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Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations
Julian Thalhammer, Gerhard Kindle, Alexandra Nieters, Stephan Rusch, Mikko R. J. Seppänen, Alain Fischer, Bodo Grimbacher, David Edgar, Matthew Buckland, Nizar Mahlaoui, 2021, original scientific article

Abstract: Background. Inborn errors of immunity (IEI) are rare diseases, which makes diagnosis a challenge. A better description of the initial presenting manifestations should improve awareness and avoid diagnostic delay. Although increased infection susceptibility is a well-known initial IEI manifestation, less is known about the frequency of other presenting manifestations. Objective. We sought to analyze age-related initial presenting manifestations of IEI including different IEI disease cohorts. Methods. We analyzed data on 16,486 patients of the European Society for Immunodeficiencies Registry. Patients with autoinflammatory diseases were excluded because of the limited number registered. Results. Overall, 68% of patients initially presented with infections only, 9% with immune dysregulation only, and 9% with a combination of both. Syndromic features were the presenting feature in 12%, 4% had laboratory abnormalities only, 1.5% were diagnosed because of family history only, and 0.8% presented with malignancy. Two-third of patients with IEI presented before the age of 6 years, but a quarter of patients developed initial symptoms only as adults. Immune dysregulation was most frequently recognized as an initial IEI manifestation between age 6 and 25 years, with male predominance until age 10 years, shifting to female predominance after age 40 years. Infections were most prevalent as a first manifestation in patients presenting after age 30 years. Conclusions. An exclusive focus on infection-centered warning signs would have missed around 25% of patients with IEI who initially present with other manifestations.
Keywords: immunity, autoimmune diseases, inflammation, signs and symptoms, registries, inborn error of immunity, primary immunodeficiency, immune dysregulation
Published in DiRROS: 28.05.2021; Views: 520; Downloads: 88
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The Chronic Urticaria Registry (CURE) : rationale, methods, and initial implementation
Karsten Weller, Ana M. Giménez-Arnau, Clive Grattan, Riccardo Asero, Pascale Mathelier-Fusade, Mojca Bizjak, Michael Hanna, Marcus Maurer, 2020, short scientific article

Abstract: Background: Chronic urticaria (CU) is a common disease, characterized by the recurrent appearance of wheals, angioedema, or both for more than 6 weeks. Its underlying biology is not well understood, and many patients do not obtain sufficient relief from recommended treatments. Patient registries are rapidly growing as a form of research, because they can provide powerful, data-driven insights about the epidemiology of diseases, real-world effectiveness of treatments, rare patient types, safety monitoring, healthcare costs, and opportunities for quality improvement of healthcare delivery. Objectives: The Chronic Urticaria Registry (CURE) has been designed to improve the scientific understanding, clinical treatment, and healthcare planning of chronic urticaria patients. This report describes the rationale, methods, and initial implementation of this registry. Methods: CURE is an ongoing, prospective, international, multicenter, observational, voluntary registry of patients with CU. Participation in CURE is open to any physician treating CU patients, regardless of location, medical specialty, or type of practice setting. CURE aims to collect data on all CU patients, with no intentional selection or exclusion criteria. It collects baseline and follow-up data on the patient's demographics, history, symptoms, trigger and risk factors, therapies, and healthcare utilization. Results: CURE is a landmark achievement of the global urticaria medical community. As of 26 February 2020, 39 centers around the world have joined the registry and 35 have entered baseline data on a total of 2946 patients. Publications of this data will be forthcoming soon. Conclusions: CURE is eagerly seeking the participation of more physicians and the support of more governmental, charitable, and commercial sponsors from around the world. Here, in this paper, we invite other physicians to join this unique project to improve the lives of patients with CU.
Keywords: urticaria, registries
Published in DiRROS: 07.10.2020; Views: 813; Downloads: 433
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Completeness of tuberculosis (TB) notification : inventory studies and capture-recapture analyses, six European Union countries, 2014 to 2016
Masja Straetemans, Mirjam I Bakker, Sandra Alba, Christina Mergenthaler, Ente Rood, Peter H Andersen, Henrieke Schimmel, Aleksandar Šimunović, Petra Svetina, Carlos Carvalho, 2020, original scientific article

Abstract: Background. Progress towards the World Health Organization's End TB Strategy is monitored by assessing tuberculosis (TB) incidence, often derived from TB notification, assuming complete case detection and reporting. This assumption is unlikely to hold in many settings, including European Union (EU) countries. Aim. We aimed to assess observed and estimated completeness of TB notification through inventory studies and capture-recapture (CRC) methodology in six EU countries: Croatia, Denmark, Finland, the Netherlands, Portugal, Slovenia. Methods. We performed record linkage, case ascertainment and CRC analyses of data collected retrospectively from at least three national TB-related registers in each country between 2014 and 2016. Results. Observed completeness of TB notification by inventory studies was 73.9% in Croatia, 98.7% in Denmark, 83.6% in Finland, 81.6% in the Netherlands, 85.8% in Portugal and 100% in Slovenia. Subsequent CRC analysis estimated completeness of TB notification to be 98.4% in Denmark, 76.5% in Finland and 77.0% in Portugal. In Croatia, CRC analyses produced implausible results while in the Netherlands and Slovenia, it was methodologically considered not meaningful. Conclusion. Inventory studies and CRC methodology suggest a TB notification completeness between 73.9% and 100% in the six EU countries. Mandatory reporting by clinicians and laboratories, and cross-checking of registers, strongly contributes to accurate notification rates, but hospital episode registers likely contain a considerable proportion of false-positive TB records and are thus less useful. Further strengthening routine surveillance to count TB cases, i.e. incidence, accurately by employing record-linkage of high-quality TB registers should make CRC studies obsolete in EU countries.
Keywords: Mycobacterium tuberculosis, tuberculosis, incidence, public health surveillance, registries, reporting, notification, data collection, data analysis
Published in DiRROS: 27.07.2020; Views: 1020; Downloads: 577
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