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1.
Eur Urol Oncol ; 4(2): 315-318, 2021 04.
Artículo en Inglés | MEDLINE | ID: mdl-31307957

RESUMEN

Early identification of germline BRCA1/2 mutations may be relevant for the management of patients with prostate cancer (PC) and to prevent future breast and ovarian cancers in their relatives. Several prediction tools have been developed to estimate the likelihood of a germline BRCA1/2 mutation and are widely used to optimize screening in breast and ovarian cancer patients. We aimed to elucidate the proportion of PC patients with known BRCA1/2 mutations who would have qualified for testing using two risk calculation models (BRCAPRO and the Manchester scoring system [MSS]). We analyzed 106 families with known BRCA1/BRCA2 mutations, including 23 with PC cases. Only 30% and 48% of PC patients who were known BRCA1/BRCA2 mutations carriers would have qualified for testing using BRCAPRO and MSS, respectively. A median of two breast and/or ovarian cancer cases per family had occurred between the first PC identified in a carrier and the cancer case leading to germline testing. PATIENT SUMMARY: We tested two models developed to predict the probability of inherited BRCA1/BRCA2 mutations and found that these tools underperform in men with prostate cancer and should not be used to optimize testing in this population.


Asunto(s)
Genes BRCA1 , Genes BRCA2 , Mutación de Línea Germinal , Neoplasias Ováricas , Neoplasias de la Próstata , Proteína BRCA1/genética , Proteína BRCA2/genética , Femenino , Células Germinativas , Humanos , Masculino , Neoplasias Ováricas/diagnóstico , Neoplasias Ováricas/genética , Neoplasias de la Próstata/diagnóstico , Neoplasias de la Próstata/genética
2.
Arch Esp Urol ; 63(7): 537-44, 2010 Sep.
Artículo en Inglés, Español | MEDLINE | ID: mdl-20876950

RESUMEN

OBJECTIVES: Dorsal urethroplasty as described by Barbagli has gained wide acceptance in the treatment of urethral stricture, given the simplification afforded by obtaining a free graft versus a flap. We present a series of 50 patients treated in our department of urethral stricture by dorsal onlay free graft urethroplasty (Barbagli's technique), in combination or not to other techniques in more complex strictures. METHODS: The average age of patients was 48.8 years (23-77), the mean follow up 42.9 months (12-96) and the most frequently observed etiology has been the inflammatory urethral stricture (50%). RESULTS: Overall success rate was 82% (41 cases) and failure 18% (9 cases). In the longer follow-up group, there was a slight drop in success rate of 80% (24 cases) without any significant differences between groups (p= 0.9). Analyzing the variables length of free graft (p= 0.50, p> 36= 0.53), age (p= 0.12, p>36= 0.59), etiology of stricture (p= 0.77, p>36 = 0.77) and type of graft used (p=0.24, p>36= 0.38) did not show any influence on the final outcome of surgery, both in the total sample and the subgroup with follow-up > 36 months. The location of the stricture in bulbar urethra has shown better functional outcome than those operated on for strictures affecting also other urethral locations (p= 0.001) maintaining that result in the group of longer follow up (p>36= 0,001). The lack of treatment prior to urethral surgery has influenced the success of it, since 90.6% of patients without prior treatment before urethroplasty have seen a good functional outcome, compared to treatment prior to surgery that obtained a 66.7% (p= 0.03). This significance is also demonstrated in the group of follow-up > 36 months (p>36= 0.01). CONCLUSION: The dorsal onlay free graft urethroplasty is a versatile and reproducible technique with acceptable results which allows combination with other techniques when the stenosis extends to the penile urethra. In exceptional cases of panurethral strictures secondary to lichen sclerosus when there is no significant spongiofibrosis and an acceptable urethral plate, can be applied to the whole urethra.


Asunto(s)
Estrechez Uretral/cirugía , Adulto , Anciano , Humanos , Persona de Mediana Edad , Resultado del Tratamiento , Procedimientos Quirúrgicos Urológicos Masculinos/métodos , Adulto Joven
8.
Arch. esp. urol. (Ed. impr.) ; 63(7): 537-545, sept. 2010. tab, ilus
Artículo en Español | IBECS (España) | ID: ibc-83191

RESUMEN

OBJETIVO: La uretroplastia dorsal descrita por Barbagli ha ganado amplia aceptación en el tratamiento de la estenosis de uretra, dada la simplificación que otorga la obtención del injerto libre frente a los pediculados.Presentamos una serie de 50 casos intervenidos en nuestro servicio de estenosis de uretra mediante uretroplastia dorsal con injerto libre (técnica de Barbagli), asociado o no a otras tecnicas en estenosis mas complejas.MÉTODOS: La edad media de los pacientes ha sido de 48.8 años (23-77), el tiempo de seguimiento medio de 42.9 meses (12-96) y la etiología más observada ha sido la estenosis uretral inflamatoria (50%).RESULTADOS: La tasa global de éxito ha sido del 82% (41 casos) y la de fracaso 18% (9 casos). En el grupo de mayor seguimiento, se observa un leve descenso de la tasa de éxito del 80% (24 casos) sin que se aprecien diferencias entre ambos grupos (p=0.98).El análisis de las variables longitud del injerto (p=0.50; p>36=0.53), edad (p= 0.12; p>36=0.59), etiología de la estenosis (p=0.77; p>36=0.77) y tipo de injerto utilizado (p=0.24; p>36=0.38), no demostraron ejercer influencia alguna en el resultado final de la cirugía, tanto en el total de la muestra como en el subgrupo de seguimiento >36 meses.La localización de la estenosis en uretra bulbar ha demostrado mejor resultado funcional que los intervenidos por estenosis que afectaban además a otras zonas de la uretra (p= 0.001) manteniéndose dicho resultado en el grupo de mayor seguimiento (p>36=0.001).La ausencia de tratamiento previo a la cirugía uretral ha influenciado el éxito de la misma, ya que el 90.6% de pacientes sin tratamiento anterior a la uretroplastia han observado un buen resultado funcional frente al grupo de tratamiento previo a cirugía que lo ha obtenido en un 66.7% (p=0.03). Esta significación también se demuestra en el grupo de 36 meses (p>36 = 0.01)(AU)


CONCLUSIÓN: La uretroplastia dorsal con injerto libre es una técnica versátil y reproducible con unos resultados aceptables que permite su asociación a otras técnicas cuando la estenosis se extiende a la uretra peneana(AU)


OBJECTIVES: Dorsal urethroplasty as described by Barbagli has gained wide acceptance in the treatment of urethral stricture, given the simplification afforded by obtaining a free graft versus a flap.We present a series of 50 patients treated in our de-partment of urethral stricture by dorsal onlay free graft urethroplasty (Barbagli’s technique), in combination or not to other techniques in more complex strictures.METHODS: The average age of patients was 48.8 years (23-77), the mean follow up 42.9 months (12-96) and the most frequently observed etiology has been the inflammatory urethral stricture (50%).RESULTS: Overall success rate was 82% (41 cases) and failure 18% (9 cases). In the longer follow-up group, there was a slight drop in success rate of 80% (24 ca-ses) without any significant differences between groups (p= 0.98).Analyzing the variables length of free graft (p= 0.50, p> 36= 0.53), age (p= 0.12, p>36= 0.59), etiology of stricture (p= 0.77, p>36 = 0.77) and type of graft used (p=0.24, p>36= 0.38) did not show any influence on the final outcome of surgery, both in the total sample and the subgroup with follow-up > 36 months.The location of the stricture in bulbar urethra has shown better functional outcome than those operated on for stric-tures affecting also other urethral locations (p= 0.001) maintaining that result in the group of longer follow up (p>36= 0,001).The lack of treatment prior to urethral surgery has influen-ced the success of it, since 90.6% of patients without prior treatment before urethroplasty have seen a good func-tional outcome, compared to treatment prior to surgery that obtained a 66.7% (p= 0.03). This significance is also demonstrated in the group of follow-up > 36 months (p>36= 0.01)(AU)


CONCLUSION: The dorsal onlay free graft urethroplas-ty is a versatile and reproducible technique with accep-table results which allows combination with other tech-niques when the stenosis extends to the penile urethra. In exceptional cases of panurethral strictures secondary to lichen sclerosus when there is no significant spongiofi-brosis and an acceptable urethral plate, can be applied to the whole urethra(AU)


Asunto(s)
Humanos , Estrechez Uretral/cirugía , Procedimientos Quirúrgicos Urológicos/métodos , Colgajos Quirúrgicos , Tolerancia al Trasplante/fisiología , Complicaciones Posoperatorias/epidemiología
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