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Assessment of Cinnamaldehyde's Potency on Heat Stress-induced Testicular Impairments in Wistar Rats. 肉桂醛对热应激诱发的 Wistar 大鼠睾丸损伤的功效评估
Q2 Medicine Pub Date : 2024-04-01 Epub Date: 2024-05-28 DOI: 10.4103/jhrs.jhrs_27_24
Pazhanisankar Muthusamy, Dapkupar Wankhar, Jeyakumari Paul, Nivetha Ravishankar, Ravindran Rajan

Background: Male sterility results from high testicular temperatures, which affect mammalian spermatogenesis. High testicular temperatures affect sperm motility, morphology and fertility according to their magnitude and duration.

Aim: The aim of the current study is to examine the effects of heat-induced oxidative stress and cinnamaldehyde on Wistar rat testicular structure and function.

Settings and design: The rats used in this experiment were Wistar albino rats.

Materials and methods: This research has six animals per group. Male Wistar albino rats of 2.5-3 months old and 275-300 g. (I) control, (II) heat stress (HS) in a closed chamber at 41°C for 14 days and (III) HS with cinnamaldehyde (CA) 50 mg/kg body weight for 14 days. (IV) CA alone. After the study, the animals were euthanised, and test samples were taken for sperm count, morphology, haematoxylin and eosin stain for normal cellular morphology, antioxidants and DNA integrity assessments.

Statistical analysis used: The data were analysed statistically using one- and two-way ANOVA tests for comparisons between groups.

Results: The stress group had significantly lower sperm counts and poor sperm morphology. The stress group's antioxidant capacity is much lower than that of the control group. Animals under stress have fragmented DNA. Treatment with cinnamaldehyde increased overall antioxidant capacity and seminal parameters, and rats behaved most like controls.

Conclusion: CA restores malondialdehyde levels, total antioxidant capacity, sperm characteristics and mitigates testicular damage in rats exposed to experimental HS.

背景:睾丸温度过高会影响哺乳动物的精子发生,从而导致男性不育。目的:本研究旨在探讨热诱导的氧化应激和肉桂醛对 Wistar 大鼠睾丸结构和功能的影响:本实验使用的大鼠为 Wistar 白化大鼠:本研究每组6只动物。雄性 Wistar 白化大鼠,2.5-3 个月大,体重 275-300g。(I) 对照组;(II) 热应激(HS)组,在 41°C 的密闭室中饲养 14 天;(III) HS 加肉桂醛(CA)50 mg/kg 体重,饲养 14 天。(IV) 单独使用 CA。研究结束后,对动物实施安乐死,并取样进行精子计数、形态学、正常细胞形态的血红素和伊红染色、抗氧化剂和 DNA 完整性评估:采用单因素和双因素方差分析对数据进行统计分析,以进行组间比较:结果:应激组的精子数量明显较少,精子形态也较差。应激组的抗氧化能力远远低于对照组。处于应激状态下的动物的 DNA 会支离破碎。肉桂醛治疗可提高整体抗氧化能力和精液参数,大鼠的表现最像对照组:结论:肉桂醛可恢复受实验性 HS 影响的大鼠的丙二醛水平、总抗氧化能力、精子特征,并减轻睾丸损伤。
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引用次数: 0
Serum Zinc Levels in Women with Polycystic Ovarian Syndrome are Lower as Compared to Those without Polycystic Ovarian Syndrome: A Cohort Study. 多囊卵巢综合征妇女的血清锌水平低于非多囊卵巢综合征妇女:一项队列研究。
Q2 Medicine Pub Date : 2024-04-01 Epub Date: 2024-06-28 DOI: 10.4103/jhrs.jhrs_81_24
Swati Dhar, Reena Yadav, Akash Tomar
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引用次数: 0
Serum Zinc Levels in Women with Polycystic Ovarian Syndrome Are Lower as Compared to Those without Polycystic Ovarian Syndrome: A Cohort Study. 多囊卵巢综合征妇女的血清锌水平低于非多囊卵巢综合征妇女:一项队列研究。
Q2 Medicine Pub Date : 2024-04-01 Epub Date: 2024-06-10 DOI: 10.4103/jhrs.jhrs_61_24
Mahmood Dhahir Al-Mendalawi
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引用次数: 0
Magnetic Resonance Imaging Evaluation of Wolffian Duct Anomalies - OHVIRA and OSVIRA. 沃尔夫导管异常的磁共振成像评估--OHVIRA 和 OSVIRA。
Q2 Medicine Pub Date : 2024-04-01 Epub Date: 2024-05-28 DOI: 10.4103/jhrs.jhrs_19_24
Lukshay Bansal, Suryansh Arora, Akhila Prasad

Herlyn-Werner-Wunderlich syndrome in females, also known as obstructed haemivagina and ipsilateral renal agenesis (OHVIRA), and Zinner's syndrome, also known as OSVIRA in males, are two rare congenital syndromes affecting the urogenital tract. OHVIRA is obstructed haemivagina and ipsilateral renal agenesis and OSVIRA abbreviation stands for obstructed seminal vesicle and ipsilateral renal agenesis. For a long, these syndromes were considered different entities, owing to our poor understanding of underlying embryopathogenesis; however, in light of the recent acceptance of the Wolffian origin of the vagina in its entirety, these two syndromes are considered to be cut from the same cloth. In this case series, we present magnetic resonance imaging features of two cases each of OHVIRA and OSVIRA and discuss the similarities in embryopathogenesis behind them while debunking the old concepts. A deep understanding of embryopathogenesis allows a clinician and radiologist to predict the disease manifestation, and its outcome and also acts as a guide to screen for potential subtle defects, which would otherwise have been missed.

Herlyn-Werner-Wunderlich 综合征(女性)又称阻塞性阴道和同侧肾发育不全(OHVIRA),Zinner's 综合征(男性)又称 OSVIRA,是两种罕见的影响泌尿生殖道的先天性综合征。OHVIRA是血道阻塞和同侧肾发育不全的缩写,OSVIRA是精囊阻塞和同侧肾发育不全的缩写。长期以来,由于我们对潜在的胚胎发病机制了解甚少,这两种综合征被认为是不同的实体;然而,鉴于最近人们接受了阴道的整体沃尔夫起源,这两种综合征被认为是从同一块布上剪下来的。在本病例系列中,我们分别介绍了两例 OHVIRA 和 OSVIRA 的磁共振成像特征,并讨论了它们背后胚胎发病机制的相似之处,同时驳斥了旧观念。对胚胎发病机制的深刻理解可以让临床医生和放射科医生预测疾病的表现和结果,还可以指导筛查潜在的细微缺陷,否则这些缺陷可能会被漏诊。
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引用次数: 0
Editorial Commentary. 社论评论。
Q2 Medicine Pub Date : 2024-04-01 Epub Date: 2024-06-28 DOI: 10.4103/jhrs.jhrs_98_24
Mohan S Kamath
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引用次数: 0
Association between Polycystic Ovarian Syndrome, Impaired Kidney Function and Hyperuricaemia: A Systematic Review and Meta-analysis. 多囊卵巢综合征、肾功能受损与高尿酸血症之间的关系:系统回顾与元分析》。
Q2 Medicine Pub Date : 2024-04-01 Epub Date: 2024-05-28 DOI: 10.4103/jhrs.jhrs_31_24
Nicolas Daniel Widjanarko, Archie Fontana Iskandar, Felicia Grizelda Suryatenggara, Rosalia Sylfiasari, Leonardo Leonardo

Background: Polycystic ovarian syndrome (PCOS) is a gynaecological problem affecting women within reproductive age, accompanied by several metabolic anomalies, thus leading to alteration in kidney function and hyperuricaemia. Due to the high prevalence of cardiometabolic factors in PCOS, there is a need to anticipate an increased number of kidney impairments amongst these women.

Objectives: This review aims to investigate the potential link between PCOS, impaired kidney function, and elevated uric acid levels. By elucidating this association, we hope to provide clinicians with a tool to stratify the risk of kidney disease in women diagnosed with PCOS, based on readily available kidney function parameters.

Materials and methods: The recommendations used for the analysis were outlined in the Preferred Reporting Items for Systematic Reviews and Meta-Analyses 2020 guidelines. Subsequently, eligible studies were identified using several databases (MEDLINE, ProQuest and EBSCOhost) between 1996 and 2022, with a total of 13 studies included. Serum uric acid, serum creatinine, as well as estimated glomerular filtration rate (eGFR) were evaluated as the outcome of interest. Quality assessment for cohort, case-control and cross-sectional studies was conducted utilising the Newcastle-Ottawa Scale, while Review Manager 5.4 was utilised for meta-analysis.

Results: Uric acid was significantly higher in women with PCOS (mean difference [MD] = 0.70, 95% confidence interval [CI] [0.45-0.95], P < 0.00001). Meanwhile, serum creatinine and eGFR were statistically similar in each group (MD = 0.08, 95% CI [-0.05-0.21], P = 0.22 and MD = 3.54, 95% CI [-4.53-11.61], P = 0.39, respectively).

Interpretation: This review showed that PCOS was significantly associated with elevated uric acid. However, no significant difference was found between eGFR and creatinine levels compared to healthy controls. Routine uric acid assessment in PCOS patients is recommended as a simple tool for risk stratification.

Limitations: No body mass index (BMI) subgroup analysis was done due to limited BMI reporting in our included studies. Quantitative analysis of all kidney function parameters was also limited by sparse data on urea and albumin.

Prospero registration number: CRD42023410092 (02 April 2023).

背景:多囊卵巢综合征(PCOS)是一种影响育龄妇女的妇科疾病,伴有多种代谢异常,从而导致肾功能改变和高尿酸血症。由于多囊卵巢综合征中心脏代谢因素的发病率很高,因此有必要预测这些妇女中肾功能受损的人数会增加:本综述旨在研究多囊卵巢综合症、肾功能受损和尿酸水平升高之间的潜在联系。通过阐明这种关联,我们希望为临床医生提供一种工具,以便根据现成的肾功能参数对确诊为多囊卵巢综合征的女性患肾病的风险进行分层:用于分析的建议在《2020 年系统综述和荟萃分析首选报告项目》指南中有所概述。随后,使用多个数据库(MEDLINE、ProQuest 和 EBSCOhost)对 1996 年至 2022 年间符合条件的研究进行了鉴定,共纳入 13 项研究。血清尿酸、血清肌酐以及估计肾小球滤过率(eGFR)均作为研究结果进行评估。使用纽卡斯尔-渥太华量表对队列研究、病例对照研究和横断面研究进行了质量评估,并使用Review Manager 5.4进行了荟萃分析:患有多囊卵巢综合征的女性尿酸明显更高(平均差 [MD] = 0.70,95% 置信区间 [CI] [0.45-0.95],P < 0.00001)。同时,各组血清肌酐和 eGFR 在统计学上相似(分别为 MD = 0.08,95% CI [-0.05-0.21],P = 0.22 和 MD = 3.54,95% CI [-4.53-11.61],P = 0.39):本综述显示,多囊卵巢综合征与尿酸升高有显著相关性。然而,与健康对照组相比,eGFR 和肌酐水平并无明显差异。建议对多囊卵巢综合征患者进行常规尿酸评估,作为风险分层的简单工具:局限性:由于纳入研究的体重指数(BMI)报告有限,因此未进行亚组分析。由于尿素和白蛋白的数据稀少,所有肾功能参数的定量分析也受到限制:CRD42023410092(2023 年 4 月 2 日)。
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引用次数: 0
Identification of Key Genes Associated with Polycystic Ovarian Syndrome and Endometrial and Ovarian Cancer through Bioinformatics. 通过生物信息学鉴定与多囊卵巢综合征及子宫内膜癌和卵巢癌相关的关键基因。
Q2 Medicine Pub Date : 2024-04-01 Epub Date: 2024-06-28 DOI: 10.4103/jhrs.jhrs_44_24
Karishma Raulo, Sahar Qazi

Background: Polycystic ovary syndrome (PCOS), a common endocrine disorder, is linked to increased risks of endometrial cancer (EC) and ovarian cancer (OC). Our study utilises bioinformatics analysis to identify shared gene signatures and elucidate biological processes between EC and OC and PCOS.

Aim: The objective of this research is to unveil the common molecular landscape shared by PCOS and EC and OC.

Settings and design: An observational computational bioinformatics analysis.

Materials and methods: Gene expression profiles for PCOS (GSE199225), EC (GSE215413) and OC (GSE174670) were obtained from the Gene Expression Omnibus database. Hub genes were identified through functional enrichment analysis and protein-protein interaction. Drug identification analyses were employed to find drugs targeting the hub genes.

Results: Key hub genes linking PCOS and EC includes RECQL4, RAD54L, ATR, CHTF18, WDHD1, CDT1, PLK1, PKMYT1, RAD18 and RPL3; for PCOS and OC, they include HMOX1, TXNRD1, NQO1, GCLC, GSTP1, PRDX1, SOD1, GPX3, BOP1 and BYSL. Gene Ontology analysis revealed DNA metabolic process in PCOS and EC, while in PCOS and OC, it identified the removal of superoxide radicals. Kyoto Encyclopaedia of Genes and Genomes pathway analysis highlighted cell cycle in PCOS and EC and hepatocellular carcinoma in PCOS and OC. Potential drugs for PCOS and EC include quercetin, calcitriol and testosterone; for PCOS and OC, eugenol and 1-chloro-2,4-dinitrobenzene are identified.

Conclusion: These findings offer insights into potential therapeutic targets and pathways linking PCOS with EC and OC, enhancing our understanding of the molecular mechanisms involved in these associations.

背景:多囊卵巢综合征(PCOS)是一种常见的内分泌失调症,与子宫内膜癌(EC)和卵巢癌(OC)风险增加有关。我们的研究利用生物信息学分析来确定EC和OC与多囊卵巢综合征之间共有的基因特征并阐明其生物学过程。目的:本研究的目的是揭示多囊卵巢综合征与EC和OC之间共有的分子图谱:观察性计算生物信息学分析:从基因表达总库数据库中获取 PCOS(GSE199225)、EC(GSE215413)和 OC(GSE174670)的基因表达谱。通过功能富集分析和蛋白-蛋白相互作用确定了枢纽基因。通过药物鉴定分析找到了针对枢纽基因的药物:PCOS和EC的关键枢纽基因包括RECQL4、RAD54L、ATR、CHTF18、WDHD1、CDT1、PLK1、PKMYT1、RAD18和RPL3;PCOS和OC的关键枢纽基因包括HMOX1、TXNRD1、NQO1、GCLC、GSTP1、PRDX1、SOD1、GPX3、BOP1和BYSL。基因本体分析揭示了多囊卵巢综合征和卵巢癌患者的 DNA 代谢过程,而在多囊卵巢综合征和卵巢癌患者中,基因本体分析确定了超氧自由基的清除过程。京都基因和基因组百科全书》途径分析突出显示了多囊卵巢综合征和卵巢癌中的细胞周期,以及多囊卵巢综合征和卵巢癌中的肝细胞癌。治疗 PCOS 和 EC 的潜在药物包括槲皮素、钙三醇和睾酮;治疗 PCOS 和 OC 的药物包括丁香酚和 1-氯-2,4-二硝基苯:这些发现为潜在的治疗靶点以及将多囊卵巢综合症与卵巢癌和卵巢癌联系起来的途径提供了见解,加深了我们对这些关联所涉及的分子机制的理解。
{"title":"Identification of Key Genes Associated with Polycystic Ovarian Syndrome and Endometrial and Ovarian Cancer through Bioinformatics.","authors":"Karishma Raulo, Sahar Qazi","doi":"10.4103/jhrs.jhrs_44_24","DOIUrl":"10.4103/jhrs.jhrs_44_24","url":null,"abstract":"<p><strong>Background: </strong>Polycystic ovary syndrome (PCOS), a common endocrine disorder, is linked to increased risks of endometrial cancer (EC) and ovarian cancer (OC). Our study utilises bioinformatics analysis to identify shared gene signatures and elucidate biological processes between EC and OC and PCOS.</p><p><strong>Aim: </strong>The objective of this research is to unveil the common molecular landscape shared by PCOS and EC and OC.</p><p><strong>Settings and design: </strong>An observational computational bioinformatics analysis.</p><p><strong>Materials and methods: </strong>Gene expression profiles for PCOS (GSE199225), EC (GSE215413) and OC (GSE174670) were obtained from the Gene Expression Omnibus database. Hub genes were identified through functional enrichment analysis and protein-protein interaction. Drug identification analyses were employed to find drugs targeting the hub genes.</p><p><strong>Results: </strong>Key hub genes linking PCOS and EC includes <i>RECQL4, RAD54L, ATR, CHTF18, WDHD1, CDT1, PLK1, PKMYT1, RAD18</i> and <i>RPL3</i>; for PCOS and OC, they include <i>HMOX1, TXNRD1, NQO1, GCLC, GSTP1, PRDX1, SOD1, GPX3, BOP1</i> and <i>BYSL</i>. Gene Ontology analysis revealed DNA metabolic process in PCOS and EC, while in PCOS and OC, it identified the removal of superoxide radicals. Kyoto Encyclopaedia of Genes and Genomes pathway analysis highlighted cell cycle in PCOS and EC and hepatocellular carcinoma in PCOS and OC. Potential drugs for PCOS and EC include quercetin, calcitriol and testosterone; for PCOS and OC, eugenol and 1-chloro-2,4-dinitrobenzene are identified.</p><p><strong>Conclusion: </strong>These findings offer insights into potential therapeutic targets and pathways linking PCOS with EC and OC, enhancing our understanding of the molecular mechanisms involved in these associations.</p>","PeriodicalId":15975,"journal":{"name":"Journal of Human Reproductive Sciences","volume":"17 2","pages":"81-93"},"PeriodicalIF":0.0,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11290717/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141875044","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
Best Practice Recommendations for Infertility Management 不孕症管理最佳实践建议
Q2 Medicine Pub Date : 2024-02-01 DOI: 10.4103/jhrs.jhrs_isar_ifs
Jaideep Malhotra, M. Gouri Devi, Madhuri Patil
The objective of this document is to provide guidance to the infertility specialist, gynecologist, embryologist, and counselors on the management of sub-fertility and brief them with the recent advances in the field. These recommendations will aid the aforementioned healthcare professionals in everyday clinical decisions about appropriate and effective care of their patients with the best available evidence. Extensive deliberations, discussion, and brainstorming was done between different reproductive medicine (RM) specialists, to develop the recommendations. A systematic review of the literature published up to June 2019 was carried out using PubMed and Cochrane Collaboration Library. International guidelines, cohort studies, case series, observational studies, and randomized controlled trials currently available in the literature were reviewed. Indian data whatever available was also reviewed. Primary meetings were held with leading reproductive medicine specialists. Each topic was brainstormed on by a group of reproductive medicine experts, who then prepared the first draft of the recommendation. These recommendations then were reviewed by Dr. Jaideep Malhotra, Dr. Gouri Devi, and Dr. Madhuri Patil along with the chief co-ordinator of each consensus to finalize the final draft. From the literature and discussion of the available evidence, several topics were identified for which evidence is inconsistent, insufficient, or non-existing. For the benefit of couples undergoing several treatments, the working committee recommends that future research, where possible in well–designed RCTs, will help in establishing evidence for a particular practice. In the Indian context, one also needs to take into consideration facilities and options available, cost, lack of insurance coverage, experimental nature of some advanced techniques used.
本文件旨在为不孕不育专科医生、妇科医生、胚胎学家和咨询师提供有关亚不孕症治疗的指导,并向他们介绍该领域的最新进展。这些建议将有助于上述专业医护人员在日常临床决策中,以现有的最佳证据为患者提供适当、有效的治疗。 为了制定这些建议,不同的生殖医学(RM)专家进行了广泛的审议、讨论和集思广益。 我们使用 PubMed 和 Cochrane 协作图书馆对截至 2019 年 6 月发表的文献进行了系统性回顾。对文献中现有的国际指南、队列研究、病例系列、观察性研究和随机对照试验进行了审查。此外,还查阅了印度的现有数据。 与主要生殖医学专家举行了初级会议。生殖医学专家小组对每个主题进行了集思广益的讨论,然后起草了建议初稿。然后,Jaideep Malhotra 博士、Gouri Devi 博士、Madhuri Patil 博士以及各共识的首席协调人对这些建议进行审查,最后确定最终草案。 根据文献和对现有证据的讨论,确定了几个证据不一致、不充分或不存在的主题。为使接受多种治疗的夫妇受益,工作委员会建议,今后的研究(如有可能,进行精心设计的 RCT 研究)将有助于为特定实践确立证据。在印度,人们还需要考虑到现有的设施和选择、费用、缺乏保险以及某些先进技术的实验性质。
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引用次数: 0
Best Practice Recommendations for Infertility Management 不孕症管理最佳实践建议
Q2 Medicine Pub Date : 2024-02-01 DOI: 10.4103/jhrs.jhrs_isar_ifs
Jaideep Malhotra, M. Gouri Devi, Madhuri Patil
The objective of this document is to provide guidance to the infertility specialist, gynecologist, embryologist, and counselors on the management of sub-fertility and brief them with the recent advances in the field. These recommendations will aid the aforementioned healthcare professionals in everyday clinical decisions about appropriate and effective care of their patients with the best available evidence. Extensive deliberations, discussion, and brainstorming was done between different reproductive medicine (RM) specialists, to develop the recommendations. A systematic review of the literature published up to June 2019 was carried out using PubMed and Cochrane Collaboration Library. International guidelines, cohort studies, case series, observational studies, and randomized controlled trials currently available in the literature were reviewed. Indian data whatever available was also reviewed. Primary meetings were held with leading reproductive medicine specialists. Each topic was brainstormed on by a group of reproductive medicine experts, who then prepared the first draft of the recommendation. These recommendations then were reviewed by Dr. Jaideep Malhotra, Dr. Gouri Devi, and Dr. Madhuri Patil along with the chief co-ordinator of each consensus to finalize the final draft. From the literature and discussion of the available evidence, several topics were identified for which evidence is inconsistent, insufficient, or non-existing. For the benefit of couples undergoing several treatments, the working committee recommends that future research, where possible in well–designed RCTs, will help in establishing evidence for a particular practice. In the Indian context, one also needs to take into consideration facilities and options available, cost, lack of insurance coverage, experimental nature of some advanced techniques used.
本文件旨在为不孕不育专科医生、妇科医生、胚胎学家和咨询师提供有关亚不孕症治疗的指导,并向他们介绍该领域的最新进展。这些建议将有助于上述专业医护人员在日常临床决策中,以现有的最佳证据为患者提供适当、有效的治疗。 为了制定这些建议,不同的生殖医学(RM)专家进行了广泛的审议、讨论和集思广益。 我们使用 PubMed 和 Cochrane 协作图书馆对截至 2019 年 6 月发表的文献进行了系统性回顾。对文献中现有的国际指南、队列研究、病例系列、观察性研究和随机对照试验进行了审查。此外,还查阅了印度的现有数据。 与主要生殖医学专家举行了初级会议。生殖医学专家小组对每个主题进行了集思广益的讨论,然后起草了建议初稿。然后,Jaideep Malhotra 博士、Gouri Devi 博士、Madhuri Patil 博士以及各共识的首席协调人对这些建议进行审查,最后确定最终草案。 根据文献和对现有证据的讨论,确定了几个证据不一致、不充分或不存在的主题。为使接受多种治疗的夫妇受益,工作委员会建议,今后的研究(如有可能,进行精心设计的 RCT 研究)将有助于为特定实践确立证据。在印度,人们还需要考虑到现有的设施和选择、费用、缺乏保险以及某些先进技术的实验性质。
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引用次数: 0
Decoding the Genetics of Recurrent Molar Pregnancy. 解码复发性臼齿妊娠的遗传学。
Q2 Medicine Pub Date : 2024-01-01 Epub Date: 2024-03-28 DOI: 10.4103/jhrs.jhrs_121_23
Sumita Mehta, Sunita Bijarnia Mahay, Abhishek Satapathy, Kiran Arora

Hydatidiform mole is a condition characterised by abnormal trophoblastic hyperplasia and failure of embryonic tissue development. The risk of recurrence is seen to be associated with biallelic maternal mutations in NLRP7, KHDC3 L and PAD16 genes. Women with such mutations have a major risk of reproductive failure and normal pregnancy is seen in only 1.8%. We report the case of a 31-year-old woman with previous three molar pregnancies who on genetic testing was found to be compound heterozygous for pathogenic variants in the NLRP7 gene (c.2738A>G and c.2078G>C). Accordingly, the woman was counselled regarding assisted reproduction with oocyte donation for a normal pregnancy outcome. At present, the patient has an ongoing 5-month pregnancy through oocyte donation.

水样痣是一种以滋养细胞异常增生和胚胎组织发育失败为特征的疾病。复发风险与母体 NLRP7、KHDC3 L 和 PAD16 基因的双倍突变有关。有这种基因突变的妇女很有可能生育失败,只有 1.8% 的妇女能正常怀孕。我们报告了一例 31 岁女性的病例,该女性曾三次妊娠,在基因检测中发现她是 NLRP7 基因致病变异(c.2738A>G 和 c.2078G>C)的复合杂合子。因此,该妇女接受了卵母细胞捐献辅助生殖咨询,以获得正常的妊娠结果。目前,通过卵母细胞捐献,患者已怀孕 5 个月。
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引用次数: 0
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Journal of Human Reproductive Sciences
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