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56% of the women were at risk of female sexual dysfunction (FSD). Women doing regular aerobic exercise and use of contraception had higher FSFI scores, while those with a desire to conceive and clinical signs of hyperandrogenism had lower FSFI scores. There were negative associations of FSFI scores with age and body fat distribution. No significant associations between FSFI scores and hormonal factors (surprisingly including SHBG) were found, except for total testosterone and satisfaction (OR = 0.976, p = 0.002). HOMA-IR was significantly related to reduced desire score (OR = 0.914, p = 0.004) and lubrication score (OR = 0.964, p = 0.044). PCOS was associated with a high risk of FSD (defined according to FSFI) in about 80% of the women in our study, and clinical characteristics play a more important role.Prader-Willi syndrome (PWS) is a neurogenetic disorder caused by deficiency expression of paternally imprinted genes of the chromosomal region 15. In this study, we report a novel mutation in the myosin binding protein C (MYBPC3) gene in a Prader-Willi syndrome pedigree. Next-generation sequencing (NGS) and Sanger sequencing were performed to define and confirm the MYBPC3 gene mutation. Bioinformatics analysis was also performed for the mutated MYBPC3 protein using available software tools. The proband was diagnosed as PWS with about 4.727Mb copy number missed in the long arm of chromosome 15 and treated with growth hormone on 0.3 IU/day. Sanger sequencing identified a novel heterozygous mutation in the MYBPC3 gene, c.2002C>G (p.R668G). Bioinformatics analysis suggested the variant disease-causing; the Pro residue at 668 in the MYBPC3 protein was highly conserved. Moreover, interactions among MYBPC3 and other proteins suggested the potential effects on the development of cardiomyopathies. This is the first report of PWS with MYBPC3 gene mutation. Besides general examinations, it is vital for physicians to amply molecular genetics to get an accurate diagnosis in the clinic especially for rare diseases.Polycystic ovary syndrome (PCOS) is a significant public health issue with diverse presentations, including reproductive, metabolic, and psychological disorders. Although problems with ovulation, metabolism, and hormonal imbalance can be pharmacologically improved, even the excellent quality of transferred embryos does not necessarily increase the pregnancy rate. Poor endometrial receptivity in women with PCOS perturbs endometrial decidualization and blastocyst implantation, increasing adverse pregnancy outcomes, such as miscarriage and poor embryonic development. The etiological and pathophysiological mechanisms involved in defective endometrial receptivity in women with PCOS have not been fully elucidated to date. Various contributing factors have been reported as primary causes of defective endometrial receptivity in women with PCOS, including metabolic alterations, inflammatory events, and some abnormally expressed endometrial molecular markers. However, few studies to date have investigated in depth the complex mechanisms underlying the compromised endometrial receptivity in women with PCOS. This article reviews recent reports mainly on metabolic alterations and some new endometrial molecular markers in order to collate the existing data and improve our understanding in this field. The aim was to discuss current novel insights on defective endometrial receptivity in women with PCOS in order to provide a theoretical basis for reducing adverse pregnancy outcomes and improving the live birth rate in PCOS.Oocyte in vitro maturation (IVM) is a technology with a long history that was established before IVF. Although it has been studied extensively, the efficiency of IVM has been poor for almost 30 years. In terms of the benefits of IVM, the efficiency and adoption of IVM are being improved by some notable improvements that have occurred in recent years. The establishment of biphasic IVM is the most important advancement in recent years. Biphasic IVM includes the pre-IVM culturing phase and IVM phase. The CNP-mediated pre-IVM culturing system is specifically tailored for non/minimally stimulated immature oocytes, and its efficiency has been shown. This is the most significant improvement made in recent decades in this area. In the clinic, IVM can be used for PCOS patients to avoid the occurrence of ovarian hyperstimulation syndrome (OHSS). Additionally, this method can solve the reproductive problems of some patients with special diseases (resistant ovary syndrome) that cannot be solved by IVF. CCT128930 solubility dmso In most fertility preservation procedures, oocytes in small antral follicles are lost. However, IVM has the ability to capture this kind of oocyte and save reproductive potential. IVM can be easily combined with fertility preservation strategies that have been applied in the clinic and improve the efficiency of fertility preservation. IVM is a useful and attractive technology and may be used widely worldwide in the near future.The purpose of this research is to study the efficacy of GnRH-a versus r-hCG triggering in patients who go through fertility preservation cycles. This retrospective cohort study was performed in a tertiary university-affiliated medical center. It includes 191 patients undergoing fertility preservation cycles between May 2013 and September 2018, in which ovulation was induced by either GnRH-a or r-hCG. Main outcome measures were number and rate of mature oocyte. Among treatment cycles with medical indication, GnRH agonist significantly increases the odds for high mature rate by 3.55 (1.30-9.66), while in treatment cycles with social indication, there is no significant effect of the triggering agent. An advantage for GnRH-a triggering was observed in medically indicated preservation cycles.Long non-coding RNAs (lncRNAs) are crucial participants in cancer development. HOXA cluster antisense RNA 2 (HOXA-AS2) plays a tumor promoter role in bladder cancer. However, the functional role of HOXA-AS2 in cervical cancer remains unclear. Our study first found that HOXA-AS2 expression was up-regulated in cervical cancer cells. Then functional analysis including cell counting kit-8 (CCK-8), colony formation, transwell, and wound healing uncovered that reduction of HOXA-AS2 remarkably impeded cell proliferation and migration in cervical cancer. Additionally, luciferase reporter assays were performed to confirm that HOXA-AS2 activated Notch signaling pathway via the mediation of independent recombination signal binding protein for JK (RBP-JK) activity. As we know, Notch intracellular domain (NICD) is associated with RBP-JK in the nucleus to promote target genes in the Notch pathway. Through RNA immunoprecipitation (RIP), RNA pull down, and fluorescent in situ hybridization (FISH) assays, we observed that HOXA-AS2 combined with NICD. Moreover, the data from Co-IP assays indicated that HOXA-AS2 reduction weakened the interaction of NICD and RBP-JK. Collectively, HOXA-AS2 played a cancer-promoting role in cervical cancer development by modulating the Notch pathway, which might become a novel target for cervical cancer treatment.Methylmalonic acidemia combined with homocysteinemia and cobalamin C type (MMA-CblC, MIM # 277400) is a rare inherited disease with cobalamin metabolic disorder, which are caused by deficiency in the MMACHC gene. A couple with a proband child carried with compound heterozygous mutations of MMACHC (c.609G>A and c.567 dup T, NM_015506) sought for assisted reproductive technology to avoid the transmission of pathogenic genetic variants and unnecessary induction of labor. Thus, in vitro fertilization (IVF), preimplantation genetic testing (PGT), and prenatal genetic diagnosis were applied to fulfill this clinical demand. In this study, seven embryos were biopsied and carried out whole-genome amplification using multiple annealing and looping-based amplification cycle (MALBAC) method. Sanger sequencing together with copy number variation (CNV) analysis and single-nucleotide polymorphism (SNP) haplotyping was conducted to detect the mutated alleles and chromosomal abnormalities simultaneously. Three embryos (E07, E06, and E02) were confirmed without CNVs and inherited mutations at MMACHC gene. Embryo E07 with the best embryo ranking of 5BB was selected preferentially to transfer which led to a successful pregnancy and an unaffected live birth. Prenatal genetic diagnosing with amniotic fluid cells, Sanger sequencing with cord blood cells, and neonate MMA screening further verified our successful application of PGT in preventing mutated allele transmission for this rare inherited disease.The aim of the study is to compare the reproductive outcomes of different sperm selection techniques density gradient centrifugation (DGC), testicular sperm (Testi), physiological ICSI (PICSI), and magnetic-activated cell sorting (MACS) in abnormal sperm DNA fragmentation (SDF) ICSI patients. A randomized controlled trial included 302 patients with abnormal SDF undergoing ICSI where they were randomized into 4 groups a control group of DGC (n= 72), Testi (n=73), PICSI (n=78), and MACS (n=79). Results showed no significant differences in the male age, female age, or SDF between the four groups. Testi group had significantly lower cleavage and blastulation rates compared to PICSI, DGC, or MACS groups (p =0.001). For the high-quality blastocysts, DGC and MACS groups had significantly higher rate than the Testi group (p =0.014). The highest pregnancy rate was scored for the PICSI group (69.6%), while the lowest pregnancy rate was scored for the DGC group (51.4%) with (p =0.025). The PICSI group showed a significantly higher implantation rate compared to the other groups (p =0.003). Regarding the ongoing pregnancy rate, the significant difference was observed between the PICSI (62.8%) and MACS (62%) vs. DGC (45.8%). Besides, no significant differences were found in the miscarriage rates between the four groups. In conclusion, PICSI and MACS along with DGC showed significant improvement in embryological and clinical outcome over testicular sperm or sperm processed by DGC alone in patients with abnormal SDFRegistration number NCT04482517.Use of GnRH antagonists in IVF stimulation protocols shortens controlled ovarian hyperstimulation (COH) and reduces the risk of ovarian hyperstimulation syndrome (OHSS). However, profound reduction in LH levels has been associated with use of GnRH antagonists. This study aims to determine if LH suppression during GnRH antagonist cycles results in poorer IVF outcomes. This was a prospective pilot longitudinal study where serum LH levels were measured on day 2/3 of the menstrual cycle before COH, 1/2 days following institution of GnRH antagonist and at the day of ovulation trigger. A threshold of LH less then 0.5 IU/L was used to define profound LH suppression. Data on IVF outcomes was collected. Logistic regression analysis was used to investigate risk factors associated with LH suppression following GnRH antagonist IVF treatment. Ninety-one eligible women were recruited. Women underwent a standard antagonist cycle with Puregon 200u and Ganirelix. No participant had LH less then 0.5 IU/L prior to GnRH antagonist treatment, and 27 participants (29.7%) had significant LH suppression at either time point. Predictors of profound LH suppression following GnRH antagonist treatment identified (P less then 0.20) were age (OR = 0.80, P = 0.013), no previous ovulation induction (OR = 0.26, P = 0.033) and previous GnRH antagonist IVF cycle (OR = 4.32, P = 0.125). Numbers of oocytes, embryos and ongoing pregnancy rates at 12 weeks gestation in patients with and without LH suppression did not differ significantly. We found associations between clinical characteristics and risk of profound LH suppression in women undergoing GnRH antagonist IVF cycles, but no significant differences in IVF and pregnancy outcomes between women with and without significant LH suppression.