Background: The sonic hedgehog (SHH) pathway is an important signaling pathway for neural tube closure. GLI family zinc finger 2 (GLI2) is the major activation mediator of the SHH pathway; however, no single-nucleotide polymorphisms (SNPs) in GLI2 have been reported to be associated with human neural tube defects (NTDs) to date. Here, we evaluated a mutation in GLI2 in the Han Chinese population. Methods: We used SNPscan to genotype rs3738880 in the GLI2 coding region. We then investigated the function of this gene by Western blotting and dual-luciferase assays. Results: In this study, we found that the GLI2 missense variant rs3738880 significantly increased the risk of NTDs in the Han Chinese population via association studies in a cohort of 254 patients and 277 controls from Shanxi Province (odds ratio [OR] = 1.89, 95% confidence interval [CI] = 1.28–2.80, P = 0.0012). Additional stratified analyses demonstrated that rs3738880 was significantly related to spina bifida (114 cases, OR = 2.01, 95% CI = 1.19–3.38, P = 0.0067). Functional analysis revealed that rs3738880 did not affect GLI2 protein stability and significantly increased SHH activity because of the introduction of a potential phosphorylation site in GLI2. Conclusion: rs3738880 was a risk factor for NTDs in the Han Chinese population.

Background: The C-type lectin receptor (CLR) expressed by DCs participates in the recognition and capture of various glycosylated self-antigens and pathogens. Understanding the diversity of the CLR expressed by DCs, as well as their role in maintaining the balance between Th1-type and Th2-type cytokines would promote the understanding of the pathogenesis of many diseases including preeclampsia (PE). Methods: DCs were isolated from the placentae of healthy women who underwent normal pregnancies and infected with a CLR lentiviral (LV) vector for gene overexpression or small interfering RNA (siRNA) knockdown. DCs were cocultured with T-cells and EVCTs, and five groups were established as follows: Group 1 – DCs from healthy women who underwent normal pregnancies, Group 2 – DCs from women with preeclampsia (PE), Group 3 – DCs infected with empty LV vectors, Group 4 – DCs infected with a CLR LV vector for gene overexpression, and Group 5 – DCs infected with a CLR LV vector for siRNA knockdown. The levels of Th1- and Th2-type cytokines were measured in all groups. Results: The levels of Th1-type cytokines were significantly higher in women with PE than in those with normal pregnancies (P < 0.05). Among these five groups, the Th1/Th2 ratio of Group 5 was highest (P < 0.05). There was no difference in the Th1/Th2 ratio between Groups 1 and 3. Conclusions: There was a Th1/Th2 imbalance in women with PE displaying Th1-type immunity. CLR-overexpressing DCs showed a diminished capacity to polarize naïve T-cells into Th1 effector cells. The impaired Th1 response in DCs was rescued by CLR siRNA knockdown. In conclusion, DCs may affect the production of cytokines and the migration of T-cells through CLR-mediated signaling pathways during pregnancy.

Background: To investigate the effect of body mass index (BMI) on the outcomes of in vitro fertilization–embryo transfer (IVF–ET) treatment, and to provide evidence for future clinical studies of infertile women with different body mass indices. Methods: The relationship between pregnancy outcome and BMI in 717 infertile women who underwent IVF–ET was analyzed. Results: A total of 531 out of 717 patients were classified as having a standard body weight, and 20 patients were classified as obese. We found a significant difference in the basal follicle-stimulating hormone (FSH) level among the groups; the basal FSH level was lower in the obese group (6.80 ± 2.20 IU/L) than in the standard weight group (7.56 ± 2.25 IU/L). However, there were no significant differences in the age of females, the age of males, basal estradiol (E₂) and luteinizing hormone (LH) levels, length of infertility, and history of dysmenorrhea. Although the pregnancy rate was highest (54.6%) in the standard weight group and lowest (45.0%) in the obese group, there was no significant difference among these groups by Chi-square test analysis. Furthermore, there were no significant differences in gonadotropin-releasing hormone agonist days, number of 2PN, and the LH level on the day of human chorionic gonadotropin treatment among the groups. Conclusions: Obese women can improve a successful pregnancy rate after undergoing IVF–ET treatment by controlling weight.

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.

A matured oocyte has experienced three critical division stages: (1) proliferation in early fetal stage, (2) meiotic arrest at diplotene of prophase I, and (3) meiotic resumption and extrusion of the first polar body. The abnormalities of these stages are associated closely with female reproduction problems including primary ovarian insufficiency (POI), the pathogenic mechanisms of which consist of insufficient initial follicle number, accelerated follicle loss, and arrest of follicle development. Recently, many meiotic associated genetic factors were identified to be mutated in POI patients and mouse models, revealing the association between meiosis and ovarian reserve. In this review, we provide an overview of the genetic factors involved in meiotic prophase I and their pathogenic mechanisms in POI.

Mammalian spermatogenesis is a complicated and precisely controlled process that requires spermatogonial stem cells (SSCs). SSCs maintain the stem cell pool, balance self-renewal–commitment with differentiation, and produce millions of sperm daily. Self-renewal and differentiation are controlled by intrinsic factors within SSCs and extrinsic factors from the “niche.” In this review, we discuss the biology of SSCs and the factors regulating their self-renewal and differentiation.

Circular RNAs (circRNAs) represent a mysterious class of noncoding RNAs that are generated by the circularization of exons or introns and characterized as being highly stable and abundant. Although circRNAs have been studied for several decades, our knowledge of these molecules remains limited. With the development of innovative bioinformatic tools and sequencing methods, comprehensive studies of circRNAs are now available in the literature. There is emerging evidence to show that circRNAs play roles in the regulation of gene expression. In this review, several primary potential functions of circRNAs are summarized; these include binding to microRNA/RNA-binding proteins, inhibiting/promoting messenger RNA translation, and their own translation.

Congenital osteogenesis imperfecta is a rare autosomal dominant genetic disease. Pregnant women with the disease pose a treatment challenge to doctors who cannot predict the pregnancy outcome and recommend an appropriate abortive approach. We present the case report of a 26-year-old female who showed typical symptom of congenital osteogenesis imperfecta. Considering the heredity of the disease, the patient and her family decided to prematurely terminate the gestation. The patient presented with a treatment dilemma was difficult to identify a route of uterine entry because it was impossible to prop the patient in a lithotomy position. After consulting with the patient, the pregnancy was terminated by cesarean delivery. The surgery was successful; in our opinion, however, the cesarean delivery was not the best abortive approach to use in this case because of the severity of the procedure and the complications that could have arisen from it. Further studies are needed to identify a better abortive approach for similar cases.