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.

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.

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.