Frequency Of Aberrations Research Articles

An illustrated key for identification of colour aberrations in alcids with a revision of nomenclature used

Colour aberrations of plumage or bare parts of the body have been described in many avian taxa but their frequency in populations is low. In recent years, due to the development of cameras and the ability to share observations via social media, reports on observations of aberrantly coloured birds have become more common even in groups of birds breeding in less accessible sites, such as seabirds. In this study we review colour aberrations of integumentary structures (plumage and bare parts: beak, eye iris, legs) in a group of pelagic seabirds, alcids. To illustrate particular aberrations, we used our own photographs and conducted searches for similar images online and in published papers. In total, we collected 82 cases of unusually coloured individuals of nine alcid species. We revised the types of aberrations described in collected material in accordance with the recently proposed classification and terminology, and found that only 25.6% of cases were properly classified. The most commonly misused term for observed aberrations in collected images was “leucism” (34.1% of cases), which usually would have been more accurately described as Brown, Ino, Progressive Greying, rather than true Leucism. We also found that Progressive Greying (37.8%) and Brown (19.5%) were the most frequently recorded colour aberrations in the studied group. Our synthesis offers an updated summary of the colour plumage aberrations in alcids and a practical tool for identification of various colour aberrations in the group. It can help to classify the aberrations in future studies. Given that the frequency of colour aberrations may be indicative of an increased mutation rate or a high rate of inbreeding in a population, we encourage researchers to correctly identify and note those cases.

Association of GSTM1 and GSTT1 Copy Number Variation with Chromosomal Aberrations in Nuclear Power Plant Workers Exposed to Occupational Ionizing Radiation

Exposure to low-dose ionizing radiation in occupational settings raises concerns about chromosomal aberrations (CAs) and their potential impact on genomic stability. Copy number variations (CNVs), structural genomic changes, influence susceptibility to environmental stressors and radiation-induced damage. This study analyzed CAs in 180 nuclear power plant workers exposed to occupational radiation and 45 controls, stratified by GSTM1 and GSTT1 CNVs. Workers exhibited significantly higher frequencies of chromatid-type and chromosome-type aberrations, of 5.47 and 3.01 per 500 cells, respectively, compared to 3.57 and 0.64 in controls (p < 0.001 for both). In the relatively high-exposure group, chromatid-type aberrations decreased with increasing GSTM1 and GSTT1 copy numbers. For GSTM1, individuals with zero copies showed 6.37 ± 3.47 aberrations per 500 cells, compared to 5.02 ± 3.05 for one copy and 4.67 ± 2.40 for two or more copies (p = 0.06). A similar trend was observed for GSTT1, with 6.00 ± 3.29 aberrations per 500 cells for zero copies, 5.38 ± 2.79 for one copy, and 4.11 ± 4.26 for two or more copies (p = 0.05). Poisson regression analysis further supported these findings after adjusting for potential confounders such as age, smoking status, and alcohol intake. Workers with null genotypes exhibited a 1.36-fold increase in chromatid-type aberrations compared to those with higher copy numbers under relatively high-exposure conditions, suggesting a synergy effect between GSTM1 and GSTT1 null genotypes in modulating radiation-induced aberrations. These findings underscore the role of genetic susceptibility, particularly involving GSTM1 and GSTT1 CNVs, in modulating radiation-induced chromosomal damage. The observed gene–environment interaction in the relatively high-exposure group suggests that pre-existing CNVs contribute to chromosomal instability under radiation exposure.

High Frequency of PIK3R1 Alterations in Ovarian Cancers: Clinicopathological and Molecular Associations.

The phosphoinositide 3-kinase (PI3K) pathway is activated in multiple cancers. However, the significance of PIK3R1 encoding the PI3K regulatory subunit, an inhibitor of the PI3K catalytic subunit encoded by PIK3CA, in ovarian cancer development is largely unknown. Here, we investigated PIK3R1 genomic alterations and gene expression by direct sequencing and qPCR methods in 197 ovarian cancers. The results were correlated with clinicopathological and molecular variables and patient outcomes. In addition to mutations (3.5%) and allelic losses (28.4%), we observed a very high frequency of decreased PIK3R1 mRNA levels in ovarian carcinomas (95.8%). Tumors with PIK3R1 mutations mostly represented low-stage cancers of endometrioid and clear-cell type. Tumors with PIK3R1 deletion and underexpression shared similar phenotypes of high-grade carcinomas (p = 0.003 and p = 0.025, respectively). Allelic loss was also associated with advanced stages (p = 0.003) and high-grade serous histotypes (p = 0.004). The PIK3R1 copy number correlated with mRNA levels (p = 0.009). PIK3R1 mutations coexisted with PTEN mutations (p = 0.041), whereas PIK3R1 deletion and underexpression were linked to PIK3CA amplification (p = 0.038 and p = 0.033, respectively). Low PIK3R1 expression diminished the probability of a complete response (OR 0.07, p = 0.03) in patients treated with platinum-based regimens. PIK3R1 alterations may contribute to the development of ovarian cancers with different malignant potential and molecular changes. The high frequency of PIK3R1 aberrations suggests their importance in PI3K pathway deregulation, and they may potentially serve as an alternative to PIK3CA markers for therapy with these pathway inhibitors.

Unraveling epigenetic heterogeneity across gastrointestinal adenocarcinomas through a standardized analytical framework.

In this study, we propose an alternative approach for stratifying genome-scale DNA methylation profiles of gastrointestinal (GI) adenocarcinomas based on a robust analytical framework. A set of 978 GI adenocarcinomas and 120 adjacent normal tissues from public repositories was quality controlled and analyzed. Hierarchical consensus clustering of the tumors, based on differential epigenetic variability between malignant and normal samples, identified six distinct subtypes defined either by a pan-GI or a lower GI-specific phenotype. In addition to methylation levels, aberrant methylation frequencies and the degree of DNA methylation instability contributed to the characterization of each subtype. We found significant differences in the outcome of patients, with the poorest overall survival seen for those belonging to a pan-GI subtype with infrequent aberrant methylation. In conclusion, our standardized approach contributes to a refined characterization of the epigenetic heterogeneity in GI adenocarcinomas, offering insights into subtype-specific methylation with the potential to support prognostication.

STUDY OF CHROMOSOME STABILITY OF HUMAN SOMATIC CELLS IN THE DEVELOPMENT OF THE SECONDARY RADIATION-INDUCED BYSTANDER EFFECT.

To establish the level of chromosomal instability in human peripheral blood lymphocytes during thedevelopment of secondary radiation-induced bystander effect. Human peripheral blood lymphocytes; culture of human non-small-cell lung cancer cell lineA549 (irradiated in vitro by 137Cs in a dose of 0.50 Gy/unirradiated). Cytogenetic analysis of uniformly colored chromosomes of human peripheral blood lymphocytes with determination of the frequency of all types of aberrations. The mean group frequency of chromosome aberrations (4.75 per 100 cells) in human peripheral blood lymphocytes co-cultivated with conditioned culture medium from bystander cells of human non-small cell lung cancercell lines A-549 exceeded the control (1.60 per 100 cells) (p < 0.001) due to an increase in the frequency of singlefragments from 1.20 to 3.95 per 100 cells (p < 0.001). The mean group frequency of chromosome aberrations andchromatid-type aberrations in human peripheral blood lymphocytes during the development of primary (5.80 and4.35 per 100 cells, respectively) and secondary (4.75 and 3.95 per 100 cells, respectively) radiation-induced bystander effect did not significantly differ from each other (p > 0.05). Under the conditions of co-cultivation of human peripheral blood lymphocytes with conditioned culture medium from bystander cells of human non-small cell lung cancer A-549, a secondary radiation-induced bystander effect was registered, the cytogenetic manifestation of which was an increase in the level of chromosomalinstability due to the rise in the frequency of chromatid-type aberrations (single fragments). The levels of chromatid-type chromosome aberrations during the development of the primary and secondary radiation-inducedbystander effect did not differ significantly. The development of the secondary radiation-induced bystander effectdid not affect the induction of chromosomal-type aberrations.

Analysis of microsatellite instability in primary mediastinal large B-cell lymphoma: Focus on PD-L1/PD-L2 and CIITA

Introduction. Primary mediastinal large B-cell lymphoma (PMBCL) is a rare non-Hodgkin lymphoma. Considering the immunophenotype of PMBCL, which differs from diffuse large B-cell lymphoma (DLBCL), Microsatellite Repeat (MSR) aberrations in regions flanking PD-L1/PD-L2 and CIITA genes were investigated.Aim: to study the prevalence of MSR aberrations in 19 loci of the COrDIS Plus panel and in the regions of the PD-L1/PD-L2, CIITA genes in PMBCL and DLBCL, and to compare it with the expression level of PD-L1 and HLA-DR in PMBCL.Materials and methods. The study included 137 patients, 86 (62,8%) with PMBCL and 51 (37.2%) with DLBCL. The analysis was conducted using the standard COrDIS Plus panel, which includes a set of primers for 19 loci of tetranucleotide repeats. The allelic imbalance (AI) of MSR close to the PD-L1/PD-L2 genes (9p24.1) (n = 68/86 (79.1%) for PMBCL, n = 36/51 (70.6 %) for DLBCL) and CIITA (16p13.13) (n = 71/86 (82.6 %) for PMBCL, n = 29/51 (56.9 %) for DLBCL) was investigated using STR analysis. Patients with homozygous inheritance for each of the studied markers were excluded from further analysis due to the inability to assess loss of heterozygosity (LOH). The expression of PD-L1 and HLA-DR was assessed by immunohistochemistry in 27/86 (31.4 %) PMBCL patients.Results. Homozygosity for both markers near the PD-L1/PD-L2 genes was found in 5/68 (7.4 %) of PMBCL patients and 10/36 (27.8 %) of DLBCL patients (p = 0.008). Aberrations of MSR flanking the PD-L1/PD-L2 genes were detected in 33/63 (52.4%) of PMBCL patients and 5/26 (19.2 %) of DLBCL patients (p = 0.003; OR 5.8; 95% CI [2.8–18.7]). Homozygosity for both markers near the CIITA gene was identified in 8/71 (11.3%) of PMBCL patients and 7/29 (24.1%) of DLBCL patients (p = 0.13). AI near the CIITA gene was found in 24/63 (38.1 %) of PMBCL patients, while no changes in the CIITA region were observed in the DLBCL group (p = 0.0001; OR 14.3; 95% CI [2.8–262.5]). Using the COrDIS Plus panel, the frequencies of tetranucleotide repeat aberrations did not significantly differ between PMBCL and DLBCL (p = 0.78 for LOH, p = 0.17 for EMAST). No correlation was found between MSR aberrations near the PD-L1/PD-L2 and CIITA genes and the expression levels of PD-L1 and HLA-DR (p = 0.402 and 0.668, respectively).Conclusion. A statistically significant more frequent alteration in the MSR marker profile of the PD-L1/PD-L2 and CIITA gene regions was found in PMBCL patients compared to DLBCL. Chromosomal microarray analysis in 2 out of 3 PMBCL cases revealed genetic aberrations involving the PD-L1/PD-L2 and/or CIITA genes, and AI of these genes was observed simultaneously with the MSR profile evaluation. This confirms the different pathogenesis of these diseases and suggests that the presence of AI in these loci indicates the involvement of these genes in the pathogenesis. There is no correlation between AI in the PD-L1/PD-L2 and CIITA gene regions and the expression of PD-L1 and HLA-DR, respectively.

Quantity, variability and correlation of sex and thyroid hormones in sheep of Romanov breed with biochemical, physicochemical and cytogenetic parameters

A comprehensive assessment of the physiological state of animals should include a study of hormone levels and their correlations with different hematological, biochemical, physicochemical and cytogenetic parameters. Hormonal status is an important integral indicator reflecting the general condition of the organism and the adaptive capabilities of animals. The average values, variability and reference intervals of sex and thyroid hormones in sheep of Romanov breed in Western Siberia were determined. No significant correlations were found between the levels of the studied hormones in the blood serum. Average and high correlations of various directions were found between the hormone levels with some biochemical, physicochemical and cytogenetic parameters. Thus, triiodothyronine correlated positively with the number of leukocytes (r=0.441) and urea (r=0.509), but negatively with conjugated bilirubin (r=–0.558). Thyroid hormones were largely associated with biochemical parameters. Sex hormones were associated in many cases with the level of heavy metals in some organs of sheep. Thus, estradiol was positively associated with the copper content in the heart (r=0.463) and liver (r=0.439), but negatively with the lead level in the lungs (r=–0.499). Negative correlations were found between the thyroid hormone content and some indices of somatic chromosomal instability. Thus, the level of triiodothyronine negatively correlated with the frequency of chromosome aberrations (r=–0.527), and thyroxine with the frequency of chromosome breaks (r=–0.639).

Aberrant frequency of circulating IL-21+ T follicular helper cells in patients with primary focal segmental glomerulosclerosis

Follicular helper T (Tfh) cells have been implicated in the pathophysiology of numerous diseases. This study investigated the hypothetical function of peripheral blood IL-21+ Tfh cells in the etiology of focal segmental glomerulosclerosis (FSGS). Tfh cell subsets were identified via flow cytometry in PBMCs from 15 patients with FSGS and 9 healthy controls (HCs). Moreover, a cytometric bead array (CBA) was used to determine the level of IL-21 in the serum. The proportions of IL-21+ cTfh cells, IL-21+ PD-1+ cTfh cells and serum IL-21 were lower in FSGS patients than in HCs. In FSGS patients, the serum IL-21 concentration was positively correlated with the frequency of IL-21+ cTfh cells and IL-21+ PD-1+ cTfh cells. The frequencies of IL-21+ cTfh cells and IL-21+ PD-1+ cTfh cells were negatively associated with 24-h urine protein but positively correlated with eGFR, serum albumin and serum IgG. ConclusionsAn aberrant frequency of IL-21+ Tfh cells was detected in FSGS patients, which may provide a better understanding of FSGS pathogenesis.

A study on the effect of Hypericum perforatum L. extract on vanadium toxicity in Allium cepa L.

The growth of industrialization growth the risk of vanadium (V) contamination. The objective of this study was to examine the impact of 200 µg L− 1 VCI3 -induced toxicity as well as the potential protective effect of 187.5 mg L− 1 and 375 mg L− 1Hypericum perforatum (H. perforatum) extracts against this toxicity on the Allium cepa (A. cepa) model organism. For this purpose, a series of investigations were conducted on the growth physiology alterations (germination percentage, root elongation, weight gain), cytogenetic alterations (mitotic index, micronucleus, chromosomal aberrations), biochemical alterations (malondialdehyde, superoxide dismutase, catalase) and defects in meristematic tissue in A. cepa. In addition, the phenolic compound content of H. perforatum extract was determined by the LC/MS-MS method. V application negatively affected all the investigated parameters and caused a serious phytotoxic and genotoxic effect as well as oxidative stress in A. cepa. Conversely, no statistical difference was observed between the parameters of the groups treated with H. perforatum extract and those of the control group. The administration of H. perforatum extract combined with V resulted in a notable enhancement in germination percentage, root elongation, weight gain, mitotic index value, chlorophyll a level and chlorophyll b level. Additionally, it led to a reduction in micronucleus and chromosomal aberrations frequencies, as well as meristematic tissue defects. Furthermore, LC/MS-MS analysis demonstrated that H. perforatum extract contains phenolic compounds, including catechin, epicatechin, quercetin, oleuropein and rutin, which confer antioxidant properties to the extract. The study provided clear evidence that H. perforatum extract attenuates the toxic effects of V in A. cepa, which can be attributed to its high content of bioactive phenols. The findings of the study indicate that H. perforatum extract may serve as a protective natural agent for daily use against heavy metal toxicity.

Arrested development and increased incidence of sandprawn embryonic aberrations along an intertidal human recreation gradient.

Anthropogenic pressures are increasing in coastal ecosystems globally, yet identifying robust indicators of change and managing coastal resources can be complicated by phenotypic plasticity and differential life-history responses of key organisms. We illustrate this using biogeochemical and sandprawn (Kraussillichirus kraussi) response metrics along a human recreation gradient (trampling, sandprawn harvesting) in a South African lagoonal ecosystem. Benthic compaction, oxygen depletion and high porewater ammonia concentrations were associated with greatest recreation intensity. Sandprawn abundance was similar across the recreation gradient and body condition was counter-intuitively greater in areas with maximum recreation, but with higher frequencies of embryonic aberrations and arrested development. These findings suggest different vulnerabilities of life-history stages of sandprawns to recreation, with embryonic stages being highly susceptible. We suggest that embryonic aberrations and developmental changes in endobenthic crustaceans may be sensitive bioindicators of recreation-induced changes in sedimentary systems.

Biological effects of radiation exposure in patients treated with X-ray guided endovascular aortic repair

Abstract Background X-ray guided cardiovascular interventions such as endovascular aortic repair (EVAR) expose patients and operators to significant amounts of repeated ionising radiation over a long period of time. The biological effect of such protracted radiation exposure is poorly understood. We have previously demonstrated a higher incidence of dicentric chromosome (DC) aberrations in high-volume endovascular interventionalists and differences in acute DNA damage in lymphocytes between individuals following in vitro irradiation. Studies suggested a higher incidence of cancer in patients who underwent EVAR compared with those who have had open aneurysm repair, but the evidence is inconclusive. Further work is required to evaluate the biological radiation risk of X-ray guided cardiovascular interventions. Purposes We aimed to examine radiation-induced genome instability from patients after complex EVAR. We also aimed to investigate the intrinsic response of each patient to radiation using biomarkers of acute DNA damage following in vitro irradiation of their blood and to correlate this response to the expression of radiation-responsive genes. Methods Lymphocytes were isolated from patients after complex (branched/fenestrated) EVAR and non-irradiated controls. DC, a type of chromosomal aberration caused by radiation exposure were enumerated. γ-H2AX, a marker of acute DNA damage/repair, was measured by immunofluorescence after in vitro irradiation at 0.2 Gy and 1 Gy, along with the expression of the radiation-responsive genes FDXR, CCNG1, P21 and PHPT1 using qPCR. Results 17 patients (82% male, median age 73[59 – 85years]) and 16 controls (56% male, median age 68[53 – 83years]) were recruited. The mean incidence of DC was 3.782 (95% CI 3.13 - 4.43) and 0.898 (95% CI 0.48 -1.32) per 1000 cells for patients and controls, respectively (P&amp;lt;0.0001). Patients had higher background of γ-H2AX foci than unexposed controls, (0.7056, 95% CI 0.316 - 1.10) vs (0.241 95% CI 0.077 - 0.405) per cell, P&amp;lt;0.05. FDXR expression was most increased following irradiation (P&amp;lt;0.0001), reaching a mean 13.1-fold and 11.4-fold increase at 4-hour and 24-hour time-point, respectively, but this upregulation was not significantly different between the two groups. Conclusion We have shown an increased frequency of chromosomal aberrations in patients after complex EVAR, a biological finding that may support a propensity to developing malignancies. Patients also have higher basal DNA damage/repair (γ-H2AX) activity. Expression of ferredoxin reductase, FDXR gene could be a potential radio-responsive biomarker to provide personalised biological dosimetry information for clinical monitoring. Our study further underlines the long-term radiation risk of X-ray guided cardiovascular interventions and the potential of biological assays that may guide personalised care.

Germline and somatic alterations in NBN and their putative impact on the pathogenesis of malignant neoplasms

Disruption of mechanisms that maintain genome stability is an essential factor of tumor progression. Accordingly, predisposition to the development of neoplasms is often associated with germline mutations in genes involved in DNA damage detection and repair. At the same time, impairment of DNA repair systems may be a predictor of antitumor treatment efficacy while overexpression of genes involved in DNA repair is a frequent event in various types of malignancies that can lead to development of tumor cells’ resistance to chemo- and radiotherapy. NBN (nibrin) gene encodes the subunit of the MRN complex which acts as a sensor of double-strand DNA breaks and participates in their repair by homologous recombination. Germline variants in NBN which are associated with increased risk of tumor development are generally represented by frameshift mutations that lead to the synthesis of truncated protein as well as by nonsense and some missense mutations which occur in functionally significant domains. These germline mutations result in partial loss of nibrin function and in increased frequency of spontaneous and induced chromosomal aberrations in the cells of the carriers. On the contrary, amplification of NBN locus is a predominant type of somatic mutations affecting this gene, which indicates a dual role of NBN protein in tumor progression. The results of several studies demonstrate the influence of NBN expression level and its mutational status on anti-tumor drug resistance in particular types of tumor cells and on the survival rate of patients. These data indicate that an in-depth study of different variants and their functional significance is necessary since NBN status may be essential for the choice of treatment tactics for some types of tumors.

Gene editing of NCF1 loci is associated with homologous recombination and chromosomal rearrangements

CRISPR-based genome editing of pseudogene-associated disorders, such as p47phox-deficient chronic granulomatous disease (p47 CGD), is challenged by chromosomal rearrangements due to presence of multiple targets. We report that interactions between highly homologous sequences that are localized on the same chromosome contribute substantially to post-editing chromosomal rearrangements. We successfully employed editing approaches at the NCF1 gene and its pseudogenes, NCF1B and NCF1C, in a human cell line model of p47 CGD and in patient-derived human hematopoietic stem and progenitor cells. Upon genetic engineering, a droplet digital PCR-based method identified cells with altered copy numbers, spanning megabases from the edited loci. We attributed the high aberration frequency to the interaction between repetitive sequences and their predisposition to recombination events. Our findings emphasize the need for careful evaluation of the target-specific genomic context, such as the presence of homologous regions, whose instability can constitute a risk factor for chromosomal rearrangements upon genome editing.

DNA Damage, Cell Death, and Alteration of Cell Proliferation Insights Caused by Copper Oxide Nanoparticles Using a Plant-Based Model.

The speedy growth of copper oxide nanoparticle (CuO NP) manufacturing due to their wide application in industries has caused concerns due to their increased discharge into the environment from both purposeful and accidental sources. Their presence at an elevated concentration in the environment can cause potential hazards to the plant kingdom, specifically to staple food crops. However, limited research is available to determine the consequences of CuO NPs. The present study aimed to assess the morphological and cytological changes induced by CuO NPs on Pisum sativum L., a key staple food crop. Seeds of Pisum sativum were exposed to various concentrations of CuO NPs (0, 25, 50, 75, 100, and 125 ppm) for 2 h, and their effects on seed germination (SG), radicle length (RL), cell proliferation kinetics (CPK), mitotic index (MI), cell death (CD), micronucleus frequency (MNF), and chromosomal aberration frequency (CAF) were studied. The results indicate a significant reduction in SG, RL, CPK, and MI and a significant dose-dependent increase in CD, MNF, and CAF. CuO NP treatment has led to abnormal meiotic cell division, increased incidence of micronucleus frequency, and chromosomal aberration frequency. Additionally, the CuO NP-treated groups showed an increase in the percentage of aberrant meiotic cells such as laggard (LG), double bridge (DB), stickiness (STC), clumped nuclei (CNi), precocious separation (PS), single bridge (SB), and secondary association (SA). CuO NP treatment led to reductions in SG as follows: 55% at 24 h, 60.10% at 48 h, and 65% at 72 h; reductions in RL as follows: 0.55 ± 0.021 cm at 24 h, 0.67 ± 0.01 cm at 48 h, and 0.99 ± 0.02 cm at 72 h; reductions in CPK as follows: 34.98% at prophase, 7.90% at metaphase, 3.5% at anaphase, and 0.97% at telophase. It also led to a 57.45% increase in CD, a 39.87% reduction in MI, and a 60.77% increase in MNF at a higher concentration of 125 ppm. The findings of this study clearly show that CuO NPs have a genotoxic effect on the food crop plant Pisum sativum.

Characterization of somatic mutations in sporadic uveal melanoma and uveal melanoma in patients with germline BAP1 pathogenic variants.

Genetic analyses were conducted on tumor samples from 88 patients with uveal melanoma (UM), 6 of whom carry pathogenic germline variants in BAP1. We assessed the frequency, pattern, and prognostic significance of somatic aberrations, and investigated differences between germline BAP1 variant carriers compared to sporadic cases. The frequency of the main oncogenic driver mutations was not significantly different between these groups. Patients with germline BAP1 variants did not have significantly different overall survival compared to the wildtype or somatic BAP1 mutation groups. Patients with a somatic BAP1 mutation (n = 24) had a significantly worse prognosis compared to wildtype (n = 58). All patients with stage III tumors and a somatic BAP1 mutation (n = 7) developed metastasis, however four of 28 stage I-II tumors without metastasis had somatic BAP1 mutations, with observation time >5 years. The tumor from one germline BAP1 carrier (stage IIIC) with a somatic EIF1AX splice variant, has not developed metastasis within a 22-year observation time.

Chromosomal aberrations and early mortality in a non-mammalian vertebrate: example from pressure-induced triploid Atlantic salmon

In commercial aquaculture, the production of triploid fish is currently the most practical approach to prevent maturation and farm-to-wild introgression following escapes. However, triploids often exhibit poor welfare, and the underlying mechanisms remain unclear. Inheritance issues associated with sub-optimal hydrostatic pressure treatments used to induce triploidy, or the genetic background of parental fish, have been speculated to contribute. We tested this by quantifying the frequency and type of chromosomal aberrations in Atlantic salmon subjected to a gradient of sub-optimal pressure treatments (Experiment 1) and from multiple mothers (Experiment 2). From these experiments, we genotyped a subsample of ~900 eyed eggs and all ~3300 surviving parr across ~20 microsatellites. In contrast to the low frequency of chromosomal aberrations in the diploid (no hydrostatic pressure) and triploid (full 9500 PSI treatment) controls, eyed eggs subjected to sub-optimal pressure treatments (6500–8500 PSI) had a higher incidence of chromosomal aberrations such as aneuploidy and uniparental disomy, corresponding to lower triploidization success and higher egg mortality rates. We also observed maternal effects on triploidization success and incidence of chromosomal aberrations, with certain half-sibling families exhibiting more aberrations than others. Chromosomal aberrations were rare among surviving parr, suggesting a purge of maladapted individuals during early development. This study demonstrates that sub-optimal hydrostatic pressure treatments and maternal effects not only influence the success of triploidization treatments, but may also affect the incidence of chromosomal aberrations and early mortality. The results have important implications for aquaculture breeding programs and their efforts to prevent farm-to-wild introgression.

Array Comparative Genomic Hybridization (aCGH) Results among Patients Referred to Invasive Prenatal Testing after First-Trimester Screening: A Comprehensive Cohort Study.

Introduction: Invasive prenatal testing with chromosomal microarray analysis after first-trimester screening is a relevant option but there is still debate regarding the indications. Therefore, we evaluated the prevalence of numerical chromosomal aberrations detected by classic karyotype and clinically relevant copy number variants (CNVs) in prenatal samples using array comparative genomic hybridization (aCGH) stratified to NT thickness: <the 95th percentile, the 95th percentile-2.9 mm, 3.0-3.4 mm, 3.5-3.9 mm, 4.0-4.5 mm, and >4.5 mm, and by the presence/absence of associated structural anomalies detected by ultrasonography. Materials and Methods: Retrospective cohort study carried out at two tertiary Polish centers for prenatal diagnosis (national healthcare system) in central and south regions from January 2018 to December 2021. A total of 1746 prenatal samples were received. Indications for invasive prenatal testing included high risk of Down syndrome in the first-trimester combined test (n = 1484) and advanced maternal age (n = 69), and, in 193 cases, other reasons, such as parental request, family history of congenital defects, and genetic mutation carrier, were given. DNA was extracted directly from amniotic fluid (n = 1582) cells and chorionic villus samples (n = 164), and examined with classic karyotype and aCGH. Results: Of the entire cohort of 1746 fetuses, classical karyotype revealed numerical chromosomal aberrations in 334 fetuses (19.1%), and aCGH detected CNV in 5% (n = 87). The frequency of numerical chromosomal aberrations increased with NT thickness from 5.9% for fetuses with NT < p95th to 43.3% for those with NT > 4.5 mm. The highest rate of numerical aberrations was observed in fetuses with NT > 4.5 mm having at least one structural anomaly (50.2%). CNVs stratified by NT thickness were detected in 2.9%, 2.9%, 3.5%, 4.3%, 12.2%, and 9.0% of fetuses with NT < 95th percentile, 95th percentile-2.9 mm, 3.0-3.4 mm, 3.5-3.9 mm, 4.0-4.5 mm, and >4.5 mm, respectively. After exclusion of fetuses with structural anomalies and numerical aberrations, aCGH revealed CNVs in 2.0% of fetuses with NT < 95th percentile, 1.5% with NTp95-2.9 mm, 1.3% with NT 3.0-3.4 mm, 5.4% with NT 3.5-3.9 mm, 19.0% with NT 4.0-4.5 mm, and 14.8% with NT > 4.5 mm. Conclusions: In conclusion, our study indicates that performing aCGH in samples referred to invasive prenatal testing after first-trimester screening provides additional clinically valuable information over conventional karyotyping, even in cases with normal NT and anatomy.

A Standardized Classification Scheme for Gastroduodenal Disorder Evaluation Using the Gastric Alimetry System: Prospective Cohort Study

Gastric Alimetry™ (Alimetry, New Zealand) is a new clinical test for gastroduodenal disorders involving simultaneous body surface gastric electrical mapping and validated symptom profiling. Studies have demonstrated a range of distinct pathophysiological profiles, and a classification scheme is now required. We used Gastric Alimetry spectral and symptom profiles to develop a mechanism-based test classification scheme, then assessed correlations with symptom severity, psychometrics, and quality of life. We performed a multicenter prospective cohort study of patients meeting the Rome IV criteria for functional dyspepsia and chronic nausea and vomiting syndromes. Patients underwent Gastric Alimetry profiling, and a standardized digital classification framework was devised and applied to separate patients into those with a) abnormal spectral analyses (ie aberrant gastric frequencies, amplitudes, and rhythms); and normal spectral analyses with b) symptoms correlated to gastric amplitude (subgroups: sensorimotor, postgastric, and activity-relieved), and c) symptoms independent of gastric amplitude (subgroups: continuous, meal-relieved, meal-induced). Two hundred ten patients were included (80% female, median age 37), of whom 169 met the criteria for chronic nausea and vomiting syndromes and 206 met the criteria for functional dyspepsia (79% meeting both criteria). Overall, 83% were phenotyped using the novel scheme, with 79/210 (37.6%) classified as having a spectral abnormality. Of the remainder, the most common phenotypes were "continuous pattern" (37, 17.6%), "meal-induced pattern" (28, 13.3%), and "sensorimotor pattern" (15, 7.1%). Symptom patterns independent of gastric amplitude were more strongly correlated with depression and anxiety (Patient Health Questionnaire 2: exp(β) 2.38, P= .024, State-Trait Anxiety Inventory Short-Form score: exp(β) 1.21, P= .021). A mechanistic classification scheme for assessing gastroduodenal disorders is presented. Classified phenotypes showed independent relationships with symptom severity, quality of life, and psychological measures. The scheme is now being applied clinically and in research studies.

Trends in the cytogenetic and immunologic status of healthy persons; Kazakhstan, 2007–2022

Environmental pollution can affect immune health and genome stability. We have studied the immunological and cytogenetic status of healthy urban (Almaty City, which has high levels of air pollution) and rural residents of southern Kazakhstan, over the past 15 years. Differences between the groups in plasma immunoglobulin levels and chromosomal aberration frequencies were noted. Over the 15-year study period, decreases of immunoglobulin levels and increases of chromosomal aberration frequencies were observed and correlated with place of residence and ecological status of the region of residence; both ecological deterioration and the coronavirus pandemic are likely to have had negative effects.

Cytogenetic monitoring of spontaneous mutagenesis

Due to the challenging environmental situation in Ukraine, there is a need for cytogenetic monitoring, establishing cause-and-effect relationships, and assessing the toxic-mutagenic activity of environmental components. The results of such monitoring can serve as a basis for developing rehabilitation measures aimed at improving the environmental condition. Cytogenetic bioassay methods allow the evaluation of ecological and genetic risks to biota, considering the overall impact of pollutants, predicting changes in ecosystems, and making timely management decisions to improve environmental quality and preserve the nation’s gene pool. The article provides cytogenetic monitoring of apical meristems of the roots of Raphanus sativus subsp. radicula (Pers.) DC. and Allium cepa L. seedlings., grown on soils of residential areas, and the effect of ions of some elements on the cytological parameters of Pisum sativum L. was studied. It was noted that the spectrum of mitosis abnormalities and chromosome aberrations was expanded due to lagging chromosomes and micronuclei. Residential areas with a consistently high level of spontaneous cytogenetic disorders require the development of a local monitoring system to identify genetic hazards. The research on the proliferative activity of apical meristem cells confirms the hypothesis of aluminum toxicity to plants. Cytotoxic effects are assessed at the micro- and macroscopic levels. Macroscopically, reduced root growth of bioindicator plants was observed, which may result from several possible mechanisms: cell death, inhibition of division, cell elongation, or nutrient absorption. It was found that the duration of the prophase is directly influenced by the mobile forms of Zn and Pb, while Cu has a reverse effect. According to the results of multiple regression analysis, the most significant influence on these processes is exerted by the mobile forms of Zn, Cu, and Pb in the surface layers of the soils of the studied residential areas. Under the influence of AlCl3, the proportion of cells in the anaphase stage increases; CdCl2 affects the prophase stage; Na2SeO3 affects the meta- and anaphase stages; X-ray irradiation affects the telophase stage. Regarding the ability to induce the frequency of aberrant anaphases, a ranking can be constructed: Na2SeO3 (3.75·10–6 M) &gt; AlCl3 (3.86·10–5 M) &gt; CdCl2 (8.44·10–5 M). A radiation dose of 9.03·10–3 C/kg leads to the frequency of chromosomal aberrations, similar to the effects of AlCl3 (3.86·10–4 M) and Na2SeO3 (8.34·10–6 M). High concentrations of aluminum are associated with an increase in anaphases with fragments and two to three bridges.