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  Most popular articles (Since February 07, 2017)

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Single-cell RNA expression profiling of ACE2 and AXL in the human maternal–Fetal interface
Qing-Liang Zheng, Tao Duan, Li-Ping Jin
January-March 2020, 4(1):7-10
2019 novel coronavirus disease has resulted in thousands of critically ill patients in China, which is a serious threat to people's life and health. Severe acute respiratory syndrome-coronavirus 2 (SARS-CoV-2) was reported to share the same receptor, angiotensin-converting enzyme 2 (ACE2), with SARS-CoV. Here, based on the public single-cell RNA-sequencing database, we analyzed the mRNA expression profile of putative receptor ACE2 and AXL receptor tyrosine kinase (AXL) in the early maternal–fetal interface. The result indicates that the ACE2 has very low expression in the different cell types of early maternal–fetal interface, except slightly high in decidual perivascular cells cluster 1 (PV1). Interestingly, we found that the Zika virus (ZIKV) receptor AXL expression is concentrated in perivascular cells and stromal cells, indicating that there are relatively more AXL-expressing cells in the early maternal–fetal interface. This study provides a possible infection route and mechanism for the SARS-CoV-2- or ZIKV-infected mother-to-fetus transmission disease, which could be informative for future therapeutic strategy development.
  9,348 633 37
Advances in the treatment of recurrent implantation failure
Feng Guo, Ming-Juan Zhou, Ai-Jun Zhang
April-June 2017, 1(2):123-126
Recurrent implantation failure (RIF) is a syndrome of complex etiology. Excluding the involvement of embryonic factors, RIF is characterized by women aged ≤40 years who fail to achieve clinical pregnancy after at least four high-quality embryos transfer in a minimum of three fresh or frozen cycles. However, current methods in the treatment of RIF are controversial. So far, there are no reports of any criteria or guidelines, and the mechanism of RIF is still not clear. Herein, we summarize the pathogenesis of RIF and highlight recent methods in its treatment, to provide reference for the basic and clinical research on RIF.
  7,706 851 1
Induction of ovulation with clomiphene citrate combined with bromocriptine in polycystic ovary syndrome patients with infertility: A prospective, randomized, and controlled clinical trial
Hai-Yun Guan, Wei Zhang, Bing-Qing Huang
October-December 2017, 1(4):216-220
Background: To investigate the therapeutic effects of bromocriptine (BCT) combined with clomiphene citrate (CC) in the induction of ovulation in polycystic ovary syndrome (PCOS) patients with infertility. Methods: A prospective, randomized, and controlled clinical trial was performed on 100 PCOS patients with infertility. Patients were randomly divided into two groups (n = 50), patients in control group were treated with 50 mg CC from day 3 to day 7 of the menstrual cycle, and those in observation group (CC + BCT) were given 50 mg of CC from day 3 to day 7 of the menstrual cycle along with 2.5 mg of BCT daily for the full cycle. Patients in both groups were treated for one cycle. Blood was extracted from patients on day 3 of the menstrual cycle, the day of human chorionic gonadotrophin (hCG) injection, and day 7 after hCG injection to measure serum levels of follicle-stimulating hormone (FSH), luteinizing hormone (LH), prolactin (PRL), estradiol (E2), total testosterone (T) and progestin (P). Vaginal ultrasound was used to determine the thickness of endometrium and follicle size and count. Results: There was no significant difference in basal hormone levels between two groups. The success rate of ovulation induction in control group and observation group was 72.0% and 75.4%, respectively, no significant difference was found between two groups (P > 0.05). The ongoing pregnancy rate (18.4%) in observation group was significantly higher than that in control group (8.0%). On the day of hCG injection, no significant differences in the levels of FSH, E2, and P were found between two groups, while LH was lower, and levels of PRL and T were significantly lower in observation group than those in control group (all P = 0.00). On day 7 after hCG injection, no significant differences in the levels of E2 and P were found between two groups, while PRL level was significantly lower in observation group than that in control group, and the endometrial thickness in observation group (10.20 ± 1.92 mm) was significantly higher than that in control group (9.22 ± 1.88 mm) (P = 0.01). Conclusions: Compared with the use of CC alone, BCT combined with CC can increase the success rate of ovulation induction-assisted pregnancy in PCOS patients, decrease the levels of PRL, LH, and T and increase the endometrial thickness in implantation window. Those data suggest that dopamine agonist BCT may reduce the pituitary hormone and androgen levels, reduce endometrial vascular resistance, and increase endometrial blood supply to improve the infertility outcomes of PCOS patients with infertility.
  6,564 335 -
Safety of mifepristone in medical abortion in hyperthyroidism pregnant mice
Yun-Hui Tang, Xiao-Ying Yao
January-March 2019, 3(1):30-35
Objective: To study the safety of mifepristone on thyroid hormone level by using hyperthyroidism pregnant model in mouse to simulate the process of medical abortion and observe the changes of thyroid hormone during abortion. Methods: A total of 60 female Institute of Cancer Research (ICR) mice aged 6–8 weeks were divided into control group, control group with 0 mgRU486 group (control-0 mgRU486), control group with 2 mgRU486 group (control-2 mgRU486), hyperthyroid pregnant mice with 0 mgRU486 group (hyper-0 mgRU486), hyperthyroid pregnant mice with 2 mgRU486 group (hyper-2 mgRU486), and hyperthyroid pregnant mice with 20 mgRU486 group (hyper-20 mgRU486). In the hyperthyroidism groups, L-thyroxine sodium was intraperitoneally injected every day at 30 μg·kg−1·day−1 until the end of the experiment. On the 7th day of the experiment, free triiodothyronine (FT3), free tetraiodothyroxine (FT4), thyroxine (TT4), and thyroid-stimulating hormone (TSH) levels were tested. The mice in the control groups and those in the experimental groups were paired with the male mice (2:1) on the 10th day of the experiment, and the caging was recorded. On the 8th day of pregnancy (day 8), pregnant mice were subcutaneously injected with mifepristone in different doses and were sacrificed 6 h later. Pregnancy rate and the number of embryos were recorded. Thyroid tissues were observed by hematoxylin and eosin (HE) staining. Serum TSH level was determined by radioimmunoassay. Results: Six hours after injection with mifepristone, serum FT3, FT4, and TT4 levels of pregnant mice were all increased. The increased levels in the mice under hyperthyroidism were different from those in the control groups (P < 0.05). There was no difference in the embryo number and pregnancy rate between the experimental and the control groups; HE staining indicated that there was no significant change in microscopic features before and after mifepristone administration. Conclusion: Serum thyroid hormone level of mice under hyperthyroidism was significantly increased after mifepristone administration. Therefore, mifepristone should be avoided when hyperthyroidism has not been controlled.
  5,254 172 -
Mitochondrial Dysfunction and Age - related Oocyte Quality
Han Li, Ri-Cheng Chian
January-March 2017, 1(1):45-54
Fertility disorders have become a growing problem worldwide. It is well known that female fertility decreases with age, previous studies suggested that the age-related decline in female fertility potential was largely due to decrease in oocyte quality and mitochondrial dysfunction. Mitochondria play a crucial role during the process of oocyte maturation. Mitochondrial genetic, numerical and structural defects occur in oocyte aging process, mitochondrial abnormalities are believed to contribute to age-related infertility. Improvement of the mitochondrial function can lead to better fertility outcomes, and application of mitochondria replacement strategy or mitochondrial transfer to age-related infertility will be possible in the future. This review paper, we are trying to discuss current understanding about age-related changes in oocyte quality and mitochondrial dysfunction.
  3,404 531 2
Estrogen Biosynthesis and Its Regulation in Endometriosis
Qiu-Ming Qi, Sun-Wei Guo, Xi-Shi Liu
January-March 2017, 1(1):55-61
Endometriosis is a common benign gynecological disorder with an enigmatic etiology and pathogenesis. It affects approximately 10% women of reproductive age. Although its etiology and pathogenesis remain poorly understood, it is characterized by the elevated local production of estrogen in the endometriotic tissues. In this paper, we review the mechanisms of estrogen biosynthesis and its regulation in endometriosis.
  3,541 371 5
Environmentally induced paternal epigenetic inheritance and its effects on offspring health
Zheng-Hui Zhao, Heide Schatten, Qing-Yuan Sun
April-June 2017, 1(2):89-99
Increasing evidences indicate that chronic diseases in offspring may be the result of ancestral environmental exposures. Exposures to environmental compounds in windows of epigenetic susceptibility have been shown to promote epigenetic alterations that can be inherited between generations. DNA methylation, histone modifications, and noncoding RNAs are sound mechanistic candidates for the delivery of environmental information from gametes to zygotes. This review focuses mainly on paternal exposures and assesses the risk of epigenetic alterations in the development of diseases, providing insights into relationships between aberrant sperm epigenetic patterns and offspring health. Elucidation of the mechanisms underlying environmental epigenetic information that survive from epigenetic reprogramming and its transmission to future generations may hold a great promise for providing therapeutic targets for epigenetic diseases associated with environmental exposures.
  3,455 411 -
Developmental aspect of decidual patterning
Chan Zhou, Hai-Li Bao, Shuang-Bo Kong, Jin-Hua Lu, Hai-Bin Wang
April-June 2017, 1(2):100-114
In clinical practice, early pregnancy loss has afflicted approximately 15%–25% women of reproductive age worldwide, which is partially attributed to defects associated with the endometrium. During pregnancy, the endometrial stromal cells experience remarkable tissue remodeling and transformation, termed as decidualization, to support embryonic development, placental formation, and the maintenance of normal pregnancy in both mice and human. During this process, a series of dynamic developmental events, including rapid stromal proliferation, increased stromal cell size, enhanced angiogenesis, taken place in a highly-ordered manner under the precise regulation of steroid hormones. Meanwhile, diverse molecules exhibit spatiotemporal-specific expression pattern, implying their unique roles in decidual development. To achieve a more comprehensive understanding of these biological events and explore the underlying causes of early pregnancy disorders, this review emphasizes on the detailed developmental progression of decidual transformation and patterning as well as related pregnancy complications at the early stage of pregnancy.
  3,510 348 2
Effects of Dehydroepiandrosterone on Embryo Quality and Follicular Fluid Markers in Patients with Diminished Ovarian Reserves
Jing Fu, Hua-Feng Jiang, Lu Li, Ai-Jie Xin, Yi-Juan Sun, Xiao-Xi Sun
January-March 2017, 1(1):1-8
Background: To examine the effects of dehydroepiandrosterone (DHEA) on in vitro fertilization (IVF) intracytoplasmic sperm injection (ICSI) and the levels of follicular fluid (FF) markers, namely, anti-Müllerian hormone (AMH), insulin-like growth factor (IGF)-1, bone morphogenetic protein (BMP)-15, and growth differentiation factor (GDF)-9, in patients with diminished ovarian reserves (DORs). Methods: 116 patients with DOR were randomized into two groups, DHEA group and control group. Each group contained 58 patients. The DHEA group received 75 mg/d of DHEA for 12 weeks prior to the start of IVF treatment, while the control group entered IVF treatment directly. All patients were treated with the same ovarian stimulation protocol. The primary outcome was high-quality embryo yield. Other IVF parameters, such as the clinical pregnancy rate, embryo survival rate, and intact blastomere rate, were compared between the two groups. FF samples from patients of both groups were collected to measure the levels of AMH, IGF-1, DHEA-sulfate, BMP-15, and GDF-9. Blood was also collected on day 3 of the menstrual cycle to define the baseline hormonal profile and to examine ovarian reserve markers. Results: The high-quality embryo yield was higher in DHEA group than that in control group (P = 0.033). AMH and IGF-1 concentrations in FF were significantly higher in DHEA group than that in the control group (2.83 ± 1.14 ng/L vs. 1.37 ± 0.55 ng/L, P = 0.000; 94.02 ± 38.28 ng/L vs. 74.03 ± 25.46 ng/L, P = 0.004, respectively). The BMP-15 level was also higher in DHEA group (relative expression were 1.80 ± 0.41) than that in control group (relative expression were 0.79 ± 0.16, P < 0.0001); however, there was no difference in GDF-9 expression between the two groups (relative expression were 1.29 ± 0.54 and 1.16 ± 0.50 respectively, P > 0.05) and in the clinical pregnancy rate between the two groups (13.79% vs. 7.27%, respectively, P > 0.05). Conclusions: In women with DOR undergoing IVF treatment, pretreatment with DHEA may increase the number of high-quality embryos, which may be due to increased levels of AMH, IGF-1, and BMP-15 in the FF. Trial Registration: NCT02866253.
  3,236 433 2
Clinical Outcomes of Transfer Vitrified-Thawed Day 4, 8-Cell Embryos into Endometrium Prepared for Day 3 Embryos
Ji-Qiang Si, Hannah Ya-Ning Chang, Yan-Ping Kuang, Qi-Feng Lyu
April-June 2018, 2(2):95-99
Objective: To determine the clinical outcomes of transfer of day 3, 8-cell embryos into endometrium prepared for day 3 embryos. Methods: This study performed a retrospective analysis of 1,190 retarded embryos. These embryos underwent extended culture in vitro to select and vitrify day 4, 8-cell embryos, followed by 176 frozen embryo transfer cycles (study group), matching 660 transfer cycles with single frozen day 3, 8-cell embryos as the control (control group). Results: The study group achieved successful implantation rates, clinical pregnancy rate, and live-birth rates (20.45%, 15.91%, 14.20%, respectively), although these were lower than that in the control group (30.45%, 27.42%, and 20.91%; P = 0.009, 0.002, and 0.046, respectively). The miscarriage rate was similar to that in the control group (4.55% vs. 3.33%, P > 0.05), and the mean birth weight of the study group was higher than that in the control group (3,556 ± 381 g vs. 3,311 ± 570 g, P = 0.012). Conclusions: Transfer of frozen day 4, 8-cell embryos into endometrial prepared for day 3 embryos can be a new and safe alternative for patients with delayed embryos.
  3,412 256 -
Epigenetic Modification in Oocyte and Preimplantation Embryonic Development
Yi-Xin Ren, William Chang, Jie Qiao
January-March 2017, 1(1):13-17
DNA methylation and histone modification are two of the most characterized epigenetic modifications. With advanced detecting techniques, particularly single-cell sequencing, we can dissect epigenomic patterns and their regulatory roles in the growth and differentiation of gametes and early embryos in animals and humans. Assisted reproductive technology (ART) procedures have been shown to influence the methylation of certain genes. Aberrant epigenetic regulation may cause several developmental disorders and clinical diseases. Here, we describe some concepts in epigenetics and review recent researches on DNA methylation and the histone modification profile and their regulatory roles during early embryo development. We also summarize the recent progress in understanding the imprinting disorders associated with ART procedures.
  3,097 470 2
Dysbiosis of gut microbiota contributes to chronic stress in endometriosis patients via activating inflammatory pathway
Jing Xu, Ke Li, Lin Zhang, Qi-Yu Liu, Yun-Ke Huang, Yu Kang, Cong-Jian Xu
October-December 2017, 1(4):221-227
Background: Gut microbiota can interact with the central nervous system through the gut–brain axis, thus affecting the host's chronic stress level, such as anxiety and depression. Current researches show that patients with endometriosis often have a high level of chronic stress, which will in turn aggravate endometriosis by activating the β-adrenergic signaling pathway. Therefore, we wondered whether the gut microbiota associates with the chronic stress level in endometriosis patients, which may provide new insights on how to improve treatment. Methods: We grouped the endometriosis patients into the chronic stress group and the control group with questionnaires such as generalized anxiety disorder-7 and patient health questionnaire-9 and collected patients' fecal specimens and tissue specimens. Gut microbiota compositions were analyzed by the 16SrRNA gene sequencing-based method, and immunohistochemistry was performed to detect the activation of inflammatory pathways in endometriosis tissues. Results: We found that in patients with endometriosis, the dysbiosis of gut microbiota was associated with their stress levels. Furthermore, the levels of Paraprevotella, Odoribacter, Veillonella, and Ruminococcus were significantly reduced in chronic stressed endometriosis patients, suggestive of a disease-specific change of gut microbiota at the genus level. Compared to the healthy women, the expression levels of inflammatory cytokines, nuclear factor-κB p65, and cyclooxygenase-2 increased in the chronic stressed endometriosis patients, indicating that the dysbiosis of gut microbiota may activate the inflammatory pathway of gut–brain axis. Conclusions: We hypothesized that these new disease-specific changes of gut microbiota in chronic stressed patients with endometriosis may be a new examination target of chronic stress level. These changes may also provide new insights for psychological intervention, thus reducing the stress level and improving the prognosis of endometriosis patients.
  3,149 401 -
The influence of sperm DNA damage and semen homocysteine on male infertility
Kang-Sheng Liu, Feng Pan, Ya-Jun Chen, Xiao-Dong Mao
October-December 2017, 1(4):228-232
Background: To explore the relationship of sperm DNA fragmentation index (DFI) , serum and seminal plasma homocysteine (Hcy), and semen parameters in patients with severe spermatogenetic dysfunction. Methods: A total of 77 infertile males treated in our hospital for severe spermatogenetic dysfunction from January 2016 to November 2017 were recruited. The involved patients were divided into two groups: oligozoospermia (SOM group, 35 cases) and asthenozoospermia (OAT group, 42 cases). The control group (NM group) contained 31 healthy males without reproductive dysfunctions. All the participants involved were tested in the items below: spermatozoa parameters, spermatozoa DFI, serum Hcy level and seminal plasma Hcy level, concentration of seminal plasma malondialdehyde (MDA), and total antioxidant capacity (TAC). Results: Between the SOM group and NM group, there were significantly difference in sperm concentration, motility and vitality, concentration of MDA, and TAC. The spermatozoa DFI and Hcy levels in SOM group were significantly higher than those of the NM group. Sperm DFI was positively correlated with serum Hcy level (r = 0.083, P < 0.05). Serum Hcy level was negatively correlated with sperm concentration (r = −0.186, P < 0.05) and sperm vitality (r = −0.216, P < 0.05). The serum Hcy level was not correlated with sperm Hcy level (r = 0.103, P > 0.05). Conclusions: The elevated Hcy level and spermatozoa DFI may be important factors of the severe spermatogenetic dysfunction, which can be used as semen index to evaluate sperm quality and male fertility.
  3,076 412 -
Fertility and sexual function after loop electrosurgical excision procedure in patients with high-grade squamous intraepithelial lesion
Meng Yu, Jing-Xin Ding, Ke-Qin Hua
July-September 2019, 3(3):148-152
Objective: Loop electrosurgical excision procedure (LEEP) is the first choice for patients with high-grade squamous intraepithelial lesion (HSIL). This study aimed to investigate postoperative fertility and sexual function in patients with HSIL after LEEP. Methods: This cohort study included patients with HSIL enrolled at 11 obstetrics and gynecology hospitals between January 1, 2013, and December 31, 2015. The patients were treated with LEEP only. Ultimately, 760 patients meet our inclusion and exclusion criteria. Our research included two parts: The effect of LEEP on postoperative fertility and the effect of LEEP on postoperative sexual function. In the two different parts of the research, we chose different case series according to their follow up information. Results: In the LEEP group, 125 patients had successful deliveries and 27 were preterm (21.6%). The risk of preterm birth was significantly higher in the case group (relative risk [RR]: 2.634; 95% confidence interval [CI]: 1.689–4.108). As the cone depth and volume increased, the risk of preterm increased. In this study, the raw relative risk of cesarean section (CS) was increased in the LEEP group, however the constituent ratio of the indications in the LEEP group was not significantly different from that of the control group. With increased cone depth and volume, pain during postoperative sexual intercourse gradually increased. Conclusions: LEEP increases the risk of preterm birth. The risk increases as the cone depth and volume increases. LEEP could lead to pain during sexual intercourse.
  2,985 412 -
Guideline for Diagnosis and Treatment of Infertility in Advanced Age Women (Revised Edition)
Chinese Medical Doctor Association Reproductive Medicine Specialized Committee
July-September 2017, 1(3):145-160
As more and more couples postpone their childbearing plan, and Chinese two-child policy is fully liberalized, the proportion of advanced-age parents gradually increases. However, ovarian function gradually descends with age, and the incidences of uterine fibroids, scarred uterus, and pelvic inflammation disease significantly increase, which increases the risk of infertility. Even though the advanced-age women successfully get pregnant through assisted reproductive technology (ART), the risks of pregnancy complications and medical and surgical complications (such as miscarriage, gestational diabetes, gestational hypertension, intrauterine fetal death, low birth weight of newborn, or premature birth) will increase with age. Currently, the consistency of diagnosis and treatment strategies on elderly patients with infertility is still lacking, and the efficacy of the diagnosis and treatment is even worse. In light of the above situations, the specialized committee organized experts of reproductive endocrinology and ART to compose this guideline, aiming for standardizing the process of diagnosis and treatment on advanced-age infertile women. This guideline interprets reproductive status and related fertility evaluation on advanced-age infertile women, and discusses prepregnancy preparation of body and nutrition and consultation, as well as related risk assessment of pregnancy. It also analyzes the current clinical and laboratory hot issues: the genetic characteristics of advanced-age women, evaluation, counseling, and corresponding laboratory screening, diagnostic methods, and operational norms. In addition, for the advanced-age women with high incidence of medical and surgical complications, this guideline gives us norms of diagnosis and treatment on different complications. Finally, strategies of ART are made for the advanced-age infertile women, which can provide basis and guidance for their diagnosis and treatment.
  3,148 220 -
Effect of weight loss on In Vitro fertilization treatment outcome
Jing-Yan Song, Shan Xiang, Zhen-Gao Sun
October-December 2017, 1(4):210-215
Background: To assess the effect of weight loss in overweight and/or obese women on the in vitro fertilization (IVF) treatment outcome before IVF cycles by a systematic review and meta-analysis of clinical trials. Methods: Systematic review and meta-analysis of randomized controlled trials (RCTs) and cohort studies were conducted. Systematic literature searches were conducted, and all randomized trials that evaluated the impact of weight loss in IVF treatment cycles were included in the study. Study selection, quality estimation, and data extractions were performed independently and in duplicate. Results: A total of 924 patients were enrolled in seven studies; the effects of weight loss on the IVF treatment outcome before the IVF treatment cycle were assessed. The clinical pregnancy rate (risk ratio [RR]: 1.61, 95% confidence interval [CI]: 1.15–2.27), miscarriage rate (RR: 0.56, 95% CI: 0.34–0.93), and live birth rate (RR: 1.86, 95% CI: 1.41–2.45) had a statistically significant difference between the intervention and control group. No significant differences were observed in the number of oocytes retrieved (weighted mean difference [WMD]: 0.84, 95% CI: −0.12–1.79), gonadotropin consumption (WMD: 2.59, 95% CI: −6.61–1.42), or the duration of stimulation (WMD: −0.46, 95% CI: −1.64–0.71). Conclusions: Before IVF treatment, obese and overweight women should lose weight by physical activity and/or dietary management because weight loss can improve pregnancy rate, reduce miscarriage rate, and meliorate live birth rate. At the same time, further prospective RCTs are required to establish which methods of weight loss are most suited to this purpose, as well as determining whether cut points for body mass index need to be recommended before accessing IVF.
  2,947 280 -
Cytogenetic analysis for fetal chromosomal abnormalities by amniocentesis: Review of over 40,000 consecutive cases in a single center
Shuo Zhang, Ming Yin, Jian-Zhong Xu, Cai-Xia Lei, Jun-Ping Wu, Xiao-Xi Sun, Yue-Ping Zhang
April-June 2017, 1(2):84-88
Background: The aim of this study was to retrospectively investigate the 18-year experience of prenatal diagnosis of fetal karyotype analysis by amniocentesis. Methods: In this study, the authors reviewed the cytogenetic results of 40,208 fetuses with indications for amniocentesis enrolled from December 1998 to December 2015. Cytogenetic analysis of amniotic fluid was performed in all these pregnancies. Eight indications for amniocentesis were included. The detection rate and distribution of abnormal karyotypes were observed in each indication. Results: Among all these samples, abnormal maternal serum screening test was the most common indication for amniocentesis (17,536, 43.67%), followed by advanced maternal age (11,734, 29.18%), abnormal ultrasound findings (5,328, 13.25%), and required by pregnant women (2,557, 6.36%). Chromosomal abnormality was detected in 1,349 (3.36%) samples, 63.01% of the abnormalities were numerical, and 36.99% were structural. The detection rates of abnormal karyotype were 55.60% in one of the couple with chromosomal abnormality, 4.43% in the pregnant women with pathological ultrasound finding, 2.83% in the pregnant women with advanced age, and 2.73% in women with abnormal maternal serum screening tests. Of the fetuses with chromosome aberrations, 680 (50.41%) had trisomy 13, trisomy 18, or trisomy 21, and 138 (10.23%) had sex chromosome disorder. The other 531 abnormal samples included translocation, mosaicism, inversion, deletion, addition, and marker chromosome. Conclusions: Cytogenetic analysis, therefore, remained an effective approach to decrease the birth defects of fetuses with indications for amniocentesis. These results could provide meaningful suggestions for clinical genetic consulting and prenatal diagnosis.
  2,762 305 1
Outcome of Couples with Reciprocal Translocation Carrier Undergoing the First Preimplantation Genetic Testing Cycles
Cai-Xia Lei, Shuo Zhang, Hai-Yan Sun, Sai-Juan Zhu, Jing Zhou, Jing Fu, Yi-Juan Sun, Jun-Ping Wu, Yue-Ping Zhang, Xiao-Xi Sun
January-March 2018, 2(1):30-37
Background: Reciprocal translocation (RCP) causes male infertility and female recurrent pregnancy loss. Male and female carriers have different responses to meiotic disturbances. Gender difference in outcomes of the RCP couples undergoing preimplantation genetic testing (PGT) is unknown. Methods: We conducted a retrospective analysis of 238 RCP couples (124 female and 114 male carriers) divided by gender of carrier from March 2014 to March 2017. Blastocysts were divided by day 5 and day 6. Females were divided into older (≥38 years) and younger (<38 years). Logistic regression was fitted for the relationship between gender of carriers and euploidy. Euploidy rate of each group, pregnancy rate, and live birth rate between different genders were analyzed. Results: The sperm live rate, forward motile sperm rate, and normal morphology rate of serum in male RCP group were significantly decreased. The euploidy rate was 30.30% in female group and 34.90% in male group (P = 0.131); 34.50% in day 5 group and 27.50% in day 6 group (P = 0.039); 33.40% in age <38 years group and 22.40% in age ≥38 years group (P = 0.063). Day 5 (odds ratio [OR] = 1.388, 95% confidence interval [CI] = 1.012–1.904; P = 0.042) and younger age (OR = 1.753, 95% CI = 0.97–3.17; P = 0.063) were associated with euploidy. The clinical pregnancy rate (37.90% vs. 41.20%), ongoing pregnancy rate (33.10% vs. 37.70%), and live birth rate (25.80% vs. 31.60%) per initiated were not significantly different in two gender groups. Conclusions: Although gender influence is not significant, couples with male carrier showed better clinical outcomes. The embryo growing rate and female age are important predictions estimating euploidy in RCP couples.
  2,808 257 -
Role of Related Regulatory Long Noncoding RNAs on Mammalian Spermatogenesis
Kang-Sheng Liu, Xiao-Dong Mao, Feng Pan, Ling-Juan Gao, Xiu-Feng Ling
January-March 2017, 1(1):18-22
Long noncoding RNAs (lncRNAs) are transcribed by RNA molecules, which are longer than 200 nucleotides that lack an open reading frame of significant length and possess no obvious protein-coding capacity. Studies have shown that lncRNAs participate in many physiological processes such as gene imprinting and X chromosome inactivation. They regulate gene expression mainly through DNA methylation, histone modification, and chromatin remodeling. LncRNAs can also affect the development of diseases, and they can be useful to diagnose and treat diseases. With the development of new sequencing and microarray techniques, hundreds of lncRNAs involved in spermatogenesis have been identified, but their functions in the testis are undefined. Herein, we will discuss the biology and regulation of lncRNAs, as well as the bioinformatics tools and searchable databases used to study them in the testis. We hope that this information will provide new insights in treating male reproductive diseases.
  2,675 355 -
Recent progress in identifying genetic and epigenetic contributions to epilepsy
Zi-Ying Hu, Hong-Yan Wang, Yi Wang
October-December 2017, 1(4):239-249
Epilepsy is a serious disorder of the central nervous system characterized by recurrent seizures. There are many known causes of epilepsy, including genetic factors, brain damage, and environmental factors, but the pathogenic mechanisms are largely unknown. Numerous factors, including genetic mutations, brain damage, and environmental insults, have been implicated in the etiology of epilepsy, but the cause for individual epilepsy patients is often unknown. Research on inherited forms of epilepsy has identified mutations in genes encoding ion channels or neurotransmitter receptors. Family-based studies of inherited forms of epilepsy have previously identified mutations in genes encoding ion channels and neurotransmitter receptors. With a deepening understanding of the underlying cellular pathways, researchers have identified epilepsy candidate genes that function in synaptic vesicle trafficking, chromatin remodeling, transcription, and mammalian target of rapamycin (mTOR) signaling. More recently, genes involved in synaptic vesicle transport, chromatin remodeling, and transcription, as well as the mTOR signaling pathway, have also been implicated in inherited forms of the disorder. In addition, recent advances in DNA sequencing and genomic technologies have identified chromosomal copy number variants and epigenetic modifications as possible contributing factors in inherited epilepsy. In this review, we focus on the established and potential contributions of genes, chromosomal abnormalities, and epigenetic modifications to the development of epilepsy.
  2,708 259 1
Immune Regulation at Maternal-fetal Interface in Early Pregnancy
Wen-Jie Zhou, Ming-Qing Li, Da-Jin Li
January-March 2017, 1(1):36-44
Decidual immune cells (DICs), including T-cells, regulatory T-cells, macrophages/dendritic cells, natural killer cells, and neutrophils, are resident at the maternal–fetal interface, and play vital roles in regulating trophoblast migration, decidual angiogenesis, immune tolerance, placentation, and decidualization during the early pregnancy. Extensive researches have revealed that these maternal DICs cooperated with each other, or with maternal decidual stromal cells, or with fetal-derived trophoblasts, and further formed a special maternal-fetal cross talk at the maternal-fetal interface, which was essential for the construction and maintenance of physiological pregnancy. Once aberrant cross talk and immune regulation arise, many pregnancy complications will inevitably occur, such as spontaneous abortion, intrauterine growth restriction(IUGR), preeclampsia (PE), and preterm birth. Here, we reviewed how critical immune cells are either enriched or excluded from the decidua, how their function is regulated within the decidua, and how they variously contribute to pregnancy success or failure.
  2,530 371 -
Galectin-9 Promotes Human Trophoblast Cell Invasion through Matrix Metalloproteinase-2 and p38 Signaling Pathway
Feng-Run Sun, Chun-Qing Chen, Min Yu, Song-Cun Wang, Da-Jin Li, Mei-Rong Du
January-March 2018, 2(1):1-7
Objective: Adequate extravillous trophoblast (EVT) invasion plays a crucial role in the establishment of successful pregnancy. Insufficient trophoblast migration and invasion can result in defective placentation, which is associated with a number of clinical pathological conditions of pregnancy including spontaneous abortion and preeclampsia. Galectin-9 (Gal-9) has a wide variety of regulatory functions in innate and adaptive immunity during infection, tumor growth, and organ transplantation. Methods: We utilized immortalized human first-trimester EVT cells (HTR8/SVneo) for our functional study. We examined the effects of Gal-9 on viability, proliferation, and invasion of HTR8/SVneo cells, as well as on matrix metalloproteinase-2 (MMP-2) production in HTR8/SVneo cells. Furthermore, we observed the effects of different MAPK-signaling pathway inhibitors on the stimulatory functions of Gal-9 on HTR8/SVneo cells' invasion. Results: We verified the secretion of Gal-9 by trophoblasts and detected a correlation between low levels of Gal-9 and spontaneous abortion. Gal-9 promoted the invasion of HTR8/SVneo cells through its interaction with Tim-3, not CD44, and subsequently increased MMP-2 production. Blockade of p38 signaling pathway inhibited Gal-9 activities in HTR8/SVneo cells. Conclusion: Gal-9 promotes human trophoblast cell invasion through MMP-2 and p38 signaling pathway in a Tim-3-dependent manner.
  2,524 315 2
Effects of vitrification on the imprinted gene Snrpn in neonatal placental tissue
Jian-Feng Yao, Yan-Fang Huang, Rong-Fu Huang, Su-Xia Lin, Cai-Qiong Guo, Cheng-Zhou Hua, Pei-Ya Wu, Ji-Feng Hu, You-Zhu Li
January-March 2020, 4(1):25-31
Objective: To investigate the effects of vitrification on the expression of the imprinted gene Snrpn in neonatal placental tissue.Methods: Neonatal placental tissue was collected from women with natural pregnancy (control group) and from women in assisted reproductive technology (ART) pregnancy group, following fresh and vitrified embryo transfer (fresh group and vitrified group, respectively). Snrpn mRNA expression and SNRPN protein levels in placental tissue from these three groups were assessed by real-time reverse transcription polymerase chain reaction and Western blot, respectively. DNA methylation in the Snrpn promoter region was analyzed by bisulfite-pyrosequencing.Results: The expression of Snrpn mRNA and SNRPN protein was found to be higher in placental tissue from the fresh and vitrified ART groups, compared to the control group. There was no significant difference in SNRPN gene or protein expression between the fresh and vitrified groups. DNA methylation at the Snrpn promoter region was not significantly different between these three groups.Conclusions: Human ART may alter the transcriptional expression and protein levels of the imprinted gene Snrpn. However, compared to other ART methods, vitrification may not aggravate or reduce this effect. Moreover, the altered expression of Snrpn is likely not directly related to DNA methylation of the Snrpn promoter region.
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Strategies of infertility treatment with human immature oocytes
Ri-Cheng Chian, Ling Wang, Zhi-Yong Yang
October-December 2018, 2(4):237-248
Human immature oocytes can be matured in vitro following culture. In vitro maturation (IVM) refers to maturation in culture of immature oocytes at different stages that may or may not have been exposed to short courses of gonadotropins. The source of immature oocytes is an important feature for the subsequent embryonic development and pregnancy, as well healthy live births. IVM is an efficient treatment that has already achieved significant outcomes in terms of acceptable pregnancies and implantation rates and resulted in the births of several thousands of healthy babies. As the development of IVM treatment continues, an attractive possibility for improving the already successful outcome is to combine a natural cycle in vitro fertilization (IVF) treatment with an immature oocyte retrieval followed by IVM of those immature oocytes. If the treatment processes can be simplified with immature oocyte retrieval, different types of infertile women may be able to take advantage of these treatments. Although IVM treatment is still considered experimental by the society, it is time to reconsider the IVM technological evolution. Mild stimulation IVF combined with IVM treatment represents a viable alternative to the standard treatment, and as data accumulate over time, it may prove to be an optimal first-line treatment approach.
  2,462 246 1
Biological Functions and Research Methods of Long Noncoding RNAs
Jing Ma, Qing Chen, Duan Ma
January-March 2017, 1(1):23-29
Long noncoding RNAs (lncRNAs) are functional RNA molecules which are longer than 200 nucleotides in length that do not encode proteins; instead, they regulate target gene expression at transcriptional, posttranscriptional, and epigenetic levels. LncRNAs play important roles in various biological processes such as dosage compensation, genomic imprinting, cell cycle regulation, and cell differentiation. Although their characterizations have been relatively straightforward with recent advances in modern biology, the functions of lncRNAs are largely unknown. Herein, we discuss the biological functions and research methods of lncRNAs.
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