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In this paper we describe the use of five-colour fluorescence in situ hybridization for prenatal diagnosis of aneuploidy using uncultured amniotic fluid cells. The analysis is based on ratio mixing of dual-labelled probes and digital imaging for the detection and visualization of five different probes specific for the five target chromosomes, 13, 18, 21, X, and Y. A retrospective blind analysis of 30 coded uncultured amniotic fluid samples correctly detected fetal sex and five trisomy 21 cases. Multicolour fluorescence in situ hybridization used in this way allows rapid and simultaneous detection of the most frequent aneuploidies. 相似文献
396.
Dr. Yash P. Agrawal Päivi Ylikangas Markku T. Parviainen Ilkka M. Penttilä 《黑龙江环境通报》1994,14(12):1141-1149
The histochemical measurement of urea-resistant alkaline phosphatase from maternal blood neutrophils is known to have a high detection rate for the prenatal detection of Down's syndrome pregnancies. However, because the histochemical method is laborious and subjective to use, it has not gained widespread acceptance in prenatal screening programmes. We present a simple and objective method for the measurement of urea-resistant alkaline phosphatase by flow cytometry. The method should allow the design of larger studies aimed at evaluating the role of neutrophil urea-resistant alkaline phosphatase in the prenatal screening for Down's syndrome. 相似文献
397.
Ultrasound examination at 12 weeks' gestation revealed severe generalised subcutaneous oedema in a pregnancy at risk for achondrogenesis type II. Transvaginal scanning confirmed the oedema and suggested abnormal limb development. The prenatal diagnosis was confirmed by X-ray examination after transvaginal termination. 相似文献
398.
A. Caruso A. Lanzone V. Bianchi M. Massidda M. P. Castelli A. M. Fulghesu Professor S. Mancuso 《黑龙江环境通报》1987,7(1):41-50
The efficacy of the insulin infusion pump (CSII) in pregnancy was examined in 12 diabetic patients and compared with intermittent insulin therapy (IIT). In patients poorly controlled on IIT constant and rapid equilibrium was achieved with CSII (mean of glucose levels: CSII versus IIT=84 versus 137 mg/dl; S.D. = 36 versus 63 mg/dl; mean amplitude of glycemic excursion (MAGE)=65 versus 112 mg/dl. In patients well controlled on IIT, CSII led to a reduction in the variation of glucose excursions (S.D.= 29 versus 36 mg/dl; MAGE=48 versus 76 mg/dl). CSII generally produced a reduction of 20–37 per cent of daily insulin dose (in three cases there was an increase of dose with the achievement of glycemic control). Furthermore in CSII treated-patients amniotic glucose, insulin and C-peptide concentrations werefound tobeinthenormalrange(22.1±10.1 mg/dl; 5.2±2.7μ/ml; 1.25±0.71 ng/ml, respectively). All infants were horn at or near-term, had no macrosomia or neonatal problems. It is concluded that CSII is a highly efficient way to achieve normal glucose levels in pregnancy, not only in type I, hut also in type II or gestational diabetes. 相似文献
399.
V. P. Whittaker 《Die Naturwissenschaften》1977,64(12):606-611
The electric organ of Torpedo, besides providing abundant amounts of cholinoceptive post-synaptic membrane for the isolation of the acetylcholine receptor protein, is a rich source of cholinergic nerve terminals. Using perfused, innervated tissue blocks from which synaptic vesicles in different functional states can be isolated, much information can be obtained about synaptic-vesicle dynamics. So far this is consistent with the view that the synaptic vesicles are the source of transmitter released on stimulation and that uptake of newly synthesized transmitter by the vesicles is dependent on their having discharged their previous charge of transmitter in at least one cycle of exo- and endocytosis. Studies of the protein composition of the vesicle membrane, especially when combined with similar information about the external presynaptic membrane, purified samples of which are now available from synaptosome (T-sac) preparations, promise to throw new light on the molecular mechanism underlying vesicle exo-/endocytosis. 相似文献
400.
Andreas Züttel 《Mitigation and Adaptation Strategies for Global Change》2007,12(3):343-365
Hydrogen storage and transportation or distribution is closely linked together. Hydrogen can be distributed continuously in
pipelines or batch wise by ships, trucks, railway or airplanes. All batch transportation requires a storage system but also
pipelines can be used as pressure storage system. Hydrogen exhibits the highest heating value per weight of all chemical fuels.
Furthermore, hydrogen is regenerative and environment friendly. There are two reasons why hydrogen is not the major fuel of
toady’s energy consumption: First of all, hydrogen is just an energy carrier. And, although it is the most abundant element
in the universe, it has to be produced, since on earth it only occurs in the form of water. This implies that we have to pay
for this energy, which results in a difficult economic task, because since the industrialization we are used to consuming
energy for free. The second difficulty with hydrogen as an energy carrier is the low critical temperature of 33 K, i.e. hydrogen
is a gas at room temperature. For mobile and in many cases also for stationary applications the volumetric and gravimetric
density of hydrogen in a storage system is crucial. Hydrogen can be stored by six different methods and phenomena: high pressure
gas cylinders (up to 800 bar), liquid hydrogen in cryogenic tanks (at 21 K), adsorbed hydrogen on materials with a large specific
surface area (at T < 100 K), absorbed on interstitial sites in a host metal (at ambient pressure and temperature), chemically bond in covalent
and ionic compounds (at ambient pressure), oxidation of reactive metals e.g. Li, Na, Mg, Al, Zn with water. These metals easily
react with water to the corresponding hydroxide and liberate the hydrogen from the water. Finally, the metal hydroxides can
be thermally reduced to the metals in a solar furnace. 相似文献