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J Musilová

Publications and source records attributed to J Musilová.

At least 19 recordsLinked to original sources
PubMed1999

[Detection of mosaicism in women with Turner's syndrome using fluorescence in situ hybridization].

BACKGROUND: According to the literature approximately 50% of patients with Turner's syndrome have karyotype 45,X in every cell, the rest have two or more cell lines with mosaics of sex chromosomes. New methods have shown that the mosaicism is probably more frequent than expected from classical cytogenetics examinations. The aim of this study was to detect numerical changes of sex chromosomes in mitoses and interphase nuclei of cultivated peripheral lymphocytes of patients with Turner's syndrome by means of FISH, to compare the sensitivity of classical and molecular-cytogenetic methods and to estimate the values obtained in 10 control healthy females with karyotype 46,XX. METHODS AND RESULTS: 18 females with Turner's syndrome were examined. Karyotype 45,X was found by classical cytogenetics in all cells of 9 females. The 9 remaining patients had sex chromosome mosaicism of two or more clones. In all patients FISH confirmed the results of classical cytogenetic methods and in 6 patients (30%) it revealed other clones previously not detected. CONCLUSIONS: Higher sensitivity of FISH enables more precise detection of mosaicism of cell lines than classical cytogenetics and this technique is more suitable for examinations of patients with Turner' syndrome.

Adult↗
PubMed1999

[Molecular cytogenetic diagnosis of Klinefelter's syndrome in men more frequently detects sex chromosome mosaicism than classical cytogenetic methods].

BACKGROUND: It was found by classical cytogenetic methods that approximately 80% of X-chromatin positive mates have karyotype 47,XXY and the rest have mosaicism of sex chromosomes. More sensitive molecular-cytogenetic studies allow to evaluate even non-dividing cells of different tissues and therefore they suggest that there could be more frequent occurrence of patients with numerical changes of gonosomes than quoted in the literature. The aim of this study was to detect numerical changes of sex chromosomes by means of double-colour fluorescence in situ hybridisation (FISH) in dividing and non-dividing nuclei of peripheral lymphocytes of males with Klinefelter's syndrome, to compare clinical findings with cytogenetic results, to determine differences in sensitivity of classical and molecular-cytogenetic methods and estimatere the values obtained with controls (healthy males). METHODS AND RESULTS: 26 males with previously diagnosed Klinefelter's sy were examined. Classical cytogenetic studies consisted of evaluation of at least 20 G-banded mitoses of 72 h cultivated peripheral blood. The results we obtained: 19 patients with 47,XXY, 5 mosaics 47,XXY/46,XY, 1 patient mosaic 46,XX/47,XXY and 1 patient 48,XXYY karyotype. The results of double colour FISH and classical cytogenetics were compared and mosaics of cells with normal karyotype 46,XY was found. As a control 10 healthy males were examined and mosaics of gonosomes were not detected. CONCLUSIONS: FISH method has a higher sensitivity for detection of sex chromosomes mosaics than classical cytogenetics. The existence of small cellular side clones with 46,XY karyotype or numerical sex chromosomes changes which were not determined previously can be proved by FISH in patients with Klinefelter's sy.

Cytogenetics↗
PubMed1998

Cytogenetic study of acute myeloid leukemia: comparison of data obtained in 1991-1996 and 1982-1988.

The results of the cytogenetic study of bone marrow cells from 110 consecutive patients with primary acute myeloid leukemia (AML) who were diagnosed and treated between 1991 and 1996 at one tertiary care institution were compared with similar data obtained between 1982 and 1988 in 130 patients. Despite improvements in cytogenetic techniques (namely FISH methods, applied in all patients with abnormal karyotypes since 1990) in recent years we have observed a significantly lower frequency of abnormal karyotypes: 52.7% versus 77.7% (p = 0.001). This was mainly due to the decreased frequency of patients with +8, -5, -7 and inv(16). The survival rate (excluding the patients who underwent a bone marrow transplantation) was only slightly increased.

Acute Disease↗
PubMed1997

[Mixed myelodysplastic and myeloproliferative syndromes].

BACKGROUND: An injury to the hemopoietic stem cell may lead to the aplasia of hemopoiesis, myelodysplasia and to an unregulated myeloproliferation. There is not a strict demarcation of them, so that mixed syndromes can develop as are hypoplastic syndromes on one side and mixed myelodysplastic and myeloproliferative syndromes (MDS-MPS) on the other side. METHODS AND RESULTS: Among our 616 pts with MDS we looked for those cases, who had beside myelodysplasia signs of myeloproliferation with increased number of blood cells. They were examined in detail including bone-marrow histology, bone marrow cultivation, cytogenetics and bcr-abl gen. Signs of MDS-MPS were found in 22 patients at the first contact with the patient (13 patients had thrombocytemia and 9 patients had leukocytosis). Further 7 patients were diagnosed as MDS, proliferative syndrome developed after several months (MDS-MPS in evolution). The level of thrombocytemia was relatively stable, the number of leukocytes was progressive. All subtypes of MDS were found. All subjects had variable degree of anemia. Ring-sideroblasts and myelofibrosis were frequent finding in MDS-MPS. Men prevailed in patients with leukocytosis. Cytogenetic and cultivation findings were similar to MDS cases, deletion of long arm of chromosome 20 was present in 3 patients. Five patients transformed to acute myeloid leukemia. CONCLUSIONS: Sings of myelodysplasia and myeloproliferation were found in 4% of our MDS patients, designated as mixed myelodysplastic and myeloproliferative syndrome (MDS-MPS). In this syndrome beside evident signs of myelodysplasia thrombocythemia or leukocytosis with the release of bone marrow precursors are present. In only one case polycythemia was encountered.

Adult↗
PubMed1996

A case of type I Gaucher disease with cardiopulmonary amyloidosis and chitotriosidase deficiency.

Severe cardiopulmonary amyloidosis developed several months after a total splenectomy in a patient with type 1 Gaucher disease and led within a year to his death at 48 years of age. The autopsy findings were dominated by extensive pulmonary and cardiac amyloid infiltration. No Gaucher cells were found in the lungs. Aside from a glucocerebrosidase deficiency the patient was also deficient in chitotriosidase, an enzyme whose activity is usually greatly increased in the serum of Gaucher patients. Analysis of mutations in the glucocerebrosidase gene revealed heterozygosity for N370S and D409H mutations. The normal amount of glucocerebrosidase was found in the spleen by Western blotting. We suggest that amyloidosis should be considered in the differential diagnosis of severe cardiopulmonary disease in Gaucher patients.

Amyloid↗
PubMed1996

Mixed myelodysplastic and myeloproliferative syndromes.

Aplastic anemia, myelodysplastic syndromes (MDS) and chronic myeloproliferative diseases (MPD) are stem cell disorders. There is no clear-cut demarcation of them. Hypoplastic MDS displays features of aplastic anemia and MDS, on the other side mixed myelodysplastic and myeloproliferative syndromes (MDS-MPS) develop. In our collection of 566 MDS patients, features of myelodysplasia as well as myeloproliferation, MDS-MPS, were present in 25 patients (4.4%). Twelve patients had at the time of diagnosis megakaryocytic proliferation and thrombocythemia beside signs of MDS, and seven had myelodysplasia with granulocytic proliferation and leukocytosis. In another six patients, MDS was the first diagnosis and the proliferative phase developed later during the course of the disease. These patients can be characterized as MDS-MPS in evolution. All subjects had a variable degree of anemia. While the level of thrombocythemia has been relatively stable, the number of leukocytes has been progressive, but rarely extended beyond 100 x 10(9)/l. Ring-sideroblasts and myelofibrosis were frequent findings. Two more homogeneous MDS-MPS groups emerged in our analysis: sideroblastic anemia with thrombocythemia and a group fulfilling the criteria of Philadelphia chromosome negative and bcr-abl negative "atypical chronic myeloid leukemia (aCML)'. One patient with thrombocythemia and three with leukocytosis (23%) transformed to acute myeloid leukemia (AML). Men prevailed (12/13) in patients with leukocytosis and MDS-MPS in evolution. Of the 46% MDS-MPS patients with chromosomal aberrations, del(20)(q) is of interest.

Adult↗
PubMed1996

Multiple unrelated clones in myelodysplastic syndrome and in acute myeloid leukemia.

We identified cytogenetically unrelated clones in the bone marrow of 12 of 240 patients with myelodysplastic syndrome (MDS) and in 3 of 232 patients with acute myeloid leukemia (AML). In addition, unrelated single-cell abnormalities were found in six MDS and two AML patients. The most commonly encountered abnormalities present in the unrelated clones in patients with refractory anemia (RA) were del(5q), +8, and -7. In blastic types of MDS and AML trisomy 8 was found in two of eight patients while in the remaining cases the chromosome abnormalities were diverse and nonspecific. The presence of the chromosomally unrelated clones, together with recent data on the early appearance of monoclonality provided by molecular biology studies, support the interpretation that aberrations such as +8 and del(5q) are actually secondary abnormalities that develop during tumor progression in a cell with a primary submicroscopic genomic rearrangement.

Acute Disease↗
PubMed1996

[Empirical antimicrobial therapy of respiratory infections].

Respiratory infections cause a significant morbidity and mortality. Ideally, the treatment should be directed against the identified pathogen and its sensitivity to antibiotics. In many situations, however, the pathogen is unknown and the infections are treated empirically. Author briefly reviews the current empirical therapeutical recommendations based on the age of patient, comorbidity and the type of infection (acute bronchitis, exacerbations of chronic bronchitis, community acquired pneumonia, nosocomial pneumonia and pneumonia in immunocompromised patients.

Anti-Bacterial Agents↗
PubMed1995

Karyotype at diagnosis, subsequent leukemic transformation and survival in myelodysplastic syndrome. Czechoslovak MDS Cooperative Group.

240 patients with MDS studied cytogenetically at diagnosis between 1981 and 1990 were followed until death or until April 1992 to evaluate the prognostic significance of FAB classification, age and karyotype. 61 patients (25.4%) subsequently transformed into AML and 176 (73.3%) died during the follow-up period. Patients with blastic MDS types had a shorter survival and a higher probability of leukemic transformation. The younger age increased the probability of leukemic transformation, but was associated with a longer survival. The absence of analyzable mitoses was associated with a shorter survival. The complex chromosomal abnormalities at the initial evaluation identified a subgroup of patients with a high risk of a short survival and/or subsequent leukemia transformation. In refractory anemia the presence of complex chromosomal abnormalities was linked with a relative risk of 3.58 of leukemic transformation and shorter survival as compared with other cytogenetically defined groups.

Age Factors↗
PubMed1994

[Cytogenetic and genetic changes in myeloid leukemias and myelodysplastic syndrome].

Acute and chronic myeloid leukemias and myelodysplastic syndromes are similarly with other neoplastic disorders characterized by the acquired genetic rearrangements of the leukemic cells. The detection of these rearrangements with cytogenetic and molecular biology methods is of a considerable importance in the management of patients with these disorders. This applies both to the diagnosis, estimation of prognosis and the monitoring of the results of the therapy.

Chromosome Aberrations↗
PubMed1994

Sequential cytogenetic study of patients after bone marrow transplantation.

Thirty-one patients (19 males and 12 females; mean age 23.9 years, range 4-41 years) were treated with bone marrow transplantation (BMT) after intensive chemoradiotherapy. Their diagnoses were as follows: chronic myeloid leukemia (CML) in 13, acute myeloid leukemia (AML) in seven, acute lymphocytic leukemia (ALL) in six, myelodysplastic syndrome (MDS) in two, aplastic anemia (AA) in two, and Fanconi anemia (FA) in one. Allogeneic BMT was performed in 28 cases (17 donors were of like sex, 11 were of unlike sex), one patient received syngenic transplant, and one received transplant of cells obtained from an unrelated donor through a computerized international registry in London. Autologous BMT was performed in three patients. BM cells were analyzed cytogenetically at diagnosis, before and serially after BMT (three to nine times). Follow-up ranged from 2 to 55.5 months. Cytogenetic examination was a very useful method for monitoring posttransplantation course in patients with CML or in those who received BM cells of unlike sex. Results of concomitant cytogenetic examinations are reported in detail.

Adolescent↗
PubMed1994

Isolation of rotavirus strains from naturally infected piglets.

Twenty rotavirus strains were isolated in 1991-92 from 60 faecal samples collected from diarrhoeic piglets in the Czech and Slovak Republics. Three isolates were adapted to the growth in the cell line MA-104 and produced cytopathic effect. Rotavirus was demonstrated by immunofluorescence test, electron microscopy, polyacrylamide gel electrophoresis, immunoperoxidase test and ELISA.

Animals↗
PubMed1993

Chromosome sensitivity to bleomycin in patients with dominantly inherited and sporadic tumors.

G2 chromosomal sensitivity to bleomycin (30 micrograms/ml) was tested in PHA-stimulated lymphocytes of healthy subjects and in patients with familial and sporadic tumors. These were multiple endocrine neoplasias (MEN) types 1, 2A and 2B, familial medullar thyroid cancer, Recklinghausen neurofibromatosis type I, sporadic and hereditary malignant tumors, and a preleukemic disorder, the myelodysplastic syndrome. Control subjects were either young (15-20), middle-aged (28-49) or old (70-83 years). Cells from old healthy subjects and from subjects with MEN 1 showed increased sensitivity to clastogenic effects of bleomycin. All the remaining investigated groups were insignificantly different from controls. Our data suggest that in contrast with recessively inherited syndromes with chromosome instability the mutagen hypersensitivity, as evaluated by the extent of chromosomal damage, is not a feature of most dominantly inherited tumor syndromes.

Adolescent↗
PubMed1993

[Detection of porcine epidemic diarrhea virus using electron microscopy in the Czech Republic].

Coronavirus-induced porcine epidemic diarrhoea (PED) was diagnosed in two swine herds. The causal agent was demonstrated in intestinal contents by electron microscopy and identified by immunoelectron microscopy using specific immune serum to the reference strain PED-CV77. Experimental transmission to hysterectomy-derived, colostrum-deprived piglets with an intestinal contents filtrate was successful. The virus was demonstrable by electron microscopy in the intestinal contents between 12th hour and 4th day, and in small intestinal epithelial cells 18 hours after infection. Scanning electron microscopy revealed shortening and fusion of villi of small intestinal mucosa.

Animals↗
PubMed1993

[Cardiovascular changes in Turner's syndrome].

25 adult asymptomatic patients with Turner's syndrome were evaluated by clinical examination, ECG, M-mode and two-dimensional echocardiography and 24 h Holter monitoring. Patients with Turner's syndrome had a significantly higher resting heart rate (83.3 versus 73.7/min in controls, p < 0.01) and a shorter PQ interval (122.3 ms versus 147.1 in controls, p < 0.01). The short PQ interval was not associated with the karyotype (45,X vs. mosaic karyotypes and structural abnormalities of X and Y chromosome), hypertension, estrogen treatment, or congenital valvular abnormalities. No significant arrhythmias were present. On 24 hours ambulatory ECG monitoring the frequency of ectopic supraventricular and ventricular activity was identical as in published controls. The congenital heart abnormalities were detected in 8 (32%) women with T.sy, however, during the follow-up they became significant in only two (8%) of them.

Adult↗
PubMed1992

[Results of surgical treatment of ovarian dysfunction].

The authors operated 155 women where ovarian dysfunction was the cause of infertility. The first group was formed by 125 women with the Stein-Leventhal syndrome, the second group was formed by 30 women with dysgenesis of the gonads, karyotype, 46,XX. In the first group 97 of the operated women (77.6%) became pregnant. In the latter group after mere resection of the gonads 45 women (36%) became pregnant. After combined therapy (surgery and hormonal therapy) 52 infertile women (41.6%) became pregnant. Twenty-eight patients (22.4%) did not become pregnant. In the second group, i.e. in the group of gonadal dysgenesis 7 of 16 women (44%) became pregnant but only in the group of sclerocystic dysgenetic gonads. None of the women with streak or hypoplastic gonads became pregnant. In gonadal dysgenesis it is important to assess the quality of the follicular apparatus. For successful surgery of the ovary it is necessary to preserve a maximum of functional tissue and to use a careful surgical technique.

Female↗
PubMed1990

[Disorders of the cardiovascular system in Turner's syndrome].

A group of 22 adults with Turner's syndrome, mean age 29.6 years, was subjected to a careful examination by one-dimensional, two-dimensional, pulsed and coloured Doppler echocardiography. The purpose was to assess the incidence and character of congenital and acquired abnormalities of the cardiovascular system which occur within the framework of this defined genetic syndrome. A quite normal echocardiographic finding was recorded in 13 patients, i. e. in 59.1%. In the remainder a wide spectrum of abnormalities was found such as prolapse of the mitral valve (in 13.6%), bicuspid aortal valve with a medium regurgitation (4.5%), hypoplasia of the coronary cusp of the aortal valve (4.5%), dilatation of the ascending aorta with a residual significant stenosis at the site after operation of coarctation of the thoracic aorta (4.5%), subaortal defect of the interventricular septum (4.5%) and slight left ventricular hypertrophy in patients with arterial hypertension (9.1%). Echocardiographic examination in Turner's syndrome makes early diagnosis of abnormalities of the cardiovascular system possible, incl. quantification of the haemodynamic impact. Some of these pathological changes (bicuspid aortal valve, dilatation of the root of the aorta) are for a long time clinically silent but may be nevertheless associated with serious complications. An echographic diagnosis made in time may be of decisive importance for the prevention of complications.

Adolescent↗