A duplication in a patient with 46,XX ovo-testicular disorder of sex development refines the SOX9 testis-specific regulatory region to 24 kb.

A custom CGH microarray that covers the SOX9 regulatory region. Log2 ratio scatterplot showing individual data points. Blue box highlights copy number gain with 3' breakpoint region magnified.

Clinical algorithms for the diagnosis and management of urological leaks following pelvic exenteration.

BACKGROUND: Urine leak following pelvic exenteration for locally advanced pelvic malignancy is a major complication leading to increased mortality, morbidity and length of stay. We reviewed our experience and developed a diagnostic and management algorithm for urine leaks in this patient population. METHODS: Consecutive patients who underwent en bloc cystectomy and conduit formation as part of pelvic exenteration at a single quaternary referral centre from 1995 to 2012 were reviewed. Patients with urine leak were identified. Medical records were reviewed to extract data on diagnosis and management and a suggested clinical algorithm was developed. RESULTS: Of 325 exenterations, there were 102 conduits, of which 15 patients (15%) developed a conduit related urine leak. Most (14/15) patients were symptomatic. Diagnosis was made by drain creatinine studies (12/15) and/or imaging (15/15). Management comprised of conservative management, radiologic urinary diversion, early surgical revision and late surgical revision in 3, 11, 2 and 1 patients respectively. Important lessons from our 17 year experience include a high index of suspicion in a patient who is persistently septic despite appropriate treatment, the importance of regular drain creatinine studies, CT (computer tomography) with delayed images (CT intravenous pyelogram) when performing a CT for investigation of sepsis and early aggressive management with radiologic urinary diversion to facilitate early healing. CONCLUSION: Urine leak after pelvic exenteration is a complex problem. Conservative management usually fails and early diagnosis and intervention is the key. It is hoped that our algorithms will facilitate diagnosis and subsequent management of this group of patients.

Influence of ureteric anastomosis technique on urological complications after kidney transplantation.

The best technique for anastomosis of the donor ureter remains unresolved and an individual surgeon's preferred technique is likely to be based on training background. This retrospective analysis compares three ureteroneocystostomy techniques in 204 consecutive transplants with an overall ureteric complication rate of 7.3%. Ureteric complications after kidney transplantation present early, are more common when using deceased donor kidneys, and, require complex reconstructive surgery to resolve. Three significant and related findings have been demonstrated with a common theme related to the length of the transplanted ureter, and not, the debate over extravesical versus intravesical techniques.

Urological leaks after pelvic exenterations comparing formation of colonic and ileal conduits.

BACKGROUND: The aim of this study was to assess possible risk factors for urinary leakage of a newly formed urinary conduit after a partial or total pelvic exenteration. METHODS: An analysis was conducted from prospectively collected data of patients who underwent a pelvic exenteration with conduit formation for advanced and recurrent pelvic cancer. RESULTS: Of 232 patients undergoing a pelvic exenteration, 74 (32%) had a conduit formed. Of these, 47 (64%) had an ileal conduit compared with 27 (36%) a colonic conduit. Twelve (16%) patients developed a leak, of which nine occurred within the first month. Factors associated with a conduit leak included involvement of R2 surgical margins (43%), the magnitude of the exenteration and a current cardiovascular medical history (27%). Leaks were not found to be associated with either radiotherapy or chemotherapy. The 30-day leak rate for ileal conduits was 17% (8/47) and 4% (1/27) for colonic conduits with enterocutaneous fistula only occurring in the ileal conduit group (2/47). Fistula, drained collections and sepsis occurred in 40% of ileal and 19% of colonic conduits (p < 0.01). Patients with a conduit leak had a longer length of stay (59 versus 23 days, p < 0.001). CONCLUSIONS: Urine leaks after conduit formation in association with exenterations are relatively common with a prolonged length of hospital stay. Positive surgical margins and exenterations involving all four quadrants of the pelvis were associated with higher leak rates. There was no evidence of a difference between ileal and colonic conduits and number of leaks. However colonic conduits had less total complications including sepsis, leak and pelvic collections with comparatively no complications of a small bowel fistula.