Pub Date : 2022-11-14DOI: 10.1097/RD9.0000000000000056
Yao Tang, Zhen-Zhen Liu, Hai-yan Liu, Cheng-jie Wang, J. Pei, Nan Chu, T. Peng, Xiao-tian Li, W. Gu
Objective: Long non-coding RNAs (lncRNAs) are implicated in multiple pathophysiological processes in placenta-related disorders; however, their expression and function in late-onset pre-eclampsia (LOPE) remain unclear. This study aimed to investigate the expression of lncRNAs in LOPE, construct a competing endogenous RNA (ceRNA) network, and identify the pathways associated with LOPE pathogenesis. Methods: We performed lncRNA and mRNAs microarray profiling to identify the differential expression profiles of lncRNAs and mRNAs in LOPE compared to those in normal pregnancy. Quantitative reverse transcription polymerase chain reaction (qRT-PCR) was performed to validate differentially expressed genes. Subsequently, we generated an interaction network between lncRNAs, (micro-RNAs) miRNAs, and mRNAs based on the Pearson’s correlation coefficient between lncRNAs and mRNAs. Gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analyses were performed to understand the functional significance of differentially expressed lncRNAs (DElncRNAs) in LOPE. Results: We identified 29 DElncRNAs (25 upregulated and four downregulated) and 212 differentially expressed mRNAs (DEmRNAs; 203 upregulated and nine downregulated) in LOPE placentas. Within them, six lncRNAs and four mRNAs were verified by qRT-PCR. GO and KEGG analyses revealed the potential pathways affected by these mRNAs, such as positive regulation of leukocyte chemotaxis, chemokine signaling pathway, and response to hypoxia. Finally, we constructed a ceRNA network including three DElncRNAs and 124 DEmRNAs, whose competing interactions may be mediated by 17 miRNAs. Two DElncRNAs, ENST00000515376 and ENST00000520544, were found to be hub genes, as they interacted with most miRNAs and mRNAs. ENST00000515376 is most likely related to the metabolic process of arachidonic acid, whereas ENST00000520544 is more likely related to the coagulation system, such as the regulation of blood coagulation and platelet degranulation. Conclusion: Differential expression profile of lncRNAs and the lncRNA-miRNA-mRNA network in LOPE provide potential therapeutic targets for this disease.
{"title":"Identification of lncRNA-miRNA-mRNA networks in late-onset pre-eclampsia","authors":"Yao Tang, Zhen-Zhen Liu, Hai-yan Liu, Cheng-jie Wang, J. Pei, Nan Chu, T. Peng, Xiao-tian Li, W. Gu","doi":"10.1097/RD9.0000000000000056","DOIUrl":"https://doi.org/10.1097/RD9.0000000000000056","url":null,"abstract":"Objective: Long non-coding RNAs (lncRNAs) are implicated in multiple pathophysiological processes in placenta-related disorders; however, their expression and function in late-onset pre-eclampsia (LOPE) remain unclear. This study aimed to investigate the expression of lncRNAs in LOPE, construct a competing endogenous RNA (ceRNA) network, and identify the pathways associated with LOPE pathogenesis. Methods: We performed lncRNA and mRNAs microarray profiling to identify the differential expression profiles of lncRNAs and mRNAs in LOPE compared to those in normal pregnancy. Quantitative reverse transcription polymerase chain reaction (qRT-PCR) was performed to validate differentially expressed genes. Subsequently, we generated an interaction network between lncRNAs, (micro-RNAs) miRNAs, and mRNAs based on the Pearson’s correlation coefficient between lncRNAs and mRNAs. Gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analyses were performed to understand the functional significance of differentially expressed lncRNAs (DElncRNAs) in LOPE. Results: We identified 29 DElncRNAs (25 upregulated and four downregulated) and 212 differentially expressed mRNAs (DEmRNAs; 203 upregulated and nine downregulated) in LOPE placentas. Within them, six lncRNAs and four mRNAs were verified by qRT-PCR. GO and KEGG analyses revealed the potential pathways affected by these mRNAs, such as positive regulation of leukocyte chemotaxis, chemokine signaling pathway, and response to hypoxia. Finally, we constructed a ceRNA network including three DElncRNAs and 124 DEmRNAs, whose competing interactions may be mediated by 17 miRNAs. Two DElncRNAs, ENST00000515376 and ENST00000520544, were found to be hub genes, as they interacted with most miRNAs and mRNAs. ENST00000515376 is most likely related to the metabolic process of arachidonic acid, whereas ENST00000520544 is more likely related to the coagulation system, such as the regulation of blood coagulation and platelet degranulation. Conclusion: Differential expression profile of lncRNAs and the lncRNA-miRNA-mRNA network in LOPE provide potential therapeutic targets for this disease.","PeriodicalId":20959,"journal":{"name":"Reproductive and Developmental Medicine","volume":"7 1","pages":"68 - 74"},"PeriodicalIF":0.8,"publicationDate":"2022-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45810936","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 : 2022-11-14DOI: 10.1097/RD9.0000000000000055
Y. Wang, Xiaoyin Yuan, Bin Zhao
Objective: Polycystic ovary syndrome (PCOS) is an endocrine disorder with diverse clinical manifestations that often occurs in women of childbearing age. However, its molecular pathogenesis remains unclear, and this study aimed to identify miRNA targets in PCOS through text mining and database analysis. Methods: First, three different sets of text mining genes (TMGs) associated with “polycystic ovary syndrome”, “obesity/adiposis”, and “anovulation” keywords were retrieved from the GenCLiP3 database, and overlapping genes were selected. Second, Gene ontology annotation and biological pathway enrichment analyses of these overlapping TMGs were performed, followed by protein–protein interaction (PPI) network analysis. Third, genes in the gene module clustered in the PPI were selected to predict potential miRNAs for PCOS via miRNA-mRNA analysis. Results: A total of 4291 TMGs related to three different keywords were obtained through text mining; 72 intersect TMGs were retained among the three gene sets, and 62 TMGs participated in the establishment of the PPI network, of which 18 were aggregated in the gene module. Finally, 11 miRNAs that simultaneously bound to two TMGs (IGF1, ESR1, MAPK1, NAMPT, PIK3CA, and SERPINE1) could be prioritized as targets to study PCOS. Conclusion(s): The discovery of 11 miRNAs (miR-301a-3p, miR-301b-3p, miR-3666, miR-454-3p, miR-130a-3p, miR-130b-3p, miR-4295, miR-190a-3p, miR-5011-5p, miR-548c-3p, and miR-4799-5p) and 6 TMGs, which are associated with the HIF-1 signaling pathway (P = 4.799E-08), could be used as potential targets for PCOS.
{"title":"Identifying miRNA biomarkers of polycystic ovary syndrome through text mining","authors":"Y. Wang, Xiaoyin Yuan, Bin Zhao","doi":"10.1097/RD9.0000000000000055","DOIUrl":"https://doi.org/10.1097/RD9.0000000000000055","url":null,"abstract":"Objective: Polycystic ovary syndrome (PCOS) is an endocrine disorder with diverse clinical manifestations that often occurs in women of childbearing age. However, its molecular pathogenesis remains unclear, and this study aimed to identify miRNA targets in PCOS through text mining and database analysis. Methods: First, three different sets of text mining genes (TMGs) associated with “polycystic ovary syndrome”, “obesity/adiposis”, and “anovulation” keywords were retrieved from the GenCLiP3 database, and overlapping genes were selected. Second, Gene ontology annotation and biological pathway enrichment analyses of these overlapping TMGs were performed, followed by protein–protein interaction (PPI) network analysis. Third, genes in the gene module clustered in the PPI were selected to predict potential miRNAs for PCOS via miRNA-mRNA analysis. Results: A total of 4291 TMGs related to three different keywords were obtained through text mining; 72 intersect TMGs were retained among the three gene sets, and 62 TMGs participated in the establishment of the PPI network, of which 18 were aggregated in the gene module. Finally, 11 miRNAs that simultaneously bound to two TMGs (IGF1, ESR1, MAPK1, NAMPT, PIK3CA, and SERPINE1) could be prioritized as targets to study PCOS. Conclusion(s): The discovery of 11 miRNAs (miR-301a-3p, miR-301b-3p, miR-3666, miR-454-3p, miR-130a-3p, miR-130b-3p, miR-4295, miR-190a-3p, miR-5011-5p, miR-548c-3p, and miR-4799-5p) and 6 TMGs, which are associated with the HIF-1 signaling pathway (P = 4.799E-08), could be used as potential targets for PCOS.","PeriodicalId":20959,"journal":{"name":"Reproductive and Developmental Medicine","volume":"7 1","pages":"96 - 101"},"PeriodicalIF":0.8,"publicationDate":"2022-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42468281","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: Testosterone deficiency may be a risk factor for lower urinary tract symptoms (LUTS), and there may be a causal link between the emergence of LUTS and the incidence of late-onset hypogonadism (LOH). We performed an epidemiologic study to investigate the association between symptomatic late-onset hypogonadism (SLOH) and LUTS in middle-aged and elderly rural Chinese males. Methods: A total of 965 men completed a questionnaire and underwent a detailed physical examination. The Aging Males’ Symptoms (AMS) scale was used to assess SLOH, and the International Prostate Symptom Score (IPSS) questionnaire was used to assess LUTS. Serum reproductive hormone levels of testosterone, sex hormone-binding globulin (SHBG) and luteinizing hormone (LH) were measured. Results: A total of 965 males (mean age: 56.34 ± 8.85, range: 40–80 years) were recruited for the present study. A total of 20.93% (202/965) were diagnosed with SLOH. A total of 93.16% (899/965) had mild LUTS, 5.18% (50/965) had moderate LUTS, and 1.66% (16/965) had severe LUTS. Among SLOH patients, 13.40% (27/202) and 3.90% (8/202) had moderate and severe LUTS, respectively. Patients with severe LUTS had increased SHBG and LH compared with those with mild and moderate LUTS (P <0.01). Correlation analysis revealed that the AMS total score was positively correlated with the IPSS score (P <0.05). The prevalence of SLOH was significantly increased with LUTS severity. In addition to the known effect of age, the results of multiple regression analysis also showed that serum LH or SHBG appeared to have a weak link with SLOH and LUTS that requires etiological and biological clarification in our future study. Conclusion: In this cross-sectional analysis of SLOH and LUTS, LUTS severity was significantly associated with hypogonadism symptoms. Additionally, the prevalence of SLOH advanced with increasing LUTS severity. Serum SHBG or LH showed a positive correlation with SLOH and LUTS.
{"title":"Association of symptomatic late-onset hypogonadism and lower urinary tract symptoms in aging males: a community-based study","authors":"Guoqing Liang, Jian-Hui Li, H. Shi, Junbiao Zheng, Xiaohua Yu, Shucheng Zhang, Zheng Li, Qian-xi Zhu, Yuxuan Song, Feng Jiang, Yong Zhu","doi":"10.1097/RD9.0000000000000054","DOIUrl":"https://doi.org/10.1097/RD9.0000000000000054","url":null,"abstract":"Objective: Testosterone deficiency may be a risk factor for lower urinary tract symptoms (LUTS), and there may be a causal link between the emergence of LUTS and the incidence of late-onset hypogonadism (LOH). We performed an epidemiologic study to investigate the association between symptomatic late-onset hypogonadism (SLOH) and LUTS in middle-aged and elderly rural Chinese males. Methods: A total of 965 men completed a questionnaire and underwent a detailed physical examination. The Aging Males’ Symptoms (AMS) scale was used to assess SLOH, and the International Prostate Symptom Score (IPSS) questionnaire was used to assess LUTS. Serum reproductive hormone levels of testosterone, sex hormone-binding globulin (SHBG) and luteinizing hormone (LH) were measured. Results: A total of 965 males (mean age: 56.34 ± 8.85, range: 40–80 years) were recruited for the present study. A total of 20.93% (202/965) were diagnosed with SLOH. A total of 93.16% (899/965) had mild LUTS, 5.18% (50/965) had moderate LUTS, and 1.66% (16/965) had severe LUTS. Among SLOH patients, 13.40% (27/202) and 3.90% (8/202) had moderate and severe LUTS, respectively. Patients with severe LUTS had increased SHBG and LH compared with those with mild and moderate LUTS (P <0.01). Correlation analysis revealed that the AMS total score was positively correlated with the IPSS score (P <0.05). The prevalence of SLOH was significantly increased with LUTS severity. In addition to the known effect of age, the results of multiple regression analysis also showed that serum LH or SHBG appeared to have a weak link with SLOH and LUTS that requires etiological and biological clarification in our future study. Conclusion: In this cross-sectional analysis of SLOH and LUTS, LUTS severity was significantly associated with hypogonadism symptoms. Additionally, the prevalence of SLOH advanced with increasing LUTS severity. Serum SHBG or LH showed a positive correlation with SLOH and LUTS.","PeriodicalId":20959,"journal":{"name":"Reproductive and Developmental Medicine","volume":"7 1","pages":"129 - 134"},"PeriodicalIF":0.8,"publicationDate":"2022-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42710208","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 : 2022-10-27DOI: 10.1097/RD9.0000000000000047
Xian-Li Wang, Jing Tang
Objective: Hydrogen sulfide (H2S) has been elucidated that it promotes migration and invasion in human placenta trophoblasts. However, the signaling pathway underlying H2S-based regulation of trophoblasts remains unknown. Hence, we investigated the potential effect of sodium hydrosulfide (NaHS), an exogenous H2S donor, on extravillous trophoblasts. Methods: The Cell Counting Kit-8 was used to detect the proliferative activity of trophoblasts and to screen the optimal concentration of NaHS. The migration and invasion of HTR8/SVneo cells were measured by Transwell assays. Gene expression was determined by quantitative real-time PCR analysis. Protein expression was determined by western blot. Results: We found that NaHS could promote the proliferation, migration, and invasion of HTR8/SVneo cells. The phosphorylation of focal adhesion kinase (FAK), Src, and extracellular signal-regulated kinase (ERK) were activated by NaHS. Moreover, NaHS also upregulated the expression of matrix metalloproteinase-2 (MMP-2) and MMP-9, downregulated the expression of E-cadherin in HTR8/SVneo cells. The application of NaHS could increase the expression of cystathionine-β-synthase. Conclusion: Both FAK–Src signaling and the upstream signaling cascade of ERK activation play a significant important role in NaHS-induced proliferation, migration, and invasion via upregulating activity of MMP-2, MMP-9, and downregulating E-cadherin in HTR8/SVneo cells. These novel findings may provide a strong foundation for the clinical application of H2S donor drugs.
{"title":"Focal adhesion kinase signaling is necessary for the hydrogen sulfide-enhanced proliferation, migration, and invasion of HTR8/SVneo human trophoblasts","authors":"Xian-Li Wang, Jing Tang","doi":"10.1097/RD9.0000000000000047","DOIUrl":"https://doi.org/10.1097/RD9.0000000000000047","url":null,"abstract":"Objective: Hydrogen sulfide (H2S) has been elucidated that it promotes migration and invasion in human placenta trophoblasts. However, the signaling pathway underlying H2S-based regulation of trophoblasts remains unknown. Hence, we investigated the potential effect of sodium hydrosulfide (NaHS), an exogenous H2S donor, on extravillous trophoblasts. Methods: The Cell Counting Kit-8 was used to detect the proliferative activity of trophoblasts and to screen the optimal concentration of NaHS. The migration and invasion of HTR8/SVneo cells were measured by Transwell assays. Gene expression was determined by quantitative real-time PCR analysis. Protein expression was determined by western blot. Results: We found that NaHS could promote the proliferation, migration, and invasion of HTR8/SVneo cells. The phosphorylation of focal adhesion kinase (FAK), Src, and extracellular signal-regulated kinase (ERK) were activated by NaHS. Moreover, NaHS also upregulated the expression of matrix metalloproteinase-2 (MMP-2) and MMP-9, downregulated the expression of E-cadherin in HTR8/SVneo cells. The application of NaHS could increase the expression of cystathionine-β-synthase. Conclusion: Both FAK–Src signaling and the upstream signaling cascade of ERK activation play a significant important role in NaHS-induced proliferation, migration, and invasion via upregulating activity of MMP-2, MMP-9, and downregulating E-cadherin in HTR8/SVneo cells. These novel findings may provide a strong foundation for the clinical application of H2S donor drugs.","PeriodicalId":20959,"journal":{"name":"Reproductive and Developmental Medicine","volume":"7 1","pages":"75 - 82"},"PeriodicalIF":0.8,"publicationDate":"2022-10-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49548509","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 : 2022-10-27DOI: 10.1097/RD9.0000000000000044
M. Anter, Nasser Abd El-Aal, M. Rezk, Hussein Fahmy Moawad, A. Abudakika
Objectives: The objective of this study is to assess the impact of coronavirus disease 2019 (COVID-19) infection during pregnancy on maternal and fetal outcome in relation to gestational age. Methods: This retrospective study was conducted between May 2020 and July 2021. Sixty-five women infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and hospitalized at a quarantine hospital were included. Thirty-four women received prenatal care at the hospital until delivery, while 31 dropped out from the study due to COVID-19 recovery and discharge before delivery. Results: COVID-19 was found in 83% of the pregnant women after 20 weeks of pregnancy. The most common symptoms were cough and fever. Medical complications included severe pneumonia and thrombosis. The maternal mortality rate was 9.2%. Premature rupture of membranes and severe hypertension during labor affected nearly 9% of the pregnant women who completed prenatal care until delivery at the hospital. Preterm labor occurred at a rate of 38.2%. There were seven (20.8%) stillbirths and two cases of infant mortality. Conclusion: Hospitalized pregnant women who have coronavirus infection, lymphopenia, and a high C-reactive protein level were at a higher risk of developing severe illness, which can lead to maternal and neonatal complications.
{"title":"Impact of COVID-19 infection during pregnancy on maternal and fetal outcomes","authors":"M. Anter, Nasser Abd El-Aal, M. Rezk, Hussein Fahmy Moawad, A. Abudakika","doi":"10.1097/RD9.0000000000000044","DOIUrl":"https://doi.org/10.1097/RD9.0000000000000044","url":null,"abstract":"Objectives: The objective of this study is to assess the impact of coronavirus disease 2019 (COVID-19) infection during pregnancy on maternal and fetal outcome in relation to gestational age. Methods: This retrospective study was conducted between May 2020 and July 2021. Sixty-five women infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and hospitalized at a quarantine hospital were included. Thirty-four women received prenatal care at the hospital until delivery, while 31 dropped out from the study due to COVID-19 recovery and discharge before delivery. Results: COVID-19 was found in 83% of the pregnant women after 20 weeks of pregnancy. The most common symptoms were cough and fever. Medical complications included severe pneumonia and thrombosis. The maternal mortality rate was 9.2%. Premature rupture of membranes and severe hypertension during labor affected nearly 9% of the pregnant women who completed prenatal care until delivery at the hospital. Preterm labor occurred at a rate of 38.2%. There were seven (20.8%) stillbirths and two cases of infant mortality. Conclusion: Hospitalized pregnant women who have coronavirus infection, lymphopenia, and a high C-reactive protein level were at a higher risk of developing severe illness, which can lead to maternal and neonatal complications.","PeriodicalId":20959,"journal":{"name":"Reproductive and Developmental Medicine","volume":"7 1","pages":"108 - 114"},"PeriodicalIF":0.8,"publicationDate":"2022-10-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45230069","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 : 2022-10-27DOI: 10.1097/RD9.0000000000000049
Ren-Qian Du, D. Zhao, Kai Kang, Fan Wang, R. Xu, Chun-Li Chi, L. Kong, B. Liang
The first practice of pre-implantation genetic testing (PGT) was reported more than 30 years ago. PGT, originally named pre-implantation genetic screening (PGS) and pre-implantation genetic diagnosis (PGD), is now categorized as PGT for aneuploidies (PGT-A), PGT for monogenic/single-gene defects (PGT-M), and PGT for chromosomal structural rearrangements (PGT-SR). Patients with fertility issues caused by advanced maternal age, carrier status of chromosomal abnormalities, or harboring pathogenic variant(s) are recommended to undergo PGT to increase the possibility of successful live birth and avoid potentially affected newborns. High-throughput techniques, such as DNA microarrays and next-generation sequencing (NGS), have enabled comprehensive screening of all 24 chromosomes, instead of few loci at a time. Furthermore, as a comprehensive PGT, PGT-Plus was enabled by the rapid development of a genome-wide single-cell haplotyping technique to detect embryo aneuploidy, single-gene disorders, and chromosomal aberrations simultaneously using a single universal protocol. In addition, non-invasive approaches enable a more intact embryo during the biopsy procedure, which may avoid potential mosaicism issues at a certain scale by testing spent culture media (SCM). As a novel PGT application, PGT-P detects genome-wide variations in polygenic diseases, which account for a large proportion of premature human deaths and affect a markedly larger population than monogenic diseases, using polygenic risk score calculation to decrease the potential of affecting complex conditions. Owing to the emergence of new technologies recruited to PGTs, more couples with infertility issues have a promising chance of conceiving a healthy baby, ultimately facilitating the human species to live more prosper.
{"title":"A review of pre-implantation genetic testing technologies and applications","authors":"Ren-Qian Du, D. Zhao, Kai Kang, Fan Wang, R. Xu, Chun-Li Chi, L. Kong, B. Liang","doi":"10.1097/RD9.0000000000000049","DOIUrl":"https://doi.org/10.1097/RD9.0000000000000049","url":null,"abstract":"The first practice of pre-implantation genetic testing (PGT) was reported more than 30 years ago. PGT, originally named pre-implantation genetic screening (PGS) and pre-implantation genetic diagnosis (PGD), is now categorized as PGT for aneuploidies (PGT-A), PGT for monogenic/single-gene defects (PGT-M), and PGT for chromosomal structural rearrangements (PGT-SR). Patients with fertility issues caused by advanced maternal age, carrier status of chromosomal abnormalities, or harboring pathogenic variant(s) are recommended to undergo PGT to increase the possibility of successful live birth and avoid potentially affected newborns. High-throughput techniques, such as DNA microarrays and next-generation sequencing (NGS), have enabled comprehensive screening of all 24 chromosomes, instead of few loci at a time. Furthermore, as a comprehensive PGT, PGT-Plus was enabled by the rapid development of a genome-wide single-cell haplotyping technique to detect embryo aneuploidy, single-gene disorders, and chromosomal aberrations simultaneously using a single universal protocol. In addition, non-invasive approaches enable a more intact embryo during the biopsy procedure, which may avoid potential mosaicism issues at a certain scale by testing spent culture media (SCM). As a novel PGT application, PGT-P detects genome-wide variations in polygenic diseases, which account for a large proportion of premature human deaths and affect a markedly larger population than monogenic diseases, using polygenic risk score calculation to decrease the potential of affecting complex conditions. Owing to the emergence of new technologies recruited to PGTs, more couples with infertility issues have a promising chance of conceiving a healthy baby, ultimately facilitating the human species to live more prosper.","PeriodicalId":20959,"journal":{"name":"Reproductive and Developmental Medicine","volume":"7 1","pages":"20 - 31"},"PeriodicalIF":0.8,"publicationDate":"2022-10-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48336743","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 : 2022-10-27DOI: 10.1097/RD9.0000000000000048
Rui Peng, Lei Lu, Bing-Kun Lei, Hong-Yan Wang, Xiao-ying Yao
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.
{"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}
Pub Date : 2022-10-25DOI: 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
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.
{"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}
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.
{"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}
Pub Date : 2022-09-21DOI: 10.1097/RD9.0000000000000038
R. Chan, Tian-Qi Li, Sisi Zhang, Yuan Fang, Jingxuan Xu
Human endometrium is a unique adult tissue that undergoes cyclical shedding, repair, and regeneration during a woman’s reproductive life. Over the past 2 decades, tremendous progress has been made towards the identification and characterization of endometrial stromal stem/progenitor cells . The substantial regeneration of vascularized stroma in the endometrium during the proliferative stages of each menstrual cycle is likely to be mediated by endometrial mesenchymal stromal/stem cells. This review focuses on the perivascular niche for CD140b+CD146+ pericytes and SUSD2+ perivascular cells. The identity, characteristics, and underlying mechanisms of uterine regeneration are also discussed.
{"title":"The perivascular niche of endometrial mesenchymal stromal/stem-like cells","authors":"R. Chan, Tian-Qi Li, Sisi Zhang, Yuan Fang, Jingxuan Xu","doi":"10.1097/RD9.0000000000000038","DOIUrl":"https://doi.org/10.1097/RD9.0000000000000038","url":null,"abstract":"Human endometrium is a unique adult tissue that undergoes cyclical shedding, repair, and regeneration during a woman’s reproductive life. Over the past 2 decades, tremendous progress has been made towards the identification and characterization of endometrial stromal stem/progenitor cells . The substantial regeneration of vascularized stroma in the endometrium during the proliferative stages of each menstrual cycle is likely to be mediated by endometrial mesenchymal stromal/stem cells. This review focuses on the perivascular niche for CD140b+CD146+ pericytes and SUSD2+ perivascular cells. The identity, characteristics, and underlying mechanisms of uterine regeneration are also discussed.","PeriodicalId":20959,"journal":{"name":"Reproductive and Developmental Medicine","volume":"6 1","pages":"208 - 214"},"PeriodicalIF":0.8,"publicationDate":"2022-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44219574","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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