scholarly journals A survey of the European Reference Network EpiCARE on clinical practice for selected rare epilepsies

2020 ◽  
Author(s):  
Tobias Baumgartner ◽  
Mar Carreño ◽  
Rodrigo Rocamora ◽  
Francesca Bisulli ◽  
Antonella Boni ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Reference Network ◽  
European Reference Network

scholarly journals Current Clinical Practice for Thromboprophylaxis Management in Patients With Cushing’s Syndrome Across Reference Centers of the European Reference Network on Rare Endocrine Conditions (Endo-ERN)

2021 ◽  
Author(s):  
Femke van Haalen ◽  
M. Kaya ◽  
I.C.M. Pelsma ◽  
O.M. Dekkers ◽  
N.R. Biermasz ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Medical Treatment ◽  
Cushing’S Syndrome ◽  
Cushing's Syndrome ◽  
Reference Network ◽  
Current Clinical Practice ◽  
European Reference Network ◽  
Perioperative Bleeding ◽  
Increased Risk ◽  
First Choice

Abstract Background: Cushing’s syndrome (CS) is associated with an hypercoagulable state and an increased risk of venous thromboembolism (VTE). Evidence-based guidelines on thromboprophylaxis strategies in patients with CS are currently lacking. We aimed to map the current clinical practice for thromboprophylaxis management in patients with CS across reference centers (RCs) of the European Reference Network on Rare Endocrine Conditions (Endo-ERN), which are endorsed specifically for the diagnosis and treatment of CS. Using the EU survey tool, a primary screening survey, and subsequently a secondary, more in-depth survey were developed. Results: The majority of the RCs provided thromboprophylaxis to patients with CS (n=23/25), although only one center had a standardized thromboprophylaxis protocol (n=1/23). RCs most frequently started thromboprophylaxis from CS diagnosis onwards (n=11/23), and the majority stopped thromboprophylaxis based on individual patient characteristics, rather than standardized treatment duration (n=15/23). Factors influencing the initiation of thromboprophylaxis were ‘medical history of VTE’ (n=15/23) and ‘severity of hypercortisolism’ (n=15/23). Low-Molecular-Weight-Heparin was selected as the first-choice anticoagulant drug for thromboprophylaxis by all RCs (n=23/23). Postoperatively, the majority of RCs reported ‘severe immobilization’ as an indication to start thromboprophylaxis in patients with CS (n=15/25). Most RCs (n=19/25) did not provide standardized testing for variables of hemostasis in the postoperative care of CS. Furthermore, the majority of the RCs provided preoperative medical treatment to patients with CS (n=23/25). About half of these RCs (n=12/23) took a previous VTE into account when starting preoperative medical treatment, and about two-thirds (n=15/23) included ‘reduction of VTE risk’ as a goal of treatment. Conclusions: There is a large practice variation regarding thromboprophylaxis management and perioperative medical treatment in patients with CS, even in Endo-ERN RCs. Randomized controlled trials are needed to establish the optimal prophylactic anticoagulant regimen, carefully balancing the increased risk of (perioperative) bleeding, and the presence of additional risk factors for thrombosis.

scholarly journals Systemic sclerosis: state of the art on clinical practice guidelines

RMD Open ◽  
2018 ◽  
Vol 4 (Suppl 1) ◽  
pp. e000782 ◽  
Author(s):  
Vanessa Smith ◽  
Carlo Alberto Scirè ◽  
Rosaria Talarico ◽  
Paolo Airo ◽  
Tobias Alexander ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Systemic Sclerosis ◽  
Clinical Practice Guidelines ◽  
Practice Guidelines ◽  
Musculoskeletal Diseases ◽  
Reference Network ◽  
High Morbidity ◽  
Internal Organs ◽  
European Reference Network ◽  
Loss Of Self

Systemic sclerosis (SSc) is an orphan disease characterised by autoimmunity, fibrosis of the skin and internal organs, and vasculopathy. SSc may be associated with high morbidity and mortality. In this narrative review we summarise the results of a systematic literature research, which was performed as part of the European Reference Network on Rare and Complex Connective Tissue and Musculoskeletal Diseases project, aimed at evaluating existing clinical practice guidelines or recommendations. Only in the domains ‘Vascular & Ulcers’ (ie, non-pharmacological approach to digital ulcer), ‘PAH’ (ie, screening and treatment), ‘Treatment’ and ‘Juveniles’ (ie, evaluation of juveniles with Raynaud’s phenomenon) evidence-based and consensus-based guidelines could be included. Hence there is a preponderance of unmet needs in SSc referring to the diagnosis and (non-)pharmacological treatment of several SSc-specific complications. Patients with SSc experience significant uncertainty concerning SSc-related taxonomy, management (both pharmacological and non-pharmacological) and education. Day-to-day impact of the disease (loss of self-esteem, fatigue, sexual dysfunction, and occupational, nutritional and relational problems) is underestimated and needs evaluation.

scholarly journals Idiopathic inflammatory myopathies: state of the art on clinical practice guidelines

RMD Open ◽  
2019 ◽  
Vol 4 (Suppl 1) ◽  
pp. e000784 ◽  
Author(s):  
Alain Meyer ◽  
Carlo Alberto Scirè ◽  
Rosaria Talarico ◽  
Tobias Alexander ◽  
Zahir Amoura ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Clinical Practice Guidelines ◽  
Practice Guidelines ◽  
Unmet Needs ◽  
Musculoskeletal Diseases ◽  
Reference Network ◽  
Idiopathic Inflammatory Myopathies ◽  
Inflammatory Myopathies ◽  
European Reference Network ◽  
Multidisciplinary Working

Idiopathic inflammatory myopathies (IIMs) encompass a heterogeneous group of rare autoimmune diseases characterised by muscle weakness and inflammation, but in antisynthetase syndrome arthritis and interstitial lung disease are more frequent and often inaugurate the disease. Clinical practice guidelines (CPGs) have been proposed for IIMs, but they are sparse and heterogeneous. This work aimed at identifying: i) current available CPGs for IIMs, ii) patients ’ and clinicians’ unmet needs not covered by CPGs. It has been performed in the framework of the European Reference Network on rare and complex connective tissue and musculoskeletal diseases (ReCONNET), a network of centre of expertise and patients funded by the European Union’s Health Programme. Fourteen original CPGs were identified, notably recommending that: i) extra-muscular involvements should be assessed; ii) corticosteroids and methotrexate or azathioprine are first-line therapies of IIMs. ii) IVIG is a treatment of resistant-DM that may be also used in other resistant-IIMs; iii) physical therapy and sun protection (in DM patients) are part of the treatment; v) tumour screening for patients with DM include imaging of chest, abdomen, pelvis and breast (in woman) along with colonoscopy (in patients over 50 years); vi) disease activity and damages should be monitor using standardised and validated tools. Yet, only half of these CPGs were evidence-based. Crucial unmet needs were identified both by patients and clinicians. In particular, there was a lack of large multidisciplinary working group and of patients ’ preferences. The following fields were not or inappropriately targeted: diagnosis; management of extra-muscular involvements other than skin; co-morbidities and severe manifestations.

scholarly journals Educational aspects of rare and orphan lung diseases

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Tiago M. Alfaro ◽  
Marlies S. Wijsenbeek ◽  
Pippa Powell ◽  
Daiana Stolz ◽  
John R. Hurst ◽  
...  
Keyword(s):  
Lung Diseases ◽  
Healthcare Professionals ◽  
Treatment Options ◽  
Delayed Diagnosis ◽  
Reference Network ◽  
Delay In Diagnosis ◽  
Positive Effects ◽  
European Reference Network ◽  
Patient Representatives ◽  
Rare Lung Diseases

AbstractPeople with rare lung diseases often suffer the burden of delayed diagnosis, limited treatment options, and difficulties in finding expert physicians. One of the reasons for the delay in diagnosis is the limited training for healthcare practitioners on rare diseases. This review explores the main concerns and needs for education on rare lung diseases from the perspectives of both patients and professionals. Despite the increasing interest in rare lung disorders and some recent breakthrough developments on the management of several diseases, healthcare professionals, including general practitioners and hospital workers, receive little education on this topic. Nonetheless, many healthcare professionals show much interest in receiving further training, especially on diagnosis. Patients and families want easier access to high-quality education materials to help them manage their own disease. Well-educated patients are better equipped to deal with chronic diseases, but patient education can be challenging as patients’ individual health issues, and diverse backgrounds can create significant barriers. Raising more awareness for rare lung diseases and further development of patient-centred international expert networks like the European Reference Network on Rare Lung Diseases (ERN-LUNG), which includes both experts and patient representatives, are essential for improving care and education on rare lung diseases. Initiatives such as the Rare Disease Day, have been successful in increasing awareness for rare conditions. The development of online tools for accessing information has had positive effects and should be further supported and extended in the future.

scholarly journals eHealth for patients with rare diseases: the eHealth Working Group of the European Reference Network on Rare Multisystemic Vascular Diseases (VASCERN)

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Alessia Paglialonga ◽  
Raffaella Gaetano ◽  
Leema Robert ◽  
Marine Hurard ◽  
Luisa Maria Botella ◽  
...  
Keyword(s):  
Rare Diseases ◽  
Working Group ◽  
Vascular Diseases ◽  
Mobile App ◽  
Reference Network ◽  
Training And Education ◽  
Digital Platforms ◽  
Patient Organizations ◽  
European Reference Network ◽  
Strategic Assets

Abstract Background The European Reference Network on Rare Multisystemic Vascular Diseases (VASCERN) was launched in 2017 and involves, to date, 35 highly specialised multidisciplinary expert centres (from the 30 full Healthcare Provider members) coming from 11 countries and more than 70 patient organizations from 16 countries. The eHealth Working Group (WG) of VASCERN was set up to develop practical, patient-centred solutions and strategies for effective use of eHealth tools to answer the needs of patients with multisystemic vascular rare diseases. The eHealth WG Following the identified patients’ needs and following the guiding principles of collaboration and patient-centredness, the eHealth WG was created with the following aims: to develop a mobile app to help patients find expert centres and patient organizations, and to develop resources (Pills of Knowledge, PoK) for training and education via digital platforms (eLearning). The mobile app includes, to date, functionalities that allow users to find expert centres and patient organizations across Europe in the area of rare multisystemic vascular diseases. Discussed app developments include personalized digital patient passports, educational material, emergency management guidelines and remote consultations. Regarding training and education, a variety of PoK have been developed. The PoK cover several topics, target several user groups, and are delivered in various formats so that they are easy-to-use, easy-to-understand, informative, and viable for delivery and sharing through digital platforms (eLearning) including, e.g., the VASCERN YouTube™ channel. Conclusion Overall, the work carried out by the eHealth WG of VASCERN can be seen as a pilot experience that may serve as a basis to for collaborative development of patient-centred eHealth tools that answer the needs of patients with various rare diseases, not limited to rare multisystemic vascular diseases. By expanding the multidisciplinary approach here described, clinical and research networks can take advantage of eHealth services and use them as strategic assets in achieving the ultimate goal of ensuring equity of access to prevention programs, timely and accurate diagnosis and specialized care for patients with rare diseases throughout Europe.

scholarly journals Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes

2018 ◽  
Vol 18 (2) ◽  
pp. 281-284 ◽  
Author(s):  
Janet R. Vos ◽  
◽  
Lisette Giepmans ◽  
Claas Röhl ◽  
Nicoline Geverink ◽  
...  
Keyword(s):  
Hereditary Cancer ◽  
Reference Network ◽  
European Reference Network ◽  
Genetic Tumour

scholarly journals Dystonia Management: What to Expect From the Future? The Perspectives of Patients and Clinicians Within DystoniaNet Europe

2021 ◽  
Vol 12 ◽  
Author(s):  
Marenka Smit ◽  
Alberto Albanese ◽  
Monika Benson ◽  
Mark J. Edwards ◽  
Holm Graessner ◽  
...  
Keyword(s):  
Information Exchange ◽  
Wide Spectrum ◽  
Neurological Diseases ◽  
Evidence Base ◽  
Diagnostic Process ◽  
Reference Network ◽  
Novel Treatments ◽  
European Reference Network ◽  
Specialized Care ◽  
The Central Nervous System

Improved care for people with dystonia presents a number of challenges. Major gaps in knowledge exist with regard to how to optimize the diagnostic process, how to leverage discoveries in pathophysiology into biomarkers, and how to develop an evidence base for current and novel treatments. These challenges are made greater by the realization of the wide spectrum of symptoms and difficulties faced by people with dystonia, which go well-beyond motor symptoms. A network of clinicians, scientists, and patients could provide resources to facilitate information exchange at different levels, share mutual experiences, and support each other's innovative projects. In the past, collaborative initiatives have been launched, including the American Dystonia Coalition, the European Cooperation in Science and Technology (COST—which however only existed for a limited time), and the Dutch DystonieNet project. The European Reference Network on Rare Neurological Diseases includes dystonia among other rare conditions affecting the central nervous system in a dedicated stream. Currently, we aim to broaden the scope of these initiatives to a comprehensive European level by further expanding the DystoniaNet network, in close collaboration with the ERN-RND. In line with the ERN-RND, the mission of DystoniaNet Europe is to improve care and quality of life for people with dystonia by, among other endeavors, facilitating access to specialized care, overcoming the disparity in education of medical professionals, and serving as a solid platform to foster international clinical and research collaborations. In this review, both professionals within the dystonia field and patients and caregivers representing Dystonia Europe highlight important unsolved issues and promising new strategies and the role that a European network can play in activating them.

Sign in / Sign up

Export Citation Format

Share Document