Biomedical subjects
Publications and source records attributed to K Gyurkovits.
Gilbert disease was diagnosed in a 15-year-old boy on the basis of the clinical pattern and the changing drug-metabolizing capacity of the liver-enzyme apparatus, which was drug-induced.
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The superoxide dismutase and catalase activities and the lipid peroxidation values in the blood of healthy volunteers were compared with those of children of various ages and of both sexes with cystic fibrosis and with those of the heterozygous parents of these children. The red blood cell superoxide dismutase and catalase activities in children with cystic fibrosis and in their parents are significantly increased. At the same time, the lipid peroxidation of the red blood cells (the quantity of thiobarbituric acid reactive substance) is significantly reduced.
Three cases involving simultaneous occurrence of congenital hepatic fibrosis (CHF) and polycystic kidneys (PCK) are reported. In two infantile forms hepatic fibrosis accompanying polycystic renal lesion was revealed only on autopsy; the third patient has been kept under observation for seven years. Emphasis is laid on the importance of early diagnosis if serious complications are to be prevented. The pathogenesis of the disease is discussed on the basis of light and electron microscopic investigations of repeatedly taken liver and kidney biopsy material.
The phenotype and genotype distributions and the gene frequencies of the Duffy blood group system and the phosphoglucomutase and glutamatepyruvate transaminase red blood cell enzyme systems were examined in mucoviscidosis homo- and heterozygotes, and the results were compared with the data for the average Hungarian population. In view of the amylase defect in mucoviscidosis, a study was made of the variations in distribution of the protein products of adjacent gene loci (Duffy and phosphoglucomutase), and of the association of identical geno-types (Duffy and phosphoglucomutase homo- and homozygosity, or hetero- and heterozygosity). In the mucoviscidosis homo- and heterozygotes, the percentage values agreed with those for the average population, both for the phenotypes and genotypes of the individual blood groups and the above enzymes, and for the gene frequencies. No differences specific for mucoviscidosis were found for Duffy and phosphoglucomutase. No common genetic regulation could be found between the adjacent gene loci (amylase and Duffy or phosphoglucomutase).
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A simple method has been elaborated for the routine separation and quantitative determination of amylase isoenzymes. The ratio P/S, the quotient of the activity values obtained by densitometric evaluation of the pancreatic and salivary isoenzymes, is used to characterize their distribution. In healthy adults and children the value for P/S is above 1 in 80% of the cases, with a mean of 1.87 +/- 0.23. In 90% of heterozygote CF gene-carriers, the P/S is below 1 with a mean of 0.68 +/- 0.13. In addition to the higher total amylase activity, in MV homozygote patients P/S is less than 0.1, and even 0.001. The phenomenon is explained by a compensatory enhancement of salivary activity. The method is a suitable diagnostic test of the exocrine function of the pancreas and for evaluation of the serum amylase isoenzymes. The P/S value allows to differentiate heterozygote CF gene-carriers from homozygotes and healthy individuals.
Twelve homozygote patients and thirty-two heterozygote gene carriers from families with cystic fibrosis were HLA-typed. Diagnostic criteria were sweat electrolyte concentration, pancreatic enzyme levels from duodenal juice and stool, Szczepanski's bromide test in the group of homozygotes, and the latter only in the cases of heterozygotes. In comparison with 130 healthy blood donors typed for 29 HLA antigens. B18 proved to be more frequent in the group of patients and gene carriers, with 50 and 31%, respectively, and 14% in the normal population. The association seems to be stronger in the homozygotes than in the heterozygotes (p less than 0.02, respectively).
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Total amylase activity of serum and mixed saliva was studied in homozygotes and heterozygotes for mucoviscidosis and in healthy subjects. Mean serum total activity was 269.0 +/- 113.7 U/l in the homozygotes, exceeding in nearly 50% of the cases the values given in the literature and those observed in the normal controls. The difference against the control group was significant (P less than 0.05). Mean serum total amylase activity of heterozygotes agreed with the mean value for the healthy group (203.5 +/- 79.5 U/l) without a significant difference. Total amylase activity in the saliva of homozygotes (148.700 +/- 65.700 U/l) was higher than in the heterozygotes /118.300 +/- 74.200 U/l) of the healthy children (51.700 +/- 26.500 U/l). The difference between the homozygous and healthy groups was strongly significant (P less than 0.01), and that between the heterozygous group and the combined healthy children and adult groups was also significant (P less than 0.05). In the heterozygotes, salivary amylase activity was slightly elevated but not significantly different from the control group and did not result in a change in serum total amylase activity.
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Impedance of the total respiratory system was measured in 121 healthy children aged 4-16 years during spontaneous breathing by pseudo-random forced oscillations between 3 and 10 Hz. Total respiratory resistance (Rrs), inertance (Irs) and compliance (Crs) were determined by least-mean-squares fitting. Estimates for inertance were reliable only for the larger children, where the values of Irs (0.0127 +/- 0.0034 SD) were similar to those reported for normal adults. Rrs correlated significantly (P less than 0.001) with height (r = -0.868), age (r = -0.865), and, in a subpopulation of the 6- to 16-year-old children, with forced vital capacity (r = -0.803). The corresponding correlation coefficients for Crs were 0.873, 0.844, and 0.853, respectively. Crs amounted to about a third of the static total compliance values of Sharp et al. (J Appl Physiol 1970; 29: 775-779) over the same interval of heights. In these relationships no significant difference was found between boys and girls.