Translational andrology and urology最新文献

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Recurrence of vesico-ureteral reflux in children: is still the endoscopic injection the best option? 儿童膀胱输尿管反流复发:内窥镜注射仍是最佳选择吗?
IF 1.9 3区 医学
Translational andrology and urology Pub Date : 2024-08-31 Epub Date: 2024-08-26 DOI: 10.21037/tau-24-76
Francesca Nascimben, Isabelle Talon, Consuelo Maldonado, Rossella Angotti, Francesco Molinaro, Raphael Moog, Francois Becmeur
{"title":"Recurrence of vesico-ureteral reflux in children: is still the endoscopic injection the best option?","authors":"Francesca Nascimben, Isabelle Talon, Consuelo Maldonado, Rossella Angotti, Francesco Molinaro, Raphael Moog, Francois Becmeur","doi":"10.21037/tau-24-76","DOIUrl":"https://doi.org/10.21037/tau-24-76","url":null,"abstract":"<p><strong>Background: </strong>Endoscopic injection (EI) is a safe treatment for vesico-ureteral reflux (VUR) in children, but recurrences are not insignificant. This study aims to show if multiple EI is still the best first line management even if in case of recurrences.</p><p><strong>Methods: </strong>All patients affected by primary VUR, treated with at least one EI and with at least 5 years follow up were included. All general data were analyzed. Recurrence rate after one, two and three EIs were calculated.</p><p><strong>Results: </strong>One hundred and sixty-one patients (total number =210) were healed after 1 injection, 28 after 2 and 4 after 3 with a global success rate of 91.90%. Recurrence rate is higher in patients older than 3 years old and with IV and V reflux grade. Even if 67.7% of recurrent VUR after one injection was symptomatic, diagnosis of recurrences after multiple EI was mainly radiological. Only 8% of the patients underwent EI need an anti-reflux surgery.</p><p><strong>Conclusions: </strong>Thanks to its low costs and the acceptable recurrence rate, Deflux EI should be proposed as the first therapeutic approach for children affected by VUR, especially in those with low and moderate grades of VUR. Multiple injections could be contraindicated only in older children thank 1 year with high-grade VUR (IV symptomatic and V grade).</p>","PeriodicalId":23270,"journal":{"name":"Translational andrology and urology","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11399022/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142296256","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}
引用次数: 0
Urologist's role on smoking cessation counseling in patients presenting with asymptomatic hematuria: single academic institution experience. 泌尿科医生在无症状血尿患者戒烟咨询中的作用:单个学术机构的经验。
IF 1.9 3区 医学
Translational andrology and urology Pub Date : 2024-08-31 Epub Date: 2024-08-26 DOI: 10.21037/tau-23-592
Fumihiko Nakamura, Lauren Tranthem, Thomas Barefoot, Sarah Johnson, Michael Goedde, Kellen Choi
{"title":"Urologist's role on smoking cessation counseling in patients presenting with asymptomatic hematuria: single academic institution experience.","authors":"Fumihiko Nakamura, Lauren Tranthem, Thomas Barefoot, Sarah Johnson, Michael Goedde, Kellen Choi","doi":"10.21037/tau-23-592","DOIUrl":"https://doi.org/10.21037/tau-23-592","url":null,"abstract":"<p><strong>Background: </strong>Bladder cancer is known to be strongly associated with smoking tobacco products. Urologists thus have an imperative role in providing smoking cessation counseling to patients to prevent the development of bladder cancer, recurrence, and other morbidities associated with smoking. Asymptomatic hematuria is often a presenting clinical symptom that warrants further investigation. This study aims to determine if smokers who have an episode of asymptomatic hematuria are more likely to quit smoking if urologists counsel them on formal smoking cessation.</p><p><strong>Methods: </strong>We completed a retrospective chart review of patients who presented for asymptomatic hematuria at our institution between January 2017 and March 2020. A total of 435 patients were identified, 134 of which were active smokers at the presentation time. We recorded smoking status at initial presentation, documentation of smoking cessation counseling, and smoking status at one year follow-up. Fischer's exact test was used for analysis. Statistical significance was set by convention at P<0.05.</p><p><strong>Results: </strong>The percentage of patients presenting with an episode of asymptomatic hematuria that quit or cut back at one year follow-up was 24.2% [95% confidence interval (CI): 13.8%, 34.7%]. In assessing the effect of formal smoking cessation counseling, 33.3% of patients with documented smoking cessation counseling quit or cut back at one year, compared to 22.8% of patients with no documented counseling. However, these findings were not statistically significant (P=0.68). Of note, smoking cessation counseling was recorded in 19 active smokers (14.2%), and 68 active smokers (50.7%) did not receive follow-up at one year.</p><p><strong>Conclusions: </strong>Smoking cessation remains a challenging endeavor for both patients and urologists. Formal counseling did not significantly contribute to quitting rates among patients, and rates of documented counseling from providers were unsubstantial. Urologists should use hematuria work-up visits as an opportunity to counsel patients on smoking cessation.</p>","PeriodicalId":23270,"journal":{"name":"Translational andrology and urology","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11399034/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142296315","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}
引用次数: 0
A platelet-related signature for predicting the prognosis and immunotherapy benefit in bladder cancer based on machine learning combinations. 基于机器学习组合的用于预测膀胱癌预后和免疫疗法疗效的血小板相关特征。
IF 1.9 3区 医学
Translational andrology and urology Pub Date : 2024-08-31 Epub Date: 2024-08-26 DOI: 10.21037/tau-24-80
Cheng Chen, Jun Zhang, Xiaoshuang Liu, Qianfeng Zhuang, Hao Lu, Jianquan Hou
{"title":"A platelet-related signature for predicting the prognosis and immunotherapy benefit in bladder cancer based on machine learning combinations.","authors":"Cheng Chen, Jun Zhang, Xiaoshuang Liu, Qianfeng Zhuang, Hao Lu, Jianquan Hou","doi":"10.21037/tau-24-80","DOIUrl":"https://doi.org/10.21037/tau-24-80","url":null,"abstract":"<p><strong>Background: </strong>Bladder cancer carries a large societal burden, with over 570,000 newly diagnosed cases and 210,000 deaths globally each year. Platelets play vital functions in tumor progression and therapy benefits. We aimed to construct a platelet-related signature (PRS) for the clinical outcome of bladder cancer cases.</p><p><strong>Methods: </strong>Ten machine learning techniques were used in the integrative operations to build PRS using the datasets from The Cancer Genome Atlas (TCGA), gene series expression (GSE)13507, GSE31684, GSE32894 and GSE48276. A number of immunotherapy datasets and prediction scores, including GSE91061, GSE78220, and IMvigor210, were utilized to assess how well the PRS predicted the benefit of immunotherapy. Vitro experiment was performed to verify the role of α1C-tubulin (TUBA1C) in bladder cancer.</p><p><strong>Results: </strong>Enet (alpha =0.4) algorithm-based PRS had the highest average C-index of 0.73 and it was suggested as the optimal PRS. PRS acted as an independent risk factor for bladder cancer and patients with high PRS score portended a worse overall survival rate, with the area under the curve of 1-, 3- and 5-year operating characteristic curve being 0.754, 0.779 and 0.806 in TCGA dataset. A higher level of immune-activated cells, cytolytic function and T cell co-stimulation was found in the low PRS score group. Low PRS score demonstrated a higher tumor mutation burden score and programmed cell death protein 1 & cytotoxic T-lymphocyte associated protein 4 immunophenoscore, lower tumor immune dysfunction and exclusion score, intratumor heterogeneity score and immune escape score in bladder cancer, suggesting the PRS as an indicator for predicting immunotherapy benefits. Vitro experiment showed that TUBA1C was upregulated in bladder cancer and knockdown of TUBA1C obviously suppressed tumor cell proliferation.</p><p><strong>Conclusions: </strong>The present study developed an ideal PRS for bladder cancer, which may be used as a predictor of prognosis, a risk classification system, and a therapy guide.</p>","PeriodicalId":23270,"journal":{"name":"Translational andrology and urology","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11399026/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142296202","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}
引用次数: 0
Comprehensive analysis of GINS subunit expression, prognostic value, and immune infiltration in clear cell renal cell carcinoma. 全面分析透明细胞肾细胞癌中 GINS 亚基的表达、预后价值和免疫浸润。
IF 1.9 3区 医学
Translational andrology and urology Pub Date : 2024-08-31 Epub Date: 2024-08-26 DOI: 10.21037/tau-24-95
Yuxiang Zhang, Qian Sun, Wei Meng, Lingling Xie, Ningning Li, Jiayi Zhang, Tong Zhang, Yangbo Guan, Limin Ma
{"title":"Comprehensive analysis of <i>GINS</i> subunit expression, prognostic value, and immune infiltration in clear cell renal cell carcinoma.","authors":"Yuxiang Zhang, Qian Sun, Wei Meng, Lingling Xie, Ningning Li, Jiayi Zhang, Tong Zhang, Yangbo Guan, Limin Ma","doi":"10.21037/tau-24-95","DOIUrl":"https://doi.org/10.21037/tau-24-95","url":null,"abstract":"<p><strong>Background: </strong>In recent decades, there has been increasing evidence that Go-Ichi-Nii-San (<i>GINS</i>) subunits play an important role in the development and progression of various tumors. However, little research has been conducted on the role of <i>GINS</i> subunits in clear cell renal cell carcinoma (ccRCC). This study sought to explore the differential expression, prognosis, and immunological significance of <i>GINS</i> subunits in ccRCC.</p><p><strong>Methods: </strong>We used various analysis packages of R (version 3.6.3), the University of ALabama at Birmingham CANcer (UALCAN) data analysis portal, the Cancer Cell Line Encyclopedia (CCLE), the cBio Cancer Genomics Portal (cBioPortal), and the Tumor Immune Estimation Resource (TIMER) to study the gene expression, promoter methylation level, gene mutations, prognostic and diagnostic value, immune infiltration, pathway enrichment, and other aspects of the <i>GINS</i> subunits. Next, the genes related to the <i>GINS</i> subunits were analyzed using the STRING and GeneMANIA platforms, and the correlation between GINS subunits and the functions involved were investigated.</p><p><strong>Results: </strong>The expression level of <i>GINS1/2/3/4</i> was significantly higher in ccRCC tumor tissues than normal tissues, and was significantly related to tumor grade and stage. The expression of <i>GINS1/2/4</i> may be related to the methylation degree of the promoter region. The prognostic and diagnostic analyses showed that the increased expression of <i>GINS1</i> was associated with various poor prognoses and had diagnostic value. The <i>GINS</i> subunit mutation also significantly affected the clinical prognosis of ccRCC patients. Finally, the correlation analysis of the immune infiltration level, co-expression, and enrichment of related genes indicated that <i>GINS</i> subunit expression was associated with different levels of ccRCC immune infiltration.</p><p><strong>Conclusions: </strong>The analysis results showed that the differential expression of <i>GINS</i> subunits in ccRCC, which had prognostic and diagnostic value, was correlated with clinicopathological stage, immune infiltration, and other related aspects. <i>GINS1</i> may serve as a new potential prognostic biomarker for ccRCC patients and be used to guide treatment.</p>","PeriodicalId":23270,"journal":{"name":"Translational andrology and urology","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11399050/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142296222","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}
引用次数: 0
Dietary intakes of vitamin B6, folate, vitamin B12 and erectile dysfunction: a national population-based study. 膳食中维生素 B6、叶酸、维生素 B12 的摄入量与勃起功能障碍:一项基于全国人口的研究。
IF 1.9 3区 医学
Translational andrology and urology Pub Date : 2024-08-31 Epub Date: 2024-08-26 DOI: 10.21037/tau-24-161
Wei Wang, Qiuping Luo, Liyuan Xiang, Yang Xiong, Feng Qin, Jiuhong Yuan
{"title":"Dietary intakes of vitamin B<sub>6</sub>, folate, vitamin B<sub>12</sub> and erectile dysfunction: a national population-based study.","authors":"Wei Wang, Qiuping Luo, Liyuan Xiang, Yang Xiong, Feng Qin, Jiuhong Yuan","doi":"10.21037/tau-24-161","DOIUrl":"https://doi.org/10.21037/tau-24-161","url":null,"abstract":"<p><strong>Background: </strong>While deficiencies in vitamin B<sub>6</sub>, folate, and vitamin B<sub>12</sub> are linked to various human diseases, including anemia, depression, peripheral neuropathy, and cardiovascular disease (CVD), literature regarding the association between vitamin B<sub>6</sub>, folate, and vitamin B<sub>12</sub> and erectile dysfunction (ED) is scarce. We aimed to determine the dietary intake of vitamin B<sub>6</sub>, folate, and vitamin B<sub>12</sub> and ED in the United States population.</p><p><strong>Methods: </strong>We extracted data from the 2001-2004 cycles of the National Health and Nutrition Examination Survey (NHANES). Dietary intakes of B vitamins were collected based on one 24-hour dietary recall. The association between dietary intake of vitamin B<sub>6</sub>, folate, vitamin B<sub>12</sub> and ED was examined using multivariate logistic regression models.</p><p><strong>Results: </strong>A total of 3,875 participants were included for analysis, with 1,201 reporting ED and 2,894 not experiencing ED. The multivariable odds ratios (ORs) for the highest <i>vs.</i> lowest quartiles of vitamin B<sub>6</sub> was 0.77 [95% confidence interval (CI): 0.60-0.99; P for trend =0.03] for the prevalence of ED. Subgroup analyses demonstrated a significant inverse association between dietary intake of vitamin B<sub>6</sub>, folate, vitamin B<sub>12</sub> and the prevalence of ED among men aged ≤60 years, individuals of Mexican American and non-Hispanic White ethnicity, and those without a history of CVD, diabetes, hypertension, and high cholesterol.</p><p><strong>Conclusions: </strong>The consumption of dietary vitamin B<sub>6</sub>, folate, and vitamin B<sub>12</sub> was significantly linked to decreased risks of ED among younger healthier men, suggesting a potential protective role of these nutrients against ED in United States adults.</p>","PeriodicalId":23270,"journal":{"name":"Translational andrology and urology","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11399063/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142296224","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}
引用次数: 0
Are primary tumors suitable for biomarker-guided treatment of metastatic urothelial cancer? 原发肿瘤是否适合在生物标记物指导下治疗转移性尿路癌?
IF 1.9 3区 医学
Translational andrology and urology Pub Date : 2024-08-31 Epub Date: 2024-08-26 DOI: 10.21037/tau-24-112
Mathijs P Scholtes, Geert J L H van Leenders, Debbie G J Robbrecht, Joost L Boormans, Tahlita C M Zuiverloon
{"title":"Are primary tumors suitable for biomarker-guided treatment of metastatic urothelial cancer?","authors":"Mathijs P Scholtes, Geert J L H van Leenders, Debbie G J Robbrecht, Joost L Boormans, Tahlita C M Zuiverloon","doi":"10.21037/tau-24-112","DOIUrl":"https://doi.org/10.21037/tau-24-112","url":null,"abstract":"","PeriodicalId":23270,"journal":{"name":"Translational andrology and urology","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11399036/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142296206","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}
引用次数: 0
Construction and validation of a prediction model for inguinal lymph node metastasis of penile malignancy. 阴茎恶性肿瘤腹股沟淋巴结转移预测模型的构建与验证
IF 1.9 3区 医学
Translational andrology and urology Pub Date : 2024-08-31 Epub Date: 2024-08-26 DOI: 10.21037/tau-24-145
Kun Zhang, Longguo Dai, Huijian Wang, Shiyi Xu, Xianli Cheng, Yang Wang, Haiyang Jiang, Chongjian Zhang, Bingyu Zhu, Yuanlong Shi, Yu Bai
{"title":"Construction and validation of a prediction model for inguinal lymph node metastasis of penile malignancy.","authors":"Kun Zhang, Longguo Dai, Huijian Wang, Shiyi Xu, Xianli Cheng, Yang Wang, Haiyang Jiang, Chongjian Zhang, Bingyu Zhu, Yuanlong Shi, Yu Bai","doi":"10.21037/tau-24-145","DOIUrl":"https://doi.org/10.21037/tau-24-145","url":null,"abstract":"<p><strong>Background: </strong>Penile squamous cell carcinoma is a relatively rare malignancy among male malignancies, there are more than 30,000 new cases and more than 10,000 deaths of penile cancer annually. In patients with penile malignancy, inguinal lymph node metastasis (ILNM) significantly reduces patient survival. Thus, we identified the risk factors for ILNM in penile malignancies, aiming to develop a precise prediction model.</p><p><strong>Methods: </strong>We retrospectively analyzed 112 male patients with penile cancer. All subjects underwent penile surgery and inguinal lymphadenectomy at the same time, and postoperative pathology confirmed ILNM. Fisher's exact test, <i>t</i>-test, and Wilcoxon rank sum test were used to assess differences in demographic information and clinical features between the two groups, followed by logical least absolute shrinkage and selection operator (LASSO) regression analysis to determine risk factors of ILNM. The prediction model was constructed using nomogram.</p><p><strong>Results: </strong>LASSO regression revealed that age [β=-0.005, odds ratio (OR) =0.995], smoking history (β=-0.006, OR =0.994) and interleukin 2 (IL-2) level (β=-0.0112, OR =0.989) were protective against ILNM. However, lymph node diameter (β=0.3117, OR =1.366), T-stage (β=0.1254, OR =1.134), fibrinogen (β=0.0377, OR =1.038), IL-4 level (β=0.004, OR =1.001), and neutrophil-to-lymphocyte ratio (β=0.0355, OR =1.034) were risk factors for developing ILNM. When assessing the risk of metastasis, it is crucial to balance these factors. The aforementioned characteristics were utilized to establish the predictive model, which demonstrated a good predictive ability with an area under the curve (AUC) value of 0.81. Moreover, internal leave-one-way cross-validation was used to construct a nomogram showing consistency, with an AUC of 0.75.</p><p><strong>Conclusions: </strong>The diagnosis of ILNM in penile malignant tumors can be predicted through clinicopathological features, biochemical tests, and prediction models based on tumor markers.</p>","PeriodicalId":23270,"journal":{"name":"Translational andrology and urology","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11399025/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142296223","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}
引用次数: 0
Optimal choice of first-line treatment for advanced renal cell carcinoma based on the results of extended follow-up data. 基于扩展随访数据结果的晚期肾细胞癌一线治疗的最佳选择。
IF 1.9 3区 医学
Translational andrology and urology Pub Date : 2024-08-31 Epub Date: 2024-08-12 DOI: 10.21037/tau-24-172
Goshi Kitano, Takahiro Kojima
{"title":"Optimal choice of first-line treatment for advanced renal cell carcinoma based on the results of extended follow-up data.","authors":"Goshi Kitano, Takahiro Kojima","doi":"10.21037/tau-24-172","DOIUrl":"https://doi.org/10.21037/tau-24-172","url":null,"abstract":"","PeriodicalId":23270,"journal":{"name":"Translational andrology and urology","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11399020/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142296252","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}
引用次数: 0
Methylenetetrahydrofolate reductase (MTHFR) polymorphisms in andrology-a narrative review. 亚甲基四氢叶酸还原酶(MTHFR)多态性与肾病的关系--综述。
IF 1.9 3区 医学
Translational andrology and urology Pub Date : 2024-08-31 Epub Date: 2024-08-23 DOI: 10.21037/tau-24-153
Zisong Xie, Kaifeng Liu, Shengmin Zhang, Yongzhan Gong, Zihao Wang, Pengjie Lu
{"title":"Methylenetetrahydrofolate reductase (MTHFR) polymorphisms in andrology-a narrative review.","authors":"Zisong Xie, Kaifeng Liu, Shengmin Zhang, Yongzhan Gong, Zihao Wang, Pengjie Lu","doi":"10.21037/tau-24-153","DOIUrl":"https://doi.org/10.21037/tau-24-153","url":null,"abstract":"<p><strong>Background and objective: </strong>Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme involved in folate metabolism and one-carbon metabolism. MTHFR gene polymorphism affects enzyme activity. MTHFR gene polymorphism is closely related to many human diseases, such as cardiocerebrovascular diseases, diabetes, neural tube defects (NTDs), tumors, and so on. In the field of Andrology, MTHFR gene polymorphism may be associated with male infertility and erectile dysfunction (ED), and there is a possibility of treating male infertility and ED by supplementing with folic acid. However, its exact pathophysiologic mechanism is not fully understood. We sought to obtain a robust understanding of the interactions between MTHFR gene polymorphism, oxidative stress, DNA methylation, hyperhomocysteinemia (HHcy), male infertility, and ED.</p><p><strong>Methods: </strong>We performed a non-systematic literature review using the PubMed database to identify articles specifically related to MTHFR, male infertility and ED.</p><p><strong>Key content and findings: </strong>Our literature review on MTHFR gene polymorphism in male infertility patients indicates a significant association between C677T gene polymorphism and male infertility. There is limited literature on the correlation between ED and MTHFR gene polymorphism, and there are two different conclusions, related and unrelated. More clinical data are needed to clarify the conclusion. There is a possibility of using folic acid supplementation to treat male infertility and ED, especially for patients with thymine-thymine (TT) genotype. Future research is necessary to further understand the relationship between MTHFR gene polymorphism and male infertility and ED.</p><p><strong>Conclusions: </strong>Our literature review on MTHFR gene polymorphism in male infertility patients indicates a significant association between C677T gene polymorphism and male infertility. Folic acid supplementation can improve sperm quality. The correlation between MTHFR gene polymorphisms and ED is questionable and needs to be confirmed by more clinical data. MTHFR gene polymorphisms are associated with homocysteine (Hcy) levels, which affects vascular endothelial function and may be related to the development of vascular ED (VED). Folic acid supplementation improves International Index for Erectile Function (IIEF) questionnaire scores in ED patients in whom phosphodiesterase 5 inhibitor (PDE5i) alone is ineffective.</p>","PeriodicalId":23270,"journal":{"name":"Translational andrology and urology","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11399056/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142296238","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}
引用次数: 0
The diagnostic accuracy of urinary neutrophil gelatinase-associated lipocalin in assessing kidney function in severe hydronephrosis. 尿液中性粒细胞明胶酶相关脂联素在评估严重肾积水肾功能方面的诊断准确性。
IF 1.9 3区 医学
Translational andrology and urology Pub Date : 2024-08-31 Epub Date: 2024-08-26 DOI: 10.21037/tau-24-336
Langlang Yang, Longfei Wu, Jinxian Pu, Guglielmo Mantica, Qilin Xi, Feng Li
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