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BACKGROUND: Cystine stone is a Mendelian genetic disease caused by SLC3A1 or SLC7A9. In this study, we aimed to estimate the genetic prevalence of cystine stones and compare it with the clinical prevalence to better understand the disease etiology. METHODS: We analyzed genetic variants in the general population using the 1000 Genomes project and the Human Gene Mutation Database to extract all SLC3A1 and SLC7A9 pathogenic variants. All variants procured from both databases were intersected. Pathogenic allele frequency, carrier rate, and affected rate were calculated and estimated based on Hardy-Weinberg equilibrium. RESULTS: We found that 9 unique SLC3A1 pathogenic variants were carried by 26 people and 5 unique SLC7A9 pathogenic variants were carried by 12 people, all of whom were heterozygote carriers. No homozygote, compoun d heterozygote, or double heterozygote was identified in the 1000 Genome database. Based on the Hardy-Weinberg equilibrium, the calculated genetic prevalence of cystine stone disease is 1 in 30,585. CONCLUSION: The clinical prevalence of cystine stone has been previously reported as 1 in 7,000, a notably higher figure than the genetic prevalence of 1 in 30,585 calculated in this study. This suggests that the etiology of cystine stone is more complex than what our current genetic knowledge can explain. Possible factors that may contribute to this difference include novel causal genes, undiscovered pathogenic variants, alternative inheritance models, founder effects, epigenetic modifications, environmental factors, or other modifying factors. Further investigation is needed to fully understand the etiology of cystine stone.
Subject(s)
Amino Acid Transport Systems, Basic , Cystine , Cystinuria , Humans , Amino Acid Transport Systems, Basic/genetics , Cystine/metabolism , Cystinuria/genetics , Gene Frequency , Genetics, Population , MutationABSTRACT
PURPOSE: Radiomics in uro-oncology is a rapidly evolving science proving to be a novel approach for optimizing the analysis of massive data from medical images to provide auxiliary guidance in clinical issues. This scoping review aimed to identify key aspects wherein radiomics can potentially improve the accuracy of diagnosis, staging, and extraprostatic extension in prostate cancer (PCa). METHODS: The literature search was performed on June 2022 using PubMed, Embase, and Cochrane Central Controlled Register of Trials. Studies were included if radiomics were compared with radiological reports only. RESULTS: Seventeen papers were included. The combination of PIRADS and radiomics score models improves the PIRADS score reporting of 2 and 3 lesions even in the peripheral zone. Multiparametric MRI-based radiomics models suggest that by simply omitting diffusion contrast enhancement imaging in radiomics models can simplify the process of analysis of clinically significant PCa by PIRADS. Radiomics features correlated with the Gleason grade with excellent discriminative ability. Radiomics has higher accuracy in predicting not only the presence but also the side of extraprostatic extension. CONCLUSIONS: Radiomics research on PCa mainly uses MRI as an imaging modality and is focused on diagnosis and risk stratification and has the best future possibility of improving PIRADS reporting. Radiomics has established its superiority over radiologist-reported outcomes but the variability has to be taken into consideration before translating it to clinical practice.
Subject(s)
Multiparametric Magnetic Resonance Imaging , Prostatic Neoplasms , Male , Humans , Prostatic Neoplasms/diagnostic imaging , Prostatic Neoplasms/pathology , Magnetic Resonance Imaging/methods , Neoplasm Grading , Radiologists , Retrospective StudiesABSTRACT
Coated urethral catheters were introduced in clinical practice to reduce the risk of catheter-acquired urinary tract infection (CAUTI). We aimed to systematically review the incidence of CAUTI and adverse effects in randomized clinical trials of patients requiring indwelling bladder catheterization by comparing coated vs. non-coated catheters. This review was performed according to the 2020 PRISMA framework. The incidence of CAUTI and catheter-related adverse events was evaluated using the Cochran−Mantel−Haenszel method with a random-effects model and reported as the risk ratio (RR), 95% CI, and p-values. Significance was set at p < 0.05 and a 95% CI. Twelve studies including 36,783 patients were included for meta-analysis. There was no significant difference in the CAUTI rate between coated and non-coated catheters (RR 0.87 95% CI 0.75−1.00, p = 0.06). Subgroup analysis demonstrated that the risk of CAUTI was significantly lower in the coated group compared with the non-coated group among patients requiring long-term catheterization (>14 days) (RR 0.82 95% CI 0.68−0.99, p = 0.04). There was no difference between the two groups in the incidence of the need for catheter exchange or the incidence of lower urinary tract symptoms after catheter removal. The benefit of coated catheters in reducing CAUTI risk among patients requiring long-term catheterization should be balanced against the increased direct costs to health care systems when compared to non-coated catheters.
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INTRODUCTION: The preparation of medical students for internship during medical school is variable, which can negatively affect the performance and confidence of new urology residents year 1. The primary objective is to assess the need for a workshop/curriculum to prepare medical students transitioning to urology residency. Our secondary objective is to identify the appropriate workshop/curriculum design and to identify the needed topics. METHODS: A survey was developed to evaluate the utility of a Urology Intern Boot Camp for incoming first year urology residents utilizing 2 existing intern boot camp models from other surgical disciplines. Urology Intern Boot Camp content and format and programmatic structure were also considered. The survey was sent to all first- and second-year urology residents and urology residency program directors and chairs. RESULTS: A total of 730 surveys were sent, including 362 first- and second-year urology residents and 368 program directors/chairs. Responses were received from 63 residents and 80 program directors/chairs for an overall response rate of 20%. Only 9% of urology programs provide a Urology Intern Boot Camp. Interest in participating in Urology Intern Boot Camp was high with 92% of residents interested. Programmatic support for a Urology Intern Boot Camp was also high with 72% of program directors/chairs willing to allow time off and 51% willing to financially support intern participation. CONCLUSIONS: There is significant interest from urology residents and program directors/chairs in providing incoming urology interns a boot camp. The format of the Urology Intern Boot Camp preferred was a combination of didactics and hands-on skills, and a hybrid delivery model of virtual and in-person carried out in multiple sites around the country.
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BACKGROUND: Approximately 12% of all ureteral stents placed are retained or "forgotten." Forgotten stents are associated with significant safety concerns as well as increased costs and legal issues. Retained ureteral stents (RUS) often occur due to lack of clinical follow-up, communication or language barriers, and economic concerns. METHODS: We describe a multiplatform application that facilitates data collection to prevent RUS. The "Stent Tracker" application can be installed on mobile devices and computers. The encrypted and password-protected information is accessible from any device and provides information about each procedure, stent placement and removal dates, as well as product description. This multicenter retrospective study included 194 patients who underwent stent placement between July and October 2015. Nominal data was tallied and ordinal data was divided into quartiles of 25, 50, and 75%. RESULTS: A total of 194 patients from three institutions underwent ureteral stent placement. Reasons for stent placement include 122 cases post ureteroscopy (63%), 8 cases post percutaneous nephrolithotomy (PCNL) (4%), 14 cases post extracorporeal shock wave lithotripsy (SWL) (7%), 18 cases of cancer-related ureteral obstruction (9%), 21 cases of hydronephrosis (11%), and 11 for other reasons (6%). Of these patients, only one patient was lost to follow-up (0.5%). On average, ureteral stents were removed within 14 days of placement (IQR: 8-26 days). CONCLUSIONS: The "Stent Tracker" is a patient safety application that provides a secure and simplified interface, which can significantly reduce the incidence of RUS. Further developments could include automated notifications to patients and staff, color-coding, and integrated information with electronic patient charts.
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PURPOSE: We established an ex vivo model to evaluate the temperature profile of the ureter during laser lithotripsy, the influence of irrigation on temperature, and thermal spread during lithotripsy with the holmium:yttrium-aluminum-garnet (Ho:YAG) laser. MATERIALS AND METHODS: Two ex vivo models of Ovis aries urinary tract and human calcium oxalate calculi were used. The Open Ureteral Model was opened longitudinally to measure the thermal profile of the urothelium. On the Clinical Model, anterograde ureteroscopy was performed in an intact urinary system. Temperatures were measured on the external portion of the ureter and the urothelium during lithotripsy and intentional perforation. The lithotripsy group (n=20) was divided into irrigated (n=10) and nonirrigated (n=10), which were compared for thermal spread length and values during laser activation. The intentional perforation group (n=10) was evaluated under saline flow. The Ho:YAG laser with a 365 µm laser fiber and power at 10W was used (1J/Pulse at 10 Hz). Infrared Fluke Ti55 Thermal Imager was used for evaluation. Maximum temperature values were recorded and compared. RESULTS: On the Clinical Model, the external ureteral wall obtained a temperature of 37.4°C±2.5° and 49.5°C±2.3° (P=0.003) and in the Open Ureteral Model, 49.7°C and 112.4°C with and without irrigation, respectively (P<0.05). The thermal spread along the external ureter wall was not statically significant with or without irrigation (P=0.065). During intentional perforation, differences in temperatures were found between groups (opened with and without irrigation): 81.8°±8.8° and 145.0°±15.0°, respectively (P<0.005). CONCLUSION: There is an increase in the external ureteral temperature during laser activation, but ureteral thermal values decreased when saline flow was applied. Ureter thermal spread showed no difference between irrigated and nonirrigated subgroups. This is the first laser lithotripsy thermography study establishing the framework to evaluate the temperature profile in the future.