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Biomedical subjects

M S Ritsner

Publications and source records attributed to M S Ritsner.

At least 37 records · Page 2Linked to original sources

[Estimate of the penetrance of genotypes in a monolocus model taking into account environmental factors].

Based on ITO matrices, a method for parameter estimation of the monolocus diallele model (MDM) of qualitative trait is described, taking account of non-genetic (environmental) factors. The model parameters, probabilities of relatives' affection, constructing the likelihood function and testing hypotheses of the effect of environmental factors on the penetrations of MDM genotypes are outlined. Examples are given, concerning estimation of epilepsy MDM parameters, taking account of two factors-harmfulness of antenatal ontogenesis period and harmfulness which provokes paroxysms.

Alleles↗

[Extraction of an informative cluster of factors for identification of patients with neuropsychiatric diseases].

On the basis of a blanket examination of employees at a large industrial enterprise which revealed 743 patients with neuropsychic diseases, predominantly of a borderline nature, and of 273 mentally normal subjects the authors, using the algorithm of image recognition identified an informative aggregation of factors determining the status of mental health. In the total sample the authors received 85.5% of correct, 13.8% of erroneous, and 0.7% of unrecognized solutions. The authors also discuss signs considered as risk factors and as factors of resistance in relation to the development of neuropsychic abnormalities. The utilization of the results obtained may be promising in conducting the preliminary automatic screening of the population with the purpose of identifying groups at a risk of developing neuropsychic disturbances.

Algorithms↗

[Relation between the clinical polymorphism of epilepsy and the circadian rhythm of seizures (according to the results of a genetic-epidemiologic study)].

The authors compare the factors, parameters and typology of the clinical polymorphism of epilepsy in two groups of patients from an epidemiological sample: 265 patients with a synchronous and 251 patients with an asynchronous circadian pattern of attacks. It has been found that the asynchronous circadian pattern of attacks significantly correlated with a belated psychomotor development, hyperexcitability premorbid characteristics, convulsive manifestations of the disease, marked changes in the personality, the progressive type of the disease course and a number of other unfavourable signs.

Circadian Rhythm↗

[Genetic dispersion analysis of the relationship of epilepsy to anomalies in brain bioelectrical activity].

Estimation of genetic and environmental components of phenotypical dispersion of paroxysmal and nonparoxysmal EEG abnormalities in epilepsy (118 probands and 179 relatives) in two phenotypical model frames has been obtained. The alternative phenotypical model was shown to be more adequate than quasicontinual for EEG abnormalities, and the part of additive genetic component (GA) comprises 15.7% for paroxysmal abnormalities and 49.4% for nonparoxysmal type. In the component type "belonging to one generation" joint influence of genetic and environmental factors on the process of forming EEG abnormalities in ontogeny was observed. The GA value for "epilepsy manifestation" symptom equal to 72.9% in general selection of probands increases to 97.4% in the subgroup of patients with nonparoxysmal abnormalities and 67.4% in the subgroup of patients with paroxysmal EEG abnormalities. It has been suggested that paroxysmal EEG abnormalities reflect their own epileptic process, and as far as nonparoxysmal abnormalities are concerned, they present phenotypical manifestation of the genetic system of predisposition to epilepsy.

Adolescent↗

[Comparative analysis of the proportion of genetic and environmental factors in the development of epilepsy].

With the help of genetic-dispersion analysis the authors studied a series of phenotypes, using both their own familial records (232 families, 5060 relatives of the I-III degree of kinship) as well as those of other researchers (570 families, 18415 relatives of the I-III degree of kinship). The results have shown that the contribution of the genetic and environmental factors to the determination of epilepsy constitutes 5% and 95% in the alternative phenotype model and 65% and 35% in the quasi-continuous phenotype model, respectively. The degree of the genetic factors involvement in the development of phenotypes of "genuine" and "centroencephalic" epilepsy increases irrespective of the phenotype model. The authors also present their outlook on further developments of the genetic dispersion analysis in the research of multifactorial mental diseases.

Adolescent↗

[Genetic analysis of the susceptibility to neurological manifestations in spinal osteochondrosis].

Complex genetic-mathematical analysis (component decomposition of the phenotype variance, segregation analysis, estimation of penetrance parameters) of 324 probands' families with neurologic manifestation of spinal osteochondrosis (3437 relatives of I-III degree) has been carried out is shown that the structure of liability to the disease studied is better approximated by semi-continuous phenotype model within the limits of which contribution of genetic factors reaches 80% (63-66% owing to autosomes and 14-17% owing to gonosomes) under considerable influence (20%) of environmental force (14% accidental and 6% systematic).

Age Factors↗

[Analysis of the distribution of ABO system blood groups among patients with spinal osteochondrosis syndromes].

The paper contains a comparative analysis of the distribution of the blood groups of the ABO system in 1731 patients with syndromes of spinal osteochondrosis and in 9013 representatives of the population. Besides the frequency indices the authors studied as well the index of a relative morbidity A/O the "racial-biochemical" Hirshfeld index and the relationship of the frequency of group 0 to the sum of frequency in the A, B, AB group. It was demonstrated that there was a significant drop in patients with spinal osteochondrosis of the frequency of the 0 group and an increase of the group A. These deviations demonstrate a correlation with the sex, age by the onset, localization of the process longitudinally to the spine and hereditary loading (cases of repeated cases in the family). The revealed regularities may be considered as evidence of the influence of the genotype on the development of spinal osteochondrosis as well as one of the mechanisms determining the immune response in this disease.

ABO Blood-Group System↗

[Table of predicting the outcome of neurologic syndromes of lumbar osteochondrosis].

Using the algorhythm of a successional statistical Wald procedure, the author elaborated a table for the assessment of the probability of a transition of an exacerbation into remission on the 20th day. The table was tested in the studied group (87 patients) and in control series (94 patients). In a 5% level of permissible error, with the aid of the table a correct prognostical evaluation was attained in 70.5% of the conclusions, incorrect ones in 7.9% and indefinite in 21.0%. Incorrect and indefinite responses prevailed in cases of sclerotomic and radicle lumbo ischalgia. The table is intended for selection of a more severe group, the treatment of which from the beginning of an exacerbation is expedient to conduct in a neurological ward.

Adult↗

[Characteristics of tyrosine balance and oxidation in oligophrenia of different origin].

The author conducted a study of the tyrosine balance and the urine excretion of its metabolites: paraoxyphenylpyruvic and homogentistic acid in 39 oligophrenic patients of a nontypical and of 90 with an exogenous genesis. In exogenic forms of oligophrenia the oxidation of tyrosine was characterized by hypertyrosinemia, hypertyrosinuria, a drop of paraoxyphenylpyruvic acid excretion. In genotypical oligophrenia the most typical were high indices of tyrosinemia, tyrosinuria, excretion of paraphenylpyruvic acid and homogentistic acid.

Adolescent↗