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Biomedical subjects

V I Trubnikov

Publications and source records attributed to V I Trubnikov.

At least 19 recordsLinked to original sources
PubMed1995

[The formation of a collection of DNA from patients with endogenous psychoses and the prospects for its use in molecular genetic research in psychiatry].

A genetic study of psychiatric diseases meets a lot of difficulties because of incomplete penetrance, phenocopies, probable genetic heterogeneity. The progress in exploring of new effective markers and human genome mapping enables one to undertaken a systematic search for alleles confirming susceptibility to manic depressive illness and schizophrenia. It is important therefore to have in one's disposal the collection of DNA samples appropriate for different aspects of molecular genetic study. The collection of DNA samples deposited in National Centre for Mental Health of Russian Academy of Medical Sciences includes DNA of informative small-scaled families and a number of DNA from unrelated subjects with manic-depressive illness, schizophrenia, schizoaffective disorders. This collection may be used for linkage analysis, association and sib-pair studies and for detection of mutations responsible for mental diseases.

Academies and Institutes↗
PubMed1995

[A multivariate genetic analysis of the data from a complex study of the predisposition to schizophrenia].

49 families of schizophrenics (49 probands and their 106 first-degree relatives) were studied by means of psychological methods, EEG and computed tomography. Multivariate genetic analysis were performed to assess genetic and environmental components of parameter phenotypic variance and relations between the parameters and liability to schizophrenia, including formation of discriminant functions for classification of individuals into high risk and normal groups and estimation of the functions heritability. Besides, correlations between parameters of neuromorphological, neurophysiological and psychological levels were calculated. The heritability of most EEG and CT parameters were between 41 and 98%. Among psychological variables only mediated and logic memory seem to be under sufficient genetic control (relatively 62 and 42%). Discriminant functions derived from psychological and EEG parameters, allow to differentiate correctly individuals into high risk and normal groups in 76-88% cases. Results of correlational analysis of psychological and biological variables suggest that there are both system and separate genetically determined abnormalities related to different levels of pathogenesis.

Adult↗
PubMed1995

[Inheritability of personality traits measured by MMPI in families of schizophrenic patients].

The results of genetic and mathematical analysis of MMPI-measured personality traits performed on material obtained 37 families of schizophrenia-afflicted probands were outlined. The results obtained suggest that heritability of traits in schizophrenic families is higher than in the general population. The discriminant function significantly differentiating between schizophrenics' and healthy people's relatives and having high heritability was calculated.

Female↗
PubMed1992

[Clinical and genetic studies of Alzheimer-type dementia].

The families of 128 probands with Alzheimer's disease (AD) and senile dementia (SD) were studied. Genetical and mathematical analyses were employed to estimate the clinico-genealogical findings. The genetic factors were found to be likely to make some contribution to the origin of Alzheimer-type dementia (ATD). The proportion of afflicted relatives considerably exceeded that of the above dementia patients. Two genetic models (monogenic and multifactorial) were tested. The limit estimations of genetic similarity between AD and SD manifestations both in the monogenic and multifactorial models denied the fact that there is a common major gene responsible for liability to Alzheimer-type dementias. The common gene modifiers were assumed to exist in AD and SD. In addition to the differences found between the types of inheritance in patients with these disease, the following features are: an oligogenic type of inheritance in SD and a quasi-dominant one with incomplete manifestations of homo- and heterozygotes in AD. Studies into the clinical polymorphism of Alzheimer-type dementias in hereditary cases enabled the authors to establish the genetically determined signs and the environmentally induced signs. The predisposing features (premorbid characteristic traits and specific features of mnemic and intelligence) were identified, which allowed the development of Alzheimer-type dementias to be predicted in 80% of women from hereditarily aggravated families.

Aged↗
PubMed1990

[Comparative clinico-genetic studies of senile dementia and Alzheimer's disease].

The families of 128 probands with senile dementia (SD) and Alzheimer's disease (AD) were entered into the study. The correlation between the familial and sporadic cases of the disease was established. A geneticomathematic analysis was employed to estimate the clinicogenealogical findings. Two genetic models (monogenous and multifactorial) were tested. The contribution of the genetic factors to SD and AD liability was assessed. As a result of a comparative clinicogenetic study of SD and AD it was found that there is no doubt about the contribution made by the genetic factors to the origin of the Alzheimer type dementia (ATD). The rate of the afflicted relatives considerably exceeded the population rates of the investigated patterns of dementia. The limit estimations of the genetic similarity between the manifestations of AD and SD, both in the monogenous and multifactorial models, were obtained, which rejects the presence of the common major gene responsible for liability to these patterns of the ATD. It was assumed that AD and SD are characterized by the presence of the common genes modifiers. In addition, the difference was established between the types of inheritance in persons afflicted with these diseases: an oligogenic type of inheritance in SD, a quasidominant type with incomplete penetrance of homo- and heterozygotes in AD.

Adult↗
PubMed1990

[Analysis of genotoxic effects of individual factors on chemical industry workers].

The article provides data on the study of occupational and non-occupational factors relating to the prevalence of early spontaneous abortions in couples engaged in fertilizer production. A higher degree prevalence of early spontaneous abortions was detected in several groups affected by specific factors. As this degree of prevalence was found in the groups in which it was only the father that had been exposed to the specific hazardous factors, it was considered that the factors in question either hindered the mutagen tolerance or were capable of their own germ cell mutagen action. It was established that lowered mutagen tolerance related to early abortions was markedly higher in groups exposed to organic substances' compounds and industrial noise.

Abortion, Spontaneous↗
PubMed1990

[Clinical characteristics of familial and sporadic forms of Alzheimer's disease].

Twenty-one cases of familial hereditary Alzheimer's disease and 17 sporadic cases were under observation. The probands' clinical status was assessed during a number of years in accordance with the standard method (based on a unified map). The clinical parameters (dementia structure, intensity of neurologic disorders, and so forth) were correlated at the identical disease stages. The differences in the character of the initial disease manifestations and the tempo of its progression as well as definite differences in the dementia structure at the pronounced stage and in the final stage allowed a conclusion about the ++clinico-genetic heterogeneity of the hereditary and sporadic cases of Alzheimer's disease.

Adult↗
PubMed1990

[Role of genetic and environmental factors in the determination of body weight and skinfold thickness in children having different blood pressure (a familial study)].

Based on intrafamilial correlations, a component genetic analysis was used to evaluate the contribution made by genetic and environmental factors to variance in body weight and skin fold thickness in children who had various blood pressure. In children with initially elevated and normal blood pressures, the phenotypic variation in the body weight and adipopexia is largely determined by genetic factors, whereas in those with initially lower blood pressure, the phenotypic variation in the above parameters is greatly affected by environmental factors, mainly by those of occasional nature. The findings provide evidence for a differential approach to the primary prevention of hyper- and hypotension in children and adolescents.

Adolescent↗
PubMed1989

[Genetic classification of clinical forms of childhood schizophrenia].

In an analysis of 225 families of probands with different forms of the course of children's schizophrenia, a hypothesis on the degree of their genetical similarity (or dissimilarity) was tested. Malignant and slow progredient form of children schizophrenia showed major genetical similarity (correlation coefficient 1.0) with the recurrent schizophrenia occupying a separate position having no common genetical predisposition factors with nuclear forms of schizophrenia. Paroxysmal progredient schizophrenia displayed a distinct genetical relation to any other form (genetical correlation coefficient ranging in 0.5-0.7).

Adolescent↗
PubMed1989

[Role of genetic and environmental factors in determination of arterial blood pressure level].

Three groups of families with different initial levels of arterial pressure in proband children were examined. The relationship was established between the levels of arterial pressure in children and those in their relatives of the first degree of kinship. Based on intrafamilial correlations, the phenotypic dispersion of systolic and diastolic arterial pressure was analyzed. It has been shown that as compared to the genetic factors, the environmental factors play a greater role in arterial pressure variability.

Adolescent↗
PubMed1989

[Heritability of clinical forms of childhood schizophrenia].

Investigated and genetically analyzed were inheritance variants in 225 families of probands with different forms of development of child schizophrenia and 519 blood relatives as well as in 1714 relatives of the 2nd and 3rd grades. Child schizophrenia as seen from the viewpoint of the monogenic model of inheritance with total or partial penetrance of the "major" gene proved inconsistent with the characteristics of family history and population distributions in the disease. The multifactorial model appeared the most adequate to describe the susceptibility system. In the framework of this model the correlation between the susceptibility components specific for a clinical form could be derived from distinguishing between genotypic and environmental components. The data indicate that in malignant and slow progredient schizophrenia the probands were genotypically similar to a greater extent that they were in paroxysmal-progredient form, as revealed by the inheritance coefficient of the former group (28-35%) which was lower than that of the latter group (64%).

Adolescent↗
PubMed1988

[The genetics of breast cancer, population and familial research and segregation analysis].

The data on clinico-genealogy studies of 1046 probands with breast cancer and their relatives are presented. The nature of inheritance corresponded to the Mendelian model. As to other families, there is no strong evidence for the monogene model both with complete and incomplete penetrance of mutant homo- and heterozygotes. Penetrance of homozygotes was 7.9-30.5%, this being 2.0-7.3% for heterozygotes. The conclusion is drawn that it is necessary to consider the regularities of inheritance of breast cancer in the light of the multifactorial model.

Adult↗
PubMed1988

[The genetics of breast cancer. A genetic dispersion analysis and the genetic heterogeneity of breast cancer].

The multifactorial nature of breast cancer was established based on population and family study, the contribution of genetic factors being 52% (premenopausal--62 and postmenopausal--39%). Genetic heterogeneity of different coefficients of inheritance of breast cancer with the portion of common genes was shown to be 53%. The analysis of breast cancer interaction with other malignant neoplasms revealed that the development of other malignant neoplasms was the result of the influence of partially common genes. On the basis of data obtained in this study, the tables of repeated risk for the relatives have been worked out which may be used for medico-genetic consultations.

Breast Neoplasms↗
PubMed1987

[Correlations between endogenous and exogenous factors in the development of childhood schizophrenia].

The authors have examined 225 probands with childhood schizophrenia aged 4-14 yrs and their 519 first-degree relatives; 14.8% of the relatives (13.6% parents and 21.8% sibs) suffered from schizophrenia. An attempt is made to define the contribution of the genetic and environmental factors to the development of different clinical forms of childhood schizophrenia. The age when the disease manifests appears to depend on environmental factors. In all forms of schizophrenia (excluding slow progressive schizophrenia) the progressive development of the disease is associated with the impacts of exogenous factors. In the development of slow progressive schizophrenia the genetic factors play an important role.

Adolescent↗