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J Musilová

Publications and source records attributed to J Musilová.

At least 37 records · Page 2Linked to original sources
PubMed1990

[Experience with a computer database in a cytogenetic laboratory].

The paper describes a computer system to support the data management in cytogenetics. Two major objectives are considered: the improvement of the quality and consistency of laboratory data and the support of data management in a large data set for research purposes. The entire system is divided into two logical parts. Firstly, a data collection module reads data from keyboard in an user-friendly way and checks for consistency including syntactic analysis of karyotype description. Secondly, the data are manipulated by a professional database system where three hierarchical data structures are introduced: 1. identification data, 2. investigation data and 3. karyotype description. Since 1984 we collected 1820 patients, 2800 investigations and 2760 karyotypes in the system. Currently, the system is reimplemented on IBM compatible machine using "dBase" database system in order to increase the operational speed and enhance the transportability of the system.

Chromosome Aberrations↗
PubMed1990

Bleomycin-induced chromosome aberrations in the lymphocytes of young and elderly patients.

Phytohaemagglutinin-stimulated lymphocytes from 20 young (16-28 years) and 20 old (70-88 years) healthy subjects were examined for chromosome aberrations before and after exposure to bleomycin in the G2 phase of the cell cycle. No differences were found in unexposed cultures between young and old donors. After treatment with bleomycin, the rate of chromosome aberrations was significantly higher in the elderly persons (p less than 0.05). As the results suggest, different interaction between the mutagen and DNA may be caused by the decreased capacity of the excision repair system in the elderly individuals cells.

Adolescent↗
PubMed1990

Cytogenetic abnormalities in 532 patients with myeloid leukemias and myelodyplastic syndrome. The Czechoslovak MDS Cooperative Group.

A total of 170 patients with chronic myeloid leukemia (CML), 107 in chronic phase (CP) and 63 in blastic phase (BP) of the disease, 187 patients with "de novo" acute myelogenous leukemia (AML) and 175 patients with myelodysplastic syndrome (MDS), 164 patients with primary and 11 with secondary MDS, were cytogenetically examined. All patients with CML were Ph positive, additional chromosomal changes were ascertained in 29% of patients in CP and in 71% of patients in BP. The most frequent chromosomal abnormalities were trisomy 8, additional Ph, (i(17q] and loss of Y chromosome. More favorable course of the disease was observed for group of patients with Ph chromosome as solitary chromosomal abnormality in CP. Acquired chromosomal aberrations were proved in 137 patients with AML (73.3%). Except specific chromosomal changes delineated according to the specific subtype of AML we were concerned with evaluation of nonrandom chromosomal abnormalities, specially those involving chromosome 5 and 7. Numerical and morphological changes of those chromosomes were found in 33 patients (17.6%). In MDS patients abnormal chromosomal clones were found in 68.8% of patients, those involving chromosome 5 and/or 7 in 68 patients (38.8% of all examined). The frequency of these abnormalities in AML does not differ significantly from the results quoted by the other studies. However, in our MDS patients these so called "mutagen-associated" chromosome abnormalities were significantly more frequent than in all studies published so far. Prognostic value of cytogenetic examination was evaluated on the basis of cumulative survival of patients with normal and abnormal chromosomal clones present in bone marrow cells.

Adult↗
PubMed1990

[Monocytosis and myelomonocytic dysplasia in myelodysplastic syndrome].

Myelodysplastic syndrome (MDS) is frequently associated with monocytosis in the blood and myelomonocytic dysplasia in the bone marrow. In two groups of patients with MDS, all subtypes excluding CMML, the authors demonstrated that monocytosis was present in 15% of the patients in group I according to the haemogram at the time when the diagnosis was established and in 19% in group II where it was required that at least in half the haemograms throughout the course of the disease there were more than 10% monocytes. No difference was found in the prognosis of patients with monocytosis, as compared with patients with monocytopenia as regards the life span and frequency of transformation into AL. The cytogenetic and cultivation findings did not differ either. In some instances, in particular in patients with RA and RAS significant monocytosis was not associated with the expected proliferation of monocytoid cells in bone marrow. The authors assume that proliferation and differentiation of germ cells in the monocytic series is easier than in the granulocytic series and that monocytosis can be considered a manifestation of substituted neutropenia. The work indicates the difficulties associated with the differential diagnosis of RA, RAS and RAEB with monocytosis, MDS with a dominating change of the type of myelomonocytic dysplasia and CMML proper.

Anemia, Refractory↗
PubMed1990

[Fertility in gonadal dysgenesis].

At the Second Gynaecological and Obstetric Clinic in Prague there are at present 78 phenotypic women with dysgenetic gonads in dispensary care. In 61.5% the main reason for examination in a specialized department was infertility. Based on a comprehensive examination, the authors demonstrate the relationship between chromosomal complement and histology of the gonads on one side and fertility on the other. 31% of women with dysgenetic sclerocystic gonads became pregnant after surgical and hormonal treatment. In 27% of the dispensarized group genital and extragenital tumours were detected.

Female↗
PubMed1990

Cytogenetic study of 130 patients with acute nonlymphocytic leukemia.

Results of cytogenetic examination of 130 patients (62 males and 68 females, mean age 48.7 +/- 18.7 years) with acute nonlymphocytic leukemia (ANLL) are presented. All patients were examined at the onset of the disease. According to the FAB classification, 35 (26.9%) patients were diagnosed as having M 1, 42 (32.3%) M 2,9 (6.9%) M 3, 29 (22.3%) M 4, 8 (6.2%) M 5 and 7 (5.4%) M 6 subtype of ANLL. Normal karyotype (NN) was found in 29 (22.3%) patients studied, normal and abnormal clones (AN) in 24 (18.5%) and abnormal chromosomes only (AA) in 77 (59.2%) patients. Thus 78% of patients showed a clonal karyotypic abnormality. Specific chromosomal abnormalities t(8;21), t(15;17), t(9;22), inv(16), del(16), del(11q) were found in 30.7% of AA and AN patients. Nonrandom chromosomal changes (+8, 5q--, --5, --7) were noted in 53.4% of them. Single chromosomal change was found in 40.5% of patients and complex changes with more chromosomal clones were presented in the test. Relationship between prognosis and chromosomal finding was evaluated.

Adult↗
PubMed1989

[Chromosome aberrations induced by bleomycin in the lymphocytes of young and old persons].

Phytohemagglutinin-stimulated lymphocytes from 20 young (16-28 years) and 20 old (70-88 years) healthy subjects have been investigated for chromosome aberrations before and after exposure to bleomycin in G2 phase of the cell cycle. No differences were found in unexposed cultures between young and old donors. After treatment with bleomycin the frequency of chromosome aberrations was significantly higher in the old subjects than in the young ones (p less than 0.05). The results suggest that the different interaction between the mutagen and DNA may be caused by the decreased capacity of the excision repair system in the cells of the old individuals.

Adolescent↗
PubMed1989

[New aspects and possibilities in the diagnosis of pheochromocytoma].

Pheochromocytoma is still a dangerous disease which is often difficult to diagnose. Evidence of the wide spectrum of its clinical picture was found in a group of 13 patients who were examined in the last 5 years. Drawing on their experience, the authors evolved a scheme of diagnostic examination. The primary biochemical examination involves the determination of urinary excretion of free catecholamines adrenaline, noradrenaline and dopamine simultaneously with their methylated metabolites metanephrine and normetanephrine, which help to make a more exact diagnosis in cases where the results of free catecholamines are not clear. Patients with pheochromocytoma lack diurnal rhythm of catecholamine excretion and thus the collection is made twice - by day and night. The determination of plasma catecholamines provides additional information. Only half the patients were found to have the level of vanillylmandelic acid increased. A significantly increased dopamine excretion points to the malignant form of the disease. The localization is established with the aid of computed tomography and, if needed, also by the determination of plasma catecholamines through selective cavae sampling. The final step serving to verify the diagnosis involves analysis of catecholamines in tumour tissue.

Adrenal Gland Neoplasms↗
PubMed1989

Bone demineralization, biochemical indices of bone remodeling, and estrogen replacement therapy in adults with Turner's syndrome.

The study centered on a controversy about whether long-term estrogen replacement therapy may ameliorate the osteoporosis seen in patients with Turner's syndrome. This study comprised 26 adult patients with Turner's syndrome (9 treated and 17 untreated or insufficiently treated) and 12 adult women with pure gonadal dysgenesis (8 untreated and 4 treated). A low bone density below -2 standard deviations from the age- and sex-matched predicted normal mean was documented by dual-photon absorptiometry of the lumbar spine in all the untreated and insufficiently treated patients, but only in 6 treated patients. The biochemical indices of bone resorption (urinary hydroxyproline excretion and plasma tartrate-resistant acid phosphatase activity), as well as osteoblastic function (serum osteocalcin and bone alkaline phosphatase isoenzyme), were significantly increased in untreated and insufficiently treated patients compared with treated patients. A significant negative correlation was found between biochemically documented osteoresorption and spinal bone mineral density corrected for age of the patients. Significant positive correlations were found between serum osteocalcin and bone alkaline phosphatase isoenzyme and between biochemical indices of bone resorption and formation. Although in the patients there was an evidence of a high bone remodeling rate, the rate of bone mass loss seemed to be low, comparable with that seen in oophorectomized women who had already passed their accelerated phase of bone loss. The results indicate that long-term hormonal replacement therapy is justified in gonadal dysgenesis, regardless of the karyotype of the patient, to prevent further bone mass loss.

Acid Phosphatase↗
PubMed1988

Cytogenetic study of chronic myeloid leukemia.

A total of 122 patients with chronic myeloid leukemia (CML) were cytogenetically examined. At the first cytogenetic examination 68 of them were in chronic phase (CP) and 54 in blastic phase (BP) of the disease. The mean age of the whole group was 44.8 +/- 15.2 years. All patients included in this study were Ph-positive. In two of them constitutional chromosomal aberrations were ascertained. In two patients the standard Ph translocation was accompanied within onset of BP by a clone with complex translocation and in three patients Ph chromosome was found in mosaics with normal karyotype. Standard translocation t(9.22) (q34;q11) as the sole chromosomal abnormality was found in 17 (31%) patients in BP and in 47 (69%) of patients in CP. The most frequent additional abnormalities found were +8, i(17q), +Ph and their combination, and other nonrandom chromosomal changes. Clonal evolution was proved in 11 out of 24 serially examined patients during the progression of the disease. The analysis of relationship between prognosis of the disease and the results of cytogenetic examination revealed significant differences, and a more favorable course of the disease was observed for the group of patients in CP and with Ph chromosome as the sole chromosomal aberration.

Adult↗
PubMed1986

Cytogenetic study of cancer cells in effusions.

A cytogenetic study of 71 malignant effusions caused by different histopathologic types of cancer was performed by a direct technique. Abnormal metaphases were present in 50 effusions (70.4%); a detailed analysis of banded karyotypes was possible in 20 of these. Trisomies and monosomies were present in 18 of 20 cases. The most common trisomies were +19, +3, +5, +8, +9, +10, +16 and +22; the most frequent monosomies were -X, -2, -5, -7, and -21. Clonal structural abnormalities were identified in 18 of 20 cases. In most instances, they were extensive, and some chromosomes were involved in a nonrandom fashion. Chromosomes #1, #13, and #6 were the most frequently involved in these rearrangements. A common marker chromosome, t(7;9)(p11;q12), was observed in two patients with cancer of the endometrium. Double minutes (DMs) were present in two patients, and there was a homogeneously stained region (HSR) in one.

Ascitic Fluid↗