Genetic variants of antioxidant enzymes and environmental exposures as molecular biomarkers associated with the risk and aggressiveness of bladder cancer.

Bladder cancer (BC) is one of the top 10 most common tumours worldwide; however, no molecular markers are currently available for tumour management and follow-up. BC could benefit from molecular biomarkers in environmental disease, which provide mechanistic understanding of individual susceptibility to exposure-related cancers and allow characterizing genetic alterations in the molecular pathway for malignancy. This case-control study performed a molecular analysis in 99 BC and 125 controls. Buccal swabs were collected to assess SNPs in eleven genes coding for xenobiotic detoxification enzymes, cellular antioxidant defences, and hormone synthesis and signalling (NAT2 (rs1801280), GPX1 (rs1050450 and rs17650792), TXNRD1 (rs7310505), PRDX3 (rs3740562), PON1 (rs662), SOD1 (rs10432782), SOD2 (rs4880), CAT (rs1001179), CYP17A1 (rs743572) and ESR1 (rs746432)). A structured questionnaire was administered to study participants to assess environmental and dietary chemical exposures. Several miRNAs associated with BC and detoxification/antioxidant pathways were analysed in a subsample of the study population, including miR-93-5p, miR-221-3p, miR-126, miR-27a-3p, miR-193b, and miR-193a-5p. Levels of selected environmental pollutants (polycyclic aromatic hydrocarbons and endocrine disrupting chemicals) were determined in urine from a subsample of BC cases and controls. We found that CYP17A1, CAT, SOD1, ESR1, PON1, and GPX1 (rs17650792) were associated with BC risk. Furthermore, exposure to smoke and/or dust, and alcohol intake were identified as risk factors for BC. Increased urinary levels of benzo[a]pyrene and bisphenol A were observed in BC patients relative to controls, along with an increased expression of miR-193b, miR-27a and miR-93-5p in BC. Nevertheless, further studies with a larger sample size are warranted to confirm these exploratory results. This study also shows that the combination of genetic markers (PON1 and CYP17A1) and miRNA (miR-221-3p and miR-93-5p) open a new scenario in the use of non-invasive biomarkers in the stratification of BC to guide personalized medicine, which is extremely urged in the current clinical setting.

Small-calibre percutaneous nephrolithotomy (SC-PCNL). Therapeutic decision algorithm. / Nefrolitectomía percutánea de calibre reducido (NLP-CR). Algoritmo de decisión terapéutica.

INTRODUCTION: The progressive reduction in the calibre of the tract in percutaneous kidney surgery to the point of miniaturisation has expanded its use to smaller stones that until now have been treated with extracorporeal shock wave lithotripsy (ESWL) and retrograde intrarenal surgery (RIRS). OBJECTIVE: To provide an update on the various techniques of small-calibre nephrolithotomy (SC-PCNL) analyse their efficacy, safety and indications and determine their degree of implantation at this time. MATERIAL AND METHODS: We performed a review in PubMed of Spanish and English medical literature on the various techniques of SC-PCNL. RESULTS: The use of SC-PCNL has reduced the morbidity associated with standard PCNL, particularly bleeding, and has enabled tubeless nephrolithotomy with greater safety. There are various techniques with blurred terminology (Miniperc, Microperc, Mini-microperc, Ultraminiperc), which differ in terms of gauge employed and in certain technical aspects that require their indications be specified. Currently, SC-PCNL competes with techniques that are less invasive than standard PCNL such as ESWL and the RIRS in treating small stones, but the role of SC-PCNL is still not sufficiently understood and continues to be the subject of debate. CONCLUSIONS: The indications for PCNL are expanding to small stone sizes due to the miniaturisation of the technique. PCNL competes in this field with ESWL and RIRS. Larder studies are needed to establish the specific indications for PCNL in treating nephrolithiasis.

Validación psicométrica de la versión en castellano del cuestionario USS-PROM para pacientes sometidos a cirugía de uretra anterior / Psychometric validation of the Spanish version of the USS-PROM questionnaire for patients who undergo anterior urethral surgery

Objetivo: Traducir y validar en lengua castellana el cuestionario Urethral Stricture Surgery Patient-Reported Outcome Measure (USS-PROM), evaluar sus propiedades psicométricas y determinar su idoneidad para su uso clínico en nuestro medio. Adicionalmente, se valoraron los posibles cambios en la función eyaculatoria mediante el Male Sexual Health Questionnaire-Ejaculatory Dysfunction (MSHQ-EjD). Material y métodos: Se realizó una traducción sistemática de la versión británica. De forma prospectiva, entre septiembre 2014 y septiembre 2015 se incluyeron pacientes programados para cirugía de estenosis de uretra anterior. Todos los pacientes completaron el cuestionario antes y después de la cirugía. Se realizó un estudio psicométrico en profundidad del cuestionario. Resultados: Se evaluaron las respuestas de un total de 40 pacientes. El cuestionario demostró su validez presentando excelente correlación negativa entre las puntuaciones de los síntomas de vaciado y el flujo máximo (r = −0,6, p < 0,001), y mostrando también mejoría significativa en el EQ5D-visual analogue scale (VAS) y el time trade-off (TTO). Para la consistencia interna, el alfa de Cronbach fue de 0,701. Para la fiabilidad test-retest el coeficiente de correlación intraclase (CCI) global fue de 0,974 y los CCI de cada ítem por separado oscilaron entre 0,799 y 0,980. Se observaron mejoras significativas en todos los ítems de síntomas miccionales y calidad de vida relacionada con la salud (CVRS) (p < 0,001), quedando demostrada la capacidad de respuesta al cambio del cuestionario. No observamos cambios significativos en el MSHQ-EjD. Conclusiones: La versión en castellano del cuestionario USS-PROM es un instrumento válido para cuantificar los cambios en los síntomas de vaciado y la CVRS de los pacientes sometidos a cirugía de uretra anterior

Ojective: To translate into Spanish and validate the Urethral Stricture Surgery Patient-Reported Outcome Measure (USS-PROM) questionnaire, assessing its psychometric properties and determining its suitability for clinical use in our community. We also assessed the potential changes in ejaculatory function using the Male Sexual Health Questionnaire-Ejaculatory Dysfunction (MSHQ-EjD). Material and methods: A systematic translation of the British version was performed. Patients scheduled for anterior urethral stricture surgery between September 2014 and September 2015 were prospectively included in the study. All patients completed the questionnaire before and after the surgery. We conducted an in-depth psychometric study of the questionnaire. Results: We assessed the responses of a total of 40 patients. The questionnaire showed its validity, presenting an excellent negative correlation between the voiding symptom scores and the maximum flow (r = −0.6,P < .001), and also showed significant improvement in the EQ5D-VAS (visual analogue scale) and the time trade-off. For internal consistency, the Cronbach's alpha was 0.701. For the test-retest reliability, the overall intraclass correlation coefficient (ICC) was 0.974, and the ICC for each item separately ranged from 0.799 to 0.980. We observed significant improvement in all items regarding urinary symptoms and health-related quality of life (P < .001), thereby demonstrating the response capacity to changing the questionnaire. There were no significant changes in the MSHQ-EjD. Conclusions: The Spanish version of the USS-PROM questionnaire is a valid instrument for quantifying changes in voiding symptoms and the health-related quality of life of patients undergoing anterior urethral surgery

Psychometric validation of the Spanish version of the USS-PROM questionnaire for patients who undergo anterior urethral surgery. / Validación psicométrica de la versión en castellano del cuestionario USS-PROM para pacientes sometidos a cirugía de uretra anterior.

OBJECTIVE: To translate into Spanish and validate the Urethral Stricture Surgery Patient-Reported Outcome Measure (USS-PROM) questionnaire, assessing its psychometric properties and determining its suitability for clinical use in our community. We also assessed the potential changes in ejaculatory function using the Male Sexual Health Questionnaire-Ejaculatory Dysfunction (MSHQ-EjD). MATERIAL AND METHODS: A systematic translation of the British version was performed. Patients scheduled for anterior urethral stricture surgery between September 2014 and September 2015 were prospectively included in the study. All patients completed the questionnaire before and after the surgery. We conducted an in-depth psychometric study of the questionnaire. RESULTS: We assessed the responses of a total of 40 patients. The questionnaire showed its validity, presenting an excellent negative correlation between the voiding symptom scores and the maximum flow (r=-0.6, P<.001), and also showed significant improvement in the EQ5D-VAS (visual analogue scale) and the time trade-off. For internal consistency, the Cronbach's alpha was 0.701. For the test-retest reliability, the overall intraclass correlation coefficient (ICC) was 0.974, and the ICC for each item separately ranged from 0.799 to 0.980. We observed significant improvement in all items regarding urinary symptoms and health-related quality of life (P<.001), thereby demonstrating the response capacity to changing the questionnaire. There were no significant changes in the MSHQ-EjD. CONCLUSIONS: The Spanish version of the USS-PROM questionnaire is a valid instrument for quantifying changes in voiding symptoms and the health-related quality of life of patients undergoing anterior urethral surgery.