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Biomedical subjects

M Tsoneva

Publications and source records attributed to M Tsoneva.

At least 19 recordsLinked to original sources

[Genetic susceptibility to pancreatitis].

Pancreatitis is a complicated polyetiological disease rather frequently met with. Inflammatory degenerative changes in the pancreas are the underlying cause of the condition which in acute cases may give rise to irreversible pancreonecrosis, and in chronic ones--to fibrosis development and severe pain syndrome. Of utmost importance is the patient's genetic susceptibility to pancreatitis. The purpose of the study is to assay the role of genetic factors involved in the etiopathogenesis of pancreatitis. The interest focused on alpha1 antitrypsin (alpha 1 AT) arises from the fact that its mutant forms are implicated in the destructive processes within the organism. The reduced inhibitory activity of alpha 1 AT enhances the action exerted by the proteolytic enzymes--trypsin and chymotrypsin [correction of hemotrypsin]. Impairment of the balance between proteases and their inhibitors plays certain role in pancreatitis development. Seventy patients, 44 men and 26 women, are covered by the study, with 42 of them presenting acute pancreatitis, and 28--chronic relapsing form. A high rate of alpha 1 AT mutant genes carrier state is established--14.28 per cent, exceeding statistically significantly the incidence of alpha 1 AT variants in the Bulgarian population--4.95 per cent (p < 0.01). In acute pancreatitis patients the incidence of alpha 1 AT variants is 2.38 per cent, and in chronic forms--32.14 per cent. In pancreatitis patients alpha 1 AT deficit brings about genetic predisposition to serious complications, e.g. chronification of the process. Individual therapeutic approach is mandatory, with Kontrikal used in chronic relapsing pancreatitis in the form of substitutive medication, and in acute pancreatitis--according to judgement depending on the clinical picture and laboratory findings.

Acute Disease↗

[The secretory type of persons who have survived a myocardial infarct].

250 persons (117 men and 73 women) with past myocardial infarction, between 19 and 65 years of age, were examined for the secreting quality (or nonsecreting) of ABO(H) antigens in the saliva. The secreting persons were additionally examined for the antigens titer. 38.40% of the persons examined were found to be nonsecreting which is twice as many than are normally found among the Bulgarian population (18.69%). In the group of patients with past myocardial infarction the weak secreting persons were significantly more numerous while the moderate and strong secreting persons were significantly less. The data of the study allow the conclusion that the nonsecreting and the hyposecreting types are a risk factor for myocardial infarction.

ABO Blood-Group System↗

[Population polymorphism of silver-stained nucleolar organizer chromosome regions in man].

Activity of nucleolar organizer regions (NORs) of acrocentric chromosomes determined by Ag-staining was comparatively studied in 40 individuals of Bulgarian and 40 individuals of Russian populations. Chromosome 21 was found to be significantly more often stained in both populations. The other NORs did not differ significantly in staining from the means. No differences were noted between individual NORs, in respect of the intensity of Ag-staining in both populations, except chromosome 15 which showed markedly decreased staining capacity in Russians. The data obtained are compared with those published in literature concerning four other populations.

Adult↗

[Chromosome marker in Balkan endemic nephropathy. I].

Marker third choromosome was established in 15 patients with Balkan entemic nephropathy (BEN) by high resolutive analysis, the chromosome characterized by altered rate of band differentiation in the distal half of the long arm--shortening of the band 3q25 and faster fusion of the subbands 3q26.1 and 3q26.3, not corresponding to the stage of chromosomal contraction. The reason for the asynchronization in the band characteristic observed is admitted to be the microstructural chromosomal reconstruction--del 3q24.2.

Balkan Nephropathy↗

[Familial cytogenetic studies in Balkan endemic nephropathy. II].

Twenty clinically healthy relatives were studied of patients with Balkan endemic nephropathy via high resolutive chromosome analysis. Dynamic deviations in G-band structure of third chromosome was established in 10 of the subjects studied, namely--shortening of the band 3q25 and a faster fusion of subbands 3q26.1 and 3q26.3, not corresponding to the stage of chromosomal contraction. A complete coincidence was obtained between the carriership if marker chromosome A3 and the data from the biopsy studies, revealing initial morphological changes in the kidney, characteristic for Balkan endemic nephropathy.

Adolescent↗

Genome and chromosome mutations in porphyria cutanea tarda.

Spontaneous genome mutations in ten patients with porphyria cutanea tarda (PCT) amounted to 1.02% as compared to 0.36% in the control group of healthy individuals (P less than 0.01). Spontaneous structural chromosome aberrations in patients were seen in 2.39% of the examined cells versus 0.70% in the cells of controls (P less than 0.01). The increased percentage of cells with spontaneous genome and chromosome mutations in patients with PCT cannot be associated with alcohol only.

Adult↗

[Clinicogenetic studies of a patient with the Corinth type of glucose-6-phosphate dehydrogenase deficiency].

A patient with repeated hemolytic episodes since early childhood of undistinguished etiology is described. The patient was three times admitted to hospital--infectious and internal diseases clinics on the occasion of the manifested hemolytic-icteric syndrome. The clinical, biochemical, genealogical and other investigations carried out, confirmed the presence of G-6-PD deficiency. That genetic effect was found in 6 of all 17 subjects, examined of the family. The patient had inherited the genetic defect from his mother. The studies in accordance with WHO programme, revealed that a G-6-PD, type Corinth variant, was concerned. The male-patient, presented by us is of particular interest in a clinical and differentiation diagnostic aspect.

Adult↗

[Correlation between genome mutations and the cell division types in immunological sensitization states].

The authors examined the frequency of cells with polyploidy-P, with amitot division-AD and with mitotic division-MD in 25 patients with schizophrenia and proven anticerebral autoimmune sensibilization by means of blast-transformation test-BS, in 20 partners of marriages with multiple spontaneous abortions and suspected isoimmunization-PCA as well as control group of 63 healthy adults and newborn infants. Simultaneous increase of the frequency of cells with polyploidy and amitotic division was established in patients with schizophrenia--1,16% of P and 0.40% AD in 4 women with spontaneous abortiosn -- 1.5% of P and 0.80% of AD compared with the control values of 0.54% of P and 0.17% of AD. The highest percentage P -- 1.12 and AD -- 2.1 was found in BS with chronic process, in whom the blast-transformation reaction to brain antigen --34% was mostly manifested. In the cultures of BS, treated with brain antigen, AD reached up to 1.38%. The increase of AD was accompanied with lowering of mitotic index: BS -- 1.2% of MD and 0.40 of AD; PSA -- 2,04% of MD and 0.50 of AD compared with the control values of 4% of MD and 0.17% of AD. The results showed that immunologic sensibilization was accompanied by an increase of genome mutations and amitotic division and with lowering of mitotic index; they revealed polyploidy and amitotic division as compensatory mechanisms of the organisms under certain conditions.

Abortion, Habitual↗

[Immunomorphological studies of chronic hepatitis and liver cirrhosis].

The authors carried out clincial and immunomorphologic studies on 15 patients with chronic hepatitis and liver cirrhosis with unknown etiology. The presence of specific sensibilization of lymphocytes of the patients to liver tissue was examined by blast-transformation test. For this purpose they compared immunomorphologic response to lymphocytes in culture from peripheral blood to liver and renal antigen, using parallel procedure with FHA and cultures, growing spontaneously. Ten clinically healthy and 12 persons with renal polycystosis were examined as controls. The results showed an increased immune response to lymphocytes of the patient with liver cirrhosis to liver antigen as well as to culture, developing spontaneously, which suggested that autoimmune reaction with specific tendency to antigens of liver developed in these persons.

Autoimmune Diseases↗

[Comparative cytogenetic studies of newborn infants and adults].

The authors examined comparatively the frequencies of genomic, counted and structural chromosomal aberrations and associations of acrocentric chromosomes (AAC) in lymphocytic cultures from 35 phenotipic healthy newborns and 15 clinically healthy persons over 60 years of age. Polyploidy was found in 0,16% of the cells in the newborns and in 0,47% of the cells of the adults (0,1 greater than P greater than 0,05). Aneuploidy was established in 0% of the cells of the newborns and in 5,7% of those of the adults (P less than 0,05). In the hyperploid karyotypes 1,3% of the cells of the adults the additional chromosomes were of group C and D. Structural aberrations were observed in 0,58% of the cells of the newborns and in 3,6% of those of the adults (P less than 0,05%. Chromosomal and chromatoid breaks with or without the presence of fragment predominated. Cells with AAC in the newborns were 61,7% against 81,4% in the adult persons (P less than 0,001). The number of the associating chromosomes increased with advancement of age--19,2% in the newborns and 31,9% in the adults (P less than 0,001). In the newborns 21,5% of the chromosomes from group G participated in associations and 17,7% of chromosomes from group D; in the adults both groups were equally engaged--31,3% of the chromosomes G and 32,4% of the chromosomes D.

Aged↗

[Comparative study of the mutagenic effect of several chemical substances on Syrian hamsters].

The authors carried out experiment on 38 Syrian hamsters, treated with cyneb, tetracycline and chlorpromasine in groups for a period of tree days. They examined the changes in the cariotypes of the animals as well as the changes in the mytotic activity of bone-marrow cells. Data were based on the analysis of 3045 metaphasic plates and 190,000 cells. It was established that the examined substances possessed mutagenic effect on the Syrian hamster in doses applied in vivo. This effect was mostly manifected in the animals treated with cyneb, followed by chlorpromasine and tetracycline. The same chemical substances reduced the mytotic activity of the bone-marrow cells. The data of the experiments in vivo correlated positively with the results of the experiments in vitro of human lymphocytic cultures, treated with the indicated substances.

Animals↗

[Secretory type and the X-sex chromatin characteristics of persons with peptic ulcer].

Blood groups according to ABO and Rh systems were tested in 137 ulcer patients as well as the secretory state. The titre of blood group ABH antigens was determined in the same patients, secreted in saliva and gastric juice. The results are compared with those obtained from the examination of a control group of 30 clinically healthy subjects. X-sex chromatin in the cells of biopsy mucosa was examined in 40 ulcer patients, taken from the ulcer area after gastroscopy. As a control, X-sex chromatin was studied in smears from exfoliated oral mucosa in the same subjects. The data confirm the presence of genetic predisposition to ulcer disease development in subjects from blood group O (alpha, beta) and non-secretory type. Low titres of blood group antigens were found in the secretory patients. Differences in X-sex chromating characteristics were observed between bucal mucosa and the mucosa from the ulcer area.

ABO Blood-Group System↗