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51.
Bernadette Chadefaux Vekemans Jean-Paul Bonnefont Joëlle Aupetit Ghislaine Royer Véronique Droin Tania Attié-Bitach Jean-Marie Saudubray Laure Thuillier 《黑龙江环境通报》2003,23(11):884-887
Carnitine palmitoyltransferase 2 (CPT2) deficiency, the most common autosomal recessive inherited disease of the mitochondrial long-chain fatty acid (LCFA) β-oxidation, may result in three distinct clinical phenotypes, namely, a mild adult muscular form, a severe infantile hepatocardiomuscular disease, and a neonatal form, which includes dysmorphic features in addition to hepatocardiomuscular symptoms. Both the latter forms are life-threatening diseases, and prenatal diagnosis (PND) can be offered to couples at a one-fourth risk of having an affected child. PND of CPT2 deficiency hitherto relied mostly on mutation detection from fresh chorionic villi (10 weeks' gestation), since CPT2 activity could be assayed on cultured amniocytes only (16–17 weeks' gestation). We devised a CPT2 activity assay from 10 mg of chorionic villi sampling (CVS). Combining this enzymatic assay to haplotype study using polymorphic markers linked to the CPT2 gene, we were able to carry out within 2 days, CPT2 deficiency PND, in two unrelated families, using a CVS performed at the 11th week of gestation. Copyright © 2003 John Wiley & Sons, Ltd. 相似文献
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54.
Fu Zhao William Z. Bernstein Gautam Naik Gary J. Cheng 《Journal of Cleaner Production》2010,18(13):1311-1319
Laser assisted manufacturing processes, when compared with traditional manufacturing processes, have the potential to reduce cost, increase surface resistance to wear and fatigue, extend part/tool life, and expand the range of manufacturable materials. These processes have found niche applications in automotive, aerospace, and defense industries. However, very limited research has been conducted to evaluate and compare the environmental performance of laser assisted processes with traditional methods. This paper conducts case studies on two representative laser based processes, i.e. laser shock peening of 7075-T7351 Aluminum and laser assisted turning of compacted graphite iron. Life cycle assessment is used to benchmark the environmental performance of these two processes to conventional processes, i.e. shot peening and turning, respectively. The life cycle inventory of both the laser based processes and conventional processes are developed using SimaPro 7.1 and the Ecoinvent 2.0 database and life cycle impact assessment is performed using US EPA TRACI. The results of this study show that the environmental performance of the two laser based processes is significantly better than conventional processes. For laser shock peening of aluminum, contribution analysis indicates that this is mainly due to the significant extension of fatigue life of the workpiece being treated. For laser assisted turning of compacted graphite iron, the improved performance is mainly due to the extended tool life since cutting tool manufacturing is an energy intensive process. Development of high-power laser with a lower wavelength (e.g. direct diode system) could eliminate the use of paint in laser assisted turning. This, along with improved wall plug efficiency, makes laser assisted turning even more environmentally benign compared to conventional process. A brief cost analysis suggests that both laser shock peening and laser assisted turning can be economically viable with payback period less than three years for niche applications. 相似文献
55.
Journal of Material Cycles and Waste Management - The tar formed within the producer gas is a major problem in the biomass gasification process. The catalytic cracking of tar is the best method to... 相似文献
56.
Singh Ashok Kumar Gautam Samsher 《Environmental science and pollution research international》2022,29(23):34379-34405
Environmental Science and Pollution Research - This work presents a novel approach for a double-slope solar desaltification system having parallel array of evacuated annular tube collectors with... 相似文献
57.
Hospital effluents are loaded with pathogenic microorganisms, partially metabolized pharmaceutical substances, radioactive elements, and other toxic substances. Such effluents if not treated properly can damage the natural environment and create a biological imbalance. This paper points out the areas of concern for hospital wastewater disposal and reports the findings of a limited physico-chemical study of treatment options for hospital effluents conducted at Christian Medical College and Hospital, Vellore, Tamil Nadu. The effluent collected was checked for conventional parameters and subjected to coagulation experiments. The raw and settled effluents were coagulated with FeCl(3), filtered and disinfected. Physico-chemical treatment seems to be an attractive option for the cost-effective disposal of hospital effluents. The results of this study call for further detailed study in this area. 相似文献
58.
Molecular characterisation of a prenatally diagnosed 5q15q21.3 deletion and review of the literature
59.
Gautam R Bhardwaj N Saini Y 《Journal of environmental biology / Academy of Environmental Biology, India》2011,32(1):85-89
There is a severe fluoride problem in Nawa tehsil of Nagaur district. Villagers are suffering from dental fluorosis and skeletal fluorosis. So an extensive geochemical study of 27 villages of eastern, south-eastern and southern zone of Nawa tehsil was done. Total 46 ground water samples were collected and analyzed for various physicochemical parameters as well as fluoride content. The ground water samples collected in clean polyethylene plastic containers were analyzed for pH, electrical conductivity, total dissolved salts, calcium, magnesium, total hardness, chloride and alkalinity. The fluoride concentration in the three different zones ranged from 0.64 to 14.62 mg l(-1) where 13.04% samples were found within permissible limit while 86.96% had fluoride beyond permissible limit (> 1.5 mg l(-1)). It was found that among the three different zones south-eastern zone was under serious fluoride contamination where fluoride concentration ranged between 1.10 to 14.62 mg l(-1). In the eastern zone fluoride concentration was recorded from 1.52 to 5.13 mg l(-1) whereas in the southern zone it was found between 0.64 to 3.63 mg l(-1). 相似文献
60.
Gautam Rohit Priyadarshini Eepsita Nirala Jay Prakash Meena Ramovatar Rajamani Paulraj 《Environmental science and pollution research international》2021,28(39):54756-54765
Environmental Science and Pollution Research - Advancements in telecommunication sector result in increasing exposure to electromagnetic (EM) radiation, which has been correlated with incidence of... 相似文献