Revista da Associacao Medica Brasileira (1992)最新文献

{"title":"Assessing the impact of exome sequencing on diagnostic yield in a large cohort of Brazilian patients.","authors":"Aline Cristiane Planello, Thereza Loureiro, Dayse Alencar-Cupertino, Diana Bermeo, Joselito Sobreira, Mireille Gomes, Luciana Santos Serrao de Castro, Darine Villela, Cristovam Scapulatempo-Neto, Nara Sobreira","doi":"10.1590/1806-9282.20250086","DOIUrl":"https://doi.org/10.1590/1806-9282.20250086","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to evaluate whether the increased use of exome sequencing as a primary next-generation sequencing test provides a higher diagnostic yield compared to multi-gene panels for various clinical indications within a Brazilian cohort.</p><p><strong>Methods: </strong>We retrospectively analyzed test results from 3,025 patients who underwent single-gene tests, multi-gene panels, and exome sequencing in our laboratory. The results were categorized as positive, inconclusive, or negative, with clinical indications including neurodevelopmental, late-onset neurological, neuromuscular, syndromic, skin/hair, hematological/immunologic, ophthalmologic, inborn errors of metabolism, skeletal, cardiovascular, reproductive planning, cancer, genitourinary, gastrointestinal, and hearing disorders.</p><p><strong>Results: </strong>Of the 3,025 next-generation sequencing-based tests, 420 were single-gene tests, 1,158 were multi-gene panels, and 1,447 were exome sequencing. Although multi-gene panels were initially the most frequently ordered test, exome sequencing currently represents 62% of all next-generation sequencing-based tests performed in our laboratory. Exome sequencing had the highest detection rate (32.7%), but also the highest inconclusive rate. Among the clinical indications, when stratified by exome sequencing, skeletal and hearing disorders had the highest diagnostic yield, corresponding to 55 and 50%, respectively.</p><p><strong>Conclusion: </strong>This study emphasizes the diagnostic usefulness of exome sequencing for complex genetic disorders in postnatal diagnosis. However, the expansion of exome sequencing also presents challenges, including an increased rate of inconclusive results due to variants of uncertain significance. Broader availability of exome sequencing must be accompanied by additional resources to address these challenges effectively.</p>","PeriodicalId":94194,"journal":{"name":"Revista da Associacao Medica Brasileira (1992)","volume":"71 7","pages":"e20250086"},"PeriodicalIF":1.3,"publicationDate":"2025-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12356641/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144984479","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Elevated B-type natriuretic peptide levels in pregnant women with hyperemesis gravidarum: a biomarker of cardiac stress?","authors":"Mustafa Bakırcı, Nagihan Sarı, Ethem Serdar Yalvaç, Ayşe Yeşim Göçmen","doi":"10.1590/1806-9282.20242031","DOIUrl":"10.1590/1806-9282.20242031","url":null,"abstract":"<p><strong>Objective: </strong>The aim of this study was to evaluate serum B-type natriuretic peptide levels in pregnant women with hyperemesis gravidarum and compare them with healthy pregnant women.</p><p><strong>Methods: </strong>In this prospective cross-sectional study, sample size calculation using G*Power determined a minimum of 40 participants per group, totaling 80 participants. The study included 43 pregnant women with hyperemesis gravidarum and 43 healthy pregnant controls. Hyperemesis gravidarum diagnosis was based on clinical and laboratory criteria, including weight loss, ketonuria, and electrolyte imbalance. Exclusion criteria included pre-existing cardiovascular or systemic diseases, multiple pregnancies, and smoking. Serum B-type natriuretic peptide levels and various biochemical parameters were measured using standard laboratory techniques. Statistical analyses were performed using the Statistical Package for the Social Sciences software, with a p-value of <0.05 considered statistically significant.</p><p><strong>Results: </strong>B-type natriuretic peptide levels were significantly higher in the hyperemesis gravidarum group compared to the control group (HG: 9.6±2.5 pg/mL [95%CI 8.9-10.3]; control: 8.1±1.8 pg/mL [95%CI 7.5-8.6]; Cohen's d=0.70, p=0.016). No significant differences were found between the groups in terms of age, body mass index, and other biochemical parameters, including hemoglobin, electrolytes, and inflammatory markers. B-type natriuretic peptide levels were not significantly correlated with gestational week, maternal age, body mass index, or hemoglobin levels.</p><p><strong>Conclusion: </strong>In this study, we found that B-type natriuretic peptide levels are elevated in hyperemesis gravidarum, and we believe that this may be associated with increased cardiac stress. B-type natriuretic peptide may serve as a potential biomarker for monitoring cardiovascular changes in hyperemesis gravidarum. Further research is warranted to validate these findings and explore the role of B-type natriuretic peptide in the clinical management of hyperemesis gravidarum.</p>","PeriodicalId":94194,"journal":{"name":"Revista da Associacao Medica Brasileira (1992)","volume":"71 7","pages":"e20242031"},"PeriodicalIF":1.3,"publicationDate":"2025-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12341419/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144839519","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of obstetric outcomes in adolescent pregnancies according to age groups.","authors":"Hakki Serbetci, Atakan Tanacan, Osman Onur Ozkavak, Murat Haksever, Esra Karatas, Mehmet Utku Basarir, Ozgur Kara, Dilek Sahin","doi":"10.1590/1806-9282.20250010","DOIUrl":"10.1590/1806-9282.20250010","url":null,"abstract":"<p><strong>Introduction: </strong>The aim of the present study was to gain insight into how age may influence the outcomes of adolescent pregnancies and to gain a better understanding of the proportion of immigrants in adolescent pregnancies.</p><p><strong>Methods: </strong>This retrospective study was conducted in a perinatology clinic between 2021 and 2024. The patients were divided into two categories such as adolescents and adults. The adolescent cohort was then divided into two subgroups according to age. Demographic characteristics, pregnancy follow-up, and postnatal outcomes were reported and compared between groups.</p><p><strong>Results: </strong>A total of 123 adolescent pregnancies compared with 123 adult pregnancies. There were 27 patients in the 14-15 age group and 96 patients in the 16-17 age group. The adult group exhibited significantly higher age (p<0.01), gravidity (p<0.01), parity (p<0.01), gestational age at birth (p<0.01), neonatal weight (p<0.01), and both antepartum (p=0.017) and postpartum (p<0.01) hemoglobin values compared to the adolescent group. The decline in hemoglobin levels in the peripartum period was significantly higher in the 14-15 age group (p<0.01). A significant difference was observed between adolescent and adult pregnant groups in terms of early pregnancy follow-up. The proportion of immigrants was much higher in the adolescent group at 49.6% and in the adult group at 4.8% (p<0.01).</p><p><strong>Conclusion: </strong>Adolescent pregnancies represent a significant public health concern. The risks in this regard are amplified with a reduction in the age of the patient. The prevalence of adolescent pregnancies among refugees appears to be a matter of significant concern.</p>","PeriodicalId":94194,"journal":{"name":"Revista da Associacao Medica Brasileira (1992)","volume":"71 7","pages":"e20250010"},"PeriodicalIF":1.3,"publicationDate":"2025-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12341423/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144839521","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The clinical significance of D-dimer concentrations predicting the risk of venous thromboembolism in patients with hyperemesis gravidarum.","authors":"Berrin Göktug Kadıoglu, Ayse Nur Aksoy, Selvihan Tapanoglu Karaca, Konca Altınkaynak, Nurcan Yoruk","doi":"10.1590/1806-9282.20250088","DOIUrl":"10.1590/1806-9282.20250088","url":null,"abstract":"<p><strong>Objective: </strong>The aim of this prospective cross-sectional study was to determine serum D-dimer and fibrinogen concentrations in pregnant women with hyperemesis gravidarum and compare them with those of healthy pregnant women.</p><p><strong>Methods: </strong>The study group consisted of 50 patients diagnosed with hyperemesis gravidarum. The control group consisted of 50 healthy pregnant women. Maternal characteristics such as age, gestational age, body mass index, gravida, and parity were recorded. Following a 12-h fasting period, venous blood samples of 10 cc were collected. The blood samples were centrifuged, and serum was stored at -80°C until assay. Blood count, coagulation profiles, and biochemical analyses were performed, and the results were analyzed using appropriate statistical tests.</p><p><strong>Results: </strong>The data of 45 patients in the hyperemesis gravidarum group and 47 patients in the control group were analyzed. Serum levels of hemoglobin, white blood cell and platelet counts, prothrombin time, activated partial thromboplastin time, fibrinogen, D-dimer, and international normalized ratio were similar between groups (p>0.05). There was a positive association between serum D-dimer levels and serum fibrinogen levels (p=0.039, r=0.215). Also, a positive association was observed between serum D-dimer levels with the degree of ketonuria (p=0.008, r=0.274) and the number of vomitings per day (p=0.02, r=0.346) in hyperemesis gravidarum patients.</p><p><strong>Conclusion: </strong>Serum D-dimer levels were not different in patients with hyperemesis gravidarum versus healthy women during the first trimester of pregnancy. Pregnant women tend to have higher D-dimer concentrations as hyperemesis gravidarum severity increases. Serum D-dimer levels cannot be used for the evaluation of potential venous thromboembolism in patients diagnosed with hyperemesis gravidarum.</p>","PeriodicalId":94194,"journal":{"name":"Revista da Associacao Medica Brasileira (1992)","volume":"71 7","pages":"e20250088"},"PeriodicalIF":1.3,"publicationDate":"2025-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12341417/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144839561","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The relationship between anticholinergic drug burden and clinical frailty in urinary incontinence patients.","authors":"Baki Derhem, Mirac Ataman, Ercan Yuvanc","doi":"10.1590/1806-9282.20250075","DOIUrl":"10.1590/1806-9282.20250075","url":null,"abstract":"<p><strong>Objective: </strong>The aim of this study was to investigate the relationship between anticholinergic drug burden and clinical frailty in patients with urinary incontinence.</p><p><strong>Methods: </strong>This prospective cross-sectional study included 197 patients who were aged ≥60 years old and admitted to Family Medicine and Urology Departments of Kırıkkale Faculty of Medicine between May 2024 and August 2024. Anticholinergic burden was calculated using anticholinergic burden calculator, frailty was assessed using the clinical frailty scale, and these patients were assigned a frailty score ranging from 1 (very fit) to 9 (terminally ill).</p><p><strong>Results: </strong>The mean age of the 197 participants in our study was 67.71±6.85 and 92 (46.7%) were female. The mean anticholinergic burden score was 2.43±1.77 and clinical frailty scale score was 4.75±1.05. There was a statistically significant difference between age groups, gender, marital status, educational status, anticholinergic burden status, and clinical frailty scale score (p<0.001, p=0.001, p=0.033, p<0.001, and p<0.001, respectively). There was also a statistically significant distance between age groups, gender, marital status, educational status, and anticholinergic aurden score (p=0.001, p=0.023, p=0.013, p=0.042, respectively). A strong, positive, and significant correlation was found between anticholinergic burden and frailty (r=0.728, p<0.01).</p><p><strong>Conclusion: </strong>The findings of this study highlighted that it is useful to evaluate the anticholinergic burden and reconsider treatment options when prescribing to elderly patients with urinary incontinence.</p>","PeriodicalId":94194,"journal":{"name":"Revista da Associacao Medica Brasileira (1992)","volume":"71 7","pages":"e20250075"},"PeriodicalIF":1.3,"publicationDate":"2025-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12341426/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144839564","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Compounded hormonal pellets: a critical review of current evidence and risks.","authors":"Maria Celeste Osório Wender, Marcelo Luis Steiner, César Eduardo Fernandes, Lia Cruz Vaz da Costa Damásio, José Maria Soares Júnior, Lúcia Helena Simões da Costa Paiva, Ilza Maria Urbano Monteiro, Ricardo de Almeida Quintairos, Clayton Luiz Dornelles Macedo, Agnaldo Lopes da Silva Filho","doi":"10.1590/1806-9282.20250121","DOIUrl":"10.1590/1806-9282.20250121","url":null,"abstract":"","PeriodicalId":94194,"journal":{"name":"Revista da Associacao Medica Brasileira (1992)","volume":"71 7","pages":"e20250121"},"PeriodicalIF":1.3,"publicationDate":"2025-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12341420/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144839517","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Role of atherogenic indices in predicting infertility in polycystic ovary syndrome.","authors":"Beyzanur Kahyaoğlu, Esra Keles, İsmail Bağlar, Mehmet Güçlü, Buket Yiğit Çivi, Sahra Sultan Kara, Gizem Elif Dizdaroğulları","doi":"10.1590/1806-9282.20241460","DOIUrl":"10.1590/1806-9282.20241460","url":null,"abstract":"<p><strong>Objective: </strong>The aim of the study was to assess the predictive value of the triglyceride-glucose index and atherogenic indices for infertility in women with polycystic ovary syndrome.</p><p><strong>Methods: </strong>This prospective, single-center, non-randomized observational study was conducted on 279 women diagnosed with polycystic ovary syndrome from May to December 2023. Women with polycystic ovary syndrome were grouped into two groups: those with infertility and those without infertility. Demographic, hormonal, and clinical parameters were studied. The statistical study employed IBM SPSS (Statistical Package for the Social Sciences) Statistics 22 to analyze the distribution of variables, assessing normality and comparing categorical and continuous data. Descriptive statistics were computed, with categorical and continuous data compared using appropriate tests (chi-square, Student's t-test, and Mann-Whitney U). Multivariable logistic regression identified independent predictors of infertility, with a significance level set at 0.05.</p><p><strong>Results: </strong>Infertile women with polycystic ovary syndrome had significantly higher plasma levels of dehydroepiandrosterone sulfate (p=0.001), testosterone (p=0.005), insulin (p=0.041), Homeostasis Model Assessment of Insulin Resistance (p=0.029), prolactin (p=0.018), triglycerides (p<0.001), triglyceride/high-density lipoprotein (p=0.001), atherogenic index of plasma (p=0.011), triglyceride-glucose index (p=0.001), and lipoprotein combine index (p=0.007) compared to the fertile women with polycystic ovary syndrome. Correlation analysis showed that the triglyceride-glucose index correlated with the Homeostasis Model Assessment of Insulin Resistance (r=0.402, p<0.001) and total testosterone (r=0.191, p=0.001). Multivariable analysis identified age (OR 1.189, 95%CI 1.122-1.263, p<0.001), prolactin (OR 1.040, 95%CI 1.004-1.077, p=0.029), and triglyceride-glucose index (OR 2.473, 95%CI 1.404-4.177, p<0.001) as independent predictors of infertility.</p><p><strong>Conclusion: </strong>This study suggests a more atherogenic lipid profile in infertile women with polycystic ovary syndrome, suggesting a significant link between dyslipidemia and infertility. The triglyceride-glucose index proves to be a reliable, non-invasive marker of insulin resistance and may aid in identifying women at higher risk for infertility, facilitating earlier, targeted interventions.</p>","PeriodicalId":94194,"journal":{"name":"Revista da Associacao Medica Brasileira (1992)","volume":"71 7","pages":"e20241460"},"PeriodicalIF":1.3,"publicationDate":"2025-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12341413/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144839560","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Relationship between scoring systems and inflammatory parameters with mortality in pneumonia: Acute Phase Reactant Index is new index.","authors":"Emine Sarcan, Ahmet Burak Erdem, Sinan Özdemir, Gamze Akkoyun, Melike Ayas, Burak Katipoğlu","doi":"10.1590/1806-9282.20250005","DOIUrl":"10.1590/1806-9282.20250005","url":null,"abstract":"<p><strong>Objective: </strong>The aim of this study is to investigate the relationship between risk scores and immune-inflammatory indices with prognosis and mortality in community-acquired pneumonia. Additionally, we aim to examine the association between mortality and the Acute Phase Reactant Index, which we developed using C-reactive protein, procalcitonin, and albumin levels.</p><p><strong>Methods: </strong>This retrospective study was conducted with 417 patients diagnosed with community-acquired pneumonia who presented to the emergency department of a tertiary care hospital between 2022 and 2023. The patients' demographic data, imaging findings, blood parameters, site of care, and 30-day mortality status were recorded. Risk scores, immune-inflammatory indices, and the Acute Phase Reactant Index were calculated. The risk scores and indices were compared with treatment outcomes and 30-day mortality results.</p><p><strong>Results: </strong>In the receiver operating characteristic analysis, Acute Phase Reactant Index was found to be as effective as other risk scores in predicting mortality. Among them, Acute Phase Reactant Index had the highest area under the curve value. Additionally, in patients transferred from the ward to the ıntensive care unit, when the Acute Phase Reactant Index score cut-off value was set at 1.32, it accurately predicted mortality in 9 out of 13 patients (69.2%).</p><p><strong>Conclusion: </strong>It was determined that Acute Phase Reactant Index is a better predictor of mortality than all other scores and inflammatory indices in community-acquired pneumonia. This suggests that the Acute Phase Reactant Index may be used as a prognostic factor in high-mortality lung diseases such as cancer.</p>","PeriodicalId":94194,"journal":{"name":"Revista da Associacao Medica Brasileira (1992)","volume":"71 7","pages":"e20250005"},"PeriodicalIF":1.3,"publicationDate":"2025-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12341414/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144839558","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The effect of reflexology on blood pressure and heart rate in cardiovascular patients: a meta-analysis study.","authors":"Gülşah Çamcı, Betül Bayrak","doi":"10.1590/1806-9282.20250059","DOIUrl":"10.1590/1806-9282.20250059","url":null,"abstract":"<p><strong>Objective: </strong>The aim of the study was to conduct a meta-analysis of studies on the effect of reflexology on blood pressure and heart rate in patients with cardiovascular disease.</p><p><strong>Method: </strong>The study collected data from PubMed, ScienceDirect, MEDLINE, Web of Science, Google Scholar, and Cochrane Library databases. The study had randomized-controlled, non-randomized-controlled, and quasi-experimental designs. Patients aged >18 years with coronary artery disease, coronary angiography, percutaneous coronary intervention, open-heart surgery, or coronary bypass were included. All analyses were performed using Comprehensive Meta-Analysis.</p><p><strong>Results: </strong>This study included 1,041 patients aged 18-75 years from 12 studies. According to the random-effects model, reflexology significantly reduced systolic blood pressure (95%CI, Hedges' g=-0.41, Z=-2.27, p=0.02) and diastolic blood pressure (95%CI, Hedges' g=-0.38, Z=-2.69, p=0.01). However, reflexology did not affect the heart rate (95%CI, Hedges' g=0.16, Z=-1.54, p=0.12).</p><p><strong>Conclusion: </strong>The results suggest that reflexology has a positive effect on the systolic and diastolic blood pressures of cardiovascular patients, but no significant effect on the heart rate was observed.</p>","PeriodicalId":94194,"journal":{"name":"Revista da Associacao Medica Brasileira (1992)","volume":"71 7","pages":"e20250059"},"PeriodicalIF":1.3,"publicationDate":"2025-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12341402/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144839563","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The relationship between the urokinase-type plasminogen activator gene Pro141Leu polymorphism and patients with prostate cancer.","authors":"Cemil Gülüm, Pelin Eroğlu, Rojda Tanrıverdi, Murat Bozlu","doi":"10.1590/1806-9282.20250097","DOIUrl":"10.1590/1806-9282.20250097","url":null,"abstract":"<p><strong>Objective: </strong>Although many genes associated with prostate cancer have been identified, there are still many cases of prostate cancer whose genetics have not been identified. The urokinase-type plasminogen activator gene is thought to play a key role in cancer invasion and metastasis. The Pro141Leu polymorphism may be involved in the development of prostate cancer, although genetic evidence is lacking.</p><p><strong>Methods: </strong>We used the real time polymerase chain reaction based TaqMan assay to investigate whether the urokinase-type plasminogen activator gene Pro141Leu polymorphism is associated with prostate cancer patients and healthy controls. urokinase-type plasminogen activator, urokinase-type plasminogen activator receptor, and prostate-specific antigen antigens were assayed by the enzyme-linked immunosorbent assay method.</p><p><strong>Results: </strong>We found no significant differences between the cancer and control populations in terms of genotype distribution (CC, CT, and TT). Furthermore, we found no association between the urokinase-type plasminogen activator gene Pro141Leu polymorphism and cancer risk in prostate cancer patients.</p><p><strong>Conclusion: </strong>This is the first study to investigate the association between the rs2227564 polymorphism and prostate cancer. Although the urokinase-type plasminogen activator gene Pro141Leu polymorphism has been reported to be a risk factor for some cancers, our findings suggest that the urokinase-type plasminogen activator gene Pro141Leu polymorphism is not an important genetic risk factor for prostate cancer.</p>","PeriodicalId":94194,"journal":{"name":"Revista da Associacao Medica Brasileira (1992)","volume":"71 7","pages":"e20250097"},"PeriodicalIF":1.3,"publicationDate":"2025-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12341408/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144839565","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}