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A dicentric X chromosome was found in a female fetus during cytogenetic studies performed on amniotic cells. Blood samples from the parents showed normal karyotypes and the pregnancy was terminated. The mechanism for the formation of this ‘de novo’ rearrangement is discussed.  相似文献   
24.
Prenatal diagnosis of chronic granulomatous disease (CGD) was performed in four male high risk fetuses. The male sex was previously determined by an amniotic cell karyotype. Three kinds of test were performed on fetal blood obtained by umbilical venous puncture under fetoscopy at the 20th gestational week: nitroblue tetrazolium reduction (NBT) cytochemical test with phorbol myristate acetate (PMA) as activator; luminol enhanced chemiluminescence with activation by serum opsonized zymosan (STZ) or PMA; superoxide anion (0) production by measurement of the superoxide dismutase inhibitable reduction of cytochrome c with PMA as activator. Results were compared to those obtained in six fetuses investigated for other inherited diseases. In one case, absence of granulocyte defects was confirmed at birth. In three other cases, the tests showed deficient metabolic oxidative granulocytes. The pregnancy was terminated and the CGD diagnosis was confirmed on the products of abortion. The use of three different techniques performed on whole blood for CGD prenatal diagnosis is recommended instead of a single isolated test to ensure a higher confidence in the diagnosis.  相似文献   
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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   
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An amniocentesis was performed at 13.3 weeks' gestation for advanced maternal age. A mosaic sex chromosome pattern was found: of 50 cells examined, 34 had a 45,X karyotype. In 14 cells with a modal number of 46, a recognizable Y was substituted by a small non-fluorescent marker. C-banding identified the marker as an isodicentric in 12 cells. In two cells, the non-fluorescent marker appeared to be monocentric and looked like a non-fluorescent del (Yq), but could have been an isodicentric Y with inactivation of one of the centromeres. Two cells with a modal number of 47 showed two copies of the monocentric marker. Fluorescent in situ hybridization with an alpha satellite Y-specific centromeric probe confirmed the Y-chromosome origin of the markers and allowed for more accurate prenatal diagnostic information.  相似文献   
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As part of the Environmental Monitoring and Assessment Programin 1991, the field efficacy of six research indicators wasexamined in the estuarine systems of the Gulf of Mexico. Theutility of these indicators was tested by examining thoseresponses at both ends of multiple environmental gradients;namely, under minimally impacted conditions (reference) andheavily impacted conditions (by hypoxia, industrialdischarges, agricultural runoff). In addition, the geographiceffects of location (east and west of the Mississippi River)were examined. Numbers and frequencies of pathologies,abundance of splenic macrophage aggregates, and vertebralabnormalities showed response patterns that suggest widerfield testing along full gradients rather than simply theextremes of the gradient are warranted. Selected bloodproteins showed some promise but logistical constraints inestuarine environments may limit its utility. Concentrationsof selected organic compounds in bile showed no differences inthis study between references and contaminated sites.Molecular bioindicators are discussed with regard to theirpotential utility as indicators of ecosystem conditions. Ofthese potential indicators, the use of vitellogenin assays asa measure of reproductive impairment and frequency of shelldisease in selected crustaceans as an indicator ofimmunological aberrations deserve further examination.  相似文献   
28.
Seasonal changes in structure of a rocky intertidal community affected by sewage pollution at Quequén (Argentina) were studied over a period of 2 years. Most species showed a decrease in cover values in the polluted area. On the other hand, a small proportion of organisms favoured by organic enrichment predominated around the outfall during the period of study. Community structure was not significantly altered by frosts or windstorms. Desiccation is identified as the main physical stress. A combination of late spring high temperatures with extreme midday low-tides caused by northerly winds was responsible for heavy losses in dominant algae. Major seasonal changes in community structure were primarily due to variations in area covered by the chlorophyte Ulva lactuca, and crusts of blue-green algae and diatoms in the vicinity of the outfall. Highest diversity values were attained during either late winter or spring, due to increased abundances of several seasonal algae. Abundance of the dominant organism, the bivalve Brachidontes rodriguezi, remained stable, showing only slight, non-seasonal, changes. Since the absence of B. rodriguezi is an indication of heavy pollution, temporal stability of this species suggests that the intensity of sewage discharges did not vary over the period of study.  相似文献   
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The Western Governors' Association (WGA) includes both the public lands states with their issues and the plains states, which are 98% privately owned. WGA deals with most legislation affecting biodiversity, whether the effect is direct or tangential. It will probably not be possible, or desirable, for one entity to be in charge of biodiversity conservation. The Endangered Species Act, public lands laws, agricultural laws, water law, environmental laws, and funding legislation all affect biodiversity conservation and the responsibility for it. None of them on their own are enough, and most can cause harmful unintended consequences for biodiversity. The experience of western states in developing consensus principles for reauthorization of the Endangered Species Act provides an example of common-sense ways to improve management of biodiversity, notwithstanding the complexity and large stakes involved. The WGA's proposed changes call for increasing the role of states, streamlining the act, and increasing certainty for landowners and water users. To achieve sustainable conservation for biodiversity, the better question is not “Who is/should be in charge?”, it is “How do we get this done?” To answer this, we need goals, guidance, and bottom lines from federal laws, and management and oversight at the state level, but they all need to support local on-the-ground partnerships. Sustainable conservation requires the active participation of those who live there. WGA's experience in coordinating the Great Plains Partnership as well as its work with watershed efforts shed light on what to expect. Multilevel partnerships are not easy and require a different way of doing business. The ad hoc, sitespecific processes that result do not lend themselves to being legislated, fit into organizational boxes, or scored on a budget sheet. They do require common sense and a longterm perspective.  相似文献   
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In multiphase systems capillary pressures play a significant role on fluid movement and retention. The facility to predict the effect of different thermal remediation strategies requires the knowledge of the effect of temperature on capillary pressure-saturation relationships in the soils. The objective of recent study was (a) to develop a technique for routinely measuring the pressure-saturation curves of soil samples saturated with a nonpolar liquid at different regulated temperatures (b) to build a database using the measured pressure-saturation curves and the physical, chemical properties of the model soils (c) to establish the dependence of nonaqueous phase liquid retention on the soil properties and the temperature. The retention curves (extraction isotherms) with nonaqueous phase liquid were determined using a modified pressure plate extractor. The wetting phase was a non-aromatic hydrocarbon distillation product. Pressure plates were designed and constructed in the laboratory of our department. The temperature was held constant at 20, 40 and 60 C. Statistical analysis was performed involving selected soil parameters and the measured nonaqueous phase liquid retention data. The results show that knowing some easily measurable soil parameters (bulk density, particle size distribution, humus and lime content) we can estimate the nonaqueous phase liquid retention of the soils. The measured “extraction isotherms” provide essential information about the temperature-dependency of pressure-saturation curves.  相似文献   
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