Reproductive Sciences最新文献

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The Association Between Annexin A5 c.-302G > T Variant and the Risk of Recurrent Pregnancy Loss: Systematic Review and Meta-analysis. 膜联蛋白A5 c.-302G > T变异与复发性流产风险的关系:系统回顾和荟萃分析
IF 2.6 3区 医学
Reproductive Sciences Pub Date : 2025-06-01 Epub Date: 2025-03-28 DOI: 10.1007/s43032-025-01848-0
Jintuo Zhou, Yanting Zhu, Ying Liu, Hairong Zhan, Peiguang Niu, Huajiao Chen, Jinhua Zhang
{"title":"The Association Between Annexin A5 c.-302G > T Variant and the Risk of Recurrent Pregnancy Loss: Systematic Review and Meta-analysis.","authors":"Jintuo Zhou, Yanting Zhu, Ying Liu, Hairong Zhan, Peiguang Niu, Huajiao Chen, Jinhua Zhang","doi":"10.1007/s43032-025-01848-0","DOIUrl":"10.1007/s43032-025-01848-0","url":null,"abstract":"<p><p>This study aimed to conduct a comprehensive meta-analysis of the relationship between Annexin A5 (ANXA5) c.-302G > T variant and susceptibility to recurrent pregnancy loss (RPL). We conducted a comprehensive systematic search of the literature published before June 17, 2023 using PubMed, Embase, Web of Science, and Cochrane Library. The Newcastle-Ottawa Scale (NOS) was used to evaluate the quality of the included studies. The odds ratio was used to estimate the correlation of the ANXA5 c.-302 T > G genetic alteration with RPL susceptibility. The I squared (I<sup>2</sup>) statistic and Q statistic were used to assess the heterogeneity among the included studies. And Begg's test and Egger's regression were then conducted to evaluate publication bias. In this meta-analysis, we included seven studies comprising 1535 RPL cases and 1328 healthy pregnant women to investigate the relationship between ANXA5 c.-302G > T variants and the susceptibility of RPL. No significant publication bias was detected across different comparison models. In the overall population analysis, the ANXA5 c.-302G > T variant was positively associated with the risk of RPL under the dominant, allelic, heterozygote and homozygous models. Meta-regression analysis was performed to identify the potential source of heterogeneity, revealing that neither publication year nor country contributed to heterogeneity. Our findings provided robust evidence that the ANXA5 c.-302G > T variant was significantly associated with an increased risk of RPL, highlighting its potential as a genetic marker for identifying women at high risk of developing RPL. These results emphasized the importance of genetic screening in improving the understanding and clinical management of RPL.</p>","PeriodicalId":20920,"journal":{"name":"Reproductive Sciences","volume":" ","pages":"2019-2026"},"PeriodicalIF":2.6,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143736200","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Identification of the novel homozygous whole exon deletion in MEI1 underlying azoospermia and embryonic arrest in one consanguineous family. 一个近亲家族无精子症和胚胎骤停的新纯合MEI1全外显子缺失的鉴定。
IF 2.6 3区 医学
Reproductive Sciences Pub Date : 2025-06-01 Epub Date: 2025-03-31 DOI: 10.1007/s43032-025-01851-5
Bei Liu, Keya Tong, Yang Gao, Yi Chen, Yifan Wang, Jiaqiang Wang, Jingyu Li, Liwei Sun
{"title":"Identification of the novel homozygous whole exon deletion in MEI1 underlying azoospermia and embryonic arrest in one consanguineous family.","authors":"Bei Liu, Keya Tong, Yang Gao, Yi Chen, Yifan Wang, Jiaqiang Wang, Jingyu Li, Liwei Sun","doi":"10.1007/s43032-025-01851-5","DOIUrl":"10.1007/s43032-025-01851-5","url":null,"abstract":"<p><p>This study characterized a male infertile patient suffering from azoospermia and a female infertile patient with embryonic arrest from one consanguineous family. We aimed to elucidate the novel pathogenic mechanism and provide support for the genetic diagnosis of infertility. Mutations were detected by whole-exome sequencing (WES) and confirmed by Sanger sequencing. Effect of the mutations on mRNA level was investigated by sequencing the cDNA amplification product. Functional characterization of the mutations was investigated through transfection in HEK293T cells in vitro, and the subcellular localization and protein levels were evaluated by immunofluorescence and western blot. Preimplantation genetic testing was performed to analyze chromosomal anomalies of the arrested embryos. The novel homozygous whole exon deletion of exon 19 in MEI1 was detected by WES. Amplification and sequencing of the cDNA verified the deletion of whole exon of MEI1. Quantitative expression revealed that the deletion result in almost no detectable expression of MEI1 Exon 19 in patients, and their mother is a heterozygous carrier of this whole exon deletion. Western blotting revealed that the whole exon deletion in MEI1 result in production of truncated MEI1 protein, corresponding to the predicted premature termination at Exon 20 of MEI1. Highly chromosomal anomalies were revealed in arrested embryos with MEI1 mutation. Overall, this study reported the first exon rearrangement of MEI1, thus broadening the mutational pattern and spectrum of MEI1-associated infertility, and also revealed the aneuploidies of embryos with MEI1 mutation as a potential reason for declined developmental potency and embryonic arrest.</p>","PeriodicalId":20920,"journal":{"name":"Reproductive Sciences","volume":" ","pages":"1968-1978"},"PeriodicalIF":2.6,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143754370","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Decreased FTO Expression Promotes Ovarian Granulosa Cells Aging. FTO表达降低促进卵巢颗粒细胞衰老。
IF 2.6 3区 医学
Reproductive Sciences Pub Date : 2025-06-01 Epub Date: 2025-05-08 DOI: 10.1007/s43032-025-01873-z
Jia Ying, Xuehong Zhang, Xiaoyan Sun, Qingxia Meng
{"title":"Decreased FTO Expression Promotes Ovarian Granulosa Cells Aging.","authors":"Jia Ying, Xuehong Zhang, Xiaoyan Sun, Qingxia Meng","doi":"10.1007/s43032-025-01873-z","DOIUrl":"10.1007/s43032-025-01873-z","url":null,"abstract":"<p><p>This study aimed to investigate the role of fat mass and obesity-associated protein (FTO), an N6-methyladenosine (m<sup>6</sup>A) demethylase, in ovarian aging by examining the effects of FTO downregulation on key biological processes in human ovarian granulosa cells (KGN), including proliferation, apoptosis regulation, senescence, and steroidogenic function. Stable FTO knockdown in KGN cells was achieved using lentivirus, complemented by modeling premature senescence with H<sub>2</sub>O<sub>2</sub> treatment. The biological functions, such as cell proliferation, apoptosis, aging, and sex hormone secretion, were assessed using RT-qPCR, WB, EdU staining, and ELISA, respectively. Silencing FTO significantly inhibited the proliferation of KGN cells, promoted apoptosis and senescence, and disrupted their endocrine function. These effects were consistent in the H<sub>2</sub>O<sub>2</sub>-induced senescence model. Our findings identify FTO as a critical regulator of ovarian homeostasis. Depletion of FTO impairs granulosa cell viability, accelerates senescence-related functional decline, and diminishes steroidogenic capacity through m<sup>6</sup>A-mediated modulation of key biosynthetic enzymes. These insights highlight FTO as a potential therapeutic target for age-related ovarian dysfunction.</p>","PeriodicalId":20920,"journal":{"name":"Reproductive Sciences","volume":" ","pages":"1987-1997"},"PeriodicalIF":2.6,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144053878","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Assessing Tocolytic Potency: Variability and Accuracy of AUC Versus Amplitude-Based Assessment of Pregnant Human Myometrial Contractions Ex Vivo. 评估抗缩效力:AUC的可变性和准确性与基于振幅的评估孕妇子宫肌收缩离体。
IF 2.6 3区 医学
Reproductive Sciences Pub Date : 2025-06-01 Epub Date: 2025-04-24 DOI: 10.1007/s43032-025-01864-0
Md Reduanul Hossain, Marina Paul, Jorge M Tolosa, Roger Smith, Jonathan W Paul
{"title":"Assessing Tocolytic Potency: Variability and Accuracy of AUC Versus Amplitude-Based Assessment of Pregnant Human Myometrial Contractions Ex Vivo.","authors":"Md Reduanul Hossain, Marina Paul, Jorge M Tolosa, Roger Smith, Jonathan W Paul","doi":"10.1007/s43032-025-01864-0","DOIUrl":"10.1007/s43032-025-01864-0","url":null,"abstract":"&lt;p&gt;&lt;p&gt;The methodological approaches used to evaluate the inhibitory effects (potency determination) of tocolytic agents on human uterine contractions in ex vivo systems vary, and none of the methodologies has been subjected to scrutiny in terms of objectivity, variability, and reliability. Therefore, this study aimed to assess and compare the reliability of using area under the curve (AUC) versus amplitude alone-based assessment of contraction traces to generate concentration-response curves, which were then used to calculate the tocolytic concentrations that inhibited 25% (IC&lt;sub&gt;25&lt;/sub&gt;) and 50% (IC&lt;sub&gt;50&lt;/sub&gt;) of baseline contractility. The accuracy of the determined inhibitory concentrations (IC) was then scrutinized while taking into consideration the contraction parameters (amplitude, frequency, duration) affected by the different tocolytics. To do this, pregnant human myometrial strips (term, not-in-labor) were treated with cumulative concentrations of the contraction-blocking agents, nifedipine (NIF), indomethacin (IND), 2-aminoethoxydiphenyl borate (2-APB), glycyl-h-1152 (GH), aminophylline (AMP), or rolipram (ROL)). Concentration-response curves were generated using either AUC or amplitude alone as the index of contraction inhibition, from which tocolytic IC&lt;sub&gt;25&lt;/sub&gt; and IC&lt;sub&gt;50&lt;/sub&gt; concentrations were calculated and compared (i.e. IC&lt;sub&gt;25(AUC)&lt;/sub&gt; vs. IC&lt;sub&gt;25(Amplitude)&lt;/sub&gt;). The effects of each tocolytic on contraction frequency were also quantified. To assess accuracy, each tocolytic was applied to contracting strips as a single treatment at their respective IC&lt;sub&gt;25(AUC/Amplitude)&lt;/sub&gt; and IC&lt;sub&gt;50(AUC/Amplitude)&lt;/sub&gt;, and then the inhibitory effect re-quantified against both contraction AUC and amplitude alone. Significant differences between IC&lt;sub&gt;50(AUC)&lt;/sub&gt; and IC&lt;sub&gt;50(Amplitude)&lt;/sub&gt; were detected for AMP (318.5 vs. 450 µM), ROL (4.3 vs. 55 µM), and IND (59.5 vs. 75 µM), whereas AUC versus amplitude-based IC&lt;sub&gt;50&lt;/sub&gt; concentrations were comparable for NIF (10 vs. 10 nM), GH (18.2 vs. 15 µM), and 2-APB (53 vs. 57 µM). Similarly, the determined IC&lt;sub&gt;25(AUC)&lt;/sub&gt; and IC&lt;sub&gt;25(Amplitude)&lt;/sub&gt; were again significantly different for AMP (175 vs. 277 µM), ROL (515 nM vs. 15 µM), and IND (28 vs. 42 µM), but also for 2-APB (27 vs. 40 µM). The confirmation studies revealed that a single dose of the tocolytics at their determined IC&lt;sub&gt;25(AUC)&lt;/sub&gt; and IC&lt;sub&gt;50(AUC)&lt;/sub&gt; concentrations consistently reduced contraction AUC by approximately 25% and 50%, respectively, whereas single doses of the IC&lt;sub&gt;25(Amplitude)&lt;/sub&gt; and IC&lt;sub&gt;50(Amplitude)&lt;/sub&gt; concentrations revealed inconsistent results. Of the six tocolytics, four reduced contraction amplitude by &gt; 25% when applied as a single dose at IC&lt;sub&gt;25(Amplitude)&lt;/sub&gt;, while three reduced contraction amplitude by &gt; 50% when applied at IC&lt;sub&gt;50(Amplitude)&lt;/sub&gt;. Our experimental data indicate that when determining tocolytic potency, assessment of","PeriodicalId":20920,"journal":{"name":"Reproductive Sciences","volume":" ","pages":"2027-2049"},"PeriodicalIF":2.6,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12187858/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144021545","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Advances in the Pathophysiology of Thin Endometrium. 薄子宫内膜病理生理学研究进展。
IF 2.6 3区 医学
Reproductive Sciences Pub Date : 2025-05-30 DOI: 10.1007/s43032-025-01882-y
Yifei Niu, Aiwen Le
{"title":"Advances in the Pathophysiology of Thin Endometrium.","authors":"Yifei Niu, Aiwen Le","doi":"10.1007/s43032-025-01882-y","DOIUrl":"https://doi.org/10.1007/s43032-025-01882-y","url":null,"abstract":"<p><p>A thin endometrial lining, typically defined as an endometrial thickness of less than 7 mm, is commonly associated with failed embryo implantation, recurrent pregnancy loss, and infertility. This review summarizes the current understanding of the pathophysiological mechanisms underlying thin endometrium and highlights emerging therapeutic approaches. Published studies indicate that impaired uterine perfusion and downregulation of vascular endothelial growth factor (VEGF) compromise angiogenesis, resulting in tissue-level reproductive defects. Hypoxia, together with the activation of the hypoxia-inducible factor 1-alpha (HIF-1α) and RhoA/Rho-associated protein kinase (ROCK) pathways, has been shown to disrupt epithelial cell integrity and exacerbate endometrial atrophy. Immune impairments characterized by abnormal cytokine signaling, reduced natural killer (NK) cell activity, and chronic endometritis further reduce endometrial tolerance. Additionally, epigenetic modifications, such as aberrant DNA methylation and microRNA (miRNA) dysregulation, have been linked to altered expression of key implantation-related genes, including homeobox A10 (HOXA10). Conventional therapies, such as estrogen supplementation, vasodilators, and granulocyte colony-stimulating factor (G-CSF), have variable efficacy. In contrast, regenerative strategies, including stem cell-based therapies, platelet-rich plasma (PRP), and biomaterial-based interventions, have shown promising potential for restoring endometrial function. A comprehensive understanding of these mechanisms is essential for improving diagnostic and therapeutic strategies, and while regenerative approaches represent a promising avenue for enhancing endometrial receptivity and reproductive success, further preclinical and clinical studies are warranted to optimize these novel therapies and evaluate their long-term safety and efficacy.</p>","PeriodicalId":20920,"journal":{"name":"Reproductive Sciences","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144187787","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
CHIR99021 Enhances the Proliferation of Mouse Female Germline Stem Cells Via Modulating ERCC2. CHIR99021通过调控ERCC2促进小鼠雌性种系干细胞增殖
IF 2.6 3区 医学
Reproductive Sciences Pub Date : 2025-05-29 DOI: 10.1007/s43032-025-01877-9
Qingling Jia, Geng G Tian, Xiaoyong Li, Ji Wu
{"title":"CHIR99021 Enhances the Proliferation of Mouse Female Germline Stem Cells Via Modulating ERCC2.","authors":"Qingling Jia, Geng G Tian, Xiaoyong Li, Ji Wu","doi":"10.1007/s43032-025-01877-9","DOIUrl":"https://doi.org/10.1007/s43032-025-01877-9","url":null,"abstract":"<p><p>Female germline stem cells (FGSCs) are a type of adult stem cell that exist in mammalian ovaries and can self-renew and differentiate into mature oocytes. Small molecule compounds are substances with a molecular weight less than 900 Daltons that can affect cellular functions and behaviors through various mechanisms. Here, we identified three compounds, Agrin, CHIR99021 (CHIR), and Testosterone, that can enhance the proliferation of FGSCs, with CHIR demonstrating superior efficacy. To elucidate the mechanism underlying CHIR's role in promoting FGSCs proliferation, we conducted RNA sequencing and tandem mass tag (TMT)-based quantitative proteomic profiling on FGSCs both with and without CHIR exposure. By integrating the data from these two sequencing approaches, we employed gene set enrichment analysis (GSEA) and identified Ercc2 as a crucial gene modulated by CHIR-induced FGSC proliferation. Further experiments confirmed that CHIR enhanced FGSCs proliferation via ERCC2. This research deepens our comprehension of the proliferative mechanisms of FGSCs and lays a theoretical foundation for future investigations into the developmental mechanisms of female germ cells, as well as the development of infertility treatments.</p>","PeriodicalId":20920,"journal":{"name":"Reproductive Sciences","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144174637","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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 Effect of AMH on Folliculogenesis. AMH对卵泡发生的影响。
IF 2.6 3区 医学
Reproductive Sciences Pub Date : 2025-05-23 DOI: 10.1007/s43032-025-01879-7
Mei Lv, Anni Feng, Di Cheng, Zejun Xu, Yuanjie Xie, Jian Tu
{"title":"The Effect of AMH on Folliculogenesis.","authors":"Mei Lv, Anni Feng, Di Cheng, Zejun Xu, Yuanjie Xie, Jian Tu","doi":"10.1007/s43032-025-01879-7","DOIUrl":"https://doi.org/10.1007/s43032-025-01879-7","url":null,"abstract":"<p><p>Polycystic ovary syndrome (PCOS) is a common and frequent disease and always leads to endocrine and metabolic disorders among women of reproductive age. In most PCOS patients, the serum level of anti-mullerian hormone (AMH) is significantly higher than that of normal women of childbearing age. AMH is an important auxiliary diagnostic method for PCOS. AMH may play an important role in the occurrence and development of PCOS and potentially affect the success of in vitro fertilization (IVF) treatments, although the exact mechanisms remain unclear. This review focuses on the relationships and mechanisms of dysregulated AMH and follicular development in PCOS based on recent research. It is mainly manifested in the regulation of related signal pathways, the negative feedback regulatory loop of several gonadal hormones such as follicle-stimulating hormone, luteinizing hormone, estradiol, and testosterone, as well as the influence of AMH on IVF in PCOS patients. Additionally, it puts forward some suggestions, which will provide some helpful ideas or directions for future further research on PCOS.</p>","PeriodicalId":20920,"journal":{"name":"Reproductive Sciences","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144128549","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Adverse Maternal and Fetal Outcomes Associated with Insomnia During Pregnancy: a Systematic Review and Meta-Analysis. 妊娠期间与失眠相关的不良母婴结局:一项系统回顾和荟萃分析。
IF 2.6 3区 医学
Reproductive Sciences Pub Date : 2025-05-21 DOI: 10.1007/s43032-025-01849-z
Dongmei Liu, Shujie Guo, Cunmei Tan, Ke Zhang, Yuxuan Feng, Xiaoxuan Bi, Jingjing Jiang, Wei Yang, Yanhong Wang
{"title":"Adverse Maternal and Fetal Outcomes Associated with Insomnia During Pregnancy: a Systematic Review and Meta-Analysis.","authors":"Dongmei Liu, Shujie Guo, Cunmei Tan, Ke Zhang, Yuxuan Feng, Xiaoxuan Bi, Jingjing Jiang, Wei Yang, Yanhong Wang","doi":"10.1007/s43032-025-01849-z","DOIUrl":"https://doi.org/10.1007/s43032-025-01849-z","url":null,"abstract":"<p><p>Insomnia affects most pregnant women. This systematic review aims to examine regarding gestational insomnia and its consequences on pregnant women and neonates. We performed a systematic search of seven databases for English and Chinese language articles about the association between insomnia and maternal complications and adverse fetal outcomes from inception to July 2022 then updated the search date to April 2024. We included observational studies concerning gestational insomnia and one or more adverse maternal, delivery, or neonatal outcomes. Data extraction was completed independently by two reviewers. The quality assessment was analyzed with the Newcastle-Ottawa quality assessment scale and an 11-item checklist recommended by Agency for Healthcare Research and Quality for observational cohort and cross-sectional studies. Data analysis was carried out through meta-analysis and narrative synthesis. Twenty-three identified studies (fifteen cohort studies, six cross-sectional studies and two case-control studies) examined the associations of gestational insomnia with adverse maternal and infant outcomes. The most consistent associations were observed between gestational insomnia and increased risks of perinatal depression (OR = 2.30, 95%CI:1.77,2.96, P = 0.002), perinatal anxiety and postpartum pain. There were mixed findings for post-traumatic stress disorder and low birth weight. Gestational insomnia was not associated with cesarean delivery (OR = 0.92, 95%CI: 0.61,1.38, P = 0.328), gestational hypertension (OR = 1.06, 95%CI: 0.90,1.25, P = 0.526), pre-eclampsia (OR = 1.67, 95%CI:0.21,13.44, P = 0.01), gestational diabetes (OR = 0.77, 95%CI: 0.48,1.24, P = 0.78), preterm birth (OR = 1.09, 95%CI:0.75,1.58, P = 0.073), high birth weight or low Apgar scores. There is an association between insomnia and some adverse maternal and infant outcomes, but larger samples and well-designed prospective studies are still needed to determine their relationship in the future.</p>","PeriodicalId":20920,"journal":{"name":"Reproductive Sciences","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144111821","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Prognostic Factors of Oncologic and Reproductive Outcomes in Conservative Therapy of Endometrial Hyperplasia and Endometrial Cancer: Systematic Review and Meta-Analysis. 子宫内膜增生和子宫内膜癌保守治疗中肿瘤和生殖结局的预后因素:系统回顾和荟萃分析。
IF 2.6 3区 医学
Reproductive Sciences Pub Date : 2025-05-19 DOI: 10.1007/s43032-025-01874-y
Ling He, Jiayu Wei, Dan Kuai, Dongcan Zhang, Yanfang Zhang, Wenyan Tian, Huiying Zhang, Yingmei Wang
{"title":"Prognostic Factors of Oncologic and Reproductive Outcomes in Conservative Therapy of Endometrial Hyperplasia and Endometrial Cancer: Systematic Review and Meta-Analysis.","authors":"Ling He, Jiayu Wei, Dan Kuai, Dongcan Zhang, Yanfang Zhang, Wenyan Tian, Huiying Zhang, Yingmei Wang","doi":"10.1007/s43032-025-01874-y","DOIUrl":"https://doi.org/10.1007/s43032-025-01874-y","url":null,"abstract":"<p><p>Despite broad consensus on the oncological criteria for the inclusion of patients in conservative therapy for endometrial cancer (EC), several prognostic factors affecting patients' subsequent oncological and reproductive outcomes have yet to be explored. To assess the prognostic factors influencing remission, pregnancy and recurrence in conservative therapy of endometrial hyperplasia (EH) and EC. Following the PRISMA statement and the Cochrane Handbook, the search for relevant studies was conducted in PubMed, Embase, Web of Science, Wan fang and China National Knowledge Infrastructure from the inception of the databases to 1 March 2024. Studies that met the inclusion criteria were evaluated for quality using the Newcastle-Ottawa Scale and subsequently analyzed for data extraction. This meta-analysis included 3815 patients with EC or EH treated with conservative therapy in 35 studies. The analysis revealed the overall remission rate of 92.0% (95% CI, 87.0-96.0%), pregnancy rate of 34.0% (95% CI, 32.0-36.0%), and recurrence rate of 27.0% (95% CI, 25.0-29.0%). Four study characteristics, including obesity, pathology type, lesion size, and insulin resistance were associated with remission rate. A total of 8 study characteristics were found to be associated with pregnancy rate, including obesity, pathology type, time to complete response (CR), mode of conception, intrauterine adhesion, the number of uterine manipulations, endometrial thickness and recurrence before pregnancy. Seven study characteristics were found to be associated with recurrence rate, including age over 35.0 years, obesity, family history of cancer, pathological type, abnormal menstruation, pregnancy and maintenance treatment after CR. Common prognostic factors affecting remission, pregnancy and recurrence of endometrial cancer and endometrial hyperplasia are obesity and type of pathology. Patient characteristics, medical factors, and pathological features significantly influence oncological and reproductive outcomes in patients with EH and EC undergoing conservative therapy. Consequently, careful clinical selection and individualized assessment of each candidate for conservative therapy are essential to optimally balance short-term oncological and reproductive outcomes with long-term survival prognosis.</p>","PeriodicalId":20920,"journal":{"name":"Reproductive Sciences","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144094701","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Reclassifying a Novel POMT1 Variant by Integrating Functional Analysis and Bioinformatics: Implications for Preimplantation Genetic Testing. 通过整合功能分析和生物信息学重新分类新的POMT1变异:植入前基因检测的意义。
IF 2.6 3区 医学
Reproductive Sciences Pub Date : 2025-05-01 Epub Date: 2024-12-30 DOI: 10.1007/s43032-024-01761-y
Binyu Ma, Zhidan Hong, Li Zhang, Ling Ma, Jie Duan, Ying Gao, Mei Wang, Yuanzhen Zhang
{"title":"Reclassifying a Novel POMT1 Variant by Integrating Functional Analysis and Bioinformatics: Implications for Preimplantation Genetic Testing.","authors":"Binyu Ma, Zhidan Hong, Li Zhang, Ling Ma, Jie Duan, Ying Gao, Mei Wang, Yuanzhen Zhang","doi":"10.1007/s43032-024-01761-y","DOIUrl":"10.1007/s43032-024-01761-y","url":null,"abstract":"<p><p>The advancement of next-generation sequencing has spurred the growing adoption of whole-exome sequencing (WES) for genetic screening. Preimplantation genetic testing for monogenic disorders (PGT-M) can effectively prevent the transmission of pathogenic variants. However, interpreting vast data volumes and ensuring precise genetic counseling, especially with variants of uncertain significance (VUS), remains challenging. In this study, we investigated a family with recurrent fetal malformations detected by prenatal ultrasound. WES identified compound heterozygous POMT1 variants, c.1052 + 1G > A and c.1483G > A in the proband; the latter was initially categorized as a VUS. Then our bioinformatics analysis revealed that c.1483G > A variant was located in a highly conserved domain essential for POMT1's enzymatic activity, potentially altering the protein's 3D structure. In vitro studies using HEK293T cells showed that the variant led to aberrant POMT1 mRNA and protein accumulation, impaired cell viability, and abnormal protein localization in the cytoplasm, indicating disruption of normal glycosylation processes. Combining bioinformatics analysis with in vitro experiments, we reclassified the c.1483G > A variant as likely pathogenic. Subsequently, the couple opted for PGT-M, culminating in the birth of a healthy child. Our findings underscore the pivotal role of genetic testing in recurrent fetal malformations and expand the spectrum of POMT1 variants. The successful reclassification of the variant by integrating in vitro experiments with bioinformatics provides substantial evidence for clinicians implementing PGT-M, offering a feasible strategy for counseling with VUS detected by WES.</p>","PeriodicalId":20920,"journal":{"name":"Reproductive Sciences","volume":" ","pages":"1612-1625"},"PeriodicalIF":2.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142910415","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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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