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While true mosaicism occurs in only 0–25 per cent of genetic amniocenteses, nearly 2–5 per cent of amniotic fluid cell cultures contain a second cell line. In the common practice of prenatal diagnosis, an aberrant cell line confined to a single colony is usually disregarded. We present a case of mosaic trisomy 14 which was not detected on initial chromosome analysis. At birth, multiple malformations were apparent. Newborn cytogenetic studies revealed mosaicism [46,XX/46,XX,-14,+i(14q)] with an isochromosome 14 in 37 per cent of lymphocytes. Additional cells from the initial amniotic fluid culture were analysed post-delivery and the isochromosome 14 identified in only one of 12 total colonies. This case illustrates two important lessons in prenatal diagnosis. First, amniotic fluid cell cultures may not accurately reflect the relative distribution of the normal and abnormal cell lines within a mosaic fetus. Second, while it is generally reasonable to disregard mosaicism confined to a single colony, this policy will, on rare occasion, result in diagnostic error. This should be taken into consideration, particularly when dealing with autosomal trisomies potentially compatible with livebirth. 相似文献
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Accurate diagnosis of mosaicism in amniotic fluid cell cultures represents a major problem. If insufficient cells are analysed, true fetal mosaicism may go undetected. False-positive diagnosis is also possible since a second cell line may arise in vitro and not reflect the true fetal genetic constitution. These difficulties apply to both flask and in situ culture techniques, to varying degrees. The relative accuracy of flask versus in situ culture techniques in excluding mosaicism was determined by statistical analysis of experimental data from ten pairs of mixed male-female amniotic fluid specimens. The data support the idea that the majority of in situ colonies are independent of one another. The following conclusions are drawn: (1) analysis of a single metaphase from a number of different colonies enhances the confidence for excluding mosaicism; (2) analysis of more than one cell per colony offers little advantage; (3) exclusion of a given level of mosaicism requires analysis of fewer metaphases using the in situ method; (4) the confidence for excluding mosaicism is high with both in situ and flask techniques, using the provided guidelines; and (5) it is shown that the two-stage approach used by many laboratories is currently the most efficient way to exclude mosaicism. 相似文献
4.
Wing-tat Hung Ka-man Tam Chi-pang Lee Chi-pang Lee Lo-yin Chan Chun-shun Cheung 《Journal of the Air & Waste Management Association (1995)》2013,63(10):1420-1430
Abstract Zhuhai, a relatively less developed city on the western coast of the Pearl River Delta (PRD) of China, is planning to undergo major development in coming years. A Hong Kong-Zhuhai-Macao Bridge project has been approved by the Central Government of China. The project will have great impact on the driving pattern and vehicular emissions to the city. This baseline study collected speed-time data of two instrumented private cars in morning and evening periods, as well as a daytime nonpeak period of >10 consecutive days in the spring and winter of 2003. The authors used the microwave speed sensor and global positioning system installed in the instrumented cars and used car-chasing technique to perform the data collection. They used the statistical package SPSS to assess the consistency, as well as to evaluate the variability of the data. Nine parameters, namely, average speed, average running speed, average acceleration rate, average deceleration rate, mean length of a driving period, time proportions of driving modes, average number of acceleration-deceleration changes, root mean square acceleration, and positive acceleration kinetic energy are calculated to represent the driving characteristics. A driving cycle for private cars was developed. If emission tests were conducted using the Zhuhai driving cycle, the level of vehicle emissions measured is likely to be in between that of the Federal Test Procedure (FTP) cycle and the Melbourne Peak cycle. 相似文献
5.
D.Y.C. Leung P. Wong B.K.H. Cheung A. Guenther 《Atmospheric environment (Oxford, England : 1994)》2010,44(11):1456-1468
This paper describes a study of local biogenic volatile organic compounds (BVOC) emissions from the Hong Kong Special Administrative Region (HKSAR). An improved land cover and emission factor database was developed to estimate Hong Kong emissions using MEGAN, a BVOC emission model developed by Guenther et al. (2006). Field surveys of plant species composition and laboratory measurements of emission factors were combined with other data to improve existing land cover and emission factor data. The BVOC emissions from Hong Kong were calculated for 12 consecutive years from 1995 to 2006. For the year 2006, the total annual BVOC emissions were determined to be 12,400 metric tons or 9.82 × 109 g C (BVOC carbon). Isoprene emission accounts for 72%, monoterpene emissions account for 8%, and other VOCs emissions account for the remaining 20%. As expected, seasonal variation results in a higher emission in the summer and a lower emission in the winter, with emission predominantly in day time. A high emission of isoprene occurs for regions, such as Lowest Forest-NT North, dominated by broadleaf trees. The spatial variation of total BVOC is similar to the isoprene spatial variation due to its high contribution. The year to year variability in emissions due to weather was small over the twelve-year period (?1.4%, 2006 to 1995 trendline), but an increasing trend in the annual variation due to an increase in forest land cover can be observed (+7%, 2006 to 1995 trendline). The results of this study demonstrate the importance of accurate land cover inputs for biogenic emission models and indicate that land cover change should be considered for these models. 相似文献
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INTRODUCTION: This paper describes a web-based system for monitoring and assessing construction safety and health performance, entitled the Construction Safety and Health Monitoring (CSHM) system. METHOD: The design and development of CSHM is an integration of internet and database systems, with the intent to create a total automated safety and health management tool. A list of safety and health performance parameters was devised for the management of safety and health in construction. A conceptual framework of the four key components of CSHM is presented: (a) Web-based Interface (templates); (b) Knowledge Base; (c) Output Data; and (d) Benchmark Group. RESULTS: The combined effect of these components results in a system that enables speedy performance assessment of safety and health activities on construction sites. With the CSHM's built-in functions, important management decisions can theoretically be made and corrective actions can be taken before potential hazards turn into fatal or injurious occupational accidents. IMPACT ON INDUSTRY: As such, the CSHM system will accelerate the monitoring and assessing of performance safety and health management tasks. 相似文献
7.
A laboratory experiment was conducted to test whether anti-predator responses could be induced in the green mussel, Perna viridis, on exposure to waterborne cues from two predators, the muricid gastropod, Thais clavigera, and the portunid crab, Thalamita danae, and from damaged conspecifics. There were five treatments in this study. Aquaria of two treatments housed either Thalamita danae or Thais clavigera. Another three treatments housed only intact mussels, broken and intact mussels, or no mussels. No significant differences were found among these five treatments in final shell weight and tissue dry weight. Induced defensive responses were predator-specific. Experimental mussels exposed to waterborne cues of T. clavigera had a higher percentage increase in shell length, height and width, whereas those exposed to waterborne cues of T. danae had a higher percentage increase in shell width and height. Mussels raised in the presence of crabs developed thicker shell at the umbo and lip margin, whereas mussels raised in the presence of gastropods had thicker shell lip. Predator preference for mussels from the control group and for those pre-exposed to waterborne cues of either of the predators was studied. T. clavigera preferentially selected mussels from the control group, whereas no prey preference was found for T. danae, although shell breaking time for mussels exposed to a crab was longer than that for the control. While the present results should be viewed with caution in the absence of a dietary control, this was the first time that prey handling was shown to be affected by defensive changes in the morphology of mussels.Communicated by T. Ikeda, Hakodate 相似文献
8.
Bronchial dosimeters have been designed for adult Chinese males and females for home and mine exposures, which can give the bronchial doses from radon progeny by direct measurements. The bronchial dosimeter for home exposures consists of five 400-mesh wire screens. With a sampling face velocity of 3.3 cm s(-1) for Chinese males and 2.7 cm s(-1) for Chinese females, the deposition pattern on the wire screens were found to satisfactorily match the variation of the dose conversion coefficients (in units of mSv WLM(-1)) with the size of radon progeny from 1 to 1000 nm. The bronchial dosimeter for mine exposures consists of four 250-mesh wire screens. With a sampling face velocity of 3.3 cm s(-1), the deposition pattern on the wire screens were found to satisfactorily match the variation of the dose conversion coefficients for both Chinese males and females. In this way, the bronchial dosimeters directly give the bronchial doses from the alpha counts recorded on the wire-screens. 相似文献
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