Pub Date : 2022-07-14DOI: 10.1097/RD9.0000000000000017
Yaohua Chen, Biaobang Chen, Qing Sang, Lei Wang, Jun-li Zhao, Xiaoxing Sun
Objective: This study aimed to screen for novel mutations in ACTL7A and expand the spectrum of known mutations responsible for recurrent fertilization failure. Methods: Whole-exome sequencing was performed on samples from couples who experienced recurrent assisted reproductive technology failure and visited the General Hospital of Ningxia Medical University. Western blotting and quantitative Real-time PCR were used to investigate the effects of the mutation on HEK293T cells. Results: Samples from 12 couples with total fertilization failure or poor fertilization (fertilization rate <20%) were subjected to whole-exome sequencing, and a novel homozygous protein-truncating mutation (c. 1101dupC, p. S368Qfs*5) in ACTL7A was identified in a patient with recurrent poor fertilization. The mutant resulted in a truncated protein as well as decreased protein expression level in HEK293T cells. Conclusions: Our findings expand the mutational and phenotypic spectrum of ACTL7A, thus providing a potential diagnostic marker for fertilization failure due to male factors.
{"title":"A homozygous protein-truncating mutation in ACTL7A causes male infertility characterized by fertilization failure","authors":"Yaohua Chen, Biaobang Chen, Qing Sang, Lei Wang, Jun-li Zhao, Xiaoxing Sun","doi":"10.1097/RD9.0000000000000017","DOIUrl":"https://doi.org/10.1097/RD9.0000000000000017","url":null,"abstract":"Objective: This study aimed to screen for novel mutations in ACTL7A and expand the spectrum of known mutations responsible for recurrent fertilization failure. Methods: Whole-exome sequencing was performed on samples from couples who experienced recurrent assisted reproductive technology failure and visited the General Hospital of Ningxia Medical University. Western blotting and quantitative Real-time PCR were used to investigate the effects of the mutation on HEK293T cells. Results: Samples from 12 couples with total fertilization failure or poor fertilization (fertilization rate <20%) were subjected to whole-exome sequencing, and a novel homozygous protein-truncating mutation (c. 1101dupC, p. S368Qfs*5) in ACTL7A was identified in a patient with recurrent poor fertilization. The mutant resulted in a truncated protein as well as decreased protein expression level in HEK293T cells. Conclusions: Our findings expand the mutational and phenotypic spectrum of ACTL7A, thus providing a potential diagnostic marker for fertilization failure due to male factors.","PeriodicalId":20959,"journal":{"name":"Reproductive and Developmental Medicine","volume":"6 1","pages":"169 - 174"},"PeriodicalIF":0.8,"publicationDate":"2022-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41675578","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}
Pub Date : 2022-07-13DOI: 10.1097/RD9.0000000000000024
Ruijing Lu, Jing Zhu, Fang-Yuan Li, Q. Xue
Endometriosis (EM) is a benign gynecological disease that affects the fertility and health of women of reproductive age; it is characterized by the presence of endometrial glands and stroma outside the uterine cavity. Although several hypotheses have been proposed to explain the underlying cause of EM, its pathogenesis remains obscure. Recently, non-coding RNAs were reported to be involved in the occurrence and development of EM. MicroRNAs and long non-coding RNAs are the main members of the non-coding RNA family that contribute to EM progression in various aspects, such as cell proliferation, apoptosis, invasion, and angiogenesis. Angiogenesis plays a pivotal role in the initiation and development of EM and provides a substantial background for the invasion, proliferation, and long-term growth of endometriotic implants. This review aimed to investigate the role of microRNAs and long non-coding RNAs in regulating angiogenesis in EM and discuss how this mechanism can be used for diagnostic and therapeutic purposes in EM.
{"title":"Regulation of angiogenesis by microRNAs and long non-coding RNAs in endometriosis","authors":"Ruijing Lu, Jing Zhu, Fang-Yuan Li, Q. Xue","doi":"10.1097/RD9.0000000000000024","DOIUrl":"https://doi.org/10.1097/RD9.0000000000000024","url":null,"abstract":"Endometriosis (EM) is a benign gynecological disease that affects the fertility and health of women of reproductive age; it is characterized by the presence of endometrial glands and stroma outside the uterine cavity. Although several hypotheses have been proposed to explain the underlying cause of EM, its pathogenesis remains obscure. Recently, non-coding RNAs were reported to be involved in the occurrence and development of EM. MicroRNAs and long non-coding RNAs are the main members of the non-coding RNA family that contribute to EM progression in various aspects, such as cell proliferation, apoptosis, invasion, and angiogenesis. Angiogenesis plays a pivotal role in the initiation and development of EM and provides a substantial background for the invasion, proliferation, and long-term growth of endometriotic implants. This review aimed to investigate the role of microRNAs and long non-coding RNAs in regulating angiogenesis in EM and discuss how this mechanism can be used for diagnostic and therapeutic purposes in EM.","PeriodicalId":20959,"journal":{"name":"Reproductive and Developmental Medicine","volume":"6 1","pages":"133 - 137"},"PeriodicalIF":0.8,"publicationDate":"2022-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45150470","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}
Pub Date : 2022-07-13DOI: 10.1097/rd9.0000000000000016
Jia-qi Zhou, Wen-Ji Wang, G. Xia, Chao Wang
{"title":"The programmed death of fetal oocytes and the correlated surveillance mechanisms","authors":"Jia-qi Zhou, Wen-Ji Wang, G. Xia, Chao Wang","doi":"10.1097/rd9.0000000000000016","DOIUrl":"https://doi.org/10.1097/rd9.0000000000000016","url":null,"abstract":"","PeriodicalId":20959,"journal":{"name":"Reproductive and Developmental Medicine","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2022-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45820821","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}
Pub Date : 2022-07-13DOI: 10.1097/RD9.0000000000000013
O. Efremova, I. Ponomarenko, M. Churnosov
Objective: Metabolic disturbances in the folate cycle in mothers can lead to fetal growth retardation (FGR). This study was to analyze the role of intergenic interactions among maternal folate cycle genes in the development of FGR. Methods: This case-control study recruited 365 women in the third trimester of pregnancy, including 122 FGR patients and 243 controls. The women were genotyped for 5 polymorphisms of the 4 folate cycle genes: MTR (rs1805087), MTRR (rs1801394), serine hydroxymethyl transferase (SHMT1; rs1979277), and TYMS (rs699517 and rs2790). The SNP × SNP interactions in the two-, three-, and four-locus models were analyzed using the multifactor dimensionality reduction method and a modification of it (the model-based multifactor dimensionality reduction method). Results: Four loci of maternal folate cycle genes (rs1805087 MTR, rs2790 TYMS, rs1801394 MTRR, and rs1979277 SHMT1) were associated with FGR in 3 significant models of single nucleotide polymorphism (SNP) × SNP interactions (two-, three-, and four-locus models) (P <0.05). The highest contribution to FGR was made by polymorphic loci rs1979277 SHMT1 (1.70% of entropy), rs1805087 MTR (0.96%), and interactions between rs1979277 SHMT1 × rs1805087 MTR (-1.11%) and rs1801394 MTRR × rs1979277 SHMT1 (−0.64%). The four-locus maternal genotype combination AG rs1801394 MTRR × AA rs1805087 MTR × CT rs1979277 SHMT1 × AG rs2790 TYMS was associated with an increased risk of FGR (β = 2.69, P = 0.012). FGR-associated SNPs were correlated with the expression of 16 genes (MTR, MTRR, SHMT1, ALKBH5, CTD-2303H24.2, ENOSF1, FAM106A, FOXO3B, LGALS9C, LLGL1, MIEF2, NOS2P2, RP11-806L2.6, SMCR8, TOP3A, and USP32P2) in various tissues and organs related to FGR pathophysiology. Conclusion: SNP × SNP interactions of maternal folate cycle genes (MTR, MTRR, SHMT1, and TYMS) are associated with the development of FGR.
目的：母亲叶酸循环中的代谢紊乱可导致胎儿生长迟缓（FGR）。本研究旨在分析母体叶酸循环基因之间的基因间相互作用在FGR发展中的作用。方法：本病例对照研究招募了365名妊娠晚期妇女，包括122名FGR患者和243名对照者。对这些妇女进行了4个叶酸循环基因的5个多态性的基因分型：MTR（rs1805087）、MTRR（rs1801394）、丝氨酸羟甲基转移酶（SHMT1；rs1979277）和TYMS（rs699517和rs2790）。使用多因素降维方法及其修改（基于模型的多因素降维和方法）分析了两个、三个和四个基因座模型中SNP×SNP的相互作用。结果：在单核苷酸多态性（SNP）×SNP相互作用的3个显著模型（2个、3个和4个位点模型）中，母体叶酸循环基因的4个位点（rs1805087 MTR、rs2790 TYMS、rs1801394 MTRR和rs1979277 SHMT1）与FGR相关（P<0.05），以及rs1979277 SHMT1×rs1805087 MTR（-11.11%）和rs1801394 MTRR×rs1979277SHMT1（-0.64%）之间的相互作用。四位点母体基因型组合AG rs1801394MTRR×AA rs1805087MTR×CT rs19792七十七SHMT1 x AG rs2790TYMS与FGR风险增加相关（β=2.69，P=0.012）。FGR相关SNPs与16个基因的表达相关（MTR、MTRR、SHMT1、ALKBH5、CTD-2303H24.2、ENOSF1、FAM106A、FOXO3B、LGALS9C、LLGL1、MIEF2、NOS2P2、RP11-806L2.6、SMCR8、TOP3A和USP32P2）。结论：母体叶酸循环基因（MTR、MTRR、SHMT1和TYMS）的SNP×SNP相互作用与FGR的发生有关。
{"title":"Role of intergenic interactions among folate cycle genes in the development of fetal growth retardation","authors":"O. Efremova, I. Ponomarenko, M. Churnosov","doi":"10.1097/RD9.0000000000000013","DOIUrl":"https://doi.org/10.1097/RD9.0000000000000013","url":null,"abstract":"Objective: Metabolic disturbances in the folate cycle in mothers can lead to fetal growth retardation (FGR). This study was to analyze the role of intergenic interactions among maternal folate cycle genes in the development of FGR. Methods: This case-control study recruited 365 women in the third trimester of pregnancy, including 122 FGR patients and 243 controls. The women were genotyped for 5 polymorphisms of the 4 folate cycle genes: MTR (rs1805087), MTRR (rs1801394), serine hydroxymethyl transferase (SHMT1; rs1979277), and TYMS (rs699517 and rs2790). The SNP × SNP interactions in the two-, three-, and four-locus models were analyzed using the multifactor dimensionality reduction method and a modification of it (the model-based multifactor dimensionality reduction method). Results: Four loci of maternal folate cycle genes (rs1805087 MTR, rs2790 TYMS, rs1801394 MTRR, and rs1979277 SHMT1) were associated with FGR in 3 significant models of single nucleotide polymorphism (SNP) × SNP interactions (two-, three-, and four-locus models) (P <0.05). The highest contribution to FGR was made by polymorphic loci rs1979277 SHMT1 (1.70% of entropy), rs1805087 MTR (0.96%), and interactions between rs1979277 SHMT1 × rs1805087 MTR (-1.11%) and rs1801394 MTRR × rs1979277 SHMT1 (−0.64%). The four-locus maternal genotype combination AG rs1801394 MTRR × AA rs1805087 MTR × CT rs1979277 SHMT1 × AG rs2790 TYMS was associated with an increased risk of FGR (β = 2.69, P = 0.012). FGR-associated SNPs were correlated with the expression of 16 genes (MTR, MTRR, SHMT1, ALKBH5, CTD-2303H24.2, ENOSF1, FAM106A, FOXO3B, LGALS9C, LLGL1, MIEF2, NOS2P2, RP11-806L2.6, SMCR8, TOP3A, and USP32P2) in various tissues and organs related to FGR pathophysiology. Conclusion: SNP × SNP interactions of maternal folate cycle genes (MTR, MTRR, SHMT1, and TYMS) are associated with the development of FGR.","PeriodicalId":20959,"journal":{"name":"Reproductive and Developmental Medicine","volume":"7 1","pages":"32 - 37"},"PeriodicalIF":0.8,"publicationDate":"2022-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47865949","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}
Objective: To study the 12-month effects and possible mechanisms of low-dose mifepristone in the treatment of adenomyosis. Methods: Patients included in this retrospective study had painful adenomyosis and previously received 5 mg mifepristone daily (group A, n = 45) or 5 mg mifepristone daily with a poor-effect levonorgestrel-releasing intrauterine device (group B, n = 13) for 12 months. Uterine size, serum CA125 levels, estradiol levels, Visual Analogue Scale (VAS) score, endometrial thickness, and hemoglobin levels were compared before and after treatment and investigated again at 3 to 6 months after drug withdrawal. Another 8 patients with adenomyosis (group C, n = 8) who underwent surgery for severe dysmenorrhea during the same period were only used as a control group for immunohistochemical research. Endometrial biopsy results and expression of nerve growth factor (NGF), cyclooxygenase-2 (COX-2), and nuclear-associated antigen Ki-67 (Ki-67) in endometrial tissues and adenomyotic lesions were also analyzed. Results: The VAS scores in both experimental groups at all time points during treatment and follow-up were significantly lower (P <0.001) than those before treatment. The uterine size was significantly reduced, and endometrial thickness was distinctly thicker after 12 months of treatment than that before treatment in group A receiving 5 mg/d mifepristone. The immunohistochemical expression of NGF and COX-2 decreased in both eutopic and ectopic endometrium after treatment, whereas that of Ki-67 slightly increased in eutopic endometrium after treatment and rapidly recovered to the baseline value after stopping mifepristone. There were no signs of hyperplasia, atypical hyperplasia, or malignancy in the endometrial biopsies. Conclusions: The results suggested that a daily dose of 5 mg mifepristone for 12 months down-regulated the expression of NGF and COX-2 and was effective in treating painful adenomyosis with few side effects.
{"title":"Investigation of the 12-month efficacy and safety of low-dose mifepristone in the treatment of painful adenomyosis","authors":"Shu-yi Chen, Mengchao Zhao, Wen-Ting Sun, Li-bo Zhu, Xin-Mei Zhang","doi":"10.1097/RD9.0000000000000031","DOIUrl":"https://doi.org/10.1097/RD9.0000000000000031","url":null,"abstract":"Objective: To study the 12-month effects and possible mechanisms of low-dose mifepristone in the treatment of adenomyosis. Methods: Patients included in this retrospective study had painful adenomyosis and previously received 5 mg mifepristone daily (group A, n = 45) or 5 mg mifepristone daily with a poor-effect levonorgestrel-releasing intrauterine device (group B, n = 13) for 12 months. Uterine size, serum CA125 levels, estradiol levels, Visual Analogue Scale (VAS) score, endometrial thickness, and hemoglobin levels were compared before and after treatment and investigated again at 3 to 6 months after drug withdrawal. Another 8 patients with adenomyosis (group C, n = 8) who underwent surgery for severe dysmenorrhea during the same period were only used as a control group for immunohistochemical research. Endometrial biopsy results and expression of nerve growth factor (NGF), cyclooxygenase-2 (COX-2), and nuclear-associated antigen Ki-67 (Ki-67) in endometrial tissues and adenomyotic lesions were also analyzed. Results: The VAS scores in both experimental groups at all time points during treatment and follow-up were significantly lower (P <0.001) than those before treatment. The uterine size was significantly reduced, and endometrial thickness was distinctly thicker after 12 months of treatment than that before treatment in group A receiving 5 mg/d mifepristone. The immunohistochemical expression of NGF and COX-2 decreased in both eutopic and ectopic endometrium after treatment, whereas that of Ki-67 slightly increased in eutopic endometrium after treatment and rapidly recovered to the baseline value after stopping mifepristone. There were no signs of hyperplasia, atypical hyperplasia, or malignancy in the endometrial biopsies. Conclusions: The results suggested that a daily dose of 5 mg mifepristone for 12 months down-regulated the expression of NGF and COX-2 and was effective in treating painful adenomyosis with few side effects.","PeriodicalId":20959,"journal":{"name":"Reproductive and Developmental Medicine","volume":"6 1","pages":"152 - 161"},"PeriodicalIF":0.8,"publicationDate":"2022-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42737012","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}
Pub Date : 2022-07-13DOI: 10.1097/RD9.0000000000000027
Xian Chen, Shuya Sun, E. Ng, R. Li, W. Yeung, Kai-Fai Lee
This review summarizes the drugs and chemicals that may modulate embryo implantation. Non-hormonal molecules, including aspirin, improved endometrial blood flow, while low molecular weight heparin, vitamin E, sildenafil, and atosiban modulated the expression of endometrial genes. Hormonal factors, including human chorionic gonadotropin and growth hormones, can regulate the expression of endometrial receptivity markers. Other immunomodulatory molecules, including granulocyte colony-stimulating factor, peripheral blood mononuclear cells, autologous platelet-rich plasma, and intralipid and intravenous immunoglobulins, may improve implantation rate by modulating endometrial immune functions. Medicinal extracts of the Chinese herbs Paeonia lactiflora and Perilla frutescens increased the expression of leukemia inhibitory factors in endometrial epithelial cells. Recently, the use of the commercially available Library of Pharmacologically Active Compounds with a high-throughput screening method has provided an approach to screen for compounds that may potentially enhance or suppress embryo implantation. Whether these biomedical findings translate into clinical effects that enhance or suppress embryo implantation requires further investigation.
{"title":"Use of biological and chemical molecules in regulating embryo implantation and endometrial receptivity","authors":"Xian Chen, Shuya Sun, E. Ng, R. Li, W. Yeung, Kai-Fai Lee","doi":"10.1097/RD9.0000000000000027","DOIUrl":"https://doi.org/10.1097/RD9.0000000000000027","url":null,"abstract":"This review summarizes the drugs and chemicals that may modulate embryo implantation. Non-hormonal molecules, including aspirin, improved endometrial blood flow, while low molecular weight heparin, vitamin E, sildenafil, and atosiban modulated the expression of endometrial genes. Hormonal factors, including human chorionic gonadotropin and growth hormones, can regulate the expression of endometrial receptivity markers. Other immunomodulatory molecules, including granulocyte colony-stimulating factor, peripheral blood mononuclear cells, autologous platelet-rich plasma, and intralipid and intravenous immunoglobulins, may improve implantation rate by modulating endometrial immune functions. Medicinal extracts of the Chinese herbs Paeonia lactiflora and Perilla frutescens increased the expression of leukemia inhibitory factors in endometrial epithelial cells. Recently, the use of the commercially available Library of Pharmacologically Active Compounds with a high-throughput screening method has provided an approach to screen for compounds that may potentially enhance or suppress embryo implantation. Whether these biomedical findings translate into clinical effects that enhance or suppress embryo implantation requires further investigation.","PeriodicalId":20959,"journal":{"name":"Reproductive and Developmental Medicine","volume":"6 1","pages":"234 - 242"},"PeriodicalIF":0.8,"publicationDate":"2022-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46409506","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}
Pub Date : 2022-07-12DOI: 10.1097/RD9.0000000000000012
Yun-lei Cao, Xi Wang, Xi-shi Liu, T. Harada, Sun-Wei Guo
Objective: Despite the fact that adenomyosis is a fairly common gynecological disorder, its pathogenesis remains elusive. Several theories on the pathogenesis of adenomyosis have been proposed, but none of them has been proven experimentally. So far, the most used one is the neonatal feeding of tamoxifen (TAM) in Institute of Cancer Research/cryopreserved (ICR/CD-1) mouse. However, its underlying mechanism of action is unknown. To further delineate the mechanism of TAM-induced adenomyosis in ICR/CD-1 mouse with regard to specific estrogen receptor (ER), we conducted an experiment that neonatal mice were fed with either TAM, or 4,4′,4″-(4-propyl-[1H]-pyrazole-1,3,5-triyl) trisphenol (PPT; an ERα agonist), or 2,3-bis(4-hydroxyphenyl)-propionitrile (DPN; an ERβ agonist), or G-1 (a G-protein coupled receptor 30 agonist), or just vehicle, in an attempt to tease out which specific receptor plays a dominant role in the genesis of adenomyosis induced by neonatal feeding of TAM. Methods: Forty female neonatal mice were randomly divided into 5 equal-sized groups: CTL (control), TAM, PPT, DPN, and G-1. Three months later, all mice were sacrificed and their uterine horns were harvested, weighed, and processed for histological evaluation. Results: All mice in the TAM group developed adenomyosis, so did 4 mice (50%) in the DPN group, a result that should be considered significant given that mice in the CTL group would not develop adenomyosis. No mouse in the PPT or G-1 group developed adenomyosis. Remarkably, all lesions in the DPN group were seen exclusively near the uterine serosa, which are dramatically different from that of TAM mice and reminiscent of extrinsic or external adenomyosis in humans. Conclusions: Neonatal feeding of DPN induces adenomyosis, but the adenomyotic lesions appear to be different from those induced by TAM. Thus, the cause of TAM-induced adenomyosis in ICR/CD-1 mouse cannot be attributable to one specific ER alone. This suggests that the extrinsic/external adenomyosis may have a pathogenesis that is different from other sub-types of adenomyosis.
{"title":"Neonatal feeding of an estrogen receptor β agonist induces external adenomyosis-like lesions in ICR mouse","authors":"Yun-lei Cao, Xi Wang, Xi-shi Liu, T. Harada, Sun-Wei Guo","doi":"10.1097/RD9.0000000000000012","DOIUrl":"https://doi.org/10.1097/RD9.0000000000000012","url":null,"abstract":"Objective: Despite the fact that adenomyosis is a fairly common gynecological disorder, its pathogenesis remains elusive. Several theories on the pathogenesis of adenomyosis have been proposed, but none of them has been proven experimentally. So far, the most used one is the neonatal feeding of tamoxifen (TAM) in Institute of Cancer Research/cryopreserved (ICR/CD-1) mouse. However, its underlying mechanism of action is unknown. To further delineate the mechanism of TAM-induced adenomyosis in ICR/CD-1 mouse with regard to specific estrogen receptor (ER), we conducted an experiment that neonatal mice were fed with either TAM, or 4,4′,4″-(4-propyl-[1H]-pyrazole-1,3,5-triyl) trisphenol (PPT; an ERα agonist), or 2,3-bis(4-hydroxyphenyl)-propionitrile (DPN; an ERβ agonist), or G-1 (a G-protein coupled receptor 30 agonist), or just vehicle, in an attempt to tease out which specific receptor plays a dominant role in the genesis of adenomyosis induced by neonatal feeding of TAM. Methods: Forty female neonatal mice were randomly divided into 5 equal-sized groups: CTL (control), TAM, PPT, DPN, and G-1. Three months later, all mice were sacrificed and their uterine horns were harvested, weighed, and processed for histological evaluation. Results: All mice in the TAM group developed adenomyosis, so did 4 mice (50%) in the DPN group, a result that should be considered significant given that mice in the CTL group would not develop adenomyosis. No mouse in the PPT or G-1 group developed adenomyosis. Remarkably, all lesions in the DPN group were seen exclusively near the uterine serosa, which are dramatically different from that of TAM mice and reminiscent of extrinsic or external adenomyosis in humans. Conclusions: Neonatal feeding of DPN induces adenomyosis, but the adenomyotic lesions appear to be different from those induced by TAM. Thus, the cause of TAM-induced adenomyosis in ICR/CD-1 mouse cannot be attributable to one specific ER alone. This suggests that the extrinsic/external adenomyosis may have a pathogenesis that is different from other sub-types of adenomyosis.","PeriodicalId":20959,"journal":{"name":"Reproductive and Developmental Medicine","volume":"6 1","pages":"144 - 151"},"PeriodicalIF":0.8,"publicationDate":"2022-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41919268","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}
Pub Date : 2022-07-12DOI: 10.1097/rd9.0000000000000033
Chenming Xu, Si‐Jia Lu, Song-chang Chen, Jing-lan Zhang, Cong-jian Xu, Yuan Gao, Yifei Shen, Yun-xia Cao, Ling-Qian Wu, F. Jin, G. Lin, Ping Liu, Yi Zhu, Yan-ting Wu, Dan Zhang, Bill Yee, V. Kushnir, Zhihong Yang, Jia-Yin Liu, Zi-Jiang Chen, A. Thornhill, A. Beltsos, J. Smitz, J. Frattarelli, A. Handyside, J. Qiao, He-feng Huang
The International Society of Reproductive Genetics (ISRG) assembled a workgroup made up of clinicians, clinical laboratory directors, and scientists for the purpose of creating the guidelines for preimplantation genetic testing (PGT). The most up-to-date information and clinical insights for the optimal PGT practice were incorporated in these guidelines. Recommendations are provided for embryologists, medical geneticists, clinical laboratorians, and other healthcare providers to improve the wellbeing of patients seeking assisted reproductive treatment and their offspring.
{"title":"Preimplantation Genetic Testing Guidelines of International Society of Reproductive Genetics","authors":"Chenming Xu, Si‐Jia Lu, Song-chang Chen, Jing-lan Zhang, Cong-jian Xu, Yuan Gao, Yifei Shen, Yun-xia Cao, Ling-Qian Wu, F. Jin, G. Lin, Ping Liu, Yi Zhu, Yan-ting Wu, Dan Zhang, Bill Yee, V. Kushnir, Zhihong Yang, Jia-Yin Liu, Zi-Jiang Chen, A. Thornhill, A. Beltsos, J. Smitz, J. Frattarelli, A. Handyside, J. Qiao, He-feng Huang","doi":"10.1097/rd9.0000000000000033","DOIUrl":"https://doi.org/10.1097/rd9.0000000000000033","url":null,"abstract":"The International Society of Reproductive Genetics (ISRG) assembled a workgroup made up of clinicians, clinical laboratory directors, and scientists for the purpose of creating the guidelines for preimplantation genetic testing (PGT). The most up-to-date information and clinical insights for the optimal PGT practice were incorporated in these guidelines. Recommendations are provided for embryologists, medical geneticists, clinical laboratorians, and other healthcare providers to improve the wellbeing of patients seeking assisted reproductive treatment and their offspring.","PeriodicalId":20959,"journal":{"name":"Reproductive and Developmental Medicine","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2022-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41614082","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}
Pub Date : 2022-07-12DOI: 10.1097/RD9.0000000000000029
Jian-Hua Li, Jian-Ye Wang, Tingting Jiao, Min Li, Yanjiao Wei, Ye Wang, Yan-Bin Cheng, Shui-wen Zhang, Shuang Tian, R. Chian
Objective: Collected human cumulus-oocyte complexes (COCs) are usually inseminated after 4 to 6 hours in in vitro fertilization (IVF) laboratories. The purpose of this study was to determine the effect of short-term pre-IVF incubation in culture medium on subsequent oocyte maturation, fertilization, and embryonic development, as well as clinical outcomes. Methods: Sixty patients were divided randomly into 2 groups, pre-IVF incubation for 5 hours: 1) with (+) the designed oocyte maturation medium; 2) without (−) the designed oocyte maturation medium (transferred directly to fertilization medium for 5 hours before insemination). Oocyte maturation and fertilization were assessed, and the rate of cleavage and good quality embryos were evaluated between the 2 groups on days 2 and 3, respectively. Blastocyst development was based on the remaining number of embryos on day 3, continuously cultured to day 5 after embryo transfer or frozen on day 3, and was compared between the 2 groups. Clinical pregnancy, implantation, and miscarriage rates were also compared. Results: Oocyte maturation rates did not differ between groups (85.8 ± 14.1% vs. 90.7 ± 9.1%). However, the range of oocyte maturation rates (58.3%–100.0%) for each patient was significantly higher in the (−) group than in the (+) pre-incubation group (71.4%–100.0%). There were no differences in fertilization rates (89.9 ± 10.0% vs. 86.5 ± 12.2%) and good quality embryos (70.8 ± 19.1% vs. 62.1 ± 23.7%) between groups; however, the blastocyst development rates were significantly different between groups (73.1 ± 20.1% vs. 58.8 ± 18.2%, P <0.05). Nevertheless, clinical pregnancy (62.5% vs. 61.1%) and implantation (46.9% vs. 47.2%) rates did not differ between groups. Conclusions: These results indicate that a short pre-IVF incubation time in the designed culture medium promotes oocyte maturation and embryonic development, suggesting that short pre-IVF incubation of COCs in the designed culture medium may be important for subsequent final oocyte maturation and early embryonic development.
{"title":"Effect of pre-IVF incubation in maturation medium on oocyte maturity, fertilization, embryonic development, and clinical outcomes following embryo transfer","authors":"Jian-Hua Li, Jian-Ye Wang, Tingting Jiao, Min Li, Yanjiao Wei, Ye Wang, Yan-Bin Cheng, Shui-wen Zhang, Shuang Tian, R. Chian","doi":"10.1097/RD9.0000000000000029","DOIUrl":"https://doi.org/10.1097/RD9.0000000000000029","url":null,"abstract":"Objective: Collected human cumulus-oocyte complexes (COCs) are usually inseminated after 4 to 6 hours in in vitro fertilization (IVF) laboratories. The purpose of this study was to determine the effect of short-term pre-IVF incubation in culture medium on subsequent oocyte maturation, fertilization, and embryonic development, as well as clinical outcomes. Methods: Sixty patients were divided randomly into 2 groups, pre-IVF incubation for 5 hours: 1) with (+) the designed oocyte maturation medium; 2) without (−) the designed oocyte maturation medium (transferred directly to fertilization medium for 5 hours before insemination). Oocyte maturation and fertilization were assessed, and the rate of cleavage and good quality embryos were evaluated between the 2 groups on days 2 and 3, respectively. Blastocyst development was based on the remaining number of embryos on day 3, continuously cultured to day 5 after embryo transfer or frozen on day 3, and was compared between the 2 groups. Clinical pregnancy, implantation, and miscarriage rates were also compared. Results: Oocyte maturation rates did not differ between groups (85.8 ± 14.1% vs. 90.7 ± 9.1%). However, the range of oocyte maturation rates (58.3%–100.0%) for each patient was significantly higher in the (−) group than in the (+) pre-incubation group (71.4%–100.0%). There were no differences in fertilization rates (89.9 ± 10.0% vs. 86.5 ± 12.2%) and good quality embryos (70.8 ± 19.1% vs. 62.1 ± 23.7%) between groups; however, the blastocyst development rates were significantly different between groups (73.1 ± 20.1% vs. 58.8 ± 18.2%, P <0.05). Nevertheless, clinical pregnancy (62.5% vs. 61.1%) and implantation (46.9% vs. 47.2%) rates did not differ between groups. Conclusions: These results indicate that a short pre-IVF incubation time in the designed culture medium promotes oocyte maturation and embryonic development, suggesting that short pre-IVF incubation of COCs in the designed culture medium may be important for subsequent final oocyte maturation and early embryonic development.","PeriodicalId":20959,"journal":{"name":"Reproductive and Developmental Medicine","volume":"6 1","pages":"162 - 168"},"PeriodicalIF":0.8,"publicationDate":"2022-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45362054","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}
Pub Date : 2022-07-12DOI: 10.1097/RD9.0000000000000035
Y. Wang, Bin Zhao, Xiaoyin Yuan
Objectives: Polycystic ovary syndrome (PCOS) is a common endocrine disease in women of childbearing age. Although it is a leading cause of menstrual disorders, infertility, obesity, and other diseases, its molecular mechanism remains unclear. This study aimed to analyze the target genes, pathways, and potential drugs for PCOS through text mining. Methods: First, three different keywords (“polycystic ovary syndrome”, “obesity/adiposis”, and “anovulation”) were uploaded to GenCLiP3 to obtain three different gene sets. We then chose the common genes among these gene sets. Second, we performed gene ontology and signal pathway enrichment analyses of these common genes, followed by protein–protein interaction (PPI) network analysis. Third, the most significant gene module clustered in the protein–protein network was selected to identify potential drugs for PCOS via gene–drug analysis. Results: A total of 4291 genes related to three different keywords were obtained through text mining, 72 common genes were filtered among the three gene sets, and 69 genes participated in PPI network construction, of which 23 genes were clustered in the gene modules. Finally, six of the 23 genes were targeted by 30 existing drugs. Conclusions: The discovery of the six genes (CYP19A1, ESR1, IGF1R, PGR, PTGS2, and VEGFA) and 30 targeted drugs, which are associated with ovarian steroidogenesis (P <0.001), may be used in potential therapeutic strategies for PCOS.
{"title":"Drug discovery and potential gene and pathway associated with polycystic ovary syndrome through text mining and biomedical databases","authors":"Y. Wang, Bin Zhao, Xiaoyin Yuan","doi":"10.1097/RD9.0000000000000035","DOIUrl":"https://doi.org/10.1097/RD9.0000000000000035","url":null,"abstract":"Objectives: Polycystic ovary syndrome (PCOS) is a common endocrine disease in women of childbearing age. Although it is a leading cause of menstrual disorders, infertility, obesity, and other diseases, its molecular mechanism remains unclear. This study aimed to analyze the target genes, pathways, and potential drugs for PCOS through text mining. Methods: First, three different keywords (“polycystic ovary syndrome”, “obesity/adiposis”, and “anovulation”) were uploaded to GenCLiP3 to obtain three different gene sets. We then chose the common genes among these gene sets. Second, we performed gene ontology and signal pathway enrichment analyses of these common genes, followed by protein–protein interaction (PPI) network analysis. Third, the most significant gene module clustered in the protein–protein network was selected to identify potential drugs for PCOS via gene–drug analysis. Results: A total of 4291 genes related to three different keywords were obtained through text mining, 72 common genes were filtered among the three gene sets, and 69 genes participated in PPI network construction, of which 23 genes were clustered in the gene modules. Finally, six of the 23 genes were targeted by 30 existing drugs. Conclusions: The discovery of the six genes (CYP19A1, ESR1, IGF1R, PGR, PTGS2, and VEGFA) and 30 targeted drugs, which are associated with ovarian steroidogenesis (P <0.001), may be used in potential therapeutic strategies for PCOS.","PeriodicalId":20959,"journal":{"name":"Reproductive and Developmental Medicine","volume":"7 1","pages":"44 - 49"},"PeriodicalIF":0.8,"publicationDate":"2022-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42029513","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}
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