scholarly journals Congenital hypothyroidism: a 2020 consensus guidelines update An ENDO-EUROPEAN REFERENCE NETWORK (ERN) initiative endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology

Thyroid ◽  
2020 ◽  
Author(s):  
Adrianus Sarinus van Trotsenburg ◽  
Athanasia Stoupa ◽  
Juliane Léger ◽  
Tilman Robert Rohrer ◽  
Catherine Peters ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
European Society ◽  
Reference Network ◽  
Consensus Guidelines ◽  
Pediatric Endocrinology ◽  
European Reference Network

scholarly journals Consensus guidelines of congenital hypothyroidism by the European Society for pediatric endocrinology and the European Society for Endocrinology: key points and comments

2021 ◽  
Vol 17 (2) ◽  
pp. 4-12
Author(s):  
E. V. Shreder ◽  
T. Y. Shiryaeva ◽  
E. V. Nagaeva ◽  
O. B. Bezlepkina
Keyword(s):  
Congenital Hypothyroidism ◽  
European Society ◽  
Neonatal Screening ◽  
Clinical Problem ◽  
Consensus Guidelines ◽  
Pediatric Endocrinology ◽  
Pediatric Practice ◽  
Key Points ◽  
Screening Diagnostics

Congenital hypothyroidism is an actual clinical problem in pediatric practice. Previous clinical guidelines were published in 2014. The presented clinical recommendations are based on articles published from January 2013 to early 2020. The consensus guidelines include such sections as results of neonatal screening, diagnostics and criteria for treatment, lifelong follow-up, genetics of congenital hypothyroidism, family genetic counselling. The key points of new congenital hypothyroidism guidelines were commented by pediatric endocrinologists of Russians.

scholarly journals European Society for Paediatric Endocrinology Consensus Guidelines on Screening, Diagnosis, and Management of Congenital Hypothyroidism

2014 ◽  
Vol 81 (2) ◽  
pp. 80-103 ◽  
Author(s):  
Juliane Léger ◽  
Antonella Olivieri ◽  
Malcolm Donaldson ◽  
Toni Torresani ◽  
Heiko Krude ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
European Society ◽  
Consensus Guidelines ◽  
Diagnosis And Management ◽  
Paediatric Endocrinology

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 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 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.

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