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Clinical Aspects of a New Coronavirus Infection 一种新型冠状病毒感染的临床特征
Doctor.Ru Pub Date : 2022-01-01 DOI: 10.31550/1727-2378-2022-21-2-40-45
L. Eliseeva, N. Borovkova, P. S. Zubeev, G. Zubeeva
{"title":"Clinical Aspects of a New Coronavirus Infection","authors":"L. Eliseeva, N. Borovkova, P. S. Zubeev, G. Zubeeva","doi":"10.31550/1727-2378-2022-21-2-40-45","DOIUrl":"https://doi.org/10.31550/1727-2378-2022-21-2-40-45","url":null,"abstract":"Objective of the Review: to analyze the available data on the etiology, pathogenesis, diagnosis and treatment of a new coronavirus infection. Key points. In 2020, the whole world was engulfed by a pandemic of a new viral disease, which was called the coronavirus disease СOVID-19. We have considered aspects of the etiology, pathogenesis, diagnosis, and treatment of this infection. One of the most difficult issues is the therapy of COVID-19, since the course of the disease exacerbates the development of a cytokine storm. Conclusion. When choosing a patient's treatment tactics, it is necessary to comprehensively assess possible adverse events, strive to minimize their occurrence. Keywords: new coronavirus infection, COVID-19, angiotensin i converting enzyme 2, cytokine storm.","PeriodicalId":11479,"journal":{"name":"Doctor.Ru","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79253034","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Mechanisms and Clinical Significance of Hepatic Fibrogenesis in Iron Overload 铁超载导致肝纤维化的机制及临床意义
Doctor.Ru Pub Date : 2022-01-01 DOI: 10.31550/1727-2378-2022-21-2-23-29
D. Garbuzenko
{"title":"Mechanisms and Clinical Significance of Hepatic Fibrogenesis in Iron Overload","authors":"D. Garbuzenko","doi":"10.31550/1727-2378-2022-21-2-23-29","DOIUrl":"https://doi.org/10.31550/1727-2378-2022-21-2-23-29","url":null,"abstract":"Objective of the Review: To describe the mechanisms and clinical significance of hepatic fibrogenesis in iron overload in patients with hereditary hemochromatosis and chronic hepatic conditions. Key Points. Iron overload is toxic and can facilitate hepatic fibrogenesis. Hepatic fibrogenesis is an unfavourable natural event both of hereditary hemochromatosis and chronic hepatic conditions, since it can cause hepatic cirrhosis and hepatocellular carcinoma. Conclusion. Patients with iron overload should be stratified into at-risk groups for early diagnosis of hepatic fibrosis and optimal management. Keywords: iron overload, hepatic fibrogenesis, hereditary hemochromatosis, chronic hepatic conditions, diagnosis, management.","PeriodicalId":11479,"journal":{"name":"Doctor.Ru","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75500251","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Interaction Between Epstein-Barr Virus and Human Papilloma Virus in Cervical Cancer. Possible Prevention eb病毒与人乳头瘤病毒在宫颈癌中的相互作用可能的预防
Doctor.Ru Pub Date : 2022-01-01 DOI: 10.31550/1727-2378-2022-21-1-59-64
D. Khlanta, G. Guens
{"title":"Interaction Between Epstein-Barr Virus and Human Papilloma Virus in Cervical Cancer. Possible Prevention","authors":"D. Khlanta, G. Guens","doi":"10.31550/1727-2378-2022-21-1-59-64","DOIUrl":"https://doi.org/10.31550/1727-2378-2022-21-1-59-64","url":null,"abstract":"Objective of the Review: To comprehensively analyse the potential role of Epstein-Barr virus (EBV) in development of cervical cancer. Key Points. Human papilloma virus (HPV) is a key causative factor of cervical cancer. However, there are a lot of data collected over the last two decades demonstrating that EBV has a role to play in this process; still, its contribution to development of cervical cancer has been studied poorly. This review describes the real-time published data on EBV and HPV co-infection in the genesis of cervical cancer, and the potential role of EBV in gynaecological cancer progression. Conclusion. EBV has an important role in the genesis and progression of some human malignancies including lymphoid tumours (both В- and Т-cell cancer) and carcinoma (nasopharyngeal and gastric cancer). The available data are indicative of potential cause-effect relations between EBV and cervical cancer pathogenesis. A frequent EBV and HPV co-infection in cervical cancer witnesses possible cancer-causing interaction between the two viruses. Thus, more in-depth studies are needed to find out the mechanisms underlying the EBV and HPV synergism and its clinical effects. Taking into account successful cervical cancer prevention with HPV vaccine and possible future EBV vaccination, the carcinogenesis mechanisms should be studied more thoroughly in order to improve the prevention of oncological diseases. Keywords: oncology, Epstein-Barr virus, human papilloma virus, co-infection, cervical cancer.","PeriodicalId":11479,"journal":{"name":"Doctor.Ru","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79795202","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
10-year Experience of Combined Surgical Treatment of Severe Pelvic Organ Prolapse in Women 联合手术治疗女性严重盆腔器官脱垂10年体会
Doctor.Ru Pub Date : 2022-01-01 DOI: 10.31550/1727-2378-2022-21-5-67-74
N. Zharkin, V. Seikina, S. Prohvatilov, N. Burova
{"title":"10-year Experience of Combined Surgical Treatment of Severe Pelvic Organ Prolapse in Women","authors":"N. Zharkin, V. Seikina, S. Prohvatilov, N. Burova","doi":"10.31550/1727-2378-2022-21-5-67-74","DOIUrl":"https://doi.org/10.31550/1727-2378-2022-21-5-67-74","url":null,"abstract":"Study Objective: to compare the effectiveness of two methods of surgical treatment of severe forms of pelvic organ prolapse (POP) in women — the original method with the combined use of own tissues and a mesh implant and the traditional method with ventricular fixation of the uterus with a nylon thread. Study Design: Prospective cohort comparative study in parallel groups. Materials and Methods. The study was conducted in 2012–2021. The sample included 456 patients with a verified diagnosis of “pelvic organ prolapsed” (N81.2, II and III in classification of Pelvic Organ Prolapsed Quantification), complicated by a different combination of anterior, apical and posterior prolapses. The main group included 116 women operated on according to the original technique with the combined use of their own tissues (vaginal stage) and lateral ventrofixation of the uterus/cervix with a mesh implant was performed retroperitoneal to aponeurosis in the iliac regions. The second group (comparison) included 340 patients who also underwent a two-stage operation (according to the traditional method), but the abdominal stage consisted in ventrofixation of the uterus/cervix to aponeurosis of the anterior abdominal wall in the suprapubic region with a nylon thread. The frequency of relapses during the entire follow-up period and the quality of life were assessed according to the questionnaire “Pelvic Organ Prolapse — Quality of Life” (PT-QL) during the two years after surgery. Study Results. The frequency of relapses after surgery with uterine ventrofixation to aponeurosis in the suprapubic region with a nylon ligature (11/64; 17.2%) was statistically more significant than with the use of a mesh implant according to the original technique (3/116; 2.6%) (p < 0.001). The quality of life after treatment was higher in the main group in the first days after surgery due to a statistically significant smaller number of patients with dysuric symptoms (7/116; 63%) in contrast to the comparison group, where more than half of the operated patients noted urinary retention 76,5% (260/340) (p < 0.001). In the long-term follow-up periods, there were no statistically significant differences in the patients of the compared groups according to the results of the PT-QL survey (p > 0.05). Conclusion. The developed method of surgical treatment of POP with the combined use of own tissues and a mesh implant provided a reduction in the frequency of relapses of the disease and a higher quality of life in the early postoperative period. Keywords: pelvic organ prolapsed, mesh implant, lateral ventrofixation.","PeriodicalId":11479,"journal":{"name":"Doctor.Ru","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78322627","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A Clinical Case of Late Diagnosis of Persistent Postural Perceptive Vertigo 持续性体位性知觉性眩晕晚期诊断1例
Doctor.Ru Pub Date : 2022-01-01 DOI: 10.31550/1727-2378-2022-21-8-25-30
P. V. Alyabyeva, M. Fayzova, N. A. Shnayder, M. M. Petrova
{"title":"A Clinical Case of Late Diagnosis of Persistent Postural Perceptive Vertigo","authors":"P. V. Alyabyeva, M. Fayzova, N. A. Shnayder, M. M. Petrova","doi":"10.31550/1727-2378-2022-21-8-25-30","DOIUrl":"https://doi.org/10.31550/1727-2378-2022-21-8-25-30","url":null,"abstract":"The purpose of the review: to present a clinical case of a patient with late-diagnosed persistent postural perceptual dizziness (PPPD). Key points. Modern criteria, features of diagnosis and methods of treatment of PPPD, medical history and course of diagnostic search are presented. The specialists did not find data for organic pathology of the brain and inner ear and established only a preliminary diagnosis, recommending further examination. The authors focused on the search for anxiety-depressive disorders and a detailed medical history. So, during the survey, a specialized questionnaire was used to identify anxiety associated with dizziness, and a very high level was shown. It was also found out that there was an acute episode of systemic dizziness in the anamnesis. PPPD was diagnosed. The patient was recommended psychotherapy. Appointed to receive selective serotonin reuptake inhibitors, perform vestibular exercises with a gradual increase in vestibular load. Three months later, a positive trend was noted. Conclusion. This clinical case demonstrates the importance of an in-depth analysis of the medical history in patients with dizziness and attention to the neuropsychological profile. Keywords: persistent postural perceptual dizziness, diagnosis, clinical case.","PeriodicalId":11479,"journal":{"name":"Doctor.Ru","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77087882","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Peculiarities of Abdominal Delivery of Preterm Labor in the 3rd Level Hospital in Dushanbe City 杜尚别市三级医院早产腹部分娩的特点
Doctor.Ru Pub Date : 2022-01-01 DOI: 10.31550/1727-2378-2022-21-5-62-66
F.R. Ishan-Khojaeva
{"title":"Peculiarities of Abdominal Delivery of Preterm Labor in the 3rd Level Hospital in Dushanbe City","authors":"F.R. Ishan-Khojaeva","doi":"10.31550/1727-2378-2022-21-5-62-66","DOIUrl":"https://doi.org/10.31550/1727-2378-2022-21-5-62-66","url":null,"abstract":"Study Objective: To assess the impact of caesarean section rate on perinatal outcomes of preterm birth (PB) in a level 3 hospital based on the caesarean section efficiency ratio. Study Design: Retrospective group study. Materials and Мethods. An analysis was made of the PB histories of women delivered by caesarean section in 2021 at the State Institution “Scientific Research Institute of Obstetrics, Gynecology and Perinatology” of the Ministry of Health and Social Protection of the Population of the Republic of Tajikistan, as well as data from annual reports for the city of Dushanbe and for the institution. Study Results. In a level 3 hospital, every third delivery is by caesarean section. It has been shown that the proportion of perinatal mortality (PM) in PD is 5.5 times higher than in urgent delivery: 84.6 vs. 15.4%. In extremely early PD (EEPB) by caesarean section, the proportion of PM was statistically significantly higher than the proportion of neonatal survival: 95 ± 4.9% vs. 5 ± 4.9% (р < 0,001). The efficiency ratio of caesarean section in the 3rd level hospital is low (0.3) due to the high relative contribution of caesarean sections for EEPD and EPB to the total number of cesarean sections and the prevalence of PM over neonatal survival for EEPB and EPB. Conclusion. The search for reserves to reduce the frequency of caesarean section in group 10 on the М. Robson scale should be carried out among patients with EEPB and EPB. Keywords: preterm birth, caesarean section, Robson score, caesarean section efficiency ratio.","PeriodicalId":11479,"journal":{"name":"Doctor.Ru","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87689698","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Endometrium Receptivity in Patients with Repeated Implant Failures 反复植入失败患者的子宫内膜容受性
Doctor.Ru Pub Date : 2022-01-01 DOI: 10.31550/1727-2378-2022-21-1-27-33
V. Radzinsky, L. Mikhaleva, M. Orazov, E. Silantieva, D. Kamilova, K. Midiber, R. E. Orekhov
{"title":"Endometrium Receptivity in Patients with Repeated Implant Failures","authors":"V. Radzinsky, L. Mikhaleva, M. Orazov, E. Silantieva, D. Kamilova, K. Midiber, R. E. Orekhov","doi":"10.31550/1727-2378-2022-21-1-27-33","DOIUrl":"https://doi.org/10.31550/1727-2378-2022-21-1-27-33","url":null,"abstract":"Study Objective: To broaden the understanding of the pathogenesis of impaired receptivity in patients with repeated implant failures (RIF) in in vitro fertilisation programs. Study Design: Open perspective comparative study. Materials and Methods. 57 women aged 27 to 42 years old (mean age: 36 ± 6.2 years old) with clinically verified RIF. A morphological control group included 30 fertile women. The subject of the study was endometrium biopsy material obtained on day 5–7 of menstruation, following the peak blood concentration of luteinizing hormone (implantation window). Study Results. During the implantation window, patients with RIF have statistically significant (р < 0.05) changes: 1.5- and 1.4-fold increase in gland and stromal expression of estrogen α receptors, respectively; 2.3-fold increase in expression of progesterone A and B receptors with simultaneous reduction in stromal expression by 1.6 times; focal reduction in MUC1 expression in apical surface of endometrium; 1.3-fold increase in pinopods density in apical surface of endometrium and 2.3-fold increase in stromal expression of CD56+ NK-cells; 2-fold reduction in CD4+ cell expression, and 2.2-fold increase in CD8+ expression vs morphological controls. During the implantation window, von Willebrand factor and CD34+ levels in endometrial stroma did not demonstrate statistically significant differences when expressed in blood-vessel endothelium. Conclusion. Pathogenesis of impaired receptivity in patients with RIF can be explained with impaired expression of sex hormone receptors in stroma and glandular component and reduced MUC1 expression, increased density and reduced amount of mature and maturating pinopods in apical surface of endometrium. An increased number of expressed CD56+ NK-cells during the implantation window in patients in both groups (in patients with RIF, CD56+ expression is significantly higher) in combination with the found imbalance between Т-lymphocytes can be a cause of the immunological component of impaired implantation pathogenesis. Keywords: repeated implant failures, pinopods, MUC1, CD56+, CD4+, CD8+, von Willebrand factor, CD34+, estrogen α receptors, progesterone A and B receptors.","PeriodicalId":11479,"journal":{"name":"Doctor.Ru","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85327747","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Problems with Autoimmune Epilepsy Diagnostics 自身免疫性癫痫诊断问题
Doctor.Ru Pub Date : 2022-01-01 DOI: 10.31550/1727-2378-2022-21-8-31-38
E. Kantimirova, E. А. Domoratskaya, O. Shilkina, D. Dmitrienko
{"title":"Problems with Autoimmune Epilepsy Diagnostics","authors":"E. Kantimirova, E. А. Domoratskaya, O. Shilkina, D. Dmitrienko","doi":"10.31550/1727-2378-2022-21-8-31-38","DOIUrl":"https://doi.org/10.31550/1727-2378-2022-21-8-31-38","url":null,"abstract":"Objective of the Review: To analyse and systematise knowledge in the problems with autoimmune epilepsy diagnostics. Main part. Clinical phenotypes of immune-mediated epilepsy depend on various types of antibodies. However, autoimmune epilepsy is diagnosed also in patients who are followed up for chronic refractory unexplained epilepsy, especially in initial epileptic status and late onset epilepsy without structural changes on brain imaging. Brain imaging changes may not be observed, especially in early disease. Very often a diagnostic challenge in autoimmune epilepsy is the difference between epileptic seizures and behavioural symptoms and the mental changes caused by involvement of limbic brain structures. An important role in detection of seizures and differential diagnosis is played by video-EEG-monitoring, which allows identifying the true number of seizures, epileptiform activity between seizures, behavioural changes not related to paroxysmal activity of cortical neurons. Any specific EEG signs for differentiation between various types of autoimmune epilepsy have not been found yet. Still, EEG can provide patterns that are unique for certain forms of autoimmune encephalitis. Conclusion. Video-EEG-monitoring significantly contributes to autoimmune epilepsy diagnostics, and some changes can be used as markers of disease severity. It is very important, especially in patients with impairment of consciousness, where identification of the clinical status and response to therapy is challenging. Keywords: autoimmune epilepsy, video-EEG-monitoring, epilepsy diagnostics","PeriodicalId":11479,"journal":{"name":"Doctor.Ru","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83091878","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Current International Guidelines for the Management of Patients with Gastroesophageal Reflux Disease: Diagnosis and Management of Typical Syndromes 当前国际胃食管反流病患者管理指南:典型综合征的诊断和管理
Doctor.Ru Pub Date : 2022-01-01 DOI: 10.31550/1727-2378-2022-21-6-29-34
V. Tsukanov, A. Vasyutin, Yu. L. Tonkikh
{"title":"Current International Guidelines for the Management of Patients with Gastroesophageal Reflux Disease: Diagnosis and Management of Typical Syndromes","authors":"V. Tsukanov, A. Vasyutin, Yu. L. Tonkikh","doi":"10.31550/1727-2378-2022-21-6-29-34","DOIUrl":"https://doi.org/10.31550/1727-2378-2022-21-6-29-34","url":null,"abstract":"Objective of the Review: Analysis of the 2022 American College of Gastroenterology clinical guidelines for the diagnosis and treatment of gastroesophageal reflux disease (GERD). Key points. Empiric proton pump inhibitors (PPIs), symptom analysis, esophagogastroduodenoscopy, pH-impedancemetry, and highresolution manometry are important in the diagnosis of GERD. The main therapies for typical GERD syndromes are dietary modification, weight loss, and PPIs. In patients with non-erosive reflux disease, once a response to treatment has been achieved, PPIs may be discontinued or switched to on-demand PPI therapy. In patients with stage C and D esophagitis, long-term maintenance treatment with a PPI is appropriate. Conclusion. The recommendations of the American College of Gastroenterology contain a number of important provisions that will be useful to practitioners. However, the clinical and epidemiological situation in Russia is very different from that in Western countries, and this must be taken into account when determining the tactics of managing patients with GERD. Keywords: gastroesophageal reflux disease, erosive esophagitis, diagnosis, treatment.","PeriodicalId":11479,"journal":{"name":"Doctor.Ru","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89230995","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Analysis of Concordance of Pre-implantation Aneuploidy Genetic Testing Results Obtained Using Next Generation Sequencing on Illumina Platform in Cells of Various Parts of Trophoblast 利用Illumina平台下一代测序获得滋养细胞不同部位细胞着床前非整倍体基因检测结果的一致性分析
Doctor.Ru Pub Date : 2022-01-01 DOI: 10.31550/1727-2378-2022-21-5-18-24
Z. Glinkina, A. F. Sayfitdinova, O. Pavlova, O. Leontyeva, A. N. Panina, N. Bichevaya, I.V. Boroznyak
{"title":"Analysis of Concordance of Pre-implantation Aneuploidy Genetic Testing Results Obtained Using Next Generation Sequencing on Illumina Platform in Cells of Various Parts of Trophoblast","authors":"Z. Glinkina, A. F. Sayfitdinova, O. Pavlova, O. Leontyeva, A. N. Panina, N. Bichevaya, I.V. Boroznyak","doi":"10.31550/1727-2378-2022-21-5-18-24","DOIUrl":"https://doi.org/10.31550/1727-2378-2022-21-5-18-24","url":null,"abstract":"Study Objective: To study trophoblast (TB) cells taken from various sections of the embryo using Next Generation Sequencing (NGS) on Illumina platform, and to compare data in order to identify the degree of discordance between various samples from one embryo. Study Design: Comparative study. Materials and Methods. For the study, we used human embryos at early development stages, which originated from artificial insemination of germ cells taken from healthy donors with normal karyotype within the scope of the in vitro fertilisation program. We selected 14 human embryos originating from insemination of oocytes of 10 donors aged 20 to 32 years old with sperm taken from 9 donors from the semen bank of the International Centre for Reproductive Medicine. Two embryos underwent degradation during defrosting. For 12 embryos, we performed a repeated TB cells biopsy from two independent sections: one biopsy from TB adjacent to inner cell mass (ICM) cells and the other TB biopsy from blastocyte pole opposite to the embryoblast. Study Results. A comparison of molecular karyotype of TB cells taken from various sections of blastocyte in 12 embryos, 36 samples (3 sample for each embryo), demonstrated partial discordance only in one observation. In initial study, molecular karyotype of an embryo showed trisomy 16 syndrome: Seq(16)x3,(XY)x1. In the follow-up study, we found an additional deletion in the form of mosaicism in chromosome 7 section adjacent to ICM of the embryo: Seq(16)x3,(7q21.3 -> 7q36.3)x[0.5]). All other results demonstrated complete concordance irrespective of a TB section in question or a laboratory where sequencing was performed. Conclusion. It may be concluded that pre-implantation aneuploidy genetic testing of 5-day-old embryos using Next Generation Sequencing on Illumina platform allows obtaining reliable information on chromosomal abnormalities and can be successfully used to identify aneuploidy in pre-implantation embryos. Keywords: pre-implantation aneuploidy genetic testing, Next Generation Sequencing, in vitro fertilisation, aneuploidy, embryo mosaicism, chromosomal pathology.","PeriodicalId":11479,"journal":{"name":"Doctor.Ru","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81699136","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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