Zobrazeno 1 - 10
of 243
pro vyhledávání: '"Rare disorder"'
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
Abstract Background Before COVID-19, people with rare diseases (RD) experienced numerous disparities in quality of life and healthcare access and quality, yet little is known about the experiences of this underserved group during the pandemic. Result
Externí odkaz:
https://doaj.org/article/5129492c62434563ab7d884a26b6b9cf
Autor:
Katherine A. Rauen, William E. Tidyman
Publikováno v:
Disease Models & Mechanisms, Vol 17, Iss 6 (2024)
Externí odkaz:
https://doaj.org/article/6482ac10005546bb8f0801ed14b9c1a4
Autor:
Sara S. Jdiaa, Jad A. Degheili, Charbel F. Matar, Michele F. Mocadie, Chirine S. Khaled, Aline M. El Zakhem
Publikováno v:
African Journal of Urology, Vol 29, Iss 1, Pp 1-6 (2023)
Abstract Background Malakoplakia is a rare granulomatous inflammatory condition that can affect immunosuppressed patients. The genitourinary system is the most involved organ. We present a case of kidney failure caused by obstructing bladder lesions,
Externí odkaz:
https://doaj.org/article/d4eb4a7f032b479188f19dab7a005924
Autor:
Solrun Sigurdardottir, Charlotte von der Lippe, Line Media, Jeanette Ullmann Miller, Erlend Christoffer Sommer Landsend
Publikováno v:
Health Psychology and Behavioral Medicine, Vol 11, Iss 1 (2023)
ABSTRACTBackground Congenital aniridia is a rare genetic disorder of the eye characterized by visual impairment and progressive vision loss. While prior research has focused on ocular manifestations in individuals with aniridia, there is a dearth of
Externí odkaz:
https://doaj.org/article/2dc277f420c34aec8826853f9b4dd2ea
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 23, Iss 1, Pp 1-7 (2022)
Abstract Background Mutations of the human FAM111B gene are associated with hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis (POIKTMP), a rare and autosomal dominant multi-systemic fibrosing disease. To date
Externí odkaz:
https://doaj.org/article/65b4216de284407a82dc9c8f4354de47
Autor:
Jagdish Chander Mohan, Jamshed Dalal, Vijay Kumar Chopra, Calambur Narasimhan, Prafulla Kerkar, Abraham Oomman, Saumitra Ray Fcsi, Anshu Rajnish Sharma, Pankaj Dougall, Shelley Simon, Atul Verma Drm, Vivek Radhakrishnan
Publikováno v:
Indian Heart Journal, Vol 74, Iss 6, Pp 441-449 (2022)
Transthyretin cardiac amyloidosis (ATTR-CM) is a rare and under-recognized disorder characterized by the aggregation of transthyretin-derived insoluble amyloid fibrils in the myocardium. Heterogeneity of symptoms at presentation, makes its diagnosis
Externí odkaz:
https://doaj.org/article/6c32440f26914cd3abf3eb45ca5a66ef
Autor:
Tanzil Rujeedawa, Nora McNairney, Shelly Cordner, James O’Brien, Georgina Loughnan, Anthony Holland
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-8 (2022)
Abstract Background People with rare disorders face significant global health inequalities; the challenge is how to raise awareness and develop a nucleus of experts in a country who are then able to provide guidance to others in that country. The Int
Externí odkaz:
https://doaj.org/article/c82e34eb00294168bfb31ec6855075fd
Autor:
Yan Tereshko, Simone Dal Bello, Christian Lettieri, Enrico Belgrado, Giovanni Merlino, Gian Luigi Gigli, Mariarosaria Valente
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
Nummular headache is an unusual facial pain disorder with no evidence-based therapy recommendations. The ketogenic diet is an alternative therapy that demonstrated to be effective in migraineurs, but it was never used in the setting of nummular heada
Externí odkaz:
https://doaj.org/article/2a1ca13796564ac4a99c31b7550b9b2b
Akademický článek
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Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-15 (2022)
Abstract Background Experienced fatigue is an under-recognized and under-researched feature in persons with many different rare diseases. A better overview of the characteristics of existing research on experienced fatigue in children and adults with
Externí odkaz:
https://doaj.org/article/593e356afbf84dbbad651cd30f35b887