753 research outputs found

    Nickel and cobalt adsorption on hydroxyapatite: a study for the de-metalation of electronic industrial wastewaters

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    In the present study, the Ni(II) and Co(II) adsorption efficiency and selectivity, as well adsorption mechanisms on a stoichiometric hydroxyapatite (HAP) surface have been investigated. Characterization studies (N-2 adsorption/desorption and X-ray powder diffraction (XRPD) analyses) and adsorption tests under various operative conditions provided detailed information about the use of HAP in the de-metalation of wastewaters containing Ni and Co as polluted metal species. The sorption capacity of HAP has been evaluated by static batch adsorption tests varying initial concentration of Ni(II) and Co(II) species (from ca. 0.25 to 4.3mM), contact time (from 15min to 24h), and pH (from 4 to 9) operative parameters. Proposed mechanisms of adsorption of Ni(II) and Co(II) on HAP surface are ion-exchange and surface complexation; a partial contribution of chemical precipitation from bulk solution should be considered at pH 9. In addition, adsorption isotherms of Ni(II) and Co(II) on HAP have been collected at 30 degrees C and pH 4 and modeled by employing different equations. The maximum sorption capacities have been quantified as 0.317mmolgHAP-1 (18.6mggHAP-1) and 0.382mmolgHAP-1 (22.5mggHAP-1) for Ni(II) and Co(II), respectively. Selectivity to Co and Ni in the adsorption process on HAP has also been investigated; HAP has higher affinity towards Co than Ni species (Co:Ni=2.5:1, molar ratio)

    Hydroxyapatite-Based Electrodes for Metal Detection in Wastewater

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    Hydroxyapatite (HAp) is a biocompatible versatile material of formula Ca10(PO4)6(OH)2, insoluble in water within a wide pH range, chemically stable, relatively cheap and largely available. This mineral calcium phosphate has caught attention of scientists working in different fields of applied science, from medical engineering, to catalysis and pollution remediation. For environmental application, the absorbent nature of HAp is, probably, the most valuable feature. In particular, heavy metal retention ability is attributed to ion-exchange (Ca2+/ metal ion), surface adsorption/complexation, dissolution-precipitation mechanism, with single or combined action depending on the metal nature. Combining intrinsic affinities of HAp for metals with ductility of electrochemistry is a valuable route to develop monitoring systems and/or pollution remediation protocols. In doing so, the main obstacle for the exploitation of HAp as electrode materials is its electrical insulation nature. To overcome this limitation combination with conductive substrate is necessary, preparing either blends or composite materials. In this context, a series of carbon-containing hydroxyapatite composites (C-HAp) have been prepared by co-precipitation synthesis, by varying the conductive carbon source. The prepared materials have been characterized by various physical-chemical techniques (FT-IR spectroscopy, XRPD, TEM-EDX, N2-adsorption/desorption analyses) and the electrical conductivity has been determined as a function of the carbon source. The most promising C-HAp composites have been used as electrode substrates to quantify some of the common heavy metals found in waste water from urban and/or industrial sites (e.g., Pb2+, Cd2+, Cu2+, Zn2+) using cyclic and differential voltammetry techniques. The sensitivity of C-HAp electrodes was compared with that of glassy carbon ones, chosen as reference material. Different electrode geometries have been taken into consideration (C-HAp powder pressed into a cavity electrode, or free-standing C-HAp one). The work is still in progress and among possible alternative routes we are going to prepare directly HAp-based electrodes by in situ electrodeposition of calcium phosphate on low cost electron collectors such as steel. The final aim is to employ the HAp-based electrode as cathode in microbial fuel cells that could act as sensors for the on-line detection of metal traces in the treated wastes

    Influence of the Nb/P ratio of acidic Nb-P-Si oxides on surface and catalytic properties

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    In this work, two acidic Nb-P-Si mixed oxide gel-derived materials characterized by Nb/P molar ratios equal to 2 (5Nb2.5 P) and 1 (2.5NbP) were investigated for their surface and bulk properties in relation with the catalytic performances in the fructose dehydration reaction. The structural characteristics of the studied samples and the changes occurring after water treatment and after reaction were investigated by 29Si and 31P solid state nuclear magnetic resonance (MAS-NMR) and X-ray photoelectron (XPS) spectroscopies, while the characterization of their acidic properties was performed by base (2-phenylethylamine) adsorption in liquid phase. MAS-NMR showed that the phosphorus remains firmly anchored into the siloxane matrix after exposure to cold water for 5Nb2.5 P sample and XPS confirmed the homogeneity of the sample composition. Both samples exhibited good intrinsic acidity and maintained significant effective acidity in polar-protic liquids; 2.5NbP manifested a double amount of acid sites compared to 5Nb2.5 P, when 2-phenylethylamine is used as probe. Fructose dehydration to 5-(hydroxymethyl)furfural (HMF) on the two gel-derived catalysts was performed in water and in water-isopropanol solution under mild conditions (130 °C) working in a recirculation reaction line comprising a tubular catalytic reactor. In water-isopropanol solution, the samples displayed good performances, as expected thanks to the lively effective acidity. Around 45-50% fructose conversion was attained on both samples, with selectivity to HMF equal to about 50% on 2.5NbP gel-derived catalyst. Recycling tests showed satisfactorily stable activity during three consecutive runs

    Molecular Etiology Disclosed by Array CGH in Patients With Silver–Russell Syndrome or Similar Phenotypes

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    Introduction: Silver-Russell syndrome (SRS) is an imprinting disorder primarily caused by genetic and epigenetic aberrations on chromosomes 11 and 7. SRS is a rare growth retardation disorder often misdiagnosed due to its heterogeneous and non-specific clinical features. The Netchine-Harbison clinical scoring system (NH-CSS) is the recommended tool for differentiating patients into clinical SRS or unlikely SRS. However, the clinical diagnosis is molecularly confirmed only in about 60% of patients, leaving the remaining substantial proportion of SRS patients with unknown genetic etiology. Materials and Methods: A cohort of 34 Italian patients with SRS or SRS-like features scored according to the NH-CSS and without any SRS-associated (epi)genetic alterations was analyzed by high-resolution array-based comparative genomic hybridization (CGH) in order to identify potentially pathogenic copy number variants (CNVs). Results and Discussion: In seven patients, making up 21% of the initial cohort, five pathogenic and two potentially pathogenic CNVs were found involving distinct genomic regions either previously associated with growth delay conditions (1q24.3-q25.3, 17p13.3, 17q22, and 22q11.2-q11.22) and with SRS spectrum (7p12.1 and 7p15.3-p14.3) or outlined for the first time (19q13.42), providing a better definition of reported and as yet unreported SRS overlapping syndromes. All the variants involve genes with a defined role in growth pathways, and for two genes mapping at 7p, IGF2BP3 and GRB10, the association with SRS turns out to be reinforced. The deleterious effect of the two potentially pathogenic variants, comprising GRB10 and ZNF331 genes, was explored by targeted approaches, though further studies are needed to validate their pathogenic role in the SRS etiology. In conclusion, we reconfirm the utility of performing a genome-wide scan to achieve a differential diagnosis in patients with SRS or similar features and to highlight novel chromosome alterations associated with SRS and growth retardation disorders

    Generation of the Becker muscular dystrophy patient derived induced pluripotent stem cell line carrying the DMD splicing mutation c.1705-8 T>C

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    Becker Muscular dystrophy (BMD) is an X-linked syndrome characterized by progressive muscle weakness. BMD is generally less severe than Duchenne Muscular Dystrophy. BMD is caused by mutations in the dystrophin gene that normally give rise to the production of a truncated but partially functional dystrophin protein. We generated an induced pluripotent cell line from dermal fibroblasts of a BMD patient carrying a splice mutation in the dystrophin gene (c.1705-8 T>C). The iPSC cell-line displayed the characteristic pluripotent-like morphology, expressed pluripotency markers, differentiated into cells of the three germ layers and had a normal karyotype

    Citizen Science and Open Data: a model for Invasive Alien Species in Europe

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    Invasive Alien Species (IAS) are a growing threat to Europe's biodiversity. The implementation of European Union Regulation on IAS can benefit from the involvement of the public in IAS recording and management through Citizen Science (CS) initiatives. Aiming to tackle issues related with the use of CS projects on IAS topics, a dedicated workshop titled “Citizen Science and Open Data: a model for Invasive Alien Species in Europe” was organized by the Joint Research Centre (JRC) and the European Cooperation in Science and Technology (COST Association). Fifty key stakeholders from all Europe, including two Members of the European Parliament, attended the workshop. With a clear focus on IAS, the workshop aimed at addressing the following issues: a) CS and policy, b) citizen engagement, and c) CS data management. Nine short presentations provided input on CS and IAS issues. Participants discussed specific topics in several round tables (“world café” style) and reported back their conclusions to the audience and full assembly moderated discussions. Overall, the workshop enabled the sharing of ideas, approaches and best practices regarding CS and IAS. Specific opportunities and pitfalls of using CS data in the whole policy cycle for IAS were recognized. Concerning the implementation of the IAS Regulation, CS data could complement official surveillance systems, and contribute to the early warning of the IAS of Union concern after appropriate validation by the Member States’ competent authorities. CS projects can additionally increase awareness and empower citizens. Attendees pointed out the importance for further public engagement in CS projects on IAS that demonstrate specific initiatives and approaches and analyze lessons learned from past experiences. In addition, the workshop noted that the data gathered from different CS projects on IAS are fragmented. It highlighted the need for using an open and accessible platform to upload data originating from CS sources or to mirror validated data into a single, easy-to-use web service, in line with the EU Open Science Strategic Priority. The workshop provided ten key recommendations of best practices for CS projects on IAS, addressed to researchers, policy makers and implementing authorities, indicating future research and policy directions and opportunities

    Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene

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    AMPA-type glutamate receptors (AMPARs) are postsynaptic ionotropic receptors which mediate fast excitatory currents. AMPARs have a heterotetrameric structure, variably composed by the four subunits GluA1-4 which are encoded by genes GRIA1-4. Increasing evidence support the role of pathogenic variants in GRIA1-4 genes as causative for syndromic intellectual disability (ID). We report an Italian pedigree where some male individuals share ID, seizures and facial dysmorphisms. The index subject was referred for severe ID, myoclonic seizures, cerebellar signs and short stature. Whole exome sequencing identified a novel variant in GRIA3, c.2360A > G, p.(Glu787Gly). The GRIA3 gene maps to chromosome Xq25 and the c.2360A > G variant was transmitted by his healthy mother. Subsequent analysis in the family showed a segregation pattern compatible with the causative role of this variant, further supported by preliminary functional insights. We provide a detailed description of the clinical evolution of the index subjects and stress the relevance of myoclonic seizures and cerebellar syndrome as cardinal features of his presentation

    Deuterium retention and erosion in liquid Sn samples exposed to D2 and Ar plasmas in GyM device

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    The use of tin (Sn) as a liquid metal for plasma facing components has been recently proposed as a solution to the high heat load issue on the divertor target plates in nuclear fusion reactors. Due to its low vapor pressure, low reactivity with hydrogen and good resilience to neutron impact, tin is a good candidate as plasma facing component. However its high atomic number poses concerns about plasma contamination.In this paper two fundamental aspects have been investigated: deuterium retention and erosion fluxes from the Sn surface towards the plasma. The samples were exposed to plasma inside the linear machine GyM in magnetic cusp configuration. This setup permits to expose free liquid specimens without the need for the Capillary Porous System. Moreover it permits to lower the magnetic field in order to increase Sn Larmor radius and consequently limit Sn re-deposition in erosion experiments.Ex-situ analyses by ion beam diagnostics on solid samples exposed to deuterium plasma have proved that the amount of retained atomic deuterium is very low, approximately 0.18 at% estimated by Nuclear Reaction Analysis and 0.25 at% estimated by Elastic Recoil Detection Analysis.In the framework of erosion studies, the spectroscopic parameter S/XB was evaluated in Ar plasma for the SnI line at 380.1 nm by Optical Emission Spectroscopy and mass loss measurements in the 5–11 eV Te range, at a density ne ∼ 1.5 × 1011 cm−3. An average value of 150 ± 23 was obtained. Keywords: Liquid metals, Deuterium retention, Erosion, Double-cusp magnetic configuration, Ion beam diagnostics, S/XB spectroscopic paramete

    Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes

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    Lysine-specific methyltransferase 2A (KMT2A) is responsible for methylation of histone H3 (K4H3me) and contributes to chromatin remodeling, acting as \u201cwriter\u201d of the epigenetic machinery. Mutations in KMT2A were first reported in Wiedemann\u2013Steiner syndrome (WDSTS). More recently, KMT2A variants have been described in probands with a specific clinical diagnosis comprised in the so-called chromatinopathies. Such conditions, including WDSTS, are a group of overlapping disorders caused by mutations in genes coding for the epigenetic machinery. Among them, Rubinstein\u2013Taybi syndrome (RSTS) is mainly caused by heterozygous pathogenic variants in CREBBP or EP300. In this work, we used next generation sequencing (either by custom-made panel or by whole exome) to identify alternative causative genes in individuals with a RSTS-like phenotype negative to CREBBP and EP300 mutational screening. In six patients we identified different novel unreported variants in KMT2A gene. The identified variants are de novo in at least four out of six tested individuals and all of them display some typical RSTS phenotypic features but also WDSTS specific signs. This study reinforces the concept that germline variants affecting the epigenetic machinery lead to a shared molecular effect (alteration of the chromatin state) determining superimposable clinical conditions
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