Results 41 to 50 of about 35,452 (278)

Natural history and outcome in systemic AA amyloidosis [PDF]

, 2007
BACKGROUND:Deposition of amyloid fibrils derived from circulating acute-phase reactant serum amyloid A protein (SAA) causes systemic AA amyloidosis, a serious complication of many chronic inflammatory disorders.
Gallimore, JR, Gilbertson, JA, Gillmore, JD, Goodman, HJB, Hawkins, PN, Lachmann, HJ, Sabin, CA   +6 more
core   +1 more source

Defining colchicine resistance/intolerance in patients with familial Mediterranean fever: a modified-Delphi consensus approach.

Rheumatology, 2020
OBJECTIVES Colchicine is the main treatment for familial Mediterranean fever (FMF). Although a number of individuals with FMF are intolerant/resistant to colchicine, there is no standard definition of colchicine resistance/intolerance. We developed a set
S. Özen, E. Sağ, E. Ben-Chetrit, M. Gattorno, A. Gül, P. Hashkes, I. Koné-Paut, H. Lachmann, E. Tsitsami, M. Twilt, F. De Benedetti, J. Kuemmerle-Deschner   +11 more
semanticscholar   +1 more source

Comparison of optical coherence tomography angiography results of adult patients with Familial Mediterranean fever and healthy individuals

Therapeutic Advances in Ophthalmology, 2019
Purpose: The aim of this study is to assess the macular ultrastructure measuring by optical coherence tomography angiography in adult patients with Familial Mediterranean fever.
Emine Esra Karaca, Dilay Ozek, Ahmet Omma, Ozlem Evren Kemer   +3 more
doaj   +1 more source

Living kidney transplantation between brothers with unrecognized renal amyloidosis as the first manifestation of familial Mediterranean fever: a case report

BMC Medical Genetics, 2017
Background Familial Mediterranean fever is an autosomal recessive disease characterized by recurrent episodes of fever and polyserositis and by the onset of reactive amyloid-associated amyloidosis. Amyloidosis due to familial Mediterranean fever can lead
Ramón Peces, Sara Afonso, Carlos Peces, Julián Nevado, Rafael Selgas   +4 more
doaj   +1 more source

Clinical and genetic characteristics of familial Mediterranean fever-associated vasculitides in children of Armenia

Научно-практическая ревматология, 2020
Family Mediterranean fever (FMF), or a periodic disease, is the most common hereditary disease among Armenians. FMF manifests mainly in childhood, presenting a significant problem for the pediatric health care system in Armenia.
G. G. Amaryan, T. F. Sarkisian, A. E. Tadevosyan   +2 more
doaj   +1 more source

Concurrent TNFRSF1A R92Q and pyrin E230K mutations in a child with multiple sclerosis [PDF]

, 2010
We report a 16-year-old female patient with a severe course of multiple sclerosis and concomitant symptoms suggestive of a hereditary autoinflammatory disease.
Blaschek, Astrid, Borggraefe, I., Heinen, F., Hohlfeld, R., Huss, K., Kümpfel, T., Lohse, P., Mueller-Felber, W.   +7 more
core   +1 more source

Clinical and functional characterisation of a novel TNFRSF1A c.605T > A/V173D cleavage site mutation associated with tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS), cardiovascular complications and excellent response to etanercept treatment. [PDF]

, 2008
Objectives: To study the clinical outcome, treatment response, T-cell subsets and functional consequences of a novel tumour necrosis factor (TNF) receptor type 1 (TNFRSF1A) mutation affecting the receptor cleavage site.
B H Belohradsky, C Dejaco, C Duftner, K Huss, M Herold, M Schirmer, P Lohse, S Stojanov   +7 more
core   +1 more source

Blood-based test for diagnosis and functional subtyping of familial Mediterranean fever

Annals of the Rheumatic Diseases, 2020
Background and objective Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease (AID) worldwide. The disease is caused by mutations in the MEFV gene encoding the inflammasome sensor Pyrin.
H. Van Gorp, Linyan Huang, Pedro H. V. Saavedra, M. Vuylsteke, Tomoko Asaoka, G. Prencipe, A. Insalaco, B. Ogunjimi, Jerold Jeyaratnam, Ilaria Cataldo, P. Jacques, K. Vermaelen, M. Dullaers, R. Joos, V. Sabato, A. Stella, J. Frenkel, F. De Benedetti, J. Dehoorne, F. Haerynck, G. Calamita, P. Portincasa, M. Lamkanfi   +22 more
semanticscholar   +1 more source

Amyloidosis in familial Mediterranean fever patients: correlation with genotype and and polymorphisms effects [PDF]

, 2004
Background Familial mediterranean fever (FMF) is a recessively inherited disease characterized by recurrent crises of fever, abdominal, articular and/or thoracic pain. The most severe complication is the development of renal amyloidosis.
Loiselet Jacques, Lefranc Gérard, Rawashdeh Mohammed, Salem Nabiha, Chouery Eliane, Delague Valérie, Medlej-Hashim Myrna, Mégarbané André   +7 more
core   +1 more source

Comorbidities in familial Mediterranean fever: analysis of 2000 genetically confirmed patients.

Rheumatology, 2020
OBJECTIVES FMF is the most common periodic fever syndrome, characterized by recurrent episodes of fever and serosal inflammation accompanied with high acute phase reactants.
B. Balcı-Peynircioğlu, Ümmüşen Kaya-Akça, Z. S. Arici, E. Avci, Z Yeliz Akkaya-Ulum, Ö. Karadağ, U. Kalyoncu, Y. Bilginer, E. Yılmaz, S. Özen   +9 more
semanticscholar   +1 more source