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BACKGROUND: In recent years, the integration of large language models (LLMs) into healthcare has emerged as a revolutionary approach to enhancing doctor-patient communication, particularly in the management of diseases such as prostate cancer. METHODS: Our paper evaluated the effectiveness of three prominent LLMs-ChatGPT (3.5), Gemini (Pro), and Co-Pilot (the free version)-against the official Romanian Patient's Guide on prostate cancer. Employing a randomized and blinded method, our study engaged eight medical professionals to assess the responses of these models based on accuracy, timeliness, comprehensiveness, and user-friendliness. RESULTS: The primary objective was to explore whether LLMs, when operating in Romanian, offer comparable or superior performance to the Patient's Guide, considering their potential to personalize communication and enhance the informational accessibility for patients. Results indicated that LLMs, particularly ChatGPT, generally provided more accurate and user-friendly information compared to the Guide. CONCLUSIONS: The findings suggest a significant potential for LLMs to enhance healthcare communication by providing accurate and accessible information. However, variability in performance across different models underscores the need for tailored implementation strategies. We highlight the importance of integrating LLMs with a nuanced understanding of their capabilities and limitations to optimize their use in clinical settings.
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This study assesses the effectiveness of chatbots powered by Large Language Models (LLMs)-ChatGPT 3.5, CoPilot, and Gemini-in delivering prostate cancer information, compared to the official Patient's Guide. Using 25 expert-validated questions, we conducted a comparative analysis to evaluate accuracy, timeliness, completeness, and understandability through a Likert scale. Statistical analyses were used to quantify the performance of each model. Results indicate that ChatGPT 3.5 consistently outperformed the other models, establishing itself as a robust and reliable source of information. CoPilot also performed effectively, albeit slightly less so than ChatGPT 3.5. Despite the strengths of the Patient's Guide, the advanced capabilities of LLMs like ChatGPT significantly enhance educational tools in healthcare. The findings underscore the need for ongoing innovation and improvement in AI applications within health sectors, especially considering the ethical implications underscored by the forthcoming EU AI Act. Future research should focus on investigating potential biases in AI-generated responses and their impact on patient outcomes.
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Introduction: The application of double-J ureteral stents in urology is widespread, but their use is often accompanied by complications and bothersome symptoms, affecting patients' quality of life (QoL). While various medications have been tested for alleviating the symptoms associated with double-J stents, consensus on their effectiveness remains elusive. This study aims to investigate the effectiveness of tamsulosin, solifenacin, mirabegron, desloratadine, and combination therapy using a Romanian-adapted version of the Ureteral Stent Symptom Questionnaire (USSQ). Materials and Methods: A prospective, observational, randomised trial was conducted at the Urology and Renal Transplant Clinic of Dr. "C.I. Parhon" Clinical Hospital in Iasi between 1 January 2022 and 1 August 2023. Three hundred twenty seven patients who underwent their first double-J stent insertion were evaluated with the Romanian-adapted USSQ at baseline and 30 days post-insertion. Patients were randomly divided into six groups based on the prescribed medications: control, tamsulosin, mirabegron, solifenacin, desloratadine, and combination therapy. Results: The data suggest a significant reduction in symptoms in patients who received medication compared with the control group. Furthermore, the combined medication of solifenacin 10 mg and tamsulosin 0.4 mg was particularly effective in reducing pain with statistical significance compared to the control group (p = 0.001). The highest mean scores for urinary symptom severity were observed in the control group (12.37 ± 6.82), and the lowest was in the mirabegron group (9.94 ± 5.82). The individuals who received a daily dose of 50 mg of mirabegron saw the most notable influence on their job. Conclusions: While no single medication emerged as a "miracle drug" for managing symptoms related to double-J stent insertion, the combination therapy of solifenacin and tamsulosin is the most promising option for improving symptoms related to double-J stent insertion and QoL. Additional extensive research is required to validate these initial results.
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PURPOSE: Open ureteral reimplantation is considered the standard surgical approach to treat distal ureteral strictures or injuries. These procedures are increasingly performed in a minimally invasive and robotic-assisted manner. Notably, no series comparing perioperative outcomes and safety of the open vs. robotic approach are available so far. METHODS: In this retrospective multi-center study, we compared data from 51 robotic ureteral reimplantations (RUR) with 79 open ureteral reimplantations (OUR). Both cohorts were comparatively assessed using different baseline characteristics and perioperative outcomes. Moreover, a multivariate logistic regression for independent predictors was performed. RESULTS: Surgery time, length of hospital stay and dwell time of bladder catheter were shorter in the robotic cohort, whereas estimated blood loss, postoperative blood transfusion rate and postoperative complications were lower than in the open cohort. In the multivariate linear regression analysis, robotic approach was an independent predictor for a shorter operation time (coefficient - 0.254, 95% confidence interval [CI] - 0.342 to - 0.166; p < 0.001), a lower estimated blood loss (coefficient - 0.390, 95% CI - 0.549 to - 0.231, p < 0.001) and a shorter length of hospital stay (coefficient - 0.455, 95% CI - 0.552 to - 0.358, p < 0.001). Moreover, robotic surgery was an independent predictor for a shorter dwell time of bladder catheter (coefficient - 0.210, 95% CI - 0.278 to - 0.142, p < 0.001). CONCLUSION: RUR represents a safe alternative to OUR, with a shorter operative time, decreased blood loss and length of hospital stay. Prospective research are needed to further define the extent of the advantages of the robotic approach over open surgery.
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Laparoscopia , Procedimentos Cirúrgicos Robóticos , Ureter , Humanos , Laparoscopia/métodos , Estudos Prospectivos , Reimplante/métodos , Estudos Retrospectivos , Procedimentos Cirúrgicos Robóticos/métodos , Resultado do Tratamento , Ureter/cirurgiaRESUMO
The aim of the study and meta-analysis was to evaluate the predictive value of follicle-stimulating hormone (FSH) and inhibin B in sperm retrieval in men with non-obstructive azoospermia NOA. A total of 44 patients with a mean age of 36.1 years (SD=+/- 6.17) was included. We had 19 patients with successful sperm retrieval and 25 with failure. All patients had a normal karyotype. There was no difference between groups regarding patients mean age, prolactin or FSH. Patients with successful sperm retrieval had a significantly higher inhibin B level (134.62(+/-64,35) vs. 72.36(+/-67.78), p=0.006) and, paradoxically a higher body weight (92.38(+/-11.38) vs. 83.76(+/-11.90), p=0.027). The forest plots showed that a higher FSH level was significantly correlated with a negative success rate. Ahigher Inhibin B level was associated with a higher successful sperm retrieval (p=0.00001 respectively, p=0.0002). Surgical sperm retrieval could be, in some cases, the only chance to have a biological offspring.
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Hormônio Foliculoestimulante , Recuperação Espermática , Humanos , Masculino , Adulto , Sêmen , EspermatozoidesRESUMO
BACKGROUND: Telemedicine is the service of delivering medical care from a distance through the means of modern technology. It has many advantages, including improved access, decreased costs for both patients and clinics, more flexibility and availability, as well as more precise and individualized therapies. However, it is equally important to take into consideration all the challenges associated with this innovative way of providing care. This virtual technology has had an exponential growth, especially since the beginning of the COVID-19 pandemic, because it delivers great outcomes and suggests exciting future promises. METHODS: The study involved the collection of responses from an online questionnaire comprising 26 questions that was distributed to healthcare professionals in Romania. RESULTS: The questionnaire was completed by a number of 1017 healthcare professionals. We investigated and analyzed whether telehealth is seen as an important constituent of the healthcare system, if it is perceived as necessary, safe, well-managed by lawmakers, and easy to use, what advantages it has, what common practices specialists already employ and, additionally, the openness toward becoming more digitally educated for the purpose of streamlining the use of telemedicine. CONCLUSIONS: This paper reports on the perception of telemedicine among healthcare professionals in Romania, as constructive feedback represents an essential piece of the puzzle in assuring the smooth transition toward this facet of modern healthcare.
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Acquired benign trachea-oesophageal fistula is a rare benign pathological entity with varying aetiologies that most often occurs post-intubation. This case report presents the case of a female patient, 31 years old, admitted to the emergency room with sepsis syndrome following bilateral aspiration pneumonia caused by a large trachea-oesophageal fistula. The fistula was the result of intra-tracheal migration of an oesophageal stent placed for post lye ingestion stenosis. Esophageal diversion and partial resection with oesophageal patch to repair the tracheal defect, under general anaesthesia with ventilation using rigid bronchoscopy and high frequency jet ventilation (HFJV), followed at a later date by esophageal replacement with colic graft were the procedures performed with a view to curing the patient. In conclusion, complex cases always require a tailored approach. It is important to note that HFJV may be applied for a longer period of time and the oesophagus can be used as patch for the posterior tracheal wall in selected cases. Staged surgery is also an option when the patients' poor health status does not permit major surgery.
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Pancreatic cancer is one of the most lethal malignancies affecting people worldwide. As it is frequently diagnosed in advanced stages of the disease, the 5-year overall survival rate is <10%. Advanced stages are usually characterized by the local invasion of the superior mesenteric axis, celiac axis and portal vein and are considered a sign of unresectable cancer. The association between venous resections and survival outcomes has been widely reported. The effect of arterial invasion remains unclear as only isolated cases have been reported thus far. The present study investigated the preliminary experience in the field of arterial resection for locally advanced pancreatic cancer. Between January 2018 and January 2020 arterial resection was successfully associated with pancreatoduodenectomy in four cases. The mean age at the time of surgery was 48 years, and in all cases the indication of resection was represented by pancreatic head adenocarcinoma. Different types of venous resections were required in all cases. Postoperative reoperation was required in one case, while histopathological studies confirmed microscopic negative resection margins in all but one case. In selected cases, combined pancreatoduodenectomy with venous and arterial resection may be required to increase the chances of radical surgery.
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Esophageal stenoses of childhood have a broad spectrum of underlying causes. Their treatment is usually minimally invasive by endoscopic means, but sometimes surgery is necessary in refractory cases. Techniques employed in the surgical treatment of esophageal strictures include resection of the stenotic esophageal segment or esophageal substitution procedures. Esophageal anastomosis has always been a challenge in pediatric surgery. Anastomosis complications are linked to anatomical, biological and technical aspects. Mechanical tension between esophageal ends is an important cause of complications including anastomotic leaks or dehiscence. Eleven cases of esophageal stenoses, surgically treated in the Pediatric Surgery Department of Emergency Clinical Hospital for Children 'Marie S. Curie' by a single team in 5 years, were included in the present study. The results showed that, the main causes of esophageal stenosis were represented by corrosive esophageal injury in five cases, complications of esophageal atresia repair in three cases, congenital esophageal stenosis in two cases and chemotherapy-induced esophageal necrosis in acute lymphoblastic leukemia treatment in one case. The authors also designed and presented a device facilitating esophageal anastomosis under tension. Its principle involved temporary absorption of tension at secure points of the two esophageal pouches and reallocating it in equal amounts following anastomosis while decreasing any stretch-related tissue trauma. In conclusion, this auxiliary tool is beneficial for esophageal anastomosis; however, the standard steps of the esophageal anastomosis procedure should still be considered when necessary.
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The appearance of urological complications is a major problem in obstetrics and gynecologic surgery; the bladder is the most common damaged organ. Due to a continuous increase in the rate of cesareans, the incidence of urologic complications will be potentially higher. We reviewed the most important risk factors for urinary tract injury and analyzed the strategies necessary to avoid these situations during vaginal birth after cesarean (VBAC). The risks and benefits of VBAC should be balanced before deciding the mode of delivery.
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Ruptura Uterina , Nascimento Vaginal Após Cesárea , Feminino , Humanos , Incidência , Gravidez , Estudos Retrospectivos , Fatores de Risco , Nascimento Vaginal Após Cesárea/efeitos adversosRESUMO
BACKGROUND: Locally advanced pancreatic cancer invading the surrounding vascular structures has long been considered as unresectable and, therefore, patients were usually submitted to palliative chemotherapy. CASE REPORT: We present the case of a 44-year-old male investigated for weight loss and abdominal pain and diagnosed with a locally advanced pancreatic tumor invading the celiac axis. An endoscopic ultrasound was performed and a biopsy was retrieved demonstrating the presence of a moderately differentiated pancreatic adenocarcinoma. After discussing with the patient the risks and the benefits of performing an extended surgical procedure, the patient consented to distal pancreatectomy en bloc with celiac axis resection. Postoperatively, the patient was submitted to low-molecular-weight heparin therapy for 3 weeks followed by oral anticoagulant for 2 months. Histopathological studies confirmed the presence of a moderately differentiated pancreatic adenocarcinoma invading the celiac axis and described negative resection margins. CONCLUSION: Although celiac axis invasion has been considered for a long period of time as a sign of unresectable disease due to the high rates of perioperative complications, it seems that in selected cases, surgery can be safely performed with curative intent, especially if negative resection margins are achieved.
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Adenocarcinoma , Neoplasias Pancreáticas , Adenocarcinoma/tratamento farmacológico , Adenocarcinoma/cirurgia , Adulto , Artéria Celíaca/diagnóstico por imagem , Artéria Celíaca/cirurgia , Humanos , Masculino , Pâncreas , Pancreatectomia , Neoplasias Pancreáticas/tratamento farmacológico , Neoplasias Pancreáticas/cirurgiaRESUMO
BACKGROUND/AIM: Thymic lipofibroadenoma is a benign growth of unknown etiology extremely rarely described in the literature, morphologically resembling lipofibroadenoma of the breast. The diagnosis is usually a postoperative surprise and is made by the anatomopathologist. Surgical resection is curative. CASE REPORT: The presented case is the first reported in a woman, to date. The patient was successfully submitted to surgery and complete resection of the giant intrathoracic tumor was performed. The histopathological and immunohistochemical studies came to demonstrated the presence of a thymic lipofibroadenoma while the postoperative outcomes were favorable. CONCLUSION: In cases presenting large intrathoracic tumors complete resection is able to provide a significant improvement of the general condition of the patient, as well as a chance for cure.
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Neoplasias do Sistema Respiratório , Timoma , Neoplasias do Timo , Feminino , Humanos , Período Pós-Operatório , Neoplasias do Timo/diagnóstico , Neoplasias do Timo/cirurgiaRESUMO
BACKGROUND: pancreatic cancer is one of the most lethal malignancies and a leading cause of cancer-related death worldwide. The only chance to improve the long-term outcomes of patients with pancreatic cancer is surgery with radical intent. METHODS: in the present paper, we aim to describe a case series of 9 patients submitted to radical surgery for borderline resectable pancreatic cancer. RESULTS: in all cases, negative resection margins were achieved. The types of venous resection consisted of tangential portal vein resection in four cases, circumferential portal vein resection with direct reanastomosis in one case and circumferential resection with graft placement in another four cases; postoperatively, one patient developed a vascular surgery-related complication consisting of graft thrombosis and thus necessitated prolonged anticoagulant therapy. CONCLUSIONS: extended venous resections can be a safe and efficient way to maximize the benefits of radical surgery in locally advanced, borderline resectable pancreatic cancer.
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BACKGROUND/AIM: Pancreatic cancer represents the most lethal abdominal malignancy, the only chance for achieving an improvement in terms of survival being represented by radical surgery. Although it has been considered that venous invasion represents a contraindication for resection, recently it has been demonstrated that in regards to overall survival after radical resection, it is similar to the one reported after standard pancreatoduodenectomy. CASE REPORT: A 53-year-old patient with no significant medical past was diagnosed with a borderline resectable pancreatic adenocarcinoma invading the superior mesenteric vein. The patient was submitted to pancreatoduodenectomy en bloc with superior mesenteric vein resection; the two jejunal veins were further anastomosed to the remnant portal vein. The postoperative outcome was favorable; the patient was discharged in the 10th postoperative day. CONCLUSION: Although technically more demanding, pancreatoduodenectomy en bloc with superior mesenteric vein resection and jejunal portal anastomosis is feasible and might offer a chance for long-term survival in borderline pancreatic head carcinoma invading the superior mesenteric vein.
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Adenocarcinoma , Neoplasias Pancreáticas , Adenocarcinoma/cirurgia , Anastomose Cirúrgica , Humanos , Veias Mesentéricas/cirurgia , Pessoa de Meia-Idade , Neoplasias Pancreáticas/cirurgia , Pancreaticoduodenectomia , Veia Porta/cirurgiaRESUMO
BACKGROUND/AIM: Left ventricular aneurysms are complications following acute myocardial infarction. Left posterior left ventricular aneurysms occurring in a submitral position constitute a minor entity, and those leaving the mitral apparatus intact are extremely rare. CASE REPORT: Herein, we report the case of a 58-year-old patient with a past medical history of coronary artery disease and myocardial infarction with a giant left posterior left ventricular aneurysm with moderate mitral valve incompetence. RESULTS: The patient underwent myocardial revascularization and, through a transaneurysmal approach, successful endoventricular pericardial patch wall reconstruction with no impact on mitral valve competence. CONCLUSION: Whenever the mitral valve is not affected, a trans aneurysmal approach with endoventricular pericardial patch in association with myocardial revascularization represents a safe and reproducible approach with good functional outcomes.
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Aneurisma Cardíaco , Infarto do Miocárdio , Aneurisma Cardíaco/diagnóstico por imagem , Aneurisma Cardíaco/cirurgia , Ventrículos do Coração/diagnóstico por imagem , Ventrículos do Coração/cirurgia , Humanos , Pessoa de Meia-Idade , Valva Mitral/diagnóstico por imagem , Valva Mitral/cirurgia , Pericárdio/diagnóstico por imagem , Pericárdio/cirurgiaRESUMO
Background/Aim: The aim of the study was to report the case of a 5-month-old boy with a complex prenatal and neonatal symptomatology diagnosed with a "de novo" pathogenic variant of PUF60 gene. Case Report: Our hospital, undertook the antenatal and postnatal care of a 27-year-old pregnant lady. This was her second baby with a previously healthy boy. During her routine first-trimester anomaly scan, increased nuchal translucency was noticed. Multiple anomalies were seen throughout her subsequent antenatal visits. This triggered a sequence of tests, examinations and differential diagnosis. The final diagnosis was made at 5 months postpartum following the result of the whole exome sequence, which described a variant of unknown clinical significance (VUS, class 3 variant) in the PUF60 gene. We are mindful that changing the classification of a variant of unknown significance is challenging and requires supporting and robust criteria. Considering clinical symptomatology produced by the pathogenic mutation in the PUF gene, the identified c.1640A>G variant may be categorized as likely pathogenic. Conclusion: Our case adds new insights on the pathology and the underlying process involved in the PUF60 variant spectrum disorders. It also highlights the limits of current prenatal tests.
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Background/Aim: Thymomas are a rare type of mediastinal tumors with a slow growth rate. Because of this, they are well tolerated and patients usually present with large masses, which can extend in either of the thoracic cavities. The surgical approach for such tumors is dictated by the size and localization of the mass. Case Report: We present the case of a patient with a large thymoma, resected through surgery performed by left antero-lateral thoracotomy. The patient presented in our clinic with a persistent cough, dyspnea, chest pain and tightness. Standard thoracic X-ray revealed a bilateral increase in size of the mediastinal shadow, mainly on the left side, with well-defined margins and subcostal intensity. A thoracic computed tomography (CT) scan discovered a tumoral mass within the antero-superior mediastinum, with compression of the mediastinal organs; presentation being suggestive for a thymoma. Surgery was performed, removing a 15/13/10 cm thymoma with a weight of 1126 g. Pathological examination as well as immunohistochemistry confirmed our diagnosis of type AB thymoma, stage I Masaoka-Koga. Conclusion: In conclusion, surgical treatment remains the main therapeutic option in thymomas, but it is often difficult to perform due to tumor size and local invasion. However, even in large thymomas of stages I and II, surgery can be performed using an antero-lateral thoracotomy.
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Elderly patients are a special category of patients, due to the physiological changes induced by age, the great number of comorbidities and drug treatment and last, but not least, to the cognitive dysfunction frequently encountered in this population. Cardiovascular disease is the most important cause of morbidity and mortality in elderly individuals worldwide. The rate of cardiovascular events increases after 65 years in men and after 75 years in women. Myocardial infarction and stroke are the leading disorders caused by atherosclerosis, that lead to death or functional incapacity. Elderly people have a greater risk to develop atherosclerotic cardiovascular disease. The incidence and prevalence of atherosclerosis increase with age and the number of cardiovascular events is higher in elderly patients. The most efficient treatment against atherosclerosis is the treatment with statins, that has been shown to decrease the risk both of stroke and coronary artery disease in all age groups. The advantages of the treatment become evident after at least one year of treatment. Primary prevention is the most important way of preventing cardiovascular disease in elderly individuals, by promoting a healthy lifestyle and reducing the risk factors. Secondary prevention after a stroke or myocardial infarction includes mandatory a statin, to diminish the risk of a recurrent cardiovascular event. The possible side effects of statin therapy are diabetes mellitus, myopathy, and rhabdomyolysis, hepatotoxicity. The side effects of the treatment are more likely to occur in elderly patients, due to their multiple associated comorbidities and drugs that may interact with statins. In elderly people, the benefits and disadvantages of the treatment with statins should be put in balance, especially in those receiving high doses of statins.
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Doenças Cardiovasculares/tratamento farmacológico , Geriatria/instrumentação , Inibidores de Hidroximetilglutaril-CoA Redutases/uso terapêutico , Idoso , Idoso de 80 Anos ou mais , Doenças Cardiovasculares/mortalidade , Feminino , Geriatria/métodos , Humanos , Inibidores de Hidroximetilglutaril-CoA Redutases/efeitos adversos , Inibidores de Hidroximetilglutaril-CoA Redutases/farmacologia , Masculino , Estudos ProspectivosRESUMO
Two familial forms of colorectal cancer (CRC), Lynch syndrome (LS) and familial adenomatous polyposis (FAP), are caused by rare mutations in DNA mismatch repair genes (MLH1, MSH2, MSH6, PMS2) and the genes APC and MUTYH, respectively. No information is available on the presence of high-risk CRC mutations in the Romanian population. We performed whole-genome sequencing of 61 Romanian CRC cases with a family history of cancer and/or early onset of disease, focusing the analysis on candidate variants in the LS and FAP genes. The frequencies of all candidate variants were assessed in a cohort of 688 CRC cases and 4567 controls. Immunohistochemical (IHC) staining for MLH1, MSH2, MSH6, and PMS2 was performed on tumour tissue. We identified 11 candidate variants in 11 cases; six variants in MLH1, one in MSH6, one in PMS2, and three in APC. Combining information on the predicted impact of the variants on the proteins, IHC results and previous reports, we found three novel pathogenic variants (MLH1:p.Lys84ThrfsTer4, MLH1:p.Ala586CysfsTer7, PMS2:p.Arg211ThrfsTer38), and two novel variants that are unlikely to be pathogenic. Also, we confirmed three previously published pathogenic LS variants and suggest to reclassify a previously reported variant of uncertain significance to pathogenic (MLH1:c.1559-1G>C).
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Polipose Adenomatosa do Colo/genética , Neoplasias Colorretais Hereditárias sem Polipose/genética , Reparo de Erro de Pareamento de DNA/genética , Predisposição Genética para Doença , Polipose Adenomatosa do Colo/epidemiologia , Polipose Adenomatosa do Colo/patologia , Adulto , Idoso , Neoplasias Colorretais Hereditárias sem Polipose/epidemiologia , Neoplasias Colorretais Hereditárias sem Polipose/patologia , DNA Glicosilases/genética , Metilação de DNA/genética , Proteínas de Ligação a DNA/genética , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Endonuclease PMS2 de Reparo de Erro de Pareamento/genética , Proteína 1 Homóloga a MutL/genética , Proteína 2 Homóloga a MutS/genética , Mutação , Fatores de Risco , Romênia/epidemiologiaRESUMO
To find sequence variants affecting prostate cancer (PCA) susceptibility in an unscreened Romanian population we use a genome-wide association study (GWAS). The study population included 990 unrelated pathologically confirmed PCA cases and 1034 male controls. DNA was genotyped using Illumina SNP arrays, and 24.295.558 variants were imputed using the 1000 Genomes data set. An association test was performed between the imputed markers and PCA. A systematic literature review for variants associated with PCA risk identified 115 unique variants that were tested in the Romanian sample set. Thirty of the previously reported SNPs replicated (P-value < 0.05), with the strongest associations observed at: 8q24.21, 11q13.3, 6q25.3, 5p15.33, 22q13.2, 17q12 and 3q13.2. The replicated variants showing the most significant association in Romania are rs1016343 at 8q24.21 (P = 2.2 × 10-4 ), rs7929962 at 11q13.3 (P = 2.7 × 10-4 ) and rs9364554 at 6q25.2 (P = 4.7 × 10-4 ). None of the variants tested in the Romanian GWAS reached genome-wide significance (P-value <5 × 10-8 ) but 807 markers had P-values <1 × 10-4 . Here, we report the results of the first GWAS of PCA performed in a Romanian population. Our study provides evidence that a substantial fraction of previously validated PCA variants associate with risk in this unscreened Romanian population.