BACKGROUND/AIM Sensitive and cost-effective detection of point mutations is important in genetics research. Denaturing high-performance liquid chromatography (DHPLC) is known to be one of the most sensitive techniques for point mutation detection. A more recent technique, high-resolution melting (HRM), is based on the melting behavior of PCR products. In this study, the efficiency and sensitivi...

Familial Mediterranean fever (FMF) is an inherited autosomal recessive disorder, ethnically restricted and commonly found among populations surrounding the Mediterranean Sea. FMF is the most prevalent autoinflammatory disease; is characterized by recurrent, self-limited episodes of fever with serositis; and is caused by Mediterranean fever gene (MEFV) mutations on chromosome 16. We describe a c...

Fourteen subjects showing an increase of residual volume (RV) without any clinical or functional signs of bronchial obstruction were studied. Maximum expiratory flow volume (MEFV) curves were obtained with a pressure-corrected volume plethysmograph. Static pressure-volume curves were obtained by stepwise interruption of a slow expiration from total lung capacity (TLC) to RV. Static compliance w...

Familial Mediterranean fever (FMF) is an auto-inflammatory disease characterized by periodic episodes of fever and recurrent polyserositis. It is caused by a dysfunction of pyrin (or marenostrin) as a result of a mutation within the MEFV gene. It occurs mostly in individuals of Mediterranean origin; however, it has also been reported in non-Mediterranean populations. In this report, we describe...

We describe a 17-year-old woman with a family history of FMF who suffered from recurrent fever accompanied by pains in the left chest and abdomen. During a five-year period she experienced attacks about once every six months. The metaraminol provocative test was positive. Genomic DNA extracted from peripheral blood lymphocytes from both her and her parents were analyzed by polymerase chain reac...

Certain vasculitides have an increased prevalence among patients with familial Mediterranean fever (FMF). Subsequently, it was noticed that patients with certain rheumatic diseases had an increased carrier rate for mutations in the MEFV gene including seronegative spondyloarhtropatheis, Henoch Schönlein purpura, polyarteritis nodosa and some forms of juvenile idiopathic arthritis. Furthermore i...

Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent episodes of fever and serosal, synovial, or cutaneous inflammation, caused by a dysfunction of pyrin as a result of mutation within the MEFV gene. It occurs mainly among Mediterranean and Middle Eastern populations, including Jews, Arabs, and Turks. However, FMF cases have been reported outside the M...