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Magnetic Resonance (MR) Spectroscopy In Familial Mediterranean Fever (FMF) Patients

2014-07-24 14:18:05 | BioPortfolio

Summary

Familial Mediterranean fever (FMF) is an inherited disorder of unknown etiology, characterized by recurrent episodes of fever, peritonitis and/or pleuritis.

Fever is the cardinal manifestation of FMF and is present in most attacks accompanied by abdominal pain.

Another clinical manifestation in patients with FMF is exertional muscle pain, usually in the thigh, which appears even after minor exercise or physical activity in young patients with generally good health (other than FMF) and in good physical condition. Some patients also complain of ankle edema after relatively minor physical activity, which subsides after a night rest. Although these manifestations are quite common in FMF patients and form part of the minor criteria for the diagnosis, the etiopathogenesis has not been examined.

The purpose of the suggested study is to evaluate and characterize the anatomical and biochemical changes in the muscles of the thigh and in the ankle triggered by physical activity in FMF patients complaining of exertional lower leg myalgias and edema after minor physical exercise.

Study Design

Observational Model: Cohort, Time Perspective: Cross-Sectional

Conditions

Familial Mediterranean Fever

Location

Sheba Medical Center
Ramat Gan
Israel
52621

Status

Recruiting

Source

Sheba Medical Center

Results (where available)

View Results

Links

Published on BioPortfolio: 2014-07-24T14:18:05-0400

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Medical and Biotech [MESH] Definitions

A group of HEREDITARY AUTOINFLAMMATION DISEASES, characterized by recurrent fever, abdominal pain, headache, rash, PLEURISY; and ARTHRITIS. ORCHITIS; benign MENINGITIS; and AMYLOIDOSIS may also occur. Homozygous or compound heterozygous mutations in marenostrin gene result in autosomal recessive transmission; simple heterozygous, autosomal dominant form of the disease.

A major alkaloid from Colchicum autumnale L. and found also in other Colchicum species. Its primary therapeutic use is in the treatment of gout, but it has been used also in the therapy of familial Mediterranean fever (PERIODIC DISEASE).

The MEDITERRANEAN SEA, the MEDITERRANEAN ISLANDS, and the countries bordering on the sea collectively.

A tripartite motif protein that consists of an N-terminal pyrin domain, a central coiled-coil region and B-box type ZINC FINGER, and C-terminal regions that mediate homotrimerization and interactions with other proteins (the B30.2/SPRY DOMAIN). It is expressed primarily by mature GRANULOCYTES and associates with the cytoskeleton in the perinuclear area as well as AUTOPHAGOSOMES, where it co-ordinates the assembly of AUTOPHAGY-RELATED PROTEINS and degradation of INFLAMMASOME components. It functions in INNATE IMMUNITY and INFLAMMATION; mutations in the Pyrin protein (MEFV) gene are associated with FAMILIAL MEDITERRANEAN FEVER.

A febrile disease of the Mediterranean area, the Crimea, Africa, and India, caused by infection with RICKETTSIA CONORII.

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