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Relevance of Imaging Examinations in the Surgical Planning of Patients with Bowel Endometriosis. 成像检查在肠道子宫内膜异位症患者手术规划中的相关性。
Pub Date : 2016-02-21 eCollection Date: 2016-01-01 DOI: 10.4137/CMRH.S29472
Carlos H Trippia, Monica T Zomer, Carlos R T Terazaki, Rafael L S Martin, Reitan Ribeiro, William Kondo

Endometriosis is a benign gynecologic disease characterized by the presence of endometrial tissue outside the uterine cavity. The complexity of the disease results from its multiple clinical presentations, the multifocal pattern of distribution of the lesions, the presence of extra pelvic sites of the disease (mainly affecting the urinary and the intestinal tracts), and the difficulty in the preoperative diagnosis (by means of imaging studies) and in the surgical treatment. The preoperative mapping of the lesions, either by ultrasound or by magnetic resonance imaging, allows for an adequate surgical planning and a better preoperative patient counseling, especially in those women with deep infiltrating endometriosis affecting the bowel. Also, the choice of the surgical team that is going to perform the procedure may be based on the preoperative workup. In this paper, we highlight the important findings that should be described in the imaging examination reports for the preoperative workup of patients with deep infiltrating endometriosis of the intestine.

子宫内膜异位症是一种良性妇科疾病,其特征是子宫腔外存在子宫内膜组织。子宫内膜异位症的复杂性在于其多种临床表现、病灶的多灶性分布、盆腔外病变部位的存在(主要影响泌尿道和肠道)以及术前诊断(通过影像学检查)和手术治疗的难度。术前通过超声波或磁共振成像绘制病灶图,可以制定适当的手术计划,并为患者提供更好的术前咨询,尤其是对那些患有影响肠道的深部浸润性子宫内膜异位症的妇女。此外,还可以根据术前检查结果选择手术团队。在本文中,我们将重点介绍肠道深部浸润性子宫内膜异位症患者术前检查影像报告中应描述的重要发现。
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引用次数: 0
Case Report of Ectopic Ovarian Pregnancy Following Fresh Embryo Transfer 新鲜胚胎移植后异位卵巢妊娠1例报告
Pub Date : 2016-01-01 DOI: 10.4137/CMRH.S40593
N. Samara, Yaakov Bentov
Background Ovarian pregnancy is a rare and challenging clinical phenomenon. Recent studies have identified assisted reproductive treatments and infertility as risk factors. However, neither a definite mechanism nor clear risk factors were identified and therefore prevention strategies are yet unavailable. Clinical Case In this article, we present a case of ovarian pregnancy occurring following in vitro fertilization treatment and a fresh embryo transfer. The couple was diagnosed with unexplained infertility and no identifiable risk factors for extrauterine pregnancy. The diagnosis of ovarian pregnancy was made during explorative laparoscopy performed due to suspected extrauterine pregnancy. The patient had normal intra- and postoperative course. Conclusion Ovarian pregnancy is an infrequent and a challenging diagnosis. Yet, late diagnosis and lack of appropriate intervention may have long-term implications. Several mechanisms and risk factors are proposed, and their acknowledgment may improve early diagnosis and prevention of complications.
卵巢妊娠是一种罕见且具有挑战性的临床现象。最近的研究已经确定辅助生殖治疗和不孕症是危险因素。然而,既没有确定明确的机制,也没有明确的风险因素,因此还没有预防战略。在本文中,我们报告一例卵巢妊娠发生在体外受精治疗和新鲜胚胎移植后。这对夫妇被诊断为不明原因的不孕症,没有确定的宫外妊娠危险因素。由于怀疑宫外妊娠,在探查性腹腔镜下诊断卵巢妊娠。患者内、术后病程正常。结论卵巢妊娠是一种罕见且具有挑战性的诊断。然而,晚期诊断和缺乏适当的干预可能会产生长期影响。提出了几种机制和危险因素,对它们的认识可能有助于早期诊断和预防并发症。
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引用次数: 1
Combination of PAPPA, fhCGβ, AFP, PlGF, sTNFR1, and Maternal Characteristics in Prediction of Early-onset Preeclampsia. 联合PAPPA、fhCGβ、AFP、PlGF、sTNFR1和母体特征预测早发性子痫前期
Pub Date : 2015-06-11 eCollection Date: 2015-01-01 DOI: 10.4137/CMRH.S21865
Anna Yliniemi, Kaarin Makikallio, Teemu Korpimaki, Heikki Kouru, Jaana Marttala, Markku Ryynanen

Objective: To evaluate the efficacy of first-trimester markers-pregnancy-associated plasma protein A (PAPPA), free human chorionic gonadotropin β (fhCGβ), alpha-fetoprotein (AFP), placental growth factor (PlGF), and soluble tumor necrosis factor receptor-1 (sTNFR1) together with maternal characteristics (MC) for prediction of early-onset preeclampsia (EOPE).

Methods: During 2005-2010, the abovementioned biomarkers were analyzed with logistic regression analysis in 64 EOPE and 752 control subjects to determine whether these biomarkers separately and in combination with MC would predict development of EOPE.

Results: PAPPA, fhCGβ, and PlGF levels were lower, whereas AFP and sTNFR1 levels were higher in mothers with EOPE compared to controls. The combination of all markers with MC (age, weight, and smoking status) detected 48% of the mothers with EOPE, with a 10% false-positive rate (FPR).

Conclusions: First-trimester maternal serum levels of PAPPA, fhCGβ, AFP, PlGF, and sTNFR1, together with MC, are predictive of development of subsequent EOPE. These markers, along with MC, form a suitable panel for predicting EOPE.

目的:评价妊娠前期标志物妊娠相关血浆蛋白A (PAPPA)、游离人绒毛膜促性腺激素β (fhCGβ)、甲胎蛋白(AFP)、胎盘生长因子(PlGF)、可溶性肿瘤坏死因子受体-1 (sTNFR1)及母体特征(MC)对早发性子痫前期(EOPE)的预测作用。方法:2005-2010年,对64例EOPE患者和752例对照患者的上述生物标志物进行logistic回归分析,以确定这些生物标志物单独或与MC联合是否能预测EOPE的发展。结果:与对照组相比,EOPE母亲的PAPPA、fhCGβ和PlGF水平较低,而AFP和sTNFR1水平较高。结合MC的所有标记(年龄、体重和吸烟状况)检测出48%的EOPE母亲,假阳性率(FPR)为10%。结论:妊娠早期孕妇血清中PAPPA、fhCGβ、AFP、PlGF和sTNFR1水平以及MC可预测随后的EOPE的发展。这些标记与MC一起构成了预测EOPE的合适面板。
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引用次数: 29
In Vivo Culture System Using the INVOcell Device Shows Similar Pregnancy and Implantation Rates to Those Obtained from In Vivo Culture System in ICSI Procedures. 使用INVOcell装置的体内培养系统显示出与ICSI程序中使用体内培养系统获得的相似的妊娠和着床率。
Pub Date : 2015-06-10 eCollection Date: 2015-01-01 DOI: 10.4137/CMRH.S25494
Javier García-Ferreyra, Roly Hilario, Daniel Luna, Lucy Villegas, Rocío Romero, Patricia Zavala, Julio Dueñas-Chacón

Capsule: Clinical outcomes using INVOcell device with ICSI.

Objective: Intravaginal culture of oocytes (INVO) procedure is an intravaginal culture system that utilizes the INVOcell device in which the fertilization and embryo culture occur. In this procedure, the vaginal cavity serves as an incubator for oocyte fertilization and early embryonic development. The objective of this study was to evaluate the clinical outcomes of this intravaginal culture system in intracytoplasmic sperm injection (ICSI).

Methods: A total of 24 cycles INVO-ICSI (study group) and 74 cycles of ICSI (control group) were included in the study. The cleaved oocytes at day 3/total injected oocytes, embryo quality, pregnancy rate (PR), implantation rate (IR), and miscarriage rate (MR) were compared between both groups.

Results: At day 3, there was no difference in the cleaved oocyte rate (78.7 and 76.1%) and embryo quality (77 and 86.8%) for the study and control groups, respectively. In the study group, more embryos were significantly transferred compared to the control group (2.63 ± 0.58 versus 1.93 ± 0.25; P < 0.05). PRs, IRs, and MRs were similar for the study group compared with the control group (PR: 54.2% versus 58.1%; IR: 31.7% versus 33.6%; MR: 7.7% versus 20.9%).

Conclusions: Good PR and IR can be obtained using the INVOcell device, and the INVO-ICSI procedure can be considered as an alternative option to infertile patients.

胶囊:使用INVOcell装置进行ICSI的临床结果。目的:卵母细胞阴道内培养(INVO)是一种利用INVOcell装置进行受精和胚胎培养的阴道内培养系统。在这个过程中,阴道作为卵母细胞受精和早期胚胎发育的孵化器。本研究的目的是评估这种阴道内培养系统在卵胞浆内单精子注射(ICSI)中的临床效果。方法:共纳入24个周期的INVO-ICSI(研究组)和74个周期的ICSI(对照组)。比较两组第3天卵裂卵母细胞/总注射卵母细胞数、胚胎质量、妊娠率(PR)、着床率(IR)和流产率(MR)。结果:第3天,实验组和对照组的卵裂卵率(78.7和76.1%)和胚胎质量(77和86.8%)差异无统计学意义。研究组的胚胎移植数明显多于对照组(2.63±0.58 vs 1.93±0.25);P < 0.05)。与对照组相比,研究组的PR、IRs和MRs相似(PR: 54.2%对58.1%;IR: 31.7% vs 33.6%;MR: 7.7%对20.9%)。结论:使用INVOcell装置可获得良好的PR和IR, INVO-ICSI手术可作为不孕症患者的替代选择。
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引用次数: 6
The Role of Uterine and Umbilical Arterial Doppler in High-risk Pregnancy: A Prospective Observational Study from India. 子宫和脐动脉多普勒在高危妊娠中的作用:一项来自印度的前瞻性观察研究。
Pub Date : 2015-04-15 eCollection Date: 2015-01-01 DOI: 10.4137/CMRH.S24048
Teena Nagar, Deepak Sharma, Mukesh Choudhary, Shusheela Khoiwal, Rajendra Prasad Nagar, Aakash Pandita

Aim: To study the role of Doppler imaging in prediction of high-risk pregnancies and their outcomes.

Methods and material: This prospective study in a setup of tertiary-level care center includes 500 high-risk pregnant women from rural and urban sectors and evaluates the predictive values of various Doppler indices.

Results: Out of 500 patients, 110 patients had abnormal Doppler among them, 70 patients had abnormal uterine artery Doppler, and 50 patients had abnormal umbilical artery Doppler flow indices. In all, 10 patients had both umbilical artery and uterine artery abnormal Doppler indices. When uterine artery was abnormal (70 patients), 20 patients had preeclampsia, 10 patients had pregnancy-induced hypertension (PIH), and 25 patients had intrauterine growth restriction (IUGR). Systolic/diastolic (S/D) ratio and notch had sensitivity of 60% and positive predictive value of 33.3% and 37.5%, respectively. When umbilical artery was abnormal (50 patients), 10 had preeclampsia, 15 had PIH, and 15 had IUGR. S/D ratio had the highest positive predictive value of 40%; sensitivity is same for all. In uterine artery, combination of parameters had the best sensitivity of 80%, followed by notch and S/D ratio. In umbilical artery, combination of parameters, S/D ratio, and RI (resistance index) had sensitivity of 40%; specificity of all the indices was 91-96%. In all, 20 patients had bilateral notch, and among them 15 developed preeclampsia and 15 developed IUGR. When both uterine and umbilical artery Doppler were abnormal (10 patients), all patients had preeclampsia and IUGR.

Conclusion: Therefore, Doppler study may be used for the prediction of preeclampsia and IUGR to reduce the maternal and perinatal morbidity and mortality.

目的:探讨多普勒超声在预测高危妊娠及其结局中的作用。方法与材料:本前瞻性研究在三级保健中心设置,包括500名农村和城市地区的高危孕妇,并评估各种多普勒指数的预测价值。结果:500例患者中,多普勒异常110例,子宫动脉多普勒异常70例,脐动脉多普勒血流指标异常50例。10例患者脐动脉和子宫动脉均有多普勒异常。子宫动脉异常时(70例),20例发生子痫前期,10例发生妊高征(PIH), 25例发生宫内生长受限(IUGR)。收缩压/舒张压(S/D)比值和缺口的敏感性为60%,阳性预测值分别为33.3%和37.5%。脐动脉异常时(50例),先兆子痫10例,PIH 15例,IUGR 15例。S/D比值阳性预测值最高,为40%;所有人的敏感性都是一样的。在子宫动脉中,参数组合的灵敏度最高,为80%,其次是缺口和S/D比。在脐动脉中,参数组合、S/D比、RI(阻力指数)敏感性为40%;各指标特异性为91 ~ 96%。共有20例患者出现双侧缺口,其中15例发生子痫前期,15例发生IUGR。当子宫和脐动脉多普勒均异常时(10例),所有患者均有先兆子痫和IUGR。结论:多普勒可用于先兆子痫及IUGR的预测,降低孕产妇及围产儿的发病率和死亡率。
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引用次数: 49
Cryptorchidism and Fertility 隐睾和生育
Pub Date : 2015-01-01 DOI: 10.4137/CMRH.S25056
F. Fawzy, A. Hussein, M. Eid, Ahmed El Kashash, H. Salem
Cryptorchidism, the failure of one or both testes to descend into the scrotum prenatally, occurs in 2.4%-5% of newborns. Many of these testes will descend spontaneously shortly after birth, but ~23% will remain undescended unless surgery is performed. Bilaterally cryptorchid men have a six times greater risk of being infertile when compared with unilaterally cryptorchid men and the general male population. Approximately 10% of infertile men have a history of cryptorchidism and orchidopexy. The main reasons for infertility in men with a history of cryptorchidism treated by orchidopexy are maldevelopment of the testes and an improper environment for the normal development of the testes, hyperthermia, and antisperm antibodies.
隐睾症,即一个或两个睾丸在出生前不能下降到阴囊中,发生在2.4%-5%的新生儿中。这些睾丸中有许多在出生后不久就会自发下降,但除非进行手术,否则约23%的睾丸仍会下降。与单侧隐睾男性和普通男性相比,双侧隐睾男性不育的风险要高6倍。大约10%的不育男性有隐睾和睾丸切除术的病史。有隐睾病史而行睾丸切除术的男性不育的主要原因是睾丸发育不良、睾丸正常发育的环境不适宜、体温过高和抗精子抗体。
{"title":"Cryptorchidism and Fertility","authors":"F. Fawzy, A. Hussein, M. Eid, Ahmed El Kashash, H. Salem","doi":"10.4137/CMRH.S25056","DOIUrl":"https://doi.org/10.4137/CMRH.S25056","url":null,"abstract":"Cryptorchidism, the failure of one or both testes to descend into the scrotum prenatally, occurs in 2.4%-5% of newborns. Many of these testes will descend spontaneously shortly after birth, but ~23% will remain undescended unless surgery is performed. Bilaterally cryptorchid men have a six times greater risk of being infertile when compared with unilaterally cryptorchid men and the general male population. Approximately 10% of infertile men have a history of cryptorchidism and orchidopexy. The main reasons for infertility in men with a history of cryptorchidism treated by orchidopexy are maldevelopment of the testes and an improper environment for the normal development of the testes, hyperthermia, and antisperm antibodies.","PeriodicalId":44130,"journal":{"name":"Clinical Medicine Insights-Reproductive Health","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2015-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87445133","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}
引用次数: 20
The IMSI Procedure Improves Laboratory and Clinical Outcomes Without Compromising the Aneuploidy Rate When Compared to the Classical ICSI Procedure 与传统ICSI手术相比,IMSI手术在不影响非整倍体率的情况下改善了实验室和临床结果
Pub Date : 2015-01-01 DOI: 10.4137/CMRH.S33032
D. Luna, Roly Hilario, Julio Dueñas-Chacón, R. Romero, Patricia Zavala, Lucy Villegas, J. García-Ferreyra
Purpose The intracytoplasmic morphologically selected sperm injection (IMSI) procedure has been associated with better laboratory and clinical outcomes in assisted reproduction technologies. Less information is available regarding the relationship between embryo aneuploidy rate and the IMSI procedure. The aim of this study is to compare the clinical outcomes and chromosomal status of IMSI-derived embryos with those obtained from intracytoplasmic sperm injection (ICSI) in order to establish a clearer view of the benefits of IMSI in infertile patients. Methods We retrospectively analyzed a total of 11 cycles of IMSI and 20 cycles of ICSI with preimplantation genetic diagnosis. The fertilization rate, cleavage rate, embryo quality, blastocyst development, aneuploidy rate, pregnancy rate, implantation rate, and miscarriage rate were compared between the groups. Results Similar rates of fertilization (70% and 73%), cleavage (98% and 100%), and aneuploidy (76.9% and 70.9%) were observed in the IMSI and ICSI groups, respectively. The IMSI group had significantly more good quality embryos at day 3 (95% vs 73%), higher blastocyst development rates (33% vs 19%), and greater number of hatching blastocysts (43% vs 28%), cycles with at least one blastocyst at day 5 (55% vs 35%), and blastocysts with good trophoectoderm morphology (21% vs 6%) compared with the ICSI group (P < 0.001). Significantly higher implantation rates were observed in the IMSI group compared with the ICSI group (57% vs 27%; P < 0.05). Pregnancy and miscarriage rates were similar in both groups (80% vs 50% and 0% vs 33%, respectively). Conclusion The IMSI procedure significantly improves the embryo quality/development by increasing the implantation rates without affecting the chromosomal status of embryos. There is a tendency for the IMSI procedure to enhance the pregnancy rates and lower the miscarriage rates when compared with ICSI.
在辅助生殖技术中,胞浆内形态学选择精子注射(IMSI)与更好的实验室和临床结果有关。关于胚胎非整倍体率与IMSI程序之间关系的信息较少。本研究的目的是比较IMSI来源的胚胎与卵胞浆内单精子注射(ICSI)获得的胚胎的临床结果和染色体状况,以便更清楚地了解IMSI对不育患者的益处。方法回顾性分析11个周期IMSI和20个周期ICSI伴着床前遗传学诊断的病例。比较各组受精率、卵裂率、胚胎质量、囊胚发育、非整倍体率、妊娠率、着床率、流产率。结果IMSI组和ICSI组受精率分别为70%和73%,卵裂率分别为98%和100%,非整倍体率分别为76.9%和70.9%。与ICSI组相比,IMSI组在第3天有更多的优质胚胎(95%对73%),更高的囊胚发育率(33%对19%),更多的孵化囊胚(43%对28%),第5天至少有一个囊胚周期(55%对35%),囊胚具有良好的滋养外胚层形态(21%对6%)(P < 0.001)。IMSI组的着床率明显高于ICSI组(57% vs 27%;P < 0.05)。两组的妊娠率和流产率相似(分别为80%对50%和0%对33%)。结论IMSI在不影响胚胎染色体状态的情况下,提高了胚胎着床率,显著改善了胚胎质量/发育。与ICSI相比,IMSI有提高妊娠率和降低流产率的趋势。
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引用次数: 25
High Aneuploidy Rates Observed in Embryos Derived from Donated Oocytes are Related to Male Aging and High Percentages of Sperm DNA Fragmentation 在捐赠卵母细胞衍生的胚胎中观察到的高非整倍体率与男性衰老和精子DNA碎片率高有关
Pub Date : 2015-01-01 DOI: 10.4137/CMRH.S32769
J. García-Ferreyra, D. Luna, Lucy Villegas, R. Romero, Patricia Zavala, Roly Hilario, Julio Dueñas-Chacón
Capsule Male aging effects on aneuploidy rates in embryos. Objective Paternal age is associated with decreasing sperm quality; however, it is unknown if it influences chromosomal abnormalities in embryos. The objective of this study is to evaluate if the aneuploidy rates in embryos are affected by advanced paternal age. Methods A total of 286 embryos, obtained from 32 in vitro fertilization/intracytoplasmic sperm injection cycles with donated oocytes in conjunction with preimplantation genetic diagnosis, were allocated according to paternal age in three groups: Group A: ≤39 years (n = 44 embryos); Group B: 40-49 years (n = 154 embryos); and Group C: ≥50 years (n = 88 embryos). Fertilization rates, embryo quality at day 3, blastocyst development, and aneuploidy embryo rates were then compared. Results There was no difference in the seminal parameters (volume, concentration, and motility) in the studied groups. Fertilization rate, percentages of zygotes underwent cleavage, and good quality embryos on day 3 were similar between the three evaluated groups. The group of men ≥50 years had significantly more sperm with damaged DNA, low blastocyst development rate, and higher aneuploidy rates in embryos compared to the other two evaluated groups (P < 0.05). Conclusions Our findings suggest that advanced paternal age increases the aneuploidy rates in embryos from donated oocytes, which suggests that genetic screening is necessary in those egg donor cycles with sperm from patients >50 years old.
雄性衰老对胚胎非整倍体率的影响。目的父亲年龄与精子质量下降有关;然而,尚不清楚它是否会影响胚胎中的染色体异常。本研究的目的是评估胚胎的非整倍体率是否受到父亲年龄的影响。方法32次体外受精/卵浆内单精子注射周期,结合着床前遗传学诊断获得286个胚胎,按父亲年龄分为3组:A组≤39岁(n = 44个胚胎);B组:40-49岁(n = 154个胚胎);C组:≥50岁(n = 88个胚胎)。然后比较受精率、第3天胚胎质量、囊胚发育和非整倍体胚胎率。结果实验组的精液参数(体积、浓度和活力)无显著差异。3个评价组的受精率、受精卵卵裂率和第3天胚胎质量相似。与其他两个评估组相比,年龄≥50岁的男性有更多的精子DNA受损,囊胚发育率低,胚胎非整倍体率更高(P < 0.05)。结论父亲年龄越高,捐赠卵母细胞胚胎的非整倍体率越高,这表明对于年龄>50岁的患者进行卵子捐赠周期的遗传筛查是必要的。
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引用次数: 56
Individualized Treatment from Theory to Practice: The Private Case of Adding LH during GnRH Antagonist-based Stimulation Protocol. 从理论到实践的个体化治疗:GnRH拮抗剂刺激方案中添加LH的个例。
Pub Date : 2014-10-14 eCollection Date: 2014-01-01 DOI: 10.4137/CMRH.S17788
Shahar Kol

Unlabelled: The study evaluated the proportion of patients whose pituitary glands respond with a sharp decrease in luteinizing hormone (LH) levels when exposed to a conventional dose of 0.25 mg gonadotropin releasing hormone (GnRH) antagonist in a prospective, single-center, non-randomized, proof-of-concept study. Fifty women eligible for in vitro fertilization (IVF) received recFSH (Gonal-F) from day 2 or 3 of menstrual period. Basal estradiol, progesterone, and LH were measured on the same day and 4-5 days later-immediately before GnRH antagonist 0.25 mg administration, and 24 hours after its administration. Responders were defined as "normal" if 24 hours after the first GnRH antagonist injection, LH level was ≥50% of the pre-injection level and as "over-suppressed" if it was <50% of the pre-injection level. Twelve patients (26% of the total) were "over-suppressed" with a mean LH level of 37% of the level 24 hours earlier. These patients also demonstrated a significant decrease in estradiol rise during the first 24 hours after initial antagonist administration. This effect was reversed for the rest of the stimulation period during which recLH (Luveris, 150 IU/day) was added to the "over-suppressed." If proven advantageous in terms of pregnancy rate, this approach to individualized treatment would be easy to implement.

Trial registration: ClinicalTrials. gov Identifier: NCT01936077.

未标记:该研究在一项前瞻性、单中心、非随机、概念验证研究中评估了暴露于常规剂量0.25 mg促性腺激素释放激素(GnRH)拮抗剂时,垂体反应促黄体生成素(LH)水平急剧下降的患者比例。50名符合体外受精(IVF)条件的妇女从月经期的第2天或第3天开始接受recFSH (Gonal-F)。在GnRH拮抗剂0.25 mg给药前和给药后24小时分别在当天和4-5天后测量基础雌二醇、孕酮和LH。如果在第一次GnRH拮抗剂注射后24小时,LH水平≥注射前水平的50%,应答者被定义为“正常”,如果是试验注册:临床试验,则被定义为“过度抑制”。. gov标识符:NCT01936077。
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引用次数: 12
The Low Prevalence of Y Chromosomal Microdeletions is Observed in the Oligozoospermic Men in the Area of Mato Grosso State and Amazonian Region of Brazilian Patients. 在马托格罗索州和亚马逊地区巴西患者的少精子男性中观察到Y染色体微缺失的低患病率。
Pub Date : 2014-08-11 eCollection Date: 2014-01-01 DOI: 10.4137/CMRH.S15475
Gleice Cristina Dos Santos Godoy, Bianca Borsatto Galera, Claudinéia Araujo, Jacklyne Silva Barbosa, Max Fernando de Pinho, Marcial Francis Galera, Sebastião Freitas de Medeiros

Objective: To determine the prevalence of chromosomal abnormalities and microdeletions on Y chromosome in infertile patients with oligozoospermia or azoospermia in Mato Grosso state, Brazil.

Methods: This cross-sectional study enrolled 94 men from infertile couples. Karyotype analysis was performed by lymphocyte culture technique. DNA from each sample was extracted using non-enzymatic method. Microdeletions were investigated by polymerase chain reaction (PCR).

Results: With the use of cytogenetic analysis, five patients (5.3%) had abnormal karyotype, one azoospermic patient (1.1%) had karyotype 46,XY,t(7;1) (qter-p35), one (1.1%) with mild oligozoospermia had karyotype 46,XY,delY(q), and two other azoospermic patients had karyotype 47,XXY, consistent with Klinefelter syndrome (KS). One of them (1.1%) with severe oligozoospermia had karyotype 46,XY,8p+. Microdeletion on Y chromosome was found in the azoospermia factor c (AZFc) region in only one azoospermic patient (1.1%).

Conclusions: The prevalence of genetic abnormalities in oligo/azoospermic Brazilian men from infertile couple was 5.3%, and microdeletion on Y chromosome was not a common finding in this population (1.1%).

目的:了解巴西马托格罗索州少精症和无精症患者染色体异常和Y染色体微缺失的发生率。方法:本横断面研究纳入94名不育夫妇。采用淋巴细胞培养技术进行核型分析。每个样品的DNA采用非酶法提取。用聚合酶链反应(PCR)检测微缺失。结果:细胞遗传学分析,5例(5.3%)患者核型异常,1例(1.1%)无精子症患者核型为46、XY、t(7;1) (qter-p35), 1例(1.1%)轻度少精子症患者核型为46、XY、delY(q), 2例(1.1%)无精子症患者核型为47、XXY,符合Klinefelter综合征(KS)。严重少精症1例(1.1%)核型为46、XY、8p+。在无精子症患者中,仅有1例(1.1%)在无精子症因子c (AZFc)区发现Y染色体微缺失。结论:来自不育夫妇的少精/无精巴西男性遗传异常患病率为5.3%,Y染色体微缺失在该人群中并不常见(1.1%)。
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引用次数: 4
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Clinical Medicine Insights-Reproductive Health
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