4,168 results on '"chromosome aberration"'
Search Results
2. Comparative carcinogenic and non-carcinogenic health risks, and cytogenotoxicity of wastewaters from natural and artificial fishponds indiscriminately disposed in Nigeria.
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Alabi, Okunola Adenrele, Ashamo, Olufemi M, Akinyanju, Rhema Adedamola, Faleye, Florence Yosola, Afolabi, Tomiwa Amos, Ayeni, Funmilayo Esther, and Adeoluwa, Yetunde Mercy
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ENVIRONMENTAL health ,ANALYSIS of heavy metals ,ONIONS ,CHROMOSOME abnormalities ,FISH ponds - Abstract
As the demand for fish increases, the amount of wastewater generated from fishponds is also increasing with potential environmental and public health effects from their indiscriminate disposal. This study aimed at comparative analyses of the physicochemical and heavy metal constituents and potential DNA damage by wastewaters from natural and artificial fishponds using Allium cepa assay. A. cepa were grown on 3.13, 6.25, 12.5, 25.0, and 50.0% (v/v; wastewater/tap water) concentrations of each wastewater. At 48 and 72 h, respectively, genotoxic and root growth inhibition analyses were carried out on the exposed onions. The onion root tips exposed to wastewaters showed a significant (P < 0.05) inhibition of root growth and cell division in a concentration-dependent manner. Additionally, chromosomal abnormalities like spindle disturbances, sticky chromosomes, micronucleus, bridges, and binucleated cells were observed in the exposed onions and their induction was higher significantly relative to the negative control. Generally, wastewater from the natural fishpond caused higher chromosomal aberrations than the wastewater from artificial fishpond. It is our belief that the cytotoxicity and genotoxicity observed in the onions were primarily caused by heavy metals like Cr, Cd, Fe, Pb, Cu, and Zn found in the wastewaters. These metals also showed a significant carcinogenic and non-carcinogenic risks in children and adults with Cd as the highest contributor to these detrimental risks. Ingestion route was the major exposure route to the toxic metals in these wastewaters. Wastewater from the natural fishpond showed a higher health risk than the wastewater from the artificial fishpond. These findings suggest that the wastewaters from natural and artificial fishpond contain compounds that might induce cytogenotoxicity in exposed organisms. [ABSTRACT FROM AUTHOR]
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- 2024
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3. Chromosome aberrations cause tumorigenesis through chromosomal rearrangements in a hepatocarcinogenesis rat model.
- Author
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Nakamura, Kenji, Ishii, Yuji, Takasu, Shinji, Namiki, Moeka, Soma, Meili, Takimoto, Norifumi, Matsushita, Kohei, Shibutani, Makoto, and Ogawa, Kumiko
- Abstract
Chromosome aberrations (CAs), a genotoxic potential of carcinogens, are believed to contribute to tumorigenesis by chromosomal rearrangements through micronucleus formation. However, there is no direct evidence that proves the involvement of CAs in tumorigenesis in vivo. In the current study, we sought to clarify the involvement of CAs in chemical carcinogenesis using a rat model with a pure CA‐inducer hepatocarcinogen, acetamide. Whole‐genome analysis indicated that hepatic tumors induced by acetamide treatment for 26–30 weeks showed a broad range of copy number alterations in various chromosomes. In contrast, hepatic tumors induced by a typical mutagen (diethylnitrosamine) followed by a nonmutagen (phenobarbital) did not show such mutational patterns. Additionally, structural alterations such as translocations were observed more frequently in the acetamide‐induced tumors. Moreover, most of the acetamide‐induced tumors expressed c‐Myc and/or MDM2 protein due to the copy number gain of each oncogene. These results suggest the occurrence of chromosomal rearrangements and subsequent oncogene amplification in the acetamide‐induced tumors. Taken together, the results indicate that CAs are directly involved in tumorigenesis through chromosomal rearrangements in an acetamide‐induced hepatocarcinogenesis rat model. [ABSTRACT FROM AUTHOR]
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- 2024
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4. Radon concentration and related employees’ chromosome aberration and micronuclei in subways in a city of Zhejiang Province
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Zhiqiang XUAN, Xinyu HUANG, Zhongjun LAI, Jiadi GUO, Xiaoji HAO, Shunfei YU, Yiyao CAO, Donghang WANG, Duo ZHANG, and Jihua NIE
- Subjects
radon ,subway ,monitoring ,chromosome aberration ,micronuclei ,influencing factor ,Medicine (General) ,R5-920 ,Toxicology. Poisons ,RA1190-1270 - Abstract
BackgroundExcessive radon exposure is considered the second risk factor for lung cancer. Since the opening of the subway in a city of Zhejiang Province, the exposure level of radioactive gas radon in subway stations and its impact on occupational health have become one of the important issues of public concern. ObjectiveTo monitor the radon concentration of subways in a city in Zhejiang Province and explore the effect of radon exposure on chromosome aberration and micronuclei in the working population. MethodsA total of 55 vehicle control rooms of 55 stations affiliated to two different subway lines in a city were measured for one year; the 110 ticket offices and 55 security checkpoints from the same 55 stations were measured from 16 March to 14 June. The radon concentrations were compared by job types, subway lines, and seasons referring to Measurement methods for determination of radon in environmental air (HJ 1212-2021). Peripheral blood lymphocyte chromosome aberration and micronucleus analyses were conducted in 165 subway workers from monitoring sites for three different job types, then the influencing factors were analyzed. The detection methods were adopted from the standards of Test and assessment of chromosomal aberrations on occupational health examinations for radiation workers (GBZ/T 248-2014) and Standard for the method of micronucleus detection in lymphocytes on occupational health examination for radiation workers and exposure dose estimation (GBZ/T 328-2023). ResultsThe radon concentration range of the target subways in Zhejiang Province was 10-320 Bq·m−3, all lower than the national limit (≤400 Bq·m−3). The differences in radon radioactivity levels among different lines, job types, and time segments were statistically significant (P0.05). Chromosome aberration and micronuclei varied by age, subway station seniority, and smoking (P0.05). ConclusionThe radon concentration in the target subway system is at a normal level. The rates of chromosomal aberration and micronucleus formation vary by jobs, but both are lower than the corresponding national limits. Therefore, radon exposure has not yet caused outstanding health impact on the subway workers.
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- 2024
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5. Comprehensive antigenotoxic profile of endemic Cirsium steriolepis Petrak extracts against hydrogen peroxide induced toxicity.
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Bayhan, Hamza, Dogan, Serap, Yilmaz Kardas, Begumhan, Diken, Mehmet Emin, Dirmenci, Tuncay, and Celikler, Serap
- Abstract
Cyto/genotoxicity have been widespread utilized for the safety risk assessment of synthetic/natural chemicals. Plants can protect organisms from harmful effects of xenobiotics. On the other hand, plants can extract toxic molecules from the environment which may disrupt mitosis and cytokinesis. However, the precise role of Cirsium steriolepis during this process is unknown. We showed that steriolepis didn't cause cyto/genotoxicity. Findings showed powerful inhibition in micronucleus formation and they are safe for healthy human lymphocytes in terms of their capacity to generate chromosomal aberrations. They caused significant increases in sister chromatid exchange (SCE) compared to control but they were able to decrease SCE frequency caused by H
2 O2 . Additionally, the antibacterial efficiencies of the samples against Escherichia coli and Staphylococcus aureus were up to 50% of the effectivity of penicillin/streptomycin. Steriolepis was able to protect the organism from the oxidative damage and didn't affect the normal developmental phases of Drosophila melanogaster. [ABSTRACT FROM AUTHOR]- Published
- 2024
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6. Mutagenicity and safety evaluation of Ashwagandha (Withania somnifera) root aqueous extract in different models
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P. Kalaivani, R. Siva, V. Gayathri, and Deepak Langade
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Ashwagandha ,Genotoxicity ,Bacterial reverse mutation ,Chromosome aberration ,Mammalian erythrocyte micronucleus ,Clastogenicity ,Toxicology. Poisons ,RA1190-1270 - Abstract
Withania somnifera (Ashwagandha) also called as Indian ginseng, a revered herb from Indian traditional system of medicine is a rejuvenator and tonic (Rasayana) used for its varied benefits. The roots of ashwagandha exhibit properties like anti-inflammatory, aphrodisiac, anthelmintic, astringent, diuretic, stimulant and thermogenic. However, data of ashwagandha on its mutagenic effects are lacking. In the present study, in-vitro genotoxicity tests were used to evaluate the mutagenic potential of Ashwagandha Root Extract (ARE). Concentrations of 0.156 to 5.00 mg/plate ARE were used for conducting Bacterial reverse mutation test (BRMT). For chromosome aberration (CA) test ARE was used in concentrations of 0.25 to 2.00 mg/ml, and for micronucleus (MN) tests ARE concentrations of 500/1000/2000 mg/kg were used. Acute oral toxicity was conducted in Wistar rats (n = 25) as per the OECD guideline (#423) with doses of 500/1000/2000 mg/kg body weight in male Swiss albino mice for morbidity and mortality for 3 days. The BRMT and CA tests were conducted with and without metabolic activation (S9). The study was approved by the institutional ethics committee (IEC) and institutional animal ethics committee (IAEC). ARE failed to show any mutagenic effects up to a dose of 5 mg/plate in BRMT. Also, ARE did not show any clastogenic activity in doses up to 2 mg/ml in CA test and in micronucleus test up to 2000 mg/kg body weight. These results were observed with and without metabolic activation (S9) under the stated experimental conditions. No mortality, morbidity, or any clinical signs were observed up to 3 days following ARE administration. Ashwagandha root extract failed to show any mortality in doses up to 2000 mg/kg oral dosage and did not show any mutagenic (genotoxic) effects in high concentrations.
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- 2024
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7. Molecular cytogenetic screening of sex chromosome abnormalities in young horse populations.
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Bugno‐Poniewierska, Monika, Jankowska, Magdalena, Raudsepp, Terje, Kowalska, Katarzyna, Pawlina‐Tyszko, Klaudia, and Szmatola, Tomasz
- Abstract
Background: Chromosomal abnormalities occur in the equine population at a rate of approximately 2%. The use of molecular cytogenetic techniques allows a more accurate identification of chromosomal abnormalities, especially those with a low rate of abnormal metaphases, demonstrating that the actual incidence in equine populations is higher. Objectives: Estimation of the number of carriers of karyotypic abnormalities in a sample from a population of young horses of various breeds, using molecular cytogenetic techniques. Study design: Cross‐sectional. Methods: Venous blood samples were collected from 500 young horses representing 5 breeds (Purebred Arabian, Hucul, Polish primitive horse [Konik], Małopolska, Coldblood, Silesian). Chromosomes and DNA were obtained from blood lymphocytes and evaluated by fluorescence in situ hybridisation (FISH) and PCR, using probes and markers for the sex chromosomes and select autosomes. Results: Nineteen horses, 18 mares and 1 stallion, were diagnosed with different chromosomal abnormalities: 17 cases of mosaic forms of sex chromosome aneuploidies with a very low incidence (0.6%–4.7%), one case of a SRY‐negative 64,XY sex reversal mare, and one mare with X‐autosome translocation. The percentage of sex chromosomal aberrations was established as 3.8% in the whole population, 6.08% in females and 0.49% in males. Main limitations: Limited sample size, confined to horses from Poland. Conclusions: The rate of sex chromosomal abnormalities we identified was almost double that reported in previous population studies that used classical chromosome staining techniques. FISH allowed the detection of aneuploid cell lines which had a very low incidence. The FISH technique is a faster and more precise method for karyotype examination; however, it is usually focused on only one or two chromosomes while banding karyotyping includes the entire chromosome set. [ABSTRACT FROM AUTHOR]
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- 2024
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8. Preimplantation Genetic Testing within the Public Healthcare System in Slovenia
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Volk M, Writzl K, Veble A, Jaklič H, Teran N, Prosenc B, Štimpfel M, Virant Klun I, Vrtačnik Bokal E, Ban Frangež H, and Peterlin B
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chromosome aberration ,embryo biopsy ,in vitro fertilization ,monogenic disease ,preimplantation genetic testing ,Genetics ,QH426-470 - Abstract
Preimplantation genetic testing (PGT) is the earliest form of prenatal diagnosis that has become an established procedure for couples at risk of passing a severe genetic disease to their offspring. At UMC Ljubljana, we conducted a retrospective register-based study to present 15 years of PGT service within the public healthcare system in Slovenia. We collected the data of the PGT cycles from 2004 to 2019 and compared clinical outcomes for chromosomal and monogenic diseases using different embryo biopsy and testing approaches. In addition, we assessed the extent to which PGT has become the preferred option compared to classic prenatal diagnostics. We treated 211 couples, 110 with single gene disorder, 88 with structural chromosome rearrangement and 13 for numerical chromosome aberration. There were 375 PGT cycles with oocyte retrieval, while embryo transfer was possible in 263 cases resulting in 78 deliveries and 84 children. Altogether, the clinical pregnancy rate per embryo transfer was 31% in 2004–2016 (blastomere biopsy) and 43% in 2017–19 (blastocyst biopsy), respectively. We assessed that approximately a third of couples would opt for PGT, while the rest preferred natural conception with prenatal diagnosis. Our results show that providing a PGT service within the public healthcare system has become a considerable option in pregnancy planning for couples at risk of transmitting a severe genetic disease to their offspring. In Slovenia, approximately a third of couples would opt for PGT. Although the number of cycles is small, our clinical results are comparable to larger centres.
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- 2024
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9. Symbiotic microbial communities in various locations of the lung cancer respiratory tract along with potential host immunological processes affected.
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Jiuling Cheng, Lujia Zhou, and Huaqi Wang
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LUNG cancer ,SMALL cell lung cancer ,NON-small-cell lung carcinoma ,MICROBIAL communities ,CHRONIC obstructive pulmonary disease - Abstract
Lung cancer has the highestmortality rate among all cancers worldwide. The 5-year overall survival rate for non-small cell lung cancer (NSCLC) is estimated at around 26%, whereas for small cell lung cancer (SCLC), the survival rate is only approximately 7%. This disease places a significant financial and psychological burden on individuals worldwide. The symbiotic microbiota in the human body has been significantly associated with the occurrence, progression, and prognosis of various diseases, such as asthma, chronic obstructive pulmonary disease (COPD), and cystic fibrosis. Studies have demonstrated that respiratory symbiotic microorganisms and their metabolites play a crucial role in modulating immune function and contributing to the pathophysiology of lung cancer through their interactions with the host. In this review, we provide a comprehensive overview of the microbial characteristics associated with lung cancer, with a focus on the respiratory tract microbiota from different locations, including saliva, sputum, bronchoalveolar lavage fluid (BALF), bronchial brush samples, and tissue. We describe the respiratory tract microbiota's biodiversity characteristics by anatomical region, elucidating distinct pathological features, staging, metastasis, host chromosomal mutations, immune therapies, and the differentiated symbiotic microbiota under the influence of environmental factors. Our exploration investigates the intrinsic mechanisms linking the microbiota and its host. Furthermore, we have also provided a comprehensive review of the immune mechanisms by whichmicrobiota are implicated in the development of lung cancer. Dysbiosis of the respiratory microbiota can promote or inhibit tumor progression through various mechanisms, including DNA damage and genomic instability, activation and regulation of the innate and adaptive immune systems, and stimulation of epithelial cells leading to the upregulation of carcinogenesisrelated pathways. [ABSTRACT FROM AUTHOR]
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- 2024
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10. Fluorescence In Situ Hybridization-Based Chromosome Aberration Analysis Unveils the Mechanistic Basis for Boron-Neutron Capture Therapy's Radiobiological Effectiveness.
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Elia, Valerio Cosimo, Fede, Francesca, Bortolussi, Silva, Cansolino, Laura, Ferrari, Cinzia, Formicola, Emilia, Postuma, Ian, and Manti, Lorenzo
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BORON-neutron capture therapy ,CHROMOSOME abnormalities ,CHROMOSOME analysis ,LINEAR energy transfer ,NUCLEAR reactions ,CHROMOSOMES ,KARYOTYPES - Abstract
Boron-Neutron Capture Therapy (BNCT) is a tumor-selective radiotherapy, based on the nuclear capture reaction
10 B(n,α)7 Li producing short range α-particles and recoiling7 Li nuclei exclusively confined to boron-enriched cancer cells. These particles possess high Linear Energy Transfer (LET) and mainly generate clustered DNA strand breaks, which are less faithfully restored by intracellular repair. Mis-rejoined breaks yield chromosome aberrations (CAs), which, for high-LET radiation, are more complex in nature than after sparsely ionizing photons/electrons used in conventional radiotherapy, which leads to increased cell-killing ability. However, such a radiobiological tenet of BNCT has been scantily studied at the DNA level. Therefore, the aim of this work was to evaluate CAs induced by BNCT in comparison to X-rays in genomically stable normal human epithelial mammary MCF10A cells. Two Fluorescence In Situ Hybridization (FISH)-based techniques were applied to calyculin A-induced prematurely condensed chromosomes: Whole Chromosome Painting and multicolor(m)-FISH. Not only did BNCT induce a greater CA frequency than X-ray irradiation, but m-FISH karyotype-wide analysis confirmed that CAs following BNCT exhibited a much higher degree of complexity compared to X-rays. To our knowledge, this is the first time that such evidence supporting the radiobiological superiority of BNCT has been shown. [ABSTRACT FROM AUTHOR]- Published
- 2024
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11. Genotoxicity and acute toxicity of 2-amino-5-benzylthiazole in complex with polymeric nanocarrier in Allium bioassay
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Yaryna Shalai, Khrystyna Savaryn, Marta Ilkiv, Yurii Ostapiuk, Nataliya Mitina, Oleksandr Zaichenko, Vira Budzyn, and Andriy Babsky
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thiazole derivative ,polymeric nanocarrier ,genotoxicity ,chromosome aberration ,allium cepa ,Biology (General) ,QH301-705.5 - Abstract
Background. The search for optimal methods of selective and integral determination of various cytotoxic compounds in biological fluids and tissues, which would have high sensitivity and allow for quick and reliable assessment and detection of potentially cytotoxic components of substances with biologically active action, remains relevant today. It is known that chemotherapeutic agents can be released into the environment (air, surface water, sediments and soil) and cause adverse consequences (impact on the stability of ecosystems due to reduced viability of species). The aim of this work was to investigate the effect of thiazole derivative N-(5-benzyl-1,3-thiazol-2-yl)-3,5-dimethyl1-benzofuran-2-carboxamide (BF1) conjugated with PEG-based polymeric nanoparticles (PEG-PN – Th1) on genotoxicity and acute toxicity in allium bioassay. Materials and Methods. Allium cepa ana-telophase assay was applied to monitor genotoxicity of the studied compounds. The acute toxic effects such as inhibition of cell division, seed germination and growth of Allium roots were estimated. A. cepa seeds (15 per each point) were germinated on the studied solutions of BF1, Th1 and Th2 (10 μM) for 5 days at 22 °C. The root growth and the percentage of inhibition of seed germination were calculated. In order to establish cyto- and genotoxicity of the studied compounds, we have determined the mitotic index and the relative amount of chromosomal aberrations. Results. BF1 had a significant inhibitory effect on root growth and seed germination at a concentration of 10 μM. The effect was eliminated when it was influenced by BF1 complex with a polymeric carrier. The free polymer does not have a negative effect on the studied parameters either. A significant decrease in the mitotic index and increase in the percentage of chromosomal aberrations was observed under the action of BF1 at a concentration of 10 µM. There was no significant change in the value of mitoitic index and percentage of chromosomal aberrations under the action of Th2 complex or polymeric carrier Th1. Conclusions. The thiazole derivative in complex with a polymeric carrier at a concentration of 10 µM did not show acute toxicity in Allium cepa bioassay. Polymer carrier based on polyethylene glycol neutralized the negative effect of BF1 on the mitotic and phase indices of Allium root meristem cells; it also decreased the percentage of chromosomal aberrations.
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- 2023
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12. Risk factor analysis for adverse prognosis of the fetal ventricular septal defect (VSD)
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Wang Shan, Xia Yuanqing, Zhu Jing, Wu Xi, Guo Huifeng, and Wu Yi
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Congenital heart disease ,Ventricular septal defect ,Prenatal diagnosis ,Chromosome aberration ,Defect size, Defect location, Fetal outcome ,Gynecology and obstetrics ,RG1-991 - Abstract
Abstract Background Ventricular septal defect (VSD) is the most common subtype of congenital heart disease. In the present study, we aimed to determine whether chromosome aberration was associated with the occurrence of VSD and evaluate the association of VSD size, location and chromosome aberration with adverse outcomes in the Chinese fetuses. Methods Fetuses with VSD and comprehensive follow-up data were included and evaluated retrospectively. Medical records were used to collect epidemiological data and foetal outcomes. For VSD fetuses, conventional karyotype and microarray analysis were conducted. After adjusting confounding factors by using multivariable logistic regression analyses, the association between chromosome variations and VSD occurrence was explored. The association between defect size, location and chromosome aberrations and adverse foetal outcomes was also investigated. Results Chromosome aberration was the risk factor for VSD occurrence, raising 6.5-fold chance of developing VSD. Chromosome aberration, peri-membranous site and large defect size of VSD were significant risk factors of adverse fetal outcome. Chromosome aberrations, including pathogenic copy number variations (CNVs) and variations of uncertain significance (VUS), were both risk factors, increasing the risk of the adverse fetal outcome by 55.9 times and 6.7 times, respectively. The peri-membranous site would increase 5.3-fold risk and defects larger than 5 mm would increase the 7.1-fold risk for poor fetal outcome. Conclusions The current investigation revealed that chromosomal abnormalities, large defects, and the peri-membranous site were all risk factors for poor fetal outcomes. Our study also indicated that chromosome aberration was one of risk factors for the VSD occurrence.
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- 2023
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13. Genotoxicity analysis and identification of citrinin based on a systematic literature search
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WANG Kexin, TAN Jianbin, LI Qing, CHEN Bifeng, and ZHAO Min
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citrinin ,genotoxicity ,gene mutation ,chromosome aberration ,dna damage ,Food processing and manufacture ,TP368-456 ,Nutrition. Foods and food supply ,TX341-641 - Abstract
Citrinin (CIT) is a mycotoxin produced by several species of the genera Aspergillus, Penicillium, and Monascus, and it often contaminates grains and grain products. CIT shows clear nephrotoxicity, while its carcinogenicity evidence is insufficient. Considering the ability of genotoxicity tests to screen chemicals for potential carcinogenicity, the genotoxicity of CIT was reviewed from the perspective of three genetic endpoints, including genetic mutation, chromosomal aberrations, and DNA damage. CIT is a genotoxic substance that induces chromosomal aberrations. The mechanism may be related to its influence on tubulin polymerization and spindle formation during cellular mitosis, thereby causing cell cycle blocking. This study provides basic data for follow-up risk assessments of CIT.
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- 2023
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14. Preimplantation Genetic Testing within the Public Healthcare System in Slovenia.
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Volk, M, Writzl, K, Veble, A, Jaklič, H, Teran, N, Prosenc, B, Štimpfel, M, Virant Klun, I, Vrtačnik Bokal, E, Ban Frangež, H, and Peterlin, B
- Subjects
- *
GENETIC testing , *BLASTOCYST , *CHROMOSOMAL rearrangement , *CHROMOSOME abnormalities , *EMBRYO transfer , *OOCYTE retrieval - Abstract
Preimplantation genetic testing (PGT) is the earliest form of prenatal diagnosis that has become an established procedure for couples at risk of passing a severe genetic disease to their offspring. At UMC Ljubljana, we conducted a retrospective register-based study to present 15 years of PGT service within the public healthcare system in Slovenia. We collected the data of the PGT cycles from 2004 to 2019 and compared clinical outcomes for chromosomal and monogenic diseases using different embryo biopsy and testing approaches. In addition, we assessed the extent to which PGT has become the preferred option compared to classic prenatal diagnostics. We treated 211 couples, 110 with single gene disorder, 88 with structural chromosome rearrangement and 13 for numerical chromosome aberration. There were 375 PGT cycles with oocyte retrieval, while embryo transfer was possible in 263 cases resulting in 78 deliveries and 84 children. Altogether, the clinical pregnancy rate per embryo transfer was 31% in 2004–2016 (blastomere biopsy) and 43% in 2017–19 (blastocyst biopsy), respectively. We assessed that approximately a third of couples would opt for PGT, while the rest preferred natural conception with prenatal diagnosis. Our results show that providing a PGT service within the public healthcare system has become a considerable option in pregnancy planning for couples at risk of transmitting a severe genetic disease to their offspring. In Slovenia, approximately a third of couples would opt for PGT. Although the number of cycles is small, our clinical results are comparable to larger centres. [ABSTRACT FROM AUTHOR]
- Published
- 2023
- Full Text
- View/download PDF
15. In vitro screening of genotoxicity and mutagenicity of pyriproxyfen in human lymphocytes and Salmonella typhimurium TA98 and TA100 strains.
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Bugda, Havva, Guven Ezer, Banu, and Rencuzogullari, Eyyup
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SALMONELLA typhimurium , *GENETIC toxicology , *PYRIPROXYFEN , *CHROMOSOME abnormalities , *INSECT larvae , *INSECT development - Abstract
Pyriproxyfen (PPX) is a pesticide/larvicide used to increase productivity in agriculture against insects by inhibiting development of insects' larvae. In this study, cytotoxic, genotoxic, and mutagenic effects of PPX were investigated in human peripheral lymphocytes and Salmonella typhimurium strains by performing chromosomal aberration, micronucleus (MN) tests, and Ames test, respectively. For the chromosome aberration (CA) and MN methods, blood from four healthy donors (two men and two women, nonsmokers) were used. Two hundred microliters of blood was inoculated into PbMax medium and prepared according to International Guidelines. For the Ames test, S. typhimurium TA98 and TA100 strains were used to detect frameshift and base pair substitution mutagens, respectively. PPX induced both the CA percentage and MN frequency in human peripheral lymphocytes and exhibited cytotoxic effects. In addition, it showed a mutagenic effect at all doses in TA98 and TA100 strains in the presence of S9mix; however, no such effect was observed in the absence of S9mix. According to the obtained results, it can be said that PPX has genotoxic and mutagenic potentials. [ABSTRACT FROM AUTHOR]
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- 2023
- Full Text
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16. Contribution of radioactive particles to the post-explosion exposure of atomic bomb survivors implied from their stable chromosome aberration rates
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Megu Ohtaki, Keiko Otani, and Hiroshi Yasuda
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atomic bomb survivors ,chromosome aberration ,dosimetry ,neutron activation ,radioactive particles ,residual radiation exposure ,Public aspects of medicine ,RA1-1270 - Abstract
Even today when nearly 80 years have passed after the atomic bomb (A-bomb) was dropped, there are still debates about the exact doses received by the A-bomb survivors. While initial airborne kerma radiation (or energy spectrum of emitted radiation) can be measured with sufficient accuracy to assess the radiation dose to A-bomb survivors, it is not easy to accurately assess the neutron dose including appropriate weighting of neutron absorbed dose. Particularly, possible post-explosion exposure due to the radioactive particles generated through neutron activation have been almost neglected so far, mainly because of a large uncertainty associated to the behavior of those particles. However, it has been supposed that contribution of such non-initial radiation exposure from the neutron-induced radioactive particles could be significant, according to the findings that the stable chromosomal aberration rates which indicate average whole-body radiation doses were found to be more than 30% higher for those exposed indoors than for those outdoors even at the same initial dose estimated for the Life Span Study. In this Mini Review article, the authors explain that such apparently controversial observations can be reasonably explained by assuming a higher production rate of neutron-induced radioactive particles in the indoor environment near the hypocenter.
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- 2024
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17. Uniparental disomy: expanding the clinical and molecular phenotypes of whole chromosomes.
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Qi Chen, Yunpeng Chen, Lin Shi, Ying Tao, Xiaoguang Li, Xiaolan Zhu, Yan Yang, and Wenlin Xu
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HOMOZYGOSITY ,CHROMOSOMES ,GENOMIC imprinting ,HOMOLOGOUS chromosomes ,ADULT respiratory distress syndrome ,PHENOTYPES - Abstract
Uniparental disomy (UPD) refers to as both homologous chromosomes inherited from only one parent without identical copies from the other parent. Studies on clinical phenotypes in UPDs are usually focused on the documented UPD 6, 7, 11, 14, 15, and 20, which directly lead to imprinting disorders. This study describes clinical phenotypes and genetic findings of three patients with UPD 2, 9, and 14, respectively. Chromosomal microarray (CMA), UPDtool, methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) and wholeexome sequencing (WES) analysis were performed to characterize the genetic etiology. The CMA revealed a homozygous region involving the whole chromosome 2 and 9, a partial region of homozygosity in chromosome 14. UPD-tool revealed a paternal origin of the UPD2. MS-MLPA showed hypomethylation of imprinting gene MEG3 from maternal origin in the UPD14 case. In addition, UPD14 case displayed complex symptoms including growth failure, hypotonia and acute respiratory distress syndrome (ARDS), accompanied by several gene mutations with heterozygous genotype by WES analysis. Furthermore, we reviewed the documented UPDs and summarized the clinical characteristics and prognosis. This study highlighted the importance to confirm the diagnosis and origin of UPD using genetic testing. Therefore, it is suggested that expanding of the detailed phenotypes and genotypes provide effective guidance for molecule testing and genetic counseling, and promote further biological investigation to the underlying mechanisms of imprinted disorders and accompanied copy number variations. [ABSTRACT FROM AUTHOR]
- Published
- 2023
- Full Text
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18. Risk factor analysis for adverse prognosis of the fetal ventricular septal defect (VSD).
- Author
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Shan, Wang, Yuanqing, Xia, Jing, Zhu, Xi, Wu, Huifeng, Guo, and Yi, Wu
- Subjects
- *
VENTRICULAR septal defects , *CHROMOSOME abnormalities , *FACTOR analysis , *CONGENITAL heart disease , *RISK assessment , *LOGISTIC regression analysis - Abstract
Background: Ventricular septal defect (VSD) is the most common subtype of congenital heart disease. In the present study, we aimed to determine whether chromosome aberration was associated with the occurrence of VSD and evaluate the association of VSD size, location and chromosome aberration with adverse outcomes in the Chinese fetuses. Methods: Fetuses with VSD and comprehensive follow-up data were included and evaluated retrospectively. Medical records were used to collect epidemiological data and foetal outcomes. For VSD fetuses, conventional karyotype and microarray analysis were conducted. After adjusting confounding factors by using multivariable logistic regression analyses, the association between chromosome variations and VSD occurrence was explored. The association between defect size, location and chromosome aberrations and adverse foetal outcomes was also investigated. Results: Chromosome aberration was the risk factor for VSD occurrence, raising 6.5-fold chance of developing VSD. Chromosome aberration, peri-membranous site and large defect size of VSD were significant risk factors of adverse fetal outcome. Chromosome aberrations, including pathogenic copy number variations (CNVs) and variations of uncertain significance (VUS), were both risk factors, increasing the risk of the adverse fetal outcome by 55.9 times and 6.7 times, respectively. The peri-membranous site would increase 5.3-fold risk and defects larger than 5 mm would increase the 7.1-fold risk for poor fetal outcome. Conclusions: The current investigation revealed that chromosomal abnormalities, large defects, and the peri-membranous site were all risk factors for poor fetal outcomes. Our study also indicated that chromosome aberration was one of risk factors for the VSD occurrence. [ABSTRACT FROM AUTHOR]
- Published
- 2023
- Full Text
- View/download PDF
19. Simultaneous Exposure of Cultured Human Lymphoblastic Cells to Simulated Microgravity and Radiation Increases Chromosome Aberrations.
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Yamanouchi, Sakuya, Rhone, Jordan, Mao, Jian-Hua, Fujiwara, Keigi, Saganti, Premkumar B, Takahashi, Akihisa, and Hada, Megumi
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chromosome aberration ,lymphoblast ,microgravity ,space radiation - Abstract
During space travel, humans are continuously exposed to two major environmental stresses, microgravity (μG) and space radiation. One of the fundamental questions is whether the two stressors are interactive. For over half a century, many studies were carried out in space, as well as using devices that simulated μG on the ground to investigate gravity effects on cells and organisms, and we have gained insights into how living organisms respond to μG. However, our knowledge on how to assess and manage human health risks in long-term mission to the Moon or Mars is drastically limited. For example, little information is available on how cells respond to simultaneous exposure to space radiation and μG. In this study, we analyzed the frequencies of chromosome aberrations (CA) in cultured human lymphoblastic TK6 cells exposed to X-ray or carbon ion under the simulated μG conditions. A higher frequency of both simple and complex types of CA were observed in cells exposed to radiation and μG simultaneously compared to CA frequency in cells exposed to radiation only. Our study shows that the dose response data on space radiation obtained at the 1G condition could lead to the underestimation of astronauts' potential risk for health deterioration, including cancer. This study also emphasizes the importance of obtaining data on the molecular and cellular responses to irradiation under μG conditions.
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- 2020
20. 2020--2021 年沈阳市386 名放射诊疗医务 人员健康状况调查.
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付丽丽, 那向杰, 段潇潇, and 王丽东
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- *
BLOOD cell count , *MEDICAL personnel , *CHROMOSOME abnormalities , *LYMPHOCYTE count , *MULTIPLE regression analysis - Abstract
To investigate the effects of low -dose ionizing radiation on the health of radiological medical staff. Methods A total of 386 radiological medical staff who underwent occupational health examinations at the Liaoning Provincial Center for Disease Control and Prevention from 2020 to 2021 were studied, and 174 staff who recently participated in the preand post -transfer health examinations for radiological posts were selected as the reference group. The blood cell counts, peripheral blood lymphocyte chromosome aberrations, and micronucleus rates of the two groups were analyzed. Results The lymphocyte count of the radiation workers was lower than that of the reference group, and the chromosome aberration rate and abnormality rate, micronucleus rate, and abnormality rate were higher than those of the reference group (P < 0.01). The results of multiple linear regression analysis showed that compared with the radiological medical staff who operated in separate rooms or male radiological medical staff, the lymphocyte count of the interventional therapists who operated in the same room near the table and female radiological medical staff was reduced (茁= - 0.182, - 0.159, P < 0.05); with the increase in working time, the lymphocyte count of radiological medical staff also decreased (茁= - 0.008, P < 0.05). The results of Poisson regression analysis showed that compared with the radiological medical staff who operated in separate rooms, the chromosome aberration rate and micronucleus rate of the interventional therapists increased (RR = 4.078, 1.359, P < 0.05); with the increase of working years, the chromosome aberration rate and micronucleus rate of the radiological medical staff also increased (RR = 1.050, 1.024, P < 0.05). Conclusions Long -term low -dose ionizing radiation had varying degrees of impact on lymphocyte count, peripheral blood lymphocyte chromosome aberration, and the micronucleus of radiological medical staff. Further occupational health monitoring should be strengthened for radiological medical staff engaged in interventional therapy to reduce radiation damage. [ABSTRACT FROM AUTHOR]
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- 2023
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21. Genotoxicity of a synthetic plant growth regulator, Forchlorfenuron (CPPU), on human lymphocytes using chromosome aberration assay
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Ayşe Yavuz Kocaman and Berna Yakar
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Forchlorfenuron ,CPPU ,synthetic plant growth regulator ,chromosome aberration ,mitotic index ,human lymphocytes ,Biology (General) ,QH301-705.5 ,Cytology ,QH573-671 - Abstract
Forchlorfenuron (FCF, also known as CPPU), which belongs to the group of phenylurea cytokinins, is one of the most widely used synthetic plant growth regulators (PGRs) worldwide. Although FCF plays a crucial role in cellular growth and differentiation by promoting cell division in plants, it disrupts higher-order septin assembly in other eukaryotic organisms, including humans. Despite its widespread use, no study has been found investigating the genotoxic effects of this synthetic PGR on humans. Hence, this investigation was designed to examine the potential cyto-genotoxicity of a commercial formulation of FCF on human peripheral blood lymphocytes (PBLs) using chromosome aberrations (CAs) and mitotic index (MI) endpoints. The whole blood cultures were treated with 0.25, 0.50, 1.00, and 2.00 µg/ml concentrations of a commercial form of FCF. According to the results, FCF significantly enhanced the percentage of cells containing structural CAs at the concentrations of 1.00 and 2.00 µg/ml for both treatment times (24 and 48 h), in comparison to the negative control (P
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- 2023
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22. Modeling of ionizing radiation-induced chromosome aberration and tumor prevalence based on two classes of DNA double-strand breaks clustering in chromatin domains
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Lei Zhao, Aiping Tang, Fei Long, Dong Mi, and Yeqing Sun
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Ionizing radiation ,Chromosome aberration ,Tumor prevalence ,Non-targeted effect ,Radiobiological model ,Relative biological effectiveness ,Environmental pollution ,TD172-193.5 ,Environmental sciences ,GE1-350 - Abstract
There has been some controversy over the use of radiobiological models when modeling the dose-response curves of ionizing radiation (IR)-induced chromosome aberration and tumor prevalence, as those curves usually show obvious non-targeted effects (NTEs) at low doses of high linear energy transfer (LET) radiation. The lack of understanding the contribution of NTEs to IR-induced carcinogenesis can lead to distinct deviations of relative biological effectiveness (RBE) estimations of carcinogenic potential, which are widely used in radiation risk assessment and radiation protection. In this work, based on the initial pattern of two classes of IR-induced DNA double-strand breaks (DSBs) clustering in chromatin domains and the subsequent incorrect repair processes, we proposed a novel radiobiological model to describe the dose-response curves of two carcinogenic-related endpoints within the same theoretical framework. The representative experimental data was used to verify the consistency and validity of the present model. The fitting results indicated that, compared with targeted effect (TE) and NTE models, the current model has better fitting ability when dealing with the experimental data of chromosome aberration and tumor prevalence induced by multiple types of IR with different LETs. Notably, the present model without introducing an NTE term was adequate to describe the dose-response curves of IR-induced chromosome aberration and tumor prevalence with NTEs in low-dose regions. Based on the fitting parameters, the LET-dependent RBE values were calculated for three given low doses. Our results showed that the RBE values predicted by the current model gradually decrease with the increase of doses for the endpoints of chromosome aberration and tumor prevalence. In addition, the calculated RBE was also compared with those evaluated from other models. These analyses show that the proposed model can be used as an alternative tool to well describe dose-response curves of multiple carcinogenic-related endpoints and effectively estimate RBE in low-dose regions.
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- 2023
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23. Linking Benzene, in Utero Carcinogenicity and Fetal Hematopoietic Stem Cell Niches: A Mechanistic Review.
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Yusoff, Nur Afizah, Abd Hamid, Zariyantey, Budin, Siti Balkis, and Taib, Izatus Shima
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- *
STEM cell niches , *HEMATOPOIETIC stem cells , *FETUS , *CARCINOGENICITY , *BENZENE , *FETAL abnormalities - Abstract
Previous research reported that prolonged benzene exposure during in utero fetal development causes greater fetal abnormalities than in adult-stage exposure. This phenomenon increases the risk for disease development at the fetal stage, particularly carcinogenesis, which is mainly associated with hematological malignancies. Benzene has been reported to potentially act via multiple modes of action that target the hematopoietic stem cell (HSCs) niche, a complex microenvironment in which HSCs and multilineage hematopoietic stem and progenitor cells (HSPCs) reside. Oxidative stress, chromosomal aberration and epigenetic modification are among the known mechanisms mediating benzene-induced genetic and epigenetic modification in fetal stem cells leading to in utero carcinogenesis. Hence, it is crucial to monitor exposure to carcinogenic benzene via environmental, occupational or lifestyle factors among pregnant women. Benzene is a well-known cause of adult leukemia. However, proof of benzene involvement with childhood leukemia remains scarce despite previously reported research linking incidences of hematological disorders and maternal benzene exposure. Furthermore, accumulating evidence has shown that maternal benzene exposure is able to alter the developmental and functional properties of HSPCs, leading to hematological disorders in fetus and children. Since HSPCs are parental blood cells that regulate hematopoiesis during the fetal and adult stages, benzene exposure that targets HSPCs may induce damage to the population and trigger the development of hematological diseases. Therefore, the mechanism of in utero carcinogenicity by benzene in targeting fetal HSPCs is the primary focus of this review. [ABSTRACT FROM AUTHOR]
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- 2023
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24. Fluorescence In Situ Hybridization-Based Chromosome Aberration Analysis Unveils the Mechanistic Basis for Boron-Neutron Capture Therapy’s Radiobiological Effectiveness
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Valerio Cosimo Elia, Francesca Fede, Silva Bortolussi, Laura Cansolino, Cinzia Ferrari, Emilia Formicola, Ian Postuma, and Lorenzo Manti
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BNCT ,BPA ,FISH techniques ,chromosome aberration ,complex DNA damage ,high-LET radiation ,Technology ,Engineering (General). Civil engineering (General) ,TA1-2040 ,Biology (General) ,QH301-705.5 ,Physics ,QC1-999 ,Chemistry ,QD1-999 - Abstract
Boron-Neutron Capture Therapy (BNCT) is a tumor-selective radiotherapy, based on the nuclear capture reaction 10B(n,α)7Li producing short range α-particles and recoiling 7Li nuclei exclusively confined to boron-enriched cancer cells. These particles possess high Linear Energy Transfer (LET) and mainly generate clustered DNA strand breaks, which are less faithfully restored by intracellular repair. Mis-rejoined breaks yield chromosome aberrations (CAs), which, for high-LET radiation, are more complex in nature than after sparsely ionizing photons/electrons used in conventional radiotherapy, which leads to increased cell-killing ability. However, such a radiobiological tenet of BNCT has been scantily studied at the DNA level. Therefore, the aim of this work was to evaluate CAs induced by BNCT in comparison to X-rays in genomically stable normal human epithelial mammary MCF10A cells. Two Fluorescence In Situ Hybridization (FISH)-based techniques were applied to calyculin A-induced prematurely condensed chromosomes: Whole Chromosome Painting and multicolor(m)-FISH. Not only did BNCT induce a greater CA frequency than X-ray irradiation, but m-FISH karyotype-wide analysis confirmed that CAs following BNCT exhibited a much higher degree of complexity compared to X-rays. To our knowledge, this is the first time that such evidence supporting the radiobiological superiority of BNCT has been shown.
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- 2024
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25. Translocations are induced in hematopoietic stem cells after irradiation of fetal mice.
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Hamasaki, Kanya, Matsumoto, Tomoko, Cologne, John, Mukai, Mayumi, Kodama, Yoshiaki, Noda, Asao, and Nakamura, Nori
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FLUORESCENCE in situ hybridization ,FETUS ,HEMATOPOIETIC stem cells ,ATOMIC bomb ,CHROMOSOME abnormalities ,IRRADIATION ,MICE - Abstract
Although mammalian fetuses have been suggested to be sensitive to radiation, an increased frequency of translocations was not observed in blood lymphocytes from atomic bomb (A-bomb) survivors who were exposed to the bomb in utero and examined as adults. Since experiments using hematopoietic cells of mice and rats confirmed this finding, it was hypothesized that either irradiated fetal hematopoietic stem cells (f-HSCs) cannot generate exchange-type chromosomal aberrations or cells bearing induced aberrations are eliminated before the animals reach adulthood. In the present study, pregnant mice (12.5–15.5 days post coitum [dpc]) were irradiated with 2 Gy of X-rays and long-term HSCs (LT-HSCs) were isolated 24 h later. Multicolor fluorescence in situ hybridization (mFISH) analysis of LT-HSC clones proliferated in vitro showed that nine out of 43 (21%) clones from fetuses and 21 out of 41 (51%) clones from mothers bore translocations. These results indicate that cells with translocations can arise in mouse f-HSCs but exist at a lower frequency than in the mothers 24 h after X-ray exposure. Thus, it seems likely that translocation-bearing f-HSCs are generated but subsequently disappear, so that the frequency of lymphocyte translocations may decrease and reach the control level by the time the animals reach adulthood. [ABSTRACT FROM AUTHOR]
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- 2023
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26. Cytogenetic Effects in Patients after Computed Tomography Examination.
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Neronova, Elizaveta and Aleksanin, Sergei
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- *
COMPUTED tomography , *CYTOGENETICS , *CHROMOSOME abnormalities , *IONIZING radiation , *POISSON distribution , *RADIATION exposure , *CHROMOSOMES - Abstract
Millions of people around the world are exposed to low doses of ionizing radiation from diagnostic computed tomography (CT) scans. Currently available data on the potential cancer risk after CT scans are contradictory and therefore demand further investigations. The aim of the current study was to obtain estimations of genome damage after CT scans in 42 non-cancer patients and to conduct a comparison of the results with 22 control subjects. The frequency of dicentric ring chromosomes and chromosome breaks was significantly increased in irradiated patients compared to the controls. The distribution of dicentrics among the cells demonstrated non-Poisson distribution that reflected non-uniform and partial-body radiation exposure. A fraction of patients followed Poisson distribution, which is typical for uniform whole-body exposures. Some patients demonstrated a level of dicentrics similar to the control subjects. The individual variations in the frequency and dicentric distribution suggested complex mechanisms of chromosome aberration induction and elimination that could be associated with individual radiosensitivity, as well as previous diagnostics that used ionizing radiation or the redistribution of small fractions of irradiated lymphocytes within the circulatory pull. In conclusion, CT scans may cause genome damage and possible increases in cancer risk. The introduction of a specific follow-up of such patients, especially in the case of repeated CT scans, is suggested. [ABSTRACT FROM AUTHOR]
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- 2022
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27. Genotoxic effects of gadobutrol and gadoversetamide active substances used in magnetic resonance imaging in human peripheral lymphocytes in vitro.
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Akbas, Ece, Unal, Fatma, and Yuzbasioglu, Deniz
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- *
GENETIC toxicology , *MAGNETIC resonance imaging , *SISTER chromatid exchange , *CONTRAST media , *SUBSTANCE abuse , *CHROMOSOME abnormalities - Abstract
Gadobutrol and gadoversetamide are gadolinium-based contrast agents (GBCAs) widely used during magnetic resonance imaging examination. In this study, the genotoxicity of two GBCAs, gadobutrol and gadoversetamide, was investigated by using different endpoints: chromosome aberration (CAs), sister chromatid exchange (SCEs), and micronucleus (MNi). Human peripheral lymphocytes (PBLs) were treated with five concentrations (7 000, 14 000, 28 000, 56 000, and 112 000 μg/mL) of both agents. While a few concentrations of gadobutrol significantly increased abnormal cell frequency and CA/Cell, nearly all the concentrations of gadoversetamide significantly elevated the same aberrations. Similarly, the effect of gadoversetamide on the formation of SCEs was higher than those of gadobutrol. Only one concentration of gadoversetamide significantly increased MN% but no gadobutrol. The comet assay was applied for the only gadobutrol which induced a significant increase in tail intensity at the highest concentration only. On the other hand, significantly decreased mitotic index (MI) was observed following both substances, again gadoversetamide was slightly higher than those of the gadobutrol. The results revealed that both the contrast agents are likely to induce genotoxic risk in PBLs. However, different concentrations and treatment periods should be examined in vitro and specifically in vivo with different test systems for the safer usage of these contrast agents. [ABSTRACT FROM AUTHOR]
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- 2022
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28. Neoplasia-associated Chromosome Translocations Resulting in Gene Truncation.
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PANAGOPOULOS, IOANNIS and HEIM, SVERRE
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CHROMOSOMES ,CHROMOSOMAL translocation ,GENETIC regulation ,CHIMERIC proteins ,CHROMOSOMAL rearrangement ,CIS-regulatory elements (Genetics) - Abstract
Chromosomal translocations in cancer as well as benign neoplasias typically lead to the formation of fusion genes. Such genes may encode chimeric proteins when two protein-coding regions fuse in-frame, or they may result in deregulation of genes via promoter swapping or translocation of the gene into the vicinity of a highly active regulatory element. A less studied consequence of chromosomal translocations is the fusion of two breakpoint genes resulting in an out-of-frame chimera. The breaks then occur in one or both protein-coding regions forming a stop codon in the chimeric transcript shortly after the fusion point. Though the latter genetic events and mechanisms at first awoke little research interest, careful investigations have established them as neither rare nor inconsequential. In the present work, we review and discuss the truncation of genes in neoplastic cells resulting from chromosomal rearrangements, especially from seemingly balanced translocations. [ABSTRACT FROM AUTHOR]
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- 2022
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29. Molecular Mechanisms of DNA Damage and Repair
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Chang, David S., Lasley, Foster D., Das, Indra J., Mendonca, Marc S., Dynlacht, Joseph R., Chang, David S., Lasley, Foster D., Das, Indra J., Mendonca, Marc S., and Dynlacht, Joseph R.
- Published
- 2021
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30. Chromosomal Aberrations Induced by Calamansi (Citrus microcarpa Bunge) Leaf Extract in Onion (Allium cepa L.) Root Tip Cells
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Cherry Mae Yuto and Lalaine Grace Maghanoy
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allium cepa ,chromosome aberration ,citrus microcarpa ,dosage ,medicinal plant ,Science - Abstract
The genotoxic and cytotoxic effects of aqueous leaf extract of calamansi (Citrus microcarpa Bunge) on the onion (Allium cepa L.) root tip cells were investigated in this study. The onion root tip cells showed decreased mitotic indices when the concentration of the calamansi leaf extracts was increased. Chromosomal aberrations were observed, such as multiple nuclei, strap nucleus, and pyknotic cells in onion root cells treated with varying concentrations. No chromosomal aberration was observed in control (distilled water). These results indicate that intake of medicinal plants with unregulated dosage may cause genetic damage.
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- 2021
31. Association of X Chromosome Aberrations with Male Infertility
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Xharra S., Behluli E., Moder A., Nefic H., Hadziselimovic R., and Temaj G.
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klinefelter syndrome ,azoospermia ,chromosome aberration ,androgen receptors ,y chromosome ,x chromosome ,Medicine - Abstract
Male infertility is caused by spermatogenetic failure, clinically noted as oligoor azoospermia. Approximately 20% of infertile patients carry a genetic defect. The most frequent genetic defect leading to azoospermia (or severe oligozoospermia) is Klinefelter syndrome (47, XXY), which is numerical chromosomal abnormality and Y- structural chromosome aberration. The human X chromosome is the most stable of all human chromosomes. The X chromosome is loaded with regions of acquired, rapidly evolving genes. The X chromosome may actually play an essential role in male infertility and sperm production. Here we will describe X chromosome aberrations, which are associated with male infertility.
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- 2021
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32. Evaluation the Effect of Topiramate on the Induction Genotoxicity in Obesity Patients.
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AL-Quraishe, Fadil Abbas and Abbas, Ahmed Mohammed
- Subjects
- *
CARDIAC amyloidosis , *LYMPHOCYTE count , *SISTER chromatid exchange , *ANTIOBESITY agents , *TOPIRAMATE , *WEIGHT loss , *CHROMOSOME abnormalities , *GENETIC toxicology - Abstract
Topiramate (sulfamate - substituted monosaccharide) a weight loss drug used a pharmacotherapeutic agent for obesity, a study was performed to evaluate the effect of the topiramate to induce chromosome aberrations (CA) and sister chromatid exchange (SCE) in lymphocytes of obesity patients. CA and SCE, a sensitive measure of chromosome damage, were counted in peripheral blood lymphocytes from 32 obesity patients treated with topiramate dose (6 months with 81mg/day, 12 months with 129 mg/day) and 16 healthy person as control group who had never received topiramate and other drugs during the period of the study. All of the treated patients with topiramate, have cells with CA and abnormal SCE frequencies, in analysis, obesity patients, was significantly increased CA in 129mg/day and 81mg/day topiramate dose compared with control (4.08±1.51 and 3.56±1.21) respectively, vs (1.40± 0.81), (P<0.01). Furthermore, a significantly higher SCE/Cell frequency (10.42 ±0.75and 8.75±0.38) in treated obesity patients with 129 mg/day, 81mg/day dose respectively comparison with their control group (5.91±0.31), (P<0.001). The chromosome damage and genotoxics are related to the daily dose and may be determined by the duration of treatment. We conclude the patients treatment with topiramate may be associated with genetic toxicity according to byproducts of drug metabolism. [ABSTRACT FROM AUTHOR]
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- 2022
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33. CHROMOSOMAL ABERRATIONS IN PLANT BIOASSAYS: A REVIEW.
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Saxena, Shalini
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CHROMOSOME abnormalities ,PLANT bioassay ,CELL nuclei ,CHROMOSOME structure ,PROTEIN structure - Abstract
Chromosomes are thread-like components found in the cell nuclei of flora and fauna. Each chromosome is made up of a single DNA molecule and a protein. The purpose of the chromosomal aberration test is to determine whether a test substance can cause architectural gene mutations, such as breaks and exchanges. The chromosomal aberrations have been accepted as an indicator of genetic damage and in particular for those alterations which ultimately lead to mutations. The structural changes in the chromosomes are the result of the breaking and reunion of chromatid segments. The breaking and the reunion cycle produces several abnormalities in the chromosome structure. Allium cepa, a plant species, has been utilized to assess chromosome abnormalities and mitotic cycle disruptions. Today, it is increasingly utilized in environmental monitoring since it has been used to evaluate a large number of genotoxic and antigenotoxic chemicals. Because it is inexpensive, accessible, and easier to handle than other short-term tests, the A. cepa is frequently utilized as a test organism. The detection of chromosomal abnormalities has been the endpoint most frequently utilized over the years to assess cytotoxic effects and antigenotoxicity among A. cepa root chromosomal aberrations. To assess the carcinogenic and mutagenic properties of various plant extracts, the Allium cepa chromosomal abnormality assay is frequently used. Chromosomal aberration in human health has been studied for dates back. Chromosomal aberrations have serious consequences on human health. Many types of human cancer have been found associated with specific and nonspecific chromosomal aberrations. In the present review, higher plants have been selected as a monitoring system. Chromosomal aberrations like binucleate cells, scattered metaphase (SCM), Micronucleus (Mn), nuclear vacuolation (NV), Ring chromosomes at metaphase (RM), Stickiness of Chromosomes at metaphase (STM), Colchicine like metaphase, polarity abolition, laggard formation, Bridge at anaphase have been reported. [ABSTRACT FROM AUTHOR]
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- 2022
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34. Genotoxic And Antigenotoxic Effects Of Corilagin In In Vitro Human Lymphocyte Cultures.
- Author
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TURAN, Elif and TANER, Gökçe
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LYMPHOCYTES ,CELL culture ,GENETIC toxicology ,OXIDATIVE stress ,POLYPHENOLS ,GERANIACEAE - Abstract
Copyright of Erzincan University Journal of Science & Technology is the property of Erzincan Binali Yildirim Universitesi and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
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- 2022
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35. Cytotoxic Evaluation of Eurycoma longifolia Jack Root Extract on Chromosome Aberrations in Human Lymphocytes In vitro.
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Chaiphech, Somkid, Patawang, Isara, Phimphan, Sumalee, Ditcharoen, Sukhonthip, Suwannapoom, Chatmongkon, and Tanomtong, Alongklod
- Subjects
- *
CHROMOSOME abnormalities , *LYMPHOCYTES , *DISTILLED water , *CULTURE media (Biology) , *CHROMATIDS - Abstract
This study aimed to investigate chromosomal aberrations of Eurycoma longifolia Jack (EL) root extract in human lymphocytes in vitro. Human whole blood was cultured in medium solution that treated with distilled water, 20% DMSO, extract of EL roots at the concentration of 2.5, 5, 10, 20, 40, 80 µg/mL (extracted with distilled water and ethanol), and nontreated (blank: only culture medium and whole blood). All experiments were cultured for 72 hours in the 37°C incubator. The effects of EL roots extract on cytotoxicity were compared with the control groups including the blank, distilled water, and 20% DMSO. This study found that EL root extract significantly decreased metaphase cell number and increased chromosome aberrations dose dependent manner (p<0.01). The 7 types of chromosome aberration that were observed consisted of dicentric chromosome, single chromatid breaks, isochromatid break, isochromatid gap, single chromatid gap, fragmentation, and deletion. The dicentric chromosome was the most common chromosomal aberrations type that was treated with EL root extract both distilled water and ethanol. Moreover, the ethanolic extract of EL root was more effective to stimulate chromosome aberrations compared to the water extract of EL root (the deletion and fragmentation were not found in the water extract of EL root). This study demonstrated that the phytochemicals of EL root extract had cytotoxicity effect (decreased metaphase cells and increase cells death) and genotoxic effect (increased chromosomal aberrations. The use of EL root crude extract with distilled water is therefore safer for cells. However, when EL is used at high levels, it may lead to the inhibition of cell division process and cause side effects (toxicity). EL extracts consist of various phytochemicals with different properties and dosages, thus more studies should be conducted on the effect of those substances on cytotoxicity, especially their effects on genotoxicity humans. [ABSTRACT FROM AUTHOR]
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- 2022
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36. Geometrical Properties of the Nucleus and Chromosome Intermingling Are Possible Major Parameters of Chromosome Aberration Formation.
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Poignant, Floriane, Plante, Ianik, Patel, Zarana S., Huff, Janice L., and Slaba, Tony C.
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- *
CHROMOSOME abnormalities , *LINEAR energy transfer , *CHROMOSOMES , *IONIZING radiation , *PARTICLE tracks (Nuclear physics) , *CELL nuclei - Abstract
Ionizing radiation causes chromosome aberrations, which are possible biomarkers to assess space radiation cancer risks. Using the Monte Carlo codes Relativistic Ion Tracks (RITRACKS) and Radiation-Induced Tracks, Chromosome Aberrations, Repair and Damage (RITCARD), we investigated how geometrical properties of the cell nucleus, irradiated with ion beams of linear energy transfer (LET) ranging from 0.22 keV/μm to 195 keV/μm, influence the yield of simple and complex exchanges. We focused on the effect of (1) nuclear volume by considering spherical nuclei of varying radii; (2) nuclear shape by considering ellipsoidal nuclei of varying thicknesses; (3) beam orientation; and (4) chromosome intermingling by constraining or not constraining chromosomes in non-overlapping domains. In general, small nuclear volumes yield a higher number of complex exchanges, as compared to larger nuclear volumes, and a higher number of simple exchanges for LET < 40 keV/μm. Nuclear flattening reduces complex exchanges for high-LET beams when irradiated along the flattened axis. The beam orientation also affects yields for ellipsoidal nuclei. Reducing chromosome intermingling decreases both simple and complex exchanges. Our results suggest that the beam orientation, the geometry of the cell nucleus, and the organization of the chromosomes within are important parameters for the formation of aberrations that must be considered to model and translate in vitro results to in vivo risks. [ABSTRACT FROM AUTHOR]
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- 2022
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37. Placing women in Cytogenetics: Lore Zech and the chromosome banding technique
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Felicitas Söhner and Nils Hansson
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Chromosome painting ,Chromosome aberration ,Biography ,European ,Visibility ,Recognition ,Genetics ,QH426-470 - Abstract
Abstract Background Scholars agree that Torbjörn Caspersson’s lab at the Institute of Medical Cell Research and Genetics at the Karolinska Institute, Sweden, played a key role in the first description of the so-called Q-banding technique. It laid the foundation for a new era of cytogenetic diagnostics and had a lasting impact in several areas of biology and medicine. Methods Based on a mixed-method approach, essential aspects of the history of human cytogenetics are considered via primary and secondary analysis of biographical interviews as well as the qualitative evaluation of bibliometrics. Drawing on interviews with colleagues of lab member Lore Zech (1923–2013) and contemporary publications, this paper illuminates the role of and contribution by Zech: To what extent is the discovery attached to her and what does her legacy look like today? Results The analysis of the contemporary witness interviews with colleagues, students and junior researchers shows that Lore Zech was a committed member of Caspersson's research group. In addition, memoirs by contemporary colleagues describe her outstanding skills in microscopy. The different sources paint a multifaceted picture. In addition to the historians' patterns of interpretation, different legacies can also be found within the peer group. Conclusions We argue that Zech represent the type of scientist who, although her research was acknowledged with several prizes, so far has not been part of the canon of pioneers of international cytogenetics.
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- 2021
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38. Genotoxic and antigenotoxic potential of encapsulated Enhalus acoroides (L. f.) Royle leaves extract against nickel nitrate
- Author
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Made Pharmawati, Ni Nyoman Wirasiti, and Luh Putu Wrasiati
- Subjects
chromosome aberration ,Enhalus acoroides ,heavy metal ,nuclear abnormality ,seagrass ,Biology (General) ,QH301-705.5 ,Cytology ,QH573-671 - Abstract
Several environmental pollutants can cause damage to chromosomes, one of which is the heavy metal NiNO3. Some plant extracts have antigenotoxic properties that resulted in a decrease in chromosomal damage. Member of flowering plants that need to be tested is seagrass. One seagrass species is Enhalus acoroides was found to contain phytochemical compounds. This study aimed to analysed the genotoxic effect and the potential of encapsulated E. acoroides leaf extract as antigenotoxic against nickel nitrate NiNO3. The extraction was conducted using a mixture of chloroform and ethanol and encapsulation of crude extract was done using maltodextrin and tween 80. Chromosomal aberrations were evaluated using the squash technique of Allium cepa var. aggregatum root tips. Triphenyltetrazolium chloride and Evans Blue staining were used to observe mitochondrial and apoptotic activities. The results showed that at higher concentrations the encapsulated E. acoroides extract showed a decrease of mitotic indices, however, there was no chromosome aberration observed. NiNO3 itself induced a genotoxic effect as observed by low mitotic index and a high percentage of chromosome aberration. The modulation of NiNO3 effect by the addition of the encapsulated E. acoroides extract at low concentration increase mitotic indicex but did not reduce chromosome aberration. Simultaneous Ni and encapsulated E. acoroides extract significantly reduce nuclear abnormalities such as nuclear fragmentation, nuclear lesion, and the formation of micronucleus suggesting the potential of the extract as antigenotoxic.
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- 2022
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39. Comparison of biological measurement and physical estimates of space radiation in the International Space Station
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Kayo Yoshida, Megumi Hada, Akane Kizu, Kohei Kitada, Kiyomi Eguchi-Kasai, Toshiaki Kokubo, Takeshi Teramura, Sachiko Yano, Hiromi Hashizume Suzuki, Hitomi Watanabe, Gen Kondoh, Aiko Nagamatsu, Premkumar Saganti, Francis A. Cucinotta, and Takashi Morita
- Subjects
International space station ,Space radiation ,Mouse ES Cells ,Stem cells ,Chromosome aberration ,Risk assessment ,Science (General) ,Q1-390 ,Social sciences (General) ,H1-99 - Abstract
Nowadays, ordinary people can travel in space, and the possibility of extended durations in an environment such as moon of the Earth and Mars with higher space radiation exposures compared to past missions, is increasing. Until now, the physical doses of space radiation have been measured, but measurement of direct biological effects has been hampered by its low dose and low dose-rate effect. To assess the biological effects of space radiation, we launched and kept frozen mouse embryonic stem (ES) cells in minus eighty degree Celsius freezer in ISS (MELFI) on the International Space Station (ISS) for a maximum of 1,584 days. The passive dosimeter for life science experiments in space (PADLES) was attached on the surface of the sample case of the ES cells. The physical dosimeter measured the absorbed dose in water. After return, the frozen cells were thawed and cultured and their chromosome aberrations were analyzed. Comparative experiments with proton and iron ion irradiation were performed at particle accelerators on Earth. The wild-type ES cells showed no differences in chromosomal aberrations between the ground control and ISS exposures. However, we detected an increase of chromosome aberrations in radio-sensitized histone H2AX heterozygous-deficient mouse ES cells and found that the rate of increase against the absorbed dose was 1.54-fold of proton irradiation at an accelerator. On the other hand, we estimated the quality factor of space radiation as 1.48 ± 0.2. using formulas of International Commission of Radiation Protection (ICRP) 60. The relative biological effectiveness (RBE) observed from our experiments (1.54-fold of proton) was almost equal (1.04-fold) to the physical estimation (1.48 ± 0.2). It should be important to clarify the relation between biological effect and physical estimates of space radiation. This comparative study paves a way to reveal the complex radiation environments to reduce the uncertainty for risk assessment of human stay in space.
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- 2022
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40. New cytogenetic data on Caryophyllaeus laticeps and Paracaryophyllaeus gotoi , parasites of evolutionary interest.
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Orosová, Martina, Marková, Anna, Marec, František, Barčák, Daniel, Brázová, Timea, and Oros, Mikuláš
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KARYOTYPES ,FLUORESCENCE in situ hybridization ,INTESTINAL parasites ,PARASITES ,TAPEWORMS ,FISH parasites ,HAZARDOUS waste sites ,CHROMOSOME abnormalities - Abstract
Caryophyllideans are intestinal parasites of freshwater fishes, occupying a basal position among the 'true' tapeworms. We performed detailed cytogenetic analyses of the well-known caryophyllidean species Caryophyllaeus laticeps. For comparison, we also examined for the first time the chromosomes of Paracaryophyllaeus gotoi, a specific parasite of loaches in China. Both species showed a diploid chromosome number of 2n = 20, n = 10m. Chromomycin A
3 (CMA3 )/diamidino-2-phenylindole (DAPI) staining performed for the first time in the class Cestoda revealed CMA3 + /DAPI− bands in the pericentromeric regions of the short arms of chromosome pair no. 7 in the karyotype of C. laticeps. Fluorescence in situ hybridization with the 18S rDNA probe confirmed the presence of a single cluster of major rDNA near the centromere on a pair of small chromosomes in both species. These findings support the hypothesis that the ancestral state in the family Caryophyllaeidae is a single interstitial cluster of major rDNA genes and thus one nucleolar organizer region per haploid genome. Our results, which we presented together with literature data plotted on a phylogenetic tree, show stability of caryophyllidean karyotypes at the genus level, but showed differences between genera without a clear phylogenetic signal. The data allowed us to at least formulate a hypothesis about the ancestral haploid chromosome number of n = 10 for the family Caryophyllaeidae and possibly for the sister family Capingentidae. In addition, we compared two populations of C. laticeps from water bodies with different levels of polychlorinated biphenyl contamination, showing a slightly increased incidence of chromosomal abnormalities at the contaminated site. [ABSTRACT FROM AUTHOR]- Published
- 2022
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41. Assessment of chromosome aberrations in large Japanese field mice (Apodemus speciosus) in Namie Town, Fukushima.
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Fujishima, Yohei, Nakata, Akifumi, Ujiie, Risa, Kasai, Kosuke, Ariyoshi, Kentaro, Goh, Valerie Swee Ting, Suzuki, Kojun, Tazoe, Hirofumi, Yamada, Masatoshi, Yoshida, Mitsuaki A., and Miura, Tomisato
- Subjects
- *
CHROMOSOME abnormalities , *MICROTUS , *APODEMUS , *CHROMOSOME analysis , *NUCLEAR power plants - Abstract
After the Fukushima Daiichi Nuclear Power Plant (FDNPP) accident in Japan on March 11 2011, the surroundings became contaminated with radionuclides. To understand the possible biological effects after chronic low dose-rate radiation in contaminated areas of Fukushima, we assessed the effects in large Japanese field mice (Apodemus speciosus) by means of chromosome aberration analysis. We collected A. speciosus in five sites around Namie Town, Fukushima (contaminated areas) and in two sites in Hirosaki City, Aomori (control areas, 350 km north of FDNPP) from autumn 2011 to 2013. The number of mice captured and ambient dose-rates were as follows: high (n = 11, 10.1–30.0 µGy h−1), moderate (n = 10, 5.7–15.6 µGy h−1), low (n = 12, 0.23–1.14 µGy h−1) and control (n = 20, 0.04–0.07 µGy h−1). After spleen extraction from rodents, spleen cell culture was performed to obtain metaphase spreads. Chromosome aberrations were assessed on Giemsa-stained metaphase spreads. Although the mice in the contaminated areas were chronically exposed, there was no radiation-specific chromosome aberrations observed, such as dicentric chromosomes and rings. Some structural aberrations such as gaps and breaks were observed, and these frequencies decreased annually in mice from Namie Town. These findings suggest that chromosome aberration analysis is useful to evaluate and monitor radiation effects in wild animals. [ABSTRACT FROM AUTHOR]
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- 2022
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42. Effect of Ferrous Gluconate on Chromosomal Abnormality Index of Allium Cepa Root Tip
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Nergis Kaya
- Subjects
allium cepa test ,ferrous gluconate ,genotoxicity ,chromosome aberration ,allium cepa l. ,Agriculture ,Agriculture (General) ,S1-972 - Abstract
In completed research, ferrous gluconate -a food additive- used to preserve black color to prevent discoloration during storage in ripe black olives, and Allium cepa L. species. A. cepa L. roots were treated with different doses of ferrous gluconate. The effective concentration EC50 (0.068 g/l) was determined. A. cepa root tips were treated with EC50/2 (0.034 g/l), EC50 (0.068 g/l), 2XEC50 (0.136 g/l) dose for 24, 48, 72 hours, and afterward, the root tips were prepared for observation under the light microscope according to the method of preparing mitotic preparation. Chromosomal abnormality index (CAI) and genotoxic effect of ferrous gluconate in A. cepa root tip cells were determined. Repeated measurement ANOVA and TUKEY multiple comparison tests were used to investigate the effect of time and dose together on genotoxicity. C-mitosis, polyploidy, polar shifting in anaphase, polar shifting in telophase, equatorial plate shifting, laggard chromosome was observed by microscope. The highest CAI (70.16±4.85) was observed at 72h for 2XEC50 dose. Chromosomal aberration is also observed in control group. While the most common chromosomal aberration is determined as C-mitosis; The least observed chromosomal aberration is determined as polyploidy. Research results revealed that ferrous gluconate has a genotoxic effect on the root tip of A. cepa.
- Published
- 2021
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43. Antigenotoxicity, Cytogenetic Assay measuring Chromosomal Aberration and Antimicrobial Activity of Methanolic Extract of Microalgae: Nannochloropsis oculate
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Sangeetha, P. and Anuradha, V.
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- 2020
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44. Cytotoxic and Genotoxic Effects of Sulfonamide-Aldehyde Derivative in Allium cepa Root Tip Cells
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Halil Erhan Eroğlu, Nisa Gümüş, Mehmet Gümüş, Emre Yağcı, and İrfan Koca
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allium testi ,azo-boyalar ,kromozom kusuru ,mikronükleus ,mitotik i̇ndeks ,allium test ,azo-dyes ,chromosome aberration ,micronucleus ,mitotic index ,Technology ,Engineering (General). Civil engineering (General) ,TA1-2040 ,Science ,Science (General) ,Q1-390 - Abstract
The continuous production and release into the environment of chemicals has revealed the need to determine their cytotoxicity and genotoxicity. Sulfonamide-aldehyde (SA) derivatives, whose biological activity properties vary in a wide spectrum, are frequently used in agriculture, medicine, pharmacy and many other fields. These compounds have an important cycle in the ecological system due to their use and diversity. In the present study, the potential cytotoxic and genotoxic effects of sulfonamide-aldehyde derivative were investigated using Allium test system with the concentrations of 6.25, 12.5, 25, 50, and 100 μM. In A. cepa cells, the increasing concentrations of SA caused cytotoxic effects by inducing nuclear lesions and inhibition of mitotic index. In addition, the increasing concentrations of SA caused genotoxic effects by inducing micronucleus and chromosome aberrations, which the most common ones are C-mitosis, sticky metaphase, and anaphase bridge. The results indicate that the concentration of 25 μM is EC50 in micronucleus, nuclear lesions, and chromosome aberrations; and 50 μM is EC50 in mitotic index (p lt; 0.05).
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- 2021
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45. Anticlastogenic properties of Quercus infectoria galls extract against DMBA induced genotoxicity in bone marrow cells of mice in vivo
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Sherzad I Amedi and Bushra M. Mohammed
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quercus infectoria galls ,anticlastogenic ,mutagenicity ,chromosome aberration ,micronucleus ,Veterinary medicine ,SF600-1100 - Abstract
This study aimed to evaluate the aqueous extract of Quercus infectoria galls extract (QIGE) as anticlastogenic. The effect of QIGE was tested in mice (5 groups for each test) treated with 7, 12-dimethylbenz (a) anthracene (DMBA), the strong site-specific carcinogenic agent. In this study, the QIGE show no signs of toxicity, a single dose of DMBA (50 mg/kg) was injected intraperitoneally to Swiss albino mice caused a great increase in number of chromosomal aberrations, micronucleated polychromatic erythrocytes (MnPCEs) and reduction in the percentage of mitotic index (MI) (cytogenetic markers). Oral pre-treatment and post-treatment of QIGE for 14 days at dose 2 gm/kg b.w. daily to DMBA-treated animals greatly reduced in number of micronucleus formation, chromosomal abnormalities such as chromosomal break, chromatid breaks, ring chromosome, dicentric chromosome and fragments. Besides, mitotic index frequency increased comparing with the positive control. The data suggest that QIGE has potent anti-clastogenic effect against DMBA-induced genotoxicity in bone marrow cells of albino male mice and it may have a protective effect against the mutagenicity of the polynuclear aromatic hydrocarbons (PAH).
- Published
- 2020
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46. Cytogenetic Effects in the Root Meristem Cells of Lettuce Seedlings after Fast Neutron Irradiation (10 Gy) of Seeds and their Modification by Hypomagnetic Conditions during Germination.
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Platova, N. G., Lebedev, V. M., Spassky, A. V., and Trukhanov, K. A.
- Abstract
Abstract—Seeds of lettuce Lactuca sativa L. were irradiated with neutrons with an average energy of 1.6 MeV at a dose of 10 Gy. Irradiation was performed at the end of the limiting time for preserving the conditioned freshness of seeds. The seeds were germinated in a hypomagnetic chamber at a magnetic induction of 1 ×10
3 , 1.4 × 102 , and 2 × 101 nT, which corresponded to the reduction of the geomagnetic field by 5 × 101 , 3.6 × 102 , and up to 2.5 × 103 times, as well as at laboratory conditions (5 × 101 μT). After germinating at hypomagnetic conditions, the percentage of cells with chromosomal aberrations in the root meristem of seedlings grown from irradiated seeds increased at all the considered values of the reduced geomagnetic field. The synergistic effect of factors according to the criterion of cells with chromosomal aberrations and the antagonistic interaction according to the average number of dividing cells at the stages of ana-telophase was noted. [ABSTRACT FROM AUTHOR]- Published
- 2021
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47. Trends in Non-invasive Prenatal Screening and Invasive Testing in Denmark (2000–2019) and Israel (2011–2019)
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Lena Sagi-Dain, Amihood Singer, Olav B. Petersen, Stina Lou, and Ida Vogel
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chromosomal microarray analysis ,chromosome aberration ,prenatal testing ,non-invasive prenatal screening ,invasive testing ,Medicine (General) ,R5-920 - Abstract
Introduction: Following the wide distribution of non-invasive prenatal genetic screening (NIPS), numerous studies have reported a decline in total invasive tests in the recent years, up to 50–70% in some countries. However, in Denmark and Israel we have not experienced these declines. The objective of our study was to evaluate the trends in NIPS and chromosomal microarray analysis (CMA) use in Denmark and Israel.Methods: This retrospective study was performed by data acquisition from the Danish Cytogenetics Central Registry throughout the years 2000–2019, and Israeli Public Health Services, Ministry of Health computerized database (from 2011).Results: Of the 1,243,956 live births registered in Denmark over the years 2000–2019, a relatively steady level of invasive testing around 6% was noted since 2004, as opposed to 13.0% in Israel based on 1,594,962 live births between 2011 and 2019. The average uptake of NIPS was 1.1 ± 0.5% in Denmark vs. 4.3% in Israel (2013–2019). Relatively steady rates of invasive testing were noted in both countries, compared to a slight decline in NIPS in the recent years.Discussion: The recent decrease in the rates of invasive testing in the NIPS era was not observed in Denmark or in Israel. These results imply that Danish and Israeli women and/or health providers might favor the high resolution and yield of CMA testing over the non-invasiveness of NIPS. We explore and discuss this phenomenon, based on five central factors.
- Published
- 2021
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48. Data from Chinese Academy of Medical Sciences Advance Knowledge in Lung Cancer (Occupational Health Risk Recognition, Evaluation, and Management of Radiation Workers In Gansu Province, China).
- Abstract
A study conducted by the Chinese Academy of Medical Sciences in Gansu Province, China, focused on the occupational health risks faced by radiation workers. The research involved monitoring the health of workers in radiological diagnosis and treatment institutions, as well as underground workers in a deep mine iron mine. The study found that workers in interventional radiology and nuclear medicine had higher occupational risks and showed signs of radiation injury. The research concluded that the analysis of chromosome aberration is an important indicator for monitoring the health of radiation workers. [Extracted from the article]
- Published
- 2024
49. Cytogenetic Effects in Patients after Computed Tomography Examination
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Elizaveta Neronova and Sergei Aleksanin
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non-cancer patients ,ionizing radiation ,CT examination ,chromosome aberration ,dicentric ,genotoxic effects ,Science - Abstract
Millions of people around the world are exposed to low doses of ionizing radiation from diagnostic computed tomography (CT) scans. Currently available data on the potential cancer risk after CT scans are contradictory and therefore demand further investigations. The aim of the current study was to obtain estimations of genome damage after CT scans in 42 non-cancer patients and to conduct a comparison of the results with 22 control subjects. The frequency of dicentric ring chromosomes and chromosome breaks was significantly increased in irradiated patients compared to the controls. The distribution of dicentrics among the cells demonstrated non-Poisson distribution that reflected non-uniform and partial-body radiation exposure. A fraction of patients followed Poisson distribution, which is typical for uniform whole-body exposures. Some patients demonstrated a level of dicentrics similar to the control subjects. The individual variations in the frequency and dicentric distribution suggested complex mechanisms of chromosome aberration induction and elimination that could be associated with individual radiosensitivity, as well as previous diagnostics that used ionizing radiation or the redistribution of small fractions of irradiated lymphocytes within the circulatory pull. In conclusion, CT scans may cause genome damage and possible increases in cancer risk. The introduction of a specific follow-up of such patients, especially in the case of repeated CT scans, is suggested.
- Published
- 2022
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50. The association of three DNA repair genes polymorphisms on the frequency of chromosomal alterations detected by fluorescence in situ hybridization.
- Author
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Santiago, Fábio, Silvestre, Rafaele Tavares, Otero, Ubirani Barros, Tabalipa, Marianne Medeiros, de Moura Ribeiro-Carvalho, Marilza, Scherrer, Luciano Rios, Al-Rikabi, Ahmed, Liehr, Thomas, Alves, Gilda, and Ornellas, Maria Helena
- Subjects
- *
FLUORESCENCE in situ hybridization , *GENETIC polymorphisms , *GENE frequency , *DOUBLE-strand DNA breaks , *CARCINOGENS , *CARDIAC amyloidosis , *DNA repair - Abstract
Purpose: Gas station workers (GSWs) are exposed to carcinogenic agents. The aim was to study the association of high somatic chromosome alterations (CAs) rates in the blood of GSWs and the polymorphisms of three genes playing a role in DNA double-strand break repair. Methods: This is a cross-sectional study with 114 GSWs and 115 age-matched controls. Cytogenetic analyses, blood exams, medical interviews and genotypes for RAD51/G135C (rs1801320), ATM/P1054R (rs1800057) and CHEK2/T470C (rs17879961) genes were performed. Results: The CA rate in GSWs was 9.8 CAs/1000 metaphases, and 19.1% of the workers had > 10 CAs per 1000 metaphases (group two). GSWs had decreased levels of monocytes (P = 0.024) in their blood exams. The number of variant alleles of the RAD51/G135C polymorphism was higher in GSWs (P = 0.011) compared to the controls, and were associated with enhanced number of CAs per worker (P = 0.008). No allele variant was found for CHEK2/T470C in this study. Conclusion: The RAD51/G135C polymorphism appears to be related to genome instability in gas station workers. Increasing the knowledge of DNA repair gene variations involved in maintaining genomic stability in GSWs may be crucial for future cancer prevention. [ABSTRACT FROM AUTHOR]
- Published
- 2021
- Full Text
- View/download PDF
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