Urofacial syndrome (UFS) (or Ochoa syndrome) is an autosomal-recessive disease characterized by congenital urinary bladder dysfunction, associated with a significant risk of kidney failure, and an abnormal facial expression upon smiling, laughing, and crying. We report that a subset of UFS-affected individuals have biallelic mutations in LRIG2, encoding leucine-rich repeats and immunoglobulin-like domains 2, a protein implicated in neural cell signaling and tumorigenesis. Importantly, we have demonstrated that rare variants in LRIG2 might be relevant to nonsyndromic bladder disease. We have previously shown that UFS is also caused by mutations in HPSE2, encoding heparanase-2. LRIG2 and heparanase-2 were immunodetected in nerve fascicles growing between muscle bundles within the human fetal bladder, directly implicating both molecules in neural development in the lower urinary tract.
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.
Computed tomography (CT) is widely used to examine stones in the urinary system. In addition to the size and location of the stone and the overall health of the kidney, CT can also assess the density of the stone in Hounsfield units (HU). The HU, or Hounsfield density, measured by CT, is related to the density of the tissue or stone. A number of studies have assessed the use of HU in urology. HUs have been used to predict the type and opacity of stones during diagnosis, and the efficacy has been assessed using methods including extracorporeal shock wave lithotripsy (ESWL), percutaneous nephrolithotomy (PCNL), ureterorenoscopic ureterolithotripsy (URSL), and medical expulsive treatment (MET). Previous studies have focused on the success rate of HU for predicting the type of stone and of ESWL treatment. Understanding the composition of the stone plays a key role in determining the most appropriate treatment modality. The most recent reports have suggested that the HU value and its variants facilitate prediction of stone composition. However, the inclusion of data regarding urine, such as pH and presence of crystals, increases the predictive accuracy. HUs, which now form part of the clinical guidelines, allow us to predict the success of ESWL; therefore, they should be taken into account when ESWL is considered as a treatment option. However, there are currently insufficient data available regarding the value of HU for assessing the efficacy of PCNL, URSL, and MET. Studies performed to date suggest that these values would make a significant contribution to the diagnosis and treatment of urinary system stones. However, more data are required to assess this further.
Prostate cancer (PCa) is the second leading cause of cancer-related death in males. Hypertriglyceridemia and obesity are known risk factors for disease development. Omentin is a plasma adipokine that is synthesized in visceral adipose tissue; its plasma concentration changes in colorectal cancer and conditions associated with insulin resistance. To our knowledge, the relationship between omentin and PCa has not been investigated previously. Therefore, we evaluated omentin levels in PCa patients in this matched case-control study. Fifty consecutive patients newly diagnosed with PCa and 30 consecutive patients newly diagnosed with benign prostatic hyperplasia (BPH) were assessed. Patients with PCa were divided into three subgroups according to the Gleason score. The omentin concentrations were determined using enzyme-linked immunosorbent assays. Blood urea nitrogen (p < 0.001), creatinine (Cr; p < 0.001), total cholesterol (p < 0.001), low-density lipoprotein (p < 0.001), and prostate-specific antigen (PSA; p = 0.03) levels were significantly higher in the PCa group than the BPH group. The median omentin level in BPH patients was 373 (207-792) versus 546.8 (297.1-945.7) ng/mL in the PCa group (p < 0.001). There was a negative weak/moderate correlation between omentin and body mass index in the BPH group (r = -0.364, p = 0.048). Circulating omentin levels were elevated in patients with PCa. Further studies would be useful to establish the mechanism underlying this increase and to assess the interaction between PCa and adipose tissue.
Objective: To compare the results of percutaneous nephrolithotomy (PCNL), shock wave lithotripsy (SWL), and retrograde intrarenal surgery (RIRS) for 1- to 2-cm lower pole kidney stones. Patients and Methods: This retrospective study was based on data collected from the files of patients between January 2007 and May 2012. The files of 383 patients (221 SWL, 144 PCNL, 38 RIRS) were evaluated. The groups were compared for stone size, success rate, and complication rate using the modified Clavien grading system. Results: The stone burdens of the groups were similar (p = 0.36). The success rates were 76, 94, and 73%, respectively, in SWL, PCNL, and RIRS. The highest stone-free rate was in the PNL group (p < 0.05). When the complication rates were evaluated using the Clavien grading system, they were determined to be 13% in PCNL, 3% in SWL, and 5% in RIRS. Especially GII and GIII complications were more common in the PCNL group (p < 0.05). Conclusion: PCNL seems to be the most successful but most invasive method. However, with relatively low complication rates, SWL and RIRS are other techniques to keep in mind. To determine the first-line treatment, prospective randomized studies with larger series are needed.
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