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Biomedical subjects

A M Kuliev

Publications and source records attributed to A M Kuliev.

17 recordsLinked to original sources
PubMed1991

[Prenatal diagnosis of beta-thalassemia].

Mass screening of married couples in the town of Baku has revealed a couple at risk of giving birth to a child with homozygotic beta-thalassemia. Prenatal diagnosis was carried out during week 23 of pregnancy by means of cordocentesis and biochemical analysis of globin chains, in vitro synthesized in fetal blood in the presence of labeled leucin. beta-thalassemia was detected in the fetus, similarly as in the child in this family. Abortion was induced on pregnancy week 25. Prenatal diagnosis is recommended in case of another pregnancy during the first trimester, involving analysis of the chorionic villi DNA.

Adult↗
PubMed1991

[Results of the cytogenetic prenatal diagnosis in the first and second trimesters of pregnancy].

The authors analyze the results of prenatal diagnosis carried out in women during the first and second pregnancy trimesters. Cytogenetic screening was carried out in risk-group pregnant women, i.e. in women aged over 36, in cases with family history of chromosome mutation or a previous child with chromosome aberration, or a sex-linked disease in one of family members, etc. Chromosome preparations from amniotic fluid cell cultures and 'direct' chromosome preparations from chorionic villi were analyzed. The authors discuss the efficacy of prenatal diagnosis in various pregnancy periods, fetal tissue collection methods and quantities necessary for the examination.

Adult↗
PubMed1990

Problems in the control of genetic disorders.

Preventive genetics services based on population screening are now an integral part of maternal and child health programmes. New developments in DNA technology, ultrasound scanning, and assay of factors in maternal blood are greatly increasing their potential to improve human health. If these services are to be delivered fairly to populations, there must be much more emphasis on community information, professional education, and service monitoring.

Consanguinity↗
PubMed1990

[The first case of prenatal diagnosis of sickle cell anemia in the USSR].

A married couple with a risk to have a child with sickle-cell anemia has been detected as a result of mass screening of pregnant women in Baku. The prenatal diagnosis was made on the 26th week of pregnancy by means of chordocentesis and biosynthesis of globin chains that revealed the absence of normal beta-globin chain synthesis in the presence of beta S. The diagnosis of sickle-cell anemia was confirmed after abortion in the fetal blood material obtained from the heart by isoelectro-focussing. The family has received a recommendation on the prenatal DNA-diagnosis in the first trimester on the next pregnancy.

Adult↗
PubMed1978

Mitotic cycles in human cell strains with sex chromosomes aneuploidy.

A persistence of the embryonic type of mitotic cycle was found in postnatal strains with aneuploidy of sex chromosomes (45,X; 47,XXX; 49,XXXXX; 47,XYY; 49,XXXXY). Life-span and proliferating activity of the strains did not differ from those of diploid postnatal cells.

Aneuploidy↗
PubMed1977

Monosomy 21 in a human spontaneous abortus. Morphogenetic disturbances and phenotype at the cellular level.

Complex investigation of a spontaneous abortus with monosomy 21 was carried out. Phenotypic expression at the organism and tissue level was characterized by the pathology of the external form of the embryo and by abnormalities of the embryonic facial structures, the stomodeum, the anterior part of the primary gut, and neural tube development. The anomalies found in the embryo indicate primary morphogenetic disturbances arising at the initial stage of organogenesis. Investigation of LHC-431 strain cells derived from musculocutaneous embryonic fragments revealed a complex of cytophenotypic alterations similar to the cellular syndrome of trisomic cells and indicating an insufficient biologic maturity of the mutant cells (alterations of cellular form, disturbances in their contact orientation, underdevelopment of fibrillar apparatus and decreased collagen formation, changes in the accumulation of intracellular metabolic products, decreased growth capacity and alterations of mitotic cycle parameters). It was found that the single chromosome 21 takes part in assocations twice as frequently as would theoretically be expected.

Abortion, Missed↗
PubMed1977

[Mitotic cycles in diploid strains of human fibroblast-like cells].

Determination of parameters of the mitotic cycles in 5 human diploid embryonic strains and in 4 human strains from donor skin biopsies was conducted in termal room (37 degrees C). Diploid strains of postnatal origin have a longer duration both of the whole mitotic cycle (P less than 0.001) and of particular stages G1 (P less than 0.001), G2 (P less than 0.001) (duration of S-phase was not deviated) as well as lower values for the proliferative pool during the whole cultivation to the embryonic diploid strains.

Cell Line↗
PubMed1975

Human triploid cell strain. Phenotype on cellular level.

The complex investigation of the bilogical properties of the triploid cell strain derived from a spontaneous abortus was carried out. Cytomorphological, autoradiographic, cytochemical, biochemical and immunochemical investigation showed that, according to most of the investigated properties, triploid cells did not differ from normal diploid cells. The cells had normal form, were well orientated, revealed expressed fibrillar apparatus and viability in the culture during 15--17 passages. The decrease of the alkaline phosphatase level, increase of acid phosphatase, lactate and malatdehydrogenase and greater nuclei area were the essential differences from the control. The cells had normal mitotic cycle parameters and the antigenic spectrum was practically identical to the normal cells.

Acid Phosphatase↗
PubMed1975

[Cultured human fibroblast enzymes. III. Enzyme activity in a triploid strain].

Complex investigation of 5 enzymes was carried out in a cell strain with triploidy 69, XXY, derived from a human spontaneous abortus. The activity of 3 enzymes (acid phosphatase, lactate and malate dehydrogenases) in triploid cells proved to be significantly increased as compared to those of 3 diploid strains, whereas the activity of alkaline phosphatase was decreased. The activity of glutamate-oxalacetate transaminase did not change. The absence of the pronounced genetic dose effect and different alteration of the activities of the enzymes studied may be considered as an expression of a disbalance of enzymes in cytogenetically defective cells.

Acid Phosphatase↗
PubMed1975

[A complex study of strains of human cells with karyotype anomalies. III. An immunoelectrophoretic analysis of water-soluble antigens].

Antisera to diploid, trisomic and triploid embryonic fibroblast-like cells were obtained after hyperimmunization of rabbits. Immunoelectrophoretic analysis with these antisera revealed up to 9 water-soluble antigens in embryonic cells, which were present in skin fibroblasts from adult donors as well. Trisomic and triploid strains did not differ from the diploid ones by the spectrum of water-soluble antigens. The content of the number of antigens (especially of cathode fractions) in trisomic cells was significantly low as compared with those in control diploid cells, whereas in triploid ones it differed slightly. All the strains were characterized by the presence of proteins immunologically identical to alpha-globulin of human serum.

Aneuploidy↗
PubMed1975

[Enzymes of cultured human fibroblasts. IV. Enzyme activity in trisomy C strains].

The activity of five enzymes (AIP, AcP, GOT, LDH, MDH) was investigated in four cell strains derived from spontaneous abortuses with C-trisomy (three cell strains with trisomy 7, one--with trisomy 9). Significant differences in the activity of three enzymes were revealed. In all the strains AIP activity was lower and GOT activity--higher than in diploid strains. Lowering of AcP level was found in three strains (two cell strains with trisomy 7, one--with trisomy 9). The data obtained are evaluated as a result of disturbed regulatory interrelations in an abnormal genome.

Acid Phosphatase↗
PubMed1975

[Morphological changes in triploidy in human ontogeny].

Cytological and morphological data of 187 spontaneous abortuses, 25 fetuses and infants with triploidy described in literature and 6 proper triploid abortuses were analyzed. It was established that in spite of polymorphism of phenotypical manifestations of triploidy in ontogenesis there are a number of permanent, often combining morphological changes (asymmetry of the body, syndactylism of the III--IV fingers and toes, anomalies in the nervous and genito-urinary system). These features in addition Institute of Medical Genetics, USSR Acad. Med. Sci., and Institute of Obstetrics and Gynecology, Ministry of Health, USSR. To dysplasias present in other chromosomal disorders, allow establishing the syndrom of triploidy in man and to diagnose the disease with great probability. Hydropic and cystose degeneration of the chorion villi met in 85% of cases of triploidy has but external resemblance with true vesicular mole which has normal karyotype. Cytogenetical and morphofunctional differences between them were noted.

Abnormalities, Multiple↗
PubMed1975

[Complex study of human cell strains with karyotype anomalies. II. Mitotic cycle parameters].

The object of this investigation were the parameters of the mitotic cycle in 14 fibroblasts-like cell strains with chromosome aberrations obtained from skin biopsies of patients and from spontaneous human abortuses. In two strains of embryonal origin (trisomic for chromosome and monosomic for chromosome 21) increased duration of stage G2 of the cell cycle accompanied by a shorter period of DNA synthesis was observed. In the other 5 strains of embryonal origin (two strains trisomic for chromosome 7, strains trisomic for chromosome 9, trisomic for chromosome 14 and triploid strains) no deviations from the normal duration of the stages of the cell cycle were observed. Two types of changes of the mitotic cycle parameters were observed in the cell strains obtained from patients with chromosome aberrations. A considerably prolonged G2 stage was observed in two strains obtained from patients affected by Down's syndrome. Three strains with the karyotypes 47, XXX, 47 XY+18 and 46, XX, 5p-were characterized by a complex of features typical of the strains of embryonal origin. A considerable decrease of the stage G2 duration was observed in these strains. In the strains obtained from a proband with Kleinfelter's syndrome and from a patient with the karyotype 46XX no deviations in the parameters of the cell cycle were observed.

Chromosome Aberrations↗