Biallelic PMS2 mutations and a distinctive childhood cancer syndrome.

Biallelic mutations in PMS2, a gene usually associated in heterozygous form with hereditary nonpolyposis colorectal cancer (HNPCC), results in a recently described childhood cancer syndrome. The tumor spectrum encompasses atypical brain cancers, hematologic malignancies, and colonic polyposis and cancer. Cutaneous stigmata resembling café-au-lait macules with more diffuse margins are frequently seen.

Guide wire-assisted urethral dilation in pediatric urology: experience of a single surgeon.

Introduction: A simple technique to dilate urethral stricture using guide wire and sheath dilator has been described in pediatric urology. The aim of this study was to report the long-term outcome of the children who underwent dilation of the urethral stricture using guide wire and sheath dilator.

Materials And Methods: From 1999 to 2004, a total of 52 children with documented urethral stricture were managed by urethral dilation using guide wire.

Autoaugmentation gastrocystoplasty: further studies of the sheep model.

Objective: To report our experience with autoaugmentation gastrocystoplasty (AAGC, reported to result in an inconsistent augmentation effect in children) in a sheep model, specifically addressing issues of surgical techniques and postoperative bladder drainage that may affect the augmentation result, as many factors have been implicated in the poor outcome.

Materials And Methods: Ten 6-month-old male lambs had a suprapubic catheter placed by an open laparotomy. Intraoperative urodynamics were evaluated before and after detrusorotomy for autoaugmentation and after completing AAGC.

Primary megaureter: results of surgical treatment.

Background: The aim of this study was to assess the clinical and radiological outcome after surgical treatment for primary -megaureter.

Methods: A retrospective analysis of 16 patients who had reimplantation of 17 primary megaureters between January 1997 and April 2001 was performed. Patients who had additional urinary tract pathology were not included in this study.

Congenital posterior urethral obstruction: re-do fulguration.

In patients with congenital posterior urethral obstruction, transurethral fulguration (TUF) is usually the treatment of choice if the patient is in a stable condition. However, few papers have described the proportion of patients who need further fulguration. We reviewed 83 boys with a congenital obstructive posterior urethral membrane (COPUM) to assess the role of re-do fulguration, as judged by prospective video recordings.