BACKGROUND Familial Mediterranean fever is an autosomal recessive disease characterized by recurrent attacks of fever and serositis. The disease is caused by mutations in the MEFV gene, presumed to act as a down-regulator of inflammation within the polymorphonuclear cells. OBJECTIVES To present the results of 412 FMF patients genotyped for three MEFV mutations, M694V, V726A and E148Q. RESUL...

The mutation spectrum of 175 β-thalassemia (β-thal) carriers, identified in pilot carrier screening on 22,713 individuals from Balearic Islands (Spain), is reported. The β(0) CD39 (C>T) mutation is the most frequent (61.1%), followed by β(+) IVS-I-110 (G>A) (12.0%), β(+) IVS-I-6 (T>C) and β(0) IVS-1-1 (G>A) (3.4% both) and eight other rare mutations (2.9-0.6%); with a distinct prevalence and di...

The ancient Silk Road (also called "Northwest Silk Road") in Northwest China, starting from Xi'an, passes through Gansu, Xinjiang, Central Asia, West Asia, and the land passage connecting the Mediterranean countries. The aim of the present study was to determine the frequency of mitochondrial DNA12SrRNA m.1555A>G mutation in a total of 2417 cases of nonsyndromic deaf-mute patients representativ...

BACKGROUND Pyrin is a newly recognised intracellular regulator of inflammation, and mutations in MEFV, the gene encoding pyrin, are the cause of familial Mediterranean fever. OBJECTIVE To determine if known mutations of MEFV are associated with rheumatoid arthritis (RA) morbidity or can modify RA severity. METHODS The frequency of the three most common MEFV mutations: M694V, V726A, and E148...

Glucose-6-Phosphate Dehydrogenase (G6PD) is a cytosolic enzyme which its main function is to produce NADPH in the red blood cells by controlling the step from Glucose-6-Phosphate to 6-Phospho gluconate in the pentose phosphate pathway. G6PD deficiency is the most common X-chromosome linked hereditary enzymopathy in the world, that result in reduced enzyme activity and more than 125 different mu...

study by Gundogan et al. We only included the patients with both clinically and genetically diagnosed FMF. Thus, we think this lowers the false positive risk and increases the sensitivity of the study. We are wondering whether all patients in Gundogan et al.’s study had MEFV gene mutations, and if so, whether there was any genotype-phenotype correlation? Because M694V mutations, especially in a...

The Arab countries encompass a wide region stretching from the Persian Gulf to the Atlantic Ocean. The Arab population is quite heterogeneous and has experienced various invasions and migrations throughout history. beta-thalassemia is endemic in all countries of the Arab world. Our review of the molecular basis of beta-thalassemia in various Arab countries reveals the presence of 52 mutations, ...

OBJECTIVE To define the Mediterranean diet model inside a Mediterranean social and cultural food framework and from the perspective of a local model of consumption. DESIGN Reflexion and review of literature available in relation to the Mediterranean diet, locality and proximity. SETTING AND SUBJECTS Mediterranean region and its populations. RESULTS The Mediterranean local food system unde...