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排序方式: 共有124条查询结果,搜索用时 15 毫秒
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Dr. Susanna Bunge Cordula Steglich Peter Lorenz Michael Beck Suying Xu John J. Hopwood Andreas Gal 《黑龙江环境通报》1994,14(9):777-780
Identification of iduronate-2-sulphatase (IDS) gene mutations in patients with mucopolysaccharidosis type II (MPS II, Hunter syndrome) allows fast and reliable carrier detection and prenatal diagnosis. We describe here three cases of prenatal diagnosis by direct detection of the gene mutation. In addition to two affected male fetuses from two different families, a 47,XXY fetus carrying both the normal and the mutant allele was diagnosed in a third family. The latter pregnancy was carried to term and the child is obviously not affected by MPS II. 相似文献
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J. G. Westergaard J. Chemnitz B. Teisner H. K. Poulsen L. Ipsen Bente Beck J. G. Grudzinskas 《黑龙江环境通报》1983,3(3):225-232
The concentration of human placental lactogen (hPL), pregnancy specific beta-1 glycoprotein (SP-1) and pregnancy-associated plasma protein A (PAPP-A) were analysed in consecutive serum samples from a patient who gave birth to a child with Cornelia de Lange syndrome. HPL and SP-1 were present in normal concentrations from week 20 to week 35 of gestation whereas PAPP-A could not be detected in any of the samples examined. Immunohisto-chemical examination of two placentae from Cornelia de Lange syndrome revealed normal localization of hPL and SP-1 but the absence of PAPP-A from the syncytiotrophoblast. The significance of association between Cornelia de Lange syndrome and compromised synthesis of PAPP-A is discussed. 相似文献
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Diet induced differences in carbon isotope fractionation between sirenians and terrestrial ungulates
Carbon isotope differences (Δ13C) between bioapatite and diet, collagen and diet, and bioapatite and collagen were calculated for four species of sirenians,
Dugong dugon (Müller), Trichechus manatus (Linnaeus), Trichechus inunguis (Natterer), and the extinct Hydrodamalis gigas (Zimmerman). Bone and tooth samples were taken from archived materials collected from populations during the mid eighteenth
century (H. gigas), between 1978 and 1984 (T. manatus, T. inunguis), and between 1997 and 1999 (D. dugon). Mean Δ13C values were compared with those for terrestrial ungulates, carnivores, and six species of carnivorous marine mammals (cetaceans = 1;
pinnipeds = 4; mustelids = 1). Significant differences in mean δ13C values among species for all tissue types were detected that separated species or populations foraging on freshwater plants
or attached marine macroalgae (δ13C values < −6‰; Δ13Cbioapatite–diet ∼14‰) from those feeding on marine seagrasses (δ13C values > −4‰; Δ13Cbioapatite–diet ∼11‰). Likewise, Δ13Cbioapatite–collagen values for freshwater and algal-foraging species (∼7‰) were greater than those for seagrass-foraging species (∼5‰). Variation
in Δ13C values calculated between tissues and between tissues and diet among species may relate to the nutritional composition of
a species’ diet and the extent and type of microbial fermentation that occurs during digestion of different types of plants.
These results highlight the complications that can arise when making dietary interpretations without having first determined
species-specific Δ13Ctissue–diet values.
Electronic supplementary material The online version of this article (doi:) contains supplementary material, which is available to authorized users. 相似文献
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Sheikh Md Rajiuddin Tenna Jensen Tina Beck Hansen Anna Charlotte Schultz 《Food and environmental virology》2020,12(3):226-239
Detection of norovirus (NoV) and hepatitis A virus (HAV) on fruits and vegetables using current standard methodologies can be inefficient. Method optimisat 相似文献
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Elisa Doné Leonardo Gucciardo Tim Van Mieghem Jacques Jani Mieke Cannie Dominique Van Schoubroeck Roland Devlieger Luc De Catte Philipp Klaritsch Steffi Mayer Veronika Beck Anne Debeer Eduardo Gratacos Kypros Nicolaides Jan Deprest 《黑龙江环境通报》2008,28(7):581-591
Congenital diaphragmatic hernia (CDH) can be associated with genetic or structural anomalies with poor prognosis. In isolated cases, survival is dependent on the degree of lung hypoplasia and liver position. Cases should be referred in utero to tertiary care centers familiar with this condition both for prediction of outcome as well as timed delivery. The best validated prognostic indicator is the lung area to head circumference ratio. Ultrasound is used to measure the lung area of the index case, which is then expressed as a proportion of what is expected normally (observed/expected LHR). When O/E LHR is < 25% survival chances are < 15%. Prenatal intervention, aiming to stimulate lung growth, can be achieved by temporary fetal endoscopic tracheal occlusion (FETO). A balloon is percutaneously inserted into the trachea at 26–28 weeks, and reversal of occlusion is planned at 34 weeks. Growing experience has demonstrated the feasibility and safety of the technique with a survival rate of about 50%. The lung response to, and outcome after FETO, is dependent on pre-existing lung size as well gestational age at birth. Early data show that FETO does not increase morbidity in survivors, when compared to historical controls. Several trials are currently under design. Copyright © 2008 John Wiley & Sons, Ltd. 相似文献
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In-vessel composting of an aged coal-tar contaminated soil from a manufactured gas plant site was investigated over 98days using laboratory-scale in-vessel composting reactors. The composting reactors were operated at 18 different operational conditions using a logistic three-factor factorial design with three temperatures (T=38, 55 and 70 degrees C), four soil to green waste ratios (S:GW; 0.6:1, 0.7:1, 0.8:1 and 0.9:1 on a dry weight basis) and three moisture contents (MC; 40%, 60% and 80%). Excitation-emission matrix (EEM) fluorescence spectroscopy was used to investigate organic matter dynamics in the composting mixture. The results of this investigation indicated that formation of humic substances can be monitored by fluorescence excitation-emission matrix, and provided evidence of progressive mineralization or humification of the composting mixture. Peak excitation wavelength shifts and peak fluorescence intensity can both be used as indicators to monitor the humification or maturation of compost. Finally, the fluorescence index can be applied to investigate the origin of humic substances and fulvic acids, and the humification or maturation of compost. 相似文献
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The role that genetic and environmental factors play in triggering neural tube defects in the mouse mutant curly-tail (ct) were investigated by transplanting curly-tail blastocysts into the uterus of either curly-tail females or females of an unrelated A strain with a low natural incidence of abnormalities of the neural tube. The percentages of fetuses with neural tube defects were found to be similar in both groups. These results show that in curly-tail mice exencephaly and spina bifida are manifested independently of the maternal environment. 相似文献