OBJECTIVE This study assessed the early changes in regional and global systolic and diastolic myocardial functions in patients with familial Mediterranean fever without any cardiovascular symptoms using tissue Doppler and strain and strain rate echocardiography and compared them to the results of a control group. METHODS This study has a cross-sectional and observational design. FMF patients ...

Familial Mediterranean fever (FMF) is a genetic autoinflammatory disease characterized by recurrent fever with serosal inflammation. We experienced a 53-year-old male who had been suffering from periodic attacks with slight fever and myalgia which were mainly triggered by cold exposure in winter. Although his clinical course did not satisfy the criteria for familial Mediterranean fever, heteroz...

glucose-6-phosphate dehydrogenase (g6pd) is a greatly polymorphic enzyme encoded by human x-linked gene. g6pd deficit is the most public enzymopathy in human with about 400 million people affected globally. it is the main controlling enzyme in the hexose monophosphate shunt catalase the oxidation of glucose-6-phosphate  to 6-phosphogluconolacton and the creation of reducing equals in the form o...

A study of the molecular lesions of fl-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 8%...

Introduction Familial Mediterranean fever (FMF)(MIM 249100) is a hereditary autoinflammatory disorder characterized by episodes of inflammation in the absence of high-titer autoantibodies or antigen-specific T cells. The Mediterranean fever (MEFV) gene(OMIM 608107) located on chromosome 16p13.3, which encodes the 781-amino-acid protein pyrin, is the causative gene for this monogenic Mendelian d...

ABSTRACT Two female patients, aged 23 and 25 years-old diagnosed with Familial Mediterranean fever (FMF) were presented with ataxia and headache. Multiple sclerosis plaques were detected in their spinal and cranial MRI and diagnosis of multiple sclerosis was established. Genetic analysis demonstrated M694 V mutation (one homozygous and the other heterozygous) in both of the patients. Although i...

Introduction Familial Mediterranean fever (FMF) is an autosomal recessive disease, mainly affecting Jews, Armenians, Turks, Arabs and other groups living around Mediterranean basin. Major symptoms of disease are recurrent periodic fever accompanied by serositis. The disease is usually diagnosed at ages less than 20 years. Onset of the disease at older age can rarely occur. Symptoms related to F...

A method is proposed to locate any new autosomal and recessive mutation in the Mediterranean fruit fly, Ceratitis capitata (Wied.). A series of crosses searches for pseudo-linkage between sex and the mutation by employing three strains with Y-linked translocations, thereby indicating its chromosome location.