipitation was monitored during 6 months for the passive treatment of As-rich acid mine drainage (AMD). It was implemented at the Carnoulès mining site (southern France) where AMD contained 790-1315 mg L-1 Fe(II) and 84-152 mg L-1 As, mainly as As(III) (78-83%). The bioreactor consisted in five shallow trays of 1.5 m2 in series, continuously fed with AMD by natural flow. We monitored the flow rate and the water physico-chemistry including redox Fe and As speciation. Hydraulic retention time (HRT) was calculated and the precipitates formed inside the bioreactor were characterized (mineralogy, Fe and As content, As redox state). Since As(III) oxidation improves As retention onto Fe minerals, bacteria with the capacity to oxidize As(III) were quantified through their marker gene aioA. Arsenic removal yields in the pilot ranged between 3% and 97% (average rate (1.8 ±â€¯0.8) ✕ 10-8 mol L-1 s-1), and were positively correlated to HRT and inlet water dissolved oxygen concentration. Fe removal yields did not exceed 11% (average rate (7 ±â€¯5) ✕ 10-8 mol L-1 s-1). In the first 32 days the precipitate contained tooeleite, a rare arsenite ferric sulfate mineral. Then, it evolved toward an amorphous ferric arsenate phase. The As/Fe molar ratio and As(V) to total As proportion increased from 0.29 to 0.86 and from ∼20% to 99%, respectively. The number of bacterial aioA gene copies increased ten-fold during the first 48 days and stabilized thereafter. These results and the monitoring of arsenic speciation in the inlet and the outlet water, provide evidences that As(III) oxidized in the pilot. The biotreatment system we designed proved to be suitable for high As DMA. The formation of sludge highly enriched into As(V) rather than As(III) is advantageous in the perspective of long term storage.


Asunto(s)
Arsénico , Contaminantes Químicos del Agua , Arseniatos , Biodegradación Ambiental , Reactores Biológicos , Francia , Minería , Oxidación-Reducción
4.
J Hazard Mater ; 362: 358-367, 2019 01 15.
Artículo en Inglés | MEDLINE | ID: mdl-30243259

RESUMEN

Sorption isotherms remain a major tool to describe and predict the mobility of pollutants in natural and anthropogenic environments, but they are typically determined by independent batch experiments. In the present study, the sequestration of As(III), Cr(VI) and competitive As(III)-Cr(VI) on/in 6L-ferrihydrite, siderite and goethite nanostructured minerals was reinvestigated using stirred flow-through reactor experiments. Herein, sorption isotherms were particularly determined from breakthrough curves for inert and reactive tracers monitored simultaneously in a single percolation experiment. In complement, X-ray absorption spectroscopy (XAS) was used to identify As sorption sites on 6L-ferrihydrite and goethite. As expected, the minerals have high potential to remove As and Cr from water (siderite = ferrihydrite (about 60 mg/g) > goethite (20 mg/g)). As and Cr sorption isotherms were modelled with a Langmuir model, and with a sigmoidal Hill model in the case of the competitive sorption. XAS measurements have revealed that As(III) was partially oxidized (up to 22%) in the competitive system with chromate oxyanion Cr(VI). As(III) sorbed on ferrihydrite and goethite adopted edge-sharing and corner sharing complex geometries. Nowadays, a new class of adsorbing phases is being developed for wastewater treatment, including engineered nanostructured materials and nanocomposites. The use of flow through reactor experiments as a high throughput method, combined with XAS, should be considered as efficient screening methods to test their sorbing properties on various contaminants.

5.
Clin Genet ; 94(1): 141-152, 2018 07.
Artículo en Inglés | MEDLINE | ID: mdl-29574747

RESUMEN

Wiedemann-Steiner syndrome (WSS) is a rare syndromic condition in which intellectual disability (ID) is associated with hypertrichosis cubiti, short stature, and characteristic facies. Following the identification of the causative gene (KMT2A) in 2012, only 31 cases of WSS have been described precisely in the literature. We report on 33 French individuals with a KMT2A mutation confirmed by targeted gene sequencing, high-throughput sequencing or exome sequencing. Patients' molecular and clinical features were recorded and compared with the literature data. On the molecular level, we found 29 novel mutations. We observed autosomal dominant transmission of WSS in 3 families and mosaicism in one family. Clinically, we observed a broad phenotypic spectrum with regard to ID (mild to severe), the facies (typical or not of WSS) and associated malformations (bone, cerebral, renal, cardiac and ophthalmological anomalies). Hypertrichosis cubiti that was supposed to be pathognomonic in the literature was found only in 61% of our cases. This is the largest series of WSS cases yet described to date. A majority of patients exhibited suggestive features, but others were less characteristic, only identified by molecular diagnosis. The prevalence of WSS was higher than expected in patients with ID, suggesting than KMT2A is a major gene in ID.


Asunto(s)
Discapacidad Intelectual/diagnóstico , Discapacidad Intelectual/etiología , Adolescente , Sustitución de Aminoácidos , Niño , Preescolar , Susceptibilidad a Enfermedades , Femenino , Francia , Secuenciación de Nucleótidos de Alto Rendimiento , N-Metiltransferasa de Histona-Lisina/genética , Humanos , Imagen por Resonancia Magnética , Masculino , Mutación , Proteína de la Leucemia Mieloide-Linfoide/genética , Fenotipo , Síndrome , Tomografía Computarizada por Rayos X
6.
Clin Genet ; 93(4): 837-845, 2018 04.
Artículo en Inglés | MEDLINE | ID: mdl-29136273

RESUMEN

Microphthalmia and anophthalmia (MA) are severe developmental eye anomalies, many of which are likely to have an underlying genetic cause. More than 30 genes have been described, each of which is responsible for a small percentage of these anomalies. Among these, is the FOXE3 gene, which was initially described in individuals with dominantly inherited anterior segment dysgenesis and, subsequently, associated with recessively inherited primary aphakia, sclerocornea and microphthalmia. In this work, we describe 8 individuals presenting with an MA phenotype. Among them, 7 are carrying biallelic recessive FOXE3 mutations and 2 of these have novel mutations: p.(Ala78Thr) and p.(Arg104Cys). The last of our patients is carrying in the heterozygous state the recessive p.(Arg90Leu) mutation in the FOXE3 gene. To further understand FOXE3 involvement in this wide spectrum of ocular anomalies with 2 different patterns of inheritance, we reviewed all individuals with ocular abnormalities described in the literature for which a FOXE3 mutation was identified. This review demonstrates that correlations exist between the mutation type, mode of inheritance and the phenotype severity. Furthermore, understanding the genetic basis of these conditions will contribute to overall understanding of eye development, improve the quality of care, genetic counseling and, in future, gene-based therapies.


Asunto(s)
Afaquia/genética , Factores de Transcripción Forkhead/genética , Predisposición Genética a la Enfermedad , Microftalmía/genética , Alelos , Afaquia/fisiopatología , Discapacidades del Desarrollo/genética , Discapacidades del Desarrollo/fisiopatología , Anomalías del Ojo/genética , Anomalías del Ojo/fisiopatología , Femenino , Humanos , Masculino , Microftalmía/fisiopatología , Mutación
7.
Water Res ; 123: 594-606, 2017 10 15.
Artículo en Inglés | MEDLINE | ID: mdl-28709104

RESUMEN

Passive water treatments based on biological attenuation can be effective for arsenic-rich acid mine drainage (AMD). However, the key factors driving the biological processes involved in this attenuation are not well-known. Here, the efficiency of arsenic (As) removal was investigated in a bench-scale continuous flow channel bioreactor treating As-rich AMD (∼30-40 mg L-1). In this bioreactor, As removal proceeds via the formation of biogenic precipitates consisting of iron- and arsenic-rich mineral phases encrusting a microbial biofilm. Ferrous iron (Fe(II)) oxidation and iron (Fe) and arsenic removal rates were monitored at two different water heights (4 and 25 mm) and with/without forced aeration. A maximum of 80% As removal was achieved within 500 min at the lowest water height. This operating condition promoted intense Fe(II) microbial oxidation and subsequent precipitation of As-bearing schwertmannite and amorphous ferric arsenate. Higher water height slowed down Fe(II) oxidation, Fe precipitation and As removal, in relation with limited oxygen transfer through the water column. The lower oxygen transfer at higher water height could be partly counteracted by aeration. The presence of an iridescent floating film that developed at the water surface was found to limit oxygen transfer to the water column and delayed Fe(II) oxidation, but did not affect As removal. The bacterial community structure in the biogenic precipitates in the bottom of the bioreactor differed from that of the inlet water and was influenced to some extent by water height and aeration. Although potential for microbial mediated As oxidation was revealed by the detection of aioA genes, removal of Fe and As was mainly attributable to microbial Fe oxidation activity. Increasing the proportion of dissolved As(V) in the inlet water improved As removal and favoured the formation of amorphous ferric arsenate over As-sorbed schwertmannite. This study proved the ability of this bioreactor-system to treat extreme As concentrations and may serve in the design of future in-situ bioremediation system able to treat As-rich AMD.


Asunto(s)
Arsénico , Reactores Biológicos , Hierro , Purificación del Agua , Minería , Oxidación-Reducción , Contaminantes Químicos del Agua
8.
Microb Ecol ; 72(3): 608-20, 2016 10.
Artículo en Inglés | MEDLINE | ID: mdl-27535039

RESUMEN

Microscopic eukaryotes play a key role in ecosystem functioning, but their diversity remains largely unexplored in most environments. To advance our knowledge of eukaryotic microorganisms and the factors that structure their communities, high-throughput sequencing was used to characterize their diversity and spatial distribution along the pollution gradient of the acid mine drainage at Carnoulès (France). A total of 16,510 reads were retrieved leading to the identification of 323 OTUs after normalization. Phylogenetic analysis revealed a quite diverse eukaryotic community characterized by a total of eight high-level lineages including 37 classes. The majority of sequences were clustered in four main groups: Fungi, Stramenopiles, Alveolata and Viridiplantae. The Reigous sediments formed a succession of distinct ecosystems hosting contrasted eukaryotic communities whose structure appeared to be at least partially correlated with sediment mineralogy. The concentration of arsenic in the sediment was shown to be a significant factor driving the eukaryotic community structure along this continuum.


Asunto(s)
Arsénico/análisis , Biodiversidad , Contaminación Ambiental/análisis , Eucariontes/clasificación , Eucariontes/genética , Eucariontes/aislamiento & purificación , Sedimentos Geológicos/química , Ensayos Analíticos de Alto Rendimiento , Alveolados/clasificación , Alveolados/genética , Alveolados/aislamiento & purificación , Secuencia de Bases , Clasificación , ADN , Ecología , Ecosistema , Francia , Hongos/clasificación , Hongos/genética , Hongos/aislamiento & purificación , Concentración de Iones de Hidrógeno , Minería , Filogenia , ARN Ribosómico 18S/genética , Ríos , Análisis de Secuencia , Estramenopilos/clasificación , Estramenopilos/genética , Estramenopilos/aislamiento & purificación , Viridiplantae/clasificación , Viridiplantae/genética , Contaminantes Químicos del Agua/análisis , Contaminación del Agua
9.
Am J Med Genet A ; 167(7): 1587-92, 2015 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-25899569

RESUMEN

Mowat-Wilson syndrome (MWS) is a rare genetic syndrome characterized by a specific facial gestalt, intellectual deficiency, Hirschsprung disease and multiple congenital anomalies. Heterozygous mutations or deletions in the zinc finger E-box-binding homeobox2 gene (ZEB2) cause MWS. ZEB2 encodes for Smad-interacting protein 1, a transcriptional co-repressor involved in TGF-beta and BMP pathways and is strongly expressed in early stages of development in mice. Eye abnormalities have rarely been described in patients with this syndrome. Herein, we describe four patients (two males and two females; mean age 7 years) with MWS and eye malformations. Ocular anomalies included, iris/retinal colobomas, atrophy or absence of the optic nerve, hyphema, and deep refraction troubles, sometimes with severe visual consequences. All eye malformations were asymmetric and often unilateral and all eye segments were affected, similarly to the nine MWS cases with ophthalmological malformations previously reported (iris/chorioretinal/optic disc coloboma, optic nerve atrophy, retinal epithelium atrophy, cataract, and korectopia). In human embryo, ZEB2 is expressed in lens and neural retina. Using the present report and data from the literature, we set out to determine whether or not the presence of eye manifestations could be due to specific type or location of mutations. We concluded that the presence of eye malformations, although a rare feature in MWS, should be considered as a part of the clinical spectrum of the condition.


Asunto(s)
Ojo/patología , Enfermedad de Hirschsprung/genética , Enfermedad de Hirschsprung/patología , Proteínas de Homeodominio/genética , Discapacidad Intelectual/genética , Discapacidad Intelectual/patología , Microcefalia/genética , Microcefalia/patología , Proteínas Represoras/genética , Adolescente , Atrofia/patología , Catarata/patología , Preescolar , Coloboma/patología , Facies , Femenino , Humanos , Masculino , Mutación/genética , Nervio Óptico/patología , Epitelio Pigmentado de la Retina/patología , Caja Homeótica 2 de Unión a E-Box con Dedos de Zinc
11.
Eur J Med Genet ; 58(3): 148-53, 2015 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-25595573

RESUMEN

The cobalamin type C deficiency is a rare condition that results from impaired biosynthesis of both methylcobalamin (MeCbl) and adenosylcobalamin (AdoCbl). Hemizygous mutations of the HCFC1 gene explain the majority of clinically and biologically compatible cblC patients without MMACHC mutations (OMIM 309541). We report a family with two maternal half-brothers with multiple congenital anomalies and HCFC1 gene mutation in the second Kelch domain. Both presented with dysmorphic features (flat profile, cleft lip for one), increased nuchal translucency, prenatal onset microcephaly and hypospadias. Additionally to early onset intractable epilepsy and profound neurocognitive impairment, this familial observation suggests that HCFC1 gene should be considered in boys with midline malformations, even without proven cobalamin C deficiency.


Asunto(s)
Anomalías Múltiples/genética , Factor C1 de la Célula Huésped/genética , Deficiencia de Vitamina B 12/genética , Anomalías Múltiples/diagnóstico , Proteínas Portadoras/genética , Proteínas Portadoras/metabolismo , Preescolar , Labio Leporino/genética , Cobamidas/biosíntesis , Hibridación Genómica Comparativa , Pruebas Genéticas , Factor C1 de la Célula Huésped/metabolismo , Humanos , Cariotipificación , Masculino , Mutación , Oxidorreductasas , Vitamina B 12/análogos & derivados , Vitamina B 12/biosíntesis , Deficiencia de Vitamina B 12/diagnóstico
12.
J Pathol ; 229(3): 400-9, 2013 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-23132766

RESUMEN

Our group recently described recurrent somatic mutations of the miRNA processing gene DICER1 in non-epithelial ovarian cancer. Mutations appeared to be clustered around each of four critical metal-binding residues in the RNase IIIB domain of DICER1. This domain is responsible for cleavage of the 3' end of the 5p miRNA strand of a pre-mRNA hairpin. To investigate the effects of these cancer-associated 'hotspot' mutations, we engineered mouse DICER1-deficient ES cells to express wild-type and an allelic series of the mutant DICER1 variants. Global miRNA and mRNA profiles from cells carrying the metal-binding site mutations were compared to each other and to wild-type DICER1. The miRNA and mRNA profiles generated through the expression of the hotspot mutations were virtually identical, and the DICER1 hotspot mutation-carrying cells were distinct from both wild-type and DICER1-deficient cells. Further, miRNA profiles showed that mutant DICER1 results in a dramatic loss in processing of mature 5p miRNA strands but were still able to create 3p strand miRNAs. Messenger RNA (mRNA) profile changes were consistent with the loss of 5p strand miRNAs and showed enriched expression for predicted targets of the lost 5p-derived miRNAs. We therefore conclude that cancer-associated somatic hotspot mutations of DICER1, affecting any one of four metal-binding residues in the RNase IIIB domain, are functionally equivalent with respect to miRNA processing and are hypomorphic alleles, yielding a global loss in processing of mature 5p strand miRNA. We further propose that this resulting 3p strand bias in mature miRNA expression likely underpins the oncogenic potential of these hotspot mutations.


Asunto(s)
ARN Helicasas DEAD-box/genética , MicroARNs/genética , Mutación , Neoplasias Ováricas/genética , Procesamiento Postranscripcional del ARN/fisiología , ARN Mensajero/metabolismo , Ribonucleasa III/genética , Animales , ARN Helicasas DEAD-box/metabolismo , Análisis Mutacional de ADN , Femenino , Regulación Neoplásica de la Expresión Génica , Humanos , Ratones , Neoplasias Ováricas/patología , ARN Interferente Pequeño/metabolismo , Ribonucleasa III/metabolismo , Células Tumorales Cultivadas
13.
Pharmacogenomics J ; 13(2): 148-58, 2013 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-22249354

RESUMEN

The drug fluorouracil (5-FU) is a widely used antimetabolite chemotherapy in the treatment of colorectal cancer. The gene uridine monophosphate synthetase (UMPS) is thought to be primarily responsible for conversion of 5-FU to active anticancer metabolites in tumor cells. Mutation or aberrant expression of UMPS may contribute to 5-FU resistance during treatment. We undertook a characterization of UMPS mRNA isoform expression and sequence variation in 5-FU-resistant cell lines and drug-naive or -exposed primary and metastatic tumors. We observed reciprocal differential expression of two UMPS isoforms in a colorectal cancer cell line with acquired 5-FU resistance relative to the 5-FU-sensitive cell line from which it was derived. A novel isoform arising as a consequence of exon skipping was increased in abundance in resistant cells. The underlying mechanism responsible for this shift in isoform expression was determined to be a heterozygous splice site mutation acquired in the resistant cell line. We developed sequencing and expression assays to specifically detect alternative UMPS isoforms and used these to determine that UMPS was recurrently disrupted by mutations and aberrant splicing in additional 5-FU-resistant colorectal cancer cell lines and colorectal tumors. The observed mutations, aberrant splicing and downregulation of UMPS represent novel mechanisms for acquired 5-FU resistance in colorectal cancer.


Asunto(s)
Neoplasias Colorrectales/genética , Fluorouracilo/administración & dosificación , Complejos Multienzimáticos/genética , Orotato Fosforribosiltransferasa/genética , Orotidina-5'-Fosfato Descarboxilasa/genética , Isoformas de ARN/genética , ARN Mensajero/genética , Empalme Alternativo/genética , Línea Celular Tumoral , Neoplasias Colorrectales/tratamiento farmacológico , Regulación hacia Abajo , Resistencia a Antineoplásicos/genética , Fluorouracilo/efectos adversos , Regulación Neoplásica de la Expresión Génica/efectos de los fármacos , Humanos , Complejos Multienzimáticos/metabolismo , Mutación , Orotato Fosforribosiltransferasa/metabolismo , Orotidina-5'-Fosfato Descarboxilasa/metabolismo
14.
Extremophiles ; 16(4): 645-57, 2012 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-22714283

RESUMEN

The Carnoulès mine is an extreme environment located in the South of France. It is an unusual ecosystem due to its acidic pH (2-3), high concentration of heavy metals, iron, and sulfate, but mainly due to its very high concentration of arsenic (up to 10 g L⁻¹ in the tailing stock pore water, and 100-350 mg L⁻¹ in Reigous Creek, which collects the acid mine drainage). Here, we present a survey of the archaeal community in the sediment and its temporal variation using a culture-independent approach by cloning of 16S rRNA encoding genes. The taxonomic affiliation of Archaea showed a low degree of biodiversity with two different phyla: Euryarchaeota and Thaumarchaeota. The archaeal community varied in composition and richness throughout the sampling campaigns. Many sequences were phylogenetically related to the order Thermoplasmatales represented by aerobic or facultatively anaerobic, thermoacidophilic autotrophic or heterotrophic organisms like the organotrophic genus Thermogymnomonas. Some members of Thermoplasmatales can also derive energy from sulfur/iron oxidation or reduction. We also found microorganisms affiliated with methanogenic Archaea (Methanomassiliicoccus luminyensis), which are involved in the carbon cycle. Some sequences affiliated with ammonia oxidizers, involved in the first and rate-limiting step in nitrification, a key process in the nitrogen cycle were also observed, including Candidatus Nitrososphaera viennensis and Candidatus nitrosopumilus sp. These results suggest that Archaea may be important players in the Reigous sediments through their participation in the biochemical cycles of elements, including those of carbon and nitrogen.


Asunto(s)
Archaea , Arsénico/metabolismo , Biodiversidad , Agua Subterránea/microbiología , Microbiología del Agua , Archaea/clasificación , Archaea/genética , Archaea/aislamiento & purificación , Archaea/metabolismo , Arsénico/química , Francia , Concentración de Iones de Hidrógeno , Filogenia , ARN de Archaea , ARN Ribosómico 16S
15.
Oncogene ; 31(10): 1334-40, 2012 Mar 08.
Artículo en Inglés | MEDLINE | ID: mdl-21804605

RESUMEN

ETV6-NTRK3 (EN), a chimeric tyrosine kinase generated by t(12;15) translocations, is a dominantly acting oncoprotein in diverse tumor types. We previously showed that insulin-like growth factor 1 receptor (IGF1R) is essential for EN-mediated oncogenesis and that insulin receptor substrate 1 (IRS1) is constitutively tyrosine phosphorylated and bound by EN in transformed cells. Given that IRS1 is also an adapter for IGF1R, we hypothesized that IRS1 might localize EN to IGF1R at the membrane to activate phosphatidylinositol 3-kinase (PI3K)-Akt, which is critical for EN oncogenesis. In this study, we examined EN/IRS1/IGF1R complexes in detail. We find that both IRS1 and kinase active IGF1R are required for EN transformation, that tyrosine phosphorylated IRS1 is present in high molecular weight complexes with EN and IGF1R, and that EN colocalizes with IGF1R at the plasma membrane. Both IGF1R kinase activity and an intact cytoplasmic Y950 residue, the IRS1-docking site of IGF1R, are required, confirming the importance of the IGF1R/IRS1 interaction for EN oncogenesis. The dual specificity IGF1R and insulin receptor (INSR) inhibitor, BMS-536924, blocks EN transformation activity, cell survival and its interaction with IRS proteins, and induces a striking shift of EN proteins to smaller sized molecular complexes. We conclude that a tripartite complex of EN, IRS1 and IGF1R localizes EN to the membrane and that this is essential for EN-mediated transformation. These findings provide an explanation for the observed IGF1R dependency of EN transformation. Blocking IGF1R kinase activity may, therefore, provide a tractable therapeutic strategy for the many tumor types driven by the EN oncoprotein.


Asunto(s)
Membrana Celular/metabolismo , Transformación Celular Neoplásica , Proteínas Sustrato del Receptor de Insulina/fisiología , Proteínas de Fusión Oncogénica/fisiología , Receptor IGF Tipo 1/fisiología , Animales , Interleucina-3/farmacología , Ratones , Fosforilación
16.
Geobiology ; 7(3): 373-84, 2009 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-19573166

RESUMEN

In phosphate-rich environments, vivianite (Fe(II)(3)(PO(4))(2), 8H(2)O) is an important sink for dissolved Fe(II) and is considered as a very stable mineral due to its low solubility at neutral pH. In the present study, we report the mineralogical transformation of vivianite in cultures of the nitrate-reducing iron-oxidizing bacterial strain BoFeN1 in the presence of dissolved Fe(II). Vivianite was first transformed into a greenish phase consisting mostly of an amorphous mixed valence Fe-phosphate. This precipitate became progressively orange and the final product of iron oxidation consisted of an amorphous Fe(III)-phosphate. The sub-micrometer analysis by scanning transmission X-ray microscopy of the iron redox state in samples collected at different stages of the culture indicated that iron was progressively oxidized at the contact of the bacteria and at a distance from the cells in extracellular minerals. Iron oxidation in the extracellular minerals was delayed by a few days compared with cell-associated Fe-minerals. This led to strong differences of Fe redox in between these two types of minerals and finally to local heterogeneities of redox within the sample. In the absence of dissolved Fe(II), vivianite was not significantly transformed by BoFeN1. Whereas Fe(II) oxidation at the cell contact is most probably directly catalyzed by the bacteria, vivianite transformation at a distance from the cells might result from oxidation by nitrite. In addition, processes leading to the export of Fe(III) from bacterial oxidation sites to extracellular minerals are discussed including some involving colloids observed by cryo-transmission electron microscopy in the culture medium.


Asunto(s)
Bacterias/metabolismo , Compuestos Ferrosos/metabolismo , Fosfatos/metabolismo , Anaerobiosis , Biotransformación , Compuestos Férricos/metabolismo , Nitratos/metabolismo , Oxidación-Reducción
17.
Sci Total Environ ; 397(1-3): 178-89, 2008 Jul 01.
Artículo en Inglés | MEDLINE | ID: mdl-18406447

RESUMEN

An impacted soil located near an industrial waste site in the Massif Central near Auzon, France, where arsenical pesticides were manufactured, has been studied in order to determine the speciation (chemical forms) of arsenic as a function of soil depth. Bulk As concentrations range from 8780 mg kg(-1) in the topsoil horizon to 150 mg kg(-1) at 60 cm depth. As ores (orpiment As2S3, realgar AsS, arsenopyrite FeAsS) and former Pb- and Al-arsenate pesticides have been identified by XRD at the site and are suspected to be the sources of As contamination for this soil. As speciation was found to vary with depth, based on XRD, SEM-EDS, EPMA measurements and selective chemical extractions. Based on oxalate extraction, As is mainly associated with amorphous Fe oxides through the soil profile, except in the topsoil horizons where As is hosted by another phase. SEM-EDS and EPMA analyses led to the identification of arseniosiderite (Ca2Fe3+3(AsVO4)3O2.3H2O), a secondary mineral that forms upon oxidation of primary As-bearing minerals like arsenopyrite, in these topsoil horizons. These mineralogical and chemical results were confirmed by synchrotron-based X-ray absorption spectroscopy. XANES spectra of soil samples indicate that As occurs exclusively as As(V), and EXAFS results yield direct evidence of changes in As speciation with depth. Linear combination fits of EXAFS spectra of soil samples with those of various model compounds indicate that As occurs mainly As-bearing Fe(III)-(hydr)oxides (65%) and arseniosiderite (35%) in the topsoil horizon (0-5 cm depth). Similar analyses also revealed that there is very little arseniosiderite below 15 cm depth and that As(V) is associated primarily with amorphous Fe oxides below this depth. This vertical change of As speciation likely reflects a series of chemical reactions downward in the soil profile. Arseniosiderite, formed most likely by oxidation of arsenopyrite, is progressively dissolved and replaced by less soluble As-bearing poorly ordered Fe oxides, which are the main hosts for As in well aerated soils.

18.
Arch Pediatr ; 15(1): 33-6, 2008 Jan.
Artículo en Francés | MEDLINE | ID: mdl-18162385

RESUMEN

UNLABELLED: Neonates with Down's syndrome have an increased risk for congenital leukaemia, particularly acute megakaryoblastic leukaemia (FAB, M7) which most often resolves spontaneously and is called transient leukaemia. It can be observed in non-constitutional trisomy 21 infants then presenting trisomy 21 on blasts cells. OBSERVATION: We report a transient leukaemia with an isolated pericardial effusion in a phenotypically normal neonate. Trisomy 21 was found on blasts cells. Complete remission remains after 32 months. DISCUSSION: Congenital leukaemias, with trisomy 21 on blasts cells have a good prognosis that justifies observation before using chemotherapy.


Asunto(s)
Síndrome de Down/complicaciones , Leucemia Megacarioblástica Aguda/congénito , Antígenos CD/análisis , Síndrome de Down/patología , Humanos , Lactante , Leucemia Megacarioblástica Aguda/patología , Masculino , Remisión Espontánea
19.
Neurology ; 68(2): 99-109, 2007 Jan 09.
Artículo en Inglés | MEDLINE | ID: mdl-17151339

RESUMEN

BACKGROUND: Pompe disease is a progressive metabolic neuromuscular disorder resulting from deficiency of lysosomal acid alpha-glucosidase (GAA). Infantile-onset Pompe disease is characterized by cardiomyopathy, respiratory and skeletal muscle weakness, and early death. The safety and efficacy of recombinant human (rh) GAA were evaluated in 18 patients with rapidly progressing infantile-onset Pompe disease. METHODS: Patients were diagnosed at 6 months of age and younger and exhibited severe GAA deficiency and cardiomyopathy. Patients received IV infusions of rhGAA at 20 mg/kg (n = 9) or 40 mg/kg (n = 9) every other week. Analyses were performed 52 weeks after the last patient was randomized to treatment. RESULTS: All patients (100%) survived to 18 months of age. A Cox proportional hazards analysis demonstrated that treatment reduced the risk of death by 99%, reduced the risk of death or invasive ventilation by 92%, and reduced the risk of death or any type of ventilation by 88%, as compared to an untreated historical control group. There was no clear advantage of the 40-mg/kg dose with regard to efficacy. Eleven of the 18 patients experienced 164 infusion-associated reactions; all were mild or moderate in intensity. CONCLUSIONS: Recombinant human acid alpha-glucosidase is safe and effective for treatment of infantile-onset Pompe disease. Eleven patients experienced adverse events related to treatment, but none discontinued. The young age at which these patients initiated therapy may have contributed to their improved response compared to previous trials with recombinant human acid alpha-glucosidase in which patients were older.


Asunto(s)
Enfermedad del Almacenamiento de Glucógeno Tipo II/tratamiento farmacológico , Enfermedad del Almacenamiento de Glucógeno Tipo II/mortalidad , Cuidados Paliativos/estadística & datos numéricos , Medición de Riesgo/métodos , Cuidado Terminal/estadística & datos numéricos , alfa-Glucosidasas/administración & dosificación , Relación Dosis-Respuesta a Droga , Europa (Continente)/epidemiología , Humanos , Lactante , Recién Nacido , Israel/epidemiología , Análisis de Supervivencia , Tasa de Supervivencia , Taiwán/epidemiología , Resultado del Tratamiento , Estados Unidos/epidemiología
20.
Sci Total Environ ; 347(1-3): 122-30, 2005 Jul 15.
Artículo en Inglés | MEDLINE | ID: mdl-16084973

RESUMEN

Reigous acid creek originating from the Carnoulès tailings impoundment supplies high concentrations of arsenic under soluble (up to approximately 4 mg/l) and particulate (up to 150 mgAs/g) phases to the Amous river, situated at the drainage basin of the Rhône river (Southern France). The metalloid is present as As(III) (>95%) in Reigous creek water while As(V) predominates (50-80%) in the solid phase, i.e. schwertmannite. At the confluence between acid (pH<5) creek and alkaline Amous river, As(III) concentrations decrease ten-fold through dilution and formation of As-rich ferrihydrite (As/Fe=0.02-0.1) containing 10-30% As(III). However, these attenuation processes are not efficient in the summer heatwave of 2003 since As concentrations in Amous river water (>or=20 microg/l) and As/Fe ratios in particulate matter (>or=0.07) are closed to those of Reigous creek (

Asunto(s)
Arsénico/análisis , Arsénico/química , Minería , Ríos/química , Contaminantes Químicos del Agua/análisis , Adsorción , Monitoreo del Ambiente , Francia , Sedimentos Geológicos/química , Residuos Industriales , Hierro/análisis , Hierro/química , Plomo , Oxidación-Reducción , Estaciones del Año , Movimientos del Agua , Zinc
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