The Yield of Genetic Testing in Management of Nephrolithiasis.

OBJECTIVE: To describe the yield and indications for performing genetic testing in patients with nephrolithiasis. Genetic testing for nephrolithiasis is becoming more accessible and rapid due to technologic advances. This study aimed to determine the diagnostic yield of genetic testing in a cohort of high-risk stone formers and to identify 24-hour urine characteristics to prompt genetic screening. MATERIALS AND METHODS: We retrospectively identified patients who underwent genetic testing for nephrolithiasis from 2020 to 22 at a single institution using a custom PerkinElmer genomics panel for nephrolithiasis. We compared characteristics of patients with and without genetic abnormalities. We used receiver operator characteristic (ROC) analysis to identify candidate thresholds for genetic testing. RESULTS: Fourteen of 36 patients (39%) who underwent genetic testing had identifiable mutations. Five patients (14%) had known pathogenic mutations, including genes for primary hyperoxaluria (PH2 and PH3), cystinuria, and enamel-renal syndrome. The remaining mutations were variants of uncertain significance. Of the 14 patients with identified mutations, only 6 had concordant 24-hour urine abnormalities, including 3/5 with known pathogenic mutations. In patients with urine oxalate ≥ 40 mg/day, 3/29 (10.3%) had PH2 or PH3. ROC analysis showed that an oxalate threshold of ≥ 80 mg/day may have promising screening characteristics. CONCLUSION: Genetic testing for nephrolithiasis remains controversial due to unknown yield and the time and energy required to discuss results with patients. This preliminary report describes the yield and identifies clinical factors and a potential cut-off that may assist clinicians in deciding when genetic profiling should be pursued.

Patient Perception of Physician Reimbursement by Medicare for Artificial Urinary Sphincter Placement.

INTRODUCTION: Patient perceptions of physician reimbursement commonly differ from actual reimbursement. This study aims to improve health care cost transparency and trust between patients, physicians, and the health care system by evaluating patient perceptions of Medicare reimbursement for artificial urinary sphincter (AUS) placement. METHODS: We identified patients who underwent AUS placement at a single institution from 2014 to 2023. After obtaining informed consent, we administered a telephone survey to ask patients about their perceptions of Medicare reimbursement for AUS surgery and the amount they felt the physician should be compensated. RESULTS: Sixty-four patients were enrolled and completed the survey. On average, patients estimated Medicare physician reimbursement to be $18,920, 25 times the actual average procedure reimbursement. Once informed that the actual amount was $757.52, 97% of respondents felt that the reimbursement was "somewhat lower" (13%) or "much lower" (84%) than what they considered fair. The average amount that patients felt the physician should be paid was $8,844, 12 times the actual average procedure reimbursement. Fifty-four percent of patients estimated their physician's reimbursement to be higher than what they later reported as being "fair," representing a presurvey belief that their physician was overpaid. CONCLUSIONS: Patient perceptions of physician reimbursement for AUS are vastly different than the actual amount paid. The discordance between patient perception and actual reimbursement could impact how patients view health care costs and the relationship with their provider.

Renal Autotransplantation: Association Between Preoperative Disease Duration and Surgical Outcomes.

OBJECTIVE: To determine whether early versus delayed autotransplantation are associated with adverse outcomes in patients undergoing renal autotransplantation. METHODS: Patients who underwent renal autotransplantation from June 2012 to September 2022 were divided into 2 groups based on timing of autotransplant in relation to initial intervention or diagnosis (early cohort: ≤1-year; delayed cohort: >1-year). Primary outcomes were perioperative complications, aborted surgery, renal function (glomerular filtration rate [GFR]), and postoperative complications at most recent follow-up. RESULTS: Autotransplantation patients (N = 72) were predominantly female (68%) and White (54%), with a median age of 49 years. Ninety percentage of patients had undergone previous interventions, including stenting (40%) and nephrostomy tubes (49%), primarily for obstruction (64%). Early versus delayed cohorts had median preoperative disease durations of 143 (IQR 83-222) versus 673 days (IQR 529-1703, P <.001), with similar median follow-up times (879 vs 818 days, P = .8). Groups were similar in demographics and comorbidities. There were no significant differences in rates of aborted surgery (15% vs 4.2%, P = .3), perioperative complications (15% vs 17%, P > .9), long-term complications (49% vs 48%, P > .9), or changes in GFR (median change +3 vs +4, P = .7). Outcomes were comparable across preoperative disease durations ranging from 6 to 24 months. These findings were confirmed following adjustments for sex, body mass index, American Society of Anesthesiologists classification, race, preoperative creatinine levels, laterality, gastroesophageal reflux disease, diabetes, hypertension, nephrolithiasis, hyperlipidemia, history of colon surgery, urologic surgery, abdominal surgery, and prior interventions in separate logistic models. CONCLUSION: Disease duration before autotransplantation does not influence outcomes, offering reassurance for clinical decision-making in complex cases.

Conservative Management of Penile and Urethral Lichen Sclerosus: A Systematic Review.

PURPOSE: We evaluate the efficacy and safety profiles of currently available conservative management options for penile and urethral lichen sclerosus. MATERIALS AND METHODS: A systematic review of existing literature on lichen sclerosus was conducted utilizing the PubMed, Embase, and Web of Science databases. References were assessed for relevance to nonsurgical management of male genital lichen sclerosus by title and abstract by 3 independent reviewers, then reviewed in full and in duplicate by 5 independent reviewers. RESULTS: Seventeen studies describing conservative management of histologically confirmed penile and urethral lichen sclerosus in male patients were included in the final review. We present available evidence supporting the use of 4 major treatment modalities represented in the existing literature: topical corticosteroids, tacrolimus, platelet-rich plasma, and CO2 laser. We also briefly discuss the limited studies on the use of oral acitretin and polydeoxyribonucleotide injections. Outcomes assessed include symptoms, clinical appearance, quality of life, sexual satisfaction, adverse effects, and long-term efficacy of treatment. CONCLUSIONS: Topical corticosteroids remain the mainstay of conservative management of penile and urethral lichen sclerosus, with current literature supporting the use of other therapies such as tacrolimus and platelet-rich plasma as alternatives or adjuvant treatments when escalation of treatment is necessary. Future research should further explore the efficacy and safety of newer therapies through additional controlled clinical trials in the targeted population.

Rates and Factors Associated With Hardware Removal in Physeal Ankle Fractures: Analysis of the Pediatric Health Information System.

Background: Ankle fractures are among the most common physeal fractures in children. When surgical management is warranted, subsequent hardware removal remains controversial. This study was designed to determine rates of hardware removal in patients with physeal ankle fractures and identify risk factors for removal. Procedure data was utilized to compare rates of subsequent ankle procedures in patients with hardware removed and hardware retained. Methods: We conducted a retrospective cohort study utilizing data from the Pediatric Health Information System (PHIS) for the years 2015 through 2021. We longitudinally followed patients treated for distal tibia physeal fractures to determine the rates of hardware removal and subsequent ankle procedures. Patients with open fractures or polytrauma were excluded. We used univariate, multivariate, and descriptive statistics to characterize the rates of hardware removal, identify factors associated with removal, and assess the rates of subsequent procedures. Results: This study included 1008 patients who underwent surgical management of a physeal ankle fracture. The mean age at index surgery was 12.6 years with an SD of 2.2 years, and 60% of patients identified as male. Two hundred forty-two patients (24%) had their hardware removed at an average time of 276 days (range, 21-1435 days) following index surgery. Patients with Salter Harris III (SH-III) or Salter Harris IV (SH-IV) fractures had hardware removed more often than patients with Salter-Harris II (SH-II) fractures (28.9% vs 11.7%, P < .01). Four-year rates of subsequent ankle procedures are similar between patients with hardware removed and hardware retained. Conclusion: The rate of hardware removal in children with physeal ankle fractures is higher than previously reported. Patients of younger age, higher income, and with fractures involving the epiphysis (SH-III and SH-IV) are more likely to undergo hardware removal. Level of Evidence: Level III, retrospective study.