Immune phenotype of the endometrium in patients with recurrent implantation failures after the transfer of genetically tested embryos in assisted reproductive technology programs.

Recurrent implantation failures (RIF) in assisted reproduction programs are one of the most challenging problems. Among the factors that can adversely affect implantation, endometrial immune structural disorders may be one of the leading causes. The aim of our work was to study the immune features of the endometrium in women with RIF after genetically tested embryo transfer in comparison with fertile gestational carriers.

PLACENTAL MOSAICISM: COMPLETE DISCORDANCE BETWEEN THE PLACENTA AND THE FETUS. CLINICAL CASE RECORD.

NIPT with the analysis of all chromosomes for aneuploidy screening. Chromosomal microarray 750K, routine karyotyping and Whole-exome sequencing and Sanger sequencing were used for the analysis of the clinical situation Sonographic fetal abnormalities were accompanied by the placental mosaicism (trisomy 16), fetal partial uniparental disomy of the short arm of chromosome 16. NIPT with the analysis of all chromosomes is a powerful tool to identify placental mosaicism, which in turn can manifest itself as nonspecific abnormalities in biochemical markers, placental dysfunction, growth retardation, fetal malformations, preterm birth, etc.

Novel mutations in genes encoding subcortical maternal complex proteins may cause human embryonic developmental arrest.

Successful human reproduction initiates from normal gamete formation, fertilization and early embryonic development. Abnormalities in any of these steps will lead to infertility. Many infertile patients undergo several failures of IVF and intracytoplasmic sperm injection (ICSI) cycles, and embryonic developmental arrest is a common phenotype in cases of recurrent failure of IVF/ICSI attempts.

Chromosomal abnormalities in products of conception of first-trimester miscarriages detected by conventional cytogenetic analysis: a review of 1000 cases.

Purpose: The purpose of this study is to perform a retrospective analysis of types and frequencies of chromosomal abnormalities detected by conventional cytogenetic studies in first-trimester miscarriages after spontaneous conception and IVF.

Methods: Standard cytogenetic analysis of GTG-banded chromosomes obtained from products of conception (POCs): semi-direct and short-term cultured chorionic villi or long-term cultured fetal mesodermal cells.

Results: 50.

[Not Available].

In the previous cytogenetic study of new human stem cell line 4BL at the 205th passage we observed the ploidy of chromosomal set and regular aberrations. To investigate the nature of monosomy of certain chromosomes the array CGH and FISH analyses have been used. The aberrations of chromosomes have been identified in all the cases of monosomies previously revealed by G-banding.

A case of prenatal detection of a de novo unbalanced complex chromosomal rearrangement involving four chromosomes.

Complex chromosomal rearrangements are rarely observed prenatally. Genetic counceling of CCR carriers is complicated, especially in cases of de novo origin of the rearrangement. Here we present a new case of a de novo CCR involving four chromosomes observed in amniotic fluid cells of the fetus at 17 weeks of gestation.

Temozolomide promotes genomic and phenotypic changes in glioblastoma cells.

Background: Temozolomide (TMZ) is a first-line drug for the treatment of glioblastoma. Long-term TMZ-treated tumour cells acquire TMZ resistance by profound reprogramming of the transcriptome, proteome, kinome, metabolism, and demonstrate versatile and opposite changes in proliferation, invasion, in vivo growth, and drug cross-resistance. We hypothesized that chromosomal instability (CIN) may be implicated in the generation of TMZ-driven molecular and phenotype diversity.

mTOR inhibitor temsirolimus and MEK1/2 inhibitor U0126 promote chromosomal instability and cell type-dependent phenotype changes of glioblastoma cells.

The phosphatidylinositol 3-kinase (PI3K)/AKT/mammalian target of rapamycin (mTOR) and the RAF/mitogen-activated and extracellular signal-regulated kinase kinase (MEK)/extracellular signal-regulated kinase (ERK) signaling pathways are frequently deregulated in cancer. Temsirolimus (TEM) and its primary active metabolite rapamycin allosterically block mTOR complex 1 substrate recruitment. The context-/experimental setup-dependent opposite effects of rapamycin on the multiple centrosome formation, aneuploidy, DNA damage/repair, proliferation, and invasion were reported.

Step-wise and punctuated genome evolution drive phenotype changes of tumor cells.

The pattern of genome evolution can be divided into two phases: the step-wise continuous phase (step-wise clonal evolution, stable dominant clonal chromosome aberrations (CCAs), and low frequency of non-CCAs, NCCAs) and punctuated phase (marked by elevated NCCAs and transitional CCAs). Depending on the phase, system stresses (the diverse CIN promoting factors) may lead to the very different phenotype responses. To address the contribution of chromosome instability (CIN) to phenotype changes of tumor cells, we characterized CCAs/NCCAs of HeLa and HEK293 cells, and their derivatives after genotoxic stresses (a stable plasmid transfection, ectopic expression of cancer-associated CHI3L1 gene or treatment with temozolomide) by conventional cytogenetics, copy number alterations (CNAs) by array comparative genome hybridization, and phenotype changes by cell viability and soft agar assays.

A rare non-Robertsonian translocation with chromosome fusion der(5;15)(q35.3;q10): segregation analysis in male meiosis and preimplantation embryos.

Balanced chromosomal translocations do not normally have phenotypic manifestation, but lead to increased risk of infertility, miscarriage and live-birth of chromosomally unbalanced offspring in carriers. The risk assessment of such outcomes in carriers of rare chromosomal abnormalities is complicated since limited information is available on the frequencies of unbalanced sperm and embryo formation. Therefore, the aim of this study was to investigate the amount of normal/balanced and unbalanced sperm and embryos of a rare non-Robertsonian chromosome fusion carrier with karyotype 45,XY,der(5;15)(q35.

[Comparative analysis of a new human cell line 4BL karyotype at long-term cultivation. Ploidy of chromosomal set].

Long-term cultivation of human cells, including stem cells, can lead to substantial transformation of the karyotype and occurrence of genetic instability. The aim of this research was a comparative cytogenetic study of the karyotype of a new human stem cell line 4BL at 160 and 205 passages. The absence of 10 and 13 pairs of chromosomes and the monosomy of chromosomes 4, 8, 10, 11, 13, 15, 17, 21, X were observed; also six regular marker chromosomes were detected.

[Correction of DNA methylation disorder as a possible way to modulation of malignant cells drug resistance].

The role of DNA methylation in functioning of a normal and cancer cell is shown in this review. The value of methylation in functioning of the systems which are involved in the process of formation of malignant cells drug resistance phenotype (regulator proteins of cellular cycle, DNA-adducts reparation, transport systems, systems of detoxication and adhesion) is explicated. The prospects of the antineoplastic therapy directed to regulation of DNA methylation by means of homocysteine and demethylation agents are analyzed.