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1

The role of genetic factors in the pathogenesis of thyroid neoplasms

100%
Ferenc T., Maciaszczyk K., Gesing A., Lewinski A.
Postępy Higieny i Medycyny Doświadczalnej
|
1997
|
vol. 51
|
issue 4
367-384
EN
This paper summarizes the current knowledge on the role of genetic factors in the development of thyroid neoplasms. The introduction of the methods and concepts of molecular genetics (as, e.g. recombinant DNA technology) have elucidated etiopathogenesis of the majority of thyroid tumours and, in the future, can make the diagnosis easier. Mutations of genes involved in the control of cellular growth and/or differentiation (ras, c-myc, RET, met) affect the development of thyroid neoplasms. Loss of heterozygosity (LOH) may suggest the presence of tumor suppressor genes and has been reported in thyroid follicular carcinomas. Activation of tyrosine kinase, whether by specific oncogene amplification or by rearrangement, appears to be highly specific for the transformation of thyroid follicular cells into papillary tumours. Cytogenetic studies have shown frequent clonal abnormalities in thyroid follicular adenomas and carcinomas.
2

Immunopathology of Grave's disease

100%
Baj Z., Ferenc T., Lewinski A.
Postępy Higieny i Medycyny Doświadczalnej
|
1997
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vol. 51
|
issue 5
531-546
EN
The pathogenesis Graves' disease, an autoimmune disorder, is not fully understood. Immune disturbances, genetic predisposition and environmental factors, affecting thyroid gland, appear to play the main role in contribution and development of the disease. Autoreactive T lymphocyte infiltrates in the thyroid gland and/or in the retroorbital tissues and autoantibodies to TSH receptor detected in almost all of the patients, have been considered to be responsible for hyperthyroidism, ophtalmopathy, pretibial dermopathy and goiter. In this review, we describe some recent reports on the pathophysiological and immunological aspects of the thyroidal and extrathyroidal manifestations of the Graves' disease.
3

Satellite association frequency in persons with goiter

100%
Ferenc T., Bratkowska W., Maziarz Z., Gaszynska M.
Genetica Polonica
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1994
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vol. 35
|
issue 4
333-344
EN
The work was carried out to estimate satellite association (SA) frequency of acrocentric chromosomes in male and female persons with goiter at a normal, increased and decreased concentrations of thyroid hormones with relation to meiotic or mitotic nondisjunction.Satelite associations were estimated on the methaphase plates obtained through macroculture of peripheral blood limphocytes.The concentration of triiodothyronine (T3) and thyroxine (T4) was determined by the method of radioimmunological analysis (RIA).
4

Analysis of chromosome aberrations, sister chromatid exchanges (SCE) and cell division kinetics in human lymphocytes exposed in vitro to new monophosphates of pyrimidine acyclonucleosides

88%
Ferenc T., Rutkowski M., Bratkowska W., Hubner H., Draminski M.
Journal of Applied Genetics
|
1998
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vol. 39
|
issue 1
113-127
EN
Five newly synthesised monophosphates of two pyrimidine acyclonucleoside series, namely 1-N-[(2'-hydroxy)ethoxymethyl] and 1-N-[(1',3'-dihydroxy)-2'-propoxymethyl] derivatives of 5- and 5,6-alkylated uracils were tested in vitro for chromosome aberrations and sister chromatid exchanges (SCE). Metaphase plates were obtained via microculture of human lymphocytes from heparinized peripheral blood. The compounds were tested in doses: 10, 20, 40, 80 and 150 ?g per mL of culture. The tested compounds induced mainly chromatid gaps, less frequently chromosome gaps. A low number of mitoses with chromatid and chromosome breaks, acentric fragments, dicentric chromosomes and exchange figures were also observed. The tested compounds in doses: 40, 80 and 150 ?g per mL, doubled or tripled the percentage of cells with chromatid gaps and chromosome gaps as compared to the control. The percentage of cells with aberrations (excluding gaps) induced by the tested compounds in all doses did not exceed 2%. The tested compounds induced a higher number of SCE per cell but less than double frequency as compared to the control. SCE frequencies and replication index (RI) values varied depending on the examined compounds. For the highest dose of the tested compounds (150 ? per mL) a significant decrease in RI values was observed for 1-N-[(2'-hydroxy)ethoxymethyl]-5,6-tetramethyleneuracil monophosphate and for 1-N-[(2'-hydroxy)ethoxymethyl] -5,6-dimethyluracil monophosphate. So far, the results have indicated potential clastogenicity of all the tested compounds except acycloguanosine monophosphate.
5

Chromosome aberrations, sister chromatid exchanges (SCE) and cell division kinetics in human lymphocytes exposed in vitro to purified trypsin inhibitor from Ascaris

88%
Blaszkowska J., Bratkowska W., Lopaczynska D., Strozynski H., Ferenc T.
Journal of Applied Genetics
|
2004
|
vol. 45
|
issue 2
265-274
EN
The purified trypsin inhibitor (TI) isolated from nematode Ascaris suum was tested in vitro for chromosome aberrations and sister chromatid exchanges (SCE). TI was obtained from the musculocutaneous sac homogenate of adult Ascaris by the modified method of Rola and Pudles. The inhibitor was isolated and purified from the SF5 fraction of proteins by gel filtration on Sephadex G-50 and electrophoresis SDS-PAGE of the obtained fraction after molecular filtration. TI showed a high inhibitory activity against crystalline trypsin (18.8 Kassell?s units/mg of protein). Genotoxicity assessment of TI was carried out on metaphase plates received from peripheral blood lymphocyte macroculture (48 h-test of structural chromosome aberrations and 72 h-test of SCE), without exogenous metabolic activation. TI was tested in doses: 25, 50 and 100 mg per mL of culture. Kinetics of cell divisions was determined by the replication index (RI). We found that TI in vitro did not induce chromosome aberrations. It induced a higher number of SCE per cell but less than double frequency as compared to the control. The difference was significant only for the dose 50 mg/mL. For all doses, replication index (RI) values were significantly higher and mitotic index (MI) values were significantly lower than in the control. Thus the Ascaris trypsin inhibitor did not show any genotoxic properties but exhibited a mitostatic activity.
6

The frequency of satelite associations in parents of children with trisomy 21

76%
Ferenc T., Bratkowska W., Barczyk A., Kochanska H., Orlowska S., Byczkiewicz F.
Journal of Applied Genetics
|
1995
|
vol. 36
|
issue 1
81-88
EN
The paperr presents the frequency of satellite associations (SA) of acrocentric chromosomes in 11 mothers and 11 fathers of children with trisomy 21 with reference to meiotic and mitotic nondisjunction.The control group consisted of 60 individuals of the both sexes at the age of 20-45.Satelite associations were investigated in the metaphase plates obtained from the culture of peripheral blood lymphocytes.The association index values (AI) in six mothers and six fatheers exceeded the mean AI value plus 2 standard deviations noted for the control group of women and men.The mean AI values for chromosome 21 in the group of fathers and mothers of children with trisomy 21 were significantly higher in comparison to the control of man and women.Associations 13-21, 21-21, 21-22 in the fgroup of mothers and 13-21, 15-21, 21-21, 21-22 in the group of fathers were observed more frequently than in control group.Associations 13-13-21, 13-21-21, 13-21-2, 21-21-22 occured more frequently in the group of parents of children with trisomy 21 than in the control.
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