133 research outputs found

    Effects of Phenol Addition on Oil Extraction from Moroccan Oil Shale by Supercritical Toluene

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    In the present work, the effect of phenol on the supercritical extraction of the organic matter from Tarfaya's oil shale with toluene was evaluated. The experimental results showed clearly that phenol had a significant effect on the yield and the composition of the oils obtained. Moreover, it was shown that phenol was a very efficient modifier for oil shale, giving a good yield of recovery and a suitable maturation of the organic matter. The pitches prepared by mixing phenol and toluene contain more aromatics and have a high char yield at 950 °C compared to those obtained by extraction with supercritical toluene alone

    Atypical clinical presentation of mucopolysaccharidosis type II (Hunter syndrome): a case report

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    <p>Abstract</p> <p>Introduction</p> <p>We present a very rare case of mucopolysaccharidosis with atypical presentation such as mild mental retardation, an acrocephalic head and no corneal clouding. The purpose of presenting this case is to highlight the distinctive manifestation of mucopolysaccharidosis type II (Hunter syndrome).</p> <p>Case presentation</p> <p>A 10-year-old East Asian boy presented with abdominal distension of five years' duration and complained of shortness of breath on and off for the same period. On examination his head was large and his head circumference was 54.5 cm. His neck was short, he had coarse facial features, a depressed nasal bridge and small stubby fingers with flexion of distal interphalangeal joints, and a low arched palate was observed. There was mild mental retardation.</p> <p>Conclusion</p> <p>Based on clinical findings and radiological features it is possible to diagnose a case of mucopolysaccharidosis.</p> <p>Careful and systemic approach is needed to accurately diagnose the exact type as enzymatic studies are not available in most centers.</p

    Comparison of chemical and physical activation processes at obtaining adsorbents from moroccan oil shale

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    Within the Moroccan natural resources valorisation scheme, new adsorbents have been prepared from oil shale by chemical and physical activation processes. The activation process the authors have developed in this study give effective adsorbent materials. In view of the physico-chemical properties of these materials and application to the treatment of water loaded with a metal (Cr6+ ion) or organic (methylene blue (MB)) pollutant, it is concluded that the chemical activation process of oil shale at low temperature (250 °C) affords the best material. The material’s yield is good in comparison with the physical activation at the same temperature and the process is energy saving differently from that at 450 °C. Moreover, the chemical activation of oil shale with phosphoric acid at 250 °C produces a material with a good yield (about 70%), a high specific surface area (approximately 600 m2 /g) and a highly porous structure, which gives it a high retention of methylene blue and the Cr6+ ion

    INSPEX: Make environment perception available as a portable system

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    International audienceObstacle avoidance systems for autonomous vehicles combine multiple sensing technologies (i.e. LiDAR, Radar, Ultrasound and Visual) to detect different types of obstacles across the full range of lighting and weather conditions. Sensor data are fused with vehicle orientation (obtained for instance from an Inertial Measurement Unit and/or compass) and navigation subsystems. Power hungry, they require powerful computational capability, which limits their use to high-end vehicles and robots. 2 INSPEX ambition The H2020 INSPEX project plans to make obstacle detection capabilities available as a personal portable multi-sensors, miniaturised, low power device. This device will detect, locate and warn of obstacles under different environmental conditions, in indoor/outdoor environments, with static and mobile obstacles. Potential applications range from safer human navigation in reduced visibility conditions (e.g. for first responders and fire brigades), small robot/drone obstacle avoidance systems to navigation for the visually and mobility impaired people. As primary demonstrator (Fig.1), we will plug the INSPEX device on a white cane (see Fig. 1) for Visually Impaired and Blind (VIB) people to detect obstacle over the whole person height, provide audio feedback about harmful obstacles, improve their mobility confidence and reduce injuries, especially at waist and head levels [1]. The device will offer a "safety cocoon" to its user

    Влияние интенсивности механической активации на структуру гексагонального нитрида бора

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    Изучено влияние интенсивности механической активации на микроструктуру и свойства гексагонального нитрида бора (hBN).Вивчено вплив інтенсивності механічної активації на мікроструктуру і властивості гексагонального нітриду бору (hBN).The mechanical activation intensity effect on the microstructure and properties of hexagonal boron nitride (hBN) has been studied

    INSPEX: design and integration of a portable/wearable smart spatial exploration system

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    The INSPEX H2020 project main objective is to integrate automotive-equivalent spatial exploration and obstacle detection functionalities into a portable/wearable multi-sensor, miniaturised, low power device. The INSPEX system will detect and localise in real-time static and mobile obstacles under various environmental conditions in 3D. Potential applications range from safer human navigation in reduced visibility, small robot/drone obstacle avoidance systems to navigation for the visually/mobility impaired, this latter being the primary use-case considered in the project

    The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

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    Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. FANCM, which encodes for a DNA translocase, has been proposed as a breast cancer predisposition gene, with greater effects for the ER-negative and triple-negative breast cancer (TNBC) subtypes. We tested the three recurrent protein-truncating variants FANCM:p.Arg658*, p.Gln1701*, and p.Arg1931* for association with breast cancer risk in 67,112 cases, 53,766 controls, and 26,662 carriers of pathogenic variants of BRCA1 or BRCA2. These three variants were also studied functionally by measuring survival and chromosome fragility in FANCM (-/-) patient-derived immortalized fibroblasts treated with diepoxybutane or olaparib. We observed that FANCM:p.Arg658* was associated with increased risk of ER-negative disease and TNBC (OR = 2.44, P = 0.034 and OR = 3.79; P = 0.009, respectively). In a country-restricted analysis, we confirmed the associations detected for FANCM:p.Arg658* and found that also FANCM:p.Arg1931* was associated with ER-negative breast cancer risk (OR = 1.96; P = 0.006). The functional results indicated that all three variants were deleterious affecting cell survival and chromosome stability with FANCM:p.Arg658* causing more severe phenotypes. In conclusion, we confirmed that the two rare FANCM deleterious variants p.Arg658* and p.Arg1931* are risk factors for ER-negative and TNBC subtypes. Overall our data suggest that the effect of truncating variants on breast cancer risk may depend on their position in the gene. Cell sensitivity to olaparib exposure, identifies a possible therapeutic option to treat FANCM-associated tumors

    The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

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    Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. FANCM, which encodes for a DNA translocase, has been proposed as a breast cancer predisposition gene, with greater effects for the ER-negative and triple-negative breast cancer (TNBC) subtypes. We tested the three recurrent protein-truncating variants FANCM:p.Arg658*, p.Gln1701*, and p.Arg1931* for association with breast cancer risk in 67,112 cases, 53,766 controls, and 26,662 carriers of pathogenic variants of BRCA1 or BRCA2. These three variants were also studied functionally by measuring survival and chromosome fragility in FANCM−/− patient-derived immortalized fibroblasts treated with diepoxybutane or olaparib. We observed that FANCM:p.Arg658* was associated with increased risk of ER-negative disease and TNBC (OR = 2.44, P = 0.034 and OR = 3.79; P = 0.009, respectively). In a country-restricted analysis, we confirmed the associations detected for FANCM:p.Arg658* and found that also FANCM:p.Arg1931* was associated with ER-negative breast cancer risk (OR = 1.96; P = 0.006). The functional results indicated that all three variants were deleterious affecting cell survival and chromosome stability with FANCM:p.Arg658* causing more severe phenotypes. In conclusion, we confirmed that the two rare FANCM deleterious variants p.Arg658* and p.Arg1931* are risk factors for ER-negative and TNBC subtypes. Overall our data suggest that the effect of truncating variants on breast cancer risk may depend on their position in the gene. Cell sensitivity to olaparib exposure, identifies a possible therapeutic option to treat FANCM-associated tumors

    A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

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    Breast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial factors. About 50 common variants have been shown to modify BC risk for mutation carriers. All but three, were identified in general population studies. Other mutation carrier-specific susceptibility variants may exist but studies of mutation carriers have so far been underpowered. We conduct a novel case-only genome-wide association study comparing genotype frequencies between 60,212 general population BC cases and 13,007 cases with BRCA1 or BRCA2 mutations. We identify robust novel associations for 2 variants with BC for BRCA1 and 3 for BRCA2 mutation carriers, P &lt; 10−8, at 5 loci, which are not associated with risk in the general population. They include rs60882887 at 11p11.2 where MADD, SP11 and EIF1, genes previously implicated in BC biology, are predicted as potential targets. These findings will contribute towards customising BC polygenic risk scores for BRCA1 and BRCA2 mutation carriers
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