Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)
Ημερομηνία
2020Γλώσσα
en
Λέξη-κλειδί
Επιτομή
Background: International patient registries are of particular importance for rare disorders, as they may contribute to overcome the lack of knowledge derived from low number of patients and limited awareness of these diseases, and help to learn more about their geographical or population-based specificities, which is relevant for research purposes and for promoting better standards of care and diagnosis. Our objective was to create and implement a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC) and to disseminate the knowledge of these disorders. Results: Teams from nine different countries (United Kingdom, Spain, Italy, France, Germany, Denmark, Greece, Turkey and USA) created a consortium that developed the first European registry dedicated to rare muscle glycogenoses. A work plan was implemented to design the database and platform that constitute the registry, by choosing clinical, genetics and molecular variables of interest, based on experience gained from previous national registries for similar metabolic disorders. Among dissemination activities, several teaching events were organized in different countries, especially those where the consortium considered the awareness of these diseases needs to be promoted among health professionals and patients. Conclusion: EUROMAC represents a step forward in the knowledge of those disorders to which it is dedicated, and will have relevant clinical outcomes at the diagnostic, epidemiological, clinical and research level. © 2020, The Author(s).
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Milicevic M.M., Sarmiento-Suarez R., Sartorius B., Satpathy M., Savic M., Sawhney M., Saylan M.I., Schöttker B., Schutte A.E., Schwebel D.C., Seedat S., Seid A.M., Seifu C.N., Sepanlou S.G., Serdar B., Servan-Mori E.E., Setegn T., Shackelford K.A., Shaheen A., Shahraz S., Shaikh M.A., Shakh-Nazarova M., Shamsipour M., Shariful Islam S.M., Sharma J., Sharma R., She J., Sheikhbahaei S., Shen J., Shi P., Shigematsu M., Shin M.-J., Shiri R., Shoman H., Shrime M.G., Sibamo E.L.S., Sigfusdottir I.D., Silva D.A.S., Silveira D.G.A., Sindi S., Singh A., Singh J.A., Singh O.P., Singh P.K., Singh V., Sinke A.H., Sinshaw A.E., Skirbekk V., Sliwa K., Smith A., Sobngwi E., Soneji S., Soriano J.B., Sousa T.C.M., Sposato L.A., Sreeramareddy C.T., Stathopoulou V., Steel N., Steiner C., Steinke S., Stokes M.A., Stranges S., Strong M., Stroumpoulis K., Sturua L., Sufiyan M.B., Suliankatchi R.A., Sun J., Sur P., Swaminathan S., Sykes B.L., Tabarés-Seisdedos R., Tabb K.M., Taffere G.R., Talongwa R.T., Tarajia M., Tavakkoli M., Taveira N., Teeple S., Tegegne T.K., Tehrani-Banihashemi A., Tekelab T., Tekle D.Y., Temam Shifa G., Terkawi A.S., Tesema A.G., Thakur J.S., Thomson A.J., Tillmann T., Tiruye T.Y., Tobe-Gai R., Tonelli M., Topor-Madry R., Tortajada M., Troeger C., Truelsen T., Tura A.K., Uchendu U.S., Ukwaja K.N., Undurraga E.A., Uneke C.J., Uthman O.A., Van Boven J.F.M., Van Dingenen R., Varughese S., Vasankari T., Venketasubramanian N., Violante F.S., Vladimirov S.K., Vlassov V.V., Vollset S.E., Vos T., Wagner J.A., Wakayo T., Waller S.G., Walson J.L., Wang H., Wang Y.-P., Watkins D.A., Weiderpass E., Weintraub R.G., Wen C.-P., Werdecker A., Wesana J., Westerman R., Whiteford H.A., Wilkinson J.D., Wiysonge C.S., Woldeyes B.G., Wolfe C.D.A., Won S., Workicho A., Workie S.B., Wubshet M., Xavier D., Xu G., Yadav A.K., Yaghoubi M., Yakob B., Yan L.L., Yano Y., Yaseri M., Yimam H.H., Yip P., Yonemoto N., Yoon S.-J., Younis M.Z., Yu C., Zaidi Z., El Sayed Zaki M., Zambrana-Torrelio C., Zapata T., Zenebe Z.M., Zodpey S., Zoeckler L., Zuhlke L.J., Murray C.J.L., GBD 2015 Healthcare Access and Quality Collaborators (2017)Background National levels of personal health-care access and quality can be approximated by measuring mortality rates from causes that should not be fatal in the presence of effective medical care (ie, amenable mortality). ... -
SARS-CoV-2 pathophysiology and its clinical implications: An integrative overview of the pharmacotherapeutic management of COVID-19
Tsatsakis A., Calina D., Falzone L., Petrakis D., Mitrut R., Siokas V., Pennisi M., Lanza G., Libra M., Doukas S.G., Doukas P.G., Kavali L., Bukhari A., Gadiparthi C., Vageli D.P., Kofteridis D.P., Spandidos D.A., Paoliello M.M.B., Aschner M., Docea A.O. (2020)Common manifestations of COVID-19 are respiratory and can extend from mild symptoms to severe acute respiratory distress. The severity of the illness can also extend from mild disease to life-threatening acute respiratory ...