Urinary voiding dysfunction in childhood, manifesting as incontinence, dysuria, and urinary frequency, is a common condition. Urofacial syndrome (UFS) is a rare autosomal recessive disease characterized by facial grimacing when attempting to smile and failure of the urinary bladder to void completely despite a lack of anatomical bladder outflow obstruction or overt neurological damage. UFS individuals often have reflux of infected urine from the bladder to the upper renal tract, with a risk of kidney damage and renal failure. Whole-genome SNP mapping in one affected individual defined an autozygous region of 16 Mb on chromosome 10q23-q24, within which a 10 kb deletion encompassing exons 8 and 9 of HPSE2 was identified. Homozygous exonic deletions, nonsense mutations, and frameshift mutations in five further unrelated families confirmed HPSE2 as the causative gene for UFS. Mutations were not identified in four additional UFS patients, indicating genetic heterogeneity. We show that HPSE2 is expressed in the fetal and adult central nervous system, where it might be implicated in controlling facial expression and urinary voiding, and also in bladder smooth muscle, consistent with a role in renal tract morphology and function. Our findings have broader implications for understanding the genetic basis of lower renal tract malformations and voiding dysfunction.

The aim of the study was to assess the preoperative and intraoperative potential risk factors for infectious complications after percutaneous nephrolithotomy (PCNL). A total of 303 patients who underwent PCNL for renal stones were included in the recent study. A detailed history including past renal surgery, nephrostomy insertion and recurrent urinary infection were obtained from all patients. Preoperative urine culture, renal pelvic urine culture and stone culture were obtained from all patients. The intraoperative data were prospectively noted. All patients were followed up postoperatively for signs of systemic inflammatory response syndrome (SIRS) and sepsis. In 83 (27.4%) of the patients, SIRS was observed and of these patients 23 (7.6%) were diagnosed as sepsis. Escherichia coli was the most common organism detected in cultures, followed by Pseudomonas aeruginosa, Enterococcus and Klebsiella spp. in all patients. By multivariate logistic regression analysis, presence of infection stone, stone burden and recurrent urinary tract infection were associated with both SIRS and sepsis development. Presence of infection stone, stone burden ≥800 mm(2) and recurrent urinary tract infection can be identified as independent predictors for the development of SIRS and sepsis.

Administration of 0.03 mg/kg doxazosin daily in children to treat distal ureteral stones up to 10 mm is not superior to analgesic alone. This result is not affected by gender, stone size or patient age. However, additional randomized controlled studies, especially including larger stone volumes, and different doses of doxazosin and other alpha-blockers, might highlight the usefulness of alpha-blockers for ureteral stones in children.

Introduction:The management of patients with large impacted upper ureteral stones is difficult; there is no standard treatment. We compared the outcomes of percutaneous nephrolithotomy (PCNL) and ureteroscopic lithotripsy (UL) to treat large (≥1.5 cm), impacted, upper ureteral stones. Methods: In total, 86 patients with large impacted upper ureteral stones were included in this study. Of these patients 41 underwent UL and 45 underwent PCNL. The inclusion criteria were: longest diameter of stone ≥1.5 cm, the localization of stone between the lower border of L4 spine and ureteropelvic junction and impacted stone. Results: In the UL group, we were unable to reach the stone in 3 patients because of ureteral stricture and edema despite balloon dilation. Of these 3 patients, we were unable to optimally visualize the stone in 2 patients due to bleeding and mucosal injury following balloon dilation. The stricture was too firm and could not be passed in the third patient. Also in the UL group, 15 patients had stones or big fragments which migrated into the renal collecting system. In the PCNL group, 21 patients had concurrent renal stones <1 cm and stones were successfully removed in all patients. No statistically significant difference was found between groups in terms of operation time. Mean hospital stay was significantly shorter in the UL group. Success rates were 82.3% in the UL group and 97.6% in the PCNL group (p = 0.001). Conclusion:The recent study confirms that PCNL is a safe and effective minimally invasive procedure with acceptable complication rates in the treatment of patients with large, impacted upper ureteral stones.

Objective: To evaluate the change in penile size r bilateral nerve sparing retropubic radical prostatectomy (BNSRRP) and possible effect of Tadalafil. Materials and Methods: A total of 65 patients underwent BNSRRP and they were evaluated prospectively for a whole year of follow-up . The patients were randomized to control without rehabilitation (Group 1) or Tadalafil rehabilitation group (Group 2). The patients were evaluated at months 3, 6 and 12 postoperatively for erectile function, penile measurements (flaccid penile length, penile length at maximum erection, penile circumference at flaccid status, and penile circumference at maximum erection), penile abnormalities and general health status. Statistical analysis was performed by Chi-Square test and significance was defined as p value < 0.05. Results: In Group 1 there was significant decrease in penile measurements at month 3 compared to preoperative measurements. There was decrease in all parameters at month 6 compared to month 3 but only the decrease in penile length at maximum erection was significant. There were no significant differences between postoperative months 6 and 12 for all measurements. In Group 2 there was a tendency to decrease in all measurements at month 3 compared to baseline. There was no significant difference for penile measurements between postoperative 3rd and 6th months and between 6th month and the first year. Conclusion: Although further large sampled trials are needed to describe the possible positive effect of tadalafil or other PDE5-I's on penile size after BNSRRP, tadalafil rehabilitation is effective in preserving penile size especially in the early postoperative period after BNSRRP.