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Effect of endometrial biopsy method on ribonucleic acid quality and gene expression analysis in patients with leiomyoma 子宫内膜活检方法对子宫肌瘤患者核糖核酸质量和基因表达分析的影响
FS Reports Pub Date : 2024-03-01 DOI: 10.1016/j.xfre.2023.11.006
Thea Falkenberg Mikkelsen M.D. , Maria Vera-Rodriguez Ph.D. , Gareth Greggains Ph.D. , Péter Fedorcsák M.D., Ph.D. , Kirsten Hald M.D., Ph.D.
{"title":"Effect of endometrial biopsy method on ribonucleic acid quality and gene expression analysis in patients with leiomyoma","authors":"Thea Falkenberg Mikkelsen M.D. ,&nbsp;Maria Vera-Rodriguez Ph.D. ,&nbsp;Gareth Greggains Ph.D. ,&nbsp;Péter Fedorcsák M.D., Ph.D. ,&nbsp;Kirsten Hald M.D., Ph.D.","doi":"10.1016/j.xfre.2023.11.006","DOIUrl":"10.1016/j.xfre.2023.11.006","url":null,"abstract":"<div><h3>Objective</h3><p>To compare ribonucleic acid (RNA) quantity and purity in tissue collected with different endometrial sampling methods to establish the optimal tool for use in endometrial gene expression studies.</p></div><div><h3>Design</h3><p>Observational study.</p></div><div><h3>Setting</h3><p>University hospital.</p></div><div><h3>Patients</h3><p>Fourteen patients with submucosal leiomyomas.</p></div><div><h3>Interventions</h3><p>Unguided biopsies were obtained using a low-pressure suction device before hysteroscopy from 14 patients with submucosal leiomyomas followed by guided biopsy with a resectoscope loop. Fifty-seven samples were collected: 25 obtained using a suction device and 32 with a loop.</p></div><div><h3>Main Outcome Measures</h3><p>Total biopsy weight, RNA purity, and RNA yield for each collection method. After complementary deoxyribonucleic acid synthesis, <em>HOXA10</em> expression was measured by quantitative polymerase chain reaction in the endometrium overlying and remote from the leiomyoma, as similar expression throughout the cavity was a prerequisite for the use of unguided biopsy method.</p></div><div><h3>Results</h3><p>The median weight of the samples was significantly larger when obtained with the low-pressure suction device than with the resectoscope loop (153 vs. 20 mg). The RNA yield was similar (suction curette, 1,625 ng/mg; resectoscope loop, 1,779 ng/mg). The A260-to-A280 ratio was satisfactory for 94.7 % of the samples, with no difference between the groups. The endometrial expression of <em>HOXA10</em> was similar in areas overlying the leiomyoma compared with that in remote endometrial sites (2<sup>−ΔCt</sup> = 0.0224 vs. 0.0225).</p></div><div><h3>Conclusions</h3><p>Low-pressure endometrial suction devices provide tissue samples with acceptable RNA purity and quantity for gene expression studies. The expression of <em>HOXA10</em> did not differ between endometrial sampling sites even in the presence of leiomyomas.</p></div>","PeriodicalId":34409,"journal":{"name":"FS Reports","volume":"5 1","pages":"Pages 72-79"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2666334123001149/pdfft?md5=2b09e1bb3105aebeb50c2fc48dc50e4e&pid=1-s2.0-S2666334123001149-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135764511","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}
引用次数: 0
Clinical outcomes in carriers of insertional translocation: a retrospective analysis of comprehensive chromosome screening results 插入易位携带者的临床结果:染色体全面筛查结果的回顾性分析
FS Reports Pub Date : 2024-03-01 DOI: 10.1016/j.xfre.2023.11.012
Zhiqi Zhang M.A.Sc. , Keli Luo Ph.D. , Senlin Zhang B.S. , Dehua Cheng Ph.D. , Liang Hu Ph.D. , Yue-Qiu Tan Ph.D. , Shuoping Zhang Ph.D. , Fei Gong Ph.D. , Pingyuan Xie Ph.D. , Ge Lin Ph.D.
{"title":"Clinical outcomes in carriers of insertional translocation: a retrospective analysis of comprehensive chromosome screening results","authors":"Zhiqi Zhang M.A.Sc. ,&nbsp;Keli Luo Ph.D. ,&nbsp;Senlin Zhang B.S. ,&nbsp;Dehua Cheng Ph.D. ,&nbsp;Liang Hu Ph.D. ,&nbsp;Yue-Qiu Tan Ph.D. ,&nbsp;Shuoping Zhang Ph.D. ,&nbsp;Fei Gong Ph.D. ,&nbsp;Pingyuan Xie Ph.D. ,&nbsp;Ge Lin Ph.D.","doi":"10.1016/j.xfre.2023.11.012","DOIUrl":"10.1016/j.xfre.2023.11.012","url":null,"abstract":"<div><h3>Objective</h3><p>To evaluate the clinical outcomes in the carriers of insertional translocation (IT).</p></div><div><h3>Design</h3><p>Retrospective case series.</p></div><div><h3>Setting</h3><p>University-affiliated reproductive medical center.</p></div><div><h3>Patients</h3><p>Twenty-three couples with ITs.</p></div><div><h3>Intervention</h3><p>No direct interventions were involved; however, this study included patients who underwent preimplantation genetic testing for structural chromosomal rearrangements (PGT-SR).</p></div><div><h3>Main Outcome Measure</h3><p>Outcome of preimplantation genetic testing for structural chromosomal rearrangements and percentage of blastocysts available for transfer.</p></div><div><h3>Results</h3><p>Among 23 IT carriers, 15 were simple interchromosome ITs (type A), 3 were intrachromosome IT carriers (type B), and 5 were interchromosome IT carriers combined with other translocations (type C). A total of 190 blastocysts from 30 cycles were biopsied, 187 embryos were tested successfully, and only 57 blastocysts (30.5%) from 21 patients were available for transfer (normal or balanced). The unbalanced rearrangement rate of type C was 79.2% (42/53), and the proportion of type A was 50.0% (57/114), which was significantly higher than that of type B (5%, 1/20). In type A, the probability of embryos harboring unbalanced rearrangement in female carriers was 56.0% (51/91), which was higher than that in male carriers (26.1%, 6/23). Furthermore, the haploid autosomal length value of the inserted fragment was correlated linearly with the incidence of abnormal embryos. In type A gametes, most gametes produced by 2:2 separation without crossover, and no 3:1 separation gamete was observed.</p></div><div><h3>Conclusions</h3><p>The chance of identifying normal or balanced and mosaic blastocysts per mature oocytes in patients with ITs are 16.6% (67/404). Greater IT complexity results in fewer transferable embryos. For simple interchromosome ITs, female carriers and those with higher haploid autosomal length values have a higher risk of producing embryos with unbalanced rearrangement.</p></div>","PeriodicalId":34409,"journal":{"name":"FS Reports","volume":"5 1","pages":"Pages 55-62"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2666334123001320/pdfft?md5=7003b840f2f4936c4b47c058c844f21d&pid=1-s2.0-S2666334123001320-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138625052","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}
引用次数: 0
Comparing reproductive outcomes between conventional in vitro fertilization and nonindicated intracytoplasmic sperm injection in autologous embryo transfer cycles: a Society for Assisted Reproductive Technology Clinic Outcome Reporting System Study 比较自体胚胎移植周期中常规体外受精与非指示性卵胞浆内单精子注射的生殖结果:辅助生殖技术协会诊所结果报告系统研究
FS Reports Pub Date : 2024-03-01 DOI: 10.1016/j.xfre.2023.10.004
Julian A. Gingold M.D., Ph.D. , Haotian Wu Ph.D. , Harry Lieman M.D. , Manvinder Singh M.D. , Sangita Jindal Ph.D., H.C.L.D.
{"title":"Comparing reproductive outcomes between conventional in vitro fertilization and nonindicated intracytoplasmic sperm injection in autologous embryo transfer cycles: a Society for Assisted Reproductive Technology Clinic Outcome Reporting System Study","authors":"Julian A. Gingold M.D., Ph.D. ,&nbsp;Haotian Wu Ph.D. ,&nbsp;Harry Lieman M.D. ,&nbsp;Manvinder Singh M.D. ,&nbsp;Sangita Jindal Ph.D., H.C.L.D.","doi":"10.1016/j.xfre.2023.10.004","DOIUrl":"10.1016/j.xfre.2023.10.004","url":null,"abstract":"<div><h3>Objective</h3><p>To compare clinical outcomes between nonindicated intracytoplasmic sperm injection (ICSI) and conventional insemination.</p></div><div><h3>Design</h3><p>Autologous cycles performed from 2014–2017 were identified, excluding frozen oocyte cycles. Outcomes were compared between conventional insemination (in vitro fertilization [IVF]) and nonindiated ICSI and analyzed separately for fresh, frozen-thawed preimplantation genetic testing (PGT) and frozen-thawed non-PGT cycles.</p></div><div><h3>Setting</h3><p>US-based fertility clinics reporting to the Society for Assisted Reproductive Technology.</p></div><div><h3>Participants</h3><p>A total of 187,520 patients underwent 318,930 cycles, 57,516 (18.0%) using conventional IVF and 261,414 ICSI (82.0%).</p></div><div><h3>Interventions</h3><p>Intracytoplasmic sperm injection, with or without indications (male factor, prior fertilization failure or any PGT [2012 recommendations]/single-gene PGT [2020 recommendations]).</p></div><div><h3>Main Outcome Measures</h3><p>Odds ratios (ORs) for live birth rates and clinical pregnancy rates were calculated after multivariable adjustment for maternal age, body mass index, infertility etiologies, prior IVF births, and number oocytes retrieved.</p></div><div><h3>Results</h3><p>Intracytoplasmic sperm injection was indicated in 151,627 (58.0%) of cycles according to 2012 American Society for Reproductive Medicine Practice Committee recommendations, and 108,895 (41.7%) according to 2020 recommendations. In multivariable models, nonindicated ICSI among fresh cycles was associated with reduced odds of completing a blastocyst-stage transfer (OR, 0.72; 95% confidence interval [CI] [0.7, 0.75]; <em>P</em>&lt;.001), resulting in reduced odds of live birth (OR, 0.80; 95% CI [0.78, 0.83]; <em>P</em>&lt;.001). Among completed fresh transfers, clinical pregnancy and live birth rates were comparable between nonindicated ICSI and IVF. Nonindicated ICSI in frozen-thawed cycles with PGT and without PGT was associated with comparable live birth and clinical pregnancy rates with IVF in multivariable models.</p></div><div><h3>Conclusion</h3><p>Nonindicated ICSI was associated with reduced blastocyst availability in fresh cycles compared with IVF, leading to lower live birth rates. Outcomes from completed transfers were clinically comparable.</p></div>","PeriodicalId":34409,"journal":{"name":"FS Reports","volume":"5 1","pages":"Pages 23-32"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S266633412300106X/pdfft?md5=8efab83bfedb5db93db60dda771d41e8&pid=1-s2.0-S266633412300106X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136127485","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}
引用次数: 0
Unraveling biochemical hypogonadism in men with nonobstructive azoospermia: insights, discrepancies, and future avenues 解读非梗阻性无精子症男性的生化性腺功能减退症:见解、差异和未来之路
FS Reports Pub Date : 2024-03-01 DOI: 10.1016/j.xfre.2023.11.011
Edoardo Pozzi M.D., Ranjith Ramasamy M.D.
{"title":"Unraveling biochemical hypogonadism in men with nonobstructive azoospermia: insights, discrepancies, and future avenues","authors":"Edoardo Pozzi M.D.,&nbsp;Ranjith Ramasamy M.D.","doi":"10.1016/j.xfre.2023.11.011","DOIUrl":"10.1016/j.xfre.2023.11.011","url":null,"abstract":"","PeriodicalId":34409,"journal":{"name":"FS Reports","volume":"5 1","pages":"Pages 9-10"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2666334123001319/pdfft?md5=dd793963464b9cb6634fd8442b06eca9&pid=1-s2.0-S2666334123001319-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139295627","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}
引用次数: 0
Neuroendocrine, neurotransmitter, and gut microbiota imbalance contributing to potential psychiatric disorder prevalence in polycystic ovarian syndrome 神经内分泌、神经递质和肠道微生物群失衡导致多囊卵巢综合征潜在的精神障碍发病率
FS Reports Pub Date : 2023-12-01 DOI: 10.1016/j.xfre.2023.08.009
Karis I. Sarkisian , Lananh Ho B.S. , Jane Yang B.A. , Rachel Mandelbaum M.D. , Frank Z. Stanczyk Ph.D.
{"title":"Neuroendocrine, neurotransmitter, and gut microbiota imbalance contributing to potential psychiatric disorder prevalence in polycystic ovarian syndrome","authors":"Karis I. Sarkisian ,&nbsp;Lananh Ho B.S. ,&nbsp;Jane Yang B.A. ,&nbsp;Rachel Mandelbaum M.D. ,&nbsp;Frank Z. Stanczyk Ph.D.","doi":"10.1016/j.xfre.2023.08.009","DOIUrl":"10.1016/j.xfre.2023.08.009","url":null,"abstract":"<div><p>Polycystic ovarian syndrome (PCOS) is the most common endocrine disorder in women, affecting up to 15% of reproductive-aged women. Polycystic ovarian syndrome is a heterogeneous disorder, both in the sense that many different factors may play a role in its manifestation and that multiple systems throughout the body can be affected. Polycystic ovarian syndrome has been linked to an increased prevalence of various psychiatric disorders, including depression and anxiety. Despite the socioeconomic effect that these disorders may have on patients with PCOS and society as a whole, this association is largely lacking in research. There are currently several theories regarding the link between PCOS and mental health. Some suggest that the overactive hypothalamic-pituitary-ovarian and hypothalamic-pituitary-adrenal axes in PCOS patients may alter the hormonal profile and contribute to the development of psychiatric disorders. Other studies speculate that abnormal levels of neurotransmitters and neuronal signaling may play a role. Recently, more research has begun to focus on the gut-brain axis, addressing the nutritional needs of PCOS patients. Studies show that dietary factors such as probiotics and micronutrient supplementation may significantly improve psychiatric symptoms in PCOS patients while helping regulate neurotransmitter levels in the body. In this review, we examine different theories regarding the association between PCOS and psychiatric disorders and point out different areas of research that are needed to broaden our understanding of this association.</p></div>","PeriodicalId":34409,"journal":{"name":"FS Reports","volume":"4 4","pages":"Pages 337-342"},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2666334123001010/pdfft?md5=5938048b5ec051990e5b6200207a0801&pid=1-s2.0-S2666334123001010-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135248995","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}
引用次数: 0
Oocyte cryopreservation in mosaic Turner syndrome with polycystic ovaries 特纳综合征嵌合型多囊卵巢患者的卵母细胞冷冻技术
FS Reports Pub Date : 2023-12-01 DOI: 10.1016/j.xfre.2023.10.001
Anna Sienko B.A. , Alka Prakash M.D. , Jane MacDougall M.D.
{"title":"Oocyte cryopreservation in mosaic Turner syndrome with polycystic ovaries","authors":"Anna Sienko B.A. ,&nbsp;Alka Prakash M.D. ,&nbsp;Jane MacDougall M.D.","doi":"10.1016/j.xfre.2023.10.001","DOIUrl":"10.1016/j.xfre.2023.10.001","url":null,"abstract":"<div><h3>Objective</h3><p>To report a case of a patient with Turner syndrome (TS) mosaicism and polycystic ovarian syndrome (PCOS), who underwent successful ovarian stimulation, oocyte retrieval, and cryopreservation.</p></div><div><h3>Design</h3><p>Case report.</p></div><div><h3>Subject(s)</h3><p>A female patient with mosaic TS (45,X [24%]/46,XX [76%]) and a paternally inherited balanced reciprocal translocation t(2:6) diagnosed with PCOS.</p></div><div><h3>Intervention(s)</h3><p>Controlled ovarian stimulation, oocyte retrieval, and cryopreservation.</p></div><div><h3>Main outcome measure(s)</h3><p>Successful oocyte retrieval and cryopreservation.</p></div><div><h3>Result(s)</h3><p>We report an interesting case of a patient with TS mosaicism 45,X [24%]/46,XX [76%] and a paternally inherited t(2:6) balanced reciprocal translocation, who was diagnosed with PCOS on the basis of oligomenorrhea and ultrasound polycystic ovary morphology (antral follicle count of 17 and &gt;20, left and right ovaries, respectively), underwent 2 cycles of ovarian stimulation, oocyte retrieval, and cryopreservation, resulting in 19 cryopreserved oocytes.</p></div><div><h3>Conclusion(s)</h3><p>Our case highlights the importance of early counseling regarding fertility options in patients with mosaic TS and the need for careful monitoring of ovarian reserve during this process, which could be done by measuring the anti-müllerian hormone or antral follicle count. It also underscores the possibility of women with mosaic TS being affected by PCOS.</p></div>","PeriodicalId":34409,"journal":{"name":"FS Reports","volume":"4 4","pages":"Pages 380-383"},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2666334123001034/pdfft?md5=b112670dd603614b2541678690600752&pid=1-s2.0-S2666334123001034-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135761065","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}
引用次数: 0
Management considerations for clinically relevant findings on expanded carrier screening in a sperm donor applicant population 在精子捐献者申请人群中扩大携带者筛查的临床相关结果的管理注意事项
FS Reports Pub Date : 2023-12-01 DOI: 10.1016/j.xfre.2023.10.005
Lauren Isley M.S., C.G.C., Pamela Callum M.S., C.G.C., Jennifer Luque M.S., C.G.C., Jessica Park M.S., C.G.C., Kara Baldwin M.S., C.G.C.
{"title":"Management considerations for clinically relevant findings on expanded carrier screening in a sperm donor applicant population","authors":"Lauren Isley M.S., C.G.C.,&nbsp;Pamela Callum M.S., C.G.C.,&nbsp;Jennifer Luque M.S., C.G.C.,&nbsp;Jessica Park M.S., C.G.C.,&nbsp;Kara Baldwin M.S., C.G.C.","doi":"10.1016/j.xfre.2023.10.005","DOIUrl":"10.1016/j.xfre.2023.10.005","url":null,"abstract":"<div><h3>Objective</h3><p>To describe the clinical experience of managing expanded carrier screening (ECS) results in sperm donor applicants at a sperm bank in the United States, including considerations around suitability determination and appropriate education of prospective donors and recipients.</p></div><div><h3>Design</h3><p>A retrospective review of donor genetic screening records from July 2017 to December 2021.</p></div><div><h3>Setting</h3><p>A U.S.-based sperm bank.</p></div><div><h3>Patients</h3><p>Donor applicants at a sperm bank.</p></div><div><h3>Intervention</h3><p>Not applicable.</p></div><div><h3>Main Outcome Measures</h3><p>To examine the rate of potentially significant health risks on the basis of ECS results to inform donor management and donor/recipient counseling considerations.</p></div><div><h3>Results</h3><p>Nearly 2% of donor applicants were identified as having potentially significant health risks on the basis of their ECS results, and most individuals had no clinical manifestations related to these findings.</p></div><div><h3>Conclusion</h3><p>There are unique challenges related to ECS in third-party reproduction for gamete providers, recipients, and their healthcare providers. A collaborative, multidisciplinary approach is necessary to help mitigate risks to donor offspring and maximize patient experience. Informed consent and access to a trained genetics professional are paramount when facilitating ECS on donor applicants and disseminating results to recipients.</p></div>","PeriodicalId":34409,"journal":{"name":"FS Reports","volume":"4 4","pages":"Pages 384-389"},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2666334123001071/pdfft?md5=7ff9db40ab133247ad857106f0193679&pid=1-s2.0-S2666334123001071-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135373146","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}
引用次数: 0
Follicular versus luteal stimulation in suboptimal responders: Maybe timing isn’t everything? 次优反应者的卵泡刺激与黄体刺激:也许时机并不重要?
FS Reports Pub Date : 2023-12-01 DOI: 10.1016/j.xfre.2023.08.005
Rachel S. Mandelbaum M.D.
{"title":"Follicular versus luteal stimulation in suboptimal responders: Maybe timing isn’t everything?","authors":"Rachel S. Mandelbaum M.D.","doi":"10.1016/j.xfre.2023.08.005","DOIUrl":"10.1016/j.xfre.2023.08.005","url":null,"abstract":"","PeriodicalId":34409,"journal":{"name":"FS Reports","volume":"4 4","pages":"Page 343"},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2666334123000843/pdfft?md5=209b7634c4a60267f91f15bc944f924f&pid=1-s2.0-S2666334123000843-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"115900478","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}
引用次数: 0
A novel nonsense mutation in the fumarate hydratase gene in a Chinese patient with recurrent leiomyomas 一名中国复发性子宫肌瘤患者富马酸氢化酶基因中的新型无义突变
FS Reports Pub Date : 2023-12-01 DOI: 10.1016/j.xfre.2023.08.007
Yiyin Ruan B.Sc., Weiwei Feng M.D., Ph.D., Chenmin Yang M.D., Ph.D.
{"title":"A novel nonsense mutation in the fumarate hydratase gene in a Chinese patient with recurrent leiomyomas","authors":"Yiyin Ruan B.Sc.,&nbsp;Weiwei Feng M.D., Ph.D.,&nbsp;Chenmin Yang M.D., Ph.D.","doi":"10.1016/j.xfre.2023.08.007","DOIUrl":"10.1016/j.xfre.2023.08.007","url":null,"abstract":"<div><h3>Objective</h3><p>To describe a novel nonsense mutation in the fumarate hydratase (FH) gene in a Chinese patient with recurrent multiple leiomyomas.</p></div><div><h3>Design</h3><p>Case report.</p></div><div><h3>Setting</h3><p>Medical school-affiliated tertiary hospital.</p></div><div><h3>Patient(s)</h3><p>A nulligravida patient aged 30 years with large uterine leiomyomas (ULMs) and severe anemia.</p></div><div><h3>Intervention(s)</h3><p>Clinical evaluation, abdominal myomectomy, targeted next-generation sequencing.</p></div><div><h3>Main outcome measure(s)</h3><p>Fumarate hydratase gene mutation in ULMs.</p></div><div><h3>Result(s)</h3><p>A novel nonsense mutation (c.771T&gt;G) in the <em>FH</em> gene was identified in this patient. This mutation is located in exon 6, which encodes the N-terminal fumarate lyase domain. It leads to a predicted truncated protein with loss of the majority of the lyase domain, resulting in FH deficiency.</p></div><div><h3>Conclusion(s)</h3><p>Because of the recurrent multiple leiomyomas, this patient received 2 myomectomies within 5 years. On immunostaining the leiomyoma, FH deficiency was detected, and targeted next-generation sequencing revealed a novel mutation of the <em>FH</em> gene. This patient was at risk for early disease relapse and developing renal cancer, and close disease monitoring is recommended. Meanwhile, the expanded mutation database should benefit patients in diagnosing <em>FH</em> gene-associated ULMs.</p></div>","PeriodicalId":34409,"journal":{"name":"FS Reports","volume":"4 4","pages":"Pages 410-415"},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2666334123000867/pdfft?md5=d6cbee60c36c09ad7b1559ea0f65677b&pid=1-s2.0-S2666334123000867-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127072952","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}
引用次数: 0
Is preimplantation genetic testing for aneuploidy (PGT-A) getting better? How can we know and how do we counsel our patients? 非整倍体植入前基因检测 (PGT-A) 是否越来越好?我们如何才能知道,又该如何为患者提供咨询?
FS Reports Pub Date : 2023-12-01 DOI: 10.1016/j.xfre.2023.11.002
Richard J. Paulson M.D., M.S.
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