Reproductive and Developmental Medicine最新文献_第5页

Functional analysis of missense mutations in GLI2 and GLI3 involved in congenital heart disease 先天性心脏病中GLI2和GLI3错义突变的功能分析

IF 0.8 4区医学

Reproductive and Developmental Medicine Pub Date : 2022-10-27 DOI: 10.1097/RD9.0000000000000048

Rui Peng, Lei Lu, Bing-Kun Lei, Hong-Yan Wang, Xiao-ying Yao

{"title":"Functional analysis of missense mutations in GLI2 and GLI3 involved in congenital heart disease","authors":"Rui Peng, Lei Lu, Bing-Kun Lei, Hong-Yan Wang, Xiao-ying Yao","doi":"10.1097/RD9.0000000000000048","DOIUrl":"https://doi.org/10.1097/RD9.0000000000000048","url":null,"abstract":"Objective: In this study, we aimed to explore the biological functions of 10 rare case-specific missense mutations in GLI2 and 4 in GLI3, which were previously screened in a cohort of 412 patients with congenital heart disease (CHD) and 213 normal controls from Shandong Province, China. Methods: A dual-luciferase reporter assay was used to assess the effects of these mutations in GLI2 and GLI3 on the activity of the sonic Hedgehog signaling pathway in HEK293T cells. Differences in protein levels between mutant and wild-type GLI2 and GLI3 were detected in HEK293T cells using Western blotting. Results: The dual-luciferase reporter assay showed that compared to the wild-type GLI2 protein, p.A1113V significantly increased activation of the sonic Hedgehog signaling pathway, whereas p.H78P and p.I1451S did not have a significant effect. The other mutations largely reduced the activation effect. Compared with the wild-type GLI3 protein, only p.A286V, among the four mutations, significantly reduced the activation effect on the SHH signaling pathway. Western blotting data showed reduced expression of GLI2 p.G716V, GLI2 p.K736N, GLI2 p.I1451S, and GLI3 p.A286V, whereas the remaining mutations had no significant effects. Conclusion: The mutations GLI2 c.2147G>T (p.G716V), GLI2 c.2208G>C (p.K736N), and GLI3 c.857C>T (p.A286V) involved in CHD affect the regulation of the sonic Hedgehog signaling pathway; thus, these rare missense mutations in GLI2 and GLI3 might increase the risk of CHD.","PeriodicalId":20959,"journal":{"name":"Reproductive and Developmental Medicine","volume":"7 1","pages":"83 - 87"},"PeriodicalIF":0.8,"publicationDate":"2022-10-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46391804","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Pregnancy outcomes of four different cycle protocols for frozen embryo transfer: a large retrospective cohort study 冷冻胚胎移植四种不同周期方案的妊娠结局:一项大型回顾性队列研究

IF 0.8 4区医学

Reproductive and Developmental Medicine Pub Date : 2022-10-25 DOI: 10.1097/RD9.0000000000000052

Yue Qian, Qi Wan, Xiao-Qing Bu, Tian Li, Xiaojun Tang, Yan Jia, Qian Feng, Xing-yu Lv, Xiang-Qian Meng, Yin Yang, Yuchun Ding, L. Geng, Min Xia, Zhao-hui Zhong

{"title":"Pregnancy outcomes of four different cycle protocols for frozen embryo transfer: a large retrospective cohort study","authors":"Yue Qian, Qi Wan, Xiao-Qing Bu, Tian Li, Xiaojun Tang, Yan Jia, Qian Feng, Xing-yu Lv, Xiang-Qian Meng, Yin Yang, Yuchun Ding, L. Geng, Min Xia, Zhao-hui Zhong","doi":"10.1097/RD9.0000000000000052","DOIUrl":"https://doi.org/10.1097/RD9.0000000000000052","url":null,"abstract":"Objective: To evaluate the pregnancy outcomes of the four endometrial preparation protocols for people undergoing frozen-thawed embryo transfer (FET), including natural cycle (NC), hormone replacement therapy cycle (HRT), gonadotropin-releasing hormone agonist artificial cycle (GAC), and ovarian stimulation cycle (OC). Methods: This retrospective cohort study enrolled 10,333 cycles of frozen embryo transfer performed at Xinan Gynecological Hospital in Sichuan, China, from January 2018 to December 2018. The patient’s baseline characteristics and pregnancy outcomes were extracted from the medical record system. Pregnancy outcomes were compared among the four groups and multiple logistic regression models were used to adjust for the confounding factors. Results: After adjusting for covariates, multiple logistic regression analysis showed no statistical significance in pregnancy outcomes in the HRT group, GAC group, and OC group compared to the NC group in the entire population. The adjusted odds ratio of live birth was 0.976 (95% confidence interval [CI] 0.837–1.138) for the HRT group, 0.959 (95% confidence interval 0.797–1.152) for the GAC group, and 0.909 (95% confidence interval 0.763–1.083) for the OC group. Conclusions: The natural protocol had comparable pregnancy outcomes compared to the other three endometrial preparation protocols in the overall FET population. More high-quality prospective randomized controlled trials are required to assess the efficacy of the four protocols and explore the optimal one.","PeriodicalId":20959,"journal":{"name":"Reproductive and Developmental Medicine","volume":"7 1","pages":"135 - 141"},"PeriodicalIF":0.8,"publicationDate":"2022-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46943003","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Association of sleep characteristics and night shift work with self-reported diagnosis of polycystic ovary syndrome: a questionnaire-based cross-sectional study 睡眠特征和夜班工作与多囊卵巢综合征自我报告诊断的关联:一项基于问卷的横断面研究

IF 0.8 4区医学

Reproductive and Developmental Medicine Pub Date : 2022-10-21 DOI: 10.1097/RD9.0000000000000051

Shuyi Shao, Huanhuan Zhao, Zhi-ying Lu, Xiaorong Lei, Ying Zhang

{"title":"Association of sleep characteristics and night shift work with self-reported diagnosis of polycystic ovary syndrome: a questionnaire-based cross-sectional study","authors":"Shuyi Shao, Huanhuan Zhao, Zhi-ying Lu, Xiaorong Lei, Ying Zhang","doi":"10.1097/RD9.0000000000000051","DOIUrl":"https://doi.org/10.1097/RD9.0000000000000051","url":null,"abstract":"Objective: To examine the association between sleep characteristics and night shift work and the risk of polycystic ovary syndrome (PCOS) in Chinese women and to investigate their relationship with infertility in PCOS. Methods: From March 21, 2021 to April 31, 2021, 3927 Chinese women with or without PCOS were recruited online. All participants completed WeChat-based electronic questionnaires. Sleep characteristics were measured using the Pittsburgh sleep quality index. Results: A total of 2871 women were included in the final analysis. Sleep duration (odds ratio [OR], 0.857; 95% confidence interval [CI], 0.763–0.963), sleep midpoint (OR, 1.142; 95% CI, 1.049–1.244), sleep disturbance (OR, 1.320; 95% CI, 0.957–1.146), daytime dysfunction (OR, 1.136; 95% CI, 1.030–1.253), and night shift work (OR, 1.628; 95% CI, 1.264–2.097) were associated with a higher risk of PCOS. After adjusting for confounders, including age, body mass index, smoking status, and coffee and tea drinking status, sleep disturbance (OR, 1.314; 95% CI, 1.111–1.555), daytime dysfunction (OR, 1.143; 95% CI, 1.034–1.264), and night shift work (OR, 1.800; 95% CI, 1.388–2.333) remained associated. In addition, sleep disturbance (OR, 1.887; 95% CI, 1.400–2.542) and subjective sleep quality (OR, 1.299; 95% CI, 1.037–1.627) were associated with infertility in women with PCOS, and sleep disturbance (OR, 1.750; 95% CI, 1.281–2.390) remained significant after adjusting for confounders. Conclusions: Sleep disturbance, daytime dysfunction, and night shift work are significantly associated with PCOS. Screening for sleep disturbances and providing appropriate treatment could be potential strategies for managing PCOS and its long-term complications.","PeriodicalId":20959,"journal":{"name":"Reproductive and Developmental Medicine","volume":"7 1","pages":"50 - 55"},"PeriodicalIF":0.8,"publicationDate":"2022-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42608942","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The perivascular niche of endometrial mesenchymal stromal/stem-like cells 子宫内膜间充质基质/干细胞样细胞的血管周围生态位

IF 0.8 4区医学

Reproductive and Developmental Medicine Pub Date : 2022-09-21 DOI: 10.1097/RD9.0000000000000038

R. Chan, Tian-Qi Li, Sisi Zhang, Yuan Fang, Jingxuan Xu

引用次数: 0

Reliability and validity of generalized anxiety disorder 7-item scale in early pregnant women 早期妊娠妇女广泛性焦虑障碍7项量表的信度和效度

IF 0.8 4区医学

Reproductive and Developmental Medicine Pub Date : 2022-09-21 DOI: 10.1097/RD9.0000000000000046

Li-li Gong, Xiaodi Xie, Si-Tong Liu, Weihong Hu, Yu-Jie Niu, Yi Sun, Jun-sheng Liu, X. Xia

{"title":"Reliability and validity of generalized anxiety disorder 7-item scale in early pregnant women","authors":"Li-li Gong, Xiaodi Xie, Si-Tong Liu, Weihong Hu, Yu-Jie Niu, Yi Sun, Jun-sheng Liu, X. Xia","doi":"10.1097/RD9.0000000000000046","DOIUrl":"https://doi.org/10.1097/RD9.0000000000000046","url":null,"abstract":"Objective: This study aimed to evaluate the structural reliability and validity of generalized anxiety disorder 7-item (GAD-7) scale in early pregnant women. Methods: In this cross-sectional study, 30,823 patients in early pregnancy registered in the Obstetrics and Gynecology Hospital of Fudan University completed the GAD-7 scale and patient health questionnaire-9 item (PHQ-9). The discriminative ability, reliability, construct validity, and criterion validity were assessed to evaluate the psychometric properties and factor structures. Items with a discrimination parameter (α) of <0.65, factor loading of <0.30, or cross loading of >0.40 in two or more factors simultaneously were deleted from the scale. Results: All GAD-7 scale items exhibited a high discrimination power. The reliability of the GAD-7 scale was good (Cronbach’s alpha coefficient = 0.891). Exploratory factor analysis extracted one factor with eigenvalues of greater than 1.0, which explained 61.930% of the common variance. Confirmatory factor analysis confirmed that the one-factor structure fitted the data well. The correlation coefficient with the PHQ-9 was 0.639. Conclusion: The Chinese version of the GAD-7 scale can be used as a screening tool for early pregnant women. It performs well in terms of discriminative ability, reliability, construct validity, and criterion validity. Pregnant women who screen positive may require more attention and investigation to confirm the presence of generalized anxiety disorder.","PeriodicalId":20959,"journal":{"name":"Reproductive and Developmental Medicine","volume":"6 1","pages":"249 - 253"},"PeriodicalIF":0.8,"publicationDate":"2022-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43270023","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Evaluating Chromosomal Segregation in a Family Where Both Spouses Carry an Autosomal Translocation 评估一个配偶均携带常染色体易位的家族的染色体分离

IF 0.8 4区医学

Reproductive and Developmental Medicine Pub Date : 2022-09-21 DOI: 10.1097/rd9.0000000000000041

I. L. Puppo, Z. Tonyan, A. Saifitdinova, J. A. Loginova, A. Kinunen, A. N. Panina, Julia R. Pastuhova, O. A. Leonteva, O. Chiryaeva, Olga V. Маlysheva, O. Glotov, I. V. Poliakova, A. Tikhonov, T. Vavilova, I. Menshikova, Elvira V. Isakova, A. Glotov, Natalya K. Bichevaya

引用次数: 0

Single-cell analysis in endometrial research 子宫内膜研究中的单细胞分析

IF 0.8 4区医学

Reproductive and Developmental Medicine Pub Date : 2022-09-21 DOI: 10.1097/RD9.0000000000000037

Dan Cao, Jue Wang, Yuan Yao, W. Yeung

引用次数: 0

Single-cell sequencing analysis of the maternal–fetal interface 母胎界面单细胞测序分析

IF 0.8 4区医学

Reproductive and Developmental Medicine Pub Date : 2022-09-21 DOI: 10.1097/rd9.0000000000000045

Pei-Ru Wei, Yi-Hua Yang

引用次数: 1

Preimplantation genetic testing for aneuploidy improves clinical outcomes in patients with repeated implantation failure 非整倍体植入前基因检测可改善重复植入失败患者的临床结果

IF 0.8 4区医学

Reproductive and Developmental Medicine Pub Date : 2022-09-21 DOI: 10.1097/RD9.0000000000000043

Ruihuan Gu, Jing Fu, Naidong Ge, Zhichao Li, Bin Huang, Yan Xu, Yao-Yu Zou, Lu Li, Yi-juan Sun, Xiao-Xi Sun

{"title":"Preimplantation genetic testing for aneuploidy improves clinical outcomes in patients with repeated implantation failure","authors":"Ruihuan Gu, Jing Fu, Naidong Ge, Zhichao Li, Bin Huang, Yan Xu, Yao-Yu Zou, Lu Li, Yi-juan Sun, Xiao-Xi Sun","doi":"10.1097/RD9.0000000000000043","DOIUrl":"https://doi.org/10.1097/RD9.0000000000000043","url":null,"abstract":"Objective: The objective of this study is to study whether preimplantation genetic testing for aneuploidy (PGT-A) improves the clinical outcomes of infertile patients with repeated implantation failure (RIF) undergoing frozen-thawed embryo transfer. Methods: This is a retrospective analysis of clinical pregnancy, live birth, miscarriage rates, and obstetric and perinatal outcomes of women with RIF with or without PGT-A. Statistical analyses of categorical data were performed using propensity score matching (PSM), χ2 test, and Student’s t test. Results: We enrolled 466 patients with RIF, of which, 209 were in the RIF-PGT-A group. The rate of euploid blastocysts was significantly associated with age and day 5 or 6 blastocysts. There were significant differences between the RIF-PGT-A group and the RIF-non-PGT-A group across several parameters. After PSM, positive serum human chorionic gonadotropin (56.9% and 33.9%, P <0.01), clinical pregnancy (49.5% and 31.2%, P <0.01), live birth (43.1% and 25.7%, P <0.01), and fetal heart rates (50.0% and 29.8%, P <0.01) per transfer were significantly higher in the RIF-PGT-A group. Conclusion: Elective single-embryo transfer PGT-A can minimize the risk of obstetric and perinatal outcomes, especially fetal body weight, in women with RIF. Additionally, PGT-A can significantly improve pregnancy and live birth rates.","PeriodicalId":20959,"journal":{"name":"Reproductive and Developmental Medicine","volume":"7 1","pages":"12 - 19"},"PeriodicalIF":0.8,"publicationDate":"2022-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46433089","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Blastocyst-like embryo surrogates from stem cells in implantation models 胚胎植入模型中干细胞的芽细胞样胚胎替代物

IF 0.8 4区医学

Reproductive and Developmental Medicine Pub Date : 2022-09-21 DOI: 10.1097/rd9.0000000000000042

S. Tian, H. Ruan, W. Yeung, Yin-Lau Lee

引用次数: 0