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Rapid interphase analysis for prenatal diagnosis of translocation carriers using subtelomeric probes
Mark J. Pettenati Chris Von Kap-Herr Bethy Jackle Peggy Bobby Philip Mowrey Stuart Schwartz P. Nagesh Rao Jon Rosnes 《黑龙江环境通报》2002,22(3):193-197
Interphase fluorescence in situ hybridization (FISH) has become an accepted laboratory technique for the rapid and preliminary prenatal assessment of chromosome aneuploidy. The introduction of subtelomeric FISH probes now allows for the molecular–cytogenetic analysis of terminal chromosome rearrangements. In a prospective study, we examined the prenatal use of subtelomeric probes on interphase cells to rapidly detect the carrier status of a fetus when a parent carried a known reciprocal or Robertsonian chromosome translocation. Three of the cases were identified as being abnormal. All cases were confirmed by routine cytogenetic analysis. These findings clearly demonstrated the utility of this technique and these probes to rapidly and correctly identify balanced and unbalanced chromosome anomalies of a fetus that could result from parental translocations. Copyright © 2002 John Wiley & Sons, Ltd. 相似文献
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The effectiveness of bicycle helmets in preventing head injuries is well documented. There are different opinions about the effectiveness of helmets in preventing face injuries, and few studies have analyzed the effect of different types of helmets. This study was performed to examine the effect of different helmet types to head and face injuries. The use of helmets was analyzed in cyclists with head or face injuries and compared with two control groups. The main control group was cyclists that had injuries not including the head or neck, and another control group was cyclists that had been involved in an accident, regardless of whether they had sustained any injury. Cross-table and logistic regression analyses were applied to analyze the protective effect of helmets. A total of 991 injured patients served as a basis for this study. Most of the accidents, (82%) were single accidents with no other persons involved. Of patients with injuries to the head, excluding face, 11.4% had been using hard shell helmets, and 9.6% had been using foam helmets at the time of the accident. Among the emergency room controls, the proportion of hard shell helmet users and foam helmet users was 26.4% and 11.4%, respectively. Compared to non-helmet users, this gave an odds ratio of 0.36 (CI = 0.21-0.60) for getting head injuries if the cyclists had been using hard shell helmets at the time of the injury, and 0.83 (CI = 0.41-1.67) for users of foam helmets. The odds ratio for getting face injuries was 0.90 (CI = 0.58-1.41) among users of hard shell helmets, and 1.87 (CI = 1.03-3.40) for users of foam helmets. The use of hard shell helmets reduced the risk of getting injuries to the head. Children less than nine years old that used foam helmets had an increased risk of getting face injuries. All bicyclists should be recommended to use hard shell bicycle helmets while cycling. 相似文献
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Surface contamination by bomb-derived and Chernobyl-derived 137Cs has been subject to changes due to physical decay and lateral transport of contaminated soil particles, which have resulted in an on-going transfer of radionuclides from terrestrial ecosystems to surface water, river bed sediments, and flood plains. Knowledge of the different sources of spatial variation of 137Cs is particularly essential for estimating 137Cs transfer to fluvial systems and for successfully applying 137Cs as an environmental tracer in soil erosion studies. This study combined a straightforward sediment redistribution model and geostatistical interpolation of point samples of 137Cs activities in soil to distinguish the effects of sediment erosion and deposition from other sources of variation in 137Cs in the small Mochovce catchment in Slovakia. These other sources of variation could then be interpreted. Besides erosion and deposition processes, the initial pattern of 137Cs deposition, floodplain sedimentation, and short-range spatial variation were identified as the major sources of spatial variation of the 137Cs inventory. 相似文献
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Holt MS Fox K Griessbach E Johnsen S Kinnunen J Lecloux A Murray-Smith R Peterson DR Schröder R Silvani M ten Berge WF Toy RJ Feijtel TC 《Chemosphere》2000,41(11):1799-1808
Monitoring and laboratory data play integral roles alongside fate and exposure models in comprehensive risk assessments. The principle in the European Union Technical Guidance Documents for risk assessment is that measured data may take precedence over model results but only after they are judged to be of adequate reliability and to be representative of the particular environmental compartments to which they are applied. In practice, laboratory and field data are used to provide parameters for the models, while monitoring data are used to validate the models' predictions. Thus, comprehensive risk assessments require the integration of laboratory and monitoring data with the model predictions. However, this interplay is often overlooked. Discrepancies between the results of models and monitoring should be investigated in terms of the representativeness of both. Certainly, in the context of the EU risk assessment of existing chemicals, the specific requirements for monitoring data have not been adequately addressed. The resources required for environmental monitoring, both in terms of manpower and equipment, can be very significant. The design of monitoring programmes to optimise the use of resources and the use of models as a cost-effective alternative are increasing in importance. Generic considerations and criteria for the design of new monitoring programmes to generate representative quality data for the aquatic compartment are outlined and the criteria for the use of existing data are discussed. In particular, there is a need to improve the accessibility to data sets, to standardise the data sets, to promote communication and harmonisation of programmes and to incorporate the flexibility to change monitoring protocols to amend the chemicals under investigation in line with changing needs and priorities. 相似文献