Ocular Manifestations in Juvenile Behçet’s Disease: A Registry-Based Analysis from the AIDA Network

Autor: Carla Gaggiano, Abdurrahman Tufan, Silvana Guerriero, Gaafar Ragab, Jurgen Sota, Stefano Gentileschi, Stefania Costi, Ibrahim A. Almaghlouth, Andrea Hinojosa-Azaola, Samar Tharwat, Petros P. Sfikakis, Giuseppe Lopalco, Matteo Piga, Giovanni Conti, George Fragoulis, Angela Mauro, Ezgi D. Batu, Seza Ozen, Maria Tarsia, Francesco La Torre, Perla A. Kawakami-Campos, Antonio Vitale, Valeria Caggiano, Riza C. Kardaş, Gian Marco Tosi, Bruno Frediani, Tadej Avčin, José Hernández-Rodríguez, Luca Cantarini, Claudia Fabiani, the AIDA Network

Publikováno v: Ophthalmology and Therapy, Vol 13, Iss 6, Pp 1479-1498 (2024)

Abstract Introduction This study aims to characterize ocular manifestations of juvenile Behçet’s disease (jBD). Methods This was a registry-based observational prospective study. All subjects with jBD from the Autoinflammatory Diseases Alliance (A

Externí odkaz: https://doaj.org/article/67749e8fdaa44817aea9eccb95aa939d

National registry for amyotrophic lateral sclerosis: a systematic review for structuring population registries of motor neuron diseases

Autor: Ingridy Barbalho, Ricardo Valentim, Mário Dourado Júnior, Daniele Barros, Hércules Pedrosa Júnior, Felipe Fernandes, César Teixeira, Thaísa Lima, Jailton Paiva, Danilo Nagem

Publikováno v: BMC Neurology, Vol 21, Iss 1, Pp 1-12 (2021)

Abstract Background This article comprises a systematic review of the literature that aims at researching and analyzing the frequently applied guidelines for structuring national databases of epidemiological surveillance for motor neuron diseases, es

Externí odkaz: https://doaj.org/article/8a6e97c9ce444465b2ea1f9d5e83dbff

Variability and trends in corticosteroid use by male United States participants with Duchenne muscular dystrophy in the Duchenne Registry

Autor: Leslie Cowen, Maria Mancini, Ann Martin, Ann Lucas, Joanne M. Donovan

Publikováno v: BMC Neurology, Vol 19, Iss 1, Pp 1-10 (2019)

Abstract Background Treatment options for Duchenne muscular dystrophy remain limited, although consensus treatment guidelines recommend corticosteroid use. Methods This retrospective analysis assessed corticosteroid use in ambulatory and nonambulator

Externí odkaz: https://doaj.org/article/aa0d6e0475214eea968236f5b2889c3d

Patients’ priorities and expectations on an EU registry for rare bone and mineral conditions

Autor: N Appelman-Dijkstra, M. Boarini, Luca Sangiorgi, Muhammad Javaid, I Alves, Ernbondwg., R. Skarberg, M Mordenti, I Westerheim, C Graasemann

Publikováno v: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Leiden University Erasmus MC 2021, ' Patients’ priorities and expectations on an EU registry for rare bone and mineral conditions ', Orphanet Journal of Rare Diseases, vol. 16, no. 1, 463 . https://doi.org/10.1186/s13023-021-02069-9
Orphanet Journal of Rare Diseases, 16(1). BMC
Orphanet Journal of Rare Diseases

Background Understanding the natural history of rare bone and mineral conditions is essential for improving clinical practice and the development of new diagnostics and therapeutics. Recruitment and long-term participation in registries are key chall

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc9a1e81b9d508f97a3c3adbd0da76de
https://doaj.org/article/164bf1ebabe745438f86281f9fc1a1cd

Design of a framework for the deployment of collaborative independent rare disease-centric registries: Gaucher disease registry model

Autor: Jack Goldblatt, Nikolajs Zeps, Matthew I. Bellgard, Alan H. Bittles, Jeff Szer, Kathryn R. Napier, Sue Fletcher, Adam Hunter

Publikováno v: Blood Cells, Molecules & Diseases

Orphan drug clinical trials often are adversely affected by a lack of high quality treatment efficacy data that can be reliably compared across large patient cohorts derived from multiple governmental and country jurisdictions. It is critical that th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c0d49e376509f88ef7480d1a3247d4f
http://europepmc.org/articles/PMC5729019