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This study intends to describe for the first time a cohort of Mexican patients with Costello syndrome. The five exons of the HRAS gene were amplified in DNA samples from 13 patients with a clinical suspicion of Costello syndrome. PCR products were sequenced using the Ready Reaction Big Dye Terminator v.3.0 Kit and an ABI PRISM 310 sequencer. Only five patients (38%) showed causal variant in codon 12 of the HRAS gene (four with the p.Gly12Ser and one with the p.Gly12Ala variant). Three patients showed silent polymorphic variants (p.His27His and p.Leu159Leu). Clinical features in patients carrying the causal variant were variable. The alternative diagnosis of cardio-facio-cutaneous syndrome was considered in patients who did not have a causative variant in HRAS.

Introduction The global pandemic of COVID-19 has led to rapid implementation of telemedicine, but there is little information on patient satisfaction of this system as an alternative to face-to-face care. Objective To evaluate urological patient satisfaction with teleconsultation during the COVID-19 pandemic. Material and methods Observational, prospective, cross-sectional, non-interventional study carried out by telephone survey during the period considered as the peak of the pandemic (March-April 2020). A quality survey composed of 11 questions on urological care provided by physicians during the COVID-19 pandemic was conducted, selecting a representative sample of patients attended by teleconsultation. Results Two hundred patients were contacted by telephone to answer a survey on the quality of teleconsultation. The distribution of patients surveyed among the specialized consultations was homogeneous with the number of consultations cited in the period;18% of them required assistance from family members. Sixty percent of patients avoided going to a medical center during the pandemic. Of the surveyed patients, 42% had cancelled diagnostic tests, 59% had cancelled medical consultations, 3.5% had cancelled treatments and 1%, had cancelled interventions. Ten percent reported a worsening of urological symptoms during confinement. According to physicians, consultations were effectively delivered in 72% of cases, with teleconsultation being carried out by their usual urologist in 81%. Teleconsultation overall satisfaction level was 9 (IQI 8−10), and 61.5% of respondents consider teleconsultation as a "health care option" after the healthcare crisis. Conclusion Teleconsultation has been evaluated with a high level of satisfaction during the COVID-19 pandemic, offering continuous care to urological patients during the healthcare crisis. The perceived quality offers a field of optional telematic assistance in selected patients, which should be re-evaluated in a period without confinement measures.

Resumen Contexto El cancer vesical no musculo infiltrante de alto riesgo es una enfermedad que integra un grupo heterogeneo de pacientes, en los que se recomienda un seguimiento estrecho debido al riesgo de progresion a tumor musculo infiltrante. El tratamiento de eleccion de estos tumores es la reseccion transuretral de vejiga seguido de un programa de instilaciones con BCG. Existe un subgrupo de pacientes que tiene un mayor riesgo de progresion, y que se benefician de un tratamiento radical de inicio. Objetivo Identificar que grupo de pacientes con cancer vesical no musculo infiltrante se benefician de un tratamiento radical precoz. Busqueda de la evidencia Se realizo una revision bibliografica para identificar los factores de riesgo de progresion de estos pacientes, y asi poder recomendar un tratamiento que mejore su tasa de supervivencia. Sintesis de la evidencia Se identificaron los diferentes factores pronosticos asociados a progresion tumoral: la persistencia de tumor T1 en la re-reseccion transuretral de vejiga, la presencia de carcinoma in situ , refractariedad al tratamiento con BCG, los mayores de 70 anos, los tumores mayores 3 cm, la subestadificacion de los tumores T1, la presencia de invasion linfovascular y la presencia de tumor en la uretra prostatica. Igualmente se comentan las ventajas del tratamiento radical frente al conservador, apreciando que la realizacion de una cistectomia precoz por un tumor vesical no infiltrante de alto riesgo tiene un mejor pronostico oncologico en comparacion con aquellos en los cuales se difiere la realizacion de la misma hasta la progresion. Conclusiones En esta enfermedad es importante individualizar a los pacientes, para asi ofrecerles un tratamiento personalizado. En pacientes con las caracteristicas mencionadas previamente se recomienda no demorar la cistectomia precoz.

Context High-risk nonmuscle-invasive bladder cancer is a disease that includes a heterogeneous group of patients, for whom close follow-up is recommended due to the risk of progression to a muscle-invasive tumor. The treatment of choice for these tumors is transurethral resection of the bladder tumor followed by a program of bacillus Calmette-Guerin instillations. There is a subgroup of patients who have a greater risk of progression and who benefit from early radical treatment. Objective To identify which patient group with nonmuscle-invasive bladder cancer will benefit from early radical treatment. Searching the evidence We performed a literature review to identify the risk factors for progression for these patients and thereby recommend a treatment that improves their survival rate. Synthesis of the evidence We identified the various prognostic factors associated with tumor progression: the persistence of T1 tumor in re-resection of the bladder tumor, the presence of carcinoma in situ, patients refractory to bacillus Calmette-Guerin treatment, patients older than 70 years, tumors larger than 3 cm, the substaging of T1 tumors, the presence of lymphovascular invasion and the presence of a tumor in the prostatic urethra. Similarly, we comment on the advantages of radical versus conservative treatment, considering that the performance of an early cystectomy due to a high-risk noninvasive vesical tumor has a better cancer prognosis than those in which the operation is deferred until the progression. Conclusions In this disease, it is important to individualize the patients to provide them personalized treatment. For patients with the previously mentioned characteristics, it is recommended that early cystectomy not be delayed.

Resumen Objetivo El objetivo de este estudio fue evaluar la calidad de vida relacionada con la salud en pacientes con cancer de prostata en fases avanzadas para obtener informacion adicional sobre la salud de los pacientes. El creciente interes por conocer la perspectiva del paciente y la escasez de estudios prospectivos en esta poblacion motivaron esta investigacion. Material y metodos Se presenta un estudio observacional realizado en 131 consultas de urologia, con una muestra de 601 pacientes con cancer de prostata localmente avanzado o metastasico, evaluados en 2 visitas: basal y a los 12 meses. Se recogieron variables sociodemograficas, clinicas, de calidad de vida (cuestionarios PROSQoLI y EuroQoL-5D-5L) y ansiedad/depresion (cuestionario HADS). Resultados La edad media (DE) era de 73,8 (8,2) anos y el 87,2% eran jubilados o pensionistas. El 58,7% de los pacientes presentaba cancer de prostata localmente avanzado. La sintomatologia urinaria fue la mas frecuente, disminuyendo significativamente al cabo de un ano (p Conclusiones Este estudio amplia la escasa informacion existente sobre la calidad de vida de la poblacion con cancer de prostata avanzado, informacion de utilidad en el manejo clinico de los pacientes.

Objective The aim of this study was to assess the health-related quality of life of patients with prostate cancer in advanced phases to obtain additional information on the patients’ health. The growing interest in understanding the patient's perspective and the scarcity of prospective studies of this population motivated this research study. Material and methods We present an observational study performed on 131 urology consultations, with a sample of 601 patients with locally advanced or metastatic prostate cancer, assessed during 2 visits: baseline and at 12 months. We collected demographic, clinical, quality-of-life (PROSQoLI and EuroQoL-5D-5L questionnaires) and anxiety/depression (HADS questionnaire) endpoints. Results The mean age (SD) was 73.8 (8.2) years, and 87.2% of the participants were retired or pensioners. Some 58.7% of the patients presented locally advanced prostate cancer. Urinary symptoms were the most common, decreasing significantly after 1 year ( p Conclusions This study broadens the scarce information on the quality of life of the population with advanced prostate cancer, information of use for the clinical management of these patients.

Resumen Concepto La insuficiencia renal en el paciente oncologico se presenta hasta en un tercio de los casos. Se define como una disminucion del filtrado glomerular renal que produce una elevacion de la urea y la creatinina, asi como alteraciones hidroelectroliticas y una acumulacion de productos toxicos. Etiopatogenia Su etiologia es diversa y en ocasiones multifactorial. La manifestacion de forma aguda es la mas frecuente. Es necesario identificar si el motivo es prerrenal, renal o posrenal. Con frecuencia se trata de una insuficiencia de origen prerrenal por disminucion del volumen sanguineo desencadenado por una deplecion hidroelectrolitica, insuficiencia cardiaca, hipotension, etc. que puede mejorar en unas horas con la aportacion de sueroterapia e iones. Sin embargo, es importante descartar otros motivos, ya que la demora en el inicio del tratamiento mas adecuado puede convertir el dano renal en irreversible.

Resumen Introduccion El cancer de vejiga es un tumor de histologia predominantemente urotelial. El consumo de tabaco es el factor etiologico que mas impacto tiene en el desarrollo del mismo. Diagnostico Aproximadamente el 70% de los tumores se diagnostican en estadios iniciales sin afectar al musculo detrusor, por lo que se asocian a altas tasas de supervivencia, aunque pueden recidivar con relativa frecuencia. Tratamiento En los tumores no musculo infiltrante y en funcion de los factores pronosticos se establecen grupos de riesgo (bajo, medio y alto) que determinan el mejor tratamiento posible. En los casos de bajo riesgo es suficiente la administracion de una dosis posoperatoria de quimioterapia intravesical. En los casos de riesgo intermedio el paciente debe recibir quimioterapia o inmunoterapia intravesical adyuvante. En los casos de alto riesgo se recomienda la inmunoterapia intravesical durante un periodo de uno a tres anos. La afectacion del musculo detrusor tiene implicaciones pronosticas y de tratamiento. En el caso de los tumores musculoinfiltrantes, la cirugia con quimioterapia neoadyuvante es el tratamiento estandar. En los tumores metastasicos la quimioterapia basada en cisplatino es el tratamiento de eleccion.

High-risk nonmuscle-invasive bladder cancer is a disease that includes a heterogeneous group of patients, for whom close follow-up is recommended due to the risk of progression to a muscle-invasive tumour. The treatment of choice for these tumours is transurethral resection of the bladder tumour followed by a programme of bacillus Calmette-Guerin instillations. There is a subgroup of patients who have a greater risk of progression and who benefit from early radical treatment.To identify which patient group with nonmuscle-invasive bladder cancer will benefit from early radical treatment.We performed a literature review to identify the risk factors for progression for these patients and thereby recommend a treatment that improves their survival rate.We identified the various prognostic factors associated with tumour progression: the persistence of T1 tumour in re-resection of the bladder tumour, the presence of carcinoma in situ, patients refractory to bacillus Calmette-Guerin treatment, patients older than 70 years, tumours larger than 3cm, the substaging of T1 tumours, the presence of lymphovascular invasion and the presence of a tumour in the prostatic urethra. Similarly, we comment on the advantages of radical versus conservative treatment, considering that the performance of an early cystectomy due to a high-risk noninvasive vesical tumour has a better cancer prognosis than those in which the operation is deferred until the progression.In this disease, it is important to individualise the patients to provide them personalized treatment. For patients with the previously mentioned characteristics, it is recommended that early cystectomy not be delayed.

Introduction Endoscopic inguinal lymphadenectomy is an evolution of laparoscopic surgery thanks to background in these techniques. This is a new technique and the indications in the field of penile tumors today are expanding. The technique aims at reducing the morbidity of the procedure without compromising the cancer control or reducing the template of the dissection. Material and methods We present the modified endoscopic inguinal lymphadenectomy in a 70-year-old male patient with penile melanoma and positive sentinel lymph node in left inguinal limb. Intraoperative data, pathology, post operatory evolution and oncological follow-up are described. Results Operative time was 120 min. Nine lymph nodes were retrieved and none of them showed positivity at pathology. There were no complications. The drain was kept for five days. After 12 months of follow up, no signs of disease progression were noted. Conclusion The endoscopic inguinal lymphadenectomy is feasible in clinical practice. New studies with a greater number of patients and long-term follow-up may confirm the oncological efficacy and possible lower morbidity of this new approach.

Resumen Introduccion La linfadenectomia inguinal endoscopica es una evolucion de la cirugia laparoscopica que resulta posible gracias a los conocimientos previos en este tipo de tecnicas. Se trata de una nueva tecnica y sus indicaciones en el campo de los tumores de pene estan ampliandose hoy en dia. La tecnica busca reducir la morbilidad del procedimiento sin comprometer el control oncologico ni reducir el area de reseccion. Material y metodos Presentamos la realizacion de linfadenectomia inguinal endoscopica modificada en un varon de 70 anos con diagnostico de melanoma de pene y ganglio centinela positivo en la region inguinal izquierda. Se colocaron 3 trocares de trabajo sobre un triangulo femoral previamente dibujado sobre la region inguinal izquierda del paciente. Se describen los datos intraoperatorios, anatomopatologicos, postoperatorios y de seguimiento oncologico. Resultados El tiempo operatorio fue de 120 min. Se obtuvieron 9 ganglios, siendo todos negativos en el estudio anatomopatologico. El drenaje fue retirado al quinto dia postoperatorio. No hubo complicaciones. Despues de 12 meses de seguimiento no hay signos de progresion de la enfermedad. Conclusion La linfadenectomia inguinal endoscopica es factible en la practica clinica. Nuevos estudios con mayor numero de pacientes y seguimiento a largo plazo pueden confirmar la eficacia y posible menor morbilidad de este nuevo abordaje.

Resumen El cancer de testiculo es el tumor mas frecuente en los varones entre los 15 y 34 anos de edad. El 95% procede de las celulas germinales del testiculo. Se clasifican en tumores germinales seminomatosos y no seminomatosos. Su tratamiento inicial es la orquiectomia, incluso en estadios diseminados. Son altamente sensibles a la quimioterapia y radioterapia. Su tasa de curacion es elevada, incluso cuando se diagnostican en fase avanzada. Por estos motivos, es muy importante distinguir diferentes grupos pronosticos que nos permiten individualizar la terapia. El objetivo consiste en administrar un tratamiento adecuado para intentar lograr la curacion incluso cuando se diagnostican en fase metastasica, con las minimas secuelas posibles. Es fundamental el tratamiento multidisciplinar, que incluya cirugia, radioterapia y quimioterapia, coordinadas y combinadas de manera adecuada para obtener optimos resultados.

This article presents a review of the different tests used for the evaluation and follow-up of urethral strictures. Because there is no consensus on how to assess urethral pathology, we reviewed each of the next follow-up tests: questionnaires, uroflowmetry, ultrasound, urethroscopy, urethrogram, CT scan and MRI, outlining their benefits and limitations in the diagnosis and follow-up of urethral stricture. Urethrogram and urethroscopy are the most commonly used tests, as they are those that give us more information on the evaluation of stenosis and for surgery planning. Questionnaires and uroflowmetry play a key role in the follow-up of these patients. Ultrasonography has high sensitivity and specificity for evaluating the spongiofibrosis, however it is not done routinely. The CT/MRI is recommended in the evaluation of pelvic trauma associated with fractures.

The aim of this study was to assess the health-related quality of life of patients with prostate cancer in advanced phases to obtain additional information on the patients' health. The growing interest in understanding the patient's perspective and the scarcity of prospective studies of this population motivated this research study.We present an observational study performed on 131 urology consultations, with a sample of 601 patients with locally advanced or metastatic prostate cancer, assessed during 2 visits: baseline and at 12 months. We collected demographic, clinical, quality-of-life (PROSQoLI and EuroQoL-5D-5L questionnaires) and anxiety/depression (HADS questionnaire) endpoints.The mean age (SD) was 73.8 (8.2) years, and 87.2% of the participants were retired or pensioners. Some 58.7% of the patients presented locally advanced prostate cancer. Urinary symptoms were the most common, decreasing significantly after one year (P.05). Urinary problems and fatigue were the most affected measures, and pain/discomfort was the dimension present in most patients (65.3%). According to the linear regression model, asthenia and pain were 2 of the factors most closely related to a poorer quality of life. The presence of anxiety/depression was low. Finally, the health condition as assessed by the clinician was more positive than when assessed by the patients.This study broadens the scarce information on the quality of life of the population with advanced prostate cancer, information of use for the clinical management of these patients.

Resumen Objetivo Valorar indirectamente el grado de adhesion de los medicos de Atencion Primaria (AP) a un protocolo de derivacion consensuado con Atencion Especializada (AE) sobre diez motivos de consulta urologica. Material y metodos Se analizaron todas las derivaciones al servicio de urologia llevadas a cabo durante un periodo de 19 meses por 135 medicos adscritos a 10 centros de AP (CAP). El urologo juzgo como “confome” o “no conforme al protocolo” la derivacion. Se compararon los porcentajes de adecuacion de las derivaciones desde cada CAP. Se exploraron las diferencias en la adecuacion de las derivaciones procedentes de cada CAP en funcion del problema de salud. La relacion entre el numero de derivaciones y el numero de canalizaciones adecuadas se exploro mediante un modelo de regresion lineal. Resultados El analisis tuvo lugar sobre 2841 derivaciones. El 57,2% de esas derivaciones se ajusto al protocolo. No se detectaron diferencias significativas en los porcentajes de derivaciones ‘conforme al protocolo’ en relacion a los CAP. Se detectaron diferencias significativas entre CAP en las derivaciones por colico nefritico e incontinencia urinaria. Se detecto una relacion entre el numero de pacientes remitidos y el numero de remisiones “no conforme al protocolo” (r2=0,86). Conclusiones La adecuacion al protocolo fue escasa. Algunos problemas de salud deberian de ser revisados a nivel local; la mayoria de los motivos de derivacion (de modo particular la microhematuria) deberian de revisarse en todos los CAP.

We report a case of a patient with a secondary injury of external iliac artery and vein in the L 4-L 5 laminectomy and discectomy course. An inmediatily vein suture and ilio-iliac by-pass with Dacron was made. In the postoperatory a yatrogenic lumbar ureter section was discovered and treated with renal autotransplantation. We review the options described in the literature in the management of these complex ureteral injuries.

Fabry disease (FD) is a rare X-linked genetic lysosomal storage disease caused by a deficiency of the enzyme α-galactosidase A, that produces accumulation of globotriaosylceramide. There is a multisystemic involvement, including renal, cardiac, eye, and nervous system manifestations.To perform a descriptive analysis of the ophthalmological manifestations in Mexican patients with FD.We studied 13 patients with clinical and biochemical diagnostic of FD.Cornea verticillata was found in 57% of men and 33% carriers.Cornea verticillata was the most common ocular manifestation in males and carriers of FD in Mexico.

Gingival fibromatosis can be present as an isolated form or be part of a genetic disease. The Zimmermann-Laband syndrome (ZLS) is a rare disorder inherited as an autosomal dominant fashion, clinically characterized by gingival fibromatosis, bulbous soft nose, thick floppy ears, nail dysplasia, joint hyperextensibility, hepatosplenomegaly, skeletal anomalies and occasional mental retardation. We studied a girl aged five years with clinical and radiological features of the ZLS, additionally she presented deafness not previously described in the ZLS, as only partial hearing loss was reported in some patients. The father presented some facial features suggestive of ZLS, nevertheless he did not have gingival fibromatosis or hypertrichosis. We suggest that this case supports that ZLS can be part a contiguous genes syndrome or be consequence ofa gene mutation with wide variable expression. The present report supports that ZLS has a wide clinical spectrum.

[corrected] To indirectly address the adequacy of referrals from general practitioners (GP) to specialized care taking into account a previously agreed protocol on ten urological topics.The study analyzed all referrals to the Urology department originated in 10 primary care centres (135 GPs involved) throughout a 19-month period. Adequacy of 2841 referrals was checked. The urologist judged the referral as compliant (adequate) or not compliant (inadequate) with the terms of the protocol. Compliance per primary care centres was compared. Also referral adequacy corrected per centre and clinical topic was compared. The relationship between "absolute number of referrals" and "adequate referrals" was tested using a linear regression model.57.2% of the referrals were inadequate. Overall, no significant differences were detected between primary care centres. Nevertheless significant differences between centres were evident in terms of referrals due to renal colic and female urinary incontinence. 70% (94/135) of the GPs complied with the protocol in, at least, 50% of the cases. A strong association between "absolute number of referrals" and "adequate referrals" was evident (r2=0.86).Overall compliance with the protocol was modest. While no significant differences between centres were detected in terms of adequacy of referrals certain conditions have to be locally revisited; most of the topics (particularly microhematuria) have to be revisited in every center.

We report a case of a patient with a secondary injury of external iliac artery and vein in the L4-L5 laminectomy and discectomy course. An immediately vein suture and ilio-iliac by-pass with Dacron was made. In the postoperative a iatrogenic lumbar ureter section was discovered and treated with renal autotransplantation. We review the options described in the literature in the management of these complex ureteral injuries.

To analyze the results of the first two years of application of the clinical pathway for transurethral resection (TUR) of bladder tumors at La Paz University Hospital.We developed a clinical pathway of 4 hospital stays (5 days) for TUR of the bladder that included the following: matrix-verification, treatments prescribed, verification of changes, patient information sheet and patient satisfaction questionnaire. The information for the evaluation of the results were obtained from the pathway records and data on the activities of the Urology services. To assess the results for efficiency in the use of resources, the mean duration of hospital stay of patients in the pathway were compared with that of a control group comprised of 50 randomly selected patients submitted to TUR of the bladder in 1997.From June 1998 to May 2000, 481 of the 494 (97.4%) treated patients entered the clinical pathway.In our experience, the clinical pathway for the urinary bladder is a useful instrument for developing the clinical management of this condition. It reduces the unwanted changes in patient care and hospital stay, carries a low incidence of complications and readmissions, and achieves a high degree of patient satisfaction.

Inverted papilloma of the urothelium accounts for 2.2% of urothelial neoplasms. Its oncologic significance is unclear; its potential for recurrence and/or progression is not well-known. Our experience from 1976 to 1999 is reviewed.From 1976 to 1999, 31 patients with urothelial inverted papilloma of the lower urinary tract have been treated in our service: 17 presented previous and/or synchronous association with urothelial carcinoma (group I) and 14 had primary inverted papilloma (group II). The recurrence and progression rates for each group were determined and compared. The overall recurrence and progression rates were also determined. Two patients (one from each group) were lost to follow-up. The remaining 29 patients had a mean follow-up of 51.3 months (range 3-125).12 patients (41.4%) showed recurrence in the form of bladder carcinoma; 10 from group I (10/16; 62.3%) and 2 from group II (2/13; 15.4%) (p0.05). Mean time to recurrence was 17.9 months (range 3-58). Disease free interval was higher in group II (p0.05). Progression to infiltrating tumor was observed in three patients; all three had associated superficial bladder carcinoma (group I). The mean time to progression was 30.7 months (range 18-38). No statistically significant differences were found in the percentage of progression between both groups.Inverted papilloma of the lower urinary tract showed a high incidence of association with urothelial carcinoma and a high recurrence rate, even in primary tumors. Therefore it should be considered a tumor of low grade malignancy that should be followed regularly.

To review the current status of superficial bladder cancer treatment with several immune response modifiers.A review of the advances in the treatment of superficial bladder cancer with BCG, interferon, interleukin-2, bropirimine and keyhole-limpet hemocyanin was performed.Treatment with BCG has been demonstrated to be superior to intravesical chemotherapy and other immune response modifiers in the trials reviewed. BCG therapy, however, carries a higher toxicity. Several trials have demonstrated that in low and medium risk patients, it is better to administer low BCG doses to reduce the toxicity. Furthermore, the trials confirm the utility of maintenance schedules with BCG.The Calmette-Guérin Bacillus is the most effective adjuvant treatment in superficial bladder cancer, especially in the high risk patients. The other immune response modifiers are an alternative to this treatment.

To analyze the results achieved with vacuum devices in the treatment of erectile dysfunction.A telephone survey was conducted on 150 patients undergoing treatment with a vacuum device. Of these, 89 responded; 79 of which were considered valid for the study. The duration and frequency of use, side effects and degree of patient and partner satisfaction were analyzed. Mean follow-up was 59.5 months.There were 14 dropouts early in the course of treatment. The remaining 65 patients used the device for a mean duration of 34.6 months, 3.7 times monthly. 63.3% of the patients achieved erection in more than half of the attempts. The most frequent side effects were pain (27 patients) and ecchymosis (7 patients). Forty-eight patients discontinued treatment at 10.8 months' mean follow-up. The most common causes for discontinuing treatment were lack of efficacy, refusal of the partner and pain.Treatment of erectile dysfunction with the vacuum constriction device should be utilized as an alternative to intracavernosal drug-induced erection therapy when oral therapy fails or is contraindicated. A male with a stable partner and impotence arising from venous leakage or mild cavernous artery insufficiency is the ideal candidate.