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Peer reviewed: True, Acknowledgements: The authors thank the survey participants for their generous contribution of time and effort. We also thank our contact persons for their essential support in making the distribution of the survey possible., BACKGROUND: There is no clear guidance on how to implement opportunistic atrial fibrillation (AF) screening in daily clinical practice. OBJECTIVES: This study evaluated the perception of general practitioners (GPs) about value and practicalities of implementing screening for AF, focusing on opportunistic single-time point screening with a single-lead electrocardiogram (ECG) device. METHODS: A descriptive cross-sectional study was conducted with a survey developed to assess overall perception concerning AF screening, feasibility of opportunistic single-lead ECG screening and implementation requirements and barriers. RESULTS: A total of 659 responses were collected (36.1% Eastern, 33.4% Western, 12.1% Southern, 10.0% Northern Europe, 8.3% United Kingdom & Ireland). The perceived need for standardized AF screening was rated as 82.7 on a scale from 0 to 100. The vast majority (88.0%) indicated no AF screening program is established in their region. Three out of four GPs (72.1%, lowest in Eastern and Southern Europe) were equipped with a 12-lead ECG, while a single-lead ECG was less common (10.8%, highest in United Kingdom & Ireland). Three in five GPs (59.3%) feel confident ruling out AF on a single-lead ECG strip. Assistance through more education (28.7%) and a tele-healthcare service offering advice on ambiguous tracings (25.2%) would be helpful. Preferred strategies to overcome barriers like insufficient (qualified) staff, included integrating AF screening with other healthcare programs (24.9%) and algorithms to identify patients most suitable for AF screening (24.3%). CONCLUSION: GPs perceive a strong need for a standardized AF screening approach. Additional resources may be required to have it widely adopted into clinical practice.

Cribado neonatal; Sepsis neonatal de inicio precoz; Hemocultivo Neonatal screening; Neonatal early-onset sepsis; Blood culture Cribratge neonatal; Sèpsia neonatal d'inici precoç; Hemocultiu Introduction Early-onset neonatal sepsis (EONS) can cause significant morbidity and mortality, especially if it is not detected early. Given the decrease in its incidence in the past few decades, it is important to find a balance between reducing the use of diagnostic tests and continuing to detect affected patients. We compared 3 detection strategies in patients with risk factors (RFs) for infection: laboratory screening (S1), the Neonatal Sepsis Risk Calculator (S2) and clinical observation (S3). Patients and methods Retrospective observational study in neonates born at 34 weeks of gestation or later and with RFs or symptoms compatible with EONS. We analysed outcomes in our unit with the use of laboratory screening (S1) and compared them with the other two strategies (S2 and S3) to contemplate whether to modify our protocol. Results The study included 754 patients, and the most frequent RFs were prolonged rupture of membranes (35.5%) and maternal colonization by Streptococcus agalactiae (38.5%). Strategies S2 and S3 would decrease the performance of laboratory tests (S1, 56.8% of patients; S2, 9.9%; S3, 22.4%; P < 0.01), hospital admissions (S1, 11%; S2, 6.9%; S3, 7.9%; P < 0.01) and the use of antibiotherapy (S1, 8.6%; S2, 6.7%; S3, 6.4%; P < 0.01). Sepsis was diagnosed in 13 patients, and it would have been detected with S2 and S3 except in 1 patient who had asymptomatic bacteriemia by Enterococcus faecalis. No patient with mild and self-limited symptoms in whom antibiotherapy was not started received a diagnosis of sepsis later on. Conclusion Close clinical observation seems to be a safe option and could reduce the use of diagnostic tests, hospital admission and unnecessary antibiotherapy. The watchful waiting approach in patients with mild and self-limiting symptoms in the first hours post birth does not appear to be associated with failure to identify sepsis. Introducción La sepsis neonatal de inicio precoz (SNIP) puede causar morbi-mortalidad importante, sobre todo si se retrasa su identificación. La disminución de su incidencia en las últimas décadas motiva que sea importante encontrar un equilibrio entre reducir las pruebas complementarias y seguir detectando los pacientes afectos. Comparamos 3 estrategias de detección en pacientes con factores de riesgo (FR): E1. Cribado analítico; E2. Calculadora de riesgo de sepsis neonatal; E3. Observación clínica. Pacientes y métodos Estudio observacional retrospectivo, en recién nacidos con edad gestacional ≥34 semanas y con FR o sintomatología compatible con SNIP. Se analizaron los resultados de nuestra unidad con cribado analítico (E1) y se comparó con las otras 2 estrategias (E2 y E3) para valorar modificar nuestro protocolo. Resultados Se incluyeron 754 pacientes cuyos FR más frecuentes fueron la rotura prologada de membranas (35,5%) y la colonización materna por S.agalactiae (38,5%). Las E2 y E3 disminuirían la realización de analíticas (E1 56,8% de los pacientes; E2 9,9%; E3 22,4%; P < 0,01), los ingresos hospitalarios (E1 11%; E2 6,9%; E3 7,9%; P < 0,01) y la administración de antibioterapia (E1 8,6%; E2 6,7%; E3 6,4%; P < 0,01). 13 pacientes se diagnosticaron de sepsis, las cuales se hubieran detectado con E2 y E3, salvo un paciente con bacteriemia asintomática por E. faecalis. Ningún paciente con clínica leve y autolimitada en que no se inició antibioterapia, se diagnosticó posteriormente de sepsis. Conclusiones La observación clínica estrecha parece una opción segura y podría disminuir la realización de pruebas complementarias, la tasa de hospitalización y el uso de antibioterapia innecesaria. Mantener una conducta expectante en pacientes con sintomatología leve y autolimitada en las primeras horas de vida parece no relacionarse con la no identificación de sepsis.

Diagnosis; Non-endemic; Schistosomiasis Diagnóstico; No endémico; Esquistosomiasis Diagnòstic; No endèmic; Esquistosomiasi A consensus on the recommended screening algorithms for schistosomiasis in asymptomatic high-risk subjects in non-endemic areas is lacking. The objective of this study was to evaluate the real-life performance of direct microscopy and ELISA serology for schistosomiasis screening in a high-risk population in a non-endemic setting. A retrospective cohort study was conducted in two out-patient Tropical Medicine units in Barcelona (Spain) from 2014 to 2017. Asymptomatic adults arriving from the Sub-Saharan region were included. Schistosomiasis screening was conducted according to clinical practice following a different strategy in each setting: (A) feces and urine direct examination plus S. mansoni serology if non-explained eosinophilia was present and (B) S. mansoni serology plus uroparasitological examination as the second step in case of a positive serology. Demographic, clinical and laboratory features were collected. Schistosomiasis cases, clinical management and a 24 month follow-up were recorded for each group. Four-hundred forty individuals were included. The patients were mainly from West African countries. Fifty schistosomiasis cases were detected (11.5% group A vs. 4 % group B, p = 0.733). When both microscopic and serological techniques were performed, discordant results were recorded in 18.4% (16/88). Schistosomiasis cases were younger (p < 0.001) and presented eosinophilia and elevated IgE (p < 0.001) more frequently. Schistosomiasis is a frequent diagnosis among high-risk populations. Serology achieves a similar performance to direct diagnosis for the screening of schistosomiasis in a high-risk population.

Population screening; Liver fibrosis; Early diagnosis Cribratge de població; Fibrosi hepàtica; Diagnòstic precoç Cribado de población; Fibrosis hepática; Diagnóstico precoz Cirrhosis, highly prevalent worldwide, develops after years of hepatic inflammation triggering progressive fibrosis. Currently, the main etiologies of cirrhosis are non-alcoholic fatty liver disease and alcohol-related liver disease, although chronic hepatitis B and C infections are still major etiological factors in some areas of the world. Recent studies have shown that liver fibrosis can be assessed with relatively high accuracy noninvasively by serological tests, transient elastography, and radiological methods. These modalities may be utilized for screening for liver fibrosis in at-risk populations. Thus far, a limited number of population-based studies using noninvasive tests in different areas of the world indicate that a significant percentage of subjects without known liver disease (around 5% in general populations and a higher rate −18% to 27%-in populations with risk factors for liver disease) have significant undetected liver fibrosis or established cirrhosis. Larger international studies are required to show the harms and benefits before concluding that screening for liver fibrosis should be applied to populations at risk for chronic liver diseases. Screening for liver fibrosis has the potential for changing the current approach from diagnosing chronic liver diseases late when patients have already developed complications of cirrhosis to diagnosing liver fibrosis in asymptomatic subjects providing the opportunity of preventing disease progression. LiverScreen Consortium and the European Commission under the H20/20 program (847989); AGAUR (2017SGR-01281); Centro de Investigacion Biomedica en Enfermedades Hepaticas y Digestivas; Fundación de Investigación Sanitaria, cofunded by Instituto Carlos III–Subdirección General de Evaluación and the European Regional Development Fund (PI18/01330, PI18/00662, and PI18/00862); and Gilead’s Investigator–sponsored research program (IN-ES-989-5309)

Chagas disease; Community pharmacies; Rapid test Enfermedad de Chagas; Farmacias comunitarias; Test rapido Malaltia de Chagas; Farmàcies comunitàries; Prova ràpida Objectives: This study aimed to report the protocol and results from the pilot phase of an opportunistic CP-based CD screening program in Barcelona, Spain. Methods: Three strategies according to recruitment approach were designed: passive, active and active-community. The study process consisted of signing the informed consent form, recording the patient’s data in a web-based database system, and performing the rapid test and blood collection on dry paper. Results: Nineteen pharmacies participated and 64 patients were included during the pilot phase of the study. The rapid diagnostic test (RDT) was positive in 2/64 (3.13%) cases. Of the 49 DBS samples that arrived at the laboratory, 22 (45%) were collected incorrectly. After quantitative and qualitative assessment of the program, the dry paper sample and passive strategy were ruled out. Conclusion: DBS sampling and the passive strategy are not suitable for CD screening in community pharmacies. There is a need to expand the number of participating pharmacies and individuals to determine whether conducting a RDT in community pharmacies is an effective screening method to increase access to CD diagnosis in a non-endemic area. This work has been supported by the Fundació la Marató TV3 (project number 481/U/2018).

Cancer screening; Non-small-cell lung cancer Cribado de cáncer; Cáncer de pulmón de células no pequeñas Cribratge de càncer; Càncer de pulmó no de cèl·lules petites Access to a comprehensive molecular alteration screening is patchy in Europe and quality of the molecular analysis varies. SPECTAlung was created in 2015 as a pan-European screening platform for patients with thoracic malignancies. Here we report the results of almost 4 years of prospective molecular screening of patients with thoracic malignancies, in terms of quality of the program and molecular alterations identified. Patients with thoracic malignancies at any stage of disease were recruited in SPECTAlung, from June 2015 to May 2019, in 7 different countries. Molecular tumour boards were organised monthly to discuss patients’ molecular and clinical profile and possible biomarker-driven treatments, including clinical trial options. FFPE material was collected and analysed for 576 patients with diagnosis of pleural, lung, or thymic malignancies. Ultimately, 539 patients were eligible (93.6%) and 528 patients were assessable (91.7%). The turn-around time for report generation and molecular tumour board was 214 days (median). Targetable molecular alterations were observed in almost 20% of cases, but treatment adaptation was low (3% of patients). SPECTAlung showed the feasibility of a pan-European screening platform. One fifth of the patients had a targetable molecular alteration. Some operational issues were discovered and adapted to improve efficiency. This publication was supported by Fonds Baillet Latour from Belgium and Walgreens Boots Alliance.

NCL2 disease; Dried blood spot; Enzymatic activity Enfermedad de NCL2; Mancha de sangre seca; Actividad enzimática Malaltia de NCL2; Taca de sang seca; Activitat enzimàtica Introduction: Neuronal Ceroid Lipofuscinosis (NCL) comprises a clinically and genetically heterogeneous group of 13 neurodegenerative lysosomal storage disorders. Neuronal Ceroid lipofuscinosis type 2 disease (NCL2), caused by the deficient lysosomal enzyme tripeptidyl peptidase 1 (TPP1), is the only one with an approved enzyme replacement treatment (ERT). Early initiation of ERT appears to modify significantly the natural history of the disease. We aimed to shorten the time to diagnosis of NCL2. Methods: In March 2017, we started per first time in Spain a selective screening program, the LINCE project, in pediatric patients with clinical symptoms compatible with NCL2 disease. The program covered the whole country. We distributed kits to pediatricians with the necessary material to assess patients. All samples in this study were received within one week of collection. Enzymatic activity determined on dried blood spots was the main method used to screen for TPP1 and palmitoyl protein thioesterase 1 (PPT1) for the differential diagnosis with neuronal ceroid lipofuscinosis type 1 (NCL1). Results: Over a period of three years, we received 71 samples. The analysis was minimally invasive, relatively cheap and fast-executing. Three cases identified as a direct result of the selective screening strategy were confirmed by genetic study of NCL2 disease with a median age of 4.5 years. Our screening method has a specificity of 100%, and, with the absence to date of false negatives. We did not detect any NCL1-positive cases. Conclusions: LINCE proved to be a simple, useful, and reliable tool for the diagnosis of NCL2, enabling clinicians to diagnose NCL2 faster. The presence of NCL2-positive cases in our population and availability of treatment may facilitate the inclusion of NCL2 in neonatal screening programs for early diagnosis. This study received funding from Grant Biomarin Inc. The funder was not involved in the study design, collection, analysis, interpretation of data, the writing of this article or the decision to submit it for publication.

Magnetic resonance imaging; Predictive model; Prostate cancer Imágenes por resonancia magnética; Modelo predictivo; Cáncer de próstata Imatges per ressonància magnètica; Model predictiu; Càncer de pròstata A predictive model including age, PCa family history, biopsy status (initial vs repeat), DRE (normal vs abnormal), serum prostate-specific antigen (PSA), and DRE prostate volume ca-tegory was developed to stratify initial PCa suspicion in 1486 men with PSA > 3 ng/mL and/or abnormal DRE, in whom mpMRI followed; 2- to 4-core TRUS-guided biopsies where Prostate Imaging Report and Data System (PI-RADS) > 3 lesions and/or 12-core TRUS systematic biopsies were performed in one academic institution between 1 January 2016–31 December 2019. The csPCa detection rate, defined as International Society of Uro-Pathology grade group 2 or higher, was 36.9%. An external validation of designed BCN-RC 1 was carried out on 946 men from two other institutions in the same metropolitan area, using the same criteria of PCa suspicion and diagnostic approach, yielded a csPCa detection rate of 40.8%. The areas under the receiver operating characteristic curves of BCN-RC 1 were 0.823 (95% CI: 0.800–0.846) in the development cohort and 0.837 (95% CI: 0.811–0.863) in the validation cohort (p = 0.447). In both cohorts, BCN-RC 1 exhibited net benefit over performing mpMRI in all men from 8 and 12% risk thresholds, respectively. At 0.95 sensitivity of csPCa, the specificities of BCN-RC 1 were 0.24 (95% CI: 0.22–0.26) in the development cohort and 0.34 (95% CI: 0.31–0.37) in the validation cohort (p < 0.001). The percentages of avoided mpMRI scans were 17.2% in the development cohort and 22.3% in the validation cohort, missing between 1.8% and 2% of csPCa among men at risk of PCa. In summary, BCN-RC 1 can stratify initial PCa suspicion, reducing the demand of mpMRI, with an acceptable loss of csPCa. This research was funded by Instituto de Salut Carlos III (SP) and European Union, grant number PI20/01666.

Newborn screening; Severe combined immunodeficiency Cribatge nounat; Immunodeficiència combinada severa Cribado neonato; Inmunodeficiencia combinada grave Purine nucleoside phosphorylase (PNP) deficiency is a rare inherited disorder, resulting in severe combined immunodeficiency. To date, PNP deficiency has been detected in newborn screening only through the use of liquid chromatography tandem mass spectrometry. We report the first case in which PNP deficiency was detected by TREC analysis. This research was funded by Jeffrey Modell Foundation.

Algoritme; Pneumonia; Atenció primaria; Detecció Neumonía; Atención primaria; Detección; Algoritmo Algorithm; Pneumonia; Primary care; Detection Protocol per al tractament de la pneumònia lleu amb ingrés domiciliari. Protocolo para el tratamiento de la neumonía leve con ingreso domiciliario. Protocol for the treatment of mild pneumonia at home.

Atròfia muscular espinal; Cribratge neonatal; Avaluació; Detecció precoç Atrofia muscular espinal; Cribado neonatal; Evaluación; Detección precoz Spinal muscular atrophy; Neonatal screening; Evaluation; Early detection L'objectiu d'aquest informe és avaluar la inclusió de l’atròfia muscular espinal dins d’un programa de cribratge neonatal en base a l’evidència sobre la seva eficàcia, efectivitat i seguretat, així com els requisits o principis establerts per implementar cribratges genètics i programes de cribratge en general.

Càncer de pròstata; Cribratge; Antigen prostàtic específic; PSA Cáncer de próstata; Cribado; Antígeno prostático específico; PSA Prostate cancer; Screening; Prostate specific antigen; PSA Informe que analitza el cribratge que es fa a l'ICS per al diagnòstic del càncer de pròstata a través del PSA; a qui se li practica, com s'usa, si existeix variabilitat entre els professionals i si els metges hiperutilitzadors són més intervencionistes.