129,407 research outputs found
INSAID Variant Classification and Eurofever Criteria Guide Optimal Treatment Strategy in Patients with TRAPS: Data from the Eurofever Registry
No full textBACKGROUND: TNF receptor-associated periodic syndrome (TRAPS) is a rare autoinflammatory disease caused by dominant mutation of the TNF super family receptor 1A (TNFRSF1A) gene. Data regarding long-term treatment outcomes are lacking. OBJECTIVE: To assess correlations of genotype-phenotypes in patients with TRAPS, as defined by the International Study Group for Systemic Autoinflammatory Diseases (INSAID) classification and Eurofever criteria, with treatment responses. METHODS: Data from 226 patients with variants of the TNFRSF1A gene and enrolled in the Eurofever registry were classified according to the INSAID classification in groups A (pathogenic or likely pathogenic variants), B (variants of uncertain significance or not classified variants), and C (benign or likely benign variants) and screened for Eurofever criteria. RESULTS: In group A (127 of 226 patients, 56%), all fulfilled Eurofever criteria and 20 of 127 patients (16%) developed AA amyloidosis. In group B (78 of 226 patients, 35%), 40 of 78 patients (51%) did not fulfill Eurofever criteria, displaying a lower incidence of abdominal pain (P 85% complete response). No patients on anti-IL-1 treatments developed AA amyloidosis, and 7 women with a history of failure to conceive had successful pregnancies. CONCLUSION: Anti-IL-1 drugs are the best maintenance treatment in patients with TRAPS. The diagnosis of TRAPS should be considered very carefully in patients of group B not fulfilling Eurofever criteria and group C, and colchicine may be preferable as the first maintenance treatment
The Eurofever project: an update on the longitudinal stage
No full textThe overall data retrieved by the Eurofever project have been presented and discussed in this report
An international registry on autoinflammatory diseases: the Eurofever experience
No full textItem does not contain fulltextOBJECTIVE: To report on the demographic data from the first 18 months of enrollment to an international registry on autoinflammatory diseases in the context of the Eurofever project. METHODS: A web-based registry collecting baseline and clinical information on autoinflammatory diseases and related conditions is available in the member area of the PRINTO web-site. Anonymised data were collected with standardised forms. RESULTS: 1880 (M:F=916:964) individuals from 67 centers in 31 countries have been entered in the Eurofever registry. Most of the patients (1388; 74%), reside in western Europe, 294 (16%) in the eastern and southern Mediterranean region (Turkey, Israel, North Africa), 106 (6%) in eastern Europe, 54 in Asia, 27 in South America and 11 in Australia. In total 1049 patients with a clinical diagnosis of a monogenic autoinflammatory diseases have been enrolled; genetic analysis was performed in 993 patients (95%): 703 patients have genetically confirmed disease and 197 patients are heterozygous carriers of mutations in genes that are mutated in patients with recessively inherited autoinflammatory diseases. The median diagnosis delay was 7.3 years (range 0.3-76), with a clear reduction in patients born after the identification of the first gene associated with autoinflammatory diseases in 1997. CONCLUSIONS: A shared online registry for patients with autoinflammatory diseases is available and enrollment is ongoing. Currently, there are data available for analysis on clinical presentation, disease course, and response to treatment, and to perform large scale comparative studies between different conditions
The longitudinal Eurofever project: an update on enrollment.
No full textEurover Registry has given the opportunity to enroll patients with periodic fevers from countries all over the world: the enrollment is still ongoing. The analysis of data from Eurofever is improving our knowledge both on the natural history of the single disease and on the efficacy/safety of treatment commonly used in the clinical practice
Breaking down the fences among registries on autoinflammatory diseases: the E-Merge project
No full textAbstract Background Among the various numbers of different autoinflammatory diseases (AIDs), the absolute majority of them remains rare, with a single representative in large populations. This project, endorsed by PRES, supported by the EMERGE fellowship program, and performed in line with the Metadata registry for the ERN RITA (MeRITA), has the objective of performing a data synchronization attempt of the most relevant research questions regarding clinical features, diagnostic strategies, and optimal management of autoinflammatory diseases. Results An analysis of three large European registries: Eurofever, JIR-cohort and AID-Net, with a total coverage of 7825 patients from 278 participating centers from different countries, was performed in the context of epidemiological and clinical data merging. The data collected and evaluated in the registries does not cover only pediatric patients, but also adults with newly diagnosed AIDs. General aspects of the existing epidemiological data have been discussed in the context of patient global distribution, potential diagnostic delays, access to genetic testing, and the availability of the treatment. Conclusions In general, the results indicate a great potential for upcoming collaborative work using existing data in cohorts that enhance the quality of medical care performed for patients with autoinflammatory diseases
Student Project: Replication of Author, Author, & Author (201X, JDM, Study X) - Template
No full textThis project is an independent replication of Author, Author, & Author (201X, study X) conducted as part of the Hagen Cumulative Science Project
A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry
No full textBackground
Hereditary recurrent fevers (HRF) are a group of rare monogenic diseases leading to recurrent inflammatory flares. A large number of variants has been described for the four genes associated with the best known HRF, namely MEFV, NLRP3, MVK, TNFRSF1A. The Infevers database (http://fmf.igh.cnrs.fr/ISSAID/infevers) is a large international registry collecting variants reported in these genes. However, no genotype-phenotype associations are provided, but only the clinical phenotype of the first patient(s) described for each mutation. The aim of this study is to develop a registry of genotype-phenotype associations observed in patients with HRF, enrolled and validated in the Eurofever registry.
Results
Genotype-phenotype associations observed in all the patients with HRF enrolled in the Eurofever registry were retrospectively analyzed. For autosomal dominant diseases (CAPS and TRAPS), all mutations were individually analyzed. For autosomal recessive diseases (FMF and MKD), homozygous and heterozygous combinations were described. Mean age of onset, disease course (recurrent or chronic), mean duration of fever episodes, clinical manifestations associated with fever episodes, atypical manifestations, complications and response to treatment were also studied.
Data observed in 751 patients (346 FMF, 133 CAPS, 114 MKD, 158 TRAPS) included in the Eurofever registry and validated by experts were summarized in Tables. A total of 149 variants were described: 46 TNFRSF1A and 27 NLRP3 variants, as well as various combinations of 48 MVK and 28 MEFV variants were available.
Conclusions
We provide a potentially useful tool for physicians dealing with HRF, namely a registry of genotype-phenotype associations for patients enrolled in the Eurofever registry. This tool is complementary to the Infevers database and will be available at the Eurofever and Infevers websites
The Eurofever Project: towards better care for autoinflammatory diseases
No full textAutoinflammatory diseases are a group of diseases characterized by inflammatory attacks. The monogenic forms of these diseases are also classified as the hereditary periodic fever syndromes. All are characterized by attacks of fever along with certain clinical features and high acute phase reactants. Most of these monogenic diseases are associated with hereditary disorders of the interleukin-1 pathway. The most common autoinflammatory disease is familial Mediterranean fever. The other rather common monogenic diseases are the tumor necrosis factor receptor-associated periodic syndrome, hyperimmunoglobulinemia D with periodic fever syndrome, and cryopyrin-associated periodic fever syndromes (CAPS). However, a number of multifactorial diseases such as Beh double dagger et disease are now also categorized under the topic of autoinflammatory diseases. The main features and management of these diseases will be reviewed. Finally, we introduce the "Eurofever" project, aimed to increase awareness and education for the aforementioned diseases. We conclude that the pediatrician should be aware of the features and management of autoinflammatory diseases since all present with fever-the most common symptom of pediatric practice
The amoebic growth of project costs
No full textIn the public arena, we often hear about projects that have suffered massive cost overruns. Often they are related to large public construction projects such as airports, bridges, or public buildings. Large overruns also exist in private industry. However, often these do not appear in the newspapers, so the public is not as aware of them. Of course, not all projects go badly wrong, but quite a few do, and frequently we find ourselves uncertain of the causes for such overruns. In this paper, industrial projects that overrun and overrun in a surprising manner are considered. In other words, the paper considers those many projects where the extent of the overrun is well beyond what might ever have been anticipated, even though what was going wrong within the projects was, for the most part, understood.The basis for the content of the paper (that is, the structure and lessons), are drawn from a postmortem analysis of many large projects as part of claims analysis, particularly "delay and disruption" claims for projects whose total expenditure appeared, at first look, inexplicable or surprising. The aim of the paper is to contribute to an understanding of how projects go badly wrong, when they do, and in particular to draw some lessons from this exploration that are likely to help all managers. The reasons for cost escalation are not just the responsibility of project managers.<br/
Social media for improving metro rail project operations
No full textGreen Open Access added to TU Delft Institutional Repository 'You share, we take care!' - Taverne project https://www.openaccess.nl/en/you-share-we-take-care Otherwise as indicated in the copyright section: the publisher is the copyright holder of this work and the author uses the Dutch legislation to make this work public.Integral Design & Managemen
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