Human reproduction open最新文献

{"title":"Blastocyst telomere length predicts successful implantation after frozen-thawed embryo transfer.","authors":"Chun-Wei Chien, Yen-An Tang, Shuen-Lin Jeng, Hsien-An Pan, H Sunny Sun","doi":"10.1093/hropen/hoae012","DOIUrl":"10.1093/hropen/hoae012","url":null,"abstract":"<p><strong>Study question: </strong>Do embryos with longer telomere length (TL) at the blastocyst stage have a higher capacity to survive after frozen-thawed embryo transfer (FET)?</p><p><strong>Summary answer: </strong>Digitally estimated TL using low-pass whole genome sequencing (WGS) data from the preimplantation genetic testing for aneuploidy (PGT-A) process demonstrates that blastocyst TL is the most essential factor associated with likelihood of implantation.</p><p><strong>What is known already: </strong>The lifetime TL is established in the early cleavage cycles following fertilization through a recombination-based lengthening mechanism and starts erosion beyond the blastocyst stage. In addition, a telomerase-mediated slow erosion of TL in human fetuses has been observed from a gestational age of 6-11 weeks. Finally, an abnormal shortening of telomeres is likely involved in embryo loss during early development.</p><p><strong>Study design size duration: </strong>Blastocyst samples were obtained from patients who underwent PGT-A and FET in an IVF center from March 2015 to May 2018. Digitally estimated mitochondrial copy number (mtCN) and TL were used to study associations with the implantation potential of each embryo.</p><p><strong>Participants/materials setting and methods: </strong>In total, 965 blastocysts from 232 cycles (164 patients) were available to investigate the biological and clinical relevance of TL. A WGS-based workflow was applied to determine the ploidy of each embryo. Data from low-pass WGS-PGT-A were used to estimate the mtCN and TL for each embryo. Single-variant and multi-variant logistic regression, decision tree, and random forest models were applied to study various factors in association with the implantation potential of each embryo.</p><p><strong>Main results and the role of chance: </strong>Of the 965 blastocysts originally available, only 216 underwent FET. While mtCN from the transferred embryos is significantly associated with the ploidy call of each embryo, mtCN has no role in impacting IVF outcomes after an embryo transfer in these women. The results indicate that mtCN is a marker of embryo aneuploidy. On the other hand, digitally estimated TL is the most prominent univariant factor and showed a significant positive association with pregnancy outcomes (<i>P</i> < 0.01, odds ratio 79.1). We combined several maternal and embryo parameters to study the joint effects on successful implantation. The machine learning models, namely decision tree and random forest, were trained and yielded classification accuracy of 0.82 and 0.91, respectively. Taken together, these results support the vital role of TL in governing implantation potential, perhaps through the ability to control embryo survival after transfer.</p><p><strong>Limitations reasons for caution: </strong>The small sample size limits our study as only 216 blastocysts were transferred. The number was further reduced to 153 blastocysts, where pregnancy outcome","PeriodicalId":73264,"journal":{"name":"Human reproduction open","volume":"2024 2","pages":"hoae012"},"PeriodicalIF":0.0,"publicationDate":"2024-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10955253/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140186467","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"No evidence of a causal relationship between miscarriage and 25-hydroxyvitamin D: a Mendelian randomization study.","authors":"Feng Zhang, Jingtao Huang, Gangting Zhang, Mengyang Dai, Tailang Yin, Chunyu Huang, Jue Liu, Yan Zhang","doi":"10.1093/hropen/hoae011","DOIUrl":"10.1093/hropen/hoae011","url":null,"abstract":"<p><strong>Study question: </strong>Is there a causal relationship between 25-hydroxyvitamin D (25OHD) and miscarriage?</p><p><strong>Summary answer: </strong>In this study, little evidence of a causal relationship was found between low serum 25OHD concentration or vitamin D deficiency and the risk of miscarriages.</p><p><strong>What is known already: </strong>Associations between low vitamin D levels and increased risk of miscarriage have been reported, but causality is unclear.</p><p><strong>Study design size duration: </strong>The latest and largest genome-wide association studies (GWAS) for serum 25OHD concentration (n = 417 580), vitamin D deficiency (426 cases and 354 812 controls), miscarriage (16 906 cases and 149 622 controls), and the number of miscarriages (n = 78 700) were used to explore the causal association between serum vitamin D levels and miscarriage by two-sample Mendelian randomization analysis.</p><p><strong>Participants/materials setting methods: </strong>This study was based on summary GWAS results from the FinnGen database and the UK Biobank. The random-effect inverse-variance weighted method was regarded as the primary analysis; MR-Egger, weighted median, weighted mode, simple mode, and MR-pleiotropy residual sum and outlier (MR-PRESSO) were further employed as complementary methods. MR-Egger intercept analysis and MR-PRESSO were employed to test pleiotropy, and Cochran's Q statistic and leave-one-out sensitivity analysis were used to determine the heterogeneity and robustness of the overall estimates, respectively.</p><p><strong>Main results and the role of chance: </strong>There was insufficient evidence of causal associations between serum 25OHD concentration and miscarriage (odds ratio (OR) = 0.995, 95% CI: 0.888 to 1.114, <i>P</i> = 0.927), or the number of miscarriages (β = -0.004, 95% CI: -0.040 to 0.032, <i>P</i> = 0.829). Furthermore, little evidence of causality between genetically determined vitamin D deficiency to miscarriage (OR = 0.993, 95% CI: 0.966 to 1.021, <i>P</i> = 0.624), or the number of miscarriages (β = 0.001, 95% CI: -0.009 to 0.011, <i>P</i> = 0.828), was observed. The results of the sensitivity analysis were robust, and no significant heterogeneity or horizontal pleiotropy was found.</p><p><strong>Limitations reasons for caution: </strong>This study is limited by the absence of female-specific GWAS data and the limited amount of GWAS data available for this study, as well as the need for caution in generalizing the findings to non-European ethnic groups.</p><p><strong>Wider implications of the findings: </strong>These findings enhance the current understanding of the intricate association between vitamin D and pregnancy outcomes, challenging prevailing beliefs regarding the strong association with miscarriage. The results provide a special perspective that may prompt further exploration and potentially offer insights for guiding future research and informing clinical guidelines pertaining to th","PeriodicalId":73264,"journal":{"name":"Human reproduction open","volume":"2024 2","pages":"hoae011"},"PeriodicalIF":0.0,"publicationDate":"2024-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10918637/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140061460","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reply: A paradox? Which paradox?","authors":"Edgardo Somigliana, Alessandra Chinè, Marco Reschini, Gianfranco Fornelli, Ludovica Basili, Andrea Busnelli, Paola Viganò, Ludovico Muzii","doi":"10.1093/hropen/hoae007","DOIUrl":"10.1093/hropen/hoae007","url":null,"abstract":"","PeriodicalId":73264,"journal":{"name":"Human reproduction open","volume":"2024 1","pages":"hoae007"},"PeriodicalIF":0.0,"publicationDate":"2024-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10879745/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139934506","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neurotrophin-4 promotes <i>in vitro</i> development and maturation of human secondary follicles yielding metaphase II oocytes and successful blastocyst formation.","authors":"Yingchun Guo, Lei Jia, Haitao Zeng, Peng Sun, Wenlong Su, Tingting Li, Xiaoyan Liang, Cong Fang","doi":"10.1093/hropen/hoae005","DOIUrl":"10.1093/hropen/hoae005","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Study question: &lt;/strong&gt;Does a matrix-free culture system supplemented with neurotrophic factor 4 (NT4) improve human &lt;i&gt;in vitro&lt;/i&gt; follicular development and meiotic maturation, ultimately resulting in fertilizable oocytes?&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Summary answer: &lt;/strong&gt;NT4 supplementation of &lt;i&gt;in vitro&lt;/i&gt; culture significantly enhances the growth, steroid hormone production, and maturity potential of human secondary follicles derived from fresh ovarian medulla (from post- and pre-pubertal patients), thereby yielding fertilizable oocytes.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;What is known already: &lt;/strong&gt;Reconstituting folliculogenesis &lt;i&gt;in vitro&lt;/i&gt; is of paramount importance in the realms of fertility preservation, reproductive biology research, and reproductive toxicity assessments. However, the efficiency of &lt;i&gt;in vitro&lt;/i&gt; culture systems remains suboptimal, as the attainment of fertilizable oocytes from &lt;i&gt;in vitro&lt;/i&gt; growth (IVG) of human follicles remains unachieved, with the data being particularly scant regarding follicles from prepubertal girls. We have previously found that mouse oocytes from secondary follicles derived from IVG are deficient in neuroendocrine regulation. NT4 and its corresponding receptor have been identified in human follicles. Significantly, the addition of NT4 during the IVG process markedly enhances both follicle growth and oocyte maturation rates in mice.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Study design size duration: &lt;/strong&gt;Fresh medulla tissue obtained during tissue preparation for ovarian tissue cryopreservation (OTC) were collected from 10 patients aged from 6 to 21 years old, all of whom had undergone unilateral oophorectomy as a means of fertility preservation. Isolated secondary follicles were individually cultured &lt;i&gt;in vitro&lt;/i&gt; with or without NT4 in a matrix-free system.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Participants/materials setting methods: &lt;/strong&gt;Secondary follicles, extracted via enzymatic digestion and mechanical disruption from each patient, were randomly allocated to either a control group or an NT4-supplemented group (100 ng/ml), followed by individual culture on an ultra-low attachment plate. Follicle growth and viability were assessed by microscopy. Levels of anti-Müllerian hormone (AMH), estradiol, and progesterone in the medium were quantified. An oocyte-specific marker was identified using confocal fluorescence microscopy following DEAD box polypeptide 4 (DDX4) staining. The competence of individual oocytes for maturation and fertilization were assessed after IVM and ICSI with donated sperm samples.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Main results and the role of chance: &lt;/strong&gt;Overall, isolated follicles from both groups survived up to 6 weeks with increasing diameters over the duration (&lt;i&gt;P&lt;/i&gt; &lt; 0.05), reaching terminal diameters of almost 1 mm with confirmed steroidogenesis and expression of oocyte marker (DDX4), and producing morphologically normal MII oocytes. When compared with the control group, the NT4 group had a similar initial follicular dia","PeriodicalId":73264,"journal":{"name":"Human reproduction open","volume":"2024 1","pages":"hoae005"},"PeriodicalIF":0.0,"publicationDate":"2024-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10873269/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139901139","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Fertility preservation in adult male patients with cancer: a systematic review and meta-analysis.","authors":"Qing Li, Qiong-Yu Lan, Wen-Bing Zhu, Li-Qing Fan, Chuan Huang","doi":"10.1093/hropen/hoae006","DOIUrl":"10.1093/hropen/hoae006","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Study question: &lt;/strong&gt;Does sperm cryopreservation serve as a feasible and effective method for preserving fertility in adult male patients with cancer?&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Summary answer: &lt;/strong&gt;Sperm cryopreservation is an effective fertility preservation method and may benefit patients with cancer.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;What is known already: &lt;/strong&gt;Sperm cryopreservation is the only way to efficiently preserve male fertility. It is an important procedure in ART. Recently, due to remarkable advances in cancer treatment, an increasing number of studies have reported the outcomes of sperm cryopreservation in patients with cancer.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Study design size duration: &lt;/strong&gt;We conducted an extensive literature search for relevant studies published through to 31 December 2021, in the following databases: CENTRAL, CNKI, Cochrane Systematic Reviews, EMBASE, MEDLINE, PUBMED, and Web of Science. The search terms used were '(cryopreservation OR freeze OR freezing OR banking OR cryostorage OR storage) AND (sperm OR semen OR spermatozoon) AND (cancer OR tumor OR malignancy OR neoplasm)'.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Participants/materials setting methods: &lt;/strong&gt;We included all studies that reported offering or attempting to cryopreserve sperm before or during cancer treatment in male patients considered at risk of treatment-related fertility impairment. We evaluated the eligibility of all data in each study. The major exclusion criteria were as follows: non-cancer patients; pediatric and adolescent cancer patients; not reporting the use of cryopreserved sperm; use of fresh semen for ART; not reporting the number of patients with cancer offered sperm cryopreservation or attempting to do so before or during treatment; using an experimental fertility preservation technique such as preservation of testicular tissue or spermatogonial stem cells; duplicate data; abstracts, case report, comments, reviews, or editorials; insufficient data reported. The quality of the included studies was assessed using the Newcastle-Ottawa scale and the Methodological Index for Non-Randomized Studies.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Main results and the role of chance: &lt;/strong&gt;This meta-analysis included 69 non-randomized studies, with 32 234 patients referred for sperm analysis and 23 178 patients cryopreserving at least one sperm sample. The pooled failed-to-cryopreserve rate was 10% (95% CI, 8-12%), and the sperm disposal and sperm use rates were 23% (95% CI, 16-30%) and 9% (95% CI, 8-10%), respectively. The pregnancy, miscarriage, and delivery rates were 28% (95% CI, 22-33%), 13% (95% CI, 10-17%), and 20% (95% CI, 15-25%), respectively. Subgroup analysis showed higher pregnancy and delivery rates, as well as a lower failed-to-cryopreserve rate, in recent studies compared to those released a decade ago. The studies from Asia reported higher sperm disposal and pregnancy rates than in other continents. Our analysis showed clinical pregnancy rates per cycle of 34% (27-41%), 24% (14-35%), and 9% (5","PeriodicalId":73264,"journal":{"name":"Human reproduction open","volume":"2024 1","pages":"hoae006"},"PeriodicalIF":0.0,"publicationDate":"2024-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10882264/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139934505","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ultra-processed food consumption and semen quality parameters in the Led-Fertyl study.","authors":"Cristina Valle-Hita, Albert Salas-Huetos, María Fernández de la Puente, María Ángeles Martínez, Silvia Canudas, Antoni Palau-Galindo, Cristina Mestres, José María Manzanares, Michelle M Murphy, Montse Marquès, Jordi Salas-Salvadó, Nancy Babio","doi":"10.1093/hropen/hoae001","DOIUrl":"10.1093/hropen/hoae001","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Study question: &lt;/strong&gt;Is ultra-processed food (UPF) consumption associated with semen quality parameters?&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Summary answer: &lt;/strong&gt;Higher UPF consumption was inversely associated with total sperm count, sperm concentration, and total motility in men of reproductive age.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;What is known already: &lt;/strong&gt;The consumption of UPF, which has been rising during the last decades, has been demonstrated to be positively associated with several chronic diseases such as diabetes or cardiovascular diseases. However, the scientific evidence on its potential impact on semen quality remains notably limited.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Study design size duration: &lt;/strong&gt;A cross-sectional analysis was conducted using data from 200 healthy men (mean age 28.4 ± 5.5 years) enrolled in the Led-Fertyl (Lifestyle and Environmental Determinants of Seminogram and Other Male Fertility-Related Parameters) study between February 2021 and April 2023.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Participants/materials setting methods: &lt;/strong&gt;UPF consumption (% of energy from UPF) was estimated according to the NOVA classification system using a validated 143-item semi-quantitative food frequency questionnaire. Total sperm count, sperm concentration, sperm vitality, total motility, progressive motility, and normal sperm forms were set as the main outcomes. Microscopic parameters were analyzed using a phase-contrast microscope and a computer-assisted sperm analysis (CASA) system. Semen samples were collected and tested according to World Health Organization 2010 standards. Multivariable linear regression models were fitted to estimate the associations between UPF tertile and semen quality parameters.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Main results and the role of chance: &lt;/strong&gt;Sperm concentration (&lt;i&gt;β&lt;/i&gt;: -1.42 × 10&lt;sup&gt;6&lt;/sup&gt; spz./ml; 95% CI: -2.72 to -0.12) and motility (&lt;i&gt;β&lt;/i&gt;: -7.83%; 95% CI: -15.16 to -0.51) were lower in participants in the highest tertile of UPF compared to the lowest. A similar association was observed for sperm count when UPF was analyzed per 10% increment of energy from UPF consumption (&lt;i&gt;β&lt;/i&gt;: -1.50 × 10&lt;sup&gt;6&lt;/sup&gt; spz.; 95% CI: -2.83 to -0.17). Theoretically replacing 10% of energy from UPF consumption with 10% of energy from unprocessed or minimally processed food consumption was associated with a higher total sperm count, sperm concentration, total motility, progressive motility, and normal sperm forms.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Limitations reasons for caution: &lt;/strong&gt;Cross-sectional studies do not permit the drawing of causal inferences. Measurement errors and reporting bias cannot be entirely ruled out.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Wider implications of the findings: &lt;/strong&gt;This work suggests that consumption of UPF may have an impact on certain semen quality parameters. Furthermore, opting for unprocessed or minimally processed foods instead of UPFs could potentially benefit semen quality. If these results are replicated in future epidemiological studies with different long-ter","PeriodicalId":73264,"journal":{"name":"Human reproduction open","volume":"2024 1","pages":"hoae001"},"PeriodicalIF":8.3,"publicationDate":"2024-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10813743/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139571676","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Bi-allelic variants in <i>DNAH3</i> cause male infertility with asthenoteratozoospermia in humans and mice.","authors":"Gui-Quan Meng, Yaling Wang, Chen Luo, Yu-Mei Tan, Yong Li, Chen Tan, Chaofeng Tu, Qian-Jun Zhang, Liang Hu, Huan Zhang, Lan-Lan Meng, Chun-Yu Liu, Leiyu Deng, Guang-Xiu Lu, Ge Lin, Juan Du, Yue-Qiu Tan, Yanwei Sha, Lingbo Wang, Wen-Bin He","doi":"10.1093/hropen/hoae003","DOIUrl":"10.1093/hropen/hoae003","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Study question: &lt;/strong&gt;Are there other pathogenic genes for asthenoteratozoospermia (AT)?&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Summary answer: &lt;/strong&gt;&lt;i&gt;DNAH3&lt;/i&gt; is a novel candidate gene for AT in humans and mice.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;What is known already: &lt;/strong&gt;AT is a major cause of male infertility. Several genes underlying AT have been reported; however, the genetic aetiology remains unknown in a majority of affected men.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Study design size duration: &lt;/strong&gt;A total of 432 patients with AT were recruited in this study. &lt;i&gt;DNAH3&lt;/i&gt; mutations were identified by whole-exome sequencing (WES). &lt;i&gt;Dnah3&lt;/i&gt; knockout mice were generated using the genome editing tool. The morphology and motility of sperm from &lt;i&gt;Dnah3&lt;/i&gt; knockout mice were investigated. The entire study was conducted over 3 years.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Participants/materials setting methods: &lt;/strong&gt;WES was performed on 432 infertile patients with AT. In addition, two lines of &lt;i&gt;Dnah3&lt;/i&gt; knockout mice were generated. Haematoxylin and eosin (H&E) staining, transmission electron microscopy (TEM), immunostaining, and computer-aided sperm analysis (CASA) were performed to investigate the morphology and motility of the spermatozoa. ICSI was used to overcome the infertility of one patient and of the &lt;i&gt;Dnah3&lt;/i&gt; knockout mice.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Main results and the role of chance: &lt;/strong&gt;&lt;i&gt;DNAH3&lt;/i&gt; biallelic variants were identified in three patients from three unrelated families. H&E staining revealed various morphological abnormalities in the flagella of sperm from the patients, and TEM and immunostaining further showed the loss of the central pair of microtubules, a dislocated mitochondrial sheath and fibrous sheath, as well as a partial absence of the inner dynein arms. In addition, the two &lt;i&gt;Dnah3&lt;/i&gt; knockout mouse lines demonstrated AT. One patient and the &lt;i&gt;Dnah3&lt;/i&gt; knockout mice showed good treatment outcomes after ICSI.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Large scale data: &lt;/strong&gt;N/A.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Limitations reasons for caution: &lt;/strong&gt;This is a preliminary report suggesting that defects in &lt;i&gt;DNAH3&lt;/i&gt; can lead to asthenoteratozoospermia in humans and mice. The pathogenic mechanism needs to be further examined in a future study.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Wider implications of the findings: &lt;/strong&gt;Our findings show that &lt;i&gt;DNAH3&lt;/i&gt; is a novel candidate gene for AT in humans and mice and provide crucial insights into the biological underpinnings of this disorder. The findings may also be beneficial for counselling affected individuals.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Study funding/competing interests: &lt;/strong&gt;This work was supported by grants from National Natural Science Foundation of China (82201773, 82101961, 82171608, 32322017, 82071697, and 81971447), National Key Research and Development Program of China (2022YFC2702604), Scientific Research Foundation of the Health Committee of Hunan Province (B202301039323, B202301039518), Hunan Provincial Natural Science Foundation (2023JJ30716), the Medical Innovation Proje","PeriodicalId":73264,"journal":{"name":"Human reproduction open","volume":"2024 1","pages":"hoae003"},"PeriodicalIF":8.3,"publicationDate":"2024-01-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10834362/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139682038","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Double vitrification and warming does not compromise the chance of live birth—a potential invalid conclusion","authors":"Laszlo Nanassy, B. Schoepper, A. Schultze-Mosgau, M. Depenbusch, Tanja K Eggersmann, R. Hiller, G. Griesinger","doi":"10.1093/hropen/hoad049","DOIUrl":"https://doi.org/10.1093/hropen/hoad049","url":null,"abstract":"","PeriodicalId":73264,"journal":{"name":"Human reproduction open","volume":"81 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139386155","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reply: Double vitrification and warming does not compromise the chance of live birth—a potential invalid conclusion","authors":"S. Makieva, M. Sachs, Min Xie, Ana Velasco, Samia El-Hadad, D. R. Kalaitzopoulos, Ioannis Dedes, R. Stiller, B. Leeners","doi":"10.1093/hropen/hoad050","DOIUrl":"https://doi.org/10.1093/hropen/hoad050","url":null,"abstract":"","PeriodicalId":73264,"journal":{"name":"Human reproduction open","volume":"20 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139385374","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Influence of ovarian stromal cells on human ovarian follicle growth in a 3D environment","authors":"M. Grubliauskaitė, H. Vlieghe, S. Moghassemi, A. Dadashzadeh, A. Camboni, Ž. Gudlevičienė, C. Amorim","doi":"10.1093/hropen/hoad052","DOIUrl":"https://doi.org/10.1093/hropen/hoad052","url":null,"abstract":"\u0000 \u0000 \u0000 Do ovarian stromal cells (OSCs) influence the viability and growth of human pre-antral follicles in vitro?\u0000 \u0000 \u0000 \u0000 A feeder layer of oSCs promotes the growth and transition of low developmental stage follicles to the primary/secondary stage while maintaining a high proportion of viable follicles.\u0000 \u0000 \u0000 \u0000 In the ovary, follicles rely on the support of ovarian cells, which secrete essential factors for their survival and development. This phenomenon has also been demonstrated in vitro through the 3D culture of isolated mouse primary and secondary follicles on a feeder layer of ovarian stromal cells. This co-culture notably enhances follicle survival and growth.\u0000 \u0000 \u0000 \u0000 Pre-antral follicles were isolated from human frozen-thawed ovarian tissue (OT) biopsies and then encapsulated in 1% alginate scaffolds. These embedded pre-antral follicles were either placed directly on the OSCs feeder layer or at the bottom of a culture dish for a 7-day in vitro culture (control). The study compared follicle viability, growth and hormone production between the different groups.\u0000 \u0000 \u0000 \u0000 Primordial/intermediate and primary follicles were isolated from frozen-thawed OT of cancer patients (n = 6). Ovarian stromal cells were then isolated from OT of post-menopausal women and cultured as a feeder layer. Follicle diameter was measured on days 0 and 7 using an inverted microscope to assess their development based on the increase in diameter. Viability was evaluated by staining a subset of follicles (n = 87) with calcein AM and ethidium homodimer-I, followed by classification into healthy/minimally damaged and damaged/dead follicles using confocal fluorescence microscopy. Additionally, estradiol levels were measured using ELISA.\u0000 \u0000 \u0000 \u0000 A total of 382 human preantral follicles (370 primordial/intermediate and 12 primary) with a mean diameter of 40.8 ± 9.9 µm (mean±SD) were isolated, embedded in 1% alginate hydrogel, and placed either on a monolayer of oSCs or directly on the plastic. By Day 7, the preantral follicles showed a significant size increase under both culture conditions (p &lt; 0.0001 for D0 vs D7). The mean diameter of follicles (quiescent and growing) cultured on the feeder layer was 80.6 ± 11.0 μm compared to 67.3 ± 7.2 μm without it (p = 0.07). During the 7-day in vitro culture, the viability of the follicles significantly decreased only in the group without an OSCs monolayer compared to the D0 viability (p &lt; 0.05). Additionally, more follicles transitioned to a higher developmental stage in the presence of OSCs (D0 primordial/intermediate: 184, primary: 7 vs D7 primordial/intermediate: 51, primary/secondary: 93) compared to those cultured without OSCs (D0 primordial/intermediate: 186, primary: 5 vs D7 primordial/intermediate: 84, primary/secondary: 65; p &lt; 0.001). Specifically, 66 and 44 follicles reached the secondary stage (75 &lt; x &lt; 200 μm) in the presence and absence of OSCs, respectively. Moreover, the estradiol level was significantly higher (p = 0.006) i","PeriodicalId":73264,"journal":{"name":"Human reproduction open","volume":"62 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138951660","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}