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Identification of a gene that causes primary open angle glaucoma 总被引:3,自引:0,他引:3
EM Stone JH Fingert WL Alward TD Nguyen JR Polansky SL Sunden D Nishimura AF Clark A Nystuen BE Nichols DA Mackey R Ritch JW Kalenak ER Craven VC Sheffield 《Canadian Metallurgical Quarterly》1997,275(5300):668-670
Glaucoma is a major cause of blindness and is characterized by progressive degeneration of the optic nerve and is usually associated with elevated intraocular pressure. Analyses of sequence tagged site (STS) content and haplotype sharing between families affected with chromosome 1q-linked open angle glaucoma (GLC1A) were used to prioritize candidate genes for mutation screening. A gene encoding a trabecular meshwork protein (TIGR) mapped to the narrowest disease interval by STS content and radiation hybrid mapping. Thirteen glaucoma patients were found to have one of three mutations in this gene (3.9 percent of the population studied). One of these mutations was also found in a control individual (0.2 percent). Identification of these mutations will aid in early diagnosis, which is essential for optimal application of existing therapies. 相似文献
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Customers are sensitive to the flavour of water. Customers evaluate drinking water based on their expectations, on experiences with their usual drinking water and on experiences with alternative waters. The Philadelphia Water Department provides one example of success in developing a better understanding of customer perceptions and attitudes about tap water taste and odour. Philadelphia found that customers do communicate in ways that water utilities can understand. Water utilities can enhance that communication and collect useful data. In addition, water utilities can characterise their tap water flavour, track it for changes and correlate changes to customer complaints. 相似文献
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The results of detailed measurements and calculations of the properties of Sydney University/Nitto Kohki evacuated collector tubes have been used to develop a formula for the instantaneous heat extraction efficiency η of a collector panel incorporating the evacuated tubes. The instantaneous efficiency depends on ambient temperature, mean fluid temperature in the collector, solar flux and the design of the manifold used to extract heat from the glass absorber tubes. Manifold design determines the mean temperature difference between absorber tube surface and mean fluid temperature for given operating conditions, and strongly affects the efficiency η of a collector panel. Neither changes in the number of evacuated tubes per unit area of collector, nor variations in solar flux, significantly alter the efficiency decrement Δ η0 associated with a particular manifold design. Calculated efficiencies agree well with experimental results for collector panels incorporating manifolds of various designs. The formula for efficiency η allows detailed analysis of the relative importance of various energy loss mechanisms in a collector. 相似文献
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The chemically enhanced primary treatment works in Hong Kong will be upgraded for biological nitrogen removal. This study proposed a novel approach to waive the upgrading by urine source-separation, onsite nitrification and discharge of nitrified urine into sewers to achieve in-sewer denitrification. Human urine was collected and a lab-scale experiment for full urine nitrification was conducted. The results showed that full nitrification was achieved with alkaline addition. Simulation of nitrified urine discharge into an 8-km pressure main in Hong Kong was conducted with a quasi-2D dynamic sewer model developed from a previously calibrated sewer biofilm model. It was assumed that 70% of the residents' urine was collected and fully nitrified on-site. The simulation results revealed that the proposed approach is effective in removal of nitrogen within the sewer, which decreases ammonia-N at the sewer outlet to a level required for secondary effluent discharge in Hong Kong. 相似文献
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The solubility of copper in silica-unsaturated fayalite slags containing an average of about 8 pct Al2O3 was measured by equilibrating the slag with metallic copper at 1200 and 1300°C under CO?CO2 atmospheres with oxygen potentials in the rangep O 2=10?6 to 10?11 at. The copper solubility, which was found to be dependent upon the oxygen potential, was expressed in terms of the Fe/SiO2 ratio, temperature and activity of CuO0.5. The distribution of Pb, Bi, Sb and As between copper and slag was measured concurrently by doping the metallic copper. The distribution coefficient was defined by (mole fractionX in metal)/(mole fractionX in slag) assuming the FeO?FeO1.5?SiO2?AlO1.5?CuO0.5 system slag. The distribution coefficient for lead was found to be a function of the oxygen potential, and a PbO activity in the slag of 0.07±0.01 was measured over the range of 1200 to 1300°C. Dissolution of Bi, Sb and As in the slag was found to be independent of the oxygen potential suggesting atomic rather than oxidic dissolution. The observed distribution coefficient for Bi and Sb was 30. The observed distribution coefficient for As was 300, but this is subject to error up to one order of magnitude due to analytical uncertainty of slag. The data are useful in analyzing minor element behavior in copper smelting processes. 相似文献
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