OBJECTIVES: To assess and characterizemutations in the vhl gene in tumor tissue samples from30 patients undergoing surgery for renal cell carcinomain our department.METHODS: Descriptive, observational and analyticalstudy of 30 patients undergoing surgery for RCC, analyzingthe vhl gene sequence in tumor tissue, and usinghealthy renal tissue from the same patients as controls.Tissues were processed by DNA extraction, PCR amplificationof the three exons that conform the gene, and ulterior automatic sequence analysis of the amplifiedexons between intronic primers previously designed.The sequence is compared with the correspondingexons included in the GeneBank. Alterations werechecked by backwards sequence analysis.RESULTS: 9 mutations (30%) were found in the tumoralsamples analyzed. 7 of them were punctual (one ofthem intronic); the other two were deletions. Mutationswere distributed among the three exons: 3 in exon 1, 4in exon 2, 1 in exon 3 and 1 intronic. One of thesamples showed 2 mutations. Control tissue was free ofmutations.CONCLUSIONS: Sporadic RCC shows mutations inthe vhl gene which mainly appear in the clear cellsubtype. Such alterations result in severe disturbancesin the protein, disturbing its tumor suppressing function.
OBJECTIVES: To evaluate the oncologicaland functional results of radical prostatectomy as monotherapy for stage T3a prostate cancer.METHODS: We include our initial and consecutiveseries of 83 patients with prostate cancer (studied bydigital rectal examination and transrectal ultrasound)who had not received neoadjuvant treatment undergoing radical prostatectomy from July 1988 toDecember 2003. No patient received adjuvant treatment, and deferred intermittent androgen blockade wasused when patients with biochemical progression exceededa PSA of 4ng/ml. UpRESULTS: After a mean follow-up of 68.7 (1-139)months: overall and specific survival 97.6% and 100%respectively; biochemical progression 36.1% (22 pT2(0%),41 p T3a (36.6%),13 pT3b (61.5%) and 7 pT4a(100%)).Positive margins 61.4% (41.2% unifocal with a progression rate of 23.8%). 96.4% achieved continenceand 39.6% recovered potency. Among 30 patientswith biochemical progression,19 required treatmentwith deferred intermittent androgen blockade (one cyclein 10 patients, two cycles in six, and three cycles in theremaining three).CONCLUSIONS: Our results support the indication ofradical prostatectomy as single therapy without neoadjuvant treatment as a curative indication for locallyadvanced prostate cancer (T3 a) whenever completeexcision is expected: Gleason 7 T3 tumors withoutdiffuse extension on ultrasound. 26.5% of these T3apatients were overstaged and resulted to be organ-confined(pT2). Ten-year probability of biochemical progressionfree survival was 100% for pT2 and 81.9% for thelower risk pT3a (well or moderately-differentiated withnegative surgical margins or unifocal). Functional resultsfor T3a were similar to the ones of the clinically-localized(T2) series for both retropubic and perineal approaches. 30 patients had developed biochemical progression atthe time of study closure and were free of hormonaltreatment during 81.6% of the total follow-up time withour deferred intermittent androgen blockade treatmentline, so that we consider we can offer it as the firsttreatment option for progression providing a maximalquality of life and allowing ulterior second line therapies.Patients who mainly benefited were those on progressionwho have recovered sexual function: 41.7% of potentpatients after radical prostatectomy recovered potencyagain over the second phase (no treatment) of thedeferred intermittent androgen blockade.
OBJECTIVES: To assess the clinicalusefulness of bone-specific alkaline phosphatase (B-AKP)to detect or rule out bone metastases in patients withprostate cancer.METHODS: Between November 2001 and July 2003111 patients with the diagnosis of prostate adenocarcinomawere evaluated to rule out bone metastases.Bone metastases were studied after clinical suspicion,PSA value higher than 10ng/ml, or Gleason scorehigher than 7. Bone scan was used as detection test.Patients were tested for serum B-AKP with a referencevalue equal or higher than 30ng/ml. The sensitivity,specificity, positive predictive value and negative predictivevalue of B-AKP were measured in comparison to bonescan as the gold standard.RESULTS: 111 patients with the diagnosis of prostateadenocarcinoma were evaluated to rule out bonemetastases. Mean age was 69.70 years (50-83years). Average B-AKP value was 29.28 ng/ml (9-56ng/ml). Bone scan was positive in 31 patients.Among these 31, 26 patients had positive B-AKP andfive negative. AP patients had negative bone scan.From this AP patients, B-AKP was positive in 17 andnegative in 63. The sensitivity of the test was 83.8%.The specificity was 78%. Positive predictive value was60% and negative predictive value was 92%.CONCLUSIONS: Bone alkaline phosphatase is a greatlyuseful test for the study of patients with prostate cancerin whom bone metastases are suspected either to confirmthem or to rule out their presence.
OBJECTIVES: Kidney transplantation (KT)is the treatment of choice for patients with end stage renal disease(ESRD). 6% of the patients develop ESRD due to congenital or acquired lower urinary tract anomalies, which sometimes imply the need of an additional surgical procedure to make the patient suitable for transplantation. METHODS: We review 6 cases of KT receptors (three of them pediatric) to whom some kind of reconstruction of the lower urinary tract with bowel was performed over the last 10 years. RESULTS: Most frequent etiologies: neurogenic bladder (3), small and contracted bladder after genitourinary tuberculosis, urethral valves, and transitional cell carcinoma with radical cystoprostatectomy and bilateral nephrectomy. Surgical techniques: Bladder augmentation with colon (3), Bricker`s defunctionalized ileal loop (2), and Goodwin’s ileal bladder augmentation; all of them were performed between 8 and 147 months before transplant. Complications: UTI in 2 patients. Recurrent stenosis of the ileal loop in one patient who required endoscopic balloon dilation and stent placement in the stenotic segment with poor results and finally requiring loop reconstruction. Another patient developed stenosisof the ureteroneocystostomy anastomosis and reimplant was performed. All of them had good outcome. One case had a subacute kidney rejection episode with good response to steroids. No graft was lost. Current serum creatinine values are between 0.69 and 2.6. CONCLUSIONS: The use of bowel in patients with pathologic bladders is as safe method to allow these patients to receive a kidney transplant when bladder rehabilitation has not been possible with conservative measures.
OBJECTIVES: To perform a review andupdate of the antiphospholipid syndrome summarizingits urological presentations.METHODS: A complete bibliographic search was performedthrough PubMed MEDLINE and articles werereviewed with special attention to those bibliographic references about urological presentations. We documentthe unique and unpublished case of a patient withneurogenic bladder secondary to antiphospholipidsyndrome.RESULTS/CONCLUSIONS: The antiphospholipidsyndrome is an acquired autoimmune systemic diseasegenerating a permanent hypercoagulability status withrecurrent multiorgan thrombotic events due to circulatingantiphospholipid antibodies. It may be secondary to aheterogeneous group of diseases (mainly lupus) anddrugs, or primary if it appears isolated without anydemonstrable systemic disease or concomitant medication.It is mainly characterized by venous or arterialrecurrent thrombosis, recurrent abortion, thrombocytopenia,and circulating antiphospholipid auto-antibodies.Treatment with anticoagulants and correction of thehypercoagulable status contributing factors, arterial orvenous thrombosis, and vascular risk aim to avoid newthrombosis episodes. Genitourynary system may beaffected in any of its parts, generally by arterial orvenous thrombosis. Kidney is the most frequently affectedorgan, in addition to transplanted kidney grafts,adrenal glands, bladder and testicles. There is a relationshipbetween antiphospholipid syndrome and infertility.For the first time, we describe bladder involvementpresenting as hyperreflexic neurogenic bladder withdetrusor-sphincter dyssynergia after spontaneous spinalcord thrombosis in an asymptomatic adolescent with primaryantiphospholipid syndrome which was unknownbefore.
OBJECTIVES: To evaluate the usefulnessof PN as urinary diversion in the treatment of urinarystones by ESWL.METHODS: Between April 1996 and June 20039554 ESWL were performed at the lithiasis unit of theFundación Jiménez Díaz; 0.91% required previousinsertion of a PN. We performed a retrospectiveanalysis of the 49 patients with the diagnosis of upperurinary tract stones who require treatment by ESWLassociated with PN. Indications for PN were: ureteralobstruction by fragments 6%, treatment of residualstones after percutaneous nephrolithectomy 6%, ureteralobstruction by a calcified double J stent 5%, urinary sepsis 75%, and obstructive anuria in a solitary kidney 8%.RESULTS: Overall, 87 sessions were performed in 49patients. Number of shock waves 3996, Kv 7.69.Results where comparable in terms of stone size andcomposition. 57% of the patients were stone-free afterone session,24% after 2, and 19% required more than2 sessions. There were two failures requiring surgery.CONCLUSIONS: Although in-situ ESWL is the treatmentof choice for renoureteral lithiasis, the PN is a complementaryprocedure when ureteral obstruction requires treatment;it is non invasive and may be successfully associated toESWL.
OBJECTIVES: We report three cases ofbladder hemangioma.METHODS: Three cases of cavernous hemangioma ofthe bladder with pathologic confirmation treated byendoscopical resection.RESULTS: There is no evidence of recurrence in eitherpatient after resection.CONCLUSIONS: The endoscopical treatment of smallbladder hemangiomas is an effective treatment.
OBJECTIVES: To establish the role of CTscan as a reliable and effective method in the diagnosisof renal cell carcinoma (RCC) and to report theexperience with this radiological test at the ManuelFajardo Hospital.METHODS: 29 patients with the diagnosis of RCCwho underwent CT scan during the period betweenJanuary 1992 and December 2002 were evaluated.All patients were preoperatively classified as stages I toIV by CT scan. Tumor stage was confirmed by surgicalfindings and pathology report, and matched withpreoperative CT scan evaluation in all cases.RESULTS: 29 patients with the diagnosis of RCC weretreated, 65.5% were males and 34.5% females between48 and 73 years of age. In 100% of the tumors wereconfirmed by ultrasound (US) and CT scan, and theirlimits were well defined. CT scan detected regionallymph nodes in 3.4% of the patients, distant lungmetastases in two patients (6.8%) and bone metastasesin one (3.4%). Preoperative study showed a tumor limitedwithin the kidney in 72.3% of the patients, not exceedingGerota’s fascia in 17.2%, and extending outsideGerota’s fascia in 10.3%. All patients underwent radicalnephrectomy through an anterior approach and CTscan precision was confirmed, being quite similar tothat of the surgical procedure.CONCLUSIONS: CT scan with or without contrast isthe most precise method of diagnostic confirmation andstaging currently available, achieving 100 percent ofthe diagnosis in comparison with other diagnosticmodalities.
OBJECTIVES: Vasectomy is a low morbidity and high efficacy surgical method. A small percentage of cases may have paternity after surgery as a complication. METHODS: We reviewed all patients who underwent vasectomy at our department from 1995 to 1999 (n =1492), defining technical failure as pregnancy or no disap-pearance of spermatozoids in the follow-up sperm analysis. RESULTS: We found 2 cases; one of them did not have a negative sperm test after three months, the other one’s wife became pregnant after previous azoospermia. Both patients showed granulomas in the pathologic report after a second operation.CONCLUSIONS: Vasectomy is a surgical technique that may have a failure rate close to 2%. Paternity after the operation may appear even after several years. Several authors report the existence of granulomas in those cases in which spontaneous recanalization appears. In our series it was a constant.
OBJECTIVES: To describe the presenting signsof multilocular cystic nephroma (MCN) in various imagingtests.METHODS: We report a new case of MCN and describe theradiological characteristics of this neoplasia on intravenousurography (IVU), pyelography , CT scan and MRI.RESULTS: CT scan and MRI findings are highly suggestive ofmultilocular cystic nephroma.CONCLUSIONS: Various radiological tests may allow us toestablish a working diagnosis for this kind of neoplasia, butCT scan and MRI are the main ones.
OBJECTIVES: To report a very unfrequent case of penile hematoma secondary to rupture of the superficial dorsal vein of the penis during intercourse. METHODS: 35-year-old patient presenting at the emergency department with a half moon shape hematoma in the dorsal part of the penis, not much painful, developed when initiating intercourse that we believe was a rupture of the superficial dorsal vein of the penis. RESULTS: In spite of the few cases of rupture of the superficial dorsal vein of the penis described, and after differential diagnosis with other causes of acute penis, conservative attitude with anti-inflammatory drugs and compressive bandage was undertaken. CONCLUSIONS: The rupture of the superficial dorsal vein of the penis is an unfrequent pathology which should be taken into differential diagnosis in a patient consulting with acute penile edema, the attitude is conservative with complete recovery without sequel.
OBJECTIVES: To report the case of a female patient with ultrasound diagnosis of great left retroperitoneal hematoma admitted to the hospital for diagnostic workup and treatment. METHODS: 39-year-old patient presenting with intense epigastric pain irradiated to both flanks. Hematuria was no present. CT scan and arteriography led to the diagnosis o angiomyolipoma with arteriovenous fistula and subcapsularhematoma. Selective embolization was carried out.CONCLUSIONS: Hamartomas account for 3% of kidneytumors in adults; they are composed of 3 mesodermal tissues, including blood vessels. The lack of elastic membrane in their arteries favours aneurysm development.
OBJECTIVES: To report the clinical case of amale with acute onset right flank pain and significantdeterioration of his general status.METHODS: 40-year-old male patient with acute onset of flankpain, progressive worsening, and fever up to 40ºC. Bloodanalysis (hemogram, coagulation tests, and serum ions), urineanalysis, and abdominal x-rays, ultrasound and CT scan wereperformed. After the diagnosis of segmental renal infarctiontreatment with low molecular weight heparin was started.RESULTS: Patient improved clinically and was discharged fromhospital 10 days later and received final discharge asoutpatient after 6 -month follow-up visit.CONCLUSIONS: Renal infarction should be taken intoconsideration in the differential diagnosis of acute flank pain,when more frequent causes as renal colic or inflammatory-infectious diseases are ruled out, mainly in patients withcardiovascular diseases because the most frequent cause isembolism
OBJECTIVES: To report the case of a 7-year-old patient with high flow priapism solved with conservative treat-ment. METHODS: We performed history and physical examination, complementary tests including general blood tests (serum ions, hemogram and coagulation tests), peripheral blood smear, Doppler ultrasound and selective arteriography which led to the diagnosis of high flow priapism. Due to the absence of arteriovenous fistula conservative treatment was chosen.RESULTS: Patient improved clinically after five days, with peni-le detumescence and spontaneous erections were preserved. CONCLUSIONS: Conservative treatment is a valid option in patients with arterial priapism, mainly in those cases in whom performing embolization of a small fistula seen on arterio-graphy is not possible or when such AV communication is not demonstrated.
OBJETIVES: In select female patients,bladder reconstruction following cystectomy will providea better quality of life and self-image. We reviewed ourresults with ileocolonic orthotopic neobladders in femalepatients undergoing cystectomy for bladder cancer.Impact of pathologic stage on disease outcome, urinarycontinence results and surgical technique are described.Because of the relative paucity in the number of femaleneobladders performed, reporting of our results appearwarranted.METHODS: Radical cystectomy with ileocolonic neobladder was performed in 22 consecutive women withbladder cancer over a five year period. Our techniquespares the urethral support mechanism and innervationof the rhabdosphincter. Patients were selected based onrenal function, ability to perform self-catheterization,organ confined disease and evidence of a disease freeurethra, trigone and bladder neck. A retrospective review of the functional and cancer outcome wasconductedRESULTS: Postoperatively total diurnal urinary continencewas achieved by 86% of the patients. Seventy-threepercent of the patients had diurnal and nocturnalcontinence. Hypercontinence developed in 13.6% ofpatients. Only three patients developed advancedmetastatic disease. None of the patients had evidenceof local pelvic recurrence. The pathologic stage in thethree patients that progressed were pT3a, pT3b, andpT2.CONCLUSIONS: Orthotopic neobladder substitution infemale patients with bladder cancer is an alternative toa non-continent diversion. We report oncologic outcomessimilar to the traditional anterior pelvic exenteration andnon-continent urinary diversion. Surgical outcomes andcomplications are comparable with a significantimprovement in the quality of life.