Translational andrology and urology最新文献

{"title":"Establishment and clinical significance of genetic factor screening method for patients with nonobstructive azoospermia based on whole exon sequencing technology.","authors":"Wenliang Yao, Jingwen Fu, Duanjun Zhang, Shenghui Chen, Yuliang Zhou, Xianglong Jiang, Xiaoting Zheng, Mingliang Zhang, Feihua Wu","doi":"10.21037/tau-2024-676","DOIUrl":"https://doi.org/10.21037/tau-2024-676","url":null,"abstract":"<p><strong>Background: </strong>Non-obstructive azoospermia (NOA) is a severe form of male infertility, affecting 10-20% of azoospermic men. Although some NOA genes have been identified, the genetic causes of spermatogenesis failure in NOA remain unclear. This study aimed to identify and characterize genes and mutations associated with NOA.</p><p><strong>Methods: </strong>Thirty NOA patients were selected for whole-exome sequencing (WES). Patients with chromosomal abnormalities, chromosome copy number issues, or Y chromosome microdeletions were excluded. Relevant genes and mutations in NOA patients were comprehensively screened using WES, MutationTaster software, and related databases. Sequencing results were analyzed for allele screening, mutation deleteriousness, and mutation site prediction to identify potential NOA-associated genes. The study also predicted altered gene function due to mutations and assessed pathogenicity from DNA sequence alterations.</p><p><strong>Results: </strong>The study screened 37 genes with 56 variant loci, identifying 27 genes with 34 variant loci related to NOA, including <i>CFAP65</i>, <i>SEPTIN12</i>, <i>ZMYND15</i>, <i>DNAH2</i>, <i>CEP112</i>, <i>SHOC1</i>, <i>DNAH10</i>, <i>ACTL9</i>, <i>CFAP43</i>, <i>DNAH17</i>, <i>DNAH1</i>, <i>ARMC2</i>, <i>AK7</i>, <i>PMFBP1</i>, <i>FSIP2</i>, <i>SPATA16</i>, <i>TSGA10</i>, <i>SPEF2</i>, <i>CFAP69</i>, <i>TTC21A</i>, <i>NDNF</i>, <i>ADCY10</i>, <i>GATA4</i>, <i>CYP17A1</i>, <i>CHD7</i>, <i>CHD7</i>, <i>SEMA3A</i>, and <i>CFTR</i>. Notable findings included the variant c.1223C>A p.S408* in the <i>CFAP65</i> gene and potential associations of genes such as <i>CFAP43</i>, <i>CFAP69</i>, <i>ZMYND15</i>, <i>DNAH17</i>, and <i>DNAH2</i> with spermatogenic disorders.</p><p><strong>Conclusions: </strong>The study identified genes related to spermatogenic disorders in azoospermia, providing a reference for clinical genetic diagnosis and basic NOA research.</p>","PeriodicalId":23270,"journal":{"name":"Translational andrology and urology","volume":"14 4","pages":"1005-1014"},"PeriodicalIF":1.9,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12076239/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144079814","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sexual wellbeing support for men with prostate cancer: a qualitative study with patients.","authors":"Megan Charlick, Michael Murphy, Barbara Murphy, Kerry Ettridge, Michael O'Callaghan, Sally Sara, Alexandar Jay, Kerri Beckmann","doi":"10.21037/tau-2024-682","DOIUrl":"https://doi.org/10.21037/tau-2024-682","url":null,"abstract":"<p><strong>Background: </strong>Sexual concerns remain the most frequently reported unmet need among men with prostate cancer. We aimed to explore patient's experiences seeking and receiving sexual wellbeing support after prostate cancer treatment, to ultimately identify areas which should be prioritised for improvement, as informed by the patients themselves.</p><p><strong>Methods: </strong>Prostate cancer patients between 18-36 months post-treatment participated in semi-structured interviews. Interviews were conducted via video conference, transcribed verbatim, and thematically analysed. Interviews explored cancer experience, sexual support sought/received, and barriers to obtaining/receiving sexual wellbeing support.</p><p><strong>Results: </strong>Most men relied on their treating clinician or specialist nurse for information about sexual wellbeing, though some consulted other professionals (physiotherapists, sexologists), peak bodies, the internet, or other men with prostate cancer. Information received was often fragmented, not specific to individuals' needs, or given at the wrong time or with limited follow-up. Barriers to help-seeking included the higher priority to be \"cancer free\", embarrassment, concerns about overburdening healthcare professionals, the perceived reluctance of clinicians to discuss sexual wellbeing and limited time for discussion. Continuity of care, accessibility of sexual-wellbeing experts, involvement of partners and personalised information were perceived as facilitating help-seeking for sexual health concerns.</p><p><strong>Conclusions: </strong>To address the numerous shortcomings and barriers to seeking and receiving sexual wellbeing support, men with prostate cancer recommended that support should be provided both pre- and post-treatment, preferably by a healthcare professional trained to provide personalised and evidence-based sexual-wellbeing care. The sexual health needs of men with prostate cancer may be better met through ensuring men have continuing access to sexual wellbeing experts who can provide personalised support.</p>","PeriodicalId":23270,"journal":{"name":"Translational andrology and urology","volume":"14 4","pages":"913-927"},"PeriodicalIF":1.9,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12076225/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144080539","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Changes in the prostate biopsy landscape-how can we improve quality?","authors":"Arnav Srivastava, Tudor Borza, Simpa S Salami","doi":"10.21037/tau-2025-34","DOIUrl":"https://doi.org/10.21037/tau-2025-34","url":null,"abstract":"","PeriodicalId":23270,"journal":{"name":"Translational andrology and urology","volume":"14 4","pages":"880-882"},"PeriodicalIF":1.9,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12076228/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144080650","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Efficacy of microsurgical denervation of the spermatic cord in patients with chronic scrotal pain following unsuccessful varicocelectomy.","authors":"Le Anh Tuan, Mai Ba Tien Dung, Le Dinh Hieu, Vu Le Chuyen, Viet Nhat Tan Mai, Adnan El-Achkar, Muhammed A Moukhtar Hammad, Tuan Thanh Nguyen","doi":"10.21037/tau-2024-719","DOIUrl":"https://doi.org/10.21037/tau-2024-719","url":null,"abstract":"<p><strong>Background: </strong>Chronic scrotal pain (CSP) frequently persists following varicocelectomy, significantly impacting patients' quality of life and posing considerable therapeutic challenges. Recently, microsurgical denervation of the spermatic cord (MDSC) has emerged as a promising surgical alternative for managing CSP refractory to conventional varicocelectomy. This study evaluates the efficacy of MDSC as a treatment for CSP in patients who did not achieve symptomatic relief after varicocelectomy.</p><p><strong>Methods: </strong>From March 2021 to March 2023, we conducted a retrospective cohort study of 45 male patients aged ≥18 years with persistent CSP following varicocelectomy. Inclusion criteria included patients unresponsive for more than three months post-varicocelectomy to medical treatments, including nonsteroidal anti-inflammatory drugs (NSAIDs), antidepressants, and anticonvulsants, and who demonstrated significant pain reduction following a spermatic cord block (SCB). Pain was assessed using the Numeric Rating Scale (NRS), a self-reported tool ranging from 0 to 10. All patients underwent MDSC based on their positive response to SCB.</p><p><strong>Results: </strong>The average follow-up period was 14.0 months. Participants experienced significant pain reduction, with mean NRS pain scores decreasing from 7.5 pre-treatment to 1.7 following the SCB, and slightly rising to 1.8 post-operation. Significant pain relief, defined as a reduction of more than 50% in NRS score, was observed in 84.4% of cases. Minimal complications were reported, including one instance of surgical site infection, one case of postoperative bleeding, and two occurrences of numbness and burning sensations.</p><p><strong>Conclusions: </strong>MDSC is a safe and effective option for the management of CSP in patients unresponsive to varicocelectomy, providing substantial pain relief with minimal complications.</p>","PeriodicalId":23270,"journal":{"name":"Translational andrology and urology","volume":"14 4","pages":"1015-1024"},"PeriodicalIF":1.9,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12076242/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144079812","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparing the long-term prognosis and renal function changes of partial nephrectomy (PN) and radical nephrectomy (RN) in T1 stage renal cell carcinoma patients.","authors":"Yudong Cao, Yushuang Cui, Ruojing Li, Xingxing Tang, Chen Lin, Xiao Yang, Jia Liu, Qiang Zhao, Jinchao Ma, Artur de Oliveira Paludo, Benjamin N Schmeusser, Shuo Wang, Peng Du","doi":"10.21037/tau-2025-136","DOIUrl":"https://doi.org/10.21037/tau-2025-136","url":null,"abstract":"<p><strong>Background: </strong>Radical nephrectomy (RN) and partial nephrectomy (PN) are common surgical treatments for T1 stage renal cell carcinoma (RCC). However, the long-term impact of these surgical approaches on prognosis and renal function remains an area of ongoing investigation. This study compared the effects of these procedures on prognosis and renal function.</p><p><strong>Methods: </strong>The data of 1,030 T1 stage RCC patients treated at Peking University Cancer Hospital & Institute between January 2014 and August 2022 were analyzed. The primary endpoints of the study were overall survival (OS) and cancer-specific survival (CSS). The secondary endpoints included the annual mean estimated glomerular filtration rate (eGFR) and the average annual eGFR change rates.</p><p><strong>Results: </strong>Based on a median follow-up time of 57 months, the OS and CSS rates were 96.6% and 98.5% in the overall cohort, respectively. The multivariate analysis identified age [hazard ratio (HR), 2.664; 95% confidence interval (CI): 1.147-6.192; P=0.02], tumor grade (HR, 2.247; 95% CI: 1.050-4.810; P=0.04), and surgical approach (HR, 2.585; 95% CI: 1.056-6.325; P=0.04) as adverse prognostic factors for OS, and age (HR, 4.603; 95% CI: 1.035-20.471; P=0.045) and tumor grade (HR, 4.972; 95% CI: 1.752-14.111; P=0.003) as adverse prognostic factors for CSS. Throughout the follow-up period, the eGFR of the RN patients showed a gradual increase, while that of the PN patients remained stable (P<0.001). Among the patients with preoperative diabetes, the eGFR of the RN patients decreased significantly compared to that of the PN patients (P=0.03).</p><p><strong>Conclusions: </strong>T1 stage RCC has a favorable prognosis with surgery, and PN is an oncologically safe option. A persistent eGFR difference was observed between the PN and RN groups, with RN showing a gradual upward trend. However, patients with pre-existing diabetes experienced a greater decline in renal function after RN, which highlights the advantages of PN for such patients.</p>","PeriodicalId":23270,"journal":{"name":"Translational andrology and urology","volume":"14 3","pages":"740-750"},"PeriodicalIF":1.9,"publicationDate":"2025-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11986548/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144014499","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Erratum: Efficacy and safety of holmium laser enucleation of the prostate for elderly patients: surgical outcomes and King's Health Questionnaire.","authors":"","doi":"10.21037/tau-2025b-01","DOIUrl":"https://doi.org/10.21037/tau-2025b-01","url":null,"abstract":"<p><p>[This corrects the article DOI: 10.21037/tau-20-1309.].</p>","PeriodicalId":23270,"journal":{"name":"Translational andrology and urology","volume":"14 3","pages":"863"},"PeriodicalIF":1.9,"publicationDate":"2025-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11986490/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144036277","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prognostic outcomes of surgical modalities and predictive factors for distant metastases in T1a renal cell carcinoma: a SEER database analysis.","authors":"Cong Tian, Jun Liu, Yueyao Wang, Lizhe An, Yang Hong, Haopu Hu, Mingrui Wang, Xiaolong Bian, Jinhui Lai, Hao Hu","doi":"10.21037/tau-2024-637","DOIUrl":"https://doi.org/10.21037/tau-2024-637","url":null,"abstract":"<p><strong>Background: </strong>Distant metastases can still occur in T1a renal cancer. There is no conclusive evidence to determine whether cytoreductive partial nephrectomy (cPN) or cytoreductive radical nephrectomy (cRN) is superior in managing primary renal lesions. This study aimed to compare survival outcomes between cPN and cRN in pathological T1a renal cell carcinoma (RCC) patients with distant metastases and to develop a predictive model for metastasis risk stratification.</p><p><strong>Methods: </strong>T1a RCC patients were extracted from the Surveillance, Epidemiology, and End Results (SEER) database. Prognostic comparisons were made using Kaplan-Meier analysis. Univariate and multivariate logistic regression analyses were conducted to assess the risk factors for distant metastases in T1a RCC, leading to the development of a predictive model. The model's performance was evaluated using receiver operating characteristic (ROC) curves.</p><p><strong>Results: </strong>The study included 55,957 RCC patients with pathologic T1a, of which 1,496 (2.67%) with distant metastases. Metastatic patients exhibited significantly worse overall survival (OS) than non-metastatic counterparts (P<0.001). There was no notable difference in OS between cPN and cRN (P=0.11). Univariate and multivariate analyses identified advanced age, male gender, poor histological differentiation, sarcomatoid features, capsular invasion, and lymph node metastasis as independent risk factors for distant metastases in RCC patients with stage T1a. The predictive model established on these factors demonstrated performance with an area under the curve of 0.789.</p><p><strong>Conclusions: </strong>There was no significant difference in OS between cPN and cRN. Advanced age, male gender, poor histological differentiation, capsular invasion, sarcomatoid features, and lymph node metastasis were independent risk factors for distant metastases in RCC patients with stage T1a.</p>","PeriodicalId":23270,"journal":{"name":"Translational andrology and urology","volume":"14 3","pages":"669-677"},"PeriodicalIF":1.9,"publicationDate":"2025-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11986472/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144046950","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Personalized prediction for recurrence of cystitis glandularis: insights from SHAP and machine learning models.","authors":"Yuyang Yuan, Fuchun Zheng, Jiming Yao, Kun Zhou, Jiaqing Yang, Xiaoqiang Liu, Hao Wan, Luyao Chen, Jieping Hu, Lizhi Zhou, Bin Fu","doi":"10.21037/tau-2024-665","DOIUrl":"https://doi.org/10.21037/tau-2024-665","url":null,"abstract":"<p><strong>Background: </strong>Cystitis glandularis (CG) is a rare urological condition characterized by glandular metaplasia of the bladder mucosa. Recurrence following transurethral resection (TUR) is a significant clinical challenge. Traditional predictive models often fail to capture the complexity of the data, resulting in insufficient accuracy. In contrast, machine learning (ML) has demonstrated substantial potential in medical prediction by identifying and analyzing complex patterns that are undetectable by conventional methods. This study aims to develop and evaluate an interpretable ML model to predict recurrence after TUR for CG, thereby improving clinical decision-making and patient outcomes.</p><p><strong>Methods: </strong>We analyzed predictors of recurrence using the least absolute shrinkage and selection operator (LASSO) and multivariate logistic regression. We developed and tested seven ML-based models: Cox proportional hazards model (CoxPH), LASSO regression, decision tree (rpart), random survival forest (RSF), gradient boosting machine (GBM), support vector machine (SVM), and extreme gradient boosting (XGBoost). Participants were diagnosed with CG by pathology following TUR and treated from 2012 to 2018. Model discrimination was assessed using the receiver operating characteristic (ROC) curve and area under the ROC curve (AUC), while model preference was evaluated through the Brier score (BS). Decision curve analysis (DCA) was used for model comparison. The SHapley Additive exPlanations (SHAP) method was employed for interpretation, providing insights into recurrence prediction and prevention strategies. Finally, user-friendly platform was developed, allowing users to predict CG recurrence by entering feature values into designated text boxes on the webpage.</p><p><strong>Results: </strong>The RSF model demonstrated the best performance in predicting recurrence, as indicated by superior ROC, DCA, and BS metrics. In SHAP, postoperative regular instillation (PRI) contributed the most to model construction.</p><p><strong>Conclusions: </strong>The RSF model effectively predicts CG recurrence, offering a framework for individualized treatment strategies. PRI was identified as the most significant risk factor influencing recurrence.</p>","PeriodicalId":23270,"journal":{"name":"Translational andrology and urology","volume":"14 3","pages":"808-819"},"PeriodicalIF":1.9,"publicationDate":"2025-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11986474/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144053025","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prevalence and determinants of erectile dysfunction among male type 2 diabetes mellitus patients with chronic kidney disease: a cross-sectional study.","authors":"Velkanthan Muniandy, Ying Ying Ng, Lili Husniati Yaacob, Imran Ahmad, Nani Draman, Rosediani Muhamad, Azidah Abdul Kadir, Nurul Huda Abdullah","doi":"10.21037/tau-2024-751","DOIUrl":"https://doi.org/10.21037/tau-2024-751","url":null,"abstract":"<p><strong>Background: </strong>Erectile dysfunction (ED) is a common complication among patients with diabetes mellitus (DM) and chronic kidney disease (CKD). However, limited research has focused on the association between ED and CKD and, highlights a gap in addressing this issue. This study aimed to determine the prevalence of ED and identify the associated factors in patients with DM and CKD.</p><p><strong>Methods: </strong>This cross-sectional study recruited 280 male patients, aged 18 years old and above, who had DM and CKD. Those with underlying psychiatry disorders, inability to understand Bahasa Malaysia, and on renal replacement therapy were excluded. The questionnaire contained demographic and clinical information and the Malay Version of the Hospital Anxiety and Depression Scale (HADS). Their sexual function was evaluated using the Malay Version of International Index of Erectile Function-5 (IIEF-5). The data was analyzed with simple and multiple logistic regressions.</p><p><strong>Results: </strong>The prevalence of ED among DM patients with CKD was 95.0% (n=228). Metformin usage [adjusted odds ratio (adj. OR) =6.64; 95% confidence interval (CI): 1.54, 28.53; P=0.01], elevated urea levels (adj. OR =1.57; 95% CI: 1.10, 2.23; P=0.01), increased glycosylated hemoglobin (HbA1c) (adj. OR =1.75; 95% CI: 1.09, 2.82; P=0.02) and high educational attainment (adj. OR =0.21; 95% CI: 0.05, 0.88; P=0.03) were associated with ED among DM patients with CKD.</p><p><strong>Conclusions: </strong>The prevalence of ED among patients with DM and CKD is high. Thus, clinicians should explore this matter during consultation to ensure early detection and appropriate management can be carried out.</p>","PeriodicalId":23270,"journal":{"name":"Translational andrology and urology","volume":"14 3","pages":"578-588"},"PeriodicalIF":1.9,"publicationDate":"2025-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11986466/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144027885","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exploring the role of glycolysis in the pathogenesis of erectile dysfunction in diabetes.","authors":"Wenjia Deng, Honggang Cao, Taotao Sun, Penghui Yuan","doi":"10.21037/tau-2025-6","DOIUrl":"https://doi.org/10.21037/tau-2025-6","url":null,"abstract":"<p><strong>Background: </strong>Diabetes mellitus-related erectile dysfunction (DMED) is characterized by complicated pathogenesis and unsatisfactory therapeutic remedies. Glycolysis plays an essential role in diabetic complications and whether it is involved in the process of DMED has not been expounded. The aim of this study was to investigate the genetic profiling of glycolysis and explore potential mechanisms for DMED.</p><p><strong>Methods: </strong>Glycolysis-related genes (GRGs) and gene expression matrix of DMED were obtained from the molecular signatures database and gene expression omnibus dataset. Differentially expressed analysis and support vector machine-recursive feature elimination (SVM-RFE) method were both used to obtain hub GRGs. Interactive network and functional enrichment analyses were performed to clarify the associated biological roles of these genes. The expression profile of hub GRGs was validated in cavernous endothelial cells, animals, and clinical patients. The subpopulation distribution of hub GRGs was further identified. In addition, a miRNA-GRGs network was constructed and expression patterns as well as molecular functions of relevant miRNAs were explored and validated. In addition, the relationship between hypoxia and DMED was also uncovered.</p><p><strong>Results: </strong>Based on the combined analysis, 48 differentially expressed GRGs were obtained. Gene Ontology and Kyoto Encyclopedia of Genes and Genomes enrichment analyses revealed that these genes were significantly enriched in carbon metabolism and oxidoreductase activities. Then hub GRGs including down-regulated as well as up-regulated genes in DMED were identified ultimately. Among them, <i>ALDOC</i>, <i>ANGPTL4</i>, and <i>CITED2</i> were well-validated. In addition, 334 glycolysis-related miRNAs were verified and they were involved in endoplasmic reticulum membrane activity, smooth muscle cell differentiation and angiogenesis. After validation of miRNA signature in DMED patients, miR-222-5p, let-7e-5p, miR-184, and miR-122-3p were identified as the promising glycolysis-related miRNA biomarkers in DMED.</p><p><strong>Conclusions: </strong>We clarified the expression signature of GRGs in DMED based on multi-omics analysis for the first time. It will be significantly important to reveal pathological mechanisms and promising treatments in DMED.</p>","PeriodicalId":23270,"journal":{"name":"Translational andrology and urology","volume":"14 3","pages":"791-807"},"PeriodicalIF":1.9,"publicationDate":"2025-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11986553/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143995584","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}