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At least 37 records · Page 2Linked to original sources
PubMed1978

Cytogenetic analysis on children born of parents treated with immunosuppressive drugs.

Two women previously treated with cyclophosphamide had five pregnancies, resulting in seven normal offspring, including two sets of twins. All the babies had normal chromosome constitution and there was no significant chromosome damage. Apart from the twin pregnancies, which were induced, the pregnancies continued to full term and the birth weights were good. Men with renal transplants receiving azathioprine and prednisolone fathered 13 pregnancies, resulting in 11 offspring; one was a mongol; there were two spontaneous abortions, including a twin pregnancy. With the exception of the mongol, the babies had normal chromosome constitution and there was no significant chromosome damage. Two women with renal transplants receiving azathioprine and prednisolone have had four pregnancies, two ended in spontaneous abortion and two continue.

Azathioprine↗
PubMed1975

Cytogenetics analysis of meiotic chromosomes of irradiated mice and their progeny after treatment with streptomycin and dihydrodeoxystreptomycin.

The purpose of this investigation is to find out whether streptomycin and the related compound dihydrodeoxystreptomycin have any mutagenic effect and whether they both are capable of recovering X-ray induced chromosomal translocations in mouse spermatogonia of directly treated animals and their progeny of the first generation. The cytological findings show the absence of any mutagenic effect in animals nonirradiated and treated with streptomycin and dihydrodeoxystreptomycin. The frequency of chromosomal translocation after total irradiation was 9,07%; in animals treated with streptomycin following irradiation 5.13%, and in those irradiated and treated with dihyrodeoxystreptomycin, 3.70%. Male offsprings, originated from parents treated only with antibiotics show no chromosomal translocations. However, offsprings originated from irradiated and treated parents gave birth to the male offspring with chromosomal translocations.

Animals↗
PubMed1979

[Use of Blasto-Kit for cytogenetic analysis].

We have considered the possibility of using commercial Blasto-Kit, with AB pool, for chromosome analysis. Comparative researches have been made between Blasto-Kit-AB and Blasto-Kit in which AB serum was replaced by FCS. Using 0.1 ml of whole blood lymphocyte response to PHA after incorporation of thymidine H3 and the mitotic rate obtained have been evaluated. The Blasto-Kit-AB gives better results if compared with Blasto-Kit-FCS either in lymphocyte response to PHA or in chromosome analysis.

ABO Blood-Group System↗
PubMed1978

[Cytogenetic analysis of the 1-st cleavage division of rat embryos].

The chromosome number in 174 zygotes on the stage of the 1st cleavage division was counted. In 113 zygotes (64.94%) euploidy (metaphase with 42 chromosomes) and in 57 zygotes (32.77%) aneuploidy was found. Frequencies of spontaneous chromosomal aberration were 14.93%. 33 zygotes were hypoploid, 6 (3.44%)--hyperploid (with 43 and 46 chromosomes), and 3 (5.76%)--polyploid, 4 zygotes (2.29%) had structural anomalies of chromosomes. Hypoploidy may be often due to artifacts. Superovulation induced by gonadotrophin results in an increased polyspermia.

Animals↗
PubMed1975

Cytogenetic analysis of oral and cutaneous squamous cell carcinomas in the rat.

Chromosomes of induced carcinomas in the oral mucosa and epidermis of rats were studied in vitro. The tumours were induced by repeated applications of one of two carcinogens: the fat-soluble 7,12-dimethylbenz (a) anthracene (DMBA) or the water-soluble 4-nitrochinoline N-oxide (4NQO). Non-random chromosomal patterns, different for each carcinogen, were revealed, irrespective of the location of the tumour. The DMBA-induced carcinomas showed the same karyotypic deviations as those in leukemias and sarcomas induced in the rat by the same carcinogen. The 4NQO-induced carcinomas displayed chromosome features similar to those previously observed in embryonic rat tissue subjected to malignant transformation by the same agent.

4-Nitroquinoline-1-oxide↗
PubMed1979

Mutagenicity studies with nitrofurans. I. Mutagenicity of nitrofurylacrylic acid for mammals.

Cytogenetic analysis of mouse bone-marrow cells, the dominant lethal test in mice and the cytogenetic analysis of human peripheral lymphocytes in vitro were used to study the mutagenicity of 3-(5-nitro-2-furyl)acrylic acid (5-NFA) for mammals. The bone-marrow cytogenetic analysis was performed in female mice exposed to 5-NFA administered intraperitoneally in single doses of 15--120 mg/kg and in 5 repeated doses of 15 and 30 mg/kg, intragastrically in single doses of 30--240 mg/kg and 5 repeated doses of 30 and 60 mg/kg, and perorally for 12 weeks to 5-NFA concentration of 10, 100 and 1000 mg 5-FNA/1 in drinking water. The bone-marrow analysis was performed in this case after 12 days, 3, 4, 6, 8, 10 and 12 weeks exposure. No increase in chromosome damage attributable to dosing with 5-NFA occurred in any of these experiments. Experiments in which mice were exposed to 5-NFA in drinking water for 12 weeks and then treated with a single i.p. dose of 2 mg of the mutagen TEPA [trix-(1-aziridinyl)phosphine oxide] per kg revealed that, at a concentration of 1000 mg 5-NFA/1, the clastogenic activity of TEPA was reduced to that in untreated animals. The dominant lethal test was performed in male mice exposed to 5-NFA applied intraperitoneally in single doses of 40--120 mg/kg and in 5 repeated doses of 10--30 mg/kg, intragastrically in 5 repeated doses of 20--60 mg/kg, and perorally for 4 weeks in drinking water containing 5-NFA at concentrations of 10, 100, 316 and 1000 mg/l. No significant differences were detected between the exposed and control groups of animals. Experiments in which male mice were exposed to 5-NFA in drinking water and treated after the 4-week exposure to 5-NFA with 1 mg TEPA/kg revealed that a concentration of 1000 mg 5-NFA/1 reduced TEPA-induced dominant lethality to within control values. A reduction in male fertility was observed after the single or repeated 5-NFA doses, but no changes when 5-NFA was applied in drinking water. The cytogenetic analysis of human peripheral lymphocytes exposed in vitro for the last 24 h of culture to concentrations of 1--100 micrograms 5-NFA/Ml did not show any compound-related chromosomal changes. The results of dominant-lethal and bone-marrow cytogenetic studies in mice after consumption of drinking water containing 1000 mg of 5-NFA/1 for 12 weeks and dosed subsequently with TEPA suggests that 5-NFA has some antimutagenic activity. Because none of the studies reported revealed any compound-related genetic activity, the results suggest that 5-NFA is not a chromosome-breaking agent in mammals.

Acrylates↗
PubMed1976

System for the evaluation of the risk from chemical mutagens for man: basic principles and practical recommendations.

A testing system is recommended that permits (1) reduction in cost and time requirements, (2) analysis of gene and chromosome mutations in germ and somatic cells, (3) evaluation of mutagenic effects of a chemical substance and its metabolites, (4) guarantee of the minimal variability between separate experiments and (5) evaluation of the dose--effect relationship. The testing scheme has two parts, a screening system and a complete test system. The screening system consists of two tests: (a) test on microorganisms with a metabolic activation in vitro (or test on Drosophila) and (b) cytogenetic analysis of mammalian bone marrow. The complete test system includes 4 tests: (a) test on microorganisms with a metabolic activation in vitro and in vivo (or test on Drosophila), (b) dominant-lethal test on mammals, (c) cytogenetic analysis of mammalian bone marrow and (d) cytogenetic analysis of the culture of human lymphocytes. The decision whether the selected chemical substance is to be tested according to the screening or complete test system is based on: its occurrence in the population, its economic (or medical) significance, and on information concerning its mutagenic, carcinogenic or teratogenic effects. The group of chemicals to be tested according to the screening system involves: industrial chemicals, organophosphate insecticides, drugs used by a limited group of patients. The group of chemicals to be tested according to the complete test system consists of pesticides, food additives, drugs in general use as well as chemicals of the former group, if at least one of the screening system tests detected some genetic effect. Genetic risk estimation should be governed by the following considerations. A positive effect identified in any test of the testing system must have a direct bearing on man. Quantitative evaluation of mutagenic risk from a chemical substance can be determined by the increased level of spontaneous mutations in the most sensitive test on the basis of an average dose of, and exposure to, the given chemical substance in the human population. Chemicals showing a mutagenic activity in any of recommended tests are subject to the quantitative evaluation, they are usually widespread and because of their social or economic value they cannot be replaced or excluded. Genetic aspects require that any substance with a mutagenic activity be considered dangerous and its use should be prohibited or it should be replaced by another non-mutagenic chemical, or at least the contact with it should be limited to persons of non-reproductive age. From the hygienic aspect it is recommended, as a temporary measure, to evaluate a chemical mutagen and to prohibit or limit its use if its average population dose produces a 0.1% or greater increase in the spontaneous level of mutations.

Animals↗
PubMed2026

KIT and FLT3-ITD mutations do not predict outcomes in pediatric core-binding factor acute myeloid leukemia: findings from the C-HUANAN-AML-15 multicenter cohort study.

Although core-binding factor acute myeloid leukemia (CBF-AML) is generally considered a favorable-risk subtype in children, disease relapse remains a significant concern. The prognostic relevance of co-occurring mutations, particularly KIT and FLT3-ITD, remains debatable, and treatment intensity may modulate their impact. This multicenter analysis included 289 children (<&#x2009;14 years) with newly diagnosed CBF-AML enrolled in the C-HUANAN-AML-15 study (2015-2023). KIT and FLT3-ITD mutations were identified via cytogenetic analysis and targeted sequencing. Measurable residual disease (MRD) was evaluated by multiparameter flow cytometry (MFC) and quantitative polymerase chain reaction (PCR) following induction chemotherapy. Survival analyses were performed using Kaplan-Meier and Cox regression methods. This multicenter analysis included 289 children (<&#x2009;14 years) with newly diagnosed CBF-AML enrolled in the C-HUANAN-AML-15 study (2015-2023). KIT and FLT3-ITD mutations were identified via cytogenetic analysis and targeted sequencing. Measurable residual disease (MRD) was evaluated by multiparameter flow cytometry (MFC) and quantitative polymerase chain reaction (PCR) following induction chemotherapy. Survival analyses were performed using Kaplan-Meier and Cox regression methods. KIT mutations were detected in 103 patients (35.6%), predominantly involving exon 17 (69.9%), and were associated with extramedullary disease, sex chromosome loss, and trisomy 22. No significant differences in 5-year event-free survival (EFS), overall survival (OS), or cumulative incidence of relapse (CIR) were observed between patients with and without KIT mutations. FLT3-ITD mutations (5.5% of patients) did not adversely affect outcomes. Neither mutation independently predicted survival. MRD positivity (MFC-MRD&#x2009;&#x2265;&#x2009;0.1%) after the second induction cycle strongly predicted inferior EFS and OS and higher CIR, with corresponding results observed for molecular MRD and parallel findings for PCR-based MRD. In this large multicenter cohort, KIT and FLT3-ITD mutations did not adversely affect the prognosis of pediatric CBF-AML treated according to the C-HUANAN-AML-15 protocol. MRD after induction was the most powerful predictor of relapse and survival, underscoring its importance for risk stratification in future pediatric AML trials.

Humans↗
PubMed1977

Potential genetic risks from stationary magnetic field.

Cytogenetic analysis of Dede cell lines (Chinese hamster) was used to study the mutagenic effect of stationary magnetic field (SMF) and the combined effect of SMF and TEPA. Cytogenetic analysis showed a moderate mutagenic effect after exposure to SMF. In combination with TEPA, only the additive effect of the two mutagens was observed.

Animals↗
PubMed1978

Cytophotometric DNA-measurements in abortion.

Triploid abortuses ascertained by cytogenetic analysis histologically show molar degeneration of the placental villi. Changes of this type which are occasionally encountered in routine material may suggest chromosome abnormality although chromosome analysis is precluded due to fixation. However, suspected triploidy can be proven in Feulgen-stained sections by DNA-measurements. In nine cases of molar degeneration selected according to histological criteria, evaluation of nuclear DNA-content revealed only two triploid placentae. It seems acceptable to assume that such molar changes in diploid abortuses may be due to prolonged retention of the placenta. Thus, histological criteria may suggest but cannot establish the diagnosis of triploidy. In case of susepcted triploidy of the feto-placental tissue, DNA-measurements can confirm or exclude the diagnosis even if a cytogenetical analysis is not applicable.

Abortion, Spontaneous↗
PubMed2026

Cytogenetic Diversity of Variant Philadelphia Translocations in Chronic Myeloid Leukemia.

INTRODUCTION: Chronic myeloid leukemia (CML) is a disease characterized by Philadelphia (Ph) translocations. These translocations can be classical or variant. The structural features and diagnostic implications of variant Philadelphia translocations remain incompletely defined, and they display considerable cytogenetic heterogeneity. METHODS: In this retrospective study, variant Ph translocations identified by conventional cytogenetic analysis and fluorescence in&#xa0;situ hybridization (FISH) were systematically classified among 639 patients diagnosed with CML. A total of 35 patients with variant Ph translocations were included in the analysis. Molecular follow-up data, when available, were assessed using RT-qPCR analyses in a subset of patients. RESULTS: Chromosome analysis revealed 2 simple and 33 complex variant Ph translocations. FISH analysis, performed in 20 patients, identified deletions involving BCR, ABL1, or both in a limited number of cases. Additional chromosomal abnormalities and secondary translocations accompanied variant Ph translocations in four patients. The partner chromosomes involved in variant Ph translocations showed marked diversity, involving multiple chromosomal loci. CONCLUSION: Variant Philadelphia chromosome translocations in CML exhibit substantial cytogenetic diversity, reflecting the complexity of their underlying genomic architecture. The rarity and heterogeneity of these rearrangements complicate their classification and interpretation in routine diagnostic practice. Descriptive reporting of variant Ph translocations may contribute to a better understanding of their diagnostic complexity and support more accurate cytogenetic interpretation in CML.

Humans↗
PubMed1979

[Value of the meiosis test in male infertility].

The histological evaluation of testicular biopsy in the investigation of infertility was supplemented by cytogenetic analysis of spermatogenesis in 72 patients from 1976--1978. The results show meiosis analysis to be a practical aid in the assessment of male infertility. It enables the point of interruption in the meiotic process to be accurately identified. A review of relative populations of meiotic and of interphase nuclei (the meiotic index) permits evaluation of a quantitative disturbance of spermatogenesis, a finding that is of particular value when establishing a patient's prognosis. Moreover, meiotic analysis makes it possible to recognize cytogenetic anomalies which could be responsible for the infertility state and which were chiefly seen in patients whose so-called primary infertility was hitherto classified as being of unknown origin. In two patients we thus identified a small additional chromosome in a fraction of the germinal cells, and also an abnormal pairing of all chromosomes, or the sex chromosomes alone, during the first meiotic division.

Biopsy↗