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Prenatal molecular genetic diagnosis for Noonan syndrome I is reported. Noonan syndrome was suspected because of large cystic hygroma colli, massive pleural effusion and ascites at 23 weeks of gestation and normal karyotype (46,XX). DNA was prepared from amnion cells and screened for mutations in the PTPN11 gene. In exon 8, a missense mutation (S285F) was found. Delivery was induced at 33 weeks of gestation because of silent cardiotocography (CTG). Despite immediate drainage of the hydrothorax, mechanical ventilation was insufficient and the child died 9 h after birth due to severe pulmonary hypoplasia. Pleural punctate was enriched for small lymphocytes and thus was characterized as chylus. Prenatal ultrasound findings in Noonan syndrome usually are unspecific and rarely lead to a diagnosis. However, with the combination of cystic hygroma, pleural effusion, ascites and normal karyotype Noonan syndrome should be considered and DNA testing for PTPN11 mutations may be appropriate. Malformations of lymphatic vessels and/or chylothorax in Noonan syndrome seem to be more frequent than usually anticipated. Copyright © 2005 John Wiley & Sons, Ltd.  相似文献   
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The use of statolith chemistry to trace migration pathways and distinguish populations of cephalopods is based on the assumption that the elemental composition of statoliths is influenced by physicochemical properties of the ambient environment. However, such influences have not been investigated experimentally up until now. This study presents the first microchemical analyses of cephalopod statoliths obtained from laboratory experiments under different controlled temperature and salinity conditions. Our results show that statolith chemical composition is strongly related to both salinity and temperature in ambient waters. The Ba/Ca ratio is negatively related to temperature and shows no relation to salinity. The I/Ca ratio is positively related to temperature and negatively to salinity. No Sr/Ca relation was found to either salinity or temperature, suggesting that the well-established proxy strontium is not as useful in cephalopod statoliths as in other biomineralized aragonites. Microanalysis of trace elements, however, shows an enormous potential for field studies on distribution, migration and stock separation of cephalopods. Furthermore, Synchrotron X-ray Fluorescence Analysis is introduced as a promising novel method for statolith analysis, providing a spatial resolution of typically 10–15 μm combined with detection limits down to 0.5 ppm.  相似文献   
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Large quantities of floating macroalgae are traveling in coastal waters of the SE Pacific and in other temperate climate zones. While afloat, these algae are potentially exposed to full solar radiation, including UVA and UVB, which can have profound effects on their physiological and growth performance. Latitudinal variations in UV-radiation (UVR) are hypothesized to affect floating algae differently with higher impacts at low latitudes than at high latitudes. In addition, UVR together with grazing might accelerate the demise of floating kelps. This hypothesis was tested with outdoor laboratory experiments in which sporophytes of the giant kelp Macrocystis pyrifera (L.) C. Agardh were exposed to a combination of different UVR regimes (PAR only, PAR + UV) and grazing at three sites along the Chilean coast (20°S, 30°S, and 40°S). A latitudinal trend in irradiance was detected with increasing values from 40°S to 20°S. Surprisingly, floating M. pyrifera responded with a high acclimation potential within this latitudinal UVR gradient. At 20°S, floating kelps were slightly sensitive to UVR, which was reflected in reduced blade growth. At 30°S, physiological responses were hardly affected by the prevailing irradiance but sporophyte growth and thus persistence mainly depended on the presence or absence of amphipod grazers. At high latitudes, grazing had only minor impacts on algal biomass and blade growth, and kelps thrived well under all tested environmental conditions. Overall, our results reveal that floating M. pyrifera was only slightly affected by UVR and that sporophytes can efficiently acclimate over a latitudinal UVR gradient that spans from 20°S to 40°S. Given this high acclimation potential, we suggest that these (and possibly other) positively buoyant algae are important dispersal agents over a wide range of temperate latitude conditions.  相似文献   
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The Positive Matrix Factorization (PMF) receptor model version 1.1 was used with data from the fine particulate matter (PM2.5) Chemical Speciation Trends Network (STN) to estimate source contributions to ambient PM2.5 in a highly industrialized urban setting in the southeastern United States. Model results consistently resolved 10 factors that are interpreted as two secondary, five industrial, one motor vehicle, one road dust, and one biomass burning sources. The STN dataset is generally not corrected for field blank levels, which are significant in the case of organic carbon (OC). Estimation of primary OC using the elemental carbon (EC) tracer method applied on a seasonal basis significantly improved the model's performance. Uniform increase of input data uncertainty and exclusion of a few outlier samples (associated with high potassium) further improved the model results. However, it was found that most PMF factors did not cleanly represent single source types and instead are "contaminated" by other sources, a situation that might be improved by controlling rotational ambiguity within the model. Secondary particulate matter formed by atmospheric processes, such as sulfate and secondary OC, contribute the majority of ambient PM2.5 and exhibit strong seasonality (37 +/- 10% winter vs. 55 +/- 16% summer average). Motor vehicle emissions constitute the biggest primary PM2.5 mass contribution with almost 25 +/- 2% long-term average and winter maximum of 29 +/- 11%. PM2.5 contributions from the five identified industrial sources vary little with season and average 14 +/- 1.3%. In summary, this study demonstrates the utility of the EC tracer method to effectively blank-correct the OC concentrations in the STN dataset. In addition, examination of the effect of input uncertainty estimates on model results indicates that the estimated uncertainties currently being provided with the STN data may be somewhat lower than the levels needed for optimum modeling results.  相似文献   
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Trichloroacetic acid (TCA, CCl(3)COOH) is a phytotoxic chemical. Although TCA salts and derivates were once used as herbicides to combat perennial grasses and weeds, they have since been banned because of their indiscriminate herbicidal effects on woody plant species. However, TCA can also be formed in the atmosphere. For instance, the high-volatile C(2)-chlorohydrocarbons tetrachloroethene (TECE, C(2)Cl(4)) and 1,1,1-trichloroethane (TCE, CCl(3)CH(3)) can react under oxidative conditions in the atmosphere to form TCA and other substances. The ongoing industrialisation of Southeast Asia, South Africa and South America means that use of TECE as solvents in the metal and textile industries of these regions in the southern hemisphere can be expected to rise. The increasing emissions of this substance--together with the rise in the atmospheric oxidation potential caused by urban activities, slash and burn agriculture and forest fires in the southern hemisphere--could lead to a greater input/formation of TCA in the vegetation located in the lee of these emission sources. By means of biomonitoring studies, the input/formation of TCA in vegetation was detected at various locations in South America, North America, Africa, and Europe.  相似文献   
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