Journal of Assisted Reproduction and Genetics最新文献

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Effects of intrauterine infusion of autologous platelet-rich plasma gel on endometrial thickness and outcomes of frozen-thawed embryo transfer in women with thin endometrium 宫腔内注入自体富血小板血浆凝胶对子宫内膜厚度和子宫内膜薄妇女冻融胚胎移植结果的影响
IF 3.1 3区 医学
Journal of Assisted Reproduction and Genetics Pub Date : 2024-09-13 DOI: 10.1007/s10815-024-03254-y
Xiufen Wang, Yangyang Wang, Jing Li, Yetao Han, Minling Wei, Aike Xu, Liaobing Xin
{"title":"Effects of intrauterine infusion of autologous platelet-rich plasma gel on endometrial thickness and outcomes of frozen-thawed embryo transfer in women with thin endometrium","authors":"Xiufen Wang, Yangyang Wang, Jing Li, Yetao Han, Minling Wei, Aike Xu, Liaobing Xin","doi":"10.1007/s10815-024-03254-y","DOIUrl":"https://doi.org/10.1007/s10815-024-03254-y","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Purpose</h3><p>The purpose of this study is to determine whether intrauterine infusion of autologous platelet-rich plasma (PRP) gel increases endometrial thickness (EMT) and improves the outcomes of frozen-thawed embryo transfer (FET) in women with thin endometrium.</p><h3 data-test=\"abstract-sub-heading\">Methods</h3><p>This study included 111 women (aged 25–44 years) who had thin endometrium. All patients had at least one previous cycle canceled because of thin endometrium or previous embryo transfer cycles and an EMT &lt; 7 mm. Forty-seven women underwent intrauterine infusion of autologous PRP gel on three occasions during endometrial preparation and the remaining women served as controls. The final EMT was measured by ultrasound before the start of the luteal phase, and FET-related outcome parameters were monitored.</p><h3 data-test=\"abstract-sub-heading\">Results</h3><p>Mean EMT was greater in women who received PRP gel than in those who did not (6.7 mm vs. 6.3 mm, respectively, <i>p</i> &lt; 0.05). FET was attempted in all women. The 47 women who underwent infusion of PRP had a significantly higher pregnancy rate (18 pregnancies (38.3%), with 17 (36.2%) ongoing) compared with 64 control women (ten pregnancies (18.5%), nine (16.7%) ongoing). However, there was no significant reduction in the miscarriage rate.</p><h3 data-test=\"abstract-sub-heading\">Conclusion</h3><p>Intrauterine infusion of autologous PRP gel during endometrial preparation for FET cycles can improve the EMT, clinical pregnancy rate, and ongoing pregnancy rate in women with thin endometrium.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":"1 1","pages":""},"PeriodicalIF":3.1,"publicationDate":"2024-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142223048","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
Unlocking the potential of artificial intelligence in reproductive medicine: a bibliometric analysis from 1999 to 2024 释放人工智能在生殖医学中的潜力:1999 年至 2024 年的文献计量分析
IF 3.1 3区 医学
Journal of Assisted Reproduction and Genetics Pub Date : 2024-09-12 DOI: 10.1007/s10815-024-03251-1
Yi Wang, Yanggang Hong
{"title":"Unlocking the potential of artificial intelligence in reproductive medicine: a bibliometric analysis from 1999 to 2024","authors":"Yi Wang, Yanggang Hong","doi":"10.1007/s10815-024-03251-1","DOIUrl":"https://doi.org/10.1007/s10815-024-03251-1","url":null,"abstract":"","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":"4 1","pages":""},"PeriodicalIF":3.1,"publicationDate":"2024-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142223050","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
Familial DMRT1-related non-obstructive azoospermia: a case report 家族性 DMRT1 相关性非梗阻性无精子症:病例报告
IF 3.1 3区 医学
Journal of Assisted Reproduction and Genetics Pub Date : 2024-09-11 DOI: 10.1007/s10815-024-03250-2
Giulia Severi, Enrico Ambrosini, Luca Caramanna, Luigi Monti, Pamela Magini, Giovanni Innella
{"title":"Familial DMRT1-related non-obstructive azoospermia: a case report","authors":"Giulia Severi, Enrico Ambrosini, Luca Caramanna, Luigi Monti, Pamela Magini, Giovanni Innella","doi":"10.1007/s10815-024-03250-2","DOIUrl":"https://doi.org/10.1007/s10815-024-03250-2","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Purpose</h3><p>To report an exceptional case of male-to-male transmission of genetically based non-obstructive azoospermia (NOA) and varicocele through a naturally obtained pregnancy.</p><h3 data-test=\"abstract-sub-heading\">Subjects and methods</h3><p>A father and his son were both diagnosed with NOA after centrifugation and varicocele. The father has no other clinical concerns apart from infertility, detected after many attempts of having another child, but given his urological situation (bilateral varicocele and NOA) assisted reproductive techniques were discouraged. After genetic counseling, several genetic-chromosomal analyses were carried out in the son (karyotype, chromosome Y microdeletions, <i>CFTR</i> screening, NGS infertility panels, and finally array-CGH).</p><h3 data-test=\"abstract-sub-heading\">Results</h3><p>After a series of inconclusive tests, array-CGH detected a deletion of 224–283 kb (del9p24.3) involving part of the <i>KANK1</i> and <i>DMRT1</i> genes, inherited from the father. Haploinsufficiency of <i>DMRT1</i> was therefore considered the determining factor in the development of azoospermia in the family by a loss of function mechanism.</p><h3 data-test=\"abstract-sub-heading\">Conclusion</h3><p>The confirmation of father-to-son transmission of a deletion including <i>DMRT1</i> represents an important point for clinicians dealing with male infertility, even when complete azoospermia is repetitively detected, and must be of hope for a relevant portion of men. Inclusion criteria for the access to assisted reproductive techniques may also be reconsidered and worthy of a greater number of clinical insights. Finally, since <i>DMRT1</i> alterations have been associated with NOA and abnormal testicular development, but not specifically with varicocele, further studies are required to validate this issue, as varicocele may have played a crucial role in this case.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":"29 1","pages":""},"PeriodicalIF":3.1,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142223052","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
ART altered DNA methylation of the imprinted gene H19 in fetal tissue after multifetal pregnancy reduction ART 改变了多胎妊娠减胎后胎儿组织中印记基因 H19 的 DNA 甲基化
IF 3.1 3区 医学
Journal of Assisted Reproduction and Genetics Pub Date : 2024-09-10 DOI: 10.1007/s10815-024-03218-2
Wenbin Wu, Menglu Ji, Jingjing Yang, Meng Zhang, Dayong Hao, Xinyan Zhao, Saisai Li, Yichun Guan, Xingling Wang
{"title":"ART altered DNA methylation of the imprinted gene H19 in fetal tissue after multifetal pregnancy reduction","authors":"Wenbin Wu, Menglu Ji, Jingjing Yang, Meng Zhang, Dayong Hao, Xinyan Zhao, Saisai Li, Yichun Guan, Xingling Wang","doi":"10.1007/s10815-024-03218-2","DOIUrl":"https://doi.org/10.1007/s10815-024-03218-2","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Purpose</h3><p>This study aimed to assess whether assisted reproductive technology alters DNA methylation levels at the <i>H19</i> promoter and <i>H19</i> imprinting control element (ICE) in fetal tissues obtained after multifetal pregnancy reduction.</p><h3 data-test=\"abstract-sub-heading\">Methods</h3><p>Fetal tissues from multiple pregnancies were obtained, including fresh and frozen-thawed embryos: nine from conventional in vitro fertilization (c-IVF), four from intracytoplasmic sperm injection (ICSI), ten from cryopreserved IVF embryos (cryo-IVF), and six from cryopreserved ICSI (cryo-ICSI) embryos. Next-generation sequencing-based bisulfite PCR was used to determine the DNA methylation status of three CpG islands (<i>H19</i>-1, <i>H19</i>-2, and <i>H19</i>-3) in the <i>H19</i> promoter and <i>H19</i> ICE. The primary outcome was <i>H19</i>-1 DNA methylation status, whereas secondary outcomes assessed <i>H19</i>-2, <i>H19</i>-3, and ICE methylation.</p><h3 data-test=\"abstract-sub-heading\">Results</h3><p>The ICSI (β = -3.189, 95% CI = -5.034 to -1.345, <i>p</i> = 0.0026), cryo-IVF (β = -2.150, 95% CI = -3.706 to -0.593, <i>p</i> = 0.0129), and cryo-ICSI (β = -2.238, 95% CI = -3.817 to -0.659, <i>p</i> = 0.0110) groups exhibited significantly lower methylation levels in the primary outcome <i>H19</i>-1 region than the c-IVF group after adjustment. For the secondary outcome <i>H19</i>-2 region, significant decreases were observed in the cryo-IVF (β = -2.132, 95% CI = -4.071 to -0.192, <i>p</i> = 0.0425) and cryo-ICSI groups (β = -2.598, 95% CI = -4.566 to -0.630, <i>p</i> = 0.0168).</p><h3 data-test=\"abstract-sub-heading\">Conclusions</h3><p>These findings further indicate that embryo cryopreservation and potentially ICSI can lower the methylation level of the <i>H19</i> promoter, advocating for careful use of these techniques when necessary.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":"2 1","pages":""},"PeriodicalIF":3.1,"publicationDate":"2024-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142223051","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
Technically feasible solutions to challenges in preimplantation genetic testing for thalassemia: experiences of multiple centers between 2019 and 2022 地中海贫血植入前基因检测挑战的技术可行解决方案:2019 年至 2022 年期间多个中心的经验
IF 3.1 3区 医学
Journal of Assisted Reproduction and Genetics Pub Date : 2024-09-10 DOI: 10.1007/s10815-024-03240-4
Zi Ren, Peng Huang, Yong Wang, Yaxin Yao, Jun Ren, Linan Xu, Jinhui Shu, Liang Zhou, Dunmei Zhao, Xiaolan Li, Zhiqiang Zhang, Chunhui Zhang, Bolan Sun, Sijia Lu, Weiping Qian, Hong Zhou, Cong Fang
{"title":"Technically feasible solutions to challenges in preimplantation genetic testing for thalassemia: experiences of multiple centers between 2019 and 2022","authors":"Zi Ren, Peng Huang, Yong Wang, Yaxin Yao, Jun Ren, Linan Xu, Jinhui Shu, Liang Zhou, Dunmei Zhao, Xiaolan Li, Zhiqiang Zhang, Chunhui Zhang, Bolan Sun, Sijia Lu, Weiping Qian, Hong Zhou, Cong Fang","doi":"10.1007/s10815-024-03240-4","DOIUrl":"https://doi.org/10.1007/s10815-024-03240-4","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Purpose</h3><p>In clinical practice, the success of preimplantation genetic testing for monogenic diseases (PGT-M) for thalassemia was hindered by the absence of probands, incomplete family members, or failure in detecting embryonic gene mutation sites. This study aimed to address these issues.</p><h3 data-test=\"abstract-sub-heading\">Methods</h3><p>This retrospective study included 342 couples undergoing PGT-M for α- or β-thalassemia at three reproductive medicine centers from 2019 to 2022. Various methods were used to construct parental haplotypes. A total of 1778 embryos were analyzed and selected for transfer based on chromosomal ploidy and PGT-M results. Follow-up involved amniocentesis results and clinical outcomes.</p><h3 data-test=\"abstract-sub-heading\">Results</h3><p>Haplotypes were established using DNA samples from probands or parents, as well as sibling blood samples, single sperm, and affected embryos, achieving an overall success rate was 99.4% (340/342). For α-thalassemia and β-thalassemia, the concordance between embryo single nucleotide polymorphism (SNP) haplotype analysis results and mutation loci detection results was 93.8% (1011/1078) and 98.2% (538/548), respectively. Multiple annealing and looping-based amplification cycles (MALBAC) showed a higher whole genome amplification success rate than multiple displacement amplification (MDA) (98.8% (1031/1044) vs. 96.2% (703/731), <i>p</i> &lt; 0.001). Amniocentesis confirmed PGT-M outcomes in 100% of cases followed up (99/99).</p><h3 data-test=\"abstract-sub-heading\">Conclusion</h3><p>This study summarizes feasible solutions to various challenging scenarios encountered in PGT-M for thalassemia, providing valuable insights to enhance success rate of PGT-M in clinical practice.</p><h3 data-test=\"abstract-sub-heading\">Graphical Abstract</h3>\u0000","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":"26 1","pages":""},"PeriodicalIF":3.1,"publicationDate":"2024-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142227512","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
Personalized embryo transfer guided by rsERT with hourly precision improves pregnancy outcomes in patients with a receptive window of implantation: a pilot study 由 rsERT 每小时精确引导的个性化胚胎移植改善了有接受着床窗口患者的妊娠结局:一项试点研究
IF 3.1 3区 医学
Journal of Assisted Reproduction and Genetics Pub Date : 2024-09-10 DOI: 10.1007/s10815-024-03246-y
Tianli Yang, Zhaojuan Hou, Qiong Zhang, Jing Zhao, Nenghui Liu, Donge Liu, Yumei Li, Yonggang Wang, Bin Xu, Yangyun Zou, Cheng Wan, Yanping Li
{"title":"Personalized embryo transfer guided by rsERT with hourly precision improves pregnancy outcomes in patients with a receptive window of implantation: a pilot study","authors":"Tianli Yang, Zhaojuan Hou, Qiong Zhang, Jing Zhao, Nenghui Liu, Donge Liu, Yumei Li, Yonggang Wang, Bin Xu, Yangyun Zou, Cheng Wan, Yanping Li","doi":"10.1007/s10815-024-03246-y","DOIUrl":"https://doi.org/10.1007/s10815-024-03246-y","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Purpose</h3><p>To investigate whether personalized embryo transfer (pET) predicted by a modified RNA-sequencing-based endometrial receptivity test (rsERT) model can improve intrauterine pregnancy rate (IPR) in patients with a receptive window of implantation (WOI).</p><h3 data-test=\"abstract-sub-heading\">Design</h3><p>A retrospective pilot study was conducted in the Center for Reproductive Medicine, Central South University, from January 2018 to December 2023. A total of 524 patients with receptive WOI results from rsERT were assigned into two groups based on whether they underwent conventional embryo transfer (conventional ET) or pET. Patients in the conventional ET were matched with those in the pET group at a 1:1 ratio using propensity score matching (PSM).</p><h3 data-test=\"abstract-sub-heading\">Results</h3><p>Before PSM, the IPR (55.73% vs. 46.19%, <i>P</i> = 0.032) and implantation rate (IR) (47.51% vs. 34.03%, <i>P</i> = 0.000) in the pET group were significantly higher than that in the conventional ET group. However, the number and types of transferred embryos differed significantly between the two groups. After adjusting for confounding factors, IPR (57.38% vs. 44.81, <i>P</i> = 0.016) and IR (46.81% vs. 33.10%, <i>P</i> = 0.001) remained significantly higher in the pET group compared to the conventional ET group. The implantation failure rate was significantly lower in the pET group compared to controls (42.62% vs. 55.19%, <i>P</i> = 0.016). Additionally, the multiple-pregnancy rate was significantly higher in the pET group compared to the conventional ET group (10.29% vs. 1.68%, <i>P</i> = 0.001).</p><h3 data-test=\"abstract-sub-heading\">Conclusions</h3><p>Women with receptive WOI results could benefit from the receptivity-timed pET predicted by the newly refined rsERT. These findings provide a basis for future research in precision medicine for embryo transfer.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":"7 1","pages":""},"PeriodicalIF":3.1,"publicationDate":"2024-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142223053","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
Risk assessment of patients with underlying health conditions who present for IVF treatment. 对有潜在健康问题的试管婴儿患者进行风险评估。
IF 3.2 3区 医学
Journal of Assisted Reproduction and Genetics Pub Date : 2024-09-09 DOI: 10.1007/s10815-024-03249-9
Athanasios Papathanasiou, Dorian Hindmarsh, Belinda Searle
{"title":"Risk assessment of patients with underlying health conditions who present for IVF treatment.","authors":"Athanasios Papathanasiou, Dorian Hindmarsh, Belinda Searle","doi":"10.1007/s10815-024-03249-9","DOIUrl":"https://doi.org/10.1007/s10815-024-03249-9","url":null,"abstract":"<p><p>The increasing number of women with underlying health conditions seeking in vitro fertilization (IVF) necessitates a comprehensive risk assessment framework tailored to their needs. This review aims to provide a practical framework for IVF specialists to systematically assess and manage the risks associated with medically complex patients. The GRASP mnemonic (Genetics, Retrieval, Anaesthetics, Stimulation, Pregnancy) is introduced to facilitate a thorough risk assessment process. The review emphasizes the importance of obtaining detailed medical histories, corroborating information from other healthcare providers, and involving maternal medicine specialists in pre-pregnancy counselling. Furthermore, it highlights the ethical considerations of informed consent, advocating for fertility specialists to take a central role in coordinating care and ensuring patient understanding of risks. Continuous health evaluation throughout the IVF process and clear communication of risks are crucial for improving patient outcomes.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2024-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142154204","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
Trends in patient age at planned oocyte cryopreservation. 计划进行卵母细胞冷冻保存的患者年龄趋势。
IF 3.2 3区 医学
Journal of Assisted Reproduction and Genetics Pub Date : 2024-09-05 DOI: 10.1007/s10815-024-03237-z
Tal Shavit, Joseph Hasson, Jordana Hadassah Hyman, Avi Tsafrir
{"title":"Trends in patient age at planned oocyte cryopreservation.","authors":"Tal Shavit, Joseph Hasson, Jordana Hadassah Hyman, Avi Tsafrir","doi":"10.1007/s10815-024-03237-z","DOIUrl":"https://doi.org/10.1007/s10815-024-03237-z","url":null,"abstract":"<p><strong>Purpose: </strong>The outcome of planned oocyte cryopreservation (POC) is inversely related to the age at the time of oocyte cryopreservation commencing in the mid-30 s. We sought to evaluate whether the age of women undergoing POC has changed over the last decade.</p><p><strong>Methods: </strong>The study employed a retrospective, observational multicenter design. It included all women who had at least one POC cycle in two large private IVF units belonging to the same medical organization in Israel. The main outcome measure was age at the first cycle. Data on the total number of women each year and their age at the first cycle were recorded.</p><p><strong>Results: </strong>Between 2011 and the end of 2023, 4488 women underwent POC. The average age at the first retrieval was 36.2 years (± 2.4). In 2011, the average age was 38.3 years (± 2.6), which decreased to 35.4 years (± 2.5) in 2023. The trendline indicates a decline in the average age of 3.0 months per year (β =  - 0.252, F = 301.8, p < 0.001). The proportion of women aged < 36 at their first POC cycle increased from 14% in 2011 to 54% in 2023.</p><p><strong>Conclusions: </strong>The age at the time of POC has significantly declined over the past decade. This trend may potentially lead to higher overall birth rates from POC, though further research is needed to confirm this hypothesis.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142132874","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
Multifaceted paternal exposures before conception and their epigenetic impact on offspring. 父亲在受孕前的多方面暴露及其对后代的表观遗传影响。
IF 3.2 3区 医学
Journal of Assisted Reproduction and Genetics Pub Date : 2024-09-04 DOI: 10.1007/s10815-024-03243-1
Xiaojing Wu, Weiping Zhang, Huijun Chen, Jianfei Weng
{"title":"Multifaceted paternal exposures before conception and their epigenetic impact on offspring.","authors":"Xiaojing Wu, Weiping Zhang, Huijun Chen, Jianfei Weng","doi":"10.1007/s10815-024-03243-1","DOIUrl":"https://doi.org/10.1007/s10815-024-03243-1","url":null,"abstract":"<p><p>As scientific research progresses, there is an increasing understanding of the importance of paternal epigenetics in influencing the health and developmental path of offspring. Prior to conception, the environmental exposures and lifestyle choices of fathers can significantly influence the epigenetic state of sperm, including DNA methylation and histone changes, among other factors. These alterations in epigenetic patterns have the potential for transgenerational transmission potential and may exert profound effects on the biological characteristics of descendants. Paternal epigenetic changes not only affect the regulation of gene expression patterns in offspring but also increase the risk to certain diseases. It is crucial to comprehend the conditions that fathers are exposed to before conception and the potential outcomes of these conditions. This understanding is essential for assessing personal reproductive decisions and anticipating health risks for future generations. This review article systematically summarizes and analyzes current research findings regarding how paternal pre-pregnancy exposures influence offspring as well as elucidates underlying mechanisms, aiming to provide a comprehensive perspective for an enhanced understanding of the impact that paternal factors have on offspring health.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2024-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142125849","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
Artificial intelligence interpretation of touch print smear cytology of testicular specimen from patients with azoospermia. 无精子症患者睾丸标本触摸打印涂片细胞学人工智能解读。
IF 3.2 3区 医学
Journal of Assisted Reproduction and Genetics Pub Date : 2024-09-03 DOI: 10.1007/s10815-024-03215-5
Chen-Hao Hsu, Chun-Fu Yeh, I-Shen Huang, Wei-Jen Chen, Yu-Ching Peng, Cheng-Han Tsai, Mong-Chi Ko, Chun-Ping Su, Hann-Chyun Chen, Wei-Lin Wu, Tyng-Luh Liu, Kuang-Min Lee, Chiao-Hsuan Li, Ethan Tu, William J Huang
{"title":"Artificial intelligence interpretation of touch print smear cytology of testicular specimen from patients with azoospermia.","authors":"Chen-Hao Hsu, Chun-Fu Yeh, I-Shen Huang, Wei-Jen Chen, Yu-Ching Peng, Cheng-Han Tsai, Mong-Chi Ko, Chun-Ping Su, Hann-Chyun Chen, Wei-Lin Wu, Tyng-Luh Liu, Kuang-Min Lee, Chiao-Hsuan Li, Ethan Tu, William J Huang","doi":"10.1007/s10815-024-03215-5","DOIUrl":"https://doi.org/10.1007/s10815-024-03215-5","url":null,"abstract":"<p><strong>Purpose: </strong>Identification of mature sperm at microdissection testicular sperm extraction (mTESE) is a crucial step of sperm retrieval to help patients with non-obstructive azoospermia (NOA) proceed to intracytoplasmic sperm injection. Touch print smear (TPS) cytology allows immediate interpretation and prompt sperm identification intraoperatively. In this study, we leverage machine learning (ML) to facilitate TPS reading and conquer the learning curve for new operators.</p><p><strong>Materials and methods: </strong>One hundred seventy-six microscopic TPS images from the testicular specimen of patients with azoospermia at Taipei Veterans General Hospital were retrospectively collected, including categories of Sertoli cell, primary spermatocytes, round spermatids, elongated spermatids, immature sperm, and mature sperm. Among them, 118 images were assigned as the training set and 29 images as the validation set. RetinaNet (Lin et al. in IEEE Trans Pattern Anal Mach Intell. 42:318-327, 2020), a one-stage detection framework, was adopted for cell detection. The performance was evaluated at the cell level with average precision (AP) and recall, and the precision-recall (PR) curve was displayed among an independent testing set that contains 29 images that aim to assess the model.</p><p><strong>Results: </strong>The training set consisted of 4772 annotated cells, including 1782 Sertoli cells, 314 primary spermatocytes, 443 round spermatids, 279 elongated spermatids, 504 immature sperm, and 1450 mature sperm. This study demonstrated the performance of each category and the overall AP and recall on the validation set, which were 80.47% and 96.69%. The overall AP and recall were 79.48% and 93.63% on the testing set, while increased to 85.29% and 93.80% once the post-meiotic cells were merged into one category.</p><p><strong>Conclusions: </strong>This study proposed an innovative approach that leveraged ML methods to facilitate the diagnosis of spermatogenesis at mTESE for patients with NOA. With the assistance of ML techniques, surgeons could determine the stages of spermatogenesis and provide timely histopathological diagnosis for infertile males.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2024-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142119929","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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