Results 71 to 80 of about 5,699 (211)
Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.ABSTRACT Natural‐history datasets have become pivotal for drug development and for shaping clinical‐practice guidelines in rare diseases, yet many lysosomal storage disorders would benefit from deep phenotyping and modern analytic methods. Our objective was to integrate the past decade of genomic, cellular, treatment‐outcome, and regulatory advances ...
Noor Ul Ain +2 more
wiley +1 more source
Clinical Medicine Insights: Case Reports, 2018 Familial Mediterranean fever (FMF) is characterized by recurrent episodes of fever accompanied by serosal, synovial, or cutaneous inflammation. The central nervous system (CNS) is rarely involved in FMF. The CNS involvement includes demyelinating lesions,
Miramir Aghdashi +3 more
doaj +1 more source
Case Reports in Ophthalmological Medicine, Volume 2026, Issue 1, 2026.Introduction Bardet–Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy with at least 26 identified causative genes. BBS7 accounts for approximately 1.5% of cases. The syndrome is characterized by retinal degeneration, obesity, polydactyly, intellectual disability, and renal anomalies.
Ibrahim Taha +9 more
wiley +1 more source
Dermatologic Therapy, Volume 2026, Issue 1, 2026.Background Hidradenitis suppurativa (HS) is a chronic inflammatory skin disease associated with significant morbidity and a reduction in the quality of life. Recent studies report an increased prevalence of systemic inflammatory comorbidities, including arthralgia and spondyloarthropathy (SA), among HS patients.
Tuğba Tehçi +3 more
wiley +1 more source
38-year-old woman with recurrent abdominal pain, but no fever
International Journal of General Medicine, 2012 Kentaro Iwata1, Tomoko Toma2, Akihiro Yachie21Department of Infectious Diseases, Kobe University Hospital, Kobe, Japan; 2Department of Pediatrics, Graduate School of Medical Science and School of Medicine, Kanazawa University, Kanazawa, JapanAbstract: A ...
Iwata K, Toma T, Yachie A
doaj
Familial Mediterranean fever in northwest of Iran (Ardabil): The first global report from Iran [PDF]
Familial Mediterranean fever (FMF), which is the prototype of the hereditary periodic fever syndromes, is common in the countries around the Mediterranean Sea. Considering its geographical position in the northwest of Iran, with its population of Turkish
فیضی, ایرج +10 more
core
Is familial Mediterranean fever (FMF) common in patients with negative appendectomy?
, 2013 Familial Mediterranean fever (FMF) is an autosomal-recessive disease characterized by recurrent attacks of fever with serositis. Differential diagnosis of a FMF abdominal attack with acute abdomen is difficult. Acute appendicitis is the most common cause
Karabicak, Ilhan +7 more
core +1 more source
Evaluation of the Effect of IL‐1 Antagonists on Pituitary Function
International Journal of Endocrinology, Volume 2026, Issue 1, 2026.Background Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease frequently observed in populations along the Eastern Mediterranean coast, characterized by recurrent fever, abdominal pain, and joint inflammation. The disease results from mutations in the MEFV gene, which plays a critical role in regulating IL‐1β secretion ...
Fadime Aktas Koc +3 more
wiley +1 more source
Biomedical Chromatography, Volume 39, Issue 11, November 2025.ABSTRACT Colchicine is a naturally occurring alkaloid primarily derived from plants of the Colchicum genus, which is used to treat gout and serve as a frontline therapy for various inflammatory conditions, including familial Mediterranean fever. Although it is not recommended for routine therapeutic drug monitoring, there are situations where it may be
Nela Žideková +5 more
wiley +1 more source
DAPSONE AS AN ALTERNATIVE THERAPY IN CHILDREN WITH FAMILIAL MEDITERRANEAN FEVER [PDF]
Objective: Familial Mediterranan Fever is an hereditary autoinflammatory disease that presents with recurrent febrile attacks and poly serositis. Colchicine is the only known treatment in this diease.
صالح زاده, فرهاد +2 more
core