RARE diseasesEPIDEMIOLOGYLinked article: R. Baardman et al. J Eur Acad Dermatol Venereol 2021; 35: 995–1006. https://doi.org/10.1111/jdv.17012.doi:10.1111/jdv.17165L. Bruckner㏕udermanJournal of the European Academy of Dermatology and Venereology...
The Rare Diseases Epidemiology book is a comprehensive text focused on the rare disease field where both general epidemiological methods and specific methods for low prevalence diseases are discussed. This is the first book to address rare diseases as a public health problem where the epidemiological ...
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glaucoma was observed in 29% (11 eyes) and was in the context of microphthalmic eyes in 4 patients [54]. Table2is a summary of the epidemiology and percentage of glaucoma in rare diseases leading
Incidence and prevalence of systemic sclerosis: a systematic literature review. Semin Arthritis Rheum. 2008;37(4):223–35. https://doi.org/10.1016/j.semarthrit.2007.05.003. Article PubMed Google Scholar Silman AJ. In: Silman AJ, Hochberg MC, editors. Epidemiology of the rheumatic diseases. ...
Significant advances in the treatment of transthyretin (ATTR) amyloidosis has led to an evolving understanding of the epidemiology of this condition. This systematic literature review (SLR) aims to synthesize current evidence on epidemiology and mortalit
Functional mapping and annotation of genetic associations with FUMA. Nat. Commun. 8, 1826 (2017). Article ADS PubMed PubMed Central Google Scholar Zhong, H. & Prentice, R. L. Correcting “winner’s curse” in odds ratios from genomewide association findings for major complex human diseases...
Because of their individual rarity, genetic diseases and other types of rare diseases are under-represented in healthcare coding systems; this contributes to a lack of ascertainment and recognition of their importance for healthcare planning and resource allocation, and prevents clinical research from ...
Along with the positive trends in the field of rare diseases, there are still issues related to diagnosis and inequal care for some patients groups that should be solved over the next decade. The innovative digital health methods, which have been improved continuously in the recent years, ...
Diagnosis is difficult due to its similarity to malignancy, nocardiosis and other granulomatous diseases. This systematic review aimed to evaluate the epidemiology, clinical characteristics, diagnostic modalities and treatment outcomes in CNS actinomycosis. Methods The major electronic databases (PubMed, ...