A case of resistant granuloma faciale successfully treated with ablative fractional carbon dioxide laser.

Granuloma faciale is a benign and rare skin disease, which usually presents as well-defined red-purple asymptomatic plaques or nodules on the face but can also present extra-facially. It poses a significant therapeutic challenge, with varying degrees of success reported by a range of medical and surgical treatments. We describe a 41-year-old lady with biopsy-confirmed facial granuloma faciale, affecting her nose, cheeks, upper lip, and forehead, who had failed a variety of medical treatments, UVB phototherapy, and pulsed dye laser. She was successfully treated with ablative fractional CO2 laser, with a sustained response, without recurrence or complications maintained for 1 year.

Description and Cross-Sectional Analyses of 25,880 Adults and Children in the UK National Registry of Rare Kidney Diseases Cohort.

Introduction: The National Registry of Rare Kidney Diseases (RaDaR) collects data from people living with rare kidney diseases across the UK, and is the world's largest, rare kidney disease registry. We present the clinical demographics and renal function of 25,880 prevalent patients and sought evidence of bias in recruitment to RaDaR. Methods: RaDaR is linked with the UK Renal Registry (UKRR, with which all UK patients receiving kidney replacement therapy [KRT] are registered). We assessed ethnicity and socioeconomic status in the following: (i) prevalent RaDaR patients receiving KRT compared with patients with eligible rare disease diagnoses receiving KRT in the UKRR, (ii) patients recruited to RaDaR compared with all eligible unrecruited patients at 2 renal centers, and (iii) the age-stratified ethnicity distribution of RaDaR patients with autosomal dominant polycystic kidney disease (ADPKD) was compared to that of the English census. Results: We found evidence of disparities in ethnicity and social deprivation in recruitment to RaDaR; however, these were not consistent across comparisons. Compared with either adults recruited to RaDaR or the English population, children recruited to RaDaR were more likely to be of Asian ethnicity (17.3% vs. 7.5%, P-value < 0.0001) and live in more socially deprived areas (30.3% vs. 17.3% in the most deprived Index of Multiple Deprivation (IMD) quintile, P-value < 0.0001). Conclusion: We observed no evidence of systematic biases in recruitment of patients into RaDaR; however, the data provide empirical evidence of negative economic and social consequences (across all ethnicities) experienced by families with children affected by rare kidney diseases.

Follow-up of urolithiasis patients after treatment: an algorithm from the EAU Urolithiasis Panel.

OBJECTIVE: To develop a follow-up algorithm for urinary stone patients after definitive treatment. MATERIALS AND METHODS: The panel performed a systematic review on follow-up of urinary stone patients after treatment (PROSPERO: CRD42020205739). Given the lack of comparative studies we critically evaluated the literature and reached a consensus on the follow-up scheme. RESULTS: A total of 76 studies were included in the analysis, including 17 RCTs. In the stone-free general population group, 71-100% of patients are stone-free at 12 months while 29-94% remain stone-free at 36 months. We propose counselling these patients on imaging versus discharge after the first year. The stone-free rate in high-risk patients not receiving targeted medical therapy is < 40% at 36 months, a fact that supports imaging, metabolic, and treatment monitoring follow-up once a year. Patients with residual fragments ≤ 4 mm have a spontaneous expulsion rate of 18-47% and a growth rate of 10-41% at 12 months, supporting annual imaging follow-up. Patients with residual fragments > 4 mm should be considered for surgical re-intervention based on the low spontaneous expulsion rate (13% at 1 year) and high risk of recurrence. Plain film KUB and/or kidney ultrasonography based on clinicians' preference and stone characteristics is the preferred imaging follow-up. Computed tomography should be considered if patient is symptomatic or intervention is planned. CONCLUSIONS: Based on evidence from the systematic review we propose, for the first time, a follow-up algorithm for patients after surgical stone treatment balancing the risks of stone recurrence against the burden of radiation from imaging studies.

Consultation on UTUC II Stockholm 2022: diagnostic and prognostic methods-what's around the corner?

PURPOSE: To map current literature and provide an overview of upcoming future diagnostic and prognostic methods for upper tract urothelial carcinoma (UTUC), including translational medical science. METHODS: A scoping review approach was applied to search the literature. Based on the published literature, and the experts own experience and opinions consensus was reached through discussions at the meeting Consultation on UTUC II in Stockholm, September 2022. RESULTS: The gene mutational profile of UTUC correlates with stage, grade, prognosis, and response to different therapeutic strategies. Analysis of pathway proteins downstream of known pathogenic mutations might be an alternative approach. Liquid biopsies of cell-free DNA may detect UTUC with a higher sensitivity and specificity than urinary cytology. Extracellular vesicles from tumour cells can be detected in urine and may be used to identify the location of the urothelial carcinoma in the urinary tract. 3D microscopy of UTUC samples may add information in the analysis of tumour stage. Chemokines and chemokine receptors were linked to overall survival and responsiveness to neoadjuvant chemotherapy in muscle-invasive bladder cancer, which is potentially also of interest in UTUC. CONCLUSION: Current diagnostic methods for UTUC have shortcomings, especially concerning prognostication, which is important for personalized treatment decisions. There are several upcoming methods that may be of interest for UTUC. Most have been studied for urothelial carcinoma of the bladder, and it is important to keep in mind that UTUC is a different entity and not all methods are adaptable or applicable to UTUC.

Consultation on UTUC II Stockholm 2022: diagnostics, prognostication, and follow-up-where are we today?

PURPOSE: To summarise the current knowledge regarding diagnostics, prognostication and follow-up in upper tract urothelial carcinoma (UTUC). METHODS: A scoping review combined with expert opinion was applied to provide an overview of the current research field. Based on the published literature and the experts' own experience and opinions, consensus was reached through presentations and discussions at the meeting Consultation on UTUC II in Stockholm 2022. RESULTS: The strongest prognostic factors in UTUC are tumour grade and stage. They are correlated, and grade is used for indirect staging. The diagnostic examinations should include multiphase computed tomography urography (CTU) with corticomedullary phase, and urethrocystoscopy with cytology. If there is no clear diagnosis for clinical decision-making, ureterorenoscopy (URS) with focal cytology and biopsies should be performed. Both WHO classification systems (1973/1999 and 2004/2016) should be used. Novel biomarker tests are not yet widespread nor recommended for the detection of UTUC. Long-term, regular follow-up, including URS in patients who have had organ-sparing treatment, is important to check for tumour recurrences, intravesical recurrences, metastases and progression of the tumour. CONCLUSION: Proper diagnostics with correct grading of UTUC are necessary for appropriate treatment decisions. The diagnostics should include CTU with corticomedullary phase, urine or bladder cytology, URS with focal barbotage cytology, and biopsies when needed for proper diagnosis and risk stratification. Regular, long-term follow-ups are fundamental, due to the high rate of recurrence and risk of progression.

Fournier's gangrene reconstruction: A 10-year retrospective analysis of practice at Guys and St Thomas's NHS Foundation Trust.

Fournier's gangrene is a rare and potentially fatal condition that affects the external genitalia and perineum as a necrotizing soft-tissue infection. It is equally prevalent in men and women and although there are many ways to manage the condition, it must be done so effectively because there is a chance that life-threatening complications could develop. This retrospective study set out to fill any knowledge gaps, compare reconstructive options to those described in the literature, and promote reflection on current management. Between January 2010 and January 2020, all perineal debridement operation notes were examined. The primary conclusions were that a large majority of defects could be repaired using split skin grafts to reduce surgical time and donor site morbidity. To avoid secondary contracture and the need for revision surgery, full-thickness skin grafts should be used whenever possible to treat penile defects.

Duration of Follow-up and Timing of Discharge from Imaging Follow-up, in Adult Patients with Urolithiasis After Surgical or Medical Intervention: A Systematic Review and Meta-analysis from the European Association of Urology Guideline Panel on Urolithiasis.

CONTEXT: No algorithm exists for structured follow-up of urolithiasis patients. OBJECTIVE: To provide a discharge time point during follow-up of urolithiasis patients after treatment. EVIDENCE ACQUISITION: We performed a systematic review of PubMed/Medline, EMBASE, Cochrane Library, clinicaltrials.gov, and reference lists according to the Preferred Reporting Items for Systematic Reviews and Meta-analyses statement. Fifty studies were eligible. EVIDENCE SYNTHESIS: From a pooled analysis of 5467 stone-free patients, we estimated that for a safety margin of 80% for remaining stone free, patients should be followed up using imaging, for at least 2 yr (radiopaque stones) or 3 yr (radiolucent stones) before being discharged. Patients should be discharged after 5 yr of no recurrence with a safety margin of 90%. Regarding residual disease, patients with fragments ≤4 mm could be offered surveillance up to 4 yr since intervention rates range between 17% and 29%, disease progression between 9% and 34%, and spontaneous passage between 21% and 34% at 49 mo. Patients with larger residual fragments should be offered further definitive intervention since intervention rates are high (24-100%). Insufficient data exist for high-risk patients, but the current literature dictates that patients who are adherent to targeted medical treatment seem to experience less stone growth or regrowth of residual fragments, and may be discharged after 36-48 mo of nonprogressive disease on imaging. CONCLUSIONS: This systematic review and meta-analysis indicates that stone-free patients with radiopaque or radiolucent stones should be followed up to 2 or 3 yr, respectively. In patients with residual fragments ≤4 mm, surveillance or intervention can be advised according to patient preferences and characteristics, while for those with larger residual fragments, reintervention should be scheduled. PATIENT SUMMARY: Here, we review the literature regarding follow-up of urolithiasis patients. Patients who have no stones after treatment should be seen up to 2-3 yr, those with large fragments should be reoperated, and those with small fragments could be offered surveillance with imaging.

Best Practice in Interventional Management of Urolithiasis: An Update from the European Association of Urology Guidelines Panel for Urolithiasis 2022.

PURPOSE: The European Association of Urology (EAU) has updated its guidelines on clinical best practice in urolithiasis for 2021. We therefore aimed to present a summary of best clinical practice in surgical intervention for patients with upper tract urolithiasis. MATERIALS AND METHODS: The panel performed a comprehensive literature review of novel data up to May 2021. The guidelines were updated and a strength rating was given for each recommendation, graded using the modified Grading of Recommendations, Assessment, Development, and Evaluations methodology. RESULTS: The choice of surgical intervention depends on stone characteristics, patient anatomy, comorbidities, and choice. For shockwave lithotripsy (SWL), the optimal shock frequency is 1.0-1.5 Hz. For ureteroscopy (URS), a postoperative stent is not needed in uncomplicated cases. Flexible URS is an alternative if percutaneous nephrolithotomy (PCNL) or SWL is contraindicated, even for stones >2 cm. For PCNL, prone and supine approaches are equally safe. For uncomplicated PCNL cases, a nephrostomy tube after PCNL is not necessary. Radiation exposure for endourological procedures should follow the as low as reasonably achievable principles. CONCLUSIONS: This is a summary of the EAU urolithiasis guidelines on best clinical practice in interventional management of urolithiasis. The full guideline is available at https://uroweb.org/guidelines/urolithiasis. PATIENT SUMMARY: The European Association of Urology has produced guidelines on the best management of kidney stones, which are summarised in this paper. Kidney stone disease is a common condition; computed tomography (CT) is increasingly used to diagnose it. The guidelines aim to decrease radiation exposure to patients by minimising the use of x-rays and CT scans. We detail specific advice around the common operations for kidney stones.

Long-term outcomes of outpatient laser ablation for recurrent non-muscle invasive bladder cancer: A retrospective cohort study.

Objectives: The objective of this study is to determine the long-term efficacy and safety of office-based Holmium:YAG laser ablation for the treatment of recurrent non-muscle-invasive bladder cancer (NMIBC). Methods: We retrospectively reviewed the medical records of all consecutive patients who underwent office-based laser ablation for recurrent bladder cancer between 2008 and 2016. The following data were collected: original histology, date of original histology, date of laser ablation, number of repeat laser ablation procedures required, date of tumor recurrence or progression, number of general anesthesia procedures (transurethral resection or cystodiathermy) required after first laser ablation, and number and severity of complications. Kaplan-Meier survival curves were produced for recurrence-free survival, progression-free survival, and overall survival. Results: A total of 97 patients, with an average age of 84 (62-98) years and an average Charlson Comorbidity Index of 6.9 (4-13), were included. The median follow-up was 61 (2-150) months. Fifty-five (56.7%) patients presented with tumor recurrence, and the median recurrence-free survival time was 1.69 years (95% CI 1.20-2.25). Only 9 (9.3%) patients had evidence of tumor progression to a higher grade or stage, 8 (89%) of which initially had low-grade tumors; however, no patient progressed to muscle-invasive disease. The median progression-free survival time was 5.70 years (95% CI 4.10-7.60), and the median overall survival time was 7.60 years (95% CI 4.90-8.70). No patient required emergency inpatient admission after laser ablation. Conclusion: Office-based Holmium:YAG laser ablation offers a safe and effective alternative method for treating low-volume, low-grade recurrent NMIBC, especially in elderly patients with significant co-morbidity, while avoiding general anesthesia and inpatient admission.

Cystinuria: clinical practice recommendation.

Cystinuria (OMIM 220100) is an autosomal recessive hereditary disorder in which high urinary cystine excretion leads to the formation of cystine stones because of the low solubility of cystine at normal urinary pH. We developed clinical practice recommendation for diagnosis, surgical and medical treatment, and follow-up of patients with cystinuria. Elaboration of these clinical practice recommendations spanned from June 2018 to December 2019 with a consensus conference in January 2019. Selected topic areas were chosen by the co-chairs of the conference. Working groups focusing on specific topics were formed. Group members performed systematic literature review using MEDLINE, drafted the statements, and discussed them. They included geneticists, medical biochemists, pediatric and adult nephrologists, pediatric and adult urologists experts in cystinuria, and the Metabolic Nephropathy Joint Working Group of the European Reference Network for Rare Kidney Diseases (ERKNet) and eUROGEN members. Overall 20 statements were produced to provide guidance on diagnosis, genetic analysis, imaging techniques, surgical treatment (indication and modalities), conservative treatment (hydration, dietetic, alkalinization, and cystine-binding drugs), follow-up, self-monitoring, complications (renal failure and hypertension), and impact on quality of life. Because of the rarity of the disease and the poor level of evidence in the literature, these statements could not be graded. This clinical practice recommendation provides guidance on all aspects of the management of both adults and children with cystinuria, including diagnosis, surgery, and medical treatment.

Consultation on kidney stones, Copenhagen 2019: lithotripsy in percutaneous nephrolithotomy.

PURPOSE: To evaluate the balance between existing evidence and expert opinions on the safety and efficacy of new technological improvements in lithotripsy techniques for percutaneous nephrolithotomy (PCNL). METHODS: A scoping review approach was applied to search literature in Pubmed, Embase, and Web of Science. Consensus by key opinion leaders was reached at a 2-day meeting entitled "Consultation on Kidney Stones: Aspects of Intracorporeal Lithotripsy" held in Copenhagen, Denmark, in September 2019. RESULTS: New-generation dual-mode single-probe lithotripsy devices have shown favourable results compared with use of ballistic or ultrasonic lithotripters only. However, ballistic and ultrasonic lithotripters are also highly effective and safe and have been the backbone of PCNL for many years. Compared with standard PCNL, it seems that mini PCNL is associated with fewer bleeding complications and shorter hospital admissions, but also with longer operating room (OR) time and higher intrarenal pressure. Use of laser lithotripsy combined with suction in mini PCNL is a promising alternative that may improve such PCNL by shortening OR times. Furthermore, supine PCNL is a good alternative, especially in cases with complex renal stones and large proximal ureteric stones; in addition, it facilitates endoscopic combined intrarenal surgery (ECIRS). CONCLUSION: Recent technological improvements in PCNL techniques are promising, but there is a lack of high-level evidence on safety and efficacy. Different techniques suit different types of stones and patients. The evolution of diverse methods has given urologists the possibility of a personalized stone approach, in other words, the right approach for the right patient.

Non-contrast computed tomography characteristics in a large cohort of cystinuria patients.

PURPOSE: Cystine stones are widely considered hard and difficult to treat. Hounsfield Units (HU) are used in other stone types to estimate 'hardness' and treatments based on that finding. Our objective was to report mean HU of cystine stones in vivo in a large case series of cystinuria patients and assess for differences in genotype. METHODS: A prospective case series of cystinuria patients referred to a specialist centre was analysed. CT imaging was assessed by two independent radiologists to determine in vivo attenuation of cystine calculi. Mean HU was compared for both cystinuria genes (SLC3A1 and SLC7A9) using an independent t-test. RESULTS: 164 adult cystinuric patients were identified (55% male), median age 43 years (range 18-80). Median follow up was 31 months (IQR 10-62). Genetic data available for 153/164 (93%) demonstrated 97 SLC3A1 (63%) and 55 (36%) SLC7A9 mutations (39 homozygous, 16 heterozygous) and one heterozygous for both SLC3A1/SLC7A9. 107 patients had CT images available demonstrating calculi. Median HU across the cohort was 633 (5th to 95th centile 328-780). There was no difference in mean HU between SLC3A1 and SLC7A9 genotypes (p = 0.68) or homo and heterozygous SLC7A9 (p = 0.70). Mean HU correlated with stone size (Pearson correlation coefficient = 0.51, p < 0.001). CONCLUSION: In this large single centre cystinuria cohort, mean HU was low for stones that are difficult to treat. Calculi of < 800 HU should prompt consideration of a cystinuria diagnosis. Attenuation was not associated with genotype, and distinct 'smooth' and 'rough' stones were not observed. Calculi with HU > 1000 are unlikely pure cystine, and in a known cystinuric would suggest conversion to another stone type.