[The origin of an extra chromosome 21 in families of children with Down syndrome]. / Izuchenie proiskhozhdeniia dopolnitel'noi khromosomy 21 v sem'iakh detei s bolezn'iu Dauna.

These are the first studies on the origin of nondisjunction of trisomy 21 in the USSR. Parental contribution was established in 84 of 140 families observed. In 66% cases the nondisjunction took place in oogenesis and in 34% cases - in spermatogenesis. Among the children, who inherited the additional chromosome from father, boys predominate. Compilative work on all the data available concerning the origin of the 21 nondisjunction has been performed; the factors favouring nondisjunction in I and II mitotic divisions in female meiosis, both genetical and age-dependent, have been considered. The great importance of the disturbances taking place in spermatogenesis for etiology is emphasized. It is proved that somatic hyperploidy does not serve as an indicator of predisposition for chromosome nondisjunction in meiosis.

[Increase in the incidence and risk of birth of children with Down's syndrome in Leningrad (1982-1989)]. / Uvelichenie chastoty i riska rozhdeniia detei s bolezn'iu Dauna v Leningrade (1982-1989).

Among 559,286 infants born in Leningrad in 1982-1989, there was revealed 744 infants (1.33/1000) with Down's syndrome (DS). The age distribution for their mothers as well as for 79,571 parturient women in the general population was investigated. The data regarding the period studied was compared with the results of a similar investigation conducted during of 1945-1961. A decrease in maternal age in the population was demonstrated. This was more pronounced for the mothers of affected infants. A 1.4- to 2.2-fold increase of birth risks for DS was found in all maternal age groups. The doubling of the risk value occurred by the age of 30-34, in contrast to 35-39 in 1945-1961.

[Uridine incorporation into the RNA of stimulated lymphocytes with different sets of sex chromosomes]. / Vkliuchenie uridina v RNK stimulirovannykh limfotsitov s razlichnym naborom polovykh khromosom.

Phytohemagglutinin (PHA)-induced stimulation of uridine incorporation into RNA was studied with cotton-wool isolated peripheral blood human lymphocytes. The amount of labeling in 24-hour cultures proved to be increased in men and in 45,XO patients, compared to women. With high doses of PHA applied, hyperreactivity of the 45, XO cells was revealed. PHA-activation in normal persons tends to decrease with advancing age. Complex genomic as well as sex hormone effects may be responsible for the differences observed.

[Comparative characteristics of phenotypes in numerical anomalies of human X-chromosomes (morphologic and psychological features)]. / Sravnitel'naia kharakteristika fenotipov pri chislovykh anomaliiakh X-khromosomy cheloveka (morfologicheskie i psikhologicheskie osobennosti)

On the basis of data on antropological and psychological investigation of 30 XXY males, 30 X0 females and 10 XXX females comparative characteristics of phenotypes of patients are given. The persons with X monosomy (the absence X- or Y-chromosomes) are observed to have decreased total sizes of body, to retain the ability to compensate congenital mental defects, to use standard methods of the adaptation to social environment and to assimilate standard norms of social behaviour. The persons with trisomies XXY and XXX (the presence of the additional heterochromatic X-chromosome) have the tendency to an increase of the longitudinal body sizes independently on sex; they have a delayed development of mental functions and reduced possibilities to compensation of these functions; they also have different degrees of disorganization of the social behaviour and the disadaptation to social environment. It is found that the patients with numerical anomalies of human X-chromosome (both the lack and the excess of chromosome material) have a disturbance of development of the sex dimorphism and sex dipsychism.

[Current status of the problem of the treatment and prevention of hereditary diseases]. / Sovremennoe sostoianie problemy lecheniia i profilaktiki nasledstvennykh boleznei.

The author demonstrates the development of S. N. Davidenkov's concepts concerning the problem of treating and preventing hereditary diseases in modern genetics. The results of research work carried out by the author and her colleagues are presented. A new direction in the treatment of hereditary diseases, that is, targeted delivery of microincapsulated macromolecules (enzymes) to the cells, as an alternative to enzymotherapy, is described, and the results attained in this field are presented. Prospects of the new direction are demonstrated. Problems of prophylaxis and, particularly, prenatal diagnosis of hereditary diseases are described.

[Blood lipids and lipid peroxides in the families of patients with ischemic heart disease]. / Lipidy i lipoperoksidy krovi v se'miakh bo'lnykh ishemicheskoi bolez'niu serdtsa.

Levels of some fractions of blood neutral lipids and lipoperoxides were compared in the families of patients with coronary heart disease. The patients and their relatives (including healthy ones) were found to show a statistically significant increase in the atherogenic index, total cholesterol, low density lipoprotein cholesterol, triglyceride, total lipid, and lipoperoxide concentrations and a decrease in high density lipoprotein cholesterol levels as against controls. The changes in the values of lipids and lipoperoxides in the families of patients with coronary heart disease were homogenous and might be one of the pathogenetic links in the formation of hereditary predisposition to atherosclerotic cardiovascular diseases which might be detected in a prehospital period.

[Possible disorder of tissue immunity function in mothers who have given birth to a child with Down's disease]. / O vozmozhnom narushenii funktsii tkanevogo immuniteta u materei, rodivshikh rebenka s bolezn'iu Dauna.

The rates of DNA synthesis were studied in PHA-stimulated lymphocytes from the peripheral blood of mothers giving birth to a child with Down's disease. For control purposes a group of donors of the same age and sex were studied as wells. A decrease of 3H-thymidine incorporation was detected in the lymphocytes of the mothers of such children. The found differences were due to a drop of lymphocyte PH-reactivity in the older maternal age group (over 30 years). Interrelation between the changed function of the maternal immune system and the birth of children with chromosome unbalance are discussed.

[Various aspects of blood platelet function of patients who have sustained an ischemic stroke or myocardial infarct and of their relatives]. / Nekotorye osobennosti funktsional'nogo sostoianiia trombotsitov krovi u bol'nykh, perenesshikh ishemicheskii insul't ili infarkt miokarda, i u ikh rodstvennikov.

The authors examined the functional properties of platelets (adhesion, serotonin content and its absorption by the cells) in patients with atherosclerosis who had suffered an ischemic stroke or myocardial infarction, as well as in their relatives and in healthy subjects (control). All the patients were comparable as to the age. In the atherosclerotic patients distinct disturbances of the platelet functional properties were revealed. These disturbances consisted in an increase of the adhesive-aggregation activity of the platelets and a lowering of the serotonin absorption by them. Similar disturbances were revealed in the relatives of the atherosclerotic patients including those who were phenotypically healthy. The data obtained made it possible to conclude that the above disturbances of platelet function were, probably, genetically predetermined, and created an inclination to thrombogenic processes in persons with aggravated heredity as regards atherosclerosis.

[Serotonin concentration and transport in the blood platelets of ischemic stroke patients and their relatives]. / O soderzhanii serotonina i ego transporte v trombotsitakh krovi bol'nykh s ishemicheskim insul'tom i ikh rodstvennikov.

Serotonin levels and transport were studied in patients with ischemic stroke (n = 31), their relatives (n = 50) and clinically healthy subjects (n = 45). A statistically significant difference was found in the absorption of exogenic serotonin in the patients and relatives. It has been shown that if judged by serotonin levels, the distribution curves in the control subjects patients with ischemic stroke and their relatives correspond to a model of the polygenic type of the heredity of the traits studied.

[Irregularities in the lipid composition of muscle tissue in Duchenne's myodystrophy]. / Narusheniia lipidnogo sostava myshechnoi tkani u bol'nykh miodistrofiei Diushenna

A study is made of the phospholipid content, glycerides and cholesterine in the muscular tissue of 20 patients with Duchene's myodystrophy. It was established that there is an increase in the relative content of sphingomyelin and a drop in phosphatidilcholine. The study shows an increase of glycerides and cholesterine per gm, of raw weight and in the content of the noncollagen protein.

[Indicators of lipid metabolism and the blood lipid peroxidation system in men with regard to hereditary predisposition to atherosclerotic vascular pathology]. / Pokazateli lipidnogo obmena i sistemy perekisnogo okisleniia lipidov krovi u muzhchin s uchetom nasledstvennoi predraspolozhennosti k ateroskleroticheskoi sosudistoi patologii.

Lipid metabolism and the blood lipid peroxidation system were examined in 56 military males living in rather similar conditions. The parameters in question were compared in the following groups: (1) control subjects, including healthy individuals without a family history of atherosclerotic vascular abnormalities; (2) healthy subjects with a family history of atherosclerosis; (3) patients with coronary heart diseases. There were significant differences only in single cases between the groups. The application of a system of grids setting upright the distribution curves for the parameters under study proved to be effective in finding significant differences between the groups, showing the value of the hereditary factors in the development of atherogenic lipid changes.

[Comparative organ distribution of various sizes of liposomes during their intravenous administration]. / Sravnitel'noe raspredelenie po organam liposom razlichnoi velichiny pri ikh vnutrivennom vvedenii.

Distribution after intravenous administration of unilamellar--0.025-0.030 micron, multilamellar--0.05-2.0 micron and large oligolayer--0.2-0.5 micron liposomes, 99mTc labelled in the lipid phase, was studied in mice tissues. Distinct correlation between clearance of the liposomes from circulation and the vesicles size was found. Large oligolayer liposomes were stored in spleen tissue 3-4 fold more effectively as compared with uni- and multilamellar liposomes; accumulation of the vesicles in spleen tissue depended also on concentration of the microemulsion administered.

[Enhanced capture by tumor cells of liposomes prepared from autologous phospholipids]. / Povyshennyi zakhvat opukholevymi kletkami liposom, prigotovlennykh iz autologichnykh fosfolipidov.

The trapping of liposomes from native phospholipids by tumor cells was found to be 2-6 times that of egg lecithin vesicles. These differences in the level of incorporation of the two types of liposomes in the course of incubation with ascitic lymphocytic leukemia cells NKLy/LL seem to be due to the different mechanisms of their utilization. Egg lecithin liposomes are trapped via endocytosis which is not highly pronounced in these cells, whereas vesicles from target-cell phospholipids are incorporated by fusion mechanism.

[Myeloperoxidase of neutrophils and its possible role in lipid peroxidation processes in arteriosclerosis]. / Mieloperoksidaza neitrofilov krovi i ee vozmozhnoe uchastie v protsessakh perekisnogo okisleniia lipidov pri ateroskleroze.

Activity of blood plasma myeloperoxidase (MPO) of neutrophil leucocytes and acetyl hydroperoxides was studied in families of atherosclerosis patients. The neutrophil MPO activity was decreased and the blood plasma content of acetyl hydroperoxides was increased in subjects with hereditary predisposition to atherosclerosis. The role of MPO and its possible pathogenetic action as a generator of the active forms of oxygen in atherosclerosis and its complications has been discussed.

[Indicators of lipid peroxidation in the blood in hereditary predisposition to arteriosclerosis]. / Pokazateli perekisnogo okisleniia lipidov krovi pri nasledstvennom predraspolozhenii k aterosklerozu.

In members of the families whose parents had atherosclerosis complicated by macrofocal myocardial infarction or stroke, the serum level of lipid peroxidation products was correlated to enzymatic activity of neutrophil and red blood cells oxidation-antioxidation. In persons with hereditary predisposition to atherosclerosis both with clinical signs of atherosclerosis and phenotypically healthy against the control group there was elevated content of plasma acylhydroperoxides and hypoactivity of neutrophil myeloperoxidase. Determination of lipid peroxidation products by malonic dealdehyde showed this parameter to be higher in members of the families of the study group and in those with cardiovascular disorders. For those whose parents had atherosclerosis versus control subjects there were no differences in the activity of superoxide dismutase, glutation peroxidase and catalase in the blood red cells. Shifts in lipid peroxidation and activity of blood myeloperoxidase are identical in type and may represent a pathogenetic ling in formation of hereditary predisposition to cardiovascular disorders of atherosclerotic origin, the detection of which becomes feasible in a subclinical period.

[Indicators of lipid metabolism and lipid peroxidation system in patients with different types of lesions of the vessels of the lower limbs]. / Pokazateli lipidnogo obmena i sistemy perekisnogo okisleniia lipidov u lits s razlichnymi tipami porazhenii sosudov nizhnikh konechnostei.

A total of 66 patients were investigated with IR imager and television capillaroscopy for the blood circulation in the vessels of low extremities as well as for the values of lipid metabolism and the system of lipid peroxidation. According to the status of the vascular system in the low extremities the examinees were divided into the groups with the normal status of the vascular system, the groups with the signs of venous insufficiency, microcirculatory disorders and atherosclerosis of major vessels. With the disorders of microcirculation in low extremities staged increments in the atherogenic shifts in the exchange were demonstrated. It was suggested that atherosclerotic changes in the arteries could be preceded with the hemodynamic changes in the venous and capillary systems due to rheological disorders due to the development of hypercoagulation which accompanied dyslipoproteinemias and other atherogenic shifts in the metabolism.