Eye color prediction using single nucleotide polymorphisms in Saudi population.

BACKGROUND: DNA prediction of eye color represent one application of the externally visible characteristics (EVC), which attained growing interest in the field of DNA forensic phenotyping. This is mainly due to its ability to narrow the pool of suspects without the need to compare any retrieved DNA material from the crime scene to a reference DNA. Several methods and multiplex genetic panel were proposed with variable prediction accuracy between different populations. However, such panel was not previously tested in the Saudi population, nor any populations of the Middle East and North Africa origin. METHOD: A panel of eleven single nucleotide polymorphisms (SNPs) was tested for their association with three eye colors (brown, hazel, and intermediate) in 80 volunteer Saudi individuals. SNPs and haplotype association test with eye colors were performed to identify the top significant SNPs with the three eye colors. Also, multinomial logistic regression was used to construct the prediction model using a training set of 60 subjects, and a validation set of 20 subjects. The goodness of fit parameter of the model to correctly predicts each eye color as compared to the other was performed. RESULTS: Eye color was significantly associated with rs12913832, rs7170852, and rs916977 that are located within HERC2. SNP rs12913832 was the top significant SNP (p-value = 1.78E-15) that accounted for the association in this region, as the other SNPs were not significant after adjusting for rs12913832. A prediction model containing five SNPs showed high prediction accuracy with Area Under the receiver operating characteristic Curves (AUC) equals to 0.95 and 0.83 for brown and intermediate eye colors, respectively. However, the model's performance was very low for predicting the hazel eye color with AUC equals 0.75. DISCUSSION: Despite the small sample size of our study, we reported very significant SNP associations with eye color. Our model to predict eye colors based on DNA material showed high accuracy for brown and intermediate eye colors. The eye color prediction-model underperformed for the hazel eye colors, suggesting that larger sample size, as well as more comprehensive set of SNPs, could improve the model-prediction accuracy.

Lymphoepithelioma-Like Carcinoma of the Breast: A Case Report Unveiling Several Clinical and Histopathological Challenges.

Lymphoepithelioma-like carcinoma (LELC) of the breast is an extremely rare tumor type. Histologically, it mimics undifferentiated nasopharyngeal carcinoma by demonstrating nests of neoplastic epithelial cells in a background of lymphoplasmacytic infiltrates. This paper reports a 62-year-old female patient with a 3 × 1.5 cm BI-RADS type IV breast mass diagnosed on excisional biopsy as LELC. The tumor is negative for estrogen and progesterone receptors and did not overexpress HER2/neu. Routine tests for clearance before surgery were performed, and patient was managed by a modified radical mastectomy with axillary lymph node dissection showing no residual tumor. Surgical CAse REports (SCARE) guidelines were followed for reporting our case. The rarity of LELC of the breast warrants the establishment and implementation of well-defined guidelines and criteria for diagnosis and management.

Analysis of oncological outcomes and renal function after laparoendoscopic single-site (LESS) partial nephrectomy: a multi-institutional outcome analysis.

OBJECTIVE: To report on a large multi-institutional series of laparoendoscopic single-site (LESS) partial nephrectomy (PN) and analyse renal function and short-term oncological outcomes. MATERIAL AND METHODS: We conducted a retrospective analysis of consecutive cases of LESS-PN performed between November 2007 and March 2012 at 11 participating institutions. Demographic data and data on the main peri-operative outcomes and complications were gathered and analysed. Kidney function was evaluated by measuring serum creatinine concentration and estimated glomerular filtration rate (eGFR). Chronic kidney disease was defined in stages for each patient according to the National Kidney Foundation, Kidney Disease Outcomes Quality Initiative. RESULTS: A total of 190 cases were included in this analysis. The mean renal tumour size was 2.6 cm, and the mean PADUA score was 7.2. The median operating time was 170 min with a median estimated blood loss of 150 mL. A clampless technique was used in 70 cases (36.8%) and the median warm ischaemia time (WIT) was 16.5 min. PADUA score independently predicted the length of WIT (low vs high score: odds ratio 5.11, CI 1.50-17.41, P = 0.009; intermediate vs high score: odds ratio 5.13, CI 1.56-16.88, P = 0.007). The overall postoperative complication rate was 14.7%. Where a clamping technique was used, a significant increase in serum creatinine concentration and a significant decrease in eGFR were observed postoperatively and at 6 months. On multivariate analysis PADUA score was the only predicting factor. Overall survival rates were 99, 97 and 88% at 12-, 24- and 36-month follow-up, respectively, while disease-free survival rates were 98% at 12-month and 97% at 24- and 36-month follow-up. CONCLUSION: The study showed that LESS-PN is effective in terms of renal function preservation and oncological control at short- and intermediate-term follow-up.

Robotic retroperitoneal transvaginal natural orifice translumenal endoscopic surgery (NOTES) nephrectomy: feasibility study in a cadaver model.

OBJECTIVE: To evaluate the feasibility of pure robotic natural orifice translumenal endoscopic surgery (R-NOTES) nephrectomy. METHODS: Two R-NOTES nephrectomy approaches were attempted in 3 female cadavers. A single-port device was inserted through an incision in the posterior vaginal fornix. In the first approach, the peritoneal cavity was accessed in the lithotomy position. In the second approach, the retroperitoneum of 2 cadavers was accessed in the prone jackknife position. The ureter was identified and followed cranially. The hilum was stapled and the kidney was dissected. The specimen was extracted into a bag. The incision was closed with an open approach. RESULTS: The first approach was not possible because of collision of the robotic arms against the legs and limited bowel retraction. After modifying the approach, a right transvaginal R-NOTES retroperitoneal nephrectomy was successfully completed, without adding extra ports. Time for setup was 128 minutes. Time to identify the ureter was 53 minutes. Dissection and control of the renal pedicle was completed in 21 minutes. Time to complete the dissection and extraction of the kidney was 36 minutes. Time to complete the procedure was 238 minutes. There were no injuries to retroperitoneal organs or vessels. In the third cadaver, there was rectal injury during the access. We were unable to complete the procedure because of the cadaver height. CONCLUSION: Transvaginal R-NOTES nephrectomy is technically challenging but feasible in select female cadavers. Retroperitoneal approach in the prone jackknife position was instrumental in facilitating robotic access to the kidney through the vagina. Improvements in the technique and instrumentation are necessary to make this approach safe and reproducible.

Laparoendoscopic single-site partial nephrectomy: a multi-institutional outcome analysis.

BACKGROUND: Laparoendoscopic single-site surgery (LESS) has been developed in an attempt to further reduce the surgical trauma associated with conventional laparoscopy. Partial nephrectomy (PN) represents a challenging indication for LESS. OBJECTIVE: To report a large multi-institutional series of LESS-PN and to analyze the predictors of outcomes after LESS-PN. DESIGN, SETTING, AND PARTICIPANTS: Consecutive cases of LESS-PN done between November 2007 and March 2012 at 11 participating institutions were included in this retrospective analysis. INTERVENTION: Each group performed LESS-PN according to its own protocols, entry criteria, and techniques. OUTCOME MEASUREMENTS AND STATISTICAL ANALYSIS: Demographic data, main perioperative outcome parameters, and perioperative complications were gathered and analyzed. A multivariable analysis was used to assess the factors predicting a short (≤ 20 min) warm ischemia time (WIT), the occurrence of postoperative complication of any grade, and a favorable outcome, arbitrarily defined as a combination of the following events: short WIT plus no perioperative complications plus negative surgical margins plus no conversion to open surgery or standard laparoscopy. RESULTS AND LIMITATIONS: A total of 190 cases were included in this analysis. Mean renal tumor size was 2.6, and PADUA score 7.2. Median operative time was 170 min, with median estimated blood loss (EBL) of 150 ml. A clampless technique was adopted in 70 cases (36.8%), and the median WIT was 16.5 min. PADUA score independently predicted length of WIT (low vs high score: odds ratio [OR]: 5.11 [95% confidence interval (CI), 1.50-17.41]; p=0.009; intermediate vs high score: OR: 5.13 [95% CI, 1.56-16.88]; p=0.007). The overall postoperative complication rate was 14.7%. The adoption of a robotic LESS technique versus conventional LESS (OR: 20.92 [95% CI, 2.66-164.64]; p=0.003) and the occurrence of lower (≤ 250 ml) EBL (OR: 3.60 [95% CI, 1.35-9.56]; p=0.010) were found to be independent predictors of no postoperative complications of any grade. A favorable outcome was obtained in 83 cases (43.68%). On multivariate analysis, the only predictive factor of a favorable outcome was the PADUA score (low vs high score: OR: 4.99 [95% CI, 1.98-12.59]; p<0.001). Limitations of the study were the retrospective design and different selection criteria for the participating centers. CONCLUSIONS: LESS-PN can be safely and effectively performed by experienced hands, given a high likelihood of a single additional port. Anatomic tumor characteristics as determined by the PADUA score are independent predictors of a favorable surgical outcome. Thus patients presenting tumors with low PADUA scores represent the best candidates for LESS-PN. The application of a robotic platform is likely to reduce the overall risk of postoperative complications.

Single institutional cost analysis of 325 robotic, laparoscopic, and open partial nephrectomies.

OBJECTIVE: To compare costs associated with partial nephrectomy (PN) using robotic, laparoscopic (LPN), and open (OPN) approaches. METHODS: An Investigational Review Board-approved prospectively maintained database was reviewed for 325 patients who underwent PN at our institution from January 2009 to December 2010. Costs for each surgical technique were itemized, including hospitalization, operating room (OR), anesthesia, medication, laboratory and pathology, professional fees, and blood bank. Continuous variables were analyzed with Kruskal-Wallis and Wilcoxon tests, and categoric variables were analyzed with χ(2) and Fisher exact tests. RESULTS: Median costs of RPN were higher than LPN ($632, P = .005), but not significantly higher than OPN ($313, P = .14). The major cause of this difference was OR instrumentation and supplies. OR costs for LPN and OPN were equivalent (P = .11). The cost associated with anesthesia was significantly lower for RPN and LPN than for OPN (P = .002). RPN and LPN had lower hospitalization costs than OPN (P <.0001), which was largely due to the shorter hospital stay (P <.0001) and lower laboratory cost (P <.0001). Pharmacy costs and blood bank costs were not significantly different among groups (P = .09 and P = .48, respectively). CONCLUSION: RPN had higher operating room costs than LPN and OPN, primarily due to instrumentation and supplies. This higher cost was offset by decreased cost of hospitalization in compared with the OPN group. Modification of practices aimed at lowering RPN instrumentation and supply costs may enable cost equivalence.

Does preserved kidney volume predict 1 year donor renal function after laparoscopic living donor nephrectomy?

The aim of the present study was to evaluate whether preserved kidney volume predicts donor renal function at 1-year post-surgery. Data of patients who underwent laparoscopic living donor nephrectomy between October 2006 and September 2010 were retrospectively reviewed. All patients underwent computed tomography scan with an estimation of kidney volume by using an automated segmentation algorithm. We also calculated kidney volume adjusted for donor body surface area and donor preserved kidney volume ratio (split volume). Estimated glomerular filtration rate was estimated using the Modification of Diet in Renal Disease equation. Predictors of the estimated glomerular filtration rate at 1 year were assessed by multiple linear regression. The 1-year estimated glomerular filtration rate was available in 140 patients. The median age was 40 years, and median adjusted preserved kidney volume was 160.5 cc/1.73 m(2) (interquartile range 143.7-177.9). Median estimated glomerular filtration rate was 92.4 (interquartile range 81.9-101.2) and 61.2 mL/min/1.73 m(2) (interquartile range 53.4-68.7), respectively, at baseline and at 1 year. Preserved kidney volume adjusted to body surface area (P = 0.02) with age (P = 0.002) and preoperative estimated glomerular filtration rate (P < 0.001) were independent predictors of estimated glomerular filtration rate at 1 year. However, split kidney volume was not statistically related to estimated glomerular filtration rate at 1 year (P = 0.47). In order to maximize preservation of donor renal function, the pre-donation kidney volume adjusted to body surface area might be a useful parameter to consider when deciding on living kidney donation.

Robot-assisted ureteroneocystostomy: technique and comparative outcomes.

BACKGROUND AND PURPOSE: Ureteroneocystostomy can be used for the treatment of patients with a wide variety of ureteral pathology. Over the last decade, robot-assisted surgery has become more commonly used as a minimally invasive approach for reconstructive upper urinary tract procedures. The aim of this study is to present our experience with robot-assisted ureteroneocystosctomy (RUNC) with a comparison with that of open ureteroneocystostomy (OUNC). PATIENTS AND METHODS: Medical records of 25 patients who underwent RUNC and 41 patients who underwent OUNC or at our institution between 2000 and 2010 were retrospectively analyzed. Perioperative and postoperative data including demographics, surgical outcomes, and clinical and radiographic findings at postoperative follow-up were considered in the comparative analysis. Descriptive statistics were used to present the data. The significance of the difference between variables was evaluated using the Wilcoxon rank sum test for continuous and Fisher exact test for categorical variables. RESULTS: No significant differences were detected in terms of baseline patient characteristics between the two groups. The OUNC procedures were performed with a shorter median operative time (200 vs 279 min., P=0.0008), whereas RUNC patients had a shorter hospital stay (median 3 vs 5 days, P=0.0004), less narcotic pain requirement (morphine equivalent, mg 104.6 vs 290, P=0.0001), and less estimated blood loss (100 vs 150 mL, P=<0.0002). There as no significant difference in the rate of reoperation between groups: RUNC 2/25 (7.6 %) vs OUNC 4/41 (9.7%) P=0.8. Limitations include the retrospective nature of the study and the difference in indications for surgery. CONCLUSION: RUNC provides excellent outcomes with shorter hospital stay, less narcotic pain requirement, and decreased blood loss when compared with the open procedure. Advantages of the robotic platform for dissection and suturing can be useful for complex minimally invasive urologic reconstructive procedures.

Cryoablation versus minimally invasive partial nephrectomy for small renal masses in the solitary kidney: impact of approach on functional outcomes.

PURPOSE: We evaluated the change in renal function after renal cryoablation and partial nephrectomy based on tumor complexity according to the R.E.N.A.L. nephrometry score. MATERIALS AND METHODS: We retrospectively reviewed the data of patients who had a renal tumor in a solitary kidney, and underwent renal cryoablation and partial nephrectomy between December 2000 and January 2012. Renal tumor complexity was categorized into 3 groups by R.E.N.A.L. nephrometry score as low (4 to 6), intermediate (7 to 9) and high (10 to 12). All baseline demographic data, perioperative parameters and followup data including renal function were collected. Comparisons were made among similar tumor complexities. RESULTS: In the renal cryoablation and partial nephrectomy groups 29 patients (43 tumors) and 33 patients were identified, respectively. In all renal tumor complexities, renal cryoablation provided a better perioperative outcome in terms of median operative time, estimated blood loss, transfusion, hospital stay and complications. The median change in serum creatinine and estimated glomerular filtration rate was slightly greater in the partial nephrectomy group. However, the differences were not statistically significant for any of the tumor complexities. Three patients (10%) in the renal cryoablation group and 2 (6%) in the partial nephrectomy group required long-term dialysis. CONCLUSIONS: In patients with solitary kidneys, renal cryoablation is associated with superior perioperative outcomes compared to partial nephrectomy. Specifically, partial nephrectomy is not associated with greater loss of renal function than renal cryoablation regardless of the extent of tumor complexity.

Robotic versus laparoscopic partial nephrectomy for tumor in a solitary kidney: a single institution comparative analysis.

OBJECTIVES: To compare the outcomes of robot-assisted laparoscopic partial nephrectomy and laparoscopic partial nephrectomy for renal tumor in patients with a solitary kidney. METHODS: We retrospectively reviewed data of patients with solitary kidney who underwent laparoscopic (n = 52) and robot-assisted (n = 15) partial nephrectomy for renal tumor at Cleveland Clinic, Cleveland, Ohio, USA, between June 2000 and April 2012. Patient demographic data, perioperative parameters and follow-up data were compared. RESULTS: The two groups were similar in terms of patients and tumor characteristics, including preoperative renal function and etiology of solitary kidney. The median operative time (225 vs 171 min, P = 0.02), warm ischemia time (19 vs 15 min, P = 0.04) and hospital stay (4 vs 3 days, P = 0.03) were significantly shorter in the robotic group. No significant differences were found in terms of estimated blood loss, transfusion, complications, pathological results and margin status. The median percentage change of renal function was not significantly different between two groups. Long-term hemodialysis was required for three patients in the laparoscopic group (6%) and none of the patients in the robotic group. Median follow up was 15.6 and 5.9 months in the laparoscopic and robotic group, respectively. CONCLUSIONS: Robot-assisted partial nephrectomy represents a safe and effective minimally-invasive treatment option for renal masses in patients with a solitary kidney. Early comparative outcomes suggest that it offers a significant benefit over the laparoscopic approach in terms of operative time, warm ischemia time and hospital stay. Further studies with a longer follow up are required to confirm the likelihood of better long-term functional and oncological outcomes.

Robotic single-site kidney surgery: evaluation of second-generation instruments in a cadaver model.

OBJECTIVE: To evaluate the second generation of single-site instruments for robotic laparoendoscopic single-site surgery (R-LESS) for kidney procedures in a cadaver model. METHODS: Three procedures, including 1 pyeloplasty, 1 partial nephrectomy, and 1 nephrectomy, were conducted in a female cadaver model. A da Vinci Si system (Intuitive Surgical, Sunnyvale, CA) and the second generation of single-site instruments, specifically designed for R-LESS, were used. RESULTS: All the procedures were completed successfully without the addition of extra ports. Time to set up the port and instruments was 40 minutes. In the pyeloplasty, time to complete the anastomosis was 39 minutes. In the partial nephrectomy, simulated ischemia time was 21 minutes. In the nephrectomy, time to complete the resection was 13 minutes. No significant gas leak was noticed during the procedures. There were no injuries to intraabdominal organs or vessels. CONCLUSION: Robotic single-site renal surgery using a second generation of specifically designed instruments was feasible in a cadaver model, obviating many limitations of LESS. Lack of articulation at the tip of the instruments represents the main disadvantage of this novel instrumentation, especially in case of reconstructive procedures.