نتایج جستجو برای: m694v
تعداد نتایج: 202 فیلتر نتایج به سال:
Methods The study cohort involved 155 FMF patients (male/female 87/68). Mean age was 33,6±11,8 years in the patients group without renal amyloidosis (45 men, 35 women, n=80) and 37,8±7,4 years in the patients group with amyloidosis (42 men, 33 women, n=75). All the patients had symptoms related to the respiratory system, such as pleuritic chest pain with or without cough, dyspnea, chest tightne...
Results The study group comprised 221 FMF patients (116F, 105M) with a mean age of 12.7±5.3 years. Mean duration of colchicine use was 58.9±45.3 months. Patients were divided into two groups according to their colchicine response; Group I (n=131) included patients with no attacks after colchicine and Group II (n=90) patients with partial or no response to colchicine. Mean age, sex, age at disea...
There were no significant differences (age at onset, initial dose of colchicine and serum amyloid A levels) in the two groups. The FMF patients with elevated proteinuria showed a short time between the age of onset and the starting of colchicine than ones with normal proteinuria. Two patients with pathological proteinuria did not have MEFV gene mutations. After the increase of colchicine, there...
L'objectif de ce travail est de rapporter une observation particulière de myélome multiple survenant au cours d'une maladie périodique. Il s'agit d'un patient tunisien de 53 ans suivi depuis le jeune âge pour maladie périodique dont le diagnostic était confirmé par l'étude génétique montrant l'homozygotie pour la mutation M694V du gène MEFV, fut admis pour exploration d'une douleur avec tuméfac...
Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurring attacks of fever and serositis. It affects primarily North African Jews, Armenians, Turks and Arabs, in which a founder effect has been demonstrated. The marenostrin-pyrin-encoding gene has been proposed as a candidate gene for the disease ( MEFV ), on the basis of the identification of putative mut...
Familial Mediterranean fever (FMF), inherited in an autosomal recessive manner, is a systemic auto-inflammatory disorder characterized by recurrent attacks of fever with peritonitis, pleuritis, synovitis and erysipeloid rash. The marenostrin-encoding fever (MEFV) gene, located on chromosome 16p13.3, is the only gene in which mutations are currently known to cause FMF. To correlate specific geno...
To substantiate this hypothesis we compared the diseaseseverity in Turkish FMF patients living in Turkey and Germany, based on a modified score for children. A total of 53 Turkish children living in Turkey were compared to 45 Turkish children born and raised in Germany. Mean age among the group from Turkey and Germany was 42.2 (range 2–120 months) and 44.29 (range 3–178 months) months, respecti...
Dear Editor, Familial Mediterranean fever (FMF) is a recessively inherited disease associated with mutations in the FMF gene (MEFV), which encodes the pyrin protein. AA amyloidosis is the most devastating complication of FMF. Nonamyloid renal lesions also have been reported including vasculitis, focal diffuse glomerulonephritis, and immunoglobulin A nephropathy. M694V is the most common mutatio...
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