Search PubMed⌕ Search

Biomedical subjects

E Ben-Chetrit

Publications and source records attributed to E Ben-Chetrit.

116 records · Page 7Linked to original sources
PubMedDate not supplied

Molecular diagnosis of FMF: lessons from a study of 446 unrelated individuals.

BACKGROUND: Traditionally, the diagnosis of familial Mediterranean fever (FMF) has been based on clinical manifestations and the physician's experience. Following the cloning of the gene associated with this disease (MEFV), genetic analysis of its mutations has become available, providing a new tool for the establishment or confirmation of the diagnosis of FMF. OBJECTIVES: We analyzed the results of molecular testing for MEFV mutations in 600 individuals. We wished to determine how many of them bore mutations and what percentage had clinically active FMF. We also compared the rate of genetic confirmation of the FMF diagnosis in referrals with suspected FMF seen by general practitioners with that of persons sent for genetic analysis by FMF experts. METHODS: Of 600 individuals tested for FMF mutations, we analyzed separately 446 unrelated persons for the combination of their mutations, epidemiological data, and clinical manifestations. The five most common mutations in the present cohort were analyzed using the amplification refractory mutation system (ARMS). RESULTS: Of the 446 subjects analyzed, 249 (55%) bore mutations: 147 of these were homozygotes or compound heterozygotes, all of whom had FMF according to clinical criteria. Of the remaining 102 heterozygotes, 72 had FMF according to clinical criteria. Two patients with none of the five mutations also had FMF: North African Jews bore mainly mutations M694V and E148Q. The M6941 mutation was found exclusively in Palestinian Arabs. The rate of confirmation of FMF diagnosis by mutation analysis in subjects sent by FMF experts was significantly higher than that of persons referred by general practitioners. Analysis of the molecular testing of the multicase families (154 individuals) revealed that 141 of them bore MEFV mutations and that 4 persons homozygous for E148Q were asymptomatic. CONCLUSIONS: Molecular analysis of FMF mutations confirmed the diagnosis in about 60% of the referrals with suspected FMF. Some (33%) of the patients were heterozygotes, and there were also FMF patients with none of the 5 mutations analyzed. A second opinion by an FMF expert may decrease the need for mutation analysis in subjects suspected of having FMF.

Africa, Northern↗
PubMedDate not supplied

Colchicine-induced leukopenia in a patient with familial Mediterranean fever: the cause and a possible approach.

A young patient with familial Mediterranean fever (FMF) developed leukopenia each time she took colchicine. However, when she discontinued the drug the white cell and the platelets counts increased but she experienced FMF attacks. Later it was found that the patient also had concomitant cytomegalovirus (CMV) infection. This complex situation posed several diagnostic and therapeutic issues concerning the real cause for the leukopenia and the possible approach to take in such conditions. We propose that when an essential drug (such as colchicine for FMF) causes leukopenia, one should look for concurrent CMV or another viral infection. If there is no such infection, it is suggested that the mechanism leading to leukopenia be clarified. In the case of bone marrow suppression, colchicine should be continued with injections of G-CSF, whereas if the bone marrow is hypercellular it is suggested to use steroids and colchicine concomitantly.

Adult↗
PubMedDate not supplied

Dermatomyositis associated with the recurrence of transitional cell carcinomas and Kaposi's sarcoma.

A 76-year-old male was admitted to our hospital because of dermatomyositis (DM). Fourteen years earlier a transitional cell carcinoma of the bladder was diagnosed. Following repeated resections of the neoplasm, he was free of the disease for the last two years. Six weeks after starting treatment with steroids and azathioprine for DM, he has developed Kaposi's sarcoma of the skin which subsided upon discontinuation of the immunosuppressive drugs. Four months after the diagnosis of DM, a local recurrence of the bladder carcinoma was found. This patient illustrates the importance of a thorough search for neoplasms or recurrence in elderly patients with dermatomyositis. The case also emphasizes the need for caution in immunosuppressive treatment of autoimmune disorders in such patients. Still, discontinuation of these medications resulted in a significant improvement of the skin neoplasm.

Aged↗
PubMedDate not supplied

Coexistence of systemic lupus erythematosus and myasthenia gravis: two distinct populations of anti-DNA and anti-acetylcholine receptor antibodies.

A woman with a four-year history of systemic lupus erythematosus (SLE) developed myasthenia gravis (MG). The clinical features of lupus disappeared slowly while the myasthenic syndrome became predominant. However, her serum was positive for anti-DNA and anti-acetylcholine receptor antibodies. Cross-reactivity between anti-DNA antibodies and anti-acetylcholine receptor antibodies was not demonstrated, suggesting the presence of two different populations. A cellular immunology profile was normal as expected in MG and in contrast to SLE. Conceivably, SLE and MG might represent two opposite extremes in the spectrum of autoimmune diseases.

Adult↗
PubMedDate not supplied

Colchicine inhibits spermatozoal motility in vitro.

OBJECTIVE: To study the in vitro effect of colchicine on the motility of normal human spermatozoa. METHODS: Seminal fluid was obtained from 15 normal healthy volunteers. Following the swim-up technique for sperm selection, samples of sperm were incubated with different concentrations of colchicine and their forward motility was assessed after 2, 17, and 24 hours. RESULTS: Colchicine concentrations of 10 micrograms/mL and 20 micrograms/mL reduced spermatozoal motility, while a concentration of 2 micrograms/mL did not have a significant inhibitory effect. Reduction in motility was observed after a minimum incubation of 18 hours. After 24 hours 90-95% of the spermatozoa was shown to be viable by eosin staining. CONCLUSION: Relatively high concentration of colchicine may affect in vitro motility of sperm, probably by its direct effect on the microtubules rather than by causing spermatozoal death.

Cell Survival↗