Hospital Beatriz Ângelo

Metastatic urothelial carcinoma (mUC) is a lethal cancer with limited therapeutic options. Advances in genomic and transcriptomic research have deepened the understanding of mUC biology, leading to the identification of clinically relevant molecular alterations that represent potential actionable targets. This has broadened the treatment landscape of the disease to include novel agents, such as antibody-drug conjugates (e.g., enfortumab vedotin) and targeted therapies, including the pan-fibroblast growth factor receptor (FGFR) inhibitor erdafitinib. Genomic alterations in FGFR3 are well-established oncogenic drivers in bladder cancer and represent predictive biomarkers of response to FGFR-targeted therapies. The phase III THOR trial demonstrated the clinical benefit of erdafitinib in previously treated mUC patients harboring FGFR3 alterations and supported its subsequent approval by the European Medicines Agency. In this context, accurate molecular profiling is essential to guide patient selection for FGFR inhibitor therapy. Equally important is the standardization and timely implementation of FGFR3 testing in clinical practice to optimize treatment planning. This review addresses key considerations in FGFR3 testing in mUC and discusses how it can be routinely incorporated into clinical practice.

Abstract PORCSE studygroup: Anneline Cremer (Erasme University Hospital Department of Gastroenterology Brussels Belgium) João A. Cunha Neves (ULS-Algarve Department of Gastroenterology Portimão Portugal) Andreas Kapsoritakis (University Hospital of Larissa IBD unit- Department of Gastroenterology Larissa Greece) Mircea Diculescu (Faculty of Medicine- Carol Davila University of Medicine and Pharmacy- Fundeni Clinical Institute Department of Gastroenterology Bucharest Romania) Lieven Pouillon (Imelda Hospital Bonheiden Department of Gastroenterology and Hepatology Bonheiden Belgium) Ioannis E. Koutroubakis (University Hospital Heraklion Department of Gastroenterology Heraklion- Crete Greece) Laura Nieto (Hospital Clinico Universitario de Santiago de Compostela- Health Research Institute of Santiago de Compostela IDIS Gastroenterology Compostela Spain) Sophie Claeys (AZ Sint-Lucas Department of Gastroenterology Ghent Belgium) Iago Rodríguez-Lago (Hospital Universitario de Galdakao- Biobizkaia Health Research Institute Department of Gastroenterology Galdakao Spain) Pauline Rivière (Bordeaux University Hospitals Department of Gastroenterology Bordeaux France) Serkan Dumanli (Gazi University Department of Gastroenterology Ankara Turkey) Francisco Portela (ULS de Coimbra Department of Gastroenterology Coimbra Portugal) Ian Arnott (Western General Hospital IBD unit Edinburgh United Kingdom) Pinelopi Nikolaou (Venizeleio General Hospital Department of Gastroenterology Heraklion Greece) Joana Revés (Hospital Beatriz Ângelo Division of Gastroenterology- ULS Loures-Odivelas Loures Portugal) Inês Botto (Unidade local de saúde de santa maria- Clinica Universitária de Gastroenterologia- Faculdade de Medicina de Lisboa Servico Gastroenterologia e Hpatologia Lisbon Portugal) Margalida Calafat (Hospital Universitari Germans Trias i Pujol and CIBEREHD Gastroenterology Badalona Spain) Background The retrospective, multicentric, observational PORCSE study evaluated postoperative recurrence of Crohn’s disease after ileocaecal resection. Early medical prophylaxis (proactive strategy, cohort1) was found to have lower rates of endoscopic (Rutgeerts >i1) and clinical postoperative recurrence compared to expectant management (reactive strategy, cohort2) at first endoscopic evaluation. In this analysis from a subgroup of the PORCSE population, long term outcomes of these 2 strategies are explored. Methods A subgroup analysis was performed in patients with extended follow-up beyond the timeframe of the original PORCSE study (Fig1). Primary endpoints were surgical (sPOR) and clinical (cPOR) recurrence. Endoscopic disease activity and progression were evaluated as secondary endpoints. Progression was defined as an increase in Rutgeerts score (>i1) and/or development of colon inflammation from first to consecutive postoperative endoscopies. Logistic regression models with propensity score matching were fitted to adjust for confounding factors in comparing the proactive and reactive strategy. Results For 92.2% of the 346 originally included patients, a mean additional follow-up duration of 38.5months (SD24.5) was available (mean total follow-up 110.9months, SD44.8). sPOR and cPOR rate was numerically higher with the reactive strategy. However these differences were not statistically significant (sPOR: cohort1:13.2%, cohort2:18.2%; OR1.78, 95%CI 0.73-4.34, P = 0.202 - cPOR: cohort1: 39.3%, cohort2:49.7%; OR1.73, 95%CI 0.92-3.24, P = 0.089). No difference was found in IBD-related hospitalisation rate (cohort1: 10.8%, cohort2: 10.1%; OR 1.48, 95%CI 0.53-4.18, P = 0.457). Survival analysis did not show a significant difference for time to sPOR (HR1.34, 95% CI 0.59-3.06, P = 0.485) nor in time to cPOR (HR1.28, 95%CI 0.35-4.66, P = 0.713). Rates of endoscopic disease activity (Rutgeerts>i1 and/or colonic inflammation) at consecutive endoscopies after initial postoperative endoscopy did not differ (cohort1:59.2%, cohort2:57.8%, OR0.70, 95%CI 0.31-1.57, P = 0.381). Univariate analysis revealed a higher rate of endoscopic progression with a proactive strategy (cohort1: 20.6%, cohort2: 10.6%, P = 0.041). However, after correction for confounders this difference was no longer significant (OR2.44, 95%CI 0.92-6.48, P = 0.073). Conclusion In this large subgroup of patients with extended follow-up from the original PORCSE study, proactive medical prophylaxis after ileocaecal resection showed no statistically significant differences compared with a reactive approach in reducing the rate of surgical and clinical posoperative recurrence, despite a numerical trend. Further prospective studies and larger cohorts are required to confirm these findings.

Although lipomas are the most common benign soft tissue tumor, very few cases of true intra-articular lipomas have been described. They are usually small in size and located at the knee. The differential diagnosis of an intra-articular lipomatous mass is made between lipoma arborescens and synovial lipoma. We report a case of a true intra-articular lipoma of the knee in a 60-year-old woman who presented with knee pain and a large anteromedial mass. The magnetic resonance imaging (MRI) confirmed the presence of a well-delineated fat-containing mass, and the lipoma was excised by a standard medial arthrotomy. After two years, the patient reported no limitation in her daily life.

Abstract Background and Aims Reactive perforating collagenosis (RPC) is a rare dermatological condition characterized by transepidermal elimination of extracellular matrix components, particularly damaged collagen, often triggered by trauma, degeneration, or inflammation. The acquired form of RPC typically occurs in adulthood and is commonly associated with systemic conditions such as diabetes mellitus, chronic kidney disease (CKD), and certain malignancies, making its recognition crucial in patients with these underlying diseases. Method We report a clinical case of RPC diagnosed in a patient with CKD, highlighting the importance of accurate diagnosis for effective therapeutic management. Results A 48-year-old Caucasian woman, who works as a preschool teacher, with the diagnosis of CKD stage 5D due to autosomal dominant polycystic kidney disease (ADPKD), has been on peritoneal dialysis since June of 2022. Her medical history includes long-standing hypertension treated with irbesartan, a surgically and endovascularly managed cerebral aneurysm in 2006, and a history of preeclampsia and HELLP syndrome during pregnancies (G5P5). She also has a family history of ADPKD (mother and two sisters). Current medications include esomeprazole, acetylsalicylic acid, sertraline, epoetin beta, folic acid, sevelamer, cinacalcet, cholecalciferol, calcitriol, and lactulose. In December of 2023, she presented with multiple 1–2 mm hyperkeratotic pruritic micropapules symmetrically distributed on the extensor surfaces of her lower limbs. The onset of the lesions coincided with the initiation of atorvastatin therapy, which was discontinued without clinical improvement. A referral to Dermatology led to a skin biopsy that confirmed the diagnosis of RPC. Treatment was started with acitretin 10 mg, allopurinol 100 mg, and emollients, resulting in initial improvement. However, the emergence of new and bigger ulcerated lesions (Fig. 1) prompted a multidisciplinary discussion, leading to the decision to initiate phototherapy, which successfully reduced lesions and alleviated pruritus (Fig. 2). Conclusion This case underscores the importance of recognizing RPC as a rare but clinically significant skin disorder, particularly in patients with systemic illnesses like CKD. While uncommon, its association with systemic diseases highlights the need for a multidisciplinary approach. After excluding potential drug-induced causes, a skin biopsy proved essential for an accurate diagnosis. Targeted treatment, including systemic and topical therapies, combined with phototherapy, allowed for significant symptom management. By alleviating the debilitating pruritus and improving the patient's quality of life, this case demonstrates the importance of early diagnosis and individualized management in the treatment of RPC.

The World Health Organization identified 13 critical threats to global health for the coming decade, including infectious disease prevention and antimicrobial resistance. Given the ongoing advancements in scientific evidence, it is imperative to discuss the Infectious Diseases training program. The aim of this study was to characterize and explore the respondents' perceptions regarding Infectious Diseases training and the clinical learning environment. A survey was developed to assess the clinical learning environment, targeting residents and young specialists who completed their training within the past five years. The questionnaire received 73 responses, 75.3% from residents. Most respondents agreed with the duration of Internal Medicine (83.5%), Microbiology (76.7%), and General Infectious Diseases (71.2%) rotations, but considered that the Intensive Care rotation should last less than six months. The areas of Infection Control/Antibiotic Stewardship and Immunosuppression/Infectious Risk were suggested as mandatory rotations by 84.9% and 65.8% of participants, respectively. Most respondents (67.1%) considered prolonged Internal Medicine Emergency rotations beyond the first year detrimental. In contrast, 84.6% of ARS Norte participants only performed this activity during the first year, whereas 86.8% of ARS LVT participants continued, at least, until the fourth year. Regarding clinical and scientific output, ARS Norte interns reported, on average, higher numbers of weekly assisted (21.7 vs 17.1) and performed (20.8 vs 17.7) appointments, as well as higher annual participation (3.7 vs 3.1) and presentations (2.8 vs 2.4) in scientific events, published articles (1.1 vs 0.6), and weekly study hours (7.4 vs 4.5), compared with ARS LVT. The main challenges reported were a lack of dedicated study time during working hours, scientific updates, and clinical practice in Internal Medicine Emergency rotations. Regarding the evaluation of the residency program, only 2.7% agreed completely with the current exam model and 1.37% with the current curriculum grid. The majority (64.4%) of participants considered themselves at least satisfied with the specialty. The results suggest a need to review the Infectious Diseases training program, include new areas of specialization, and discuss evaluation models throughout residency. Regional asymmetries were observed in emergency work, clinical and scientific output, which affect the equity and quality of training. Discussion of the Infectious Diseases training program is crucial for adapting the curriculum to current and future challenges.