A 3' untranslated region polymorphism rs2304277 in the DNA repair pathway gene OGG1 is a novel risk modulator for urothelial bladder carcinoma.

Altered DNA repair capacity may affect an individual's susceptibility to cancers due to compromised genomic integrity. This study was designed to elucidate the association of selected polymorphisms in DNA repair genes with urothelial bladder carcinoma (UBC). OGG1 rs1052133 and rs2304277, XRCC1 rs1799782 and rs25487, XRCC3 rs861539, XPC rs2228001, and XPD rs13181 were genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 200 UBC cases and 200 controls. We found association of OGG1 rs2304277 [odds ratio (OR)GG = 3.55, 95% confidence interval (CI) = 1.79-7.06] and XPC rs2228001 (ORAC = 2.38, 95% CI = 1.43-3.94) with UBC. In stratified analysis with respect to smoking status, OGG1 rs2304277 and XPC rs2228001 exhibited increased risk in smokers [(rs2304277 ORGG = 4.96, 95% CI = 1.51-16.30) (rs2228001 ORAC = 2.19, 95% CI = 1.02-4.72)] as well as nonsmokers [(rs2304277 ORGG = 2.95, 95% CI = 1.26-6.90) (rs2228001 ORAC = 2.57, 95% CI = 1.31-5.04)]. These polymorphisms were also associated with both low-grade [(rs2304277 ORGG = 3.73, 95% CI = 1.72-8.09) (rs2228001 ORAC = 2.18, 95% CI = 1.21-3.92)] and high-grade tumors [(rs2304277 ORGG = 3.45, 95% CI = 1.52-7.80) (rs2228001 ORAC = 2.81, 95% CI = 1.48-5.33)] as well as with non-muscle-invasive bladder cancer [(rs2304277 ORGG = 4.03, 95% CI = 1.87-8.67) (rs2228001 ORAC = 2.14, 95% CI = 1.20-3.81)] and muscle-invasive bladder cancer [(rs2304277 ORGG = 3.06, 95%CI = 1.31-7.13) (rs2228001 ORAC = 2.95, 95%CI = 1.51-5.75)]. This is the first study on DNA repair gene polymorphisms and UBC in the Pakistani population. It identifies OGG1 rs2304277 and replicates XPC rs2228001 as significant modulators of UBC susceptibility.

EFFICACY OF ENDOSCOPIC TREATMENT FOR PRIMARY VESICOURETERIC REFLUX IN CHILDREN.

BACKGROUND: Vesicoureteral reflux (VUR) is a common anomaly affecting 1-3% of all children and 30-50% of those with urinary tract infection (UTI). In the past febrile vesicoureteric reflux on chronic antibiotic prophylaxis were treated by open surgery. Now a day's endoscopic injection of a bulking material has replaced open surgical procedure in cases of primary VUR. Our objective was to assess the efficacy of endoscopic treatment for primary vesico-ureteric reflux in children. METHODS: This was a descriptive case series. One hundred and five patients with either unilateral or bilateral VUR (181 ureters) underwent endoscopic treatment for primary VUR between January 2011 and January 2014. Children from 1 to 12 years of age with grade-II to IV reflux on preoperative voiding cystourethrogram (VCUG) were enrolled through consecutive non-probability sampling. Efficacy of treatment was evaluated at three months post injection by a standard VCUG. Ureters with no or grade-I reflux were considered successful treatment. RESULTS: Out of 105 patients 76 had bilateral while 29 had unilateral reflux. Mean age was 5.7 years (SD ± .7). Among 181 refluxing ureters, 116 (64%) were free of reflux, while 49 (27%) showed down gradation and 16 (8.8%) showed no response to treatment on postoperative VCUG. CONCLUSION: Endoscopic treatment for VUR is a viable option for patients with primary VUR and may be considered in management of such cases.

Neuroblastoma in horseshoe kidney.

Neuroblastoma is one of the commonest malignancy of childhood. Neuroblatoma in horseshoe kidney is an extremely rare condition. There is only one case of this tumour occurring in horseshoe kidney described in the literature. Recently we successfully treated a boy with neuroblastoma in horseshoe kidney.

Female epispadias: spot diagnosis and simple reconstruction.

Isolated female epispadias without bladder exstrophy is a rare congenital anomaly. Patients present with total or partial urinary incontinence. The diagnosis can only be made on careful genitalia examination by separating the labia majora. That is why it is often missed by most physicians even after being extensively investigated. The physical findings include patulous urethra, flattened mons pubis, and bifid clitoris with lack of anterior labial commissure. In most of the cases, single stage reconstruction of urethra, labia minora and clitoris is enough to achieve urinary continence with cosmetically acceptable genitalia.

Outcomes Of Percutaneous Nephrolithotomy In Elder Age Patients-Single Center Experience.

BACKGROUND: Urolithiasis is a prevailing ailment affecting all age groups across global population. In modern innovative industry endoscopic instruments alterations and miniaturization has simplified the interventional strategy for undertaking these procedures for renal stones. However, there has been paucity of studies regarding outcomes of Percutaneous Nephrolithotomy (PCNL) in elder age group. We aimed to report success rates and complications in elder age group. METHODS: This was a retrospective review of the charts for subjects that underwent unilateral PCNL from 2012 till 2018 November at a tertiary care hospital at capital of Pakistan. Patients of age ≥60 years were chosen for this study. PCNL procedures were done in prone position. We implemented the Guy stone scoring (stone complexity) to forecast the net results of PCNL. Information regarding variables were recorded in specified proforma and then processed in SPSS version 16 for the statistical computations. RESULTS: On the whole 79 patients were incorporated for this study. Most common presenting complaint in clinic was flank pain followed by haematuria and fever respectively. Mean age in this analysis was calculated as 63.36±5.19 years. Mean size for calculi was 449±163mm2. One patient underwent transfusion after surgery while only 2.5% of these patients had sepsis (post PCNL procedure). Stone free rate was significantly affected by Guys stone score (GSS). CONCLUSIONS: PCNL can be undertaken safely and effectually for achieving treatment goals even in elder subjects. Stone free rates are higher in lower Guys stone score as compared to the higher scores.

Use Of Computed Tomography-Based Nomogram In Adult Age Patients To Predict Success Rates After Shock Wave Lithotripsy For Renal Stones: A Single Center Experience.

BACKGROUND: The Triple D score is a novel and easy to use nomogram to predict shock-wave lithotripsy (SWL) outcomes. It is based on Computed Tomography (CT scan) parameters including stone density, skin-to-stone distance, and stone volume. However, its use has not been validated much as studies are sparse regarding its use. Our aim was to validate and evaluate accuracy of the Triple D scoring system in predicting SWL success rates. METHODS: It was a prospective study of 277 patients who had undergone SWL procedure for renal stones. They were evaluated by using non-contrast tomography, before undergoing SWL. CT scan-based parameters including distance of stone to skin (SSD), stone volume (SV), stone density was assessed. Computation of Cut off values was done with receiver operating characteristics analysis. Score was assigned on the basis of these cut-off values and success rate of SWL was determined. This score ranged from 0 (least favourable score) to 3 (most favourable score). RESULTS: Stone-free status was attained in 160 patients (57.7%), and 117 (42.3%) patients were labelled to have failed the procedure. Differences between these two groups in terms of Stone volume, stone density and skin to stone distance were significant. Triple D scores of zero,1, 2, and 3 had stone-free rates of 3.6%, 52.56%, 53.3%, and 93.1% respectively (p-vaue<0.001). CONCLUSIONS: Shock-wave lithotripsy outcomes can be predicted with use of Triple D score and hence, it's externally corroborated. It may help urologist in appropriate patient selection and hence decision making and patient counselling.

A Comparison of Complications and Success Rates after PCNL in Younger and Elderly Patients.

OBJECTIVE: To compare the outcomes of percutaneous nephrolithotomy (PCNL) across younger and elderly, especially PCNL complications in terms of modified Clavian grading system. STUDY DESIGN:  Cros-sectional comparative study. PLACE AND DURATION OF STUDY: Department of Urology, Shifa International Hospital, Islamabad, from 2010 till 2018 December at a tertiary care hospital. METHODOLOGY: Patients who underwent unilateral PCNL were reviewed group 1 (younger, age < 60 years) had 594 patients; while group 2 (elderly, age >60 years) had 137 patents. Information regarding complication and success rate were recorded by residents in proforma and then processed for statistical computations. RESULTS: There were total of 731 subjects. The mean age in group 1 was 39.7±11.2 years and that of group B was 65.66±4.55 years. The mean size for calculi in group 1 was 2.83±1.32 cm while in group 2 stone size reached 2.81±1.04 cm. A total of 174 (23.8%) complications and stone free rate of 81.8% (598/731) was recorded in this study. Overall when compared, no notable difference in complications, hospital duration and success rates was observed between the young and elderly age group. CONCLUSION: Despite old age, the success rates and complications were not remarkably different from that of the younger subjects for prone PCNL. Key Words: Percutaneous nephrolithotomy, Geriatrics, Renal stone, Complications.

Managing a Large-Size Adrenal Cyst by Hand-Assisted Laparoscopic Surgery in a Young Male.

Adrenal cysts are not common and are most often non-functional and asymptomatic. Most of these cysts are found incidentally. These lesions exhibit a broad histomorphologic spectrum and may vary from benign cysts to malignant cystic neoplasms. Our patient was a 21-year male who presented with abdominal discomfort and epigastric pain and was diagnosed with left adrenal cyst on ultrasound, which was later confirmed by CT scan.

Primary Renal Epithelioid Angiosarcoma.

Primary renal angiosarcoma is a rare tumor. Epithelioid variant of primary renal angiosarcoma is extremely rare and aggressive entity described in literature as a few case reports. It presents as solid looking renal mass as other renal cell carcinomas. Management is not well described due to scarcity of cases and aggressiveness of disease. We hereby report a case of epithelioid renal angiosarcoma in a 62-year female who presented with features of infected perinephric collection. Histopathological and immunohistochemical examinations of the renal specimen revealed lower polar renal tumor with atypical epithelioid cells having eccentric nuclei with coarse chromatin and eosinophilic cytoplasm, which were positive for vascular endothelial (FLI-1, CD 34, CD31 and factor VII) as well as epithelial (CKAE1/AE3) immune markers. Based on the histopathological and immunohistochemical findings, the patient was diagnosed with primary renal epithelioid angiosarcoma.

Identification of novel potential genetic predictors of urothelial bladder carcinoma susceptibility in Pakistani population.

Urothelial bladder carcinoma (UBC) is the most common among urinary bladder neoplasms. We carried out a preliminary study to determine the genetic etiology of UBC in Pakistani population, for this 25 sequence variants from 17 candidate genes were studied in 400 individuals by using polymerase chain reaction-based techniques. Multivariate logistic regression analysis was performed for association analysis of the overall data as well as the data stratified by smoking status, tumor grade and tumor stage. Variants of GSTM1, IGFBP3, LEPR and ACE were found to be associated with altered UBC risk in the overall comparison. CYP1B1 and CDKN1A variants displayed a risk modulation among smokers; IGFBP3 and LEPR variants among non-smokers while GSTM1 polymorphism exhibited association with both. GSTM1 and LEPR variants conferred an altered susceptibility to low grade UBC; GSTT1, IGFBP3 and PPARG variants to high grade UBC while ACE polymorphism to both grades. GSTM1 and LEPR variants exhibited risk modulation for non-muscle-invasive bladder cancer (NMIBC); GSTT1 and PPARG variants for muscle-invasive bladder cancer (MIBC), and ACE variant for NMIBC as well as MIBC. In general, the susceptibility markers were common for low grade and NMIBC; and distinct from those for high grade and MIBC indicating the distinct pathologies of both groups. In brief, our results conform to reports of previously associated variants in addition to identifying novel potential genetic predictors of UBC susceptibility.