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Biomedical subjects

O P Sidorova

Publications and source records attributed to O P Sidorova.

At least 19 recordsLinked to original sources

[Photopheresis--anew method for treatment of myasthenia].

Photopheresis with blood lymphocytes UV radiation exposure was for the first time used in the treatment of patients with myasthenia. Twenty-three patients with generalized form of the disease, aged 23-66 years, were treated. Twenty patients (87%) exhibited clinical improvement after a treatment course (4 sessions). One photopheresis session was shown to be more or less beneficial in 16 out of 23 patients (70%). The treatment resulted in strengthening of all the muscles studied, especially of mimic, platysma, biceps, deltoid, illiopsoas and gastrocnemius. Photopheresis was effective not only in a mild and moderate but in severe form of myasthenia as well. Compared to plasmapheresis, photopheresis exerts a more prolonged effect. Clinical improvement correlated with positive changes in immune status of the patients.

Adult↗

Congenital myasthenic syndrome (CMS) in three European kinships due to a novel splice mutation (IVS7 - 2 A/G) in the epsilon acetylcholine receptor (AChR) subunit gene.

Mutations in the epsilon-acetylcholine receptor (AChR epsilon) subunit gene cause congenital myasthenic syndromes (CMS) with postsynaptic neural transmission defects. We present 3 male and 2 female patients from three unrelated Croatian, Hungarian, and Russian families with autosomal recessive CMS. All patients manifested with variable degrees of ophthalmoparesis and generalized, fatiguable muscle weakness since birth or early infancy. Electrophysiological studies showed a decremental response in all patients indicating a neuromuscular transmission defect. Pyridostigmine treatment improved the proximal muscle weakness whereas the ophthalmoparesis remained unchanged in all patients. Analysis of the AChR epsilon subunit gene showed homozygosity for a novel splice site mutation of intron 7 epsilon(IVS7-2A/G) in the two Croatian siblings. epsilon-mRNA analysis by RT-PCR and direct sequencing revealed that exon 7 was spliced directly to exon 9 with skipping of exon 8. The Hungarian and Russian patients were heteroallelic carriers of the same mutation epsilon(IVS7-2A/G) and of a frameshifting mutation epsilon 70insG and epsilon 1293insG, respectively. We hypothesize that altered splice products may not be expressed as functional receptors at the cell surface. A haplotype analysis with polymorphic markers revealed a high degree of similarity for the epsilon(IVS7-2A/G) carrying allele in all families and may therefore indicate a common origin of the mutation.

Adolescent↗

[Acetylcholine receptor antibodies in patients with myasthenia].

Acethylcholine receptor (AChR) antibodies in patients with myasthenia were studied for the first time in Russia with radioimmuno-assay application. Seronegative result (antibody titer lower than 0.2 nmol/l) was obtained for 33% of the patients and seropositive one (antibody titer higher than 0.2 nmol/l)--for 67%. AChR antibodies level varied from 1.9 to 115.0 nmol/l. The AChR antibodies were found more frequently and in higher titers in women than in men. Correlation analysis revealed strong correlation between AChR antibodies level and severity of myasthenia.

Adolescent↗

[Antigens of histocompatibility in children with myasthenia gravis].

HLA-phenotype was determined in 59 juvenile patients of Russian nationality and in their 50 relatives by means of lymphocytotoxic test. There was a positive association with HLA-A1, B8 and DR3 and the negative one--with HLA-A2, A9, B5, B7, and DR7. The frequencies of HLA-A1, B8, DR3 were higher in boys than in girls with myasthenia. There were no significant changes of HLA frequencies in ocular form of the disease in comparison with the healthy group. The frequencies of HLA-B8 and DR3 were significantly higher in relatives of the patients with juvenile myasthenia than in control population.

Child↗

[Twin studies of myasthenia].

Twin pairs with one or two myasthenic patients were selected from patients with neuromuscular pathology. 18 couples of twins were included in final selection (9 monozygotic and 9 dizygotic pairs). 4 pairs of monozygotic twins were concordant to myasthenia (MA). All dizygotic pairs were discordant to this disease. Matched concordance of monozygotic twins was 44%. Penetration of pathological gene was 61% assuming the hypothesis about monogenic heredity of MA. The coefficient of heredity was 44%. The conclusion was made about important, but not absolute role of hereditary factors in development of MA. It was necessary the presence of combination of both genetic and environmental factors for MA development.

Adolescent↗

[Analysis of the association of ABO blood groups and Rhesus factor with myasthenia].

The distribution of ABO blood groups and rhesus factor was studied in patients with myasthenia as compared with the control. There was a statistically significant association of the diseases with the rhesus-negative phenotype and that of generalized myasthenia concurrent with thymoma with the B (III) blood group. The examination revealed no other determinants of the significant association with the disease. The values of a disease risk were obtained for persons having myasthenia-associated signs. It is concluded that the Rh-negative phenotype shows a 1.3-fold increase in the risk of the disease as compared with those having Rh-positive persons.

ABO Blood-Group System↗

[The role of mutagenic factors in the development of diffuse toxic goiter].

The role of mutagenic factors in the onset of diffuse toxic goiter (DTG) was studied in 49 families of probands with DTG. The evidence obtained on the order in which the child was born in the proband's family, age of the parents at the time of DTG child delivery, implications of occupational factors in DTG onset does not rule out mutagenic effects in the origin of DTG and thus feasibility of the key gene influence on the disease predisposition.

Adolescent↗

[Surgical treatment of myasthenia gravis in children].

Thymectomy was included in the complex of therapeutic measures in the management of generalized myasthenia in 41 children. Much attention was given to preoperative management in which plasmapheresis was applied along with the traditional methods. As a result, maximum compensation of the myasthenic disorders was achieved and spontaneous respiration was restored in 9 patients who were given artificial ventilation of the lungs before the operation. The authors describe the techniques of thymectomy and the changes found in the thymus during histological study. No complications occurred. All of the children were discharged from the clinic in an improved condition. The late-term results were studied in 38 children in follow-up periods of 6 months to 4 years. Marked stable improvement was recorded in 31 (77.5%) patients.

Adolescent↗

[Clinical characteristics of hereditary ataxia].

Employing the clinical signs of diseases the authors compared characteristics of different hereditary ataxias (Friedreich's ataxia, familial spastic paraplegia, Marie's disease, olivopontocerebellar atrophy, Roussy-Levy syndrome, and Charcot-Marie neural amyotrophy). It is emphasized that clinico-genealogical examination is essential for the identification of the nosological form of the disease.

Adolescent↗

[Visual motor coordination and its clinical significance].

The article presents the analysis of coordination disorders detected by clinical tests and tests aimed at examining the reaction of following a spot of light and the technique of determining the degree of tremor in hereditary ataxias. It has been shown that the most marked alterations are observed when the nervous system is severely damaged. The methods employed make it possible to quantitatively assess motor disturbances, supplementing, therefore, the available clinical findings. They also permit objective evaluation of the efficacy of the conducted therapy.

Ataxia↗

[Static disorders in hereditary ataxias].

Static disorders elicited by the adequate methods of the assessment of equilibrium (stabilography) and gait (plantography) in hereditary ataxias have been analyzed. These techniques of examination make it possible to quantitatively estimate motor disorders, supplement clinical findings and provide an opportunity for objective evaluation of the efficacy of the conducted therapy.

Cerebral Palsy↗