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Estimation of Serum and Seminal Plasma Levels of Glactin-1 in Non-Obstructive Azoospermia Cases and Their Correlations with the Rate of Sperm Retrieval: A Comparative Prospective Study. 非阻塞性无精子症患者血清和精浆Glactin-1水平的测定及其与精子恢复率的相关性:一项比较前瞻性研究
Q2 Medicine Pub Date : 2022-10-01 DOI: 10.18502/jri.v23i4.10810
Sameh Fayek GamalEl Din, Khadiga Abougabal, Hany Mohammed Saad, Mohamed Shokr Mohamed, Amira Mahmoud Mohamed Ali, Ahmed Abo Sief

Background: Remarkably, the current study is one of the first to deploy galectin-1 (Gal-1) in determining the degree of impairment of spermatogenesis among cases with non-obstructive azoospermia (NOA) as well as utilizing it as a biomarker to predict the rate of sperm retrieval in these patients. The purpose of the study was to evaluate the seminal plasma and serum levels of Gal-1 in NOA patients as well as their correlations with Johnsen's tubular biopsy scoring (JTBS).

Methods: The current case control study included totally 48 patients with NOA whose ages ranged from 24 to 46 years old and 50 age matched healthy controls. Gal-1 levels were measured in both seminal plasma and serum of all subjects by the enzyme-linked immunosorbent assay (ELISA).

Results: A significant negative correlation between seminal plasma levels of Gal-1 and JTBS was detected (r= -0.281, p=0.048) in the NOA cases. Interestingly, the receiver operating characteristic (ROC) curve had demonstrated that the cutoff value of seminal plasma levels of Gal-1 in determining azoospermia was >0.735 ng/ml and the area under the curve (AUC) was 0.858. The sensitivity, specificity, positive predictive, and negative predictive values for seminal plasma levels of Gal-1 were 76, 92, 90.5, and 79.3, respectively. In addition, sensitivity, specificity, positive predictive, and negative predictive values for serum levels of Gal-1 were 38, 66, 52.8, and 51.6, respectively.

Conclusion: Seminal plasma levels of Gal-1 are higher in NOA men versus healthy controls. Interestingly, negative correlation of seminal plasma levels of Gal-1 with JTBS was determined. Thus, it can be used as a good predictor for NOA cases.

背景:值得注意的是,目前的研究是首次使用半乳糖凝集素-1 (Gal-1)来确定非阻塞性无精子症(NOA)患者精子发生障碍的程度,并将其作为预测这些患者精子恢复率的生物标志物之一。本研究的目的是评估NOA患者精浆和血清中Gal-1的水平及其与约翰森肾小管活检评分(JTBS)的相关性。方法:本病例对照研究共纳入48例NOA患者,年龄在24 ~ 46岁之间,50岁为健康对照。采用酶联免疫吸附试验(ELISA)测定所有受试者精浆和血清中Gal-1水平。结果:NOA患者精浆Gal-1水平与JTBS呈显著负相关(r= -0.281, p=0.048)。有趣的是,受试者工作特征(ROC)曲线显示,精浆中Gal-1水平判断无精子症的临界值>0.735 ng/ml,曲线下面积(AUC)为0.858。精浆Gal-1水平的敏感性、特异性、阳性预测值和阴性预测值分别为76、92、90.5和79.3。此外,血清Gal-1水平的敏感性、特异性、阳性预测值和阴性预测值分别为38、66、52.8和51.6。结论:NOA男性精浆Gal-1水平高于健康对照组。有趣的是,精浆Gal-1水平与JTBS呈负相关。因此,它可以作为NOA病例的一个很好的预测器。
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引用次数: 1
The Diagnostic Accuracy of Galectin-9 for Diagnosis of Endometriosis in Comparison with Laparoscopy. 与腹腔镜检查相比,Galectin-9 对子宫内膜异位症的诊断准确性。
Q2 Medicine Pub Date : 2022-10-01 DOI: 10.18502/jri.v23i4.10812
Sahar Jarollahi, Shahla Chaichian, Ali Jarollahi, Roya Hajmohammadi, Reza Mashayekhi, Fereshteh Shahmohammadi, Mohammad Eslamivaghar, Ziba Ghasemi

Background: Endometriosis is a common devastating gynecological disease with severe complications. Researches on noninvasive diagnostic tests with acceptable accuracy are still ongoing. The purpose of the present study was to evaluate the diagnostic value of serum Galectin-9 (Gal-9) level in comparison with laparoscopic results in endometriosis patients.

Methods: Sixty-one patients, referred to Booali, Rasool-e-Akram, and Pars Hospitals affiliated to Islamic Azad University of Medical Sciences, were recruited. Patients laparoscopically diagnosed with endometriosis were assigned to the case (n=32) and who diagnosed with other diseases were assigned to the control group (n=29). In general, 56 patients (30 in case and 26 in control group) completed the study. The serum level of Galectin-9 was measured using ELISA method before laparoscopy and was compared between the groups. Next, categorical variables were compared using Chi square and quantitative variables using independent samples t- test or Mann-Whitney U test. The Gal-9 cut-off was calculated using the Youden's index and ROC curve; then, sensitivity, specificity, positive and negative predictive value, and positive and negative likelihood ratio of Gal-9 were reported. The p<0.05 were considered statistically significant.

Results: Mean serum level of Galectin-9 was 669.3±416.50 pg/ml in the case group and 265.42±492.30 pg/ml in the control group (p=0.001). Considering a cut-off value of 138 pg/ml, Galectin-9 had a sensitivity of 100% and specificity of 88.46% for diagnosis of endometriosis (p<0.001).

Conclusion: Galectin-9 measurement is helpful in diagnosis of endometriosis. Future studies are recommended for investigating the generalizability of these results.

背景:子宫内膜异位症是一种常见的破坏性妇科疾病,具有严重的并发症。有关准确性可接受的非侵入性诊断测试的研究仍在进行中。本研究的目的是评估血清 Galectin-9 (Gal-9) 水平与腹腔镜检查结果在子宫内膜异位症患者中的诊断价值:方法:研究人员招募了61名患者,分别转诊至伊斯兰阿扎德医科大学附属Booali医院、Rasool-e-Akram医院和Pars医院。经腹腔镜确诊为子宫内膜异位症的患者被分配到病例组(32 人),确诊为其他疾病的患者被分配到对照组(29 人)。总共有 56 名患者(病例组 30 人,对照组 26 人)完成了研究。在腹腔镜手术前,采用 ELISA 方法测量了血清中 Galectin-9 的水平,并在两组之间进行了比较。然后,使用卡方检验比较分类变量,使用独立样本 t 检验或 Mann-Whitney U 检验比较定量变量。利用尤登指数和 ROC 曲线计算 Gal-9 临界值,然后报告 Gal-9 的敏感性、特异性、阳性和阴性预测值以及阳性和阴性似然比。结果病例组 Galectin-9 的平均血清水平为 669.3±416.50 pg/ml,对照组为 265.42±492.30 pg/ml(P=0.001)。考虑到临界值为 138 pg/ml,Galectin-9 对子宫内膜异位症诊断的敏感性为 100%,特异性为 88.46%(p 结论:Galectin-9 测量有助于子宫内膜异位症的诊断:Galectin-9 测量有助于诊断子宫内膜异位症。建议今后对这些结果的推广性进行研究。
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引用次数: 0
Apparent Homozygosity for a gr/gr AZFc Deletion in A 47,XYY Man with Oligozoospermia and Secondary Infertility. 少精症和继发性不孕症的a47xyy男性AZFc缺失的明显纯合性
Q2 Medicine Pub Date : 2022-10-01 DOI: 10.18502/jri.v23i4.10816
David J Bunyan, Mili Saran, James I Hobbs, David J Anderson, Philippa J Duncan-Flavell, Rachel J Howarth, Jonathan L A Callaway, James N MacPherson

Background: Approximately 1 in 1000 men have a 47,XYY karyotype. Previous publications have presented cases of infertile XYY men and have suggested that the additional Y chromosome may cause disrupted meiosis leading to sperm apoptosis. The purpose of the current study was to determine whether XYY men are over-represented in infertility cohorts.

Methods: In this paper, an ongoing infertility cohort was evaluated for Y chromosome microdeletions using the MLPA technique and the data from the first 2000 referrals were recorded. Moreover, the MLPA technique detected 47,XYY karyotypes.

Results: Four XYY individuals were identified within the cohort. One of the four XYY men was shown to have an apparent gr/gr partial AZFc deletion on both Y chromosomes while Sertoli cell only syndrome was detected in another case. The other two cases (out of 2000) might, therefore, represent an incidental finding.

Conclusion: The gr/gr deletion is not detectable by the multiplex PCR method; therefore, there might be additional explanations for the fertility problems of infertile XYY men reported in previously published articles. It seems that among other cases, their XYY karyotype may be coincidental, rather than causative of their fertility issues.

背景:大约每1000名男性中就有1人拥有47,xyy核型。以前的出版物已经介绍了不育的XYY男性的病例,并表明额外的Y染色体可能导致减数分裂中断,导致精子凋亡。当前研究的目的是确定XYY男性在不育队列中是否过度代表。方法:在本文中,使用MLPA技术对正在进行的不孕症队列进行Y染色体微缺失评估,并记录了前2000名转诊患者的数据。此外,MLPA技术检测到47,xyy核型。结果:在队列中确定了4个XYY个体。四名XYY男性中的一名在两条Y染色体上都有明显的gr/gr部分AZFc缺失,而在另一例中检测到仅Sertoli细胞综合征。因此,2000年中的另外两个案例可能只是偶然发现。结论:多重PCR法检测不到gr/gr缺失;因此,以前发表的文章中报道的XYY不育男性的生育问题可能有其他解释。在其他情况下,他们的XYY核型可能是巧合,而不是导致他们生育问题的原因。
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引用次数: 0
Testicular Sperm Extraction and Intracytoplasmic Sperm Injection in Management of Obstructive Azoospermia: A Two-Year Multicenter Review in Ghana. 睾丸精子提取和卵浆内单精子注射治疗梗阻性无精子症:加纳两年多中心综述。
Q2 Medicine Pub Date : 2022-10-01 DOI: 10.18502/jri.v23i4.10811
Promise E Sefogah, Alim Swarray-Deen, Edem K Hiadzi, Rudolph K Adageba, Nana Essuman Oduro, Hanson G Nuamah, Mercy A Nuamah

Background: The objective of this study was to evaluate treatment outcomes and assess predictors of clinical pregnancy in obstructive azoospermia cases treated with testicular sperm extraction (TESE) and intracytoplasmic sperm injection (ICSI) in Ghana.

Methods: This study was a retrospective study conducted on 67 men seeking treatment for obstructive azoospermia at two study sites in Ghana from January 2018 to December 2019. First, archived data were reviewed and treatment outcomes of cases of obstructive azoospermia from the hospital records were evaluated. Infertile men who met the inclusion criteria were recruited. Descriptive data were expressed in the form of frequencies and percentages. The dependent and independent variables were analyzed using multiple logistic regression and reported as odds ratios (ORs). The confidence interval (CI) was set at 95% and a p-value <0.05 was considered significant.

Results: The mean age of male participants was 42.43±9.11 years (mean±SD) while the mean age of their partners was 32.89±5.73 years (mean±SD). The average duration of infertility before intervention was 5.01±3.60 years (mean±SD). Successful pregnancy was observed in 52.2% (35/67) of the participants. After adjusting for confounders, the rate of a successful clinical pregnancy was 0.07 lower for every additional year increase in the male's age [AOR=0.93 (95%CI=0.87-0.99), p=0.02].

Conclusion: Overall the rate of clinical pregnancy following TESE/ICSI from our study was 52.2%. A man's age was a strong predictor of successful clinical pregnancy among couples treated with TESE-ICSI for obstructive azoospermia in Ghana.

背景:本研究的目的是评估加纳接受睾丸精子提取(TESE)和胞浆内单精子注射(ICSI)治疗的阻塞性无精子症患者的治疗结果和临床妊娠的预测因素。方法:本研究是一项回顾性研究,对2018年1月至2019年12月在加纳两个研究地点寻求治疗阻塞性无精子症的67名男性进行了研究。首先,对医院记录的梗阻性无精子症病例的存档数据进行回顾和治疗结果评估。招募符合纳入标准的不育男性。描述性数据以频率和百分比的形式表示。因变量和自变量采用多元逻辑回归进行分析,并以比值比(ORs)报告。结果:男性参与者的平均年龄为42.43±9.11岁(mean±SD),其伴侣的平均年龄为32.89±5.73岁(mean±SD)。干预前不孕的平均持续时间为5.01±3.60年(mean±SD)。52.2%(35/67)的参与者成功怀孕。在调整混杂因素后,男性年龄每增加一年,临床成功妊娠率降低0.07 [AOR=0.93 (95%CI=0.87-0.99), p=0.02]。结论:TESE/ICSI术后临床妊娠率为52.2%。在加纳,男性的年龄是通过试管受精- icsi治疗梗阻性无精子症的夫妇成功临床妊娠的一个强有力的预测因素。
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引用次数: 0
The Effects of Preimplantation Genetic Testing for Aneuploidy (PGT-A) on Patient-Important Outcomes in Embryo Transfer Cases: A Meta-Analysis. 非整倍体植入前基因检测(PGT-A)对胚胎移植患者重要结局的影响:一项荟萃分析。
Q2 Medicine Pub Date : 2022-10-01 DOI: 10.18502/jri.v23i4.10808
Luis H Sordia-Hernandez, Felipe A Morales-Martinez, Fernando Díaz González-Colmenero, Andrea Flores-Rodriguez, Paloma C Leyva-Camacho, Maria Ofelia Sordia-Piñeyro, Otto H Valdés-Martínez, Selene M García-Luna, René Rodríguez-Guajardo, Luis H Sordia-Piñeyro

Background: The aim of this study was to evaluate the effect of preimplantation genetic testing for aneuploidy (PGT-A) on patient-important reproductive outcomes after in vitro fertilization (IVF).

Methods: Randomized and non-randomized studies have been sought in Ovid, MEDLINE, EMBASE, Web of Science, Scopus, and Cochrane Central Register of Controlled Trials since each database's inception through May 2021. Main keywords used for the search strategy included "Embryo transfer", "In vitro fertilization", "DNA sequencing", and "Comparative genome hybridization". Studies were screened independently and in duplicate.

Results: Ten studies were finally analyzed, representing a total of 2630 embryo transfers. The pooled OR for live birth rates were 1.45 (95%CI 0.24-8.78, I2 96%) and 1.66 (95%PI 0.15-18.01, 95%CI 0.98-2.83, I2 81%) derived from the NRSIs and the RCTs, respectively, in which the miscarriage rate were 1.25 (95%CI 0.19-8.33, I2 70%) and 0.57 (95%PI 0.06-5.34, 95%CI 0.27-1.21, I2 53%), and clinical pregnancy rates were 3.08 (95%CI 2.22-4.29, I2 0%) and 1.43 (95%PI 0.38-5.42, 95%CI 0.96-2.13, I2 68%). Influence analyses showed a greater treatment effect when excluding studies without patients at advanced maternal age.

Conclusion: There seems to be no significant difference in reproductive outcomes when using PGT-A in the general population; however, the procedure seems advantageous for patients at advanced maternal age. Nevertheless, this warrants caution when recommending the procedure to all couples seeking ART, as the current possible benefits may not justify the additional costs for all groups of patients.

背景:本研究的目的是评估胚胎植入前非整倍体基因检测(PGT-A)对体外受精(IVF)后患者重要生殖结局的影响。方法:从Ovid、MEDLINE、EMBASE、Web of Science、Scopus和Cochrane Central Register of Controlled Trials数据库建立到2021年5月,在这些数据库中寻找随机和非随机研究。搜索策略的主要关键词包括“胚胎移植”、“体外受精”、“DNA测序”和“比较基因组杂交”。研究是独立筛选的,一式两份。结果:最终分析了10项研究,共2630例胚胎移植。nrsi和RCTs的活产率合并OR分别为1.45 (95%CI 0.24-8.78, I2 96%)和1.66 (95%PI 0.15-18.01, 95%CI 0.98-2.83, I2 81%),其中流产率分别为1.25 (95%CI 0.19-8.33, I2 70%)和0.57 (95%PI 0.06-5.34, 95%CI 0.27-1.21, I2 53%),临床妊娠率分别为3.08 (95%CI 2.22-4.29, I2 0%)和1.43 (95%PI 0.38-5.42, 95%CI 0.96-2.13, I2 68%)。影响分析显示,当排除没有高龄产妇的研究时,治疗效果更大。结论:在普通人群中使用PGT-A对生殖结局似乎没有显著差异;然而,这种方法似乎对高龄产妇有利。然而,在向所有寻求抗逆转录病毒治疗的夫妇推荐该程序时,这值得谨慎,因为目前可能的益处可能不足以证明所有患者群体的额外费用是合理的。
{"title":"The Effects of Preimplantation Genetic Testing for Aneuploidy (PGT-A) on Patient-Important Outcomes in Embryo Transfer Cases: A Meta-Analysis.","authors":"Luis H Sordia-Hernandez,&nbsp;Felipe A Morales-Martinez,&nbsp;Fernando Díaz González-Colmenero,&nbsp;Andrea Flores-Rodriguez,&nbsp;Paloma C Leyva-Camacho,&nbsp;Maria Ofelia Sordia-Piñeyro,&nbsp;Otto H Valdés-Martínez,&nbsp;Selene M García-Luna,&nbsp;René Rodríguez-Guajardo,&nbsp;Luis H Sordia-Piñeyro","doi":"10.18502/jri.v23i4.10808","DOIUrl":"https://doi.org/10.18502/jri.v23i4.10808","url":null,"abstract":"<p><strong>Background: </strong>The aim of this study was to evaluate the effect of preimplantation genetic testing for aneuploidy (PGT-A) on patient-important reproductive outcomes after in vitro fertilization (IVF).</p><p><strong>Methods: </strong>Randomized and non-randomized studies have been sought in Ovid, MEDLINE, EMBASE, Web of Science, Scopus, and Cochrane Central Register of Controlled Trials since each database's inception through May 2021. Main keywords used for the search strategy included \"Embryo transfer\", \"In vitro fertilization\", \"DNA sequencing\", and \"Comparative genome hybridization\". Studies were screened independently and in duplicate.</p><p><strong>Results: </strong>Ten studies were finally analyzed, representing a total of 2630 embryo transfers. The pooled OR for live birth rates were 1.45 (95%CI 0.24-8.78, I<sup>2</sup> 96%) and 1.66 (95%PI 0.15-18.01, 95%CI 0.98-2.83, I<sup>2</sup> 81%) derived from the NRSIs and the RCTs, respectively, in which the miscarriage rate were 1.25 (95%CI 0.19-8.33, I<sup>2</sup> 70%) and 0.57 (95%PI 0.06-5.34, 95%CI 0.27-1.21, I<sup>2</sup> 53%), and clinical pregnancy rates were 3.08 (95%CI 2.22-4.29, I<sup>2</sup> 0%) and 1.43 (95%PI 0.38-5.42, 95%CI 0.96-2.13, I<sup>2</sup> 68%). Influence analyses showed a greater treatment effect when excluding studies without patients at advanced maternal age.</p><p><strong>Conclusion: </strong>There seems to be no significant difference in reproductive outcomes when using PGT-A in the general population; however, the procedure seems advantageous for patients at advanced maternal age. Nevertheless, this warrants caution when recommending the procedure to all couples seeking ART, as the current possible benefits may not justify the additional costs for all groups of patients.</p>","PeriodicalId":38826,"journal":{"name":"Journal of Reproduction and Infertility","volume":"23 4","pages":"231-246"},"PeriodicalIF":0.0,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/1b/8c/JRI-23-231.PMC9674466.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40713021","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
Frequency, Risk Factors, and Pregnancy Outcomes in Cases with Placenta Accreta Spectrum Disorder: A Case-Control Study. 胎盘增生谱系障碍的发病频率、危险因素和妊娠结局:一项病例-对照研究。
Q2 Medicine Pub Date : 2022-10-01 DOI: 10.18502/jri.v23i4.10814
Mitra Tadayon, Nahid Javadifar, Maryam Dastoorpoor, Nahid Shahbazian

Background: Placenta accreta spectrum (PAS) disorder is an important life-threatening problem. The purpose of the current study was to determine the frequency, risk factors, and pregnancy outcomes of PAS in our population.

Methods: This is a case-control study using the data from a main tertiary referral university hospital in Ahvaz, southwest of Iran. The sample included 187 cases diagnosed with placenta accreta spectrum from 2015 to 2019 and 552 controls without PAS. A multivariable logistic regression model was used to find independent risk factors with 95% confidence interval. Pregnancy outcomes were evaluated using chi-square, t-test, and Mann-Whitney U test and p<0.05 were considered statistically significant.

Results: The frequency of PAS during the study period was 3.7/1000 deliveries (0.37%). It was found that multiparity (≥3 deliveries, OR=2.05: 95%CI:1.21-3.47) and multigravidity (≥3 deliveries, OR=2.98: 95%CI:1.55-5.72), prior cesarean delivery (OR=52.55: 95%CI:19.73-139.96), and placenta previa (OR=27.48: 95%CI: 9.62-78.5) are the independent risk factors of PAS. Complications and morbidity associated with PAS included hysterectomy (60.4% vs. 0.7%, p<0.001), cystostomy (24.1% vs. 0.2%, p<0.001), the need for blood transfusion (73.7% vs. 1.4%, p<0.001), intensive care unit admission of mother (42.8% vs. 0.2%, p<0.001), duration of hospitalization (7.52±6.34 vs. 1.97±1.83, p<0.001), preterm birth <37 weeks (61.4% vs. 16.8%, p<0.001), and perinatal mortality (7.4% vs. 1.8%, p<0.001) which manifested statistically significant values.

Conclusion: The frequency of PAS is similar to other populations. Prior cesarean delivery, placenta previa, multigravidity, and multiparity were independent risk factors and also perinatal hysterectomy and preterm birth were the most important complications.

背景:胎盘增生谱(PAS)障碍是一个重要的危及生命的问题。本研究的目的是确定我国人群中PAS的发生频率、危险因素和妊娠结局。方法:这是一项病例对照研究,使用来自伊朗西南部阿瓦士一家主要三级转诊大学医院的数据。样本包括2015年至2019年诊断为胎盘增生谱的187例患者和552例没有PAS的对照组。采用多变量logistic回归模型寻找独立危险因素,置信区间为95%。采用卡方检验、t检验和Mann-Whitney U检验评估妊娠结局。结果:研究期间PAS发生率为3.7/1000次分娩(0.37%)。发现多胎(≥3次分娩,OR=2.05: 95%CI:1.21 ~ 3.47)、多胎(≥3次分娩,OR=2.98: 95%CI:1.55 ~ 5.72)、既往剖宫产(OR=52.55: 95%CI:19.73 ~ 139.96)、前置胎盘(OR=27.48: 95%CI: 9.62 ~ 78.5)是PAS的独立危险因素。PAS的并发症和发病率包括子宫切除术(60.4% vs. 0.7%)。0.2%, pv。1.4%, pv。0.2%, pv。1.97±1.83,pv。16.8%, pv。结论:PAS的发生率与其他人群相似。既往剖宫产、前置胎盘、多胎和多胎是独立危险因素,围产期子宫切除术和早产是最重要的并发症。
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引用次数: 1
Monkeypox and Male Fertility: Is There Any Looming Danger? 猴痘和男性生育能力:是否有潜在的危险?
Q2 Medicine Pub Date : 2022-10-01 DOI: 10.18502/jri.v23i4.10819
Stefan S du Plessis, Walter D Cardona Maya, Temidayo S Omolaoye
The Article Abstract is not Available.
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引用次数: 1
Health Problems and Financial Burdens in Mislabeling IVF Failures as RIF. 将试管婴儿失败错误标记为RIF的健康问题和经济负担。
Q2 Medicine Pub Date : 2022-10-01 DOI: 10.18502/jri.v23i4.10807
Mohammad Reza Sadeghi
The Article Abstract is not Available.
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引用次数: 0
The Appropriate Criteria in Patients Selection for Myomectomy in the Era of Minimally Invasive Surgery: A Case Report. 微创手术时代选择肌瘤切除术患者的适当标准:病例报告。
Q2 Medicine Pub Date : 2022-10-01 DOI: 10.18502/jri.v23i4.10818
Sangam Jha, Sonia, Hemali Sinha, Upasna Sinha

Background: Myoma is the most common benign monoclonal neoplasm of the uterus with increased frequency during reproductive years of women.

Case presentation: A twenty two year old female presented with abdomen lump, dysmenorrhoea, and heavy menstrual bleeding. Multiple myomas were diagnosed based on clinical and radiological findings. Abdominal myomectomy was performed and 75 myomas were enucleated followed by reconstruction of uterus. The second case was a 28 year old married woman presented with heavy menstrual bleeding and dysmenorrhoea. Ultrasound reported single posterior wall myoma of 8×6.3×5.8 cm in size. Laparoscopic myomectomy was performed. At follow-up visit, both cases were completely free of any symptoms.

Conclusion: Myomectomy is a feasible and safe option and a uterine preserving surgery even in the presence of multiple myomas. Setting appropriate criteria in selecting patients for abdominal myomectomy rather than MIS is essential to avoid conversion and associated morbidity.

背景:子宫肌瘤是最常见的子宫单克隆良性肿瘤,在妇女生育期发病率较高:一名22岁的女性因腹部肿块、痛经和大量月经出血前来就诊。根据临床和放射学检查结果,诊断为多发性子宫肌瘤。患者接受了腹部肌瘤切除术,切除了 75 个肌瘤,然后重建了子宫。第二个病例是一名 28 岁的已婚妇女,因大量月经出血和痛经而就诊。超声检查报告为单个后壁肌瘤,大小为 8×6.3×5.8 厘米。患者接受了腹腔镜子宫肌瘤剔除术。随访时,两例患者均完全摆脱了任何症状:结论:子宫肌瘤剔除术是一种可行且安全的选择,即使存在多发性肌瘤,也是一种保留子宫的手术。在选择患者进行腹腔子宫肌瘤剔除术而非MIS手术时,制定适当的标准对避免转归和相关发病率至关重要。
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引用次数: 0
An Incidental Detection of a Cryptic Complex Chromosome Rearrangement Found During NGS Based PGT-SR: A Case Report. 在基于NGS的PGT-SR中偶然发现的隐性复杂染色体重排:一例报告。
Q2 Medicine Pub Date : 2022-10-01 DOI: 10.18502/jri.v23i4.10817
Leyla Özer, Suleyman Aktuna, Evrim Unsal, Aysun Baltaci, Volkan Baltaci

Background: Complex chromosome rearrangements (CCRs) involve more than 2 chromosomal breakpoints and cause the exchanges of chromosomal segments between two or more chromosomes. The carriers of CCRs have normal phenotypes, but they have a higher risk of reproductive failure.

Case presentation: This paper presents a couple with a history of two affected children, one spontaneous abortion, three in vitro fertilization (IVF) failures, and one healthy boy who were referred to our laboratory for preimplantation genetic testing (PGT). The wife had been evaluated as a carrier of 46,XX,t (2;6)(p21;p25); therefore, four IVF treatment cycles supported with PGT for this translocation had been performed in different IVF centers until the couple consulted our laboratory. Only one of these four IVF attempts had resulted in a healthy boy and this IVF study had been performed with fluorescence in situ hybridization (FISH)-based preimplantation genetic testing for structural chromosomal rearrangements (PGT-SR). The fifth IVF study with next-generation sequencing (NGS)-based PGT was performed by our laboratory and no healthy embryo was found in evaluated 6 embryos. During our NGS-based PGT, the cryptic involvement of 12p was firstly detected. FISH with chromosome 2,6, and 12 specific probes revealed that the mother was a carrier of a balanced 3-way translocation of 46,XX,t(2;6;12)(p21;p25;p13).

Conclusion: NGS based PGT-SR method is an accurate method for detecting the copy number variations and is helpful to find out the cryptic CCRs.

背景:复杂染色体重排(CCRs)涉及超过2个染色体断点,并导致两条或更多染色体之间的染色体片段交换。CCRs的携带者表型正常,但生殖失败的风险较高。病例介绍:本文介绍了一对夫妇,他们有两个受影响的孩子,一个自然流产,三个体外受精(IVF)失败,一个健康的男孩,他们被转到我们的实验室进行植入前基因检测(PGT)。妻子被评估为46,xx,t (2;6)(p21;p25)携带者;因此,在这对夫妇咨询我们的实验室之前,已经在不同的试管婴儿中心进行了四个IVF治疗周期的PGT支持。这四次试管婴儿尝试中只有一次产生了健康的男孩,这项试管婴儿研究是通过基于荧光原位杂交(FISH)的植入前基因检测进行的,用于结构染色体重排(PGT-SR)。我们实验室进行了基于下一代测序(NGS)的PGT的第五次体外受精研究,在评估的6个胚胎中未发现健康胚胎。在我们基于ngs的PGT中,首先检测到12p的隐性参与。对第2、6和12号染色体进行特异性探针的FISH检测显示,母亲是46,XX,t(2;6;12)的平衡3向易位的携带者(p21;p25;p13)。结论:基于NGS的PGT-SR方法是一种准确的检测拷贝数变异的方法,有助于发现隐匿性ccr。
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引用次数: 0
期刊
Journal of Reproduction and Infertility
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