Familial Mediterranean fever: Penetrance of the p.[Met694Val];[Glu148Gln] and p.[Met694Val];[=] genotypes.

The penetrance of the p.[Met694Val];[Met694Val] genotype of pyrin in adult familial Mediterranean fever (FMF) patients is close to 100%. Disease penetrance of the p.

Attempts at suppression of amyloidogenesis in a mouse model by a variety of anti-inflammatory agents.

Objective: The mainstay of AA amyloidosis prevention and treatment is suppression of inflammation. In the present study we have tried to determine the efficacy of a variety of anti-inflammatory agents at suppressing AA amyloidosis in a mouse model of the disease.

Methods: AA amyloidosis was induced in Swiss male mice using amyloid enhancing factor and AgNO(3).

Clinical disease among patients heterozygous for familial Mediterranean fever.

Objective: To define the molecular basis of familial Mediterranean fever (FMF) in patients with only 1 mutation in the MEFV gene.

Methods: Genetic analysis was performed in 20 FMF patients, including full sequencing of complementary DNA (cDNA) samples and multiplex ligation-dependent probe amplification analysis. In patients with first-degree relatives with FMF, haplotype analysis was also performed.

Suppression of amyloidogenesis in a mouse model by corticosteroid intervention.

Steroid treatment of amyloidosis was studied previously in human and murine models of reactive amyloidosis but with limited success and with conflicting results. To determine whether steroids may inhibit amyloidogenesis, and to study factors that may play a role in this effect, the authors induced amyloidosis in Swiss male mice, using the enhanced protocol with a single intravenous injection of amyloid-enhancing factor (AEF) and 3 successive daily subcutaneous AgNO(3) injections. Suppression of amyloid formation by various commonly used steroid preparations was evaluated from the amount of splenic amyloid, using the crush-and-smear technique.

Co-deposition of amyloidogenic immunoglobulin light and heavy chains in localized pulmonary amyloidosis.

Localized pulmonary amyloidosis is a rare condition whose pathogenesis is insufficiently understood. In the present study, we report a case of localized pulmonary amyloidosis associated with lung-restricted lymphoplasmacytoid lymphoma, monoclonal for immunoglobulin (Ig) G lambda (lambda). Biochemical microtechniques have been applied for extraction, purification, and characterization of amyloid proteins.

Raft lipids as common components of human extracellular amyloid fibrils.

Amyloid fibrils are fibrillar polypeptide aggregates from several degenerative human conditions, including Alzheimer's and Creutzfeldt-Jakob diseases. Analysis of amyloid fibrils derived from various human diseases (AA, ATTR, Abeta2M, ALlambda, and ALkappa amyloidosis) shows that these are associated with a common lipid component that has a conserved chemical composition and that is specifically rich in cholesterol and sphingolipids, the major components of cellular lipid rafts. This pattern is not notably affected by the purification procedure, and no tight lipid interactions can be detected when preformed fibrils are mixed with lipids.

Biochemical subtyping of amyloid in formalin-fixed tissue samples confirms and supplements immunohistologic data.

The systemic amyloidoses are a heterogeneous group of congophilic fibrillar protein deposition diseases that should be subtyped chemically by immunohistologic methods. Biochemical methods sometimes are required to confirm or identify the amyloid type in unfixed or informalin-fixed tissue samples. We report the results of formic acid extraction and immunochemical and biochemical characterization of deposits informalin-fixed tissue samples from 10 cases of amyloidosis and 3 from nonamyloid monoclonal immunoglobulin light chain deposition disease.

Neutrophil adhesion molecule expression in familial Mediterranean fever: discordance between the intravascular regulation of beta2 integrin and L-selectin expression in acute attack.

Background: To determine the surface expression of neutrophil beta2 integrin (CD11b/CD18) and L-selectin (LS) adhesion molecules in patients with familial Mediterranean fever (FMF) and to investigate the in vitro regulation of their expression in response to chemoattractant stimuli.

Methods: Neutrophil surface expression of CD11b and LS molecules was analyzed by flow cytometry in anticoagulated whole blood drawn from FMF patients and normal controls, and the in vitro regulation of these molecules induced by the chemoattractant N-formyl-methionyl-leucyl-phenylalanine (FMLP) was assayed.

Results: Patients during acute FMF attacks showed a statistically significant increased neutrophil surface CD11b compared with normal controls (mean fluorescence intensity: 22.

Intravenous colchicine for treatment of patients with familial Mediterranean fever unresponsive to oral colchicine.

Objective: To evaluate the efficacy and safety of weekly intravenous (IV) colchicine, in addition to oral colchicine therapy, in a subset of patients with familial Mediterranean fever (FMF) unresponsive to oral colchicine prophylaxis.

Methods: Thirteen patients with frequent FMF attacks, despite oral doses of 2-3 mg/day colchicine, were treated with weekly IV injections of 1 mg colchicine for 12 weeks in an open-label pilot study. Patients were evaluated periodically for the number and severity of their attacks, use of analgesics, and erythrocyte sedimentation rate (ESR).

Analysis of the three most common MEFV mutations in 412 patients with familial Mediterranean fever.

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.

Clinical and diagnostic value of genetic testing in 216 Israeli children with Familial Mediterranean fever.

Objective: Familial Mediterranean fever (FMF) is an autosomal recessive disease with diverse clinical presentation. The FMF gene (MEFV) has recently been cloned and 30 point mutations causing the disease have been identified. We appraised the value of mutation analysis as a diagnostic test for FMF in symptomatic pediatric patients, and explored the possible correlations between MEFV genotypes and the diverse phenotypic expression of the disease.

Thoracic and lung involvement in familial Mediterranean fever (FMF).

Lung involvement in FMF is limited mainly to transient pleuritis during acute attacks. Amyloidosis of the lung is rare and is associated with symptomatic involvement of other organs while remaining subclinical in itself. Vasculitis of the lung in FMF is possible because of the strong association between FMF and a variety of vasculitides.

Combined use of micro-preparative gel electrophoresis and reversed-phase high-performance liquid chromatography for purification of amyloid beta peptides deposited in brains of Alzheimer's disease patients.

A new micro-technique is developed for purification of amyloid beta peptides (A beta) extracted from brain tissues of patients with Alzheimer's disease (AD). It includes SDS-polyacrylamide gel electrophoresis of the extracted brain tissue material, electroblotting onto supporting membranes, and reversed-phase HPLC of the proteins eluted from membranes. By this technique, the extracted A beta are first separated electrophoretically from the higher and lower molecular mass tissue components, and then purified by reversed-phase HPLC from the contaminants having similar molecular masses, but different retention times on the column.