Scientia, Dipòsit d’Informació Digital del Departament de Salut
Not a member yet
12576 research outputs found
Sort by
European standard clinical practice recommendations for children and adolescents with Rhabdomyosarcoma a joint EpSSG, CWS and ERN PaedCan project
Get PDFRhabdomyosarcoma; Treatment recommendations; Pediatric oncologyRabdomiosarcoma; Recomendaciones de tratamiento; Oncología pediátricaRabdomiosarcoma; Recomanacions de tractament; Oncologia pediàtricaRhabdomyosarcoma (RMS) is a heterogeneous group of malignancies with specific histopathological characteristics. Distinct molecular findings help to classify RMS into PAX::FOXO1 fusion gene positive and fusion gene negative subtypes. Further new molecular subtypes give insight into the heterogeneity of these rare tumours. Multiple international clinical trials have been conducted to improve the prognosis for paediatric, adolescent, and young adult patients with RMS. The overall cure rate is around 70 % but varies dramatically between the low risk localised and very high-risk metastatic patients. New treatment approaches are needed in the High-Risk and Very High-Risk RMS disease to improve patients’ outcome. State of the art diagnostics and staging is crucial and the multimodal treatment approach in specialized paediatric-oncology centres is highly recommended. Treatment includes chemotherapy with vincristine, actinomycin, and ifosfamide with or without anthracyclines. Local treatment with the aim of microscopically complete resection and/or radiotherapy is warranted depending on patient and tumour characteristics. Maintenance treatment is recommended to (Very) High Risk groups. This consensus summarizes the standard of care diagnostic work up, multimodal treatment and surveillance recommendations for paediatric, adolescent, and young adult patients with RMS. The guideline was developed as a joint project by the European paediatric Soft tissue sarcoma Study Group (EpSSG) and the Cooperative Weichteilsarkom Studiengruppe (CWS) summarized as the European RMS working group supported by European Reference Network on Paediatric Cancer (ERN PaedCan)
A comparison of real-world data on adjuvant treatment in patients with stage III BRAF V600 mutated melanoma - Results of systematic literature research
Get PDFCheckpoint inhibitors; Overall survival; Targeted therapyInhibidores de puntos de control; Supervivencia global; Terapia dirigidaInhibidors de punts de control; supervivència global; Teràpia dirigidaBackground
Over the past decade, PD-1-based immune checkpoint inhibitors (ICI) and targeted therapies (TT) with BRAF and MEK inhibitors transformed melanoma treatment. Both are widely used in the adjuvant setting. However, for patients with a BRAF V600 mutation, the optimal adjuvant therapy remains unclear due to the lack of head-to-head comparison studies.
Methods
We conducted a systematic review of real-world data on adjuvant therapy in stage III melanoma to determine the best option for patients with BRAF V600 mutations. Kaplan-Meier curves were generated for TT and ICI using Digitizelt software.
Results
Nine publications with 3625 patients were included. TT showed better relapse-free survival (RFS) at 6, 12, 24, and 36 months than ICI. A similar trend was observed for distant metastasis-free survival (DMFS), with no apparent difference in overall survival.
Conclusion
Real-world data suggest that adjuvant TT may be associated with better RFS and DMFS in stage III BRAF V600-mutated melanoma compared to ICI
Impact of Treatment With Trifluridine/Tipiracil in Combination With Bevacizumab on Health-Related Quality of Life and Performance Status in Refractory Metastatic Colorectal Cancer: An Analysis of the Phase III SUNLIGHT Trial
Get PDFChemotherapy; Patient-reported outcomes; VEGF inhibitorQuimioteràpia; Resultats informats pels pacients; Inhibidor de VEGFQuimioterapia; Resultados informados por los pacientes; Inhibidor de VEGFBackground: The efficacy of trifluridine/tipiracil (FTD/TPI) + bevacizumab compared to FTD/TPI for treatment of refractory metastatic colorectal cancer (mCRC) was demonstrated in the SUNLIGHT trial. This analysis of SUNLIGHT investigated the impact of treatment with FTD/TPI + bevacizumab on patient quality of life (QoL) and Eastern Cooperative Oncology Group performance status (ECOG PS).
Methods: Questionnaires (EORTC QLQ-C30 and EQ-5D-5L) and ECOG PS assessments were conducted at baseline and on Day 1 of each treatment cycle. Time to definitive deterioration (TTDD) of QoL and time to ECOG PS worsening between treatment arms was assessed. A repeated-measures mixed-effects model was used to compare changes in QoL and ECOG PS from baseline. Kaplan-Meier and Cox regression methods were used to assess TTDD of QoL, time to ECOG PS worsening to ≥ 2, and overall survival (OS) and progression-free survival (PFS) in patients maintaining an ECOG PS of 0-1.
Results: Both treatment arms showed similar QoL scores from baseline to cycle 6, with no clinically relevant change over time. Patients receiving FTD/TPI + bevacizumab had a longer TTDD of QoL than patients receiving FTD/TPI, as well as longer time to ECOG PS worsening. In patients with maintained ECOG PS, median OS and PFS was prolonged in the FTD/TPI + bevacizumab arm compared to the FTD/TPI arm.
Conclusion: This analysis of SUNLIGHT showed that patients treated with FTD/TPI + bevacizumab had no clinically relevant changes in QoL, and prolonged TTDD and time to ECOG PS worsening, compared to patients treated with FTD/TPI
Failure rates and complications of four sphincter-sparing techniques for the treatment of fistula-in-ano: a systematic review and network meta-analysis
Get PDFAnal fistula; Complications; Endoanal flapFístula anal; Complicaciones; Colgajo endoanalFístula anal; Complicacions; Empelt endoanalBackground
Several techniques are available to reduce the risk of sphincter injury when treating anal fistula, such as ligation of the intersphincteric fistula tract (LIFT), video-assisted anal fistula treatment (VAAFT), fistula laser closure (FiLaC) and endoanal flap (EAF). The aim of this meta-analysis is to provide data on the safety, complications and failure of these techniques.
Methods
Studies published after 2017, with patients undergoing at least one among LIFT, VAAFT, FiLaC and EAF for perianal fistula and providing data regarding failure, were retrieved from PubMed and EMBASE. Primary outcome was failure; other outcomes included continence disturbance and complications.
Results
Forty-nine articles with 3520 patients were included. The failure rates were 28.6% (range 3.8–75) for LIFT, 22.3% (6.2–65.2) for VAAFT, 43.9% (11.1–80) for FiLaC and 25.9% (4.7–100) for EAF, with a mean follow-up of 35.4 (6–80.4), 32.4 (6–48), 31.6(6.3–60) and 42.4 (12–155) months. The available network meta-analysis on failure showed RD of –0.08 (95% CI − 0.58 to 0.42) comparing LIFT vs VAAFT and 0.30 (95% CI 0.03 to 0.58) comparing LIFT vs EAF. No patients undergoing VAAFT or FiLaC reported worsening continence, while for LIFT and EAF, the continence disturbance rate was 1.5% and 7.3%, respectively. No major complications were observed. The most common minor complications were pain (1.4%), bleeding (1.1%) and wound infection (1.2%). Overall, minor complication rates were 4.3% for LIFT, 7.2% for VAAFT, 10.2% for FiLaC and 6.2% for EAF. Crohn's disease was associated with a higher failure rate (39.5% vs 31.4%).
Conclusions
FiLaC, VAAFT, LIFT and EAF may represent a valid option in the treatment of anal fistula. VAAFT showed the lowest rate of failure but with no differences from network metanalysis. Wider homogeneous studies with long-term follow-up are necessary to obtain more robust data.
PROSPERO number
CRD42022375600.Open Access Funding provided by Universitat Autonoma de Barcelona
Elective Discontinuation of Larotrectinib in Pediatric Patients With TRK Fusion Sarcomas and Related Mesenchymal Tumors
Get PDFPediatric patients; Sarcomas; Mesenchymal tumorsPacients pediàtrics; Sarcomes; Tumors mesenquimalsPacientes pediátricos; Sarcomas; Tumores mesenquimalesLarotrectinib is a highly selective tropomyosin receptor kinase (TRK) inhibitor with efficacy in children with TRK fusion tumors. We evaluated patient outcomes after elective discontinuation of larotrectinib in the absence of disease progression in a protocol-defined wait-and-see subset analysis of eligible patients where treatment resumption with larotrectinib was allowed if disease progressed. We also assessed the safety and efficacy of larotrectinib in all pediatric patients with sarcoma. This cohort included 91 patients (younger than 18 years) from two clinical trials: infantile fibrosarcoma (49), other soft tissue sarcomas or related mesenchymal tumors (41), and bone sarcoma (1). Treatment-related adverse events were of maximum grade 1 or 2 in 25% and 25% of patients, respectively. The overall response rate was 87% (95% CI, 78 to 93). In the wait-and-see analysis, 47 patients discontinued larotrectinib. Median time from discontinuation to disease progression was not reached. Sixteen patients had tumor progression during the wait-and-see period. All 16 patients resumed larotrectinib, and 15 (94%) achieved disease control, with 11 objective responses. Larotrectinib continues to demonstrate durable responses with favorable safety in children with TRK fusion sarcomas. Treatment discontinuation is feasible in select patients with objective response and clinical benefit noted in those who have disease progression after elective treatment discontinuation.Supported by Bayer Healthcare and Loxo Oncology, Inc, a wholly owned subsidiary of Eli Lilly and Company. S.G.D. was supported by Alex's Lemonade Stand Foundation. J.C. was supported by the Giant Pledge through the Royal Marsden Cancer Charity, and this work represents independent research supported by the National Institute for Health Research Biomedical Research Center at The Royal Marsden NHS Foundation Trust and the Institute of Cancer Research, London
CAPI-Detect: machine learning in capillaroscopy reveals new variables influencing diagnosis
Get PDFMachine learning-based model; Nailfold capillaroscopy; Systemic sclerosisModel basat en aprenentatge automàtic; Capil·laroscòpia del plec ungueal; Esclerosi sistèmicaModelo basado en aprendizaje automático; Capilaroscopia del lecho ungueal; Esclerosis sistémicaObjectives Nailfold videocapillaroscopy (NVC) is the gold standard for diagnosing SSc and differentiating primary from secondary RP. The CAPI-Score algorithm, designed for simplicity, classifies capillaroscopy scleroderma patterns (CSPs) using a limited number of capillary variables. This study aims to develop a more advanced machine learning (ML) model to improve CSP identification by integrating a broader range of statistical variables while minimizing examiner-related bias. Methods A total of 1780 capillaroscopies were randomly and blindly analysed by three to four trained observers. Consensus was defined as agreement among all but one observer (partial consensus) or unanimous agreement (full consensus). Capillaroscopies with at least partial consensus were used to train ML-based classification models using CatBoost software, incorporating 24 capillary architecture-related variables extracted via automated NVC analysis. Validation sets were employed to assess model performance. Results Of the 1490 capillaroscopies classified with consensus, 515 achieved full consensus. The model, evaluated on partial and full consensus datasets, achieved 0.912, 0.812 and 0.746 accuracy for distinguishing SSc from non-SSc, among SSc patterns, and between normal and non-specific patterns, respectively. When evaluated on full consensus only, accuracy improved to 0.910, 0.925 and 0.933. CAPI-Detect outperformed CAPI-Score, revealing novel capillary variables critical to ML-based classification. Conclusions CAPI-Detect, an ML-based model, provides an unbiased, quantitative analysis of capillary structure, shape, size and density, significantly improving capillaroscopic pattern identification
Efficacy and Safety of Ab Externo Open Conjunctiva XEN® 63 µm Implantation with a 30G Needle Scleral Tract in Primary Open-Angle Glaucoma
Get PDFIntraocular surgery; Minimally invasive glaucoma surgery; Primary open-angle glaucomaCirurgia intraocular; Abordatge conjuntival obert; Glaucoma primari d'angle obertCirugía intraocular; Abordaje conjuntival abierto; Glaucoma primario de ángulo abiertoBackground: This study aimed to assess the efficacy and safety of the 30G needle mediated ab externo open conjunctiva approach for the XEN 63 µm implant in primary open-angle glaucoma. Methods: A retrospective and non-randomized study was conducted on consecutive cases of medically refractory primary open-angle glaucoma treated with standalone ab externo open conjunctiva XEN® 63 µm (North Chicago, Illinois) with one-year follow-up. Results: Twenty-two eyes were included. The mean preoperative intraocular pressure was 21.9 ± 7.2 mmHg, and the mean number of glaucoma medications was 2.4 ± 0.9. All patients underwent mitomycin 0.02% application for 2 min, and Healaflow® (MedicalMix, Spain), was implanted in 11 cases (50%). Complete surgical success was achieved in 14 cases (63.6%). No statistical differences in complete surgical success were noted based on the use of Healaflow®. A significant reduction in intraocular pressure (11.8 ± 3.4 mmHg) and in the number of hypotensive medications (0.2 ± 0.5 mmHg) was observed 1 year after the procedure. Transient hypotony was detected in 31.8% of cases. Complications secondary to hypotony included four cases of serous choroidal detachment and one case of localized hemorrhagic choroidal detachment, the latter associated with hypotonic keratopathy and hypotonic maculopathy. All these complications evolved favorably with conservative management and adjusted topical treatment. Conclusions: This study highlights the efficacy and safety of this approach for the XEN 63 µm implant in medically refractory primary open-angle glaucoma
Precision Oncology: A Global Perspective on Implementation and Policy Development
Get PDFPrecision Oncology; Policy developmentOncología de precisión; Desarrollo de políticasOncologia de precisió; Desenvolupament de polítiquesDespite the acknowledged merits of precision oncology (PO) and its increasing global implementation, its full potential for advancing care and prevention remains unrealized. The benefits are currently accessible to only limited patient segments because of multifaceted barriers. Successful implementation hinges on various factors—scientific complexities not limited to technical, clinical, regulatory, economic, administrative, and health care policy–related challenges. From building infrastructure to the associated costs, including research and development, testing, processing, and trained personnel, a lack of alignment persists. Administrative alignment with regulatory and payor acceptance is crucial. Health care policy must adapt to the ongoing shift from a one-size-fits-all treatment to a personalized approach. Without official endorsement of long-term gains over short-term costs and the health establishment's readiness for innovation, PO prospects, even in prosperous economies, may stagnate. Lower-income countries face exacerbated challenges, intensifying barriers to adoption. Nevertheless, growing awareness and utilization, driven by recognized potential for patients and public health, along with successful examples and advocacy, are progressively influencing policy for a more inclusive and beneficial approach to PO adoption
Retinal structure and its relationship with premorbid, clinical, and cognitive variables in young Spanish patients with early course schizophrenia spectrum disorders
Get PDFRetina; Schizophrenia spectrum; TomographyRetina; Espectre de l'esquizofrènia; TomografiaRetina; Espectro de la esquizofrenia; TomografíaEmerging evidence suggests that retinal structural alterations are present in schizophrenia spectrum disorders (SSD), potentially reflecting broader neurodevelopmental and neurodegenerative processes. This cross-sectional study investigates retinal thickness and its clinical correlations in a sample of early-course SSD patients compared to healthy controls (HCs). One hundred-two eyes from 26 SSD cases and 25 age- and sex-matched HCs were included. Retinal structure was evaluated using Spectral-Domain Optical Coherence Tomography (SD-OCT), focusing on the peripapillary retinal nerve fiber layer (pRNFL), macular volume/thickness, and ganglion cell-inner plexiform layer (GCL+IPL) thickness. Although SSD cases showed increased peripapillary retinal nerve fiber layer (pRNFL) thickness in specific quadrants, most retinal parameters did not differ significantly between groups. Preliminary associations were observed between retinal measures, premorbid adjustment, DUP, and cognitive performance. These findings, while suggesting the potential of retinal imaging as a tool for early detection and monitoring of psychotic disorders, must be interpreted with caution. Further longitudinal and multimodal research is warranted to explore the association between these retinal changes and neuroinflammation, neurodegeneration, and overall brain health in SSD patients.JMG is funded by Ministerio de Ciencia y Tecnología – Colombia (Grant 885/2020). SA thanks the support of the Spanish Ministry of Innovation and Science (PI24/00671), funded by the Instituto de Salud Carlos III and cofinanced by the European Union (FEDER) “Una manera de hacer Europa”. MFF received the support of a “Contratos predoctorales de formación en investigación en salud (PFIS22) (FI22/00185) from the Instituto de Salud Carlos III (ISCIII). CT would like to thank Instituto de Salud Carlos III (ISCIII), PI17/01066, PI20/00344, PI24/00407, and co-funded by the European Union
Improving HCV Screening in Addiction Care Centers with Plasma Separation Cards
Get PDFFinger prick; Hepatitis C infection; Intravenous drug usersPunxada al dit; Infecció per hepatitis C; Consumidors de drogues intravenosesPinchazo en el dedo; Infección por hepatitis C; Consumidores de drogas intravenosasGlobally, 50 million people are infected with hepatitis C virus (HCV), many of whom are people who inject drugs. These individuals face healthcare barriers, necessitating innovative diagnostic tools. This study evaluated the impact of cobas plasma separation cards (PSCs) for dry plasma collection in Barcelona's outpatient drug addiction centers (CAS). From February to December 2021, nine CASs were invited to implement PSC for HCV screening; three centers participated, allowing for the assessment of its impact on HCV detection. Of the 679 clients screened, 54 (8%) provided finger-prick blood samples via PSC due to their refusal or inability to undergo venipuncture. Overall, 100 (14.7%) clients tested positive for HCV antibodies, with 24 (24%) confirmed as HCV-RNA positive. Among venipuncture clients, 9.1% had positive antibodies, with 15.8% showing active infection. In contrast, 79.6% of PSC clients had positive antibodies and 34.9% had detectable HCV RNA, contributing to 62.5% of the active infections detected. The odds ratio was 26.3, indicating that refusal or inability to undergo venipuncture correlated with a significantly higher burden of active HCV infection. The findings highlight PSC as a valuable alternative for diagnosing HCV in people with substance use disorders, addressing accessibility barriers and improving linkage to care in high-risk populations.This work was supported by a microelimination grant of Gilead Science (GLD19-0104). The funders had no role in the study design, data collection and analysis, decision to publish, or preparation of the manuscript