[Diagnostic value of the determination of free oxyproline in hereditary and acquired collagenoses].

Oxyproline is one of the major collagen amino acids, which enables it to be regarded as a marker that reflects the catabolism of this protein. The purpose of this investigation was to ascertain the diagnostic value of free oxyproline in patients with hereditary and acquired collagenoses. The examinees were divided into 2 groups: (1) patients with hereditary collagenoses and (2) those with acquired ones. The content of free oxyproline was studied by the modified methods proposed by T. P. Kuznetsova. Comparison of the amount of free oxyproline in patients in both groups revealed that this index in patients with hereditary collagenoses was 1.4 times higher than that in those with acquired connective tissue diseases.

[Diagnostic value of the determination of hyperphenylalaninemia in the newborn].

Blood enzyme immunoassay was carried out to determine the level of phenylalanine in 90 newborn infants. Elevated blood phenylalanine was found in 42 (46.7%) children. These children were re-examined at months 3 and 6. A control group included 48 children of the same age who had normal blood phenylalanine levels. Ten of the 42 patients with hyperphenylalaninemia (HPA) were diagnosed as having various psychoneurological disorders as increased neuroreflex excitability, convulsions, static motor dysfunctions, and mental retardation. The prevalence of anemia, rickets, atopic dermatitis, hypotrophy was statistically higher in infants with HPA.

[Methemoglobin level and its comparison with levels of globins and membrane proteins in erythrocytes of patients with beta-thalassemia]. / Soderzhanie metgemoglobina i ego sravnenie s kolichestvom globinovykh i membrannykh belkov éritrotsitov u bol'nykh s beta-talassemiiami.

On the basis of conducted biological-and-chemical research, the clinical-and-genetic forms of beta-thalassemia were revealed, as well as fractions and the quantity of globin chains and membrane proteins were defined. The methods of electrophoresis and of isoelectrofocusing were made use of within the case study to separate between the globin chains and the membrane proteins. Samples of venous blood obtained from one hundred and one children with beta-thalassemia and from 45 donors were tested. Higher and lower values for different globin chains were found in investigating the quantitative ratios of various globin chains in patients with beta+, beta 0- and heterozygote variations of beta-thalassemia. Reliable changes in the quantitative content of main membrane proteins were observed in patients with heterozygote beta-thalassemia. The final study data denote that an excessive accumulation of alpha-globin chains in heterozygote beta-thalassemia is accompanied by a higher level of methemoglobin and by changed quantities of globin chains and membrane proteins.

[Evaluation of the use of isoelectrofocusing method for measuring glycated hemoglobin]. / Otsenka sposoba opredeleniia kolichestva glikirovannogo gemoglobina izoélektrofokusirovaniem.

Measurement of HbA1c is important for the diagnosis of early forms of diabetes mellitus, hemolytic and sickle-cell anemia, as it can be used for optimal and permanent monitoring of hyperglycemia and serve as an indicator of hemolysis process. Isoelectrofocussing method (IEF) was modified for measuring HbA1c in polyacrylamide gel (pH 3.5-9.5) on an LKB multiphore (Sweden). HbA1c was measured in 350 patients with diabetes mellitus, sickle-cell and hemolytic anemia, and in 120 donors. In diabetics the mean content of HbA1c was 9.2 +/- 1.2%, in patients with hemolytic anemia 3.8 +/- 0.2%, and in patients with sickle-cell anemia 3.9 +/- 0.28%, vs. the normal value of 5.2 +/- 0.13%. Hence, our experiments demonstrated the possibility of wide use of IEF in our modification for identification of the above diseases in clinical laboratory.

[Familial case of methemoglobinemia associated with glucose-4-phosphate dehydrogenase deficiency]. / Semeinyi sluchai metgemoglobinemii v sochetanii s defitsitom gliukozo-4-fosfatdegidrogenazy.

More than 1500 umbilical blood samples from newborns were examined by modified analytical isoelectric focussing method on polyacrylamide-ampholine gels at Ph3.5-9.5 and 5.5-8.5 with Multiphor-2117. Hemoglobin fractions were measured by laser densitometer 22P2 (LKB, Sweden). Methemoglobinemia type was identified by methemoglobin content, methemoglobin reductase activity, Betke's coefficient, and by analyzing the spectra of blood hemolysates containing group M hemoglobin. Methemoglobinemia due to low methemoglobin reductase activity was detected in one child. Increased levels of methemoglobin were detected in his father, mother, grandmother, and grandfather. Methemoglobin reductase activity was not detected in the proband, his mother and grandfather. Zero methemoglobin reductase activity in the proband was combined with zero glucose-6-phosphate dehydrogenase activity. Grandmother was found to be a heterozygotic carrier of these enzymes genes. Glutathione reductase activity was found reduced below the norm in all the members of this family.

[Detection of combined forms of hemoglobino- and enzymopathies in newborns]. / Vyiavlenie sochetannykh form gemoglobino- i énzimopatii u novorozhdennykh.

In order to develop a rational and early detection of combined forms of hemoglobin and enzymopathies, 1500 samples of neonatal cord blood were tested for alpha- and beta-thalassemia, of abnormal hemoglobins S and C, of methemoglobinemia and for hereditary persistence of fetal hemoglobin as well as 428 samples were examined for glucose-6-phosphate dehydrogenase (EC 1.1.1.49) and glutathione reductase (EC 1.6.4.2) deficiencies. For this purpose, isoelectrofocusing in Multiphor-2117 polyacrylamide-ampholine plates (LKB, Sweden) at pN 3.5-9.5 and pH 5.5-8.5 was carried out with subsequent laser densitometry of gels (Densitometer 2202, LKB). The data obtained were analyzed simultaneously in biochemical, hematological and genealogical studies. Hereditary impairments detected were evidenced by genealogical analysis.

[Diagnosis of experimental diabetes mellitus using isoelectric focusing of hemoglobin]. / Diagnostika éksperimental'nogo sakharnogo diabeta s pomoshch'iu metoda izoélektricheskogo fokusirovaniia gemoglobina.

Glycosylated hemoglobin levels were measured in dogs with experimental diabetes mellitus over two months after hyperglycemia onset. Diabetes was induced by pancreas resection combined with intraarterial alloxan infusion. Modified isoelectrofocusing in PAAG plates was used for glycosylated hemoglobin measurements. Its concentration was found to increase by 55% 4 weeks after diabetes development and to persist growing, making up 183% of its initial level in 2 months. The suggested method of isoelectric focussing in PAAG plates may be used to monitor glycemia in diabetes.

[Dynamics of glycosylated hemoglobin and malondialdehyde contents in experimental diabetes mellitus]. / Dinamika soderzhaniia glikozilirovannogo gemoglobina i malonovogo dial'degida pri éksperimental'nom sakharnom diabete.

The levels of HbAIc, malonic dialdehyde (MDA), sugar and insulin were measured in the blood of dogs with experimental diabetes mellitus. HbAIc increased from postoperative week 4 to week 8 of the observation period. MDA levels stood high for postoperative week 1, returned to the baseline, rerose on week 4 and remained high till week 8. Hyperglycemia was observed through the whole experiment.

[Hereditary glucose-6-phosphate dehydrogenase deficiency in newborn infants]. / Nasledstvennyi defitsit gliukozo-6-fosfatdegidrogenazy u novorozhdennykh.

Early diagnosis of the deficiency of glucose 6-phosphate dehydrogenase was made in examining 428 samples of funic blood from 230 boys and 198 girls. The normal level of the enzyme activity was established in red blood cells of the healthy newborn with regard to the national and sexual differences. The hereditary character of the deficiency of glucose 6-phosphate dehydrogenase was supported in 37 neonates by analyzing the pedigrees. The enzyme deficiency was associated with different forms of hemoglobinopathies: alpha- and beta-thalassemia, structurally abnormal hemoglobin S and methemoglobinemia. The considerable prevalence of the deficiency of glucose 6-phosphate dehydrogenase was revealed in Azerbaijan for the first time. The phenotypic frequency amounted to 8.64% whereas the gene one to 0.0623.