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191.
192.
Marcy C. Speer Margaret A. Pericak-Vance Larry H. Yamaoka James Koh Wu-Yen Hung Peter C. Gaskell Jr. Jeffery M. Vance Richard J. Bartlett Allen D. Roses 《黑龙江环境通报》1988,8(6):427-437
Accurate carrier testing and prenatal diagnosis in Duchenne muscular dystrophy (DMD) families is facilitated when an Xp21 deletion is found to be segregating within a family. We discuss the results of the DNA testing in two families, one in which DNA from affected males was available for study and the other in which no DNA from an affected male was available. Factors complicating the counselling of DMD deletion families are outlined. 相似文献
193.
J. G. Hooker M. Lucas B. A. Richards I. M. Shirley B. D. Thompson R. H. T. Ward 《黑龙江环境通报》1984,4(1):29-33
Estimation of maternal serum alpha-fetoprotein (AFP) was used as a screening method for the detection of neural tube defects (NTDs) in 6344 women over three years. Of 88 (1.4 per cent) who had one or more serum AFP levels equal to, or greater than, 2.5 multiples of the median (MoM) for the relevant gestational age, 43 (0.68 per cent) underwent amniocentesis. There were eight NTDs. Four of these were screened by serum AFP, and all cases of spina bifida had serum AFP levels greater than 3.0 MoM, including one small open defect which was not seen on ultrasound. The other four cases of NTD, which were not screened, were identified by ultrasound. Of 64 singleton pregnancies 32 (50 per cent) had serum AFP levels between 2.5 and 3.0 MoM, and low birthweight (⪕2500 g) occurred in 29 per cent. Because of improvements in ultrasound techniques and the apparent falling incidence of NTD, the role of serum AFP as the primary screening procedure should be regularly reviewed. Effective screening is dependent on mothers booking early. 相似文献
194.
Effect of leachate recycling and inoculation on the biochemical characteristics of municipal refuse in landfill bioreactors 总被引:2,自引:0,他引:2
Activity development of key groups of enzymes involved in municipal refuse decomposition was measured in laboratory landfill bioreactors with and without leachate recycling and inoculation for about 210 days.The results showed that the enzymes(amylase,protease,cellulase,lipase and pectinase)were present in fresh refuse but at low values and positively affected by leachate recycling and refuse inoculation.The total average of cellulase activity in digesters D3 operated with leachate recycling but no inoculation,D4 and D5 operated with leachate recyling and inoculation was much higher than that in digesters D1 and D2 without leachate recycling and inoculation by 88%-127%,117%-162%and 64%-98%.The total average of protease activity was higher in digester D4 than that in digesters D1,D2,D3and D5 by 63%,39%,24%and 24%,respectively,and the positive effect of leachate recycling and inoculation on protease activity of landfilled refuse mainly was at the first two months.The total average of amylase activity was higher in digesters D3,D4 and D5 than that in digesters D1 and D2 by 83%-132%,96%-148%and 81%-129%.During the early phase of incubation,the stimulatory effect of inoculation on lipase activity was measured,but refuse moisture was the main factor affecting lipase activity of landfilled refuse.The inoculation,initial and continuous inoculation of microorganisms existing in leachate,was the mainly stimulatory factor affecting pectinase activity of landfilled refuse. 相似文献
195.
D. Costa A. Borrell E. Margarit A. Carrió A. Soler I. Balmes X. Estivill A. Fortuny 《黑龙江环境通报》1995,15(2):141-148
Fluid from pleural effusion (n=2) and cystic hygroma (n=7) was obtained from eight fetuses, between 13 and 32 weeks of pregnancy at the time when a conventional prenatal diagnosis procedure was carried out. As these fluids contain lymphocytes, they were processed like peripheral blood. A karyotype was obtained in 4 days in both cases of pleural effusion and in four out of seven samples of cystic hygroma. An abnormal karyotype was detected in three of the four samples of cystic hygroma: two trisomies 21 and a monosomy X. Different parameters were evaluated in order to predict the feasibility of obtaining a cytogenetic diagnosis. Our data showed that if the amount of fluid obtained was ⩾4 ml and the initial lymphocyte count (ILC) was >0.2 × 106 cells/ml, a cytogenetic diagnosis was possible from an initial concentration of cultured lymphocytes )ICCL) of >0.06 × 106 cells/ml. 相似文献
196.
Tzipora C. Falik-Borenstein MD Stuart A. Holmes Zvi Borochowitz Abi Levin A. Rosenmann Richard A. Spritz 《黑龙江环境通报》1995,15(4):345-349
We describe molecular prenatal diagnosis and carrier detection of tyrosinase-negative oculocutaneous albinism (OCA1A) in two families. In one family, we carried out DNA-based prenatal diagnosis of OCA1A. In the other family, mutation analysis and carrier detection obviated the need for prenatal diagnosis. Molecular analysis is safer and probably more accurate than fetoscopy and fetal scalp biopsy, and should become the method of first choice for prenatal diagnosis of OCA1. 相似文献
197.
Arie Drugan Anne Greb Mark Paul Johnson Eric L. Krivchenia Wendy R. Uhlmann Kamran S. Moghissi Mark I. Evans MD 《黑龙江环境通报》1990,10(8):483-490
Parental decisions concerning the continuation of pregnancy following prenatal detection of abnormal chromosomes were evaluated for 80 patients whose diagnosis and prenatal counselling were performed in our centre. Twenty-two anomalies were diagnosed by chorionic villus sampling (CVS) and 58 by amniocentesis. The severity of the chromosome anomaly and associated ultrasound findings in the first vs. second trimester were correlated with patients' decisions. No difference was found in the likelihood of parental decisions to interrupt or continue a pregnancy between CVS and amniocentesis for either the‘severe’ or the‘questionable’ group of chromosome anomalies. Ninety-three per cent of patients with severe prognosis and 27 per cent with questionable prognosis opted for pregnancy termination (p <0·0001). The association of ultrasound anomalies and termination was highly significant (p< 0·001). The severity of the chromosome anomaly, and, to a lesser extent, the visualization of anomalies on ultrasound were the major determinants of parental decisions to terminate the pregnancy. The diagnosis of an anomaly in the first trimester was no more likely ito lead to a termination of pregnancy than in the second trimester. 相似文献
198.
Andreas Züttel 《Mitigation and Adaptation Strategies for Global Change》2007,12(3):343-365
Hydrogen storage and transportation or distribution is closely linked together. Hydrogen can be distributed continuously in
pipelines or batch wise by ships, trucks, railway or airplanes. All batch transportation requires a storage system but also
pipelines can be used as pressure storage system. Hydrogen exhibits the highest heating value per weight of all chemical fuels.
Furthermore, hydrogen is regenerative and environment friendly. There are two reasons why hydrogen is not the major fuel of
toady’s energy consumption: First of all, hydrogen is just an energy carrier. And, although it is the most abundant element
in the universe, it has to be produced, since on earth it only occurs in the form of water. This implies that we have to pay
for this energy, which results in a difficult economic task, because since the industrialization we are used to consuming
energy for free. The second difficulty with hydrogen as an energy carrier is the low critical temperature of 33 K, i.e. hydrogen
is a gas at room temperature. For mobile and in many cases also for stationary applications the volumetric and gravimetric
density of hydrogen in a storage system is crucial. Hydrogen can be stored by six different methods and phenomena: high pressure
gas cylinders (up to 800 bar), liquid hydrogen in cryogenic tanks (at 21 K), adsorbed hydrogen on materials with a large specific
surface area (at T < 100 K), absorbed on interstitial sites in a host metal (at ambient pressure and temperature), chemically bond in covalent
and ionic compounds (at ambient pressure), oxidation of reactive metals e.g. Li, Na, Mg, Al, Zn with water. These metals easily
react with water to the corresponding hydroxide and liberate the hydrogen from the water. Finally, the metal hydroxides can
be thermally reduced to the metals in a solar furnace. 相似文献
199.
Amniocentesis at 17 weeks' gestation revealed a mosaic karyotype—46,XX/46,XX, — 14,+dic(14)(p11). No abnormalities were detected on ultrasound. Growth and placentation were normal. The fetus was examined after termination of pregnancy and micrognathia and pulmonary hyperlobation were the only abnormalities detected. Several tissues were set up for cytogenetics, including fetal skin, kidney, ovary, and placenta. The diagnosis was confirmed by these studies. The level of mosaicism varied between tissues, with the trisomy 14 cell line highest in amniotic fluid. 相似文献
200.