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Background. Current chemotherapy protocols for T-cell acute lymphoblastic leukemia (T-ALL) allow achieving a 5-year overall survival of 60–90 %, but relapsed and refractory forms remain incurable situations.Aim. To determine the significance of immunophenotypic, cytogenetic and molecular markers in adult T-ALL patients receiving therapy according to the ALL-2016 protocol.Materials and methods. From December 2016 to June 2022, 113 patients with primary T-ALL were included in the study. Cytogenetic study was performed in 104 (92 %) patients; anomalies in the IKZF1 and NOTCH1 genes were investigated in 43 (38 %) patients.Results. The worst prognosis was in patients with ETP and near-ETP variants of T-ALL (3-year disease-free survival was 54 % in ETP group, 33 % in near-ETP group vs TI/II – 79 %, TIII – 89 %, TIV – 75 %). In early T-ALL variants, abnormal karyotype was most common (ETP – 80.7 %, near-ETP – 60 %). Aberrations in NOTCH1 gene were found in 53 % of cases (in 23 out of 43 patients), and no mutations were found in IKZF1 gene in our study. In the group with no NOTCH1 abnormalities, the overall survival was significantly worse than in the group with abnormalities (NOTCH1– – 52 % vs NOTCH1+ –81 %; p = 0.05).

Background Heavy rare earth elements (HREEs) have been scarcely studied for their toxicity, in spite of their applications in several technologies. Thus HREEs require timely investigations for their adverse health effects. Methods Paracentrotus lividus and Arbacia lixula embryos and sperm were exposed to trichloride salts of five HREEs (Dy, Ho, Er, Yb and Lu) and to Ce(III) as a light REE (LREE) reference to evaluate: 1) developmental defects (% DD) in HREE-exposed larvae or in the offspring of HREE-exposed sperm; 2) mitotic anomalies; 3) fertilization success; and 4) reactive oxygen species (ROS) formation, and nitric oxide (NO) and malondialdehyde (MDA) levels. Nominal HREE concentrations were confirmed by inductively coupled plasma mass spectrometry (ICP-MS). Results HREEs induced concentration-related DD increases in P. lividus and A. lixula larvae, ranging from no significant DD increase at 10 −7 M HREEs up to ≅100% DD at 10 −5 M HREE. Larvae exposed to 10 −5 M Ce(III) resulted in less severe DD rates compared to HREEs. Decreased mitotic activity and increased aberration rates were found in HREE-exposed P. lividus embryos. Significant increases in ROS formation and NO levels were found both in HREE-exposed and in Ce(III) embryos, whereas only Ce(III), but not HREEs resulted in significant increase in MDA levels. Sperm exposure to HREEs (10 −5 –10 −4 M) resulted in a concentration-related decrease in fertilization success along with increase in offspring damage. These effects were significantly enhanced for Dy(III), Ho(III), Er(III) and Yb(III), compared to Lu(III) and to Ce(III). Conclusion HREE-associated toxicity affected embryogenesis, fertilization, cytogenetic and redox endpoints showing different toxicities of tested HREEs. [ABSTRACT FROM AUTHOR]

Background Broad-ranging adverse effects are known for rare earth elements (REE), yet only a few studies tested the toxicity of several REE, prompting studies focusing on multi-parameter REE toxicity. Methods Trichloride salts of Y, La, Ce, Nd, Sm, Eu and Gd were tested in Paracentrotus lividus sea urchin embryos and sperm for: (1) developmental defects in either REE-exposed larvae or in the offspring of REE-exposed sperm; (2) fertilization success; (3) mitotic anomalies in REE-exposed embryos and in the offspring of REE-exposed sperm, and (4) reactive oxygen species (ROS) formation, and malondialdehyde (MDA) and nitric oxide (NO) levels. Results REEs affected P. lividus larvae with concentration-related increase in developmental defects, 10 −6 to 10 −4 M, ranking as: Gd(III)>Y(III)>La(III)>Nd(III)≅Eu(III)>Ce(III)≅Sm(III). Nominal concentrations of REE salts were confirmed by inductively coupled plasma mass spectrometry (ICP-MS). Significant increases in MDA levels, ROS formation, and NO levels were found in REE-exposed embryos. Sperm exposure to REEs (10 −5 to 10 −4 M) resulted in concentration-related decrease in fertilization success along with increase in offspring damage. Decreased mitotic activity and increased aberration rates were detected in REE-exposed embryos and in the offspring of REE-exposed sperm. Conclusion REE-associated toxicity affecting embryogenesis, fertilization, cytogenetic and redox endpoints showed different activities of tested REEs. Damage to early life stages, along with redox and cytogenetic anomalies should be the focus of future REE toxicity studies. [ABSTRACT FROM AUTHOR]

Undifferentiated embryonal sarcoma of the liver (UESL) represents a heterogeneous group of tumors derived from mesenchymal tissues. Earlier cytogenetic studies in limited cases demonstrated that UESL is associated with a recurrent translocation t(11;19)(q11;q13.3-q13.4) or add(19)(q13.4). In this report, we present our array comparative genomic hybridization (aCGH), fluorescence in situ hybridization (FISH) findings, and a missense mutation of TP53 gene by DNA sequencing in a 19-year-old patient with UESL. The data were compared to laboratory findings reported by previous studies. [ABSTRACT FROM AUTHOR]

Abstract: The aim of this study was to evaluate the toxicity of two rare earth elements (REE), cerium and lanthanum on sea urchin embryos and sperm. Sea urchin (Paracentrotus lividus) embryos were reared for 72h in Ce(IV)- or La(III)-contaminated seawater at concentrations ranging from 10−8 to 10−5 M. Cleaving embryos (5h post-fertilization) were submitted to cytogenetic analysis, scoring mitotic activity and a set of mitotic aberrations. Embryological analysis was carried out to determine percent developmental anomalies and/or embryonic mortality. P. lividus sperm were suspended in Ce(IV) or La(III) (10−8–10−5 M) for 1h, and percent fertilized eggs were scored in cleaving embryos that were cultured up to pluteus stage to score any developmental defects. Embryos reared in 10−5 M Ce(IV) resulted in 100% embryonic mortality, whereas 10−5 M La(III) induced 100% developmental defects, without causing any embryonic mortality. A significant concentration-related mitotoxic effect and induction of mitotic aberrations were observed in Ce(IV)-exposed, but not in La(III)-exposed embryos, at concentrations ranging from 10−7 M to 3×10−6 M. Following sperm exposure, both Ce(IV) and La(III) induced a decrease in sperm fertilization success at the highest tested concentration (10−5 M). The offspring of Ce(IV)-exposed, but not of La(III)-exposed sperm displayed a significant concentration-related increase in developmental defects. The results may suggest adverse impacts in REE-exposed biota and warrant further studies of a more extended REE series. [Copyright &y& Elsevier]

Human sperm chromosomes can be visualized after their fusion with zona-free hamster eggs. We analyzed a total of 867 metaphases from 33 men that had been classified into three different groups. We present a detailed summary of the kind and frequency of chromosome aberrations we encountered. A comparison of our results with previous studies demonstrates considerable variations in numerical and structural chromosome anomalies in spermatozoa from normal, healthy men. The possible reasons for this are discussed. We reviewed some factors which are supposed to correlate with the occurrence of sperm chromosome aberrations; the effect of paternal age is still uncertain. [ABSTRACT FROM AUTHOR]

The review covers the analysis of our own and published data pertaining to population and genetic consequences in various mammalian species under conditions of high levels of ionizing radiation as a result of the Chernobyl accident. The findings indicate that these conditions have promoted the reproduction of heterozygotes in polyloci spectra of molecular genetic markers and animals with a relatively increased stability of the chromosomal apparatus. The prospects of using the reproductive "success" of the carriers of these characteristics as an integral indicator of the selective influence of environmental stress factors are discussed.