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排序方式: 共有10000条查询结果,搜索用时 473 毫秒
491.
Christine Willekes Frans J. M. E. Roumen MD PhD Anne-Marie W. van Elsacker-Niele Harro T. Weiland Christl Vermey-Keers Johan H. J. M. van Krieken Christine E. M. de Die-Smulders Guus J. H. Hamers Gerrie P. M. Vaes-Peters 《黑龙江环境通报》1994,14(3):181-185
In a case of hydrops fetalis, serological examination showed a recent maternal human parvovirus B19 infection. Amniocentesis revealed a unique unbalanced translocation between chromosomes 3 and 11 of the fetus. The mother proved to have a balanced reciprocal translocation between chromosomes 3 and 11. A grossly macerated hydropic male fetus was delivered with a flat nose and low implanted deformed ears. Histopathological examination revealed nuclear inclusion bodies in fetal erythroid cells, confirming human parvovirus B19 infection. Parvovirus B19 DNA was demonstrated by in situ hybridization in the nuclei of heart muscle cells. Our finding of two different disorders in one case illustrates the importance of a complete evaluation of every case of hydrops fetalis, especially concerning counselling on the outcome of future pregnancies. The human parvovirus B19 infection will not recur due to the acquired immunity of the mother, whereas the balanced reciprocal translocation will endanger future pregnancies. 相似文献
492.
Fetal aspartylglucosaminuria (AGU) was studied during the first trimester of pregnancy in six at-risk pregnancies using chorionic villus samples. The activity of aspartylglucosaminidase (AGA) was high in five cases, indicating an unaffected fetus. This was confirmed through delivery of healthy newborns with a normal pattern of urinary oligosaccharides. Low enzyme activity in an uncultured biopsy specimen and in cultured amniotic fluid cells in one case demonstrated that the fetus was affected. The pregnancy was terminated and the prenatal diagnosis was confirmed by showing reduced AGA activity in cultured fibroblasts of the fetus. 相似文献
493.
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496.
Reverse phase HPLC of radioactive globin chains has been compared to classical carboxy methyl cellulose chromatography for the prenatal diagnosis of β thalassaemia. The two methods correlated highly (r = 0.97 p < 0.0005) and provided an identical diagnosis for 40 fetal blood samples of fetuses homozygous or heterozygous for β thalassaemia. The HPLC procedure was much faster and required fewer biochemical steps (no globin preparation). It was at least as accurate and more sensitive than the classical chromatography. A single column can be used for 150 analyses and is always ready to be used. Last but not least it is much less expensive than CMC chromatography. 相似文献
497.
IntroductionFertilizationisessentialforagriculturalproduction ,butunreasonablyapplyingfertilizerscouldresultinseriesofproblemssuchascropqualitydecline,fertilizeruseefficiencydecrease,residualfertilizerspollution groundwaterandriversandnitrogencontented … 相似文献
498.
P. Robbins-Furman J. T. Hecht M. Rocklin N. Maklad G. Greenhaw I. Wilkins MD 《黑龙江环境通报》1995,15(2):179-182
The diagnosis of Freeman–Sheldon syndrome was made by ultrasonographic evaluation of a 20-week fetus with a positive family history. The ultrasonographic features were abnormalities of the extremities and mouth. 相似文献
499.
Farideh Z. Bischoff PhD Dorothy E. Lewis Joe Leigh Simpson Dianne D. Nguyen Jeffrey Scott Wendy Schober Sarah Murrell Sherman Elias 《黑龙江环境通报》1995,15(12):1182-1184
Recovering and analysing fetal erythrocytes from maternal blood is being pursued for non-invasive prenatal genetic diagnosis. We report the observation of 46, XY/47, XXY mosaicism in fetal cells from a woman whose first-trimester chorionic villus sampling (CVS) initially showed only 46, XY. Only after exhaustive (500 cells) analysis were four XXY cells found in cultured villi. 相似文献
500.
W. F. Carey A. Poulos P. Sharp P. V. Nelson E. F. Robertson J. L. Hughes A. Gill 《黑龙江环境通报》1994,14(9):813-819
Variability in the level of expression of very long chain fatty acids (VLCFAs) is documented in cultured chorionic villus (CV) cells derived from two fetuses, one at risk for an unusual peroxisomal fatty acid β-oxidation defect, and the other at risk for the X-linked form of adrenoleucodystrophy (ALD). Cells from early subcultures of chorionic cells from both cases gave normal values for VLCFA ratios. The results for the fetus at risk for the β-oxidation defect were interpreted to indicate that the fetus was not affected; however, at birth, the infant was clinically and biochemically affected. In the case of the fetus at risk for X-linked ALD, although VLCFAs were normal in subculture 1, the levels of these fatty acids increased dramatically in subculture 3, suggesting an abnormal fetus. Termination of the pregnancy and subsequent biochemical and morphological follow-up confirmed that the fetus was indeed affected by ALD. 相似文献