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991.
992.
We studied the molecular basis of protein C deficiency in a family with a history of thromboembolic disease. An approximately 50% reduction in anticoagulant activity despite normal levels of protein C amidolytic activity and antigen was detected in plasma from the proband. All the exons and intron/exon junctions of the protein C gene were studied using a strategy that combined polymerase chain reaction amplification with DNA sequencing of the amplified fragments. We identified a C-to-A change at nucleotide number 1387 of the protein C gene in the proband and his mother, and this mutant was designated protein C Osaka 10. The C-to-A change resulted in the substitution of Ser for Arg at position -1, which is the processing protease cleavage site. The mutant protein C was partially purified from plasma of the patient's mother using barium adsorption followed by ion-exchange column chromatography. It eluted at the same sodium chloride concentration as normal protein C, and thus gamma-carboxylation of the mutant protein appeared to be normal. The apparent molecular weight of this mutant protein C was the same as that of the normal protein on immunoblotting. Amino-terminal sequence analysis showed that the light chain of the mutant protein C had an additional Ser at position-1. Thus, the loss of anticoagulant activity of protein C Osaka 10 can be explained by alteration of the conformation of the Gla domain by the additional Ser in the mutant molecule. 相似文献
993.
Between July 1993 and December 1994 five term infants of mothers with Graves' disease were hospitalised at the Frühgeburtenstation of the Univ.-Frauenklinik Graz. Four Mothers had elevated TSH-receptor-antibody (TRAb)--levels during pregnancy, one had normalised TRAb-titers. In one case hyperthyroidism was first diagnosed during pregnancy. Three newborns had elevated TRAb-titers; in one of them thyrotoxicosis was diagnosed clinically and biochemically at the second day of life, one newborn had mild hyperthyroidism with tachycardia at the end of the first week of life and one newborn was asymptomatic by immediately initiated therapy. The two other newborns had normal thyroid hormone and antibody levels and no symptoms or signs of hyperthyroidism. The cases are reported and discussed in detail and our overall approach to diagnosis and treatment of neonatal hyperthyroidism in case of maternal Graves' disease will be given. 相似文献
994.
995.
C Gay H Tronchon P Divry G Teyssier MT Freycon F Freycon 《Canadian Metallurgical Quarterly》1993,48(12):894-897
The authors report two cases of citrullinemia in siblings which add to 68 observations from the literature. They overview the clinical presentation, diagnosis and therapeutic management of the disease. The prognosis of severe neonatal form remains poor but an early adequate management may contribute to an acceptable outcome. 相似文献
996.
997.
Guo Ya-kun Wen Xian-yun Institute of Hydraulic Research Chengdu University of Science Technology Chengdu P.R.China 《水动力学研究与进展(B辑)》1993,(1)
In this paper,using complex functional theory,the authors turn the potentialflow around the surface irregularities in a pressure conduit and semi-infinite platforms intoDirichlet problem.Based on Schwarz formula and by the application of Plemelj's formula,theauthors change the problem into the integration of a Cauchy boundary integral equation in theflow plane through the substitution of variables.Using numerical integration,the authors obtainthe velocity distribution and pressure coefficient along surface irregularities and platforms.Thephysical concept of this method is clear,the convergent speed is rapid and the computative effi-ciency is high.The calculated values agree well with the measured results.It is an effective andsimple method in solving potential flow. 相似文献
998.
P Lund-Johansen I Hjermann BM Iversen E Thaulow 《Canadian Metallurgical Quarterly》1993,113(6):732-735
Alpha-receptor blockers reduce blood pressure by blocking of the alpha 1-receptors in the smooth muscle cells in the arteriolar walls. The heart pump function is not disturbed. Most studies have shown that the alpha-receptor blockers induce a reduction in plasma-triglycerides and an increase in the ratio between HDL- and LDL-cholesterol. They do not interfere with the metabolism of electrolytes, glucose or uric acid and have no negative effect on pulmonary function. Although long-term use does not induce a permanent increase in heart rate, some patients respond to initial therapy with faster heart rate and palpitations. The alpha-receptor blockers should not be used in patients with coronary heart disease if the patient is not on chronic beta-blockade. When these precautions are followed, the alpha-blockers can be used as first-line treatment--just like ACE-inhibitors and calcium-antagonists. 相似文献
999.
1000.