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Clinical analysis of secondary penile cancer: a case series at a tertiary referral center in China. 继发性阴茎癌的临床分析:中国一家三级转诊中心的病例系列。
IF 3 2区 医学 Q2 ANDROLOGY Pub Date : 2024-03-01 Epub Date: 2023-06-09 DOI: 10.4103/aja202319
Xiao-Yu Li, Chun-Ru Xu, Xing Ji, Zhen-Peng Zhu, Zhen-Ke Guo, Tian-Yu Cai, Jian Lin
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引用次数: 0
Testicular prostheses - impact on quality of life and sexual function. 睾丸假体--对生活质量和性功能的影响。
IF 3 2区 医学 Q2 ANDROLOGY Pub Date : 2024-03-01 Epub Date: 2023-07-11 DOI: 10.4103/aja202325
Ana Sofia Araújo, Sara Anacleto, Ricardo Rodrigues, Catarina Tinoco, Andreia Cardoso, Carlos Oliveira, Ricardo Leão

Orchiectomy is the recommended treatment for many testicular conditions. However, testicular prosthesis placement is not always performed for different reasons. In this study, we aimed to evaluate patients' opinions and the impact on sexual function and quality of life. This retrospective observational single-center study included patients who underwent orchiectomy between January 2014 and December 2020 at the Department of Urology, Braga's Hospital (Braga, Portugal), where testicular implants were always available and the decision to undergo the procedure was made fully independent of cost. Patients completed four questionnaires that assessed demographic data, satisfaction, self-esteem, and sexual function. Of the 96 patients who underwent orchidectomy, 59 replied to the questionnaires, and of these patients, 86.4% decided to undergo silicone-based testicular prostheses implantation. The remaining 13.6% refused the implant based on concerns about complications (37.5%), because they felt that it was unnecessary (37.5%), or because it was not offered by the doctor (25.0%). Overall, 96.1% of these patients were satisfied with the implant; however, 25.5% classified it as "too firm". No statistically significant differences were found in sexual function (all P > 0.05). However, it can be observed that there are more patients with prostheses presenting normal sexual activity compared to patients without prostheses (74.0% vs 50.0%), and none of them reported severe erectile dysfunction (0 vs 16.7%). Regarding self-esteem, both patients with and without prostheses present very similar average scores with no statistically significant differences. The present study highlights the highest level of satisfaction among patients who received testicular prostheses. Testicular prostheses implantation is a safe procedure that does not hamper sexual function after orchiectomy.

睾丸切除术是许多睾丸疾病的推荐治疗方法。然而,由于种种原因,睾丸假体置入术并不总是可行。本研究旨在评估患者的意见以及对性功能和生活质量的影响。这项回顾性观察性单中心研究纳入了2014年1月至2020年12月期间在布拉加医院(葡萄牙布拉加)泌尿科接受睾丸切除术的患者。患者填写了四份调查问卷,对人口统计学数据、满意度、自尊心和性功能进行了评估。在96名接受睾丸切除术的患者中,有59人回答了问卷,其中86.4%的患者决定接受硅胶睾丸假体植入术。其余 13.6% 的患者出于对并发症的担忧(37.5%)、认为没有必要(37.5%)或医生不建议(25.0%)而拒绝植入。总体而言,96.1% 的患者对植入物感到满意,但 25.5% 的患者认为植入物 "太硬"。性功能方面没有发现明显的统计学差异(P>0.05)。不过,可以观察到的是,与未安装假体的患者相比,安装了假体的患者中有更多人表现出正常的性活动(74.0% 对 50.0%),而且没有人报告有严重的勃起功能障碍(0 对 16.7%)。在自尊方面,安装假肢和未安装假肢的患者的平均得分非常接近,没有显著的统计学差异。本研究表明,接受睾丸假体的患者满意度最高。睾丸假体植入术是一种安全的手术,不会影响睾丸切除术后的性功能。
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引用次数: 0
Clinical manifestations and spermatogenesis outcomes in Chinese patients with congenital hypogonadotropic hypogonadism caused by inherited or de novo FGFR1 mutations 中国先天性性腺功能减退症患者的临床表现和精子发生结果
IF 2.9 2区 医学 Q2 ANDROLOGY Pub Date : 2024-01-09 DOI: 10.4103/aja202366
Yu-Fan Yang, Hai-Lu Ma, Xi Wang, M. Nie, Jiang-Feng Mao, Xueyan Wu
Fibroblast growth factor receptor 1 (FGFR1) mutations are associated with congenital hypogonadotropic hypogonadism (CHH) through inheritance or spontaneous occurrence. We detected FGFR1 mutations in a Chinese cohort of 210 CHH patients at Peking Union Medical College Hospital (Beijing, China) using next-generation and Sanger sequencing. We assessed missense variant pathogenicity using six bioinformatics tools and compared clinical features and treatment outcomes between inherited and de novo mutation groups. Among 19 patients with FGFR1 mutations, three were recurrent, and 16 were novel variants. Sixteen of the novel mutations were likely pathogenic according to the American College of Medical Genetics and Genomics (ACMG) guidelines, with the prevalent P366L variant. The majority of FGFR1 mutations was inherited (57.9%), with frameshift mutations exclusive to the de novo mutation group. The inherited mutation group had a lower incidence of cryptorchidism, short stature, and skeletal deformities. In the inherited mutation group, luteinizing hormone (LH) levels were 0.5 IU l−1, follicle-stimulating hormone (FSH) levels were 1.0 IU l−1, and testosterone levels were 1.3 nmol l−1. In contrast, the de novo group had LH levels of 0.2 IU l−1, FSH levels of 0.5 IU l−1, and testosterone levels of 0.9 nmol l−1, indicating milder hypothalamus–pituitary–gonadal axis (HPGA) functional deficiency in the inherited group. The inherited mutation group showed a tendency toward higher spermatogenesis rates. In conclusion, this study underscores the predominance of inherited FGFR1 mutations and their association with milder HPGA dysfunction compared to de novo mutations, contributing to our understanding of the genetic and clinical aspects of FGFR1 mutations.
成纤维细胞生长因子受体 1(FGFR1)突变与先天性性腺功能减退症(CHH)的遗传或自发性发生有关。我们利用新一代测序技术和桑格测序技术检测了中国协和医科大学附属北京协和医院 210 例 CHH 患者的 FGFR1 基因突变。我们使用六种生物信息学工具评估了错义变异的致病性,并比较了遗传突变组和新生突变组的临床特征和治疗效果。在19例FGFR1突变患者中,3例为复发性突变,16例为新型突变。根据美国医学遗传学和基因组学学院(ACMG)的指南,16个新型变异可能是致病性的,其中P366L变异最为普遍。大多数 FGFR1 变异是遗传性的(57.9%),新发突变组中只有框架移位突变。遗传突变组的隐睾症、身材矮小和骨骼畸形发生率较低。遗传突变组的黄体生成素(LH)水平为0.5 IU l-1,卵泡刺激素(FSH)水平为1.0 IU l-1,睾酮水平为1.3 nmol l-1。相比之下,新生组的LH水平为0.2 IU l-1,FSH水平为0.5 IU l-1,睾酮水平为0.9 nmol l-1,这表明遗传组的下丘脑-垂体-性腺轴(HPGA)功能缺陷程度较轻。遗传突变组的精子发生率更高。总之,这项研究强调了遗传性 FGFR1 基因突变占主导地位,而且与新发基因突变相比,遗传性 FGFR1 基因突变与较轻的 HPGA 功能障碍有关,有助于我们了解 FGFR1 基因突变的遗传和临床方面。
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引用次数: 0
Grafts in Peyronie’s surgery without the use of prostheses: a systematic review and meta-analysis 佩罗尼氏手术中不使用假体的移植物:系统回顾和荟萃分析
IF 2.9 2区 医学 Q2 ANDROLOGY Pub Date : 2024-01-09 DOI: 10.4103/aja202358
A. Natsos, V. Tatanis, S. Kontogiannis, Sharon Waisbrod, K. Gkeka, Mohamed Obaidad, A. Peteinaris, K. Pagonis, Costas Papadopoulos, P. Kallidonis, E. Liatsikos, Petros Drettas
Peyronie’s disease (PD) is characterized by abnormal penile curvature, and various surgical methods have been developed using different graft materials. However, there is currently no universal agreement on which type of graft is the best. The objective of this review was to evaluate the available literature and identify the most effective graft material for penile curvature correction in PD. A literature search was conducted using electronic databases, including PubMed, Scopus, and the Cochrane Library. The patients, intervention, comparison, and outcome (PICO) approach was used to define the eligibility of studies. Two authors independently selected studies, evaluated them, and extracted data. Random-effect models using the DerSimonian–Laird method were used. Most studies were single-arm studies and had a high risk of bias. Buccal mucosa grafts (BMG) were found to result in the highest penile straightening rates and were associated with the least de novo erectile dysfunction. TachoSil grafts demonstrated a high success rate in straightening despite a higher mean preoperative curvature, while Tutoplast grafts had a higher incidence of postoperative erectile dysfunction. BMG had the highest percentage of postoperative penile straightening. Overall, the TachoSil graft showed the best performance when preoperative curvature is taken into account. Based on the available literature, BMG appear to be the most effective for penile curvature correction in PD, but this is offset by the requirement for low preoperative curvature. The TachoSil graft shows the best overall performance when preoperative curvature is considered. Comparative randomized clinical trials are still needed to determine graft superiority.
佩罗尼氏病(Peyronie's disease,PD)的特征是阴茎弯曲异常,目前已开发出使用不同移植材料的各种手术方法。然而,关于哪种移植材料最好,目前还没有统一的意见。本综述的目的是评估现有文献,确定用于阴茎弯曲矫正的最有效移植材料。我们使用 PubMed、Scopus 和 Cochrane 图书馆等电子数据库进行了文献检索。采用患者、干预、比较和结果(PICO)的方法来确定研究的资格。两位作者独立选择研究、评估研究并提取数据。采用 DerSimonian-Laird 方法建立随机效应模型。大多数研究为单臂研究,偏倚风险较高。研究发现,颊粘膜移植(BMG)可带来最高的阴茎矫直率,且与新发勃起功能障碍的相关性最小。TachoSil移植物尽管术前平均弯曲度较高,但矫直成功率很高,而Tutoplast移植物术后勃起功能障碍的发生率较高。BMG 术后阴茎变直的比例最高。总体而言,如果考虑到术前弯曲度,TachoSil移植物的性能最佳。根据现有文献,BMG 似乎对阴茎发育不良患者的阴茎弯曲矫正最有效,但由于术前弯曲度要求较低,这一点被抵消了。如果考虑到术前曲率,TachoSil移植物的整体性能最佳。要确定移植物的优越性,仍需进行随机临床对比试验。
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引用次数: 0
Novel variants in DNAH6 cause male infertility associated with multiple morphological abnormalities of the sperm flagella (MMAF) and ICSI outcomes. DNAH6的新型变体会导致与精子鞭毛多种形态异常(MMAF)和ICSI结果相关的男性不育症。
IF 3 2区 医学 Q2 ANDROLOGY Pub Date : 2024-01-01 Epub Date: 2023-08-11 DOI: 10.4103/aja202328
Zhong-Mei Shao, Yu-Tong Zhu, Meng Gu, Sen-Chao Guo, Hui Yu, Kuo-Kuo Li, Dong-Dong Tang, Yu-Ping Xu, Ming-Rong Lv

Variations in the dynein axonemal heavy chain gene, dynein axonemal heavy chain 6 ( DNAH6 ), lead to multiple morphological abnormalities of the flagella. Recent studies have reported that these deficiencies may result in sperm head deformation. However, whether DNAH6 is also involved in human acrosome biogenesis remains unknown. The purpose of this study was to investigate DNAH6 gene variants and their potential functions in the formation of defective sperm heads and flagella. Whole-exome sequencing was performed on a cohort of 375 patients with asthenoteratozoospermia from the First Affiliated Hospital of Anhui Medical University (Hefei, China). Hematoxylin and eosin staining, scanning electron microscopy, and transmission electron microscopy were performed to analyze the sperm morphology and ultrastructure. Immunofluorescence staining and Western blot analysis were conducted to examine the effects of genetic variants. We identified three novel deleterious variants in DNAH6 among three unrelated families. The absence of inner dynein arms and radial spokes was observed in the sperm of patients with DNAH6 variants. Additionally, deficiencies in the acrosome, abnormal chromatin compaction, and vacuole-containing sperm heads were observed in these patients with DNAH6 variants. The decreased levels of the component proteins in these defective structures were further confirmed in sperm from patients with DNAH6 variants using Western blot. After intracytoplasmic sperm injection (ICSI) treatment, the partner of one patient with a DNAH6 variant achieved successful pregnancy. Overall, novel variants in DNAH6 genes that contribute to defects in the sperm head and flagella were identified, and the findings indicated ICSI as an effective clinical treatment for such patients.

动力蛋白轴丝重链基因(动力蛋白轴丝重链 6,DNAH6)的变异会导致鞭毛的多种形态异常。最近的研究报告称,这些缺陷可能导致精子头部变形。然而,DNAH6是否也参与人类顶体生物发生仍是未知数。本研究旨在调查DNAH6基因变异及其在精子头部和鞭毛缺陷形成过程中的潜在功能。研究人员对安徽医科大学第一附属医院(中国合肥)的375名弱精症患者进行了全基因组测序。对精子的形态和超微结构进行了血红素和伊红染色、扫描电子显微镜和透射电子显微镜分析。免疫荧光染色和 Western 印迹分析用于检测基因变异的影响。我们在三个无血缘关系的家庭中发现了DNAH6的三个新的有害变异。在DNAH6变异体患者的精子中观察到缺乏内动力臂和径向辐条。此外,在这些DNAH6变异体患者的精子中还观察到顶体缺陷、染色质压实异常和含液泡的精子头部。使用 Western 印迹法进一步证实了 DNAH6 变异患者精子中这些缺陷结构的组成蛋白水平降低。经过卵胞浆内单精子注射(ICSI)治疗后,一名DNAH6变异体患者的伴侣成功怀孕。总之,鉴定出了导致精子头部和鞭毛缺陷的DNAH6基因新变异,研究结果表明卵胞浆内单精子注射是治疗此类患者的有效临床方法。
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引用次数: 0
Comparison of cytokine levels in prostatic secretion between the IIIa and IIIb subtypes of prostatitis. IIIa 和 IIIb 亚型前列腺炎前列腺分泌物中细胞因子水平的比较。
IF 3 2区 医学 Q2 ANDROLOGY Pub Date : 2024-01-01 Epub Date: 2023-08-22 DOI: 10.4103/aja202336
Cheng-Lin Han, Yu-Xuan Deng, Peng Hu, Bin-Tao Hu, Tao Wang, Ji-Hong Liu, Ming-Chao Li

Chronic prostatitis/chronic pelvic pain syndrome (CP/CPPS), also known as National Institutes of Health (NIH) type III prostatitis, is a common disorder with an unclear etiology and no known curative treatments. Based on the presence or absence of leukocytes in expressed prostatic secretion (EPS), CP/CPPS is classified further into IIIa (inflammatory) and IIIb (noninflammatory) subtypes. However, the severity of symptoms is not entirely consistent with the white blood cell (WBC) count. Following the preliminary finding of a link between inflammatory cytokines and CP/CPPS, we performed this clinical study with the aim of identifying cytokines that are differentially expressed according to whether the prostatitis subtype is IIIa or IIIb. We found that granulocyte colony-stimulating factor (G-CSF), interleukin-18 (IL-18), and monocyte chemoattractant protein-1 (MCP-1) levels were significantly elevated and interferon-inducible protein-10 (IP-10) and platelet-derived growth factor-BB (PDGF-BB) levels were downregulated in the EPS of patients with type IIIa prostatitis. In a word, it is a meaningful study in which we investigate the levels of various cytokines in EPS according to whether prostatitis is the IIIa or IIIb subtype. The combination of G-CSF, IL-18, MCP-1, IP-10, and PDGF-BB expression levels could form a basis for classification, diagnosis, and therapeutic targets in clinical CP/CPPS.

慢性前列腺炎/慢性盆腔疼痛综合征(CP/CPPS)又称美国国立卫生研究院(NIH)III 型前列腺炎,是一种常见疾病,病因不明,目前尚无治疗方法。根据前列腺分泌物(EPS)中是否存在白细胞,CP/CPPS 又可分为 IIIa(炎症性)和 IIIb(非炎症性)亚型。然而,症状的严重程度与白细胞(WBC)计数并不完全一致。在初步发现炎性细胞因子与 CP/CPPS 之间的联系后,我们进行了这项临床研究,目的是找出根据前列腺炎亚型是 IIIa 还是 IIIb 而有不同表达的细胞因子。我们发现,在 IIIa 型前列腺炎患者的 EPS 中,粒细胞集落刺激因子(G-CSF)、白细胞介素-18(IL-18)和单核细胞趋化蛋白-1(MCP-1)水平显著升高,而干扰素诱导蛋白-10(IP-10)和血小板衍生生长因子-BB(PDGF-BB)水平下调。总之,这是一项有意义的研究,我们根据前列腺炎是 IIIa 还是 IIIb 亚型来研究 EPS 中各种细胞因子的水平。结合 G-CSF、IL-18、MCP-1、IP-10 和 PDGF-BB 的表达水平,可以为临床 CP/CPPS 的分类、诊断和治疗目标提供依据。
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引用次数: 0
Sperm acrosin activity may be a useful factor in choosing between ICSI and IVF for infertile male patients. 精子顶体酶活性可能是男性不育患者在选择卵胞浆内单精子显微注射(ICSI)还是体外受精(IVF)时的一个有用因素。
IF 3 2区 医学 Q2 ANDROLOGY Pub Date : 2024-01-01 Epub Date: 2023-08-22 DOI: 10.4103/aja202337
Ye-Na Hu, Liang Hu, Xin-Yu Yin, Huan Zhang, Yang-Qin Peng, Gang Liu, Ge Lin, Wei-Na Li

The clinical applications of acrosin activity are limited. We analyzed 61 578 male partners in infertile couples who visited the outpatient department of the Reproductive and Genetic Hospital of CITIC-Xiangya (Changsha, China) between August 2014 and December 2019 to determine the reference ranges and thresholds for acrosin activity in infertile Chinese men; to determine whether correlations exist between acrosin activity and age, sperm concentration, sperm morphology, or sperm motility; and to evaluate whether acrosin activity could serve as an effective prognostic indicator for choosing between in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) in the clinic. The cut-off value for the normal reference range of acrosin activity for male partners in infertile couples was 24.78 µIU per 10 6 sperm. There was no significant association between acrosin activity and age, sperm concentration, semen volume, total sperm count, progressive motility, or total motile spermatozoa. A weak positive correlation was found between acrosin activity and normal sperm morphology. There was a statistically significant difference in abnormal acrosome morphology between the group with high acrosin activity (>24.78 µIU per 10 6 sperm) and the group with low acrosin activity (<24.78 µIU per 10 6 sperm). The group with a low IVF fertilization rate had a high index of abnormal acrosomal morphology at 21.2%, while the group with a high IVF fertilization rate had a low index of 0.2%. At an acrosin activity of <24.78 µIU per 10 6 sperm, in one cycle of the same patient, the fertilization rate, normal fertilization rate, and good-quality embryo rate for ICSI were significantly higher than those for IVF. Therefore, the most promising application of acrosin activity could be in the selection of ICSI over IVF for infertile male patients with complete fertilization failure or a low fertilization rate.

顶体蛋白活性的临床应用非常有限。我们分析了2014年8月至2019年12月期间在中信湘雅生殖与遗传医院(中国长沙)门诊部就诊的61 578对不育夫妇中的男性伴侣,以确定中国不育男性顶体蛋白活性的参考范围和阈值;确定顶体蛋白活性与年龄、精子浓度、精子形态或精子活力之间是否存在相关性;评估顶体蛋白活性是否可作为临床选择体外受精(IVF)或卵胞浆内单精子显微注射(ICSI)的有效预后指标。不育夫妇男性伴侣顶体酶活性正常参考范围的临界值为每 106 个精子 24.78 μIU。顶体酶活性与年龄、精子浓度、精液量、精子总数、精子活动力和活动精子总数之间没有明显的关联。顶体酶活性与正常精子形态之间存在微弱的正相关。高顶体蛋白活性组(每 106 个精子中 >24.78 μIU )与低顶体蛋白活性组(每 106 个精子中 >24.78 μIU )之间在顶体形态异常方面存在显著的统计学差异。
{"title":"Sperm acrosin activity may be a useful factor in choosing between ICSI and IVF for infertile male patients.","authors":"Ye-Na Hu, Liang Hu, Xin-Yu Yin, Huan Zhang, Yang-Qin Peng, Gang Liu, Ge Lin, Wei-Na Li","doi":"10.4103/aja202337","DOIUrl":"10.4103/aja202337","url":null,"abstract":"<p><p>The clinical applications of acrosin activity are limited. We analyzed 61 578 male partners in infertile couples who visited the outpatient department of the Reproductive and Genetic Hospital of CITIC-Xiangya (Changsha, China) between August 2014 and December 2019 to determine the reference ranges and thresholds for acrosin activity in infertile Chinese men; to determine whether correlations exist between acrosin activity and age, sperm concentration, sperm morphology, or sperm motility; and to evaluate whether acrosin activity could serve as an effective prognostic indicator for choosing between in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) in the clinic. The cut-off value for the normal reference range of acrosin activity for male partners in infertile couples was 24.78 µIU per 10 6 sperm. There was no significant association between acrosin activity and age, sperm concentration, semen volume, total sperm count, progressive motility, or total motile spermatozoa. A weak positive correlation was found between acrosin activity and normal sperm morphology. There was a statistically significant difference in abnormal acrosome morphology between the group with high acrosin activity (>24.78 µIU per 10 6 sperm) and the group with low acrosin activity (<24.78 µIU per 10 6 sperm). The group with a low IVF fertilization rate had a high index of abnormal acrosomal morphology at 21.2%, while the group with a high IVF fertilization rate had a low index of 0.2%. At an acrosin activity of <24.78 µIU per 10 6 sperm, in one cycle of the same patient, the fertilization rate, normal fertilization rate, and good-quality embryo rate for ICSI were significantly higher than those for IVF. Therefore, the most promising application of acrosin activity could be in the selection of ICSI over IVF for infertile male patients with complete fertilization failure or a low fertilization rate.</p>","PeriodicalId":8483,"journal":{"name":"Asian Journal of Andrology","volume":" ","pages":"85-90"},"PeriodicalIF":3.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10846826/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10554837","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Nitro-oleic acid ameliorates erectile dysfunction in a streptozotocin-induced rat model of diabetes by inhibiting oxidative stress and apoptosis and activating the NO/cGMP pathway. 硝基油酸通过抑制氧化应激和细胞凋亡以及激活 NO/cGMP 通路,改善链脲佐菌素诱导的糖尿病大鼠模型中的勃起功能障碍。
IF 3 2区 医学 Q2 ANDROLOGY Pub Date : 2024-01-01 Epub Date: 2023-08-08 DOI: 10.4103/aja202331
Chang-Bo Zhao, Wei-Bo Chen, Wen-Zhen Wang, Fang-Xin Gong, Cui-Qin Fan, Ye Li, Tian Lan, Wen-Jing Wang, Ming-Zhen Yuan

The major vascular complications associated with diabetes make the management of diabetic mellitus erectile dysfunction (DMED) a challenging endeavor. Notable factors contributing to DMED include oxidative stress, nitric oxide (NO)/cyclic guanosine monophosphate (cGMP) pathway activation, and apoptosis, while nitro-oleic acid (NO 2 -OA) has been shown to be beneficial in treating these aspects of this condition. We, herein, investigated the effects and possible mechanisms of NO 2 -OA on erectile function as assessed in a streptozotocin-induced rat model of diabetes. Our results revealed that the erectile function of DMED rats was significantly impaired compared with that of the control group. However, in response to 4 weeks of NO 2 -OA treatment, there was an improvement in erectile function. The expression of oxidative stress-related indicators was significantly increased and the NO/cGMP pathway was impaired in the DMED group. The expression of proapoptotic factors was increased, while that of antiapoptotic factors was decreased in the DMED group. Moreover, the cell morphology in the cavernous tissue of the DMED group also changed adversely. NO 2 -OA treatment significantly reversed all these changes observed in the DMED group. In conclusion, NO 2 -OA treatment partially improved erectile function in DMED rats through mechanisms that included inhibition of oxidative stress, activation of the NO/cGMP pathway, and a reduction in apoptosis.

与糖尿病相关的主要血管并发症使糖尿病性勃起功能障碍(DMED)的治疗成为一项具有挑战性的工作。导致勃起功能障碍的主要因素包括氧化应激、一氧化氮(NO)/单磷酸环鸟苷(cGMP)通路激活和细胞凋亡,而硝基油酸(NO2-OA)已被证明有利于治疗这种疾病的这些方面。我们在此研究了 NO2-OA 对链脲佐菌素诱导的糖尿病大鼠勃起功能的影响和可能机制。结果显示,与对照组相比,DMED 大鼠的勃起功能明显受损。然而,经过4周的NO2-OA治疗后,大鼠的勃起功能有所改善。在DMED组中,氧化应激相关指标的表达明显增加,NO/cGMP通路受损。DMED组促凋亡因子的表达增加,而抗凋亡因子的表达减少。此外,DMED 组海绵组织的细胞形态也发生了不良变化。NO2-OA 治疗明显逆转了在 DMED 组观察到的所有这些变化。总之,NO2-OA治疗通过抑制氧化应激、激活NO/cGMP途径和减少细胞凋亡等机制,部分改善了DMED大鼠的勃起功能。
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引用次数: 0
The identification of AMZ2 as a candidate causative gene in a severe teratozoospermia patient characterized by vacuolated spermatozoa. 在一名以空泡精子为特征的重度畸形精子症患者身上发现 AMZ2 作为候选致病基因。
IF 3 2区 医学 Q2 ANDROLOGY Pub Date : 2024-01-01 Epub Date: 2023-07-14 DOI: 10.4103/aja202321
Liu Liu, Jing Yang, Wen-Jing Zhang, Yi-Ling Zhou, Gui-Jun Zhao, Ya Huang, Shu-Yan Tang

Teratozoospermia with cephalic defects is one of the most severe types of sperm defects known to date. While several monogenic factors are linked to cephalic abnormalities, such as globozoospermia and macrozoospermia, the genetic cause of vacuolated spermatozoa remains inadequately described. Here, we analyzed whole-exome sequencing (WES) data for an individual from a consanguineous family with severely vacuolated spermatozoa. The analysis revealed a novel homozygous c.520A>G (p.Thr174Ala) variant in the archaelysin family metallopeptidase 2 ( AMZ2 ), a gene that encodes a zinc metalloprotease previously shown to be highly expressed in the testes and sperm. Multiple algorithms predicted this variant to be a damaging mutation. Consistent with an autosomal recessive mode of inheritance, this variant was inherited from heterozygous parental carriers. To investigate the potential pathogenicity of the identified variant, we compared the AMZ2 expression in sperm cells from the patient with the AMZ2 variant and from a healthy control. Immunoblot analysis revealed that the homozygous missense variant in AMZ2 abolished AMZ2 expression in the spermatozoa. Our findings reveal a candidate causative gene for vacuolated spermatozoa.

伴有头状缺陷的畸形精子症是目前已知的最严重的精子缺陷类型之一。虽然有几种单基因因素与头精子异常(如球形无精子症和大无精子症)有关,但对空泡精子症的遗传原因仍缺乏充分的描述。在此,我们分析了一个患有严重空泡精子症的近亲家庭的全外显子组测序(WES)数据。该分析揭示了弓形虫蛋白家族金属肽酶 2(AMZ2)中的一个新型同源 c.520A>G(p.Thr174Ala)变异,该基因编码一种锌金属蛋白酶,以前曾被证明在睾丸和精子中高度表达。多种算法预测这种变异是一种损伤性突变。与常染色体隐性遗传模式一致的是,该变异基因遗传自父母的杂合子携带者。为了研究该变异体的潜在致病性,我们比较了AMZ2变异体患者和健康对照组精子细胞中AMZ2的表达。免疫印迹分析表明,AMZ2 的同源错义变体会降低精子中 AMZ2 的表达。我们的研究结果揭示了空泡精子症的候选致病基因。
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引用次数: 0
Identification of two compound heterozygous GNRHR mutations in two siblings with congenital hypogonadotropic hypogonadism. 在两个患有先天性性腺功能减退症的兄弟姐妹中发现两个复合杂合GNRHR突变。
IF 3 2区 医学 Q2 ANDROLOGY Pub Date : 2024-01-01 Epub Date: 2023-06-16 DOI: 10.4103/aja20232
Xiao-Bin Wang, Ping Chen, Xue-Er Yu, Zu-Liang Yao, Ting-Chao Guo, Bo-Chen Pan
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引用次数: 0
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Asian Journal of Andrology
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