. Conca W, Ghatasheh G, Al-Salam S, Neidl Van Gorkom K. The medical odyssey of a boy with arthritis of familial Mediterranean fever. Int J Rheum Dis. 2012;15:37--9. . Lidar M, Kedem R, Mor A, Levartovsky D, Langevitz P, Livneh A. Arthritis as the sole episodic manifestation of familial Mediterranean fever. J Rheumatol. 2005;32:859--62. . Majeed HA, Rawashdeh M. The clinical patterns of arthriti...

background: systemic-onset juvenile idiopathic arthritis (sojia) is an autoinflammatory disease with complex genetic trait starts in children less than 16 years of age with fever and cutaneous rash. despite, the main genetic factors that may play a role in sojia have not yet been identified. high level of interleukin-1beta in the blood of sojia patients has been reported. the production and sec...

BACKGROUND Familial Mediterranean fever is an autoinflammatory disease of unknown etiology, characterized clinically by recurrent attacks of sudden-onset fever with arthralgia and/or thoracoabdominal pain and pathogenetically by autosomal recessive inheritance due to a mutation in the MEFV gene. Behçet's disease is an inflammatory disease characterized by recurrent oral and genital aphthous ulc...

A study of the molecular lesions of beta-thalassemia in Lebanon revealed the presence of eight different mutations in 25 patients with Cooley's anemia. The IVS1 position 110 mutation predominated with a frequency of 62% and was almost invariably associated with Mediterranean chromosome haplotype I. Five other mutations commonly found in the Mediterranean area occurred with frequencies of 2% to ...

The last two years have been marked by many studies trying to better characterize the clinical features of FMF in children and proposal of new treatment for those who are resistant to colchicine. In addition, many studies tried to address the potential effect of genetic modifiers on FMF and the potential effect of MEFV mutations on other inflammatory diseases. The main points arose from these s...

Familial Mediterranean fever (FMF) is an autosomal recessive disorder primarily affecting the Mediterranean populations. It is characterized by recurrent attacks of fever and inflammation of serosal membranes and gradual development of nephropathic amyloidosis. More than 70 disease-associated mutations have been identified in the Mediterranean fever gene (MEFV) responsible for FMF. The aim of t...

glucose-6-phosphate dehydrogenase (g6pd) enzyme catalyses the first step in pentose phosphate pathway (conversion of glucose-6-phosphat to 6-phospho gluconat) which provides cells with pentoses and reduction power in the form of nadph. in the present study we have analyzed the g6pd gene mutations in 76 patients with a history of favism in khorasan province in iran. dna samples were analyzed for...

OBJECTIVES To identify the frequency and distribution of familial Mediterranean fever (FMF) gene (MEFV) mutations among Azeri Turkish patients from northwestern Iran. METHODS One hundred ninety unrelated patients were referred by specialists to the Molecular-Medical Genetic Center of Tabriz. A clinical diagnosis of FMF was made according to published criteria. Mutation screening of the MEFV g...

Nephrogenic adenoma, also referred to nephrogenic metaplasia, is a benign proliferative lesion of urothelium, usually associated with chronic physical stimuli or inflammation. Familial Mediterranean fever is an inherited autosomal recessive disease characterized by recurrent short episodes of fever. The site of mutation is found in MEFV gene which controls inflammatory responses. We have experi...

Male infertility is a common barrier that prevents successful conception. There have been reports of azoospermia in men with familial Mediterranean fever, some of whom had not been treated with colchicine. Variation in this disorder could be a risk factor for amyloidosis associated with azoospermia. We determined the frequency of 6 of the most common Mediterranean fever gene mutations, M680I, M...