Supporting international networks through platforms for standardised data collection—the European Registries for Rare Endocrine Conditions (EuRRECa) model

Rare endocrine pathology is manifested by either a deficiency or excess of one or more hormones. These conditions can be life-threatening and are almost universally associated with long-term morbidity. Understanding the aetiology of these conditions requires multicentre collaboration and expertise, most often across national boundaries, with the capacity for long-term follow-up. The EuRRECa (European Registries for Rare Endocrine Conditions) project (www.eurreca.net), funded by the EU Health Programme, aims to support the needs of the wider endocrine community by maximising the opportunity for collaboration between patients, health care professionals and researchers across Europe and beyond. At the heart of the EuRRECa collaboration is a Core Endocrine Registry that collects a core dataset for all rare endocrine conditions that are covered within Endo-ERN. The registry incorporates patient reported markers of clinical outcome and will signpost participants to high-quality, disease-specific registries. Furthermore, an electronic surveillance programme (e-REC) captures clinical activity and epidemiology for these rare conditions. EuRRECa receives guidance compliant with the highest ethical standards from Expert Working Groups that align with the Main Thematic Groups of Endo-ERN. Security, data quality and data governance are cornerstones of this platform. Clear policies that are acceptable to patients, researchers and industry for data governance coupled with widespread dissemination and knowledge exchange through closely affiliated stakeholders will ensure sustainability beyond the current lifetime of the project. This paper describes the infrastructure that has been developed, stakeholder involvement, the data fields that are captured within the registry and details on the process for using the platform

Supporting international networks through platforms for standardised data collection-the European Registries for Rare Endocrine Conditions (EuRRECa) model

Rare endocrine pathology is manifested by either a deficiency or excess of one or more hormones. These conditions can be life-threatening and are almost universally associated with long-term morbidity. Understanding the aetiology of these conditions requires multicentre collaboration and expertise, most often across national boundaries, with the capacity for long-term follow-up. The EuRRECa (European Registries for Rare Endocrine Conditions) project (), funded by the EU Health Programme, aims to support the needs of the wider endocrine community by maximising the opportunity for collaboration between patients, health care professionals and researchers across Europe and beyond. At the heart of the EuRRECa collaboration is a Core Endocrine Registry that collects a core dataset for all rare endocrine conditions that are covered within Endo-ERN. The registry incorporates patient reported markers of clinical outcome and will signpost participants to high-quality, disease-specific registries. Furthermore, an electronic surveillance programme (e-REC) captures clinical activity and epidemiology for these rare conditions. EuRRECa receives guidance compliant with the highest ethical standards from Expert Working Groups that align with the Main Thematic Groups of Endo-ERN. Security, data quality and data governance are cornerstones of this platform. Clear policies that are acceptable to patients, researchers and industry for data governance coupled with widespread dissemination and knowledge exchange through closely affiliated stakeholders will ensure sustainability beyond the current lifetime of the project. This paper describes the infrastructure that has been developed, stakeholder involvement, the data fields that are captured within the registry and details on the process for using the platform.Diabetes mellitus: pathophysiological changes and therap

Venous thromboembolism in Cushing syndrome: results from an EuRRECa and Endo-ERN survey

Background: Patients with Cushing syndrome (CS) are at increased risk of venous thromboembolism (VTE). Objective: The aim was to evaluate the current management of new cases of CS with a focus on VTE and thromboprophylaxis. Design and methods: A survey was conducted within those that report in the electronic reporting tool (e-REC) of the European Registries for Rare Endocrine Conditions (EuRRECa) and the involved main thematic groups (MTG’s) of the European Reference Networks for Rare Endocrine Disorders (Endo-ERN) on new patients with CS from January 2021 to July 2022. Results: Of 222 patients (mean age 44 years, 165 females), 141 patients had Cushing disease (64%), 69 adrenal CS (31%), and 12 patients with ectopic CS (5.4%). The mean follow-up period post-CS diagnosis was 15 months (range 3–30). Cortisol-lowering medications were initiated in 38% of patients. One hundred fifty-four patients (69%) received thromboprophylaxis (including patients on chronic anticoagulant treatment), of which low-molecular-weight heparins were used in 96% of cases. VTE was reported in six patients (2.7%), of which one was fatal: two long before CS diagnosis, two between diagnosis and surgery, and two postoperatively. Three patients were using thromboprophylaxis at time of the VTE diagnosis. The incidence rate of VTE in patients after Cushing syndrome diagnosis in our study cohort was 14.6 (95% CI 5.5; 38.6) per 1000 person-years. Conclusion: Thirty percent of patients with CS did not receive preoperative thromboprophylaxis during their active disease stage, and half of the VTE cases even occurred during this stage despite thromboprophylaxis. Prospective trials to establish the optimal thromboprophylaxis strategy in CS patients are highly needed. Significance statement: The incidence rate of venous thromboembolism in our study cohort was 14.6 (95% CI 5.5; 38.6) per 1000 person-years. Notably, this survey showed that there is great heterogeneity regarding time of initiation and duration of thromboprophylaxis in expert centers throughout Europe

Spread of a SARS-CoV-2 variant through Europe in the summer of 2020.

Following its emergence in late 2019, the spread of SARS-CoV-21,2 has been tracked by phylogenetic analysis of viral genome sequences in unprecedented detail3–5. Although the virus spread globally in early 2020 before borders closed, intercontinental travel has since been greatly reduced. However, travel within Europe resumed in the summer of 2020. Here we report on a SARS-CoV-2 variant, 20E (EU1), that was identified in Spain in early summer 2020 and subsequently spread across Europe. We find no evidence that this variant has increased transmissibility, but instead demonstrate how rising incidence in Spain, resumption of travel, and lack of effective screening and containment may explain the variant’s success. Despite travel restrictions, we estimate that 20E (EU1) was introduced hundreds of times to European countries by summertime travellers, which is likely to have undermined local efforts to minimize infection with SARS-CoV-2. Our results illustrate how a variant can rapidly become dominant even in the absence of a substantial transmission advantage in favourable epidemiological settings. Genomic surveillance is critical for understanding how travel can affect transmission of SARS-CoV-2, and thus for informing future containment strategies as travel resumes. © 2021, The Author(s), under exclusive licence to Springer Nature Limited

References-enriched Concept Map: A tool for collecting and comparing disparate definitions appearing in multiple references

Finding and sharing a common vocabulary is a critical task for the development of any area of knowledge. However, it is very common to find heated debate in the literature on the meaning of particular terms. Different authors propose different definitions, some of them even contradictory. This situation, while enriching the scientific process, may hinder the understanding of fundamental concepts regarding a certain subject. To address this problem, we propose a technique called References-enriched Concept Maps (RCM), inspired by concept maps. RCM can be used to compare definitions and therefore improve the understanding of terms, keeping track of the publications in which the different definitions were proposed. We present a method of RCM construction as well as different metrics for analysing them. An analysis carried out using the proposed metrics allows one to find answers while also raising new questions about the discussed concepts. © The Author(s) 2013

A Tool for Management of Knowledge Dispersed throughout Multiple References

When modeling tasks are performed, it is important that the different modeling team members share a common vocabulary. This implies not only agreement on the terminology itself but especially on the meaning of the terms used. To this end it comes in handy to have graphical tools for sharing and analyzing the knowledge dispersed throughout different sources. In this paper we present RCMTool, a tool for creating References-enriched Concept Maps (RCM). This technique has been specially designed to facilitate the compact presentation and comparison of different definitions provided by multiple authors in diverse sources. This paper presents the main features of RCMTool, based on the development of an RCM metamodel and the inclusion of a natural language processing engine

Spatial variation of hermatypic coral assemblages in Cayos Cochinos Archipelago, Honduras [Variaci�n espacial de los ensamblajes de corales hermat�picos en el archipi�lago Cayos Cochinos, Honduras]

Spatial variations of hermatypic coral assemblages were evaluated at five sites in Cayos Cochinos Archipelago, Honduras, in February 2008. Richness and coverage of corals and other benthic morpho-functional groups were estimated using 56 videotransects. Topographic complexity and depth were also measured by transect. Twenty-two coral taxa were recorded for Cayos Cochinos. Total species richness was similar (16 and 17 taxa) at all sites, whereas species richness by transect was different among sites (6-12 taxa). Shannon diversity showed weak differences among sites (1.46-2.13), whereas Pielou evenness was not different among sites. Simpson dominance was low with weak differences among sites (0.15-0.27). The total cover of hermatypic coral was 16.5% at Roatan Bank, 10.5% at Salamandinga, 9.7% at Punta Pelicanos, 7.6% at La Grupera, and 6.9% at Mariposales. The ANOSIM revealed assemblages of different corals between sites, except between La Grupera, Punta Pelicanos, and Salamandinga. The NMDS associated La Grupera, Punta Pelicanos, and Salamandinga given the greater contribution of Porites astreoides, Agaricia agaricites, and Montastraea annularis; whereas the NMDS differentiated Mariposales and Roatan Bank, which had more dissimilar assemblages with a greater predominance of Montastraea cavernosa, Agaricia agaricites, and Diploria labyrinthiformis. According to the BIO-ENV method, coral composition and abundance were correlated with the cover of articulated calcareous algae, sandy substrate, total hermatypic corals, rocky-calcareous substrate, fleshy macroalgae, and hydrocorals. In general, the differences found in the coral assemblages of Cayos Cochinos could be due to geomorphological characteristics as well as the effects of human activities in the study area

Electronic reporting of rare endocrine conditions within a clinical network: Results from the EuRRECa project

Objective The European Registries for Rare Endocrine Conditions (EuRRECa, eurreb.eu) includes an e-reporting registry (e-REC) used to perform surveillance of conditions within the European Reference Network (ERN) for rare endocrine conditions (Endo-ERN). The aim of this study was to report the experience of e-REC over the 3.5 years since its launch in 2018. Methods Electronic reporting capturing new encounters of Endo-ERN conditions was performed monthly through a bespoke platform by clinicians registered to participate in e-REC from July 2018 to December 2021. Results The number of centres reporting on e-REC increased to a total of 61 centres from 22 countries. A median of 29 (range 11, 45) paediatric and 32 (14, 51) adult centres had reported cases monthly. A total of 9715 and 4243 new cases were reported in adults (age ≥18 years) and children, respectively. In children, sex development conditions comprised 40% of all reported conditions and transgender cases were most frequently reported, comprising 58% of sex development conditions. The median number of sex development cases reported per centre per month was 0.6 (0, 38). Amongst adults, pituitary conditions comprised 44% of reported conditions and pituitary adenomas (69% of cases) were most commonly reported. The median number of pituitary cases reported per centre per month was 4 (0.4, 33). Conclusions e-REC has gained increasing acceptability over the last 3.5 years for capturing brief information on new encounters of rare conditions and shows wide variations in the rate of presentation of these conditions to centres within a reference network