Population genetics analysis of SLC3A1 and SLC7A9 revealed the etiology of cystine stone may be more than what our current genetic knowledge can explain.

BACKGROUND: Cystine stone is a Mendelian genetic disease caused by SLC3A1 or SLC7A9. In this study, we aimed to estimate the genetic prevalence of cystine stones and compare it with the clinical prevalence to better understand the disease etiology. METHODS: We analyzed genetic variants in the general population using the 1000 Genomes project and the Human Gene Mutation Database to extract all SLC3A1 and SLC7A9 pathogenic variants. All variants procured from both databases were intersected. Pathogenic allele frequency, carrier rate, and affected rate were calculated and estimated based on Hardy-Weinberg equilibrium. RESULTS: We found that 9 unique SLC3A1 pathogenic variants were carried by 26 people and 5 unique SLC7A9 pathogenic variants were carried by 12 people, all of whom were heterozygote carriers. No homozygote, compoun d heterozygote, or double heterozygote was identified in the 1000 Genome database. Based on the Hardy-Weinberg equilibrium, the calculated genetic prevalence of cystine stone disease is 1 in 30,585. CONCLUSION: The clinical prevalence of cystine stone has been previously reported as 1 in 7,000, a notably higher figure than the genetic prevalence of 1 in 30,585 calculated in this study. This suggests that the etiology of cystine stone is more complex than what our current genetic knowledge can explain. Possible factors that may contribute to this difference include novel causal genes, undiscovered pathogenic variants, alternative inheritance models, founder effects, epigenetic modifications, environmental factors, or other modifying factors. Further investigation is needed to fully understand the etiology of cystine stone.

Distribution of a photographic atlas did not reduce postoperative care utilization after pediatric circumcision or the indispensability of the pediatric urology clinic nurse.

BACKGROUND: Surgery in children is increasingly ambulatory, and caregiver responsibilities for postoperative care can produce anxiety. Prior studies have suggested the distribution of a photographic atlas can mitigate caregiver anxiety and reduce clinic phone calls and in-person presentations after pediatric penile surgery. OBJECTIVE: A pilot study of the ability of a photographic atlas, distributed to caregivers, was aimed to be conducted to reduce postoperative resource utilization. STUDY DESIGN: Patients undergoing circumcision or revision circumcision were randomized to standard postoperative instructions vs. standard instructions with a photographic atlas representing appropriate penile appearance at successive time points. Electronic records were reviewed for phone calls or in-person presentations to the clinic or emergency department (ED) within 1 month of surgery. RESULTS: Fourteen patients (44%) received the atlas, and 18 (56%) did not. Patients who received the atlas did not differ significantly from patients who did not receive it in their rate of clinic phone calls (36% vs 39%, p = 0.85), calls per patient (0.5 vs. 0.7, p = 0.78), ED visits (7% vs. 11%, p = 0.70), calls and visits combined (44% vs. 43%, p = 0.93), or the proportion of calls and emergency room presentations related to concerns about the penile appearance (22% vs. 36%, p = 0.66). Overall, 19 postoperative phone calls were received from 12 patients, and 4 visits to the ED were made by 3 patients. Reasons for calls to the clinic were diverse, and 9 distinct categories of concern were identified apart from wound appearance. DISCUSSION: The impressive diversity of caregiver concerns prompting postoperative communication may partly underlie the failure of the atlas to reduce resource utilization in this study. Most postoperative calls or visits were unrelated to concern about the penile appearance, which limits the degree to which this or any visual guide to wound healing can reduce the need for postoperative attention. CONCLUSION: Receipt of the atlas did not significantly reduce postoperative contacts or affect the proportion of contacts represented by concerns about penile appearance. Resources must remain directed toward individualized attention to caregiver concerns, delivered by experienced urologic support staffs, who remain the mainstay of postoperative support.

An institutional analysis of unplanned return to the operating room to identify areas for quality improvement.

BACKGROUND: Unplanned return to the operating room (uROR) has been suggested as a hospital quality indicator. The purpose of this study was to determine reasons for uROR to identify opportunities for patient care improvement. METHODS: uROR reported by our institution's American College of Surgeons National Surgical Quality Improvement Program underwent secondary review. RESULTS: The uROR rate reported by clinical reviewers was 4.3%. Secondary review re-categorized 64.7% as "true uROR" with the most common reasons for uROR being infection (30.9%) and bleeding (23.6%). Remaining cases were categorized as "false uROR" with the most common reasons being inadequate documentation (60.0%) and not directly related to index procedure (16.7%). CONCLUSIONS: Strict adherence to NSQIP definitions results in misidentification of true uROR. This raises concerns for using NSQIP-identified uROR as a hospital quality metric. Improved processes of care to prevent infection and hemorrhage at our institution could reduce the rate of true uROR.

Successful conservative management of a large iatrogenic vesicovaginal fistula after loop electrosurgical excision procedure.

A 40-year-old G3P3 woman with grade 3 cervical intraepithelial neoplasia underwent loop electrosurgical excision procedure complicated by a large vesicovaginal fistula. She was initially managed with an indwelling Foley catheter to allow for fistula maturation. During planned surgical repair it was discovered that the fistula had closed spontaneously.

Ureteric stent placement with extraction string: no strings attached?

UNLABELLED: Study Type--Therapy (case series) Level of Evidence 4 What's known on the subject? and What does the study add? Of patients treated with an indwelling ureteric stent 80-90% experience lower urinary tract symptoms that are a hindrance to health-related quality of life. The prevalence of the extraction/retrieval string after ureteroscopy for stone disease and stent placement varies significantly between surgeons and published series, but the benefits of eliminating the need for a secondary procedure such as cystoscopy and stent removal, as well as the decrease in cost to the patient are well established. Published reports have not addressed the prevalence of post-procedure related events (PREs) in patients who have received an indwelling ureteric stent with the extraction/retrieval string still intact after ureteroscopy for stone disease. By analysing PREs (Emergency Room visits, unscheduled clinic visits, and telephone calls) related to their stent or procedure for patients with and without an extraction/retrieval string, the feasibility of the extraction string can be validated and the misconceptions about their use can be alleviated. OBJECTIVE: • To review a retrospective ureteric stent cohort with and without extraction string to compare post-procedure related events (PRE), as ureteric stent placement after endoscopic management of urolithiasis is common, but data regarding the potential benefits or disadvantages of ureteric stent placement with extraction string are sparse. PATIENTS AND METHODS: • Between June 2009 and June 2010, 293 patients underwent ureteroscopy with or without lithotripsy for stone disease. • In all, 181 patients had a unilateral procedure and underwent stent placement postoperatively. • Records were retrospectively reviewed for operative data and PRE occurring within the first 6 weeks after surgery, defined as unscheduled clinic or Emergency Room visits, or adverse event telephone calls. RESULTS: • Of 181 patients who underwent ureteric stent placement, 43 (23.8%) included an extraction string. • In all, 34.3% of all patients had a PRE, including 37.2% and 33.3% of patients with and without extraction string, respectively (P = 0.64). • PRE occurred in men with or without an extraction string (27.8 vs 32.4%, respectively; P = 0.71) and women with or without an extraction string (44.0 vs 34.3%, respectively, P = 0.39). • PRE occurred with relatively equal frequency between men and women (P = 0.28). • Only two women (4.7%) reported removing their stent prematurely, on postoperative days 2 and 6. CONCLUSIONS: • Ureteric stent placement with extraction string after ureteroscopy for stone disease does not seem to result in more PRE, regardless of gender. • Prospective randomised trials are needed to determine the benefits and disadvantages of ureteric stents with extraction string.