Results 21 to 30 of about 42,983 (297)
A novel unstable duplication upstream of HAS2 predisposes to a breed-defining skin phenotype and a periodic fever syndrome in Chinese Shar-Pei dogs. [PDF]
Hereditary periodic fever syndromes are characterized by recurrent episodes of fever and inflammation with no known pathogenic or autoimmune cause. In humans, several genes have been implicated in this group of diseases, but the majority of cases remain ...
Mia Olsson +23 more
doaj +1 more source
Synchronous disease onset and flares in siblings with PFAPA
Background Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) is a clinical syndrome of unclear etiology. PFAPA has generally been considered a non-hereditary fever syndrome; however, this has been called into question with ...
Kristen L. Dammeyer +3 more
doaj +1 more source
TNFRSF1A gene variant identified in a boy with recurrent episodes of fever [PDF]
Introduction. Fever of unknown origin is an important diagnostic challenge. Although rare, periodic fever syndromes may often present with a chronic or recurrent febrile condition with a variable temporal pattern of occurrence.
Janković Srđa +3 more
doaj +1 more source
Background: fever of unknown origin (FUO) is defined as a fever with no etiologic diagnosis after standardized investigations performed during 3 days in hospital or after at least 3 ambulatory visits.
Nicola Nicolotti +5 more
doaj +1 more source
Recognition of IgD and Periodic Fever [PDF]
Contains fulltext : 22858___.PDF (Publisher’s version ) (Open Access)
Drenth, J.P.H. +2 more
openaire +5 more sources
Objective. Familial Mediterranean fever (FMF) is an autosomal recessive disease due to a MEFV gene mutation. Since Helicobacter pylori infection has been described to increase the severity and frequency of FMF attacks, we evaluate if overgrowth of small ...
E. Verrecchia +8 more
doaj +1 more source
Anderson-Fabry’s Disease: A Rare but Treatable Case of Fever of Unknown Origin
Anderson-Fabry’s disease (AFD) is a rare, X-linked lysosomal storage disorder caused by the complete deficiency or attenuated activity of the enzyme α-galactosidase A, leading to progressive systemic intracellular accumulation of glycosphingolipids and ...
Francesca Graziani +7 more
doaj +1 more source
PFAPA (periodic fever, aphthous stomatitis, pharyngitis, and cervical lymphadenopathy) syndrome usually presents in childhood and one of the most common periodic fever syndromes.
Yuksel Toplu +3 more
doaj +1 more source
The use of an interleukin 1 inhibitor in a patient with atypical course of periodic fever
The article presents a case of periodic fever (PF) in a 35-year-old patient, who did not have hereditary and proven genetic factors of the disease, which was characterized by an atypical course with variable in duration and frequency severe abdominal ...
M. S. Eliseev +10 more
doaj +1 more source
Cardiovascular manifestations of monogenic periodic fever syndromes
© 2023, The Author(s), under exclusive licence to International League of Associations for Rheumatology (ILAR).Periodic fever syndromes (PFS) are a group of autoinflammatory diseases characterized by repeated febrile episodes and systemic inflammation ...
BATU AKAL, EZGİ DENİZ +5 more
core +1 more source

