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In the 2020 World Health Organization classification, for the first time, three new groups of tumors were formalized, initially isolated from the group of undifferentiated round cell sarcomas, the so-called Ewing-like sarcomas, namely sarcoma with BCOR genetic alterations, CIC-rearranged sarcoma and sarcomas with EWSR1 gene rearrangement with atypical (non-ETS family) partner genes. This review will focus on sarcoma with BCOR genetic alterations, which will be illustrated by one of our clinical case, characterized by relatively typical features, both in terms of morphological presentation and immunophenotype, and in terms of biological behavior and response to tumor therapy. The patient's parents gave their consent to the use of their child's data, including photographs, for research purposes and in publications.

We studied the effect of extracellular vesicles of the follicular fluid on morphofunctional characteristics of human spermatozoa using CASA (computer-assisted sperm analysis) analytical system. The vesicles were obtained by sequential centrifugation at different rotational speeds and frozen at -80°C in the Sydney IVF Gamete Buffer medium. The sperm fraction was isolated from the seminal fluid of 21 patients aged 27-36 years by differential centrifugation in a density gradient. The precipitate was suspended in Sydney IVF Gamete Buffer to a concentration of 106/ml and incubated with vesicles (1:2) at 37°C in a CO2 incubator for 30 min and 1 h. Sperm fraction incubated without vesicles served as the control. After incubation, some sperm samples were centrifuged at 700g for 5 min and fixed in 2.5% glutaraldehyde in 0.1 M buffer for transmission electron microscopy. After 30-min and 1-h incubation, the progressive and total sperm motility improved, the curvilinear and linear velocity of spermatozoa did not change significantly. Incubation with vesicles significantly changed the trajectory of sperm movement, which can attest to an increase in their hyperactivation and, probably, fertilizing capacity. Analysis of the effect of extracellular vesicles of follicular fluid on sperm motility will help to improve the effectiveness of assisted reproductive technology programs with male infertility factor by improving sperm characteristics in patients with asthenozoospermia and increasing the fertilizing ability of the sperm.

Introduction. Despite the availability of general principles and regimens for ovarian stimulation on the assisted reproductive technology (ART) programs, an individual situational modification is required in each specific case.Objective. To optimize the ovarian stimulation protocols on the ART program based on the clinical and medical history records of the married couple.Materials and methods.The clinical and medical history records, as well as the stimulation cycle parameters of 60 married couples were analysed. The married couples enrolled in this study were diagnosed with infertility caused by tubo-peritoneal (44 married couples), male (5 married couples), combined factor (6 married couples), as well as external genital endometriosis combined with a male factor (3 married couples), and tubo-peritoneal factor (2 married couples). All married couples underwent IVF/ICSI procedures under the gonadotropin-releasing hormone antagonist (GnRH-ant) protocol and ovarian stimulation on day 2 or 3 of the menstrual cycle.Results. All married couples were divided into two groups: 38 couples with a negative implantation result and 20 married couples with positive implantation results. The surgical removal of fallopian tubes has been shown to be inversely correlated with the duration of infertility. The use of hCG positively correlates to the ratio of mature oocytes and oocyte-cumulus complexes (OCC) and the onset of pregnancy. A reduced percentage of morphologically healthy sperm with an overall high concentration of sperm in the ejaculate can be interpreted as fertile sperm.Conclusions. During ovarian stimulation on the ART program, special attention should be paid to the duration of stimulation, the types of interventions for triggering final oocyte maturation and the total gonadotropin dose. A differentiated approach to conducting the surgical removal of fallopian tubes is required. The reduced percentage of morphologically healthy sperm with an overall high concentration of sperm in the ejaculate serves as a favourable prognostic factor for the outcome of ART programs.

Introduction. Comparative analysis of urinary and recombinant gonadotropins is ongoing to improve the efficiency of assisted reproductive technology programs. Particular interest focused on the identification of individual groups of patients with maximal efficacy of using certain ovarian stimulation drugs in an assisted reproductive technology program.Objective. To review the application of Menopur Multidose 1200 IU for ovarian stimulation in assisted reproductive technology protocols with gonadotropin-releasing hormone agonists (GnRH) or gonadotropin-releasing hormone antagonists (GnRH antagonists) in the current clinical practice.Materials and methods. The study retrospectively enrolled 4,080 women aged 20-43 years. Ovarian stimulation in the Assisted Reproductive Technology program was performed using the GnRH antagonist protocol in 65.8% of patients and the GnRH agonist protocol with Menopur Multidose 1200 IU with or without the additional Menopur 75 IU in 34.2% of women.Results. Clinical and laboratory data of the patients, stimulated cycle parameters, characteristics of the embryological stage, and results of the assisted reproductive technology program were analyzed. The frequency of obtaining degenerated oocytes did not exceed 5%. The relative number of blastocysts of good quality was 59.9%, while for patients in the older age group, the figure was 54.6. The average pregnancy rate in patients in the “Menopur Multidose 1200 IU p/k” group was 39.3%, which corresponds to high-performance indicators of the assisted reproductive technology program.Conclusions. Administration of highly purified human menopausal gonadotropin (hMG) (Menopur Multidose 1200 IU) to stimulate ovarian function in patients of different ages is accompanied by an adequate number of mature oocytes, good quality blastocysts, and satisfactory clinical pregnancy rates. Thus, highly purified human menopausal gonadotropin is not inferior to recombinant follicle-stimulating hormone(r-FSH) concerning the efficacy of assisted reproductive technology programs.

Cumulus cells are essential during oocytes growth and development, as well as during their maturation and fertilization. Research results have shown that embryo co-cultivation with autologous cumulus cells increases the frequency of blastocyst formation, and also improves the effectiveness of ART programs. Embryo transfer in such programs is recommended to be carried out using the CAT technology (Cumulus-Aided embryo Transfer), which includes embryo cultivation on a layer of cumulus cells and embryo transfer with a certain amount of diluted cumulus cells. Patient G., 38 years old, came to the department with infertility for 15 years and recurrent implantation failure in history. The patient had ART program with autologous co-cultivation of embryos with cumulus cells and a new CAT transfer technology. The patient fell pregnant and gave birth to a healthy child. Autologous cumulus cells can be a source of biologically active substances and improve embryological parameters and implantation rate in ART programs. Embryo co-cultivation with cumulus cells is especially important for patients with recurrent implantation failure. This technique can become an alternative for optimizing human embryos culturing.

Aim. Aim of the study was to the effectiveness of various endometrial preparation protocols in IVF frozen embryo transfer cycles. Materials and methods. The study included 288 women, which were stratified into two groups depending on the onset of pregnancy: group 1 pregnancy + (n=92), group 2 pregnancy - (n=196). Then endometrium preparation features were evaluated. Results. The pregnancy rate after frozen-thawed embryo transfer was a bit higher in the natural menstrual cycle (41.2%) compared to the hormonal replacement therapy (30.0%); p=0.083. There were no significant differences in the use of various estrogen and progestogen drugs, the average estrogen dose, progestogen administration and the endometrium thickness. In the natural cycle, the odds ratio of pregnancy with the duration menstrual cycle from 28 to 30 days was 4.25 (95% CI 1.15; 17.23). Conclusion. Thus, the pregnancy rate is slightly higher in natural cycle frozen-thawed embryo transfer. However, the duration of the menstrual cycle (from 28 to 30 days) has a key effect on the effectiveness of the IVF program in this case.

The problem of the symbolic in the context of modern humanitarian knowledge occupies a special place in connection with the statement of the dialogue of cultures and eras and the need to determine the origins of interpretation. The article presents an analysis of the image of Faust and the theme of love from the position of the theory of the symbol. It is argued that, going beyond the boundaries of the part of the tragedy of J. W. Goethe, the image of Faust becomes something that in its meaning approaches the symbol. This phenomenon is accompanied by transformation into other specific incarnations and refraction of worldview constructs. The paper discusses the features of the theory of the symbol of Russian researchers of the twentieth century: A. F. Losev, Y. M. Lotman, S. S. Averintsev. The interpretation of the theme of love is based on the philosophical views of V. S. Solovyov. It is concluded that both a work of art, its episode, and an image can be fully covered only through the theory of symbol.

For in vitro fertilization technology, the quality of oocytes has a direct impact on the egg fertilization and developmental competence of early embryo. The morphological criteria are used for the estimation of oocyte quality before its fertilization in vitro. To date, only one method is known to determine the maturity of oocyte. This is the routine observation with a light microscope. The aim of this article was to adapt the noninvasive quantitative laser scanning microtomography (QLSM) for the investigation of morphological features of a human oocyte in vitro. This approach was used to accumulate the Z-stack gallery of optical sections of IVF oocyte. The layer-by-layer acquisition allows the fine cytoplasmic structure imaging. Applying the QLSM Z-stack of optical sections, the cellular volume was calculated with quantitative 3D reconstruction of a human oocyte. The volume value and intracellular structure were used as novel criteria to assess the oocyte state after the stress evoked by cryopreservation procedure.

For in vitro fertilization technology, the quality of oocytes has a direct impact on the egg fertilization and developmental competence of early embryo. The morphological criteria are used for the estimation of oocyte quality before its fertilization in vitro. To date, only one method is known to determine the maturity of oocyte. This is the routine observation with a light microscope. The aim of this article was to adapt the noninvasive quantitative laser scanning microtomography (QLSM) for the investigation of morphological features of a human oocyte in vitro. This approach was used to accumulate the Z-stack gallery of optical sections of IVF oocyte. The layer-by-layer acquisition allows the fine cytoplasmic structure imaging. Applying the QLSM Z-stack of optical sections, the cellular volume was calculated with quantitative 3D reconstruction of a human oocyte. The volume value and intracellular structure were used as novel criteria to assess the oocyte state after the stress evoked by cryopreservation procedure.

Using a non-invasive approach, quantitative laser scanning microtomography (QLSM), the morphology of human oocyte was studied layer-by-layer. Then, the cell volume was computed based on 3D reconstruction of a stack of optical sections obtained by QLSM. The integrity of oocyte membrane after cryopreservation was assessed by measuring the changes in oocyte volume in response to hypotonic shock.

We summarized the data on the role and efficiency of mechanical microvibration during embryo culturing in assisted reproduction protocols. The efficiency of culturing systems with microvibration in assisted reproduction programs and possible mechanisms of microvibration effect on the preimplantation development of human embryos are discussed.

Despite the improvements in biotechnological approaches and the selection of controlled ovarian hyperstimulation protocols, the resulting pregnancy rate from in vitro fertilization (IVF) protocols still does not exceed 30–40%. In this connection, there is an acute question of the development of a non-invasive, sensitive, and specific method for assessing the implantation potential of an embryo. A total of 110 subfertile couples were included in the study to undergo the IVF/ICSI program. Obtained embryos for transfer into the uterine cavity of patient cohort 1 (n = 60) and cohort 2 (n = 50) were excellent/good-quality blastocysts, and small noncoding RNA (sncRNA) content in the corresponding spent culture medium samples at the morula stage (n = 43) or at the blastocyst stage (n = 31) was analyzed by deep sequencing followed by qRT-PCR in real time. Two logistic regression models were developed to predict the implantation potential of the embryo with 100% sensitivity and 100% specificity: model 1 at the morula stage, using various combinations of hsa_piR_022258, hsa-let-7i-5p, hsa_piR_000765, hsa_piR_015249, hsa_piR_019122, and hsa_piR_008112, and model 2 at the blastocyst stage, using various combinations of hsa_piR_020497, hsa_piR_008113, hsa-miR-381-3p, hsa_piR_022258, and hsa-let-7a-5p. Protein products of sncRNA potential target genes participate in the selective turnover of proteins through the ubiquitination system and in the organization of the various cell cytoskeleton and nucleoskeleton structures, regulating the activity of the Hippo signaling pathway, which determines the fate specification of the blastomers.

SummaryThe aim was to identify cell and genetic predictors of human blastocyst hatching success in assisted reproduction programmes via a prospective case–control study. Blastocysts, donated by couples in assisted reproduction programmes were used. Hatching success assessment was performed after 144–146 h post-fertilization. The mRNA expression levels of cathepsin V (CTSV), GATA-binding protein 3 (GATA3) and human chorionic gonadotropin beta subunit 3, 5, 7 and 8 (CGB) genes were detected by quantitative real-time polymerase chain reaction. The odds ratio (OR) of hatching due to zona pellucida (ZP) thickness, oocyte and sperm quality, embryo quality and mRNA expression of CTSV, GATA3 and CGB genes in blastocysts was determined. From 62 blastocysts included in the study, 47 (75.8%) were unable to hatch spontaneously. The ZP thickening, and oocyte and sperm quality did not affect human blastocyst ability to hatch, except the combination of cytoplasmic and extracytoplasmic oocyte dysmorphisms (OR = 1.25; 95% confidence interval = 1.08, 1.45). Hatching-capable blastocysts had higher Gardner scale grade and mRNA expression of CTSV, GATA3 and CGB genes than hatching-incapable blastocysts. The human blastocyst hatching success depends on the blastocyst Gardner grade, but not on ZP and gamete quality. Blastocyst development was regulated by CTSV, GATA3 and CGB gene expression.

The aim of this study was to determine the changes of metabolomic profiles in embryonic culture media (ECM) for the evaluation of quality and implantation potential of human embryos. ECM (n=163) were collected on day 5 before transfer or cryopreservation. Some embryos were used in preimplantation genetic screening for detection of aneuploidy karyotypes. Samples were subdivided into groups according to embryo morphological classification (by Gardner), genetic analysis and implantation data. ECM were extracted with methanol, precipitates were separated by centrifugation and metabolite production of individual embryo was analysed by LC-MS (the positive ion mode). After peak detection and retention time alignment, data were analysed using the PCA algorithm. MS fingerprinting analysis of embryo culture medium showed significant differences between morphologically divided groups. Intragroup comparisons did not reveal differences between subclasses. Genetic screening of embryos revealed 33 aneuploid karyotypes. It was shown that chromosome number did not affect the metabolite profiles comparing with the normal group. The culture media of embryos that were positive or negative for successful implantation showed specific signatures that allowed to distinguish embryos with different outcomes.The characterization of ECMs by LC-MS may facilitate more accurate selection of the best embryo for the implantation, improving single-embryo transfer and thus eliminating the risk and undesirable effects of multiple pregnancies.Tsel'iu issledovaniia iavlialos' opredelenie izmeneniia profileĭ metabolitov v émbrional'nykh pitatel'nykh sredakh (ÉPS) dlia otsenki kachestva i implantatsionnogo potentsiala kul'tiviruemykh émbrionov cheloveka. ÉPS (163 sht.) byli sobrany na 5-ĭ den' do perenosa ili kriokonservatsii émbrionov. Chast' émbrionov voshla v programmu predimplantatsionnogo geneticheskogo skrininga s tsel'iu obnaruzheniia aneuploidnykh kariotipov. Obraztsy byli razdeleny na gruppy soglasno morfologicheskoĭ klassifikatsii émbrionov (po Gardneru) v sootvetstvii s dannymi geneticheskogo analiza i informatsii ob implantatsii posle perenosa. ÉPS ékstragirovali metanolom, osadok otdeliali tsentrifugirovaniem i produktsiiu metabolitov otdel'nykh émbrionov detektirovali s ispol'zovaniem VÉZhKh-MS v rezhime polozhitel'nykh ionov. Posle obnaruzheniia pikov i vyravnivaniia khromatogramm dannye obrabatyvali pri pomoshchi analiza glavnykh komponent (PCA). Profilirovanie metabolitov v ÉPS vyiavilo sushchestvennye razlichiia mezhdu morfologicheskimi klassami émbrionov. Vnutrigruppovye sravneniia ne obnaruzhili dostovernykh otlichiĭ mezhdu predstaviteliami odnogo klassa. Geneticheskiĭ skrining émbrionov vyiavil 33 anéuploidnykh kariotipa. Bylo pokazano, chto chislo khromosom ne vliiaet na profil' metabolitov po sravneniiu s normal'noĭ gruppoĭ émbrionov togo zhe klassa. V ÉPS implantirovavshikhsia i neimplantirovavshikhsia émbrionov byli vyiavleny spetsificheskie molekuliarnye signatury, pozvoliaiushchie differentsirovat' émbriony s raznym iskhodom implantatsii. Predpolagaetsia, chto profilirovanie metabolitov v ÉPS s pomoshch'iu VÉZhKh-MS mozhet sposobstvovat' bolee tochnomu otboru dlia perenosa odnogo émbriona s tsel'iu snizheniia riska nezhelatel'nykh posledstviĭ mnogoplodnoĭ beremennosti.

The human oocyte is surrounded by the zona pellucida—an elastic, transparent extracellular matrix consisting of specific glycoproteins. The zona pellucida is preserved after fertilization and surrounds the developing human embryo for a few days. The embryo needs to get out of the zona pellucida before implantation to establish cell contacts between the trophectoderm and endometrial epithelium. The release of the embryo from the zona pellucida is carried out at the stage of the blastocyst and called zona hatching. During zona hatching the blastocyst breaks the zona pellucida and performs active movements to escape through a gap formed in the zona. While microscopic description of zone hatching is well known, biochemical and cytological basis of zone hatching remains poorly understood. The break of the zona pellucida occurs under the influence of two forces: mechanical pressure of the growing blastocyst on the zone and chemical dissolution of the zone material with secreted lytic enzymes. There is only one paper (Sathananthan et al., 2003), which describes the specialized cells in the trophectoderm that locally dissolve the zona pellucida, promoting the emergence of the hole for blastocyst release. Taking into account the singleness of the paper and the absence of further development of this subject by the authors in the following decade, the existence of specialized cells for zone hatching should be assumed with great care. Lytic enzymes, secreted by cells of the trophectoderm for dissolving the zona pellucida, are different. Depending on the species of the mammal, different classes of proteases participate in the zone hatching process: serine proteases, cysteine proteases, metal-loproteinases. Proteases, secreted by human trophectoderm, are not described. The mechanisms of the active movement during blastocyst hatching are investigated to a lesser degree. Only the involvement of the cytoskeleton of trophectoderm cells in the mechanism of blastocyst compression was shown, and the participation of desmosomes in the coordinated change in the form of trophectoderm cells during compression is suggested. This review summarizes literature data on the possible mechanisms of zone hatching in the development of human embryos, obtained in experiments in vitro, as well as in animal models.

Small noncoding RNAs (sncRNAs) are key regulators of the majority of human reproduction events. Understanding their function in the context of gametogenesis and embryogenesis will allow insight into the possible causes of in vitro fertilization (IVF) implantation failure. The aim of this study was to analyze the sncRNA expression profile of the spent culture media on day 4 after fertilization and to reveal a relationship with the morphofunctional characteristics of gametes and resultant embryos, in particular, with the embryo development and implantation potential. Thereto, cell-free, embryo-specific sncRNAs were identified by next generation sequencing (NGS) and quantified by reverse transcription coupled with polymerase chain reaction (RT-PCR) in real-time. Significant differences in the expression level of let-7b-5p, let-7i-5p, piR020401, piR16735, piR19675, piR20326, and piR17716 were revealed between embryo groups of various morphological gradings. Statistically significant correlations were found between the expression profiles of piR16735 and piR020401 with the oocyte-cumulus complex number, let-7b-5p and piR020401 with metaphase II oocyte and two pronuclei embryo numbers, let-7i-5p and piR20497 with the spermatozoid count per milliliter of ejaculate, piR19675 with the percentage of linearly motile spermatozoids, let-7b-5p with the embryo development grade, and let-7i-5p with embryo implantation. According to partial least squares discriminant analysis (PLS-DA), the expression levels of let-7i-5p (Variable Importance in Projection score (VIP) = 1.6262), piR020401 (VIP = 1.45281), and piR20497 (VIP = 1.42765) have the strongest influences on the implantation outcome.

Chromosomal aneuploidies are known for being the main cause of abnormal development of embryos with normal morphology, their implantation failure and early reproductive losses in IVF treatments. Preimplantation genetic screening (PGS) allows selecting embryos with normal chromosomal content and increases IVF treatment efficiency due to higher implantation rates and less frequent early pregnancy losses. New technologies used for PGS allow making genome-wide analysis of the presence of all chromosomes in embryos. This article presents our study of evaluation of two techniques used for PGS: previously developed and used in our laboratory a-CGH assay based on Agilent technology and newly tested semi-conductive NGS technique (Torrent technology).

Objective: systematic review to determine the role of assisted hatching in the IVF cycles. Materials and methods. We searched the MEDLINE base (2005 to February 2016) and included all articles related to the question. Results. Possible mechanisms and efficiency of assisted hatching in embryo implantation are described below as well as possible factors that influence the efficiency of spontaneous hatching. Conclusions. The included trials provided insufficient data to investigate the role of different types of the assisted hatching in clinical pregnancy rate, live birth rate and development of multiple gestations.

The human oocyte is surrounded by the zona pellucida—an elastic, transparent extracellular matrix consisting of specific glycoproteins. The zona pellucida is preserved after fertilization and surrounds the developing human embryo for a few days. The embryo needs to get out of the zona pellucida before implantation to establish cell contacts between the trophectoderm and endometrial epithelium. The release of the embryo from the zona pellucida is carried out at the stage of the blastocyst and called zona hatching. During zona hatching the blastocyst breaks the zona pellucida and performs active movements to escape through a gap formed in the zona. While microscopic description of zone hatching is well known, biochemical and cytological basis of zone hatching remains poorly understood. The break of the zona pellucida occurs under the influence of two forces: mechanical pressure of the growing blastocyst on the zone and chemical dissolution of the zone material with secreted lytic enzymes. There is only one paper (Sathananthan et al., 2003), which describes the specialized cells in the trophectoderm that locally dissolve the zona pellucida, promoting the emergence of the hole for blastocyst release. Taking into account the singleness of the paper and the absence of further development of this subject by the authors in the following decade, the existence of specialized cells for zone hatching should be assumed with great care. Lytic enzymes, secreted by cells of the trophectoderm for dissolving the zona pellucida, are different. Depending on the species of the mammal, different classes of proteases participate in the zone hatching process: serine proteases, cysteine proteases, metalloproteinases. Proteases, secreted by human trophectoderm, are not described. The mechanisms of the active movement during blastocyst hatching are investigated to a lesser degree. Only the involvement of the cytoskeleton of trophectoderm cells in the mechanism of blastocyst compression was shown, and the participation of desmosomes in the coordinated change in the form of trophectoderm cells during compression is suggested. This review summarizes literature data on the possible mechanisms of zone hatching in the development of human embryos, obtained in experiments in vitro, as well as in animal models.

We analyzed the effect of cryopreservation on the expression of glutathione peroxidase (GPX1) and glutathione reductase (GSR) genes in human sperm cells (15 sperm samples from fertile donors and 10 samples from infertile patients). The relative expression of GPX1 and GSR genes was determined by real-time PCR. The rate of post-thaw recovery was 2.1 times higher in the group of fertile donors. A significant increase in the expression of GPX1, but not GSR, was observed in sperm samples from infertile patients, while in patients with infertility, GPX1 expression significantly decreased after cryopreservation/thawing, in samples from fertile donors after the same procedure it increased to the level observed in the sperm samples from infertile patients. A positive correlation was revealed between GPX1 expression and sperm cryotolerance.

Purpose: To evaluate the aneuploidy rates of 13, 18, and 21 and the X and Y chromosomes in embryos from patients with morphologically normal oocytes and different oocyte dysmorphisms.Methods: This prospective cohort study included 84 patients treated with in vitro fertilization (IVF) at a single academic center. The patients were divided into the following three groups: group 1 – women with cytoplasmic dysmorphisms (n = 28), group 2 – women with extracytoplasmic dysmorphisms (n = 28), and group 3 – women with morphologically normal oocytes (n = 28). One blastomere from each embryo was analyzed for aneuploidies of chromosomes 13, 18, 21, X, and Y.Results: The highest prevalence of aneuploid embryos was observed in the group 1 (68.4%) followed by the group 2 (38.9%) and the group 3 (31.3%) (р

We analyzed the effect of cryopreservation on the expression of glutathione peroxidase (GPX1) and glutathione reductase (GSR) genes in human sperm cells (15 sperm samples from fertile donors and 10 samples from infertile patients). The relative expression of GPX1 and GSR genes was determined by real-time PCR. The rate of post-thaw recovery was 2.1 times higher in the group of fertile donors. A significant increase in the expression of GPX1, but not GSR, was observed in sperm samples from infertile patients, while in patients with infertility, GPX1 expression significantly decreased after cryopreservation/thawing, in samples from fertile donors after the same procedure it increased to the level observed in the sperm samples from infertile patients. A positive correlation was revealed between GPX1 expression and sperm cryotolerance.

Introduction Up to 2% of newborn children have untreatable monogenic disorder. Preconception carrier screening is performed rarely. If a sperm donor is a carrier of mutation causing of frequent monogenic disorder probability of having a child with monogenic disorders raises dramatically. The aim of the study was to investigate frequency of monogenic disorder carrying for men who meet all requirements for being sperm donors. Material & methods DNA from sperm samples was extracted using New iGENatal kit. Whole exome sequencing of 25 samples was performed using Ion S5 sequencers and Ion AmpliSeq Exome RDY Kit. Read mapping and variant calling was performed using Torrent Suite software. Variant annotation was performed with Variant effect predictor tool. Results & Conclusions 15 men (60%) were carriers of at least 1 pathogenic mutation associated with an autosomal recessive disorder. 6 (24%) were carriers of a disorder with population carrier frequency 1/250 and higher. With no tests for second parent the probability of having a child with a monogenic disorder is higher than 1/1000. This result demonstrates the importance of preconception carrier screening, particularly in IVF programs using donor sperm. The study is supported by the Ministry of Healthcare of Russian Federation

Aneuploidies as quantitative chromosome abnormalities are a main cause of failed development of morphologically normal embryos, implantation failures, and early reproductive losses. Preimplantation genetic screening (PGS) allows a preselection of embryos with a normal karyotype, thus increasing the implantation rate and reducing the frequency of early pregnancy loss after IVF. Modern PGS technologies are based on a genome-wide analysis of the embryo. The first pilot study in Russia was performed to assess the possibility of using semiconductor new-generation sequencing (NGS) as a PGS method. NGS data were collected for 38 biopsied embryos and compared with the data from array comparative genomic hybridization (array-CGH). The concordance between the NGS and array-CGH data was 94.8%. Two samples showed the karyotype 47,XXY by array-CGH and a normal karyotype by NGS. The discrepancies may be explained by loss of efficiency of array-CGH amplicon labeling.

A large proportion of human oocytes received from exogenous gonadotropin-stimulated cycles have different morphological attributes, or dysmorphisms. The presence of dysmorphism can affect the fertilization rate, the embryo quality and subsequently the frequency of occurrence of implantation and pregnancy. Special attention is paid to oocytes with cytoplasmic attributes such as alteration of cytoplasmic granularity, the appearance of vacuoles, lipofuscin bodies and visible (large) aggregates of smooth endoplasmic reticulum. Endoplasmic reticulum (ER) is a type of the organelle forming an interconnected network of flattened, membrane-enclosed sacs or tubes. One of the main functions of ER in the oocyte is storage and redistribution of calcium, which provides cell activation during fertilization. Furthermore, complex of ER and mitochondria is necessary for accumulation of energy, synthesis of lipids and triglycerides, as well as synthesis of cytosolic and nuclear membranes during the early stages of cleavage. The appearance of anomalously large aggregates of ER in oocytes correlates with a low fertilization rate, low embryo quality, and pregnancy rate. The aim of the manuscript is to summarize current understanding of the mechanism of formation of such pathology of oocytes, together with special aspects of their fertilization and embryo quality.

For a period of 2002-2009 according to indexes of morbidity was examined dynamics of morbidity of staff of Privolzhsko-Uralskij military region among soldiers and sergeants, of unit weight of PIDST, of unit weight of incapacity days, was observed seasonality. Was found a mid-year increase of index of morbidity among call-up staff on 6.84%, and among contract military servicemen--on 4.5%. PIDST take about 18% of incapacity days in structure of all workmisses of call-up military servicemen and about 7% among contract military servicemen. Was found a seasonality of one-wave type with a top of annual morbidity in August-October and decrease in first decade of November. There is a need of examination of immune status of persons of call-up age.