[Influence of a genetic component on the propensity of dust-exposed workers to visceropathies (on the pattern of detecting polymorphisms in the transmembrane conductance regulatory protein CFTR gene)].

Obtained results of molecular genetics testing of workers' groups exposed to dust show the elimination of carriers of defective variants in the CFTR gene among workers exposed to dust. We can establish a fact that in spite of law frequency of detected major mutations of the CFTR gene in explored selections they have big importance as individual factors in the stage of preliminary medical examinations in terms of prediction of possible occupational development risk and progression of productionally mediated visceropathies and diseases, as well as a conscious choice of occupation by an individual.

[Risk factors of gastropathy development in workers exposed to dust].

Systemic leucocyte-induced oxidative stress in prolonged occupational exposure to dust modifies oxidative metabolism of neutrophils and RBC, causes inflammatory and destructive, autoimmune processes in gastric lining and possible subsequent occupational gastropathies. To verify gastropathies caused by technogenic dust aerosols, search of preclinical biologic markers of gastric lining damage is essential. The article presents main steps in occupational gastropathies formation, trigger mechanisms, leading pathogenetic factors of gastric lining damage and of atrophic fundus gastritis. Using the mentioned complex of biomarkers in gastric lining state monitoring among workers at periodic and thorough medical examination is main item in forecasting individual risk of occupational gastropathies and in possible approach to their prevention and treatment.

[Importance of molecular genetic markers for evaluating individual risk of visceropathies in workers exposed to dust].

The authors present results of evaluating molecular genetic markers to estimate individual risk and forecast visceropathies development in workers exposed to high concentrations of industrial dust aerosols.

[Mutation in the structure of exon 7 of the phenylalanine hydroxylase in phenylketonuria patients from the Novosibirsk area]. / Mutatsii v strukture ékzona 7 gena fenilalaningidroksilazy u bol'nykh fenilketonuriei Novosibirskoi oblasti.

The spectrum and frequency of mutations of exon 7 of the gene for phenylalanine hydroxylase (PAH) were studied in 34 phenylketonuria (PKU) patients living in Novosibirsk oblast. The five most prevalent mutations constituted 17.64% of defective alleles: R243Q (1.47%), R252W (1.47%), R261Q (5.88%), E280K (1.47%), and P281L (7.35%). A neutral polymorphic locus V245V was found within exon 7.

[Vegetovascular dysfunction as an integral parameter of high risk for cardiovascular diseases development in young subjects]. / Sindrom vegetososudistoi disfunktsii kak integral'nyi pokazatel' vysokogo riska razvitiia serdechno-sosudistykh zabolevanii u lits molodogo vozrasta s otiagoshchennoi nasledstvennost'iu.

AIM: To study manifestations of vegetative dystonia in children of probands from families with hereditary IHD load regarding the main risk factors. MATERIALS AND METHODS: 44 individuals aged 21 +/- 0.7 years were selected out of 111 children from 103 examined families the fathers of which had transmural or macrofocal myocardial infarction at the age under 50. 22 of 44 examinees had syndrome of vegetovascular dystonia (VVD). RESULTS: Children of probands with family history of cardiovascular disease and having VVD had levels of cholesterol, triglycerides and apoB higher, but HDLP cholesterol lower than those free of VVD. In daughters of the probands insulin and hydrocortisone levels were high whereas sons with VVD had only insulin levels higher. CONCLUSION: Children of probands of both sexes had high coefficients of hormonal and metabolic adaptation dependent on the severity of VVD syndrome.

[Analysis of the distribution of alleles of a tetranucleotide repeat in intron 6 of the lipoprotein lipase gene among residents of Novosibirsk]. / Analiz raspredeleniia allelei tetranukleotidnogo povtora v introne 6 ggena lipoproteinlipazy sredi naseleniia g. Novosibirska.

The allele frequencies of a tetranucleotide repeat in intron 6 of the lipoprotein lipase gene (humLPL) were analyzed in 95 people from Novosibirsk. Genotype frequencies were shown to conform to the Hardy-Weinberg equilibrium. The allele frequency distribution of the tested hypervariable loci in the Novosibirsk population did not differ significantly from that in the Austrian population.

[The characteristics of the blood lipid composition in northern Selkups and in the immigrant population of northern Siberia and the problems of miscegenation]. / Osobennosti lipidnogo sostava krovi severnykh sel'kupov, prishlogo naseleniia Severa Sibiri i problemy metisatsii.

Blood lipid composition was studied in 507 Selkups, native population of Tyumen Province (199 males and 308 females), 245 Slavs living in the north for more than 5 years (97 males and 148 females), 189 first generation métis born in mixed marriages (68 males and 121 females). Three age groups were analyzed: 10-19 (group 1), 20-39 (group 2), 40-59 (group 3). Male métis from groups 1, 2 and 3 had the highest levels of HDLP cholesterol, the lowest of apoB and atherogenic index. Group 2 métis were in the intermediate position between Slavs and Selkups by concentrations of total and LDLP cholesterol and triglycerides. Group 3 métis males had the lowest levels of triglycerides and intermediate levels of total and LDLP cholesterol. Group 1 and 2 métis females had the highest levels of LDLP, the lowest of apoB and low atherogenic index. In group 3, levels of total cholesterol, LDLP cholesterol, apoB and atherogenic index were as high as in non-aboriginal Slavonic population.

Relationships between left hemisphere predominance and disturbances of lipid metabolism in different ethnic groups.

The purpose of this study was to analyze the relationships between brain hemisphere predominance and disturbance of lipid metabolism in atherosclerosis in different ethnic groups. Three groups of subjects were examined: 52 healthy Selkups (the isolated ethnic population of the Far North), 50 healthy Russian men, living in Novosibirsk, and 78 Russian men, living in Novosibirsk, who had myocardial infarction before the age of 50. Blood cholesterol, low density lypoprotein (LDL) and high density lypoprotein (HDL) levels of the subjects with different brain functional asymmetry were compared. The lack of either hemisphere predominance is the most common among the Selkups. The population of Selkups as a whole showed low concentrations of cholesterol and LDL in comparison with both Russian groups. For all examined groups the pattern of lipid metabolism has been worsened for the subjects showing the left hemisphere predominance. The changes of lipid metabolism indices in subjects with the dominant left hemisphere is discussed.

[The characteristics of the lipid-hormonal interrelations in young men with a history of myocardial infarct (based on family registry data in Novosibirsk and Bishkek)]. / Osobennosti lipidno-gormonal'nykh vzaimosviazei u molodykh muzhchin, perenesshikh infarkt miokarda (po materialam semeinykh registrov v Novosibirske i Bishkeke).

Altogether 226 male probands who suffered large-focal or transmural myocardial infarction (MI) before reaching 50 years were examined in Novosibirsk and Bishkek in one stage according to the unified program. In Novosibirsk all the probands were Russians whereas in Bishkek 75 probands were Kirghizs and 71 were Russians. The probands were examined within a period of 1 to 3 years after MI. The lipid and lipoprotein plasma content was determined by standardized methods on a Tekhnikon AAP autoanalyzer. The content of thyroid hormones, insulin and cortisol was measured by means of RIA-kits and that of apolipoprotein B (ApoB) by radial immunodiffusion. It turned out that the patients from Novosibirsk demonstrated the highest content of cholesterol, low density lipoprotein cholesterol, the highest index of atherogenicity, the highest concentration of ApoB, and hyperinsulinemia. In the probands of both nationalities from Bishkek, the lipid spectrum did not differ substantially from the populational norm, the content of ApoB in the Russian probands was slightly lower than in those from Novosibirsk whereas in Kirghizs, the least content of thyroxin was recorded.

[The characteristics of the blood serum lipid composition in northern Selkups]. / Osobennosti lipidnogo sostava syvorotki krovi u severnykh sel'kupov.

A representative sample of native Selkup population (161 males and 237 females) aged 20-69 from the Tyumen region of the Russian Federation was examined for blood lipids using standard techniques. Measurement of mean cholesterol in males and females showed it to be 181.2 +/- 9.4 mg/dl and 188.2 +/- 8.5 mg/dl, respectively, that of low-density lipoproteins, high-density lipoproteins made up 112.0 +/- 9.7 mg/dl and 50.3 +/- 3.9 mg/dl for males and 118.4 +/- 9.0 mg/dl, 51.7 +/- 3.4 mg/dl, for females, respectively. Mean triglycerides concentration amounted to 86.1 +/- 7.0 in males against 87.4 +/- 6.7 mg/dl in females. Overall atherogenic index averaged 2.9 +/- 0.3. The findings evidence that northern Selkups (both males and females) have much lower content of blood cholesterol and low-density lipoprotein cholesterol than control populations from Novosibirsk and Moscow.

[The prevalence of the main risk factors among probands who have had a myocardial infarct at a young age and among their relatives (based on family registry data in Bishkek and Novosibirsk)]. / Rasprostranennost' osnovnykh faktorov riska sredi probandov, perenesshikh infarkt miokarda v molodom vozraste, i ikh rodstvennikov (po materialam semeinykh registrov v Bishkeke i Novosibirske).

Macrofocal or transmural myocardial infarction at the age under 50 in probands served the criterion for selection of 136 families in Bishkek and Novosibirsk (66 Kirghiz and 70 Russian families, respectively). Main risk factors in probands and their families were determined according to WHO methodological recommendations. Essential hypertension was more prevalent in probands and their families in Bishkek, while hypercholesterolemia was more common in Novosibirsk families. Smoking was documented in Bishkek and Novosibirsk probands in equal proportions, though there were more smokers among probands' sons in Bishkek. Overweight occurred with equal frequency in probands' wives and daughters in both cities, but in probands and their sons in Novosibirsk this risk factor appeared more prevalent. Novosibirsk cases of reduced levels of high-density lipoproteins cholesterol and triiodothyronine, elevated concentrations of apolipoprotein B and immunoreactive insulin outnumbered those in Bishkek.

[Restriction fragment length polymorphism of the apolipoprotein A-I gene among inhabitants of Novosibirsk]. / Polimorfizm dlin restriktsionnykh fragmentov gena apolipoproteina A-I sredi zhitelei g. Novosibirska.

Restriction fragments' length polymorphism in the region of apolipoprotein A-I (apo A-I) gene was investigated in Novosibirsk (Siberia, USSR) population. Correlation between PstI apo A-I alleles (2,2 kb-P1; 3,3 kb-P2) and total cholesterol, triglycerides, high density polyproteins cholesterol, and apolipoprotein A-I level was analysed. A tendency to increase in cholesterol index of atherogenicity and to decrease in high density lipoproteins cholesterol as well as apolipoprotein A-I level was shown to occur for P1P2 genotype patients.

[Characteristics of lipid-hormone relations in the families of probands with early development of myocardial infarction]. / Osobennosti lipidno-gormonal'nykh vzaimosviazei v sem'iakh probandov s rannim razvitiem infarkta miokarda.

163 subjects from families whose probands developed myocardial infarction under the age of 50 were examined for plasma levels of total cholesterol, HDLP cholesterol, triglycerides, T3, T4, immunoreactive insulin (IRI) and cortisol. Four family groups were selected: probands (58), wives (41), sons (33), daughters (31). Lipid composition was investigated by standard techniques on Technicon AAP, a hormonal spectrum--by RIA using Soviet kits. It was established that alpha-cholesterolemia in the families was a common finding. Probands and their families combine reduced plasma T3 levels with high incidence of atherogenic dyslipoproteinemia (ADLPE). Probands and their sons had hyperinsulinemia resultant in more frequent AFLPE while in probands' wives and daughters higher IRI levels brought about opposite results.