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Objective: It includes the investigation of the toxic effect of the food preservative benzoic acid during the development of Drosophila melanogaster. Method: Male and female flies of Drosophila melanogaster were exposed to various concentrations of benzoic acid (50–3000 mg/l) in culture medium. Total numbers of pupae and young adults generated in each culture tube were counted for 100 h. Ten randomly selected lacto-acetic-orcein stained polytene chromosomes of the third instar larvae of each group were made to assess chromosomal aberrations. Numbers of hemocytes or neuroblasts in third instar larvae with altered nuclear morphologies were scored in 20 randomly selected DAPI stained cells of each group in a single slide. Results: Benzoic acid acted in a dose dependent manner decreasing the population of pupae and young adults but their significant reductions (*p < 0.05, **p < 0.0001) were noticed under the exposure of the flies to ≥ 250 mg/l of this food additive. Developmental inhibition of the flies was accompanied with significant (*p < 0.05, **p < 0.0001) increase in the number of structural abnormalities (ectopic pairing, inversion loops, chromosomal shrinkage, breakage, fusion and asynapsis) of the larval polytene chromosomes due to benzoic acid ≥ 250 mg/l. DAPI staining of the nuclei of larval hemocytes and neuroblasts revealed their significant (*p < 0.05, **p < 0.0001) structural alterations (fragmented, triangular, diffused, spearhead, small globules, etc.) under the dietary exposure of the flies to benzoic acid ≥ 250 mg/l and ≥ 500 mg/l, respectively. Conclusion: Larval Chromosomal abnormalities and damages in the nuclei of the hemocytes and neuroblasts might reflect inhibition of gene expressions that reduced their defensive functions and growth promoting activities. As Drosophila melanogaster possesses substantial similarity with human genome, results of our study emphasize the vulnerability of developing human to this food additive due to maternal dietary intake during pregnancies. [ABSTRACT FROM AUTHOR]

Somatic structural variants (SVs) are important drivers of cancer development and progression. In a diagnostic set-up, especially for hematological malignancies, the comprehensive analysis of all SVs in a given sample still requires a combination of cytogenetic techniques, including karyotyping, FISH, and CNV microarrays. We hypothesize that the combination of these classical approaches could be replaced by optical genome mapping (OGM). Samples from 52 individuals with a clinical diagnosis of a hematological malignancy, divided into simple (<5 aberrations, n = 36) and complex (≥5 aberrations, n = 16) cases, were processed for OGM, reaching on average: 283-fold genome coverage. OGM called a total of 918 high-confidence SVs per sample, of which, on average, 13 were rare and >100 kb. In addition, on average, 73 CNVs were called per sample, of which six were >5 Mb. For the 36 simple cases, all clinically reported aberrations were detected, including deletions, insertions, inversions, aneuploidies, and translocations. For the 16 complex cases, results were largely concordant between standard-of-care and OGM, but OGM often revealed higher complexity than previously recognized. Detailed technical comparison with standard-of-care tests showed high analytical validity of OGM, resulting in a sensitivity of 100% and a positive predictive value of >80%. Importantly, OGM resulted in a more complete assessment than any previous single test and most likely reported the most accurate underlying genomic architecture (e.g., for complex translocations, chromoanagenesis, and marker chromosomes). In conclusion, the excellent concordance of OGM with diagnostic standard assays demonstrates its potential to replace classical cytogenetic tests as well as to rapidly map novel leukemia drivers. [ABSTRACT FROM AUTHOR]

Recurrence of termination of pregnancy (TOP) due to fetal or maternal pathology is an uncommon event, and not always related to the same pathology. We aimed to evaluate the indications leading to recurrent TOP and associated risk factors. Retrospective study of the recurrent cases of TOP conducted between January 2002 and December 2018. A recurrence rate of 2.5% was found in a cohort of 693 women submitted to TOP (17/693). Among the paired cases of recurrent TOP, 65% (11/17) were consequent to a different indication, whereas 35% (6/17) were due to the same cause, mainly related to monogenic diseases. TOP related to chromosomopathy was significantly associated with higher maternal and gestational age. Most of recurrent cases of TOP do not seem related to the same cause. The occurrence of a monogenic disease or polymalformative syndrome should raise the suspicion of recurrence due to the same pathology. [ABSTRACT FROM AUTHOR]

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Industrial effluents contain hazardous substances that can be a serious threat to the agriculture and human health. In the present study, the cytotoxic and genotoxic impacts of agricultural soil from the industrial area of Dera Bassi (Punjab, India) have been evaluated. Assays such as defects in DNA repair in K-12 mutants of Escherichia coli and chromosomal aberrations in Allium cepa were used to estimate the acute toxicity and chromosomal mutagenesis, respectively. Atomic absorption spectrometry and GC-MS analysis revealed contamination of the soil with high concentrations of heavy metals and organic compounds, respectively. Dichloromethane extract of site I soil sample caused maximum damage to 40 μL mL−1 DNA repair defective mutants and showed 38 and 49% survival in lexA and recA mutants, respectively, which was least among all the sites. In A. cepa test, an inverse relationship between soil extract concentration and the mitotic index was observed. Exposure of growing roots of A. cepa to soil extracts induced chromosomal abnormalities and alterations in mitotic phases in root tip cells. The study concludes that agricultural sites near the industrial area were contaminated with genotoxic and mutagenic compounds. Hence, adequate measures should be taken to reduce the toxicity of industrial effluents discharged onto the agricultural fields. [ABSTRACT FROM AUTHOR]

Objective: To analyse natural course and perinatal management in twin pregnancies discordant for digynic triploidy. Case report: We present five cases of twins discordant for digynic triploidy. Pregnancy outcome was known for three of them. In one case, premature rupture of membranes occurred at 20 gestational weeks and both fetuses were miscarried. In two other pregnancies healthy co-twins were born at term after the triploid fetuses demise at 28 and 37 weeks. No maternal complications were observed. Conclusion: Twin pregnancies discordant for triploidy poses a challenge for perinatal management. Expectant management should be considered in digynic triploid cases.

This study was conducted to evaluate whether the application of proline as a potential osmoprotectant at different doses could improve the genotoxic and mutagenic effects caused by plant exposure to cadmium salts. For this purpose, the Comet assay was used, which allows the rapid detection of DNA damage shortly after its occurrence, before the DNA is repaired, as well as the discrimination of the DNA damage limited to specific cells in a heterogeneous population. After treatment of Allium cepa roots with 75µM CdSO4·H2O (Cd sample), a DNA percentage of 35.24% was recorded in the tail. In the samples treated first with proline and then with cadmium (pre-treatment group), the percentage DNA in the tail was reduced by 24.8% compared with the Cd sample. Instead, in the post-treatment group (samples treated first with cadmium and then with proline), the percentage DNA in the tail was reduced by 69.04% compared with the Cd sample. All cadmium treatments induced chromosomal aberrations (CAs). Compared with the CAs values obtained after Cd treatment, the reduction was 75.6% in the pre-treatment group and 55.39% in the post-treatment group. The results of this study highlighted that exogenous application of proline alleviated the genotoxic effect of cadmium.

An evaluation of the ameliorative effect of pomegranate peel extract (PPE) in counteracting the toxicity of iron oxide nanoparticles (Fe2O3-NPs) that cause hepatic tissue damage is focused on herein. Forty male albino mice were haphazardly grouped into four groups as follows: the first control group was orally gavage daily with physiological saline; the second group received 100 mg/kg of PPE by the oral route day after day; the third group received 30 mg/kg Fe2O3-NPs orally; and the fourth group received both PPE and Fe2O3-NPs by the oral route, the same as the second and third sets. Later, after the completion of the experiment, we collected the liver, blood, and bone marrow of bone specimens that were obtained for further laboratory tests. For instance, exposure to Fe2O3-NPs significantly altered serum antioxidant biomarkers by decreasing the levels of total antioxidant capacity (TAC), catalase (CAT), and glutathione s-transferase (GST). Additionally, it caused changes in the morphology of hepatocytes, hepatic sinusoids, and inflammatory Kupffer cells. Furthermore, they significantly elevated the number of chromosomal aberrations including gaps, breaks, deletions, fragments, polyploidies, and ring chromosomes. Moreover, they caused a significant overexpression of TIMP-1, TNF-α, and BAX mRNA levels. Finally, the use of PPE alleviates the toxicity of Fe2O3-NPs that were induced in the hepatic tissues of mice. It is concluded that PPE extract has mitigative roles against the damage induced by Fe2O3-NPs, as it serves as an antioxidant and hepatoprotective agent. The use of PPE as a modulator of Fe2O3-NPs’ hepatotoxicity could be considered as a pioneering method in the use of phytochemicals against the toxicity of nanoparticles.

The effect of the reportedly low ionizing radiation doses, such as those very often delivered to patients in interventional cardiology, remains ambiguous. As interventional cardiac procedures may have a significant impact on total collective effective dose, there are radiation protection concerns for patients and physicians regarding potential late health effects. Given that very low doses (

DNA damage and unrepaired or insufficiently repaired DNA double-strand breaks as well as telomere shortening contribute to the formation of structural chromosomal aberrations (CAs). Non-specific CAs have been used in the monitoring of individuals exposed to potential carcinogenic chemicals and radiation. The frequency of CAs in peripheral blood lymphocytes (PBLs) has been associated with cancer risk and the association has also been found in incident cancer patients. CAs include chromosome-type aberrations (CSAs) and chromatid-type aberrations (CTAs) and their sum CAtot. In the present study, we used data from our published genome-wide association studies (GWASs) and extracted the results for 153 DNA repair genes for 607 persons who had occupational exposure to diverse harmful substances/radiation and/or personal exposure to tobacco smoking. The analyses were conducted using linear and logistic regression models to study the association of DNA repair gene polymorphisms with CAs. Considering an arbitrary cutoff level of 5 × 10–3, 14 loci passed the threshold, and included 7 repair pathways for CTA, 4 for CSA, and 3 for CAtot; 10 SNPs were eQTLs influencing the expression of the target repair gene. For the base excision repair pathway, the implicated genes PARP1 and PARP2 encode poly(ADP-ribosyl) transferases with multiple regulatory functions. PARP1 and PARP2 have an important role in maintaining genome stability through diverse mechanisms. Other candidate genes with known roles for CSAs included GTF2H (general transcription factor IIH subunits 4 and 5), Fanconi anemia pathway genes, and PMS2, a mismatch repair gene. The present results suggest pathways with mechanistic rationale for the formation of CAs and emphasize the need to further develop techniques for measuring individual sensitivity to genotoxic exposure.

Introduction: Conventional cytogenetics by the use of standard karyotyping allows the study of numerical and structural chromosomal aberrations. Haematological malignancies include a number of cancer types that originate in the blood cells of the bone marrow or of the lymphatic system. Cytogenetic methods are traditionally used for the sake of diagnosis and prognosis of these diseases. However, with the ever more frequent use of molecular methods in the diagnostic laboratories, the importance of the conventional cytogenetic analysis in the diagnosis of haematological diseases needs to be reassessed. Aim: To evaluate the role of cytogenetic methods in the diagnosis of haematological malignancies. Materials and Methods: A retrospective analysis of cytogenetic findings of 146 patients with various haematological malignancies was performed. All of the findings were made over a period of three years at the Centre for Genetics at the Medical Faculty of the University of Sarajevo in Bosnia and Herzegovina. Microsoft Excel 2019 was used for the analysis and presentation of data in the form of tables and graphs. Results: The results of the present study showed that the use of conventional cytogenetic analysis is a good diagnostic method for 50.68% (74) of patients in whom chromosomal aberrations were detected. Conclusion: Cytogenetics remains the most comprehensive method for assessing chromosomal abnormalities due to its ability to detect clinically relevant aneuploidies and additional cytogenetic abnormalities that cannot be detected by locusspecific assays.

• Popularity of Cascabela thevetia in traditional medicine, its potential toxicity renders assessment of cytotoxicity/mutagenicity necessary for safe, efficient application. • Efficiency of Allium cepa Test and Vicia faba assay evident in statistically significant alteration of macroscopic and microscopic-MI, CA, MN parameters of genotoxicity. • Differential sensitivity of test systems explicit -higher sensitivity of Allium cepa for MI, CA; higher sensitivity of Vicia faba assay for root growth morphology, CA, MN. • Infusion of leaves and fruits induce sublethal and dose dependent cytotoxicity. Cascabela thevetia (L.) Lippold, a well-known plant of family Apocynaceae is used as traditional medicine, has pharmacologically active constituents, yet is highly toxic, due to high glycoside content in seeds, leaves and fruits. So, an assessment of cytotoxicity/mutagenicity becomes prerequisite for its therapeutic efficacy. Two in vivo test systems - Allium cepa test and Vicia faba assay were used for genotoxicity monitoring; with the macroscopic parameter of root growth and the microscopic parameters of Mitotic Index (MI), chromosomal aberrations (CA) and Micronuclei (MN) of meristematic cells as reliable indicators of toxicity. The aqueous leaf and fruit extract of the plant were found to be significantly cytotoxic at 3mg/ml with all sorts of CA. Significant reduction in MI, abundance of CA, presence of MN after recovery, supported by statistical analyses indicated high/ sub lethal genotoxicity. However, the sensitivity of the two systems varied, with A. cepa being more sensitive to reduction in MI and V. faba being more sensitive for CA specially MN. Thus cautious, appropriate and minimum requisite of the plant should be used in therapeutic applications. [ABSTRACT FROM AUTHOR]

In case of a mass-casualty radiological event, there would be a need for networking to overcome surge limitations and to quickly obtain homogeneous results (reported aberration frequencies or estimated doses) among biodosimetry laboratories. These results must be consistent within such network. Inter-laboratory comparisons (ILCs) are widely accepted to achieve this homogeneity. At the European level, a great effort has been made to harmonize biological dosimetry laboratories, notably during the MULTIBIODOSE and RENEB projects. In order to continue the harmonization efforts, the RENEB consortium launched this intercomparison which is larger than the RENEB network, as it involves 38 laboratories from 21 countries. In this ILC all steps of the process were monitored, from blood shipment to dose estimation. This exercise also aimed to evaluate the statistical tools used to compare laboratory performance. Blood samples were irradiated at three different doses, 1.8, 0.4 and 0 Gy (samples A, C and B) with 4-MV X-rays at 0.5 Gy min−1, and sent to the participant laboratories. Each laboratory was requested to blindly analyze 500 cells per sample and to report the observed frequency of dicentric chromosomes per metaphase and the corresponding estimated dose. This ILC demonstrates that blood samples can be successfully distributed among laboratories worldwide to perform biological dosimetry in case of a mass casualty event. Having achieved a substantial harmonization in multiple areas among the RENEB laboratories issues were identified with the available statistical tools, which are not capable to advantageously exploit the richness of results of a large ILCs. Even though Z- and U-tests are accepted methods for biodosimetry ILCs, setting the number of analyzed metaphases to 500 and establishing a tests' common threshold for all studied doses is inappropriate for evaluating laboratory performance. Another problem highlighted by this ILC is the issue of the dose-effect curve diversity. It clearly appears that, despite the initial advantage of including the scoring specificities of each laboratory, the lack of defined criteria for assessing the robustness of each laboratory's curve is a disadvantage for the 'one curve per laboratory' model. Based on our study, it seems relevant to develop tools better adapted to the collection and processing of results produced by the participant laboratories. We are confident that, after an initial harmonization phase reached by the RENEB laboratories, a new step toward a better optimization of the laboratory networks in biological dosimetry and associated ILC is on the way. [ABSTRACT FROM AUTHOR]

We studied the effect of technogenic radiation on the degree of promoter methylation in genes involved in apoptosis in blood lymphocytes of workers exposed to long-term γ-radiation during their professional activities. Blood samples for the analysis were obtained from 11 conventionally healthy men aged from 54 to 71 years (mean 66 years), workers of the Siberian Group of Chemical Enterprises working experience from 27 to 40 years (mean 30 years); the external exposure dose was 175.88 mSv (158.20-207.81 mSv). In all examined subjects, the degree of methylation of the promoters of apoptosis-related genes ranged from 0.22 to 50.00%. A correlation was found between the degree of methylation of BCLAF1 promoters (p=0.035) with the age of workers, BAX promoters (p=0.0289) with high content of aberrant cells, and APAF1 promoters (p=0.0152) with increased number of dicentric chromosomes. A relationship was found between the dose of external irradiation and the degree of methylation of gene promoters of BAD (p=0.0388), BID (р=0.0426), and HRK (р=0.0101) genes. [ABSTRACT FROM AUTHOR]

By increasing the undesirable side effects of synthetic food pigments on human health, using safe natural food pigment become an urgent issue. Incorporate corn starch with oils conducted a high impact on red pigment production by Monascus purpureus. Fortification the medium with sesame oil raised the pigment production by 80% and the dry mass by 63% compared with free oil medium. Response surface methodology maximizes the production with 114.6% (12.8 A500) using medium constituents (g/l); Sesame oil 5; Corn starch 30; Yeast extract 1.5; KH2PO4 2.5 and MgSO4.7H2O 0.1. After evaluating red pigment stability in three common food components, citric acid showed a great effect on residual stability percentage compared with ascorbic and salicylic acid which decrease slightly the residual stability percentage at light and dark conditions. The mitotic index of red pigment was lower than the negative control at all tested concentrations. Different types of mitotic chromosomal abnormalities e.g. lagging chromosome, chromosomal bridge, chromosome and chromatin fragments, outside chromosome, chromosomal stickiness and micro nuclei were recorded. Insignificant increase in total mitotic aberrations percentage in all tested root tips treated with all concentrations of red pigment (1.23, 1.58, 1.63, 2.32 and 2.40%) compared with negative control (0.91%). There was a significant increase in total aberrations percentage after treatment with all concentrations (10, 15, 20 and 25%) of positive control (2.93, 3.00, 3.55 and 6.53 respectively) except (5%) which was insignificant (2.71%). From the previous data, this red pigment can be used as an alternative safe pigment in the food industry. [ABSTRACT FROM AUTHOR]

In order to increase genetic variability for improvement and better adaptation in the present days' changing climate, present investigation has been done in Andrographis paniculata (Burm. f.) Nees (also known as Kalmegh in Ayurveda), an ethno-medicinal wild plant with highly immune-boosting properties. For the purpose, healthy, dry and homogeneous seeds were treated with four doses of gamma rays from Co-60 sources at the dose rate of 1.55 Gy per second; selected on the basis of LD50 i.e. 25 Gy (gray), 50, 100 and 200 Gy along with one set of non-irradiated seeds and sown in triplicates in a completely randomized block design (CRBD). Higher doses were detrimental hence not suggested for further mutation breeding experiments. However, lower doses (viz. 25 and 50 Gy) of gamma rays were stimulatory; had induced some significant (p > 0.5) variations in several lucrative traits of Andrographis paniculata (Kalmegh) viz. Plant height, leaf area, number of branches per plant, length of internodes, fruit length, and seeds per fruit. Some induced novel mutants (viz. bushy, dark green leaves mutant and tricotyledonous leaf mutant in M2 generation) have also been procured. This is, to the best of our knowledge, first report on induction of tricotyledonous leaf mutant in A. paniculata using gamma rays. [ABSTRACT FROM AUTHOR]

Background: Chronic lymphocytic leukemia (CLL) is the most common form of adult leukemia. This disease is genetically heterogeneous, and approximately 85% of patients with CLL harbor chromosomal aberrations that are considered effective prognostic biomarkers. The most frequent aberrations include deletions in 13q14, followed by trisomy 12, and deletions in 11q22.3 and 17p13 (TP53). Currently, fluorescence in situ hybridization (FISH) is the most widely used molecular cytogenetic technique to detect these aberrations. However, FISH is laborious, time-consuming, expensive, and has a low throughput. In contrast, multiplex ligation-dependent probe amplification (MLPA) is a reliable, cost-effective, and relatively rapid technique that can be used as a first-line screening tool and complement with FISH analysis. This study aimed to evaluate the contributions of MLPA as a routine standalone screening platform for recurrent chromosomal aberrations in CLL in comparison to other procedures. Thirty patients with CLL were screened for the most common genomic aberrations using MLPA with SALSA MLPA probemix P038-B1 CLL and FISH. Results: In 24 of the 30 cases (80%), the MLPA and FISH results were concordant. Discordant results were attributed to a low percentage of mosaicism. Moreover, the MLPA probemix contains probes that target other genomic areas known to be linked to CLL in addition to those targeting common recurrent CLL aberrations. Conclusions: The usage of MLPA as the first screening platform followed by FISH technique for only the negative cases is the most appropriate approach for CLL diagnosis and prognosis. [ABSTRACT FROM AUTHOR]

DNA damage and unrepaired or insufficiently repaired DNA double-strand breaks as well as telomere shortening contribute to the formation of structural chromosomal aberrations (CAs). Non-specific CAs have been used in the monitoring of individuals exposed to potential carcinogenic chemicals and radiation. The frequency of CAs in peripheral blood lymphocytes (PBLs) has been associated with cancer risk and the association has also been found in incident cancer patients. CAs include chromosome-type aberrations (CSAs) and chromatid-type aberrations (CTAs) and their sum CAtot. In the present study, we used data from our published genome-wide association studies (GWASs) and extracted the results for 153 DNA repair genes for 607 persons who had occupational exposure to diverse harmful substances/radiation and/or personal exposure to tobacco smoking. The analyses were conducted using linear and logistic regression models to study the association of DNA repair gene polymorphisms with CAs. Considering an arbitrary cutoff level of 5 × 10–3, 14 loci passed the threshold, and included 7 repair pathways for CTA, 4 for CSA, and 3 for CAtot; 10 SNPs were eQTLs influencing the expression of the target repair gene. For the base excision repair pathway, the implicated genes PARP1 and PARP2 encode poly(ADP-ribosyl) transferases with multiple regulatory functions. PARP1 and PARP2 have an important role in maintaining genome stability through diverse mechanisms. Other candidate genes with known roles for CSAs included GTF2H (general transcription factor IIH subunits 4 and 5), Fanconi anemia pathway genes, and PMS2 , a mismatch repair gene. The present results suggest pathways with mechanistic rationale for the formation of CAs and emphasize the need to further develop techniques for measuring individual sensitivity to genotoxic exposure. [ABSTRACT FROM AUTHOR]

Detonation of an improvised nuclear device highlights the need to understand the risk of mixed radiation exposure as prompt radiation exposure could produce significant neutron and gamma exposures. Although the neutron component may be a relatively small percentage of the total absorbed dose, the large relative biological effectiveness (RBE) can induce larger biological DNA damage and cell killing. The objective of this study was to use a hematopoietically humanized mouse model to measure chromosomal DNA damage in human lymphocytes 24 h after in vivo exposure to neutrons (0.3 Gy) and X rays (1 Gy). The human dicentric and cytokinesis-block micronucleus assays were performed to measure chromosomal aberrations in human lymphocytes in vivo from the blood and spleen, respectively. The mBAND assay based on fluorescent in situ hybridization labeling was used to detect neutron-induced chromosome 1 inversions in the blood lymphocytes of the neutron-irradiated mice. Cytogenetics endpoints, dicentrics and micronuclei showed that there was no significant difference in yields between the 2 irradiation types at the doses tested, indicating that neutron-induced chromosomal DNA damage in vivo was more biologically effective (RBE ∼3.3) compared to X rays. The mBAND assay, which is considered a specific biomarker of high-LET neutron exposure, confirmed the presence of clustered DNA damage in the neutron-irradiated mice but not in the X-irradiated mice, 24 h after exposure. [ABSTRACT FROM AUTHOR]

Introduction: Conventional cytogenetics by the use of standard karyotyping allows the study of numerical and structural chromosomal aberrations. Haematological malignancies include a number of cancer types that originate in the blood cells of the bone marrow or of the lymphatic system. Cytogenetic methods are traditionally used for the sake of diagnosis and prognosis of these diseases. However, with the ever more frequent use of molecular methods in the diagnostic laboratories, the importance of the conventional cytogenetic analysis in the diagnosis of haematological diseases needs to be reassessed. Aim: To evaluate the role of cytogenetic methods in the diagnosis of haematological malignancies. Materials and Methods: A retrospective analysis of cytogenetic findings of 146 patients with various haematological malignancies was performed. All of the findings were made over a period of three years at the Centre for Genetics at the Medical Faculty of the University of Sarajevo in Bosnia and Herzegovina. Microsoft Excel 2019 was used for the analysis and presentation of data in the form of tables and graphs. results: The results of the present study showed that the use of conventional cytogenetic analysis is a good diagnostic method for 50.68% (74) of patients in whom chromosomal aberrations were detected. conclusion: Cytogenetics remains the most comprehensive method for assessing chromosomal abnormalities due to its ability to detect clinically relevant aneuploidies and additional cytogenetic abnormalities that cannot be detected by locusspecific assays. [ABSTRACT FROM AUTHOR]

Since the mid-1950s, the volatile structure of butter oil and butter were researched, and an exhaustive list of elements has been collected. Diacetyl is an aromatic popular synthetic fragrance that gives food a buttery taste used in ice cream, snacks and potting with butter, strawberry, caramel, or cheese flavor. The chromosomal aberrations and micronuclei are commonly used biomarkers of chromosomal damage, genome stability, and cancer risk assessment. In vivo trials are still important to assess the genetic toxicology of chemical products such as industrial chemicals, pharmaceuticals, and food additives. This study aimed at assessing the potential genotoxic effect of diacetyl and butter flavors on swiss albino mice using alterations in liver function enzymes, micronucleus (MN), and chromosomal aberrations (CA) assays. The results showed that exposure of swiss albino mice males to diacetyl and butter flavors induced (CA) and (MN) in a statistically highly significant manner compared to the control. Meanwhile, the biochemical analysis revealed that these substances caused an exceptional rise in liver function enzymes (AST, ALT, and ALP) activity in serum of treated experimental animals. In conclusion, both tested compounds have increased the chromosomal aberration, micronucleus test, and serum levels of liver function enzymes indicating their high potential of being cytotoxic and genotoxic materials. [ABSTRACT FROM AUTHOR]

The current study investigated the protective and antioxidant potential of Aegle marmelos leaf extract against Cadmium-induced alterations in hepatic and renal tissues of BALB/c mice. Cadmium (Cd) is known for its toxicity and induction of oxidative stress even at a low level of exposure with prolonged persistence in the environment. Its metabolism and excretion depend on the endogenous antioxidant defense system, which gets compromised. For the present study thirty BALB/c mice were equally divided into six groups, namely Control (normal saline via gavage for 10 days), Cadmium (intraperitoneal dose of 5 mg/kg b.wt. for 5 days), Aegle alone (500 mg/kg b.wt. for 10 days via gavage), Pre-treatment of Aegle (500 mg/kg b.wt. for 10 days+5 mg/kg b.wt. of Cd for 5 days), Post-treatment of Aegle (5 mg/kg b.wt. of Cd for 5 days+500 mg/kg b.wt. for 10 days) and Vehicle group (0.5 mL oil/kg b.wt. through gavage for 10 days). The liver and kidney tissues of different groups were screened for oxidative stress indices, antioxidant enzyme systems, hepatic-renal biomarkers, histopathological alterations, chromosomal aberrations, and micronucleus formation. Sub-acute Cadmium exposure caused marked oxidative damage and tissue dysfunction evident from increased lipid peroxidation, liver-kidney serum function markers, and a subsequent decrease in reduced glutathione, catalase, superoxide dismutase, glutathione-S-transferase, glutathione reductase (p < 0.001). Histopathological analysis exhibited both reversible and non-reversible alterations.Additionally, a marked increase in chromosomal aberrations and micronucleation was observed. Both pre-and post-treatments with Aegle significantly restored altered antioxidant enzyme status, serum function markers, histomorphological alterations and reduced the percentage of chromosomal aberrations and micronucleation in the treated groups. Aegle exerts its protective efficacy due to its rich bio-active phytoconstituents, which regulated Cadmium evoked reactive oxygen species (ROS) and enhanced endogenous defense system to combat the cyto-genotoxic alterations. Moreover, all the parameters profoundly indicate higher efficacy of the pre-treatment dose. [ABSTRACT FROM AUTHOR]

The aim of the present study is to investigate the potential mutagenic and cytotoxic effects of insecticide Actara and fungicide Verita in the root meristems of onion (Allium cepa L.) and sweet pepper (Capsicum annuum L.). Three concentrations of each of these pesticides were investigated (stock solutions used in agricultural practices, and 10- and 20-times lower concentrations). The results showed that the onion and sweet pepper have different sensitivity towards Actara and Verita. The Verita 0.15% solution (recommended for agricultural usage), significantly reduces the pepper seeds germination. Similar effects in pepper seeds were found after treatment with other concentrations of the tested pesticides. In contrast, the treated onion seeds showed overall increased germination. Mitosis-depressive action of both pesticides was found (strongly expressed in onion after Verita 0.15% treatment and pepper after Verita-lowest concentration and Actara 0.02%). Different chromosomal aberrations were observed in the cells: anaphase/telophase bridges, lagging chromosomes and/or chromosome fragments, and micronuclei. Both studied pesticides have a genotoxic effect in the concentrations used in practice as well as in concentration lower than recommended. This indicates that even minimal residual amounts of them, accumulated in the soil, can damage plant chromosomes and could have a real mutagenic effect. [ABSTRACT FROM AUTHOR]

Obsolete organochlorine pesticides (OSPs) are currently prohibited as persistent organic pollutants that contaminate the environment. If undisposed, they continue to pollute soil and water, to accumulate in the food chain and to harm plants, animals and the human body. The aim of the study was to assess water and soil pollution around the storehouses of undisposed, banned OSPs and their possible genotoxic effect. The storehouses in four villages near Almaty, Kazakhstan were investigated. Chemical analysis confirmed contamination of water and soil around storehouses with OSPs. The genotoxic effect of water and soil samples was evaluated using model objects: S.typhymurium, D.melanogaster, sheep lymphocytes cultures and human lymphocytes cultures. It was found that water and soil samples caused mutagenic effect in all model systems. They increased the frequency of revertants in Salmonella, the frequency of lethal mutations in Drosophila chromosomes, and the frequency of chromosome aberrations in cultures of human and sheep lymphocytes. Although a genotoxic effect was demonstrated for each of these models, various models showed different sensitivity to the effects of pesticides and they varied degree of response. The association between the total content of OCPs in soil and the level of mutations for different model systems was discovered. [ABSTRACT FROM AUTHOR]

Background: Delayed parenthood, by both women and men, has become more common in developed countries. The adverse effect of advanced maternal age on embryo aneuploidy and reproductive outcomes is well known. However, whether there is an association between paternal age (PA) and embryonic chromosomal aberrations remains controversial. Oocyte donation (OD) is often utilized to minimize maternal age effects on oocyte and embryo aneuploidy, thus providing an optimal model to assess the effect of PA. Several studies have revealed a higher than expected rate of aneuploidy in embryos derived from young oocyte donors, which warrants examination as to whether this may be attributed to advanced PA (APA).Objective and Rationale: The objective of this systematic review and individual patient data (IPD) meta-analysis is to evaluate existing evidence regarding an association between PA and chromosomal aberrations in an OD model.Search Methods: This review was conducted according to PRISMA guidelines for systematic reviews and meta-analyses. Medline, Embase and Cochrane databases were searched from inception through March 2020 using the (MeSH) terms: chromosome aberrations, preimplantation genetic screening and IVF. Original research articles, reporting on the types and/or frequency of chromosomal aberrations in embryos derived from donor oocytes, including data regarding PA, were included. Studies reporting results of IVF cycles using only autologous oocytes were excluded. Quality appraisal of included studies was conducted independently by two reviewers using a modified Newcastle-Ottawa Assessment Scale. A one-stage IPD meta-analysis was performed to evaluate whether an association exists between PA and aneuploidy. Meta-analysis was performed using a generalized linear mixed model to account for clustering of embryos within patients and clustering of patients within studies.Outcomes: The search identified 13 032 references, independently screened by 2 reviewers, yielding 6 studies encompassing a total of 2637 IVF-OD cycles (n = 20 024 embryos). Two 'low' quality studies using FISH to screen 12 chromosomes on Day 3 embryos (n = 649) reported higher total aneuploidy rates and specifically higher rates of trisomy 21, 18 and 13 in men ≥50 years. One 'moderate' and three 'high' quality studies, which used 24-chromosome screening, found no association between PA and aneuploidy in Day 5/6 embryos (n = 12 559). The IPD meta-analysis, which included three 'high' quality studies (n = 10 830 Day 5/6 embryos), found no significant effect of PA on the rate of aneuploidy (odds ratio (OR) 0.97 per decade of age, 95% CI 0.91-1.03), which was robust to sensitivity analyses. There was no association between PA and individual chromosome aneuploidy or segmental aberrations, including for chromosomes X and Y (OR 1.06 per decade of age, 95% CI 0.92-1.21). Monosomy was most frequent for chromosome 16 (217/10802, 2.01%, 95% CI 1.76-2.29%) and trisomy was also most frequent for chromosome 16 (194/10802, 1.80%, 95% CI 1.56-2.06%).Wider Implications: We conclude, based on the available evidence, that APA is not associated with higher rates of aneuploidy in embryos derived from OD. These results will help fertility practitioners when providing preconception counselling, particularly to older men who desire to have a child. [ABSTRACT FROM AUTHOR]

Objectives To examine the risk for chromosomal aberrations in fetuses of colchicine-treated patients in a large cohort, and to perform a systematic literature review on the subject. Methods For the observational study, a retrospective search was performed through the Ministry of Health computerized database, for all invasive tests performed due to parental colchicine treatment over the years 2003–19. The rate of aberrant karyotypes in pregnancies exposed to colchicine was compared with a local cohort of 2752 normal pregnancies, yielding six (0.2%) karyotype-detectable findings. In addition, a systematic literature search was conducted for studies examining the rate of chromosomal aberrations in pregnancies exposed to colchicine. Results The study group consisted of 755 pregnancies karyotyped due to colchicine exposure. A marked decrease due to this indication was noted over the years (i.e. 67 cases in 2003 vs 8 in 2019). Five (0.66%) chromosomal aberrations were noted: 47,XXY; 45,X0; 47,XYY; and two fetuses with trisomy 21. This rate was significantly increased compared with the control population [relative risk 2.2 (95% CI: 1.1, 4.2)]. Literature search yielded four studies encompassing 740 pregnancies. The rate of chromosomal aberrations ranged from 'none' (in three studies) up to 1.5%. Quality assessment of the evidence was defined as 'low'. Conclusion The results of our observational study support the concern that colchicine treatment is associated with increased risk for fetal chromosomal aberrations; however, the absolute risk is relatively low (one in 151 pregnancies). This information should be taken into account when considering invasive testing in such pregnancies. [ABSTRACT FROM AUTHOR]

Chromosomal aberrations account for approximately 50% of fetal losses prior to the 15th week of gestation. The aim of this study was to determine the differences in frequencies and distribution of chromosomal aberrations in sporadic and habitual abortions. During a seven year period (2007.-2014.), we have analyzed 380 samples of chorionic villi after missed abortion in the Clinic for gynecology and obstetrics, Clinical center of Serbia. After first misscariage we analyzed 268 samples, and after habitual abortions 112 samples. For statistical analysis, we used X² test. Karyotype analysis revealed chromosomal aberrations in 22,4% (85/380) of all samples. In the group after first abortion, we found an aberrant karyotype in 15,7% (42/268) of cases. In the group with habitual abortions, chromosomal aberrations were detected in 38,4% (43/112) of cases. Statistical analysis showed significant difference between these two groups, Χ²=11,34> Χ² (1 I 0,05)=3,841i p<0,05. The distribution of chromosomal aberrations was similar in both groups. Also, in both groups, numerical chromosomal aberrations were the most common. The identification of cytogenetic causes is an important component in miscarriage etiology investigation, and it is recommended in order to improve genetic counseling of an involved couple. [ABSTRACT FROM AUTHOR]

Introduction. Chromosomal aberrations are rare but important causes of various movement disorders. In cases of movement disorders associated with dysmorphic features, multiorgan involvement and/or intellectual disability, the identification of causative chromosomal aberrations should be considered. Aim of the study. The purpose of this article was to summarise clinical findings in six patients with dystonia and two with parkinsonism and identified chromosomal aberrations in a single-centre prospective study. Materials and methods. 15 adult patients with dystonia or parkinsonism were referred to array comparative genomic hybridisation (aCGH) testing from our Department of Neurology between 2014 and 2019. Additionally, one patient had a karyotype examination. Detailed clinical, psychological and radiological diagnostics were performed in each case. Results. Chromosomal aberrations were identified in six patients with dystonia and two with parkinsonism. Two patients were identified with aberrations associated with de Grouchy syndrome. We also reported generalised dystonia in patients with deletion in 3q26.31 and duplication in 3p26.3, as well as dystonia and hypoacusis in a patient with duplication in Xq26.3. One patient was diagnosed with duplication in 21q21.1. Early-onset parkinsonism was a manifestation of deletion in the 2q24.1 region. Late onset parkinsonism was also present in the patient with the most severe aberrations (duplication 1q21.1q44; deletion 10p15.3p15.1; deletion 10q11.21). Conclusions. Dystonia and parkinsonism are possible manifestations of chromosomal aberrations. Chromosomal aberrations should be excluded in patients with early-onset movement disorders and concomitant dysmorphic features and/or intellectual disability. It is important to include this cause of movement disorders in future classifications. aCGH can be a valuable diagnostic tool in the evaluation of movement disorder aetiology. [ABSTRACT FROM AUTHOR]

Arsenic is potent human carcinogen which affects millions of people across the globe. Arsenic induced pre-cancerous and cancerous skin lesions are hall marks of chronic arsenic toxicity. Even then, only 15%–20% of the population manifest arsenic-induced skin lesions but the rest do not, the reason for which in not very clear. Not only that, conjunctival irritations of the eyes, peripheral neuropathy and respiratory distress are the non-dermatological health effects which are often manifested in them in addition to the cancers of skin and other internal organs. In this work we have considered 233 arsenic exposed individuals with skin lesions and 205 arsenic exposed individuals without skin lesions from the highly arsenic affected Murshidabad district of West Bengal. We have compared arsenic exposure in the two groups through drinking water. Both the study groups have similar levels of arsenic exposure, drinking same arsenic laden water. Results show that higher amounts of arsenic were retained in the nails and hair of the skin lesion group compared to the no skin lesion group. Significant higher amounts of chromosomal aberration and micronucleus formation were found in the skin lesion group, than the no skin lesion group. Incidences of conjunctival irritations of the eyes, peripheral neuropathy and respiratory distress were much higher in the former group compared to the later. We, thus found that one group was more susceptible than the other, even with similar levels of arsenic exposure. We have tried to identify and discuss the probable reasons for this observation with reference to our previous works in the exposed population from West Bengal, India. • Arsenic exposure causes development of skin lesions in 15-20% of the individuals. • These individuals are more susceptible to arsenic toxicity than their peers. • Genetic, epigenetic immune systems in combination are found to be involved. [ABSTRACT FROM AUTHOR]

The natural rubber industry consumes large volumes of water and annually releases wastewater with rich organic and inorganic loads. This wastewater is allowed for soil irrigation in developing countries. However, the pollutant composition in wastewater and its environmental effects remain unclear. Therefore, we aimed to assess the wastewater's physicochemical parameters, toxic organic pollutants, heavy metals, and phytotoxic and cytogenotoxic. The result revealed that values of comprehensive wastewater parameters were recorded as chemical oxygen demand (187432.1 mg/L), pH (4.23), total nitrogen (1157.1 mg/L), ammonia nitrogen (1113.0 mg/L), total phosphorus (1181.2 mg/L), Zn (593.3 mg/L), Cr (0.6127 mg/L), and Ni (0.2986 mg/L). The organic compounds detected by LC-MS were salbostatin, sirolimus, Gibberellin A34-catabolite, 1-(sn- glycero -3-phospho)-1D-myo-inositol, and methyldiphenylsilane. The toxicity of the identified toxic chemicals and heavy metals was confirmed by onion and mung bean phytotoxicity characterization tests. The wastewater affected the germination of mung bean seeds, reduced or inhibited the growth of onions, and induced various chromosomal aberrations in root apical meristems. Our study shows that the treatment of natural rubber wastewater needs to be improved, and the feasibility of irrigating soil with wastewater needs to be reconsidered. [Display omitted] • The first comprehensive and detailed characterization of pollutants in NRW. • Excessive concentrations of Zn, Cr, and Ni were detected in the NRW by flame-AAS. • Various potential toxicants were detected and identified by LC-MS. • Phytotoxicity and cytogenotoxicity of NRW was tested on mung beans and onion bulbs. • NRW requires stricter treatment when applied to soil irrigation. [ABSTRACT FROM AUTHOR]

The usages of medicinal plants as therapeutic agents have been practiced in a large scale of applications that make studies of their mutagenicity and/or anti-mutagenic /anti-carcinogenic effects very essential. The current investigation is focused on the anti-mutagenic effects of the Tamarix nilotica (Ehrenb) crude extract using chromosomal aberrations analysis in mice bone marrow. In fact, a single plant may have diversity of phytochemicals ranging from bitter compounds that stimulate digestive system, phenolic compounds for antioxidants and many other pharmacological properties, antibacterial, and antifungal, tannins that work as natural antibiotics, diuretic substances and alkaloids, etc. Tamarix is represented in Egypt with two indigenous species which are Tamarix aphylla (L.) (H.Karst) and T. nilotica (Ehrenb.) Bunge (T. nilotica (Ehrenb.). In addition, it was used in Egyptian traditional medicine as an antiseptic agent. Extracts of Tamarix species have been widely used in traditional medicine in Asia and Africa mainly for their antiseptic, astringent, diaphoretic and diuretic properties. The current investigation is focused on the anti-mutagenic effects of the Tamarix nilotica crude extract using chromosomal aberrations analysis in mice bone marrow. Mitomycin C (MMC) was administered to mice as a positive control alone before and after treatment with 5 or 0.5 mg/ kg b.wt Tamarix crude extract as acute (24 and 48 h) and sub-acute (15 consecutive days) doses respectively. Results indicated that the Mitomycin C (MMC) exposure induced statistically significant increase in chromosomal aberrations compared to the control, however T. nilotica revealed slight insignificant effect on aberrant mitosis rate. Chromosomal aberration domain structural and numerical aberrations. The frequency of chromosomal aberrations (CA) and mitotic index (MI) decreased with increasing the dose and time of T. nilotica treatment, especially pre-treatment (plant + MMC). This effect was found to be dose-dependent. In conclusion, the results showed that T. nilotica could be considered as a good anti-mutagenic agent.

Different chemicals can have genotoxic effects on the body, as confirmed by chromosome damage detection. Using conventional cytogenetic analysis and fluorescence in situ hybridization, we tested the extent of chromosome damage caused by the acetamiprid-based insecticide Mospilan 20SP on bovine peripheral blood lymphocytes at concentrations of, 2.5, 5, 25 and 50 µg.ml−1 after a 24 h incubation period. During the experiment, the presence of unstable aberrations—chromosomal and chromatid breaks and gaps—were detected by conventional cyto-genetic analysis. With increasing insecticide concentrations, we observed a statistically significant increase in chromosome damage frequency after 24 hours of exposure. Fluorescence in situ hybridization was used to detect stable structural aberrations; whole-chromosome painting probes for bovine chromosomes 1 and 7 (BTA 1 and BTA 7) were used for this purpose. As a result of exposure to the insecticide, neither BTA 1/BTA 7 translocations nor other types of translocations were observed.

Advances in nanotechnology in various fields of human activity contribute to increase of their production, improved properties and wider implementation of nanomaterials. However, increasing use may enhance their release into the environment and can lead to affecting human health. The toxicity of colloidal solutions of metal nanoparticles (Cu, Mn) and their oxides, obtained in the absence and presence of a stabilizer, was examined and compared with the use of the standard test system of Allium cepa L.. The phytotoxicity of the experimental solutions was evaluated according to the growth response of the onion roots; the cyto- and genotoxicity were estimated due to the proliferative activity of the root meristem cells. It was established that solutions of stabilized metal nanoparticles were at given concentration toxic to Allium cepa L. according to the integral index of roots growth, however, were not cytotoxic. Difference in the phytotoxicity of stabilized and non-stabilized metal nanoparticles and their oxides depended on their phase composition and affected root growth.

Prognostic significance of additional chromosomal abnormalities (ACAs) for tyrosinekinase inhibitors therapy (TKI) response in chronic myeloid leukemia (CML) patients is discussed. In many ways, this uncertainty is dueto the low frequency as well as the high variability of ACAs in patients with chronic phase CML. In this study, rate of this phenomenon and its impact on the resistance to TKI therapy in CML patients was evaluated. Overall, 502 (91.8%) patients had only the classic translocation t(9;22)(q34;q11) without ACAs at diagnosis. 45 (8.2%) patients presented with additional cytogenetic findings at diagnosis: 29 (5.3%) patients had variant translocations t(9;V;22), which were formed by three chromosomes, and in 16 patients (2.9%) had ACAs. One patient had both and was included in the group of patients with ACAs. The analysis of the tumor clone reduction dynamics by the Kaplan-Meier method did not reveal statistically significant differences in the cumulative complete cytogenetic and major molecular response rates (p = 0.712 and p = 0.111 respectively) between the patients with classical translocation t(9;22), patients with variant translocations and patients with ACAs. Analysis of long-term outcomes demonstrated inferior event-free (EFS), progression-free (PFS) and overall survival (OS) in CML patients with ACA at diagnosis. At 3 years, for patients with a classic translocation, patients with ACAs, and patients with a variant translocation t(9;V;22), the probability of EFS was 84,9% (95% ÑI, 81,2% 88,6%), 93,8% (95% CI, 81,8% 100,0%) and 43,9% (95% CI, 17,4% 70,4%), respectively. The probability of PFS was 92,0% (95% Ѳ, 89,3% 94,7%), 93,3% (95% Ѳ, 80,8% 100,0%) and 60,6% (95% Ѳ, 35,9% 85,3%), respectively. The probability of OS was 93,8% (95% C², 91,3% 96,4%), 93,8% (95% C², 82,1% 100,0%) and 76,2% (95% C², 65,2% 87,2%), respectively. No statistical difference was observed between the patients with classic translocation t(9;22) and those with variant translocations in terms of EFS, PFS and OS. Chromosomal abnormalities that appeared in CML patients at diagnosis and are not classic CML-specific translocation t(9;22)(q34;q11) may impair the prognosis of disease outcome. The presence of variant transactions in diagnosis does not impact the TKI therapy effectiveness. Additional chromosomal abnormalities in Ph+ cells lead to loss of the achieved cytogenetic and/or molecular response, disease progression, and the overall survival reduction in CML patients, treated with TKI.

Results of the research on the phytotoxic, cytotoxic and genotoxic effects revealed in common wheat (Triticum aestivum L.) plants germinated from seeds treated with nanooxide iron (Fe2O3 NP) and crystalline iron oxide (Fe2O3 cr.) are described. Stimulating effects of the majority of their studied concentrations on cell division and tissue growth were demonstrated. Effects of Fe2O3 NP and Fe2O3 cr. also have been studied on growth and development of the tomato (Lycopersicon esculentum L.) tissues cultivated in vitro. It has been shown that Fe2O3 NP and Fe2O3 cr. induced both inhibitory and stimulating effects depending on the concentrations applied.

The herbicide Dormex®, a solution of hydrogen cyanamide, is a growth regulator capable of breaking the dormancy of fruit plants, and is commonly applied in agriculture. However, the biological effects of this product on non-target organisms are unknown. The present study investigated the biological response of Astyanax lacustris (Lütken, 1875) specimens exposed to Dormex® using a chromosome aberration test, the mitotic index, and the histological analysis of the gills. Forty specimens of Astyanax lacustris were obtained from a local breeding facility and divided into 10 groups (nine experimental and one control) with four fish in each aquarium (group). The control group was maintained for 24 hours in dechlorinated water while the experimental groups were allocated to one of nine different treatments, with three concentrations of Dormex®, 0.05, 0.1 and 0.5 mL L-1, and exposure for 24, 48 and 72 hours. The fish exposed to Dormex® presented chromosomal aberrations of a number of types, including chromosomal breaks, acentric fragments, decondensation, and gaps at the three Dormex® concentrations, at all exposure times. The mitotic index decreased significantly in comparison with the control group. The histological preparations of the gills revealed alterations such as hyperplasia, and lamellar fusion and edema, whereas in the control group the structure of the gills was preserved. The cytogenetic analysis revealed the genotoxic potential of the herbicide Dormex® and the morphological alterations of the gills demonstrated the sensitivity of the fish, which responded rapidly to the stressor. These findings reinforce the need for special care and restrictions on the use of these herbicides in agricultural areas located near aquatic environments.