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91.
Assay of hexosaminidase A and B enzymes in four cases with developmental regression and cherry red spot on fundus examination
confirmed that three cases had Tay-Sachs disease, and one case had Sandhoff disease. Prenatal diagnosis was carried out by
hexosaminidase enzyme assay in amniotic fluid and cells in one family, and chorionic villus sample in the second family. The
fetus was diagnosed to be unaffected in one, and affected in the other family. Assay of hexosaminidase A and B is useful for
specific diagnosis of GM2 gangliosidosis, and for prenatal diagnosis to reduce the burden of these disorders. 相似文献
92.
H. H. F. Derkx E. J. Kuijper C. A. P. Fijen M. Jak J. Dankert S. J. H. van Deventer 《European journal of pediatrics》1995,154(9):735-738
We evaluated the complement system in 29 children (mean age: 4.5 years) who survived fulminant meningococcal septic shock. No terminal complement deficiencies were found. One patient, who experienced the most dramatic disease course, had a decreased haemolytic activity in the haemolytis-in-gel test for the alternative pathway. The properdin concentration in serum of this patient was < 0.1 g/ml (n = 17.1–27.7 g/ml). Coagulation studies revealed a heterozygeous type I protein C deficiency as well. He was the only patient with aNeisseria meningitidis group Y infection. 相似文献
93.
V. Lo Cascio J. A. Kanis M. N. C. Beneton F. Bertoldo S. Adami G. Poggi M. E. Zanolin 《Calcified tissue international》1995,56(2):109-112
The aims of this study were to determine (1) whether acute suppression of bone formation could be evaluated after the administration of corticosteroids in man by quantitative bone histomorphometry; and (2) whether there were significant differences between the effects of prednisone and its analog deflazacort. Thirteen patients who needed high-dose corticosteroid therapy were randomly allocated to two groups of treatment (prednisone or deflazacort). Quantitative bone histomorphometry, using the technique of triple labeling, and biochemical measurements of bone turnover were studied. There were no differences in biochemical indices of bone turnover between prednisone and deflazacort at the beginning and end of the 15 days of treatment course. During corticosteroid treatment, there were no significant changes in biochemical indices of bone turnover but a significant decline in total alkaline phosphatase (P<0.01). Histomorphometric indices, as revealed by measurements of tetracycline interval and extent of labeling, showed no significant differences in either mineral apposition rate or bone formation rate in the two groups. We conclude that the acute glucocorticoid suppression of bone turnover by glucocorticoids is not detectable within the first 2 weeks of treatment by histomorphometric techniques. No differences in bone effects of prednisone and deflazacort were detected in this short-term study. 相似文献
94.
目的:检验氧化损伤的牛RPE细胞是否存在p53基因表达的变化和人参皂甙Rg1、Rb1和维生素E对其的影响,以期进一步研究RPE细胞氧化损害的机理.方法:建立牛RPE细胞氧化损伤模型,原位杂交技术测定RPE细胞p53mRNA的表达,免疫组化技术测定p53蛋白表达.结果:p53蛋白表达阳性的牛RPE细胞的细胞核染成黄色,与次黄嘌吟/黄嘌吟氧化酶(HX/XO)组p53蛋白阳性的细胞数相比较,正常对照组,Rg1(0.1mg.L-1)组及VitE(10mg.L-1)组存在显著性差异(P<0.05),而与Rb1(10mg.L-1)组无显著性差异.原位杂交法测定P53mRNA表达,牛RPE细胞P53mRNA表达阳性可在细胞浆内见到位于细胞周边部的蓝紫色絮状物,分别与HX/XO组阳性的细胞相比较,正常对照组,Rg1组及VitE组存在显著性差异(P<0.05),而与Rb1组无显著性差异.结论:氧化损伤可导致基因P53mRNA及其蛋白在RPE细胞内的表达明显增加.人参皂甙Rg1和VitE对抗氧自由基对RPE细胞损伤的机制可能是通过清除氧自由基,影响凋亡基困p53的表达,从而有效地抑制氧自由基对RPE细胞的损伤. 相似文献
95.
96.
Characterization of high-growth reassortant influenza A viruses generated in MDCK cells cultured in serum-free medium 总被引:4,自引:0,他引:4
Voeten JT Brands R Palache AM van Scharrenburg GJ Rimmelzwaan GF Osterhaus AD Claas EC 《Vaccine》1999,17(15-16):1942-1950
In the present study reassortant influenza A viruses of both the H1N1 and H3N2 type were generated in Madin Darby Canine Kidney cells grown in the absence of fetal bovine serum (MDCK-SF1 cells). To this end, MDCK-SF1 cells were simultaneously infected with one of the high-growth laboratory strains A/Puerto Rico/8/34 (H1N1) or A/Hong Kong/2/68 (H3N2) and recent H3N2 and H1N1 vaccine strains, respectively. Reassortant viruses obtained from these mixed infections were genetically characterized by RT-PCR and restriction enzyme analysis and their growth properties were compared to those of the corresponding field strains. Reassortant H3N2 viruses inherited the matrix and polymerase pa gene whilst H1N1 reassortant viruses inherited the matrix and polymerase pbl gene of the high-growth parent. Reassortant viruses generally gave higher viral yields, as measured by a haemagglutination assay, than their wild type counterparts. The procedure followed results in the generation of high-growth reassortant viruses in weeks. The use of MDCK-SF1 cells together with these reassortants for generating influenza virus antigens can significantly speed up the vaccine production procedure. 相似文献
97.
Increased blood pressure in adolescents who were small for gestational age at birth: a cohort study in Brazil. 总被引:1,自引:0,他引:1
BACKGROUND: This paper studies the relationship between birthweight for gestational age and blood pressure in adolescents aged 14-15 years in southern Brazil. METHODS: A sample of 1076 adolescents belonging to a cohort of over 6000 children born in 1982 in Pelotas, southern Brazil, was studied in 1997. All households in a sample of 25% of the city's census tracts were visited and all adolescents born in 1982 were interviewed, weighed, and their blood pressures were measured twice. Data from the adolescents were linked to the database through their names and dates of births. RESULTS: High diastolic and systolic pressure (defined as >95th percentile) were significantly more frequent among adolescents who were born below the 10th percentile of birthweight for gestational age. No association was found between high blood pressure and low birthweight or preterm births. In a multiple linear regression analysis, the association between birthweight for gestational age and blood pressure was not statistically significant after adjusting for age, sex, skin colour and family income. However, when the current body mass index and height were added to the model both diastolic and systolic pressure were significantly associated with birthweight for gestational age, and adolescents who were small for gestational age at birth presented a mean elevation of 3.08 mmHg for diastolic pressure and 2.89 mmHg for systolic pressure. CONCLUSIONS: There is an inverse association between birthweight for gestational age and blood pressure during adolescence. This association, however, is only disclosed when the negative confounding effect of the body mass index is controlled for. The same association is not found when the effects of birthweight and gestational age on blood pressure are analysed separately. It appears therefore that the elevation of blood pressure during adolescence only occurs when there was intra-uterine growth retardation. 相似文献
98.
99.
Wolfgang R. Mayr 《International journal of legal medicine》1977,79(2):87-95
Zusammenfassung Nach einer kurzen Einführung in die Genetik des HLA Systems und der Beschreibung des Parameters D des Koppelungsungleichgewichts wird an Hand einiger Beispiele der Einfluß des Koppelungsungleichgewichts auf die Berechnung von Vaterschaftsausschlußchance und Vaterschaftswahrscheinlichkeit im HLA System demonstriert.Vorgetragen auf der Arbeitstagung über die Anwendung von Rechenprogrammen in der Humangenetik und der Vaterschaftsbegutachtung, 29.9.–30.9.1975 in Bonn 相似文献
100.
Self-cure versus uncontrolled disease progression in experimental murine cutaneous leishmaniasis depends upon a delicate interplay among various activated cells of the host's immune system. Susceptibility or resistance to infection with Leishmania major is correlated with the ability of different inbred strains of mice to produce the characteristic spectra of lymphokines upon infection. Appropriate experimental interventions now allow the modulation of these reponses, providing the possibility to render genetically susceptible mice resistant to infection and, vice versa, to cause genotypically healer strains to express a non-healer phenotype. These experimental manipulations have proven to be powerful tools in the dissection of the underlying immune mechanisms and cellular parameters responsible for susceptibility and resistance, and will perhaps allow the identification of molecules of parasite origin that induce deleterious immune responses to infection with Leishmania, and thus to exclude them from future vaccines. More importantly, rational immune intervention could permit the diversion of established host-damaging immune responses to host-protective immunization. 相似文献