Mutation rates at Y chromosome specific microsatellites.

A collaborative work was carried out by the Spanish and Portuguese ISFG Working Group (GEP-ISFG) to estimate Y-STR mutation rates. Seventeen Y chromosome STR loci (DYS19, DYS385, DYS389I and II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS460, DYS461, DYS635 [GATA C4], GATA H4, and GATA A10) were analyzed in a sample of 3,026 father/son pairs. Among 27,029 allele transfers, 54 mutations were observed, with an overall mutation rate across the 17 loci of 1.998 x 10(-3) (95% CI, 1.501 x 10(-3) to 2.606 x 10(-3)). With just one exception, all of the mutations were single-step, and they were observed only once per gametogenesis. Repeat gains were more frequent than losses, longer alleles were found to be more mutable, and the mutation rate seemed to increase with the father's age. Hum Mutat 26(6), 520-528, 2005. (c) 2005 Wiley-Liss, Inc.

Uses and limitations of two molecular cytogenetic techniques for the study of arrested embryos obtained through assisted reproduction technology

We studied chromosomal abnormalities in arrested embryos produced by assisted reproductive technology with fluorescence in situ hybridization (FISH) and comparative genomic hybridization (CGH) in order to determine the best technique for evaluating chromosomal aneusomies to be implemented in different situations. We examined individual blastomeres from arrested embryos by FISH and arrested whole embryos by CGH. All of the 10 FISH-analyzed embryos gave results, while only 7 of the 30 embryos analyzed by CGH were usable. Fifteen of the 17 embryos were chromosomally abnormal. CGH provided more accurate data for arrested embryos; however, FISH is the technique of choice for screening in preimplantation genetic diagnosis, because the results can be obtained within a day, while the embryos are still in culture.

Primary endoscopic treatment of ureteric calculi. A review of 378 cases.

AIM OF THE STUDY: In the post-ESWL period, ureteroscopy represented the solution giving a second choice in the treatment of ureteral calculi in case of failure of extracorporeal lithotripsy. The aim of this study is to review a wide series of ureteral stones in which ureteroscopy combined with endoscopic lithotripsy can be chosen as the first approach for the treatment of ureteral calculi. METHODS: Between January 1994 and September 1997, 378 patients underwent ureteroscopy and endoscopic lithotripsy for ureteral stones with a miniscope associated with either a pneumatic or electropneumatic lithotriptor. Three different miniscopes were used: Olympus (8 Fr), Wolf (7 Fr) and Circon Acmi (7.7 Fr). 238 patients were male and 140 were female. The stones were localized in the upper tract of the ureter in 62 cases (16.4%), 96 (25.3%) in the mid ureter and 220 (58. 3%) in the lower ureter. RESULTS: A complete stone fragmentation with spontaneous expulsion of the fragments occurred in 354 patients (93.6%). In 22 patients (5.8%) the stones were accidentally pushed up and successfully underwent ESWL. In 38 patients (10%) the fragments were completely removed by basket. A single J polyethylene catheter was placed in 21 (5.5%) and a JJ stent in 147 patients (38. 8%). The operative time ranged from 10 to 60 min, with an average time span of 32. In 22 cases (5.8%) an iterative ureteroscopy for stenosis or incomplete fragmentation was needed. Five cases (1.3%) of ureteral perforation were successfully treated by JJ stent, and only 1 case of ureteral avulsion (upper ureter) was treated by open surgery. In the attempt of overcoming an ureteral stenosis, we had 1 case (0.2%) of ureteral reimplantation. One patient (0.2%) underwent ureterolithotomy for an extremely narrow stenosis just before the ureteropelvic junction. No relevant complication was recorded in the postoperative period. Patients were dismissed after 1- 4 days (average 1.9). Up until now, no case of postoperative ureteral stricture has been observed, although we were not able to carry out a specific follow-up in all our patients. CONCLUSIONS: Ureteroscopy with miniscopes has a high success rate (93.6%) with low morbidity and can be given as a primary approach in the management of ureteral calculi. In the lumbar ureter (especially in women) this technique can represent a good alternative to ESWL in the treatment of obstructing stones (which need stenting) or when the patient asks for a 'one-shot' treatment.

Laparoscopic tumorectomy for renal cell carcinoma in a HIV-positive patient.

We report on a HIV-positive patient in whom laparoscopic nephron-sparing surgery has been performed. A 47-year-old white male referred for evaluation and treatment of an asymptomatic, serendipitously discovered renal mass. The patient underwent a laparoscopic tumorectomy; indications, surgical technique and rationale are described in detail.

Retroperitoneoscopic treatment of ureteropelvic junction obstruction.

PURPOSE: To demonstrate feasibility and safety of retroperitoneoscopic treatment of ureteropelvic junction obstruction. MATERIALS AND METHODS: 11 patients with symptomatic ureteropelvic junction obstruction were selected for retroperitoneoscopic pyeloplasty. Operative time ranged between 2 h 30 min and 4 h (mean 3 h 10 min); in 5 cases we had to convert to open surgery and an open pyeloplasty was performed through a minimal (6 cm) lombotomic incision. RESULTS: Follow-up IVPs were performed in all patients approximately 2-3 weeks after stent removal. In all patients, a reduction in the grade of hydronephrosis was observed. Significant improvement was noticed in 9 patients; in 2 patients a moderate improvement was observed. CONCLUSIONS: Our experience with retroperitoneoscopic treatment of ureteropelvic junction obstruction demonstrates that also with this approach it is possible to perform reconstructive procedures, with minimal complications. Technical refinements will progressively reduce the conversion rate to open surgery, even if done through minilaparotomy.

Videoendoscopic retroperitoneal cutaneous ureterostomy.

Since January 1993, 10 patients with bilateral ureteral obstruction due to advanced pelvic cancers underwent videoendosurgical cutaneous ureterostomy. Five patients had prostate cancer, three had uterine cancer, and only two had bladder cancer. In five cases a bilateral laparoscopic transperitoneal procedure (LCU) was performed. In five cases a retroperitoneal laparoscopic technique (RLCU) was adopted, and only in one out of these five cases was the procedure done bilaterally. All the procedures were done under general anesthesia. The procedure was accomplished in all the cases without any intraoperative complication. Monolateral retroperitoneal laparoscopic cutaneous ureterostomy (RLCU) required 35-42 min, including the dilation time. Bilateral RLCU required extra time for changing the position of the patient. Postoperative pain was rather insignificant and did not require additional medication. Postdiversion hospital stay was 3-6 days depending on the general condition of the patient. The mean follow-up was 14.4 months.

Heat-expansible permanent intraurethral stents for benign prostatic hyperplasia and urethral strictures.

We report our experience with the insertion of a new thermoexpansible permanent intraurethral stent, the Memotherm. We treated 49 patients, 25 with benign prostic hyperplasia (BPH), 21 with recurrent urethral strictures (2 cervicourethral and 18 bulbar and 1 of a vescicourethral anastomosis after radical prostatectomy), and 3 with sphincterotomies (2 for dyssynergia and 1 with incontinence plus stenosis). The patients' ages ranged from 24 to 84 (mean 59.7) years. In all patients, stent insertion was achieved without any operative problem. In two patients, stents were removed (one in the BPH group and one in the urethral stricture group), and at long-term follow-up, we have seen two patients with severe mucosal hyperplasia.

Laparoscopically assisted transvaginal radical cystectomy.

Herein we describe 5 cases of anterior pelvic exenteration in females through a combined transvaginal and laparoscopic approach for bladder cancer. In 4 cases hysterectomy and bilateral ovariectomy were performed. As far as urinary diversion is concerned, a bilateral cutaneous ureterostomy was performed in the 1st case, and in the remaining 4 an ileal conduit was accomplished through a minilaparotomy at the stoma site. The surgical specimen was withdrawn 'en bloc' transvaginally in all cases except 1, in whom vaginal atrophy forced us to perform a midline minilaparotomy. Total operative time ranged between 6 and 9 h, and 4 patients were discharged after 7-11 days with no complications. One patient was discharged only after 18 days due to obesity and diabetic problems. A larger series is needed to confirm the advantages of the combined transvaginal and videolaparoscopic approach for anterior pelvic exenteration as compared to the conventional procedure, with special regard given to the oncological outcome. Our initial experience is surely encouraging.

Videoendoscopic cutaneous ureterostomy for palliative urinary diversion in advanced pelvic cancer.

Since January 1993, 9 patients with bilateral ureteral obstruction due to advanced pelvic cancers underwent videoendosurgical cutaneous ureterostomy. Five patients had prostate cancer, 3 had uterine cancer and only 1 bladder cancer. In 5 cases a bilateral laparoscopic transperitoneal procedure was performed. In 4 cases a retroperitoneal laparoscopic technique was adopted and only in 1 out of these 4 cases the procedure was done bilaterally. All the procedures were done under general anesthesia. The procedure was accomplished in all the cases without any intraoperative complication; the operative time ranged between 35 and 130 min. Postoperative pain was rather insignificant and did not require additional medication. Postdiversion hospital stay ranged from 3 to 11 days according to the general condition of the patients. The mean follow-up is 10.8 months. In conclusion, retroperitoneal laparoscopic cutaneous ureterostomy seems to be a reasonable alternative to percutaneous nephrostomy in case of bilateral ureteral obstruction due to advanced prostate or uterine cancer, provided that the clinical condition of the patient allows general anesthesia.

Laparoscopic bilateral cutaneous ureterostomy for palliation of ureteral obstruction caused by advanced pelvic cancer.

In cases of advanced urologic malignancies with impairment of renal function secondary to tumor infiltration in high-risk patients, the possibility of performing a laparoscopic instead of an open cutaneous ureterostomy should be considered. We performed laparoscopic cutaneous ureterostomy in three male patients, two with prostate cancer and one with bladder cancer, and in one female patient with uterine cancer. Five operative ports were used. The ureters were identified, dissected, severed, and passed through two 10-mm ports; and cutaneous ureterostomies were performed in the usual manner. The mean operative time was 96 minutes. Patients were discharged after 5 to 7 (mean 6) days. The two patients with prostate cancer are now in treatment with GnRH analogues with a follow-up of 3 and 7 months. The patient with bladder cancer underwent palliative radiotherapy and is well after 6 months. The patient with uterine cancer has stable disease after 3 months. Laparoscopic urinary diversion causes less discomfort and has a low complication rate and may be the first-choice diversion in patients with advanced cancer who have a life expectancy longer than 6 months.

Prostate cancer detection in BPH patients.

The first problem to be solved in the evaluation of BPH patients is surely the differential diagnosis with prostate carcinoma. We evaluated the impact of a combined approach for prostate cancer detection using DRE, PSA, TRUS and ultrasound-guided biopsy, determining the sensitivity and specificity of different tools, in order to obtain a diagnostic algorithm to be used for pretreatment differential diagnosis between prostate cancer and BPH.

Does transurethral thermotherapy induce a long-term alpha blockade? An immunohistochemical study.

10 patients underwent transurethral thermotherapy and after few days were submitted to open prostatectomy. The surgical specimens were compared to those of 2 other patients used as controls. Pathological specimens were evaluated using histological and immunohistochemical stains. Microscopic examination showed a well-preserved urethra and microabscesses, epithelial necrosis and vasculitis in the prostatic tissue at a depth of 0.5-2 cm from the urethral lumen. Immunohistochemical stains showed the damage and disappearance of nervous fibers.