We report herein a de novo unbalanced chromosome translocation in a fetus resulting from in vitro fertilization technology. Prenatal diagnostic analysis of an amniotic fluid revealed a 46,XX,4p+ karyotype. The origin of the extra material on the short arm of chromosome 4 could not be identified by a variety of banding techniques. However, examination of fetal parts did reveal some dysmorphic features. 相似文献
Amniocyte clones from a mid-trimester pregnancy disclosed 45,X/46,XY sex chromosome mosaicism. Because of the uncertainty concerning the phenotype of the fetus, the parents elected to terminate the pregnancy. Mixed (asymmetrical) gonadal dysgenesis was not found. The fetus appeared to have a normal male uro-genital system. No malformations of any type were detected, although as expected, the fetus did have 45,X/46,XY mosaicism. 相似文献
We describe the development and validation of a portable system comprising an air sampler coupled to an automated flow injection analysis device. The system is able to monitor airborne concentrations of subtilisin-type enzymes in the workplace atmosphere on a continuous basis. Sampling is in two stages: using a sampling head that is designed to mimic human respiration at approx. 1 m s(-1) at a sampling rate of 600 l min(-1). In the second stage, the captured particles are deposited by impaction from the air stream onto the inner surface of a cyclone that is continuously washed with a jet of buffer solution. Deposited particles are then washed into a reservoir from which samples are taken every 5-6 min and injected automatically into a continuous flow injection analysis system. Proteolytic enzyme in the sample passes through a bioreactor maintained at about 40 degrees C. This contains a cellulose solid phase matrix on which is covalently immobilised Texas Red-labelled gelatin as substrate. The passing enzyme partially digests the substrate releasing fluorophore that is detected down stream in a flow cell coupled to a fluorimeter. The system is calibrated using enzyme standards and the intensity of the resulting peaks from the ex-air samples is converted to airborne concentrations using a mathematical model programmed into a PC. The system has a limit of detection of 4.8 ng m(-3) and a dynamic range of 5-60 ng m(-3). The within assay precision (RSD) is 6.3-9.6% over this range. The within batch precision is 20.3% at 20 ng m(-3) and the corresponding between batch value is 19.5%. The system has been run for periods up to 8 h in the laboratory and for up to 4 h at a factory site and the values obtained compared with time-averaged values obtained from a conventional Galley sampler and in-house analysis when reasonable agreement of the results was observed. The stability of the system over 21 days of continuous use with standards injected periodically was studied. Linearity was observed for all the standard plots throughout. At the end of 21 days, after a total exposure equivalent to 2395 ng ml(-1) of Savinase, the signal due to the 5.0 ng ml(-1) standard was still easily detectable. 相似文献
Riparian buffer restorations are used as management tools to produce favorable water quality impacts, moreover among the many benefits riparian buffers may provide, their application as instruments for water quality restoration rests on a relatively firm foundation of research. However, the extent to which buffers can restore riparian ecosystems; their functionality and species composition, are essentially unknown. In light of the foregoing, two broad areas of research are indicated. First, data are needed to document the relative effectiveness of riparian buffers that differ according to width, length, and plant species composition. These questions, of managing buffer dimension and species composition for functionality, are of central importance even when attenuation of nutrient and sediment loads alone are considered. Second, where ecosystem restoration is the goal, effects to in-stream and terrestrial riparian biota need to be considered. Relatedly, the effects of the restoration on the landscape need to be considered. Particularly, at what rate do the effects of the riparian buffer on in-stream water quality, biota, and habitat diminish downstream from restored sites? Answers to these important questions are needed, for streams and watersheds of different size and for areas of differing soil type within watersheds. U.S. EPA-NRMRL has initiated as research project that will document the potential for buffers to restore riparian ecosystems; focusing on water quality effects, but also, importantly, documenting effects on biota. While substantial riparian buffer management initiatives are already underway, the extent of landscapes that influence riparian ecosystems in the eastern United States is large; leaving ample opportunity for this suggested research to provide improved buffer designs in the future. The ultimate goal of research projects developed under this paradigm of ecosystem restoration is to develop data that are needed to implement riparian buffer restorations in the mid-Atlantic and elsewhere, especially the eastern United States. 相似文献
I searched the National Institutes of Health MEDLINE database through January 2017 for long-term studies of morbidity and air pollution and cataloged them with respect to cardiovascular, respiratory, cancer, diabetes, hospitalization, neurological, and pregnancy-birth endpoints. The catalog is presented as an online appendix. Associations with PM2.5 (particulate matter with an aerodynamic diameter <2.5 μm), PM10 (PM with an aerodynamic diameter <10 μm), and nitrogen dioxide (NO2) were evaluated most frequently among the 417 ambient air quality studies identified. Associations with total suspended particles (TSP), carbon, ozone, sulfur, vehicular traffic, radon, and indoor air quality were also reported. I evaluated each study in terms of pollutant significance (yes, no), duration of exposure, and publication date. I found statistically significant pollutant relationships (P < 0.05) in 224 studies; 220 studies indicated adverse effects. Among 795 individual pollutant effect estimates, 396 are statistically significant. Pollutant associations with cardiovascular indicators, lung function, respiratory symptoms, and low birth weight are more likely to be significant than with disease incidence, heart attacks, diabetes, or neurological endpoints. Elemental carbon (EC), traffic, and PM2.5 are most likely to be significant for cardiovascular outcomes; TSP, EC, and ozone (O3) for respiratory outcomes; NO2 for neurological outcomes; and PM10 for birth/pregnancy outcomes. Durations of exposure range from 60 days to 35 yr, but I found no consistent relationships with the likelihood of statistical significance. Respiratory studies began ca. 1975; studies of diabetes, cardiovascular, and neurological effects increased after about 2005. I found 72 studies of occupational air pollution exposures; 40 reported statistically significant adverse health effects, especially for respiratory conditions. I conclude that the aggregate of these studies supports the existence of nonlethal physiological effects of various pollutants, more so for non–life-threatening endpoints and for noncriteria pollutants (TSP, EC, PM2.5 metals). However, most studies were cross-sectional analyses over limited time spans with no consideration of lag or disease latency. Further longitudinal studies are thus needed to investigate the progress of disease incidence in association with air pollution exposure.
Implications: Relationships of air pollution with excess mortality are better known than with long-term antecedent morbidity. I cataloged 489 studies of cardiovascular, respiratory, cancer, and neurological effects, diabetes, and birth outcomes with respect to 12 air pollutants. About half of the studies reported statistically significant relationships, more frequently with noncriteria than with criteria pollutants. Indoor and cumulative exposures, coarse or ultrafine particles, and organic carbon were seldom considered. Significant relationships were more likely with less-severe endpoints such as blood pressure, lung function, or respiratory symptoms than with incidence of cancer, chronic obstructive pulmonary disease (COPD), heart failure, or diabetes. Most long-term studies are based on spatial relationships; longitudinal studies are needed to link the progression of pollution-related morbidity to mortality, especially for the cardiovascular system. 相似文献
Data from the literature on dry deposition of SO2 to various common materials in outdoor atmospheres are reviewed and presented in the context of a theoretical model. The model postulates two resistances to deposition: the aerodynamic resistance, controlled by atmospheric properties; and the surface resistance, controlled by the chemistry of the surface and its moisture layer. Since the dissolution of SO2 is sensitive to pH, buffering of the moisture layer by corrosion products is essential for SO2 deposition to continue. Thus, it is hypothesized that SO2 deposits preferentially on those surfaces that are sensitive to SO2 attack. Based on extant data, estimates of aerodynamic and surface resistances are derived from the literature and maximum "dry" deposition rates for SO2 are estimated. Such information could be used to formulate SO2 dose-response or "damage" functions for certain materials, based on short-term laboratory tests. 相似文献
Abstract Results from 31 epidemiology studies linking air pollution with premature mortality are compared and synthesized. Consistent positive associations between mortality and various measures of air pollution have been shown within each of two fundamentally different types of regression studies and in many variations within these basic types; this is extremely unlikely to have occurred by chance. In this paper, the measure of risk used is the elasticity, which is a dimensionless regression coefficient defined as the percentage change in the dependent variable associated with a 1% change in an independent variable, evaluated at the means. This metric has the advantage of independence from measurement units and averaging times, and is thus suitable for comparisons within and between studies involving different pollutants. Two basic types of studies are considered: time-series studies involving daily perturbations, and cross-sectional studies involving longer-term spatial gradients. The latter include prospective studies of differences in individual survival rates in different locations and studies of the differences in annual mortality rates for various communities. For a given data set, time-series regression results will vary according to the seasonal adjustment method used, the covariates included, and the lag structure assumed. The results from both types of cross-sectional regressions are highly dependent on the methods used to control for socioeconomic and personal lifestyle factors and on data quality. Amajor issue for all of these studies is that of partitioning the response among collinear pollution and weather variables. Previous studies showed that the variable with the least exposure measurement error may be favored in multiple regressions; assigning precise numerical results to a single pollutant is not possible under these circumstances. We found that the mean overall elasticity as obtained from timeseries studies for mortality with respect to various air pollutants entered jointly was about 0.048, with a range from 0.01 to 0.12. This implies that about 5% of daily mortality is associated with air pollution, on average. The corresponding values from population-based cross-sectional studies were similar in magnitude, but the results from the three recent prospective studies varied from zero to about five times as much. Long-term responses in excess of short-term responses might be interpreted as showing the existence of chronic effects, but the uncertainties inherent in both types of studies make such an interpretation problematic. 相似文献
ABSTRACT Because of the U.S. Environmental Protection Agency’s (EPA) new ambient air quality standard for fine particles, the need is likely to continue for more detailed scientific investigation of various types of particles and their effects on human health. Epidemiology studies have become the method of choice for investigating health responses to such particles and to other air pollutants in community settings. Health effects have been associated with virtually all of the gaseous criteria pollutants and with the major constituents of airborne particulate matter (PM), including all size fractions less than about 20 gm, inorganic ions, carbonaceous particles, metals, crustal material, and biological aerosols. In many of the more recent studies, multiple pollutants or agents (including weather variables) have been significantly associated with health responses, and various methods have been used to suggest which ones might be the most important. In an ideal situation, classical least-squares regression methods are capable of performing this task. However, in the real world, where most of the pollutants are correlated with one another and have varying degrees of measurement precision and accuracy, such regression results can be misleading. This paper presents some guidelines for dealing with such collinearity and model comparison problems in both single- and multiple-pollutant regressions. These techniques rely on mean effect (attributable risk) rather than statistical significance per se as the preferred indicator of importance for the pollution variables. 相似文献