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Preliminary study of letrozole use for improving spermatogenesis in non-obstructive azoospermia patients with normal serum FSH 被引量:8
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作者 Giorgio Cavallini Giovanni Beretta Giulio Biagiotti 《Asian Journal of Andrology》 SCIE CAS CSCD 2011年第6期895-897,共3页
We investigated whether letrozole (2.5 mg day-1) improves sperm count in non-obstructive azoospermia (NOA) patients. Four men were included in this study, and they had folliculo-stimulating hormone and other hormo... We investigated whether letrozole (2.5 mg day-1) improves sperm count in non-obstructive azoospermia (NOA) patients. Four men were included in this study, and they had folliculo-stimulating hormone and other hormone levels within the normal range and no varicoceles or chromosomal aberrations. These four patients were administered letrozole for 3 months. Sperm count, testicular volume, gonadotropin, testosterone (T) and estradiol (E2) blood levels were assessed before, during and 1 week after the suspension of treatment. All patients showed spermatozoa in their ejaculate, increased gonadotropin and T levels and lower E2 levels (P〈0.05 in all cases), when letrozole was administered. This suggests that letrozole treatment might improve sperm count in an NOA sub-population; however, more studies, including the proper controls, are needed to confirm its efficacy. 展开更多
关键词 LETROZOLE medical treatment non-obstructive azoospermia SPERMATOGENESIS
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Outcome of repeated micro-surgical testicular sperm extraction in patients with non-obstructive azoospermia 被引量:4
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作者 Halit Talas Onder Yaman Kaan Aydos 《Asian Journal of Andrology》 SCIE CAS CSCD 2007年第5期668-673,共6页
Aim: To evaluate the outcome of repetitive micro-surgical testicular sperm extraction (mTESE) attempts in non-obstructive azoospermia (NOA) cases, in relation to patients' initial testicular histology results. M... Aim: To evaluate the outcome of repetitive micro-surgical testicular sperm extraction (mTESE) attempts in non-obstructive azoospermia (NOA) cases, in relation to patients' initial testicular histology results. Methods: A total of 68 patients with NOA in whom mTESE had been performed in previous intracytoplasmic sperm injection (ICSI) attempts were reviewed. Results: Among the 68 patients with NOA, the first mTESE yielded mature sperm for ICSI in 44 (64%) (Sp^+), and failed in the remaining 24 (36%) (Sp^-). Following their first trial, 24 patients decided to undergo a second mTESE. Of these 24 patients, no spermatozoa were obtained in 5 patients, and Sp^+ but no fertilization/pregnancy were achieved in 19. In these 24 cases, mTESE was successively repeated for two (n = 24), three (n = 4) and four (n = 1) times. The second attempt yielded mature sperm in 3/5 patients from the Sp group and 16/19 patients from the Sp^+ group. At the third and fourth trials, 4/4 and 1/1 of the original Sp^+ patients were Sp^+ again, respectively. Distribution of main testicular histology included Sertoli cell-only syndrome (16%), maturation arrest (22%), hypospermatogenesis (21%) and focal spermatogenesis (41%). Overall, in repetitive mTESE, 24/29 (82%) of the attempts were finally Sp^+. Conclusion: Repeated mTESE in patients with NOA is a feasible option, yielding considerably high sperm recovery rate. In patients with NOA, mTESE may safely be repeated one or more times to increase sperm retrieval rate, as well as to increase the chance of retrieving fresh spermatozoa to enable ICSI. 展开更多
关键词 azoospermia intracytoplasmic sperm injection micro-surgical testicular sperm extraction non-obstructive azoospermiarepetitive testicular sperm extraction
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A susceptibility locus rs7099208 is associated with non-obstructive azoospermia via reduction in the expression of FAM160B1 被引量:1
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作者 Yan Zhang Jing Qian +7 位作者 Minghui Wu Mingxi Liu Kai Zhang Yuan Lin Xuejiang Guo Zuomin Zhou Zhibin Hu Jiahao Sha 《The Journal of Biomedical Research》 CAS CSCD 2015年第6期491-500,共10页
Non-obstructive azoospermia (NOA) is a severe defect in male reproductive health that occurs in 1% of adult men. In a previous study, we identified that rs7099208 is located within the last intron of FAM160B1 at 10q... Non-obstructive azoospermia (NOA) is a severe defect in male reproductive health that occurs in 1% of adult men. In a previous study, we identified that rs7099208 is located within the last intron of FAM160B1 at 10q25.3. In this study, we analysed expression Quantitative Trait Loci (eQTL) of FAM16OB1, ABLIM1 and TRUB1, the three genes surrounding rs7099208. Only the expression level of FAM16OB1 was reduced for the homozygous alternate genotype (GG) of rs7099208, but not for the homozygous reference or heterozygous geno- types. FAM160B1 is predominantly expressed in human testes, where it is found in spermatocytes and round sper- matids. From 17 patients with NOA and five with obstructive azoospermia (OA), immunohistochemistry revealed that expression of FAM160B1 is reduced, or undetectable in NOA patients, but not in OA cases or normal men. We conclude that rs7099208 is associated with NOA via a reduction in the expression of FAM160B1. 展开更多
关键词 non-obstructive azoospermia obstructive azoospermia rs7099208 FAM160B1 expressionQuantitative Trait Loci APOPTOSIS
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Testicular fine needle aspiration for sperm retrieval in non-obstructive azoospermia
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作者 YiGuo Ke-JunGuo 《Asian Journal of Andrology》 SCIE CAS CSCD 2004年第1期58-58,共1页
Objective: To investigate the feasibility of obtaining mature spermatozoa for intracytoplasmic sperm injection (ICSI) by testicular fine needle aspiration (TEFNA) in men diagnosed non-obstructive azoospermia. Methods:... Objective: To investigate the feasibility of obtaining mature spermatozoa for intracytoplasmic sperm injection (ICSI) by testicular fine needle aspiration (TEFNA) in men diagnosed non-obstructive azoospermia. Methods: TEFNA was performed in 121 patients with a mean of 15 punctures and aspirations from each testis with a #23 butterfly needle connected to a 20 mL syringe with an aspiration handle. Results: One hundred and twenty-one patients underwent 176 TEFNA cycles. Testicular sperm were recovered in 56.3 % (99/176) cycles from 57 % (69/121) of patients. The sperm recovery rate was 46.7 % (21/45) in patients with Sertoli cell-only syndrome, 45.7 % (16/35) in patients with maturation arrest, 96.1 % (25/26) in patients with hypospermatogenesis and 63.6 % (7/11) in patients of non-mosaic Klinefelter's syndrome as judged by testicular histology. No sperm were found in 3 cases with post-irradiation fibrosis and one, after resection and chemotherapy of unilateral testicular cancer. In 87 cycles of ICSI using the husbands' sperm, 591 mature oocytes were injected, 218 (36.9 %) were normally fertilized and 202 embryos developed; 178 were transferred in 62 cycles resulting in 26 pregnancies (41.9 %) with 44 gestational sacs (implantation rate: 24.7 %). Conclusion: TEFNA was an efficient, easy to learn, safe and well tolerated treatment in patients with non-obstructive azoospermia. 展开更多
关键词 fine needle aspiration intracytoplasmic sperm injection non-obstructive azoospermia
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The value of testicular 'mapping' in men with non-obstructive azoospermia 被引量:11
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作者 Monika E Beliveau Paul J Turek 《Asian Journal of Andrology》 SCIE CAS CSCD 2011年第2期225-230,共6页
As the field of assisted reproduction has advanced, many previously untreatable men are now biological fathers. Although finding sperm in men with obstructive azoospermia is not difficult, locating and retrieving sper... As the field of assisted reproduction has advanced, many previously untreatable men are now biological fathers. Although finding sperm in men with obstructive azoospermia is not difficult, locating and retrieving spermatozoa in men with non-obstructive azoospermia remains a clinical challenge, largely because sperm production in these men can be patchy or focal in nature. In response to this challenge, strategies such as fine-needle aspiration (FNA) mapping have been developed to find spermatozoa. This review discusses the history, evolution and current clinical utility and findings with FNA mapping for male infertility). Review of the current literature in the English language on FNA (diagnostic or therapeutic) with a keyword focuses on sperm detection, retrieval, safety and complications. FNA was described in human medicine over 100 years ago. Testis FNA was described 45 years ago and FNA 'mapping' of spermatozoa was described in 1997. This comparative review of the literature on sperm detection and complication rates with FNA and open testis biopsy or microdissection procedures suggests that FNA is highly informative, minimally invasive and is associated with fewer complications than other commonly used approaches to sperm detection in non-obstructive azoospermic patients. FNA mapping has gained considerable traction as an informative, 'testis sparing' technique for sperm detection in non-obstructive azoospermia. With knowledge of sperm presence and location prior to sperm retrieval, FNA maps can help clinicians tailor sperm retrieval to optimize time, effort and extent of procedures needed to procure spermatozoa in these difficult cases. 展开更多
关键词 azoospermia fine-needle aspiration HYPOGONADISM sperm mapping sperm retrieval
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Intracytoplasmic sperm injection in the treatment of male infertility due to obstructive or non-obstructive azoospermia
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作者 刘伟信 黄萍 +3 位作者 王丽 罗孟军 岳利民 郑煜 《生殖医学杂志》 CAS 2003年第z1期51-55,共5页
Objective: To evaluate the effects of intracytoplasmic sperm injection (ICSI) ontreatment of infertility due to obstructive and non-obstructive azoospermia..Methods: A retrospective analysis of fertilization, cleavage... Objective: To evaluate the effects of intracytoplasmic sperm injection (ICSI) ontreatment of infertility due to obstructive and non-obstructive azoospermia..Methods: A retrospective analysis of fertilization, cleavage, embryo implantationand pregnancy rates was done in 158 ICSI cycles including 112 obstructive azoospermiaand 46 non-obstructive azoospermia. Ovarian hyperstimulation and ICSI procedureswere performed by conventional protocol. The sperm was collected by percutaneous epi-didymal sperm aspiration (PESA) or testicular sperm extraction (TESE).Results:The fertilization rate (73.1% vs. 67.0%), cleavage rate (88.6% vs. 86.3%), embryo implantation rate (20.7% vs. 11.4%), clinical pregnancy rate per trans-fer cycle (35.7% vs. 19.6%) were obtained for obstructive and non-obstructiveazoospermia, respectively.Conclusion: The results revealed that in the cases of obstructive azoospermia, ferti-lization rate, embryo implantation rate and clinical pregnancy rate were significantlyhigher than those of non-obstructive azoospermia. But there was no significant differ-ence of the cleavage rate between two groups. 展开更多
关键词 INTRACYTOPLASMIC SPERM injection OBSTRUCTIVE azoospermia Non-ob-structive azoospermia MALE INFERTILITY
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Combined evaluation of inhibin B, follicle stimulating hormone and luteinizing hormone improve sperm retrieval prediction in patients with non-obstructive azoospermia
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作者 Bing Wang Xun-Bin Huang 《Advances in Reproductive Sciences》 2013年第1期1-5,共5页
Introduction: Non-invasive methods that can predict sperm recovery in patients with non-obstructive azoospermia (NOA) arouse interest of clinicians. The aim of this study was to evaluate the predictive value of sperm ... Introduction: Non-invasive methods that can predict sperm recovery in patients with non-obstructive azoospermia (NOA) arouse interest of clinicians. The aim of this study was to evaluate the predictive value of sperm retrieval in NOA. Materials and Methods: In the retrospective study, fine needle aspiration (FNA) was performed on 306 patients with NOA at the department of andrology, Wuhan Tongji Reproductive Medical Hospital. Inhibin B, FSH and LH plasma levels were analyzed and sperms were retrieved in 67 of 306 cases (21.89%). Results: There were statistically significant differences between successful and unsuccessful sperm recoverygroups in terms of mean serum inhibin B, FSH and LH levels. The areas under the curve (AUC) of inhibin B, FSH and LH were 0.696, 0.729 and 0.747 respectively, and the AUC for the combined value of the three hormones is 0.832. The cut-off points were 27.31 pg/ml, 11.68 IU/L and 4.04 IU/L for inhibin B, FSH and LH respectively. Conclusions: This study suggests that the combined evaluation of inhibin B, FSH and LH is a more effective predictor for successful sperm retrieval in patients with NOA before decision making of an invasive procedure than any single factor. 展开更多
关键词 non-obstructive azoospermia SPERM HORMONES PREDICTION NON-INVASIVE
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Research progress of real-time sonoelastography to evaluate testicular spermatogenic function in non-obstructive azoospermia
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作者 Yong-Chao Zhang Bin Xiao +4 位作者 Quan-Hu Ge Ran Chen Zhi-Wen Cai Bo Yang Zhi-Hua Chen 《Journal of Hainan Medical University》 2018年第5期83-86,共4页
Objective: The azoospermia is increasingly becoming prevalent year by year,which has been plaguing a great number of infertile couples. Testes biopsy is a gold index to evaluate the testicular spermatogenesis in patie... Objective: The azoospermia is increasingly becoming prevalent year by year,which has been plaguing a great number of infertile couples. Testes biopsy is a gold index to evaluate the testicular spermatogenesis in patients with anspermia. However, it is more invasive and may not accurately reflect the whole spermatogenic function of the testes. In recent years, with the continuous development of ultrasound and assisted reproductive technology, real-time sonoelastography has been widely applied in the evaluation of spermatogenic function in patients with azoospermia. It is still at the initial stage, but shows good application prospects. In this paper, we will summarize and review the present status of male infertility and the clinical application and research progress of real-time sonoelastography in the evaluation of the testicular spermatogenic function of non-obstructive azoospermia patients. 展开更多
关键词 REAL-TIME SONOELASTOGRAPHY non-obstructive azoospermia TESTICULAR SPERMATOGENESIS
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RNAs in the testicular tissue of patients with non-obstructive azoospermia
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作者 Zhe Zhang Han Wu +7 位作者 Lin Zheng Hai-Tao Zhang Yu-Zhuo Yang Jia-Ming Mao De-Feng Liu Lian-Ming Zhao Hui Liang Hui jiang 《Asian Journal of Andrology》 SCIE CAS CSCD 2022年第6期660-665,共6页
Circular RNAs(circRNAs)are highly conserved and ubiquitously expressed noncoding RNAs that participate in multiple reproductionrelated diseases.However,the expression pattern and potential functions of circRNAs in the... Circular RNAs(circRNAs)are highly conserved and ubiquitously expressed noncoding RNAs that participate in multiple reproductionrelated diseases.However,the expression pattern and potential functions of circRNAs in the testes of patients with non-obstructive azoospermia(NOA)remain elusive.In this study,according to a circRNA array,a total of 37881 circRNAs were identified that were differentially expressed in the testes of NOA patients compared with normal controls,including 19874 upregulated circRNAs and 18007 downregulated circRNAs.Using quantitative real-time polymerase chain reaction(qRT-PCR)analysis,we confirmed that the change tendency of some specific circRNAs,including hsa_circ_0137890,hsa_circ_0136298,and hsa_circ_0007273,was consistent with the microarray data in another larger sample.The structures and characteristics of these circRNAs were confirmed by Sanger sequencing,and fluorescence in situ hybridization revealed that these circRNAs were primarily expressed in the cytoplasm.Bioinformatics analysis was used to construct the competing endogenous RNA(ceRNA)network,and numerous miRNAs that could be paired with circRNAs validated in this study were reported to be vital for spermatogenesis regulation.Gene Ontology and Kyoto Encyclopedia of Genes and Genomes pathway enrichment analyses indicated that genes involved in axoneme assembly,microtubule-based processes,and cell proliferation were significantly enriched.Our data suggest that there are aberrantly expressed circRNA profiles in patients with NOA and that these circRNAs may help identify key diagnostic and therapeutic molecular biomarkers forNoA patients. 展开更多
关键词 circular RNA MICROARRAY non-obstructive azoospermia SPERMATOGENESIS testicular tissue
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The number of spermatozoa collected with testicular sperm extraction is a novel predictor of intracytoplasmic sperm injection outcome in non-obstructive azoospermic patients 被引量:2
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作者 Giorgio Cavallini Maria Cristina Magli +4 位作者 Andor Crippa Silvia Resta Giovanni Vitali Anna Pia Ferraretti Luca Gianaroli 《Asian Journal of Andrology》 SCIE CAS CSCD 2011年第2期312-316,共5页
The purpose of this study was to determine the relationships between monitors of spermatogenesis and predictors of the intracytoplasmic sperm injection (ICSI) outcome in patients with non-obstructive azoospermia (... The purpose of this study was to determine the relationships between monitors of spermatogenesis and predictors of the intracytoplasmic sperm injection (ICSI) outcome in patients with non-obstructive azoospermia (NOA) undergoing testicular sperm extraction (TESE). Seventy-nine patients with NOA (mean age: 43.6±5.2 years), each of whom yielded (97 000±3040) spermatozoa with conventional TESE, were considered in our analysis. Their partners (mean age: 35.8±5.1 years) underwent a total of 184 ICSI cycles; 632 oocytes were collected, 221 oocytes were injected, 141 oocytes were fertilized, 121 embryos were obtained, 110 embryos were transferred, 14 clinical pregnancies were achieved and only one miscarriage occurred. Multivariate regression analysis indicated relationships between the percentage of fertilized oocytes, transferred embryos and clinical pregnancies with the following variable values: female partner's age, number of spermatozoa collected, testicular volume, male partner's levels of follicle stimulating hormone (FSH), number of oocytes collected, number of oocytes injected and number of ICSI cycles. A significant inverse relationship was found between female partner's age or male partner's FSH levels and biochemical pregnancies. A significant direct relationship emerged between the number of ICS! cycles and the percentage of oocytes fertilized, embryos transferred and biochemical pregnancies, and between the number of spermatozoa collected per testicular biopsy and biochemical pregnancies. The number of spermatozoa was positively linked to the number of clinical pregnancies, independent of the number of ICSI cycles and the number of oocytes collected/injected. The number of spermatozoa collected, FSH level and testicular volume are monitors of spermatogenesis linked to ICSI success. 展开更多
关键词 conventional TESE ICSI outcomes non-obstructive azoospermia
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Myocardial infarction with non-obstructive coronary arteries: A comprehensive review and future research directions 被引量:7
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作者 Rafael Vidal-Perez Charigan Abou Jokh Casas +6 位作者 Rosa Maria Agra-Bermejo Belén Alvarez-Alvarez Julia Grapsa Ricardo Fontes-Carvalho Pedro Rigueiro Veloso Jose Maria Garcia Acuña Jose Ramon Gonzalez-Juanatey 《World Journal of Cardiology》 CAS 2019年第12期305-315,共11页
Acute coronary syndromes constitute a variety of myocardial injury presentations that include a subset of patients presenting with myocardial infarction with non-obstructive coronary arteries(MINOCA).This acute corona... Acute coronary syndromes constitute a variety of myocardial injury presentations that include a subset of patients presenting with myocardial infarction with non-obstructive coronary arteries(MINOCA).This acute coronary syndrome differs from type 1 myocardial infarction(MI)regarding patient characteristics,presentation,physiopathology,management,treatment,and prognosis.Two-thirds of MINOCA subjects present ST-segment elevation;MINOCA patients are younger,are more often female and tend to have fewer cardiovascular risk factors.Moreover,MINOCA is a working diagnosis,and defining the aetiologic mechanism is relevant because it affects patient care and prognosis.In the absence of relevant coronary artery disease,myocardial ischaemia might be triggered by an acute event in epicardial coronary arteries,coronary microcirculation,or both.Epicardial causes of MINOCA include coronary plaque disruption,coronary dissection,and coronary spasm.Microvascular MINOCA mechanisms involve microvascular coronary spasm,takotsubo syndrome(TTS),myocarditis,and coronary thromboembolism.Coronary angiography with non-significant coronary stenosis and left ventriculography are first-line tests in the differential study of MINOCA patients.The diagnostic arsenal includes invasive and non-invasive techniques.Medical history and echocardiography can help indicate vasospasm or thrombosis,if one finite coronary territory is affected,or specify TTS if apical ballooning is present.Intravascular ultrasound,optical coherence tomography,and provocative testing are encouraged.Cardiac magnetic resonance is a cornerstone in myocarditis diagnosis.MINOCA is not a benign diagnosis,and its polymorphic forms differ in prognosis.MINOCA care varies across centres,and future multi-centre clinical trials with standardized criteria may have a positive impact on defining optimal cardiovascular care for MINOCA patients. 展开更多
关键词 Myocardial infarction non-obstructive coronary Myocardial infarction with non-obstructive coronary arteries Management PROGNOSIS
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Clinical outcomes of sacral neuromodulation in non-neurogenic,non-obstructive dysuria:A 5-year retrospective,multicentre study in China 被引量:1
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作者 Ling-Feng Meng Wei Zhang +11 位作者 Jian-Ye Wang Yao-Guang Zhang Peng Zhang Li-Min Liao Jian-Wei Lv Qing Ling Zhong-Qing Wei Tie Zhong Zhi-Hui Xu Wei Wen Jia-Yi Li De-Yi Luo 《World Journal of Clinical Cases》 SCIE 2020年第12期2494-2501,共8页
BACKGROUND Management of non-neurogenic,non-obstructive dysuria represents one of the most challenging dilemmas in urological practice.The main clinical symptom is the increase in residual urine.Voiding dysfunction is... BACKGROUND Management of non-neurogenic,non-obstructive dysuria represents one of the most challenging dilemmas in urological practice.The main clinical symptom is the increase in residual urine.Voiding dysfunction is the main cause of dysuria or urinary retention,mainly due to the decrease in bladder contraction(the decrease in contraction amplitude or duration)or the increase in outflow tract resistance.Sacral neuromodulation(SNM)has been used for>10 years to treat many kinds of lower urinary tract dysfunction.It has become increasingly popular in China in recent years.Consequently,studies focusing on nonneurogenic,non-obstructive dysuria patients treated by SNM are highly desirable.AIM To assess the outcome of two-stage SNM in non-neurogenic,non-obstructive dysuria.METHODS Clinical data of 54 patients(26 men,28 women)with non-neurogenic,nonobstructive dysuria treated by SNM from January 2012 to December 2016 in ten medical centers in China were retrospectively analyzed.All patients received two or more conservative treatments.The voiding diary,urgency score,and quality of life score before operation,after implantation of tined lead in stage I(test period),and during short-term follow-up(latest follow-up)after implantation of the implanted pulse generator in stage II were compared to observe symptom improvements.RESULTS Among the 54 study patients,eight refused to implant an implanted pulse generator because of the unsatisfactory effect,and 46 chose to embed the implanted pulse generator at the end of stage I.The conversion rate of stage I to stage II was 85.2%.The average follow-up time was 18.6 mo.There were significant differences between baseline(before stage I)and the test period(after stage I)in residual urine,voiding frequency,average voiding amount,maximum voiding amount,nocturia,urgency score,and quality of life score.The residual urine and urgency score between the test period and the latest follow-up time(after stage II)were also significantly different.No significant differences were observed for other parameters.No wound infection,electrode breakage,or other irreversible adverse events occurred.CONCLUSION SNM is effective for patients with non-neurogenic,non-obstructive dysuria showing a poor response to traditional treatment.The duration of continuous stimulation may be positively correlated with the improvement of residual urine. 展开更多
关键词 DYSURIA Implanted pulse generator Non-neurogenic non-obstructive Sacral neuromodulation
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Non-obstructive coronary artery disease and cardiovascular events in patients with angina-like chest pain detected by coronary angiography:a Chinese cohort study
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作者 Huiwen Zhang Xi Zhao +3 位作者 Yuanlin Guo Naqiong Wu Chenggang Zhu Jianjun Li 《中国循环杂志》 CSCD 北大核心 2018年第S01期145-145,共1页
Objective The utility of non-obstructive coronary artery diseases(NOCAD) in cardiovascular events (CVE) among Chinese patients has less been evaluated. Our objective was to investigate the prognostic value of NOCAD in... Objective The utility of non-obstructive coronary artery diseases(NOCAD) in cardiovascular events (CVE) among Chinese patients has less been evaluated. Our objective was to investigate the prognostic value of NOCAD in patients with angina-like chest pain detected by coronary angiography (CAG) in a large Chinese cohort study. 展开更多
关键词 non-obstructive CORONARY artery diseases cardiovascular events CORONARY ANGIOGRAPHY
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Truncating PICK1 Variant Identified in Azoospermia Affected Mitochondrial Dysfunction in Knockout Mice
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作者 Yao-qiang DU Chong-yi SHU +11 位作者 Min ZHENG Wei-de XU Yue SUN Lu SHEN Chen ZHANG Yu-xin ZHANG Qian-ni WANG Kai-qiang LI Bing-yu CHEN Ke HAO Jian-xin LYU Zhen WANG 《Current Medical Science》 SCIE CAS 2023年第2期313-323,共11页
Objective The protein interacting with C kinase 1(PICK1)plays a critical role in vesicle trafficking,and its deficiency in sperm cells results in abnormal vesicle trafficking from Golgi to acrosome,which eventually di... Objective The protein interacting with C kinase 1(PICK1)plays a critical role in vesicle trafficking,and its deficiency in sperm cells results in abnormal vesicle trafficking from Golgi to acrosome,which eventually disrupts acrosome formation and leads to male infertility.Methods An azoospermia sample was filtered,and the laboratory detection and clinical phenotype indicated typical azoospermia in the patient.We sequenced all of the exons in the PICK1 gene and found that there was a novel homozygous variant in the PICK1 gene,c.364delA(p.Lys122SerfsX8),and this protein structure truncating variant seriously affected the biological function.Then we constructed a PICK1 knockout mouse model using clustered regularly interspaced short palindromic repeat cutting technology(CRISPRc).Results The sperm from PICK1 knockout mice showed acrosome and nucleus abnormalities,as well as dysfunctional mitochondrial sheath formation.Both the total sperm and motility sperm counts were decreased in the PICK1 knockout mice compared to wild-type mice.Moreover,the mitochondrial dysfunction was verified in the mice.These defects in the male PICK1 knockout mice may have eventually led to complete infertility.Conclusion The c.364delA novel variant in the PICK1 gene associated with clinical infertility,and pathogenic variants in the PICK1 may cause azoospermia or asthenospermia by impairing mitochondrial function in both mice and humans. 展开更多
关键词 PICK1 azoospermia truncating variant knockout mice mitochondrial dysfunction
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Challenges in differential diagnosis between obstructive and non-obstructive azoospermia
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作者 Safar Gamidov Taras Shatylko +4 位作者 Alikhan Tambiev Natig Gasanov Alina Popova Abdalrahman Alrawashdeh Gennadiy Sukhikh 《UroPrecision》 2024年第1期30-35,共6页
Background:Some cases of non-obstructive azoospermia(NOA)are characterized by normal clinical parameters,including testicular volume and levels of reproductive hormones,mimicking obstructive azoospermia(OA).Methods:We... Background:Some cases of non-obstructive azoospermia(NOA)are characterized by normal clinical parameters,including testicular volume and levels of reproductive hormones,mimicking obstructive azoospermia(OA).Methods:We performed a retrospective review of a consecutive series of 1417 patients undergoing primary surgical sperm retrieval between 2014 and 2023.Follicle-stimulating hormone(FSH)level below 7.6 IU/l and normal testicular size with a long axis measurement>4.6 cm were used as criteria to suspect OA.Results:Four hundred and eighteen patients with normal testicular volume and FSH levels had an initial diagnosis of OA.Among them,243(58.1%)had histological signs of spermatogenic dysfunction,and 175(41.9%)had true OA.One hundred eleven patients had long-standing obstruction(median:16.5 years)with a median Bergmann-Kliesch score(BKS)of 5(interquartile range[IQR]:4-6)and 100%sperm retrieval rate(SRR),though some required microdissection testicular sperm extraction(microTESE).Fifty-eight patients with a history of epididymo-orchitis had a median BKS of 4(IQR:2-6)and 100%SRR.Twenty patients with a history of unjustified medical treatment for male infertility had a median BKS of 3(IQR:1-4)and 80%SRR.Fifty-four patients had uniform maturation arrest with a 5.5%SRR on microTESE.Conclusion:Men with normal testicular volume and FSH level may have evidence of spermatogenic failure on pathology.Patients with complicated seminal tract obstruction commonly have hypospermatogenesis,but true NOA caused by uniform maturation arrest may also be observed.Patient counseling for suspected OA should not be overly optimistic,and couples should be warned about possibility of conversion to microTESE and risks of negative sperm retrieval. 展开更多
关键词 azoospermia male infertility sperm retrieval
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贵州苗族非梗阻性无精男性3例的Y染色体微缺失及致病候选基因
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作者 张程 李鸿婧 谭宗建 《山西医科大学学报》 CAS 2024年第3期396-398,共3页
目的研究贵州苗族无精症男性的Y染色体微缺失和致病候选基因突变。方法本研究招募苗族非梗阻性无精症男性3人,使用目标区域捕获测序及全外显子测序,分析注释到相关基因区域,解析苗族无精症男性的Y染色体微缺失及致病候选位点。结果3例... 目的研究贵州苗族无精症男性的Y染色体微缺失和致病候选基因突变。方法本研究招募苗族非梗阻性无精症男性3人,使用目标区域捕获测序及全外显子测序,分析注释到相关基因区域,解析苗族无精症男性的Y染色体微缺失及致病候选位点。结果3例苗族非梗阻性无精症患者中未发现Y染色体微缺失位点。全外显子测序结果发现USP9Y、CFTR、ZMYND15、DNAH1的突变位点,可能是苗族非梗阻性无精症的候选致病突变。结论贵州苗族男性Y染色体微缺失阴性的非梗阻性无精症可能具有特异的基因致病突变位点,在男性不育研究及临床中应引起关注。 展开更多
关键词 非梗阻性无精症 原发不育 Y染色体微缺失 全外显子测序 致病突变
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显微镜下改良单针LIVE对梗阻性无精子症患者的应用效果
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作者 杨帆 吕坤龙 +1 位作者 郑涛 张天标 《深圳中西医结合杂志》 2024年第5期19-22,共4页
目的:探讨显微镜下改良单针纵向套叠输精管附睾管吻合术(LIVE)对梗阻性无精子症(OA)患者的应用效果。方法:选取2019年10月至2023年5月郑州大学第一附属医院收治的OA患者91例作为研究对象,其中45例行显微镜下改良单针LIVE患者设为改良单... 目的:探讨显微镜下改良单针纵向套叠输精管附睾管吻合术(LIVE)对梗阻性无精子症(OA)患者的应用效果。方法:选取2019年10月至2023年5月郑州大学第一附属医院收治的OA患者91例作为研究对象,其中45例行显微镜下改良单针LIVE患者设为改良单针组,46例行显微镜下双针LIVE患者设为双针组。对两组患者手术、住院时间、复通率、术后3、6个月两组精子前向运动总活力、精子浓度、总活力水平和配偶妊娠结果进行比较。结果:与双针组患者相比较,改良单针组的手术时间较长,差异具有统计学意义(P <0.05);两组患者的住院时间比较,差异无统计学意义(P> 0.05);术后3个月,改良单针组患者的复通率为68.88%,双针组为71.73%,组间比较,差异无统计学意义(P> 0.05);相较于术后3个月,术后6个月两组患者精子前向运动总活力、精子浓度、总活力水平均有所提高,差异均具有统计学意义(P <0.05);两组患者术后3、6个月的精子前向运动总活力、精子浓度、总活力水平比较,差异均无统计学意义(P> 0.05);术后随访6个月,改良单针组患者的配偶妊娠率为35.55%,双针组为39.13%,组间比较,差异无统计学意义(P> 0.05)。结论:显微镜下改良单针LIVE治疗OA患者与双针LIVE疗效相当,相较于双针LIVE,单针LIVE的手术时间虽稍长,但其操作简单,手术材料更易获取,因此更容易普及。 展开更多
关键词 梗阻性无精子症 单针纵向套叠输精管附睾管吻合术 显微镜下手术
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非梗阻性无精子症患者睾丸显微取精病理学检查与睾丸活检组织剥离检查精子检出情况比较
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作者 王丹丹 房格 +2 位作者 于瑞梅 赵雪 刘雯 《中国性科学》 2024年第6期5-9,共5页
目的探讨非梗阻性无精子症(NOA)患者组织病理学检查与睾丸活检组织剥离检查检出精子的一致性。方法回顾性分析2020年1月至2022年12月就诊于山东大学附属生殖医院的197例男性NOA患者,均于睾丸显微取精活检手术后对睾丸组织同时进行病理... 目的探讨非梗阻性无精子症(NOA)患者组织病理学检查与睾丸活检组织剥离检查检出精子的一致性。方法回顾性分析2020年1月至2022年12月就诊于山东大学附属生殖医院的197例男性NOA患者,均于睾丸显微取精活检手术后对睾丸组织同时进行病理学检查和睾丸活检组织剥离检查,对其精子获取率进行分析。结果将患者根据病理学检查结果分为未见精子组[生精功能阻滞(MA)+唯支持细胞综合征(SCOS)]170例(86.3%)与查见精子组[生精功能低下(HS)]27例(13.7%)。睾丸活检组织剥离精子检出29例(14.7%),7例SCOS患者通过睾丸组织剥离查见精子并实施卵胞质内单精子注射(ICSI)。两种方法的精子检出率比较,差异无统计学意义(P>0.05)。卵泡刺激素(FSH)水平在两组间差异具有统计学意义(P<0.05)。结论两种方法查找精子一致率高,睾丸活检病理学检查作为病因学分析,对NOA患者再次体外取精能否成功提供预测依据,FSH水平也有助于预测能否成功取精,而睾丸组织剥离找到精子后可直接应用于人工辅助生殖技术,因此更具有决定性意义。 展开更多
关键词 男性不育症 非梗阻性无精子症 睾丸组织病理学检查 睾丸活检组织剥离检查
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生殖细胞减数分裂端粒挂膜分子机制概述
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作者 马阿妮 刘东腾 张键 《生殖医学杂志》 CAS 2024年第5期676-681,共6页
减数分裂是生殖细胞形成配子的分裂方式,染色体端粒正确锚定在核膜上是这一重要生理过程顺利进行的前提。蛋白与蛋白的相互作用使端粒悬挂在生殖细胞的核膜上,以保证减数第一次分裂前期中染色体配对、联会和同源重组的正确进行。本文对... 减数分裂是生殖细胞形成配子的分裂方式,染色体端粒正确锚定在核膜上是这一重要生理过程顺利进行的前提。蛋白与蛋白的相互作用使端粒悬挂在生殖细胞的核膜上,以保证减数第一次分裂前期中染色体配对、联会和同源重组的正确进行。本文对目前已知的减数分裂端粒挂膜相关蛋白及复合物,包括端粒保护蛋白复合物(Shelterin)、减数分裂特异的核骨架和细胞质骨架连接复合物(LINC)、内核膜相关的TERB1-TERB2-MAJIN(TTM)复合物,以及SPDYA-CDK2复合体的结构和功能方面进行概括及综述。 展开更多
关键词 减数分裂 染色体 端粒 端粒挂膜 非梗阻性无精子症
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极度少弱精子症、无精子症与精液正常患者辅助生殖助孕结局的配对病例对照研究
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作者 王苗苗 陈耀平 《宁夏医科大学学报》 2024年第6期592-597,共6页
目的研究极度少弱精子症患者、无精子症手术取精患者与精液正常患者的辅助生殖助孕结局。方法采用回顾性病例配对研究,病例来源于2014年5月至2022年12月在宁夏医科大学总医院生殖医学中心接受辅助生殖技术助孕的患者,选择首次进入周期... 目的研究极度少弱精子症患者、无精子症手术取精患者与精液正常患者的辅助生殖助孕结局。方法采用回顾性病例配对研究,病例来源于2014年5月至2022年12月在宁夏医科大学总医院生殖医学中心接受辅助生殖技术助孕的患者,选择首次进入周期的新鲜胚胎移植周期,根据男方术前精液检查筛选出极度少弱精子症患者215例为极度少弱精子症组,无精子症手术取精患者134例为无精子症手术取精组。根据研究组中夫妇双方的年龄、体质量指数(BMI)及女方的卵巢储备功能、促排卵情况等参数,选择在同一时期、首次进入周期并新鲜胚胎移植的精液分析参数正常的夫妇,按照1∶2的比例进行配对,分别筛选出430例、268例为对照组,配对比较分析极度少弱精子症组与对照组、无精子症(附睾、睾丸抽吸取精)组与对照组两组的一般情况、获卵数、MII卵率、正常受精率、正常卵裂率、优质胚胎率、囊胚培养形成率、植入率、临床妊娠率、活产率、单胎率、双胎率、单胎早产率、流产率、异位妊娠率及男女性别比例等。结果极度少弱精子症组与对照组、无精子症手术取精组与对照组的一般资料比较结果显示,男女双方患者的平均年龄、BMI、窦卵泡数(AFC)、女方基础性激素水平、抗缪勒管激素(AMH)、Gn使用总量及天数、HCG日子宫内膜厚度及E2水平比较,极度少弱精子症组、无精子症手术取精组与对照组差异均无统计学意义(P均>0.05),极度少弱精子症组、无精子症手术取精组的不孕年限均长于其对照组(P均<0.05)。极度少弱精子症组、无精子症手术取精组中MII卵率基本相近,正常受精率、正常卵裂率及优质胚胎率均高于对照组(P均<0.05),囊胚培养形成率低于对照组。极度少弱精子症组、无精子症手术取精组的植入率、活产率均高于其对照组,且在无精子症手术取精组中临床妊娠率高于对照组(P均<0.05),其余单胎率、双胎率、单胎早产率、流产率、异位妊娠率及男女性别比例等结果差异均无统计学意义(P均>0.05)。结论在首次新鲜胚胎移植周期中,男性精液常规分析中精子数量和活力及精液来源不影响辅助生殖助孕的临床妊娠结局。 展开更多
关键词 少弱精子症 无精子症 辅助生殖 妊娠结局
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