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Association between common cardiovascular risk factors and clinical phenotype in patients with hypertrophic cardiomyopathy from the European Society of Cardiology (ESC) EurObservational Research Programme (EORP) Cardiomyopathy/Myocarditis registry.
No full textThe interaction between common cardiovascular risk factors (CVRF) and hypertrophic cardiomyopathy (HCM) is poorly studied. We sought to explore the relation between CVRF and the clinical characteristics of patients with HCM enrolled in the EURObservational Research Programme (EORP) Cardiomyopathy registry. 1739 patients with HCM were studied. The relation between hypertension (HT), diabetes (DM), body mass index (BMI), and clinical traits was analysed. Analyses were stratified according to the presence or absence of a pathogenic variant in a sarcomere gene. The prevalence of HT, DM, and obesity (Ob) was 37, 10, and 21%, respectively. HT, DM, and Ob were associated with older age (P<0.001), less family history of HCM (HT and DM P<0.001), higher New York Heart Association (NYHA) class (P<0.001), atrial fibrillation (HT and DM P<0.001; Ob p = 0.03) and LV (left ventricular) diastolic dysfunction (HT and Ob P<0.001; DM P = 0.003). Stroke was more frequent in HT (P<0.001) and mutation-positive patients with DM (P = 0.02). HT and Ob were associated with higher provocable LV outflow tract gradients (HT P<0.001, Ob P = 0.036). LV hypertrophy was more severe in Ob (P = 0.018). HT and Ob were independently associated with NYHA class (OR 1.419, P = 0.017 and OR 1.584, P = 0.004, respectively). Other associations, including a higher proportion of females in HT and of systolic dysfunction in HT and Ob, were observed only in mutation-positive patients.Common CVRF are associated with a more severe HCM phenotype, suggesting a proactive management of CVRF should be promoted. An interaction between genotype and CVRF was observed for some traits.S
The Use of Human Biomonitoring to Assess Occupational Exposure to PAHs in Europe: A Comprehensive Review.
No full textPolycyclic aromatic hydrocarbons (PAHs) are among the chemicals with proven impact on workers' health. The use of human biomonitoring (HBM) to assess occupational exposure to PAHs has become more common in recent years, but the data generated need an overall view to make them more usable by regulators and policymakers. This comprehensive review, developed under the Human Biomonitoring for Europe (HBM4EU) Initiative, was based on the literature available from 2008-2022, aiming to present and discuss the information on occupational exposure to PAHs, in order to identify the strengths and limitations of exposure and effect biomarkers and the knowledge needs for regulation in the workplace. The most frequently used exposure biomarker is urinary 1-hydroxypyrene (1-OH-PYR), a metabolite of pyrene. As effect biomarkers, those based on the measurement of oxidative stress (urinary 8-oxo-dG adducts) and genotoxicity (blood DNA strand-breaks) are the most common. Overall, a need to advance new harmonized approaches both in data and sample collection and in the use of appropriate biomarkers in occupational studies to obtain reliable and comparable data on PAH exposure in different industrial sectors, was noted. Moreover, the use of effect biomarkers can assist to identify work environments or activities of high risk, thus enabling preventive risk mitigation and management measures.S
sRNAbench and sRNAtoolbox 2022 update: accurate miRNA and sncRNA profiling for model and non-model organisms.
No full textThe NCBI Sequence Read Archive currently hosts microRNA sequencing data for over 800 different species, evidencing the existence of a broad taxonomic distribution in the field of small RNA research. Simultaneously, the number of samples per miRNA-seq study continues to increase resulting in a vast amount of data that requires accurate, fast and user-friendly analysis methods. Since the previous release of sRNAtoolbox in 2019, 55 000 sRNAbench jobs have been submitted which has motivated many improvements in its usability and the scope of the underlying annotation database. With this update, users can upload an unlimited number of samples or import them from Google Drive, Dropbox or URLs. Micro- and small RNA profiling can now be carried out using high-confidence Metazoan and plant specific databases, MirGeneDB and PmiREN respectively, together with genome assemblies and libraries from 441 Ensembl species. The new results page includes straightforward sample annotation to allow downstream differential expression analysis with sRNAde. Unassigned reads can also be explored by means of a new tool that performs mapping to microbial references, which can reveal contamination events or biologically meaningful findings as we describe in the example. sRNAtoolbox is available at: https://arn.ugr.es/srnatoolbox/.S
Vol. 27, nº 16. Leishmaniasis en Andalucía en el periodo 2017-2021
No full textEnfermedades de Declaración Obligatoria por provincias. Semana 15/2022 y acumulado desde semana 01/2022. Datos provisionales. Incluye además el artículo titulado 'Leishmaniasis en Andalucía en el periodo 2017-2021', de Estefanía Cano Martín, Enric Duran-Pla, Francisco José Bernal. Servicio de Vigilancia y Salud Laboral. DGSPyOF.Ye
Sentinel Node Biopsy Imaging in Breast Cancer: Scatter Reduction Using 3-Dimensionally Printed Lead Shields.
No full textPoint of injection scatter (SPI) confounds breast cancer sentinel lymph node detection. Round flat lead shields (FLSs) incompletely reduce SPI, requiring repositioning. We designed lead shields that reduce SPI and acquisition time. Two concave lead shields, a semioval lead shield (OLS) and a semispherical lead alloy shield (SLS), were created with a SICNOVA JCR 1000 3D printer to cover the point of injection (patent no. ES1219895U). Twenty breast cancer patients had anterior and anterior oblique imaging, 5 minutes and 2 hours after a single 111 MBq nanocolloid in 0.2 mL intratumoral or periareolar injection. Each acquisition was 2 minutes. Absolute and normalized background corrected scatter counts (CSCs) and scatter reduction percentage (%SR) related to the FLS were calculated. Repositionings were recorded. Differences between means of %SR (t test) and between means of CSC (analysis of variance) with Holm multiple comparison tests were determined. Mean %SR was 91.8% with OLS and 92% using SLS in early images (P = 0.91) and 87.2%SR in OLS and 88.5% in late images (P = 0.66). There were significant differences between CSC using FLS and OLS (P We designed 2 concave lead shields that significantly reduce the SPI and repositioning with sentinel lymph node lymphoscintigraphy
Network-Based Methods for Approaching Human Pathologies from a Phenotypic Point of View.
No full textNetwork and systemic approaches to studying human pathologies are helping us to gain insight into the molecular mechanisms of and potential therapeutic interventions for human diseases, especially for complex diseases where large numbers of genes are involved. The complex human pathological landscape is traditionally partitioned into discrete "diseases"; however, that partition is sometimes problematic, as diseases are highly heterogeneous and can differ greatly from one patient to another. Moreover, for many pathological states, the set of symptoms (phenotypes) manifested by the patient is not enough to diagnose a particular disease. On the contrary, phenotypes, by definition, are directly observable and can be closer to the molecular basis of the pathology. These clinical phenotypes are also important for personalised medicine, as they can help stratify patients and design personalised interventions. For these reasons, network and systemic approaches to pathologies are gradually incorporating phenotypic information. This review covers the current landscape of phenotype-centred network approaches to study different aspects of human diseases.S
Pharmacogenomics decision support in the U-PGx project: Results and advice from clinical implementation across seven European countries.
No full textThe clinical implementation of pharmacogenomics (PGx) could be one of the first milestones towards realizing personalized medicine in routine care. However, its widespread adoption requires the availability of suitable clinical decision support (CDS) systems, which is often impeded by the fragmentation or absence of adequate health IT infrastructures. We report results of CDS implementation in the large-scale European research project Ubiquitous Pharmacogenomics (U-PGx), in which PGx CDS was rolled out and evaluated across more than 15 clinical sites in the Netherlands, Spain, Slovenia, Italy, Greece, United Kingdom and Austria, covering a wide variety of healthcare settings. We evaluated the CDS implementation process through qualitative and quantitative process indicators. Quantitative indicators included statistics on generated PGx reports, median time from sampled upload until report delivery and statistics on report retrievals via the mobile-based CDS tool. Adoption of different CDS tools, uptake and usability were further investigated through a user survey among healthcare providers. Results of a risk assessment conducted prior to the implementation process were retrospectively analyzed and compared to actual encountered difficulties and their impact. As of March 2021, personalized PGx reports were produced from 6884 genotyped samples with a median delivery time of twenty minutes. Out of 131 invited healthcare providers, 65 completed the questionnaire (response rate: 49.6%). Overall satisfaction rates with the different CDS tools varied between 63.6% and 85.2% per tool. Delays in implementation were caused by challenges including institutional factors and complexities in the development of required tools and reference data resources, such as genotype-phenotype mappings. We demonstrated the feasibility of implementing a standardized PGx decision support solution in a multinational, multi-language and multi-center setting. Remaining challenges for future wide-scale roll-out include the harmonization of existing PGx information in guidelines and drug labels, the need for strategies to lower the barrier of PGx CDS adoption for healthcare institutions and providers, and easier compliance with regulatory and legal frameworks.S
Measuring feelings about choices and risks: The Berlin Emotional Responses to Risk Instrument (BERRI)
No full textWe introduce a brief instrument specifically validated for measuring positive and negative feelings about risks-the Berlin Emotional Responses to Risk Instrument (BERRI). Based on seven studies involving diverse adults from three countries (n = 2120), the BERRI was found to robustly estimate anticipatory affective reactions derived from subjective evaluations of positive (i.e., assured, hopeful, and relieved) and negative emotions (i.e., anxious, afraid, and worried). The brief BERRI outperformed a 14-item assessment, uniquely tracking costs/benefits associated with cancer screening among men and women (Studies 1 and 2). Predictive validity was further documented in paradigmatic risky choice studies wherein options varied over probabilities and severities across six contexts (health, social, financial, technological, ethical, and environmental; Study 3). Studies 4-6, conducted during the Ebola epidemic and COVID-19 pandemic, indicated BERRI responses were sensitive to subtle effects caused by emotion-related framing manipulations presented in different cultures and languages (the United States, Spain, and Poland). Study 7 indicated BERRI responses remained stable for 2 weeks. Although the BERRI can provide an estimate of overall affect, choices were generally better explained by the unique influences of positive and negative affect. Overall, results suggest the novel, brief instrument can be an efficient tool for high-stakes research on decision making and risk communication
Therapeutic Management of Idiosyncratic Drug-Induced Liver Injury and Acetaminophen Hepatotoxicity in the Paediatric Population: A Systematic Review.
No full textDrug-induced liver injury (DILI) is a rare but serious adverse event that can progress to acute liver failure (ALF). The evidence for treatment of DILI in children is scarce. We aimed to comprehensively review the available literature on the therapies for both acetaminophen overdose (APAP) and idiosyncratic DILI in the paediatric population. We included original articles conducted in a paediatric population ( Overall, 25 publications (fifteen case reports, six case series and four retrospective cohort studies) were included, including a total of 140 paediatric DILI cases, from preterm newborn neonates to adolescents. N-acetylcysteine was used to treat 19 APAP cases. N-acetylcysteine (n = 14), ursodeoxycholic acid (n = 3), corticosteroids (n = 31), carnitine (n = 16) and the combination of glycyrrhizin, reduced glutathione, polyene phosphatidylcholine and S-adenosylmethionine (n = 31) were the therapeutic options for treating idiosyncratic DILI. The molecular adsorbent recirculating system was used in the management of either APAP (n = 4) or idiosyncratic DILI (n = 2), while 20 paediatric ALF cases received continuous renal replacement therapy. This systematic review identified DILI in the paediatric population who have received specific treatment. These interventions appear to be mainly extrapolated from low-quality evidence from the adult population. Thus, there is a need for high-quality studies to test the efficacy of known and novel therapies to treat DILI specifically addressed to the paediatric population. PROSPERO registration number CRD42021214702
Continuing education programme on vaccines for primary healthcare professionals: mixed-method protocol.
No full textVaccination is a fundamental intervention in disease prevention; therefore, the advice and recommendations of health professionals have a major influence on the population's decision to be vaccinated or not. Professionals must have sufficient competencies to carry out their work and recommend vaccination with evidence-based knowledge. The aim is to design and validate a strategy to improve professional competencies in vaccination to positively influence adherence and increase vaccination rates in the population. Training will be designed based on evidence and previous studies and piloted with healthcare providers. To test changes in knowledge, a pretest and post-test will be conducted. To test feasibility, a think-aloud method will be used with participants and triangulated with focus groups using SWOT (strengths, weaknesses, opportunities and threats) analysis. Transfer will be measured using the questionnaire 'factors for the indirect evaluation of transfer' and an efficacy questionnaire 1½ months later; for satisfaction, an ad hoc questionnaire will be used. A summative approach will be used for the analysis of the focus groups and descriptive and bivariate statistics for the questionnaires. This study was approved by the Andalusian Research Ethics Committee, Spain (approval number: 0524-N-20). The results will be made available to the public at journal publications and scientific conferences