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עמוד בית
Tue, 23.04.24

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September 2017
Ido-David Dechtman MD, Chagai Grossman MD, Yael Shinar MD, Rinat Cohen MD, Eyal Nachum MD, Ehud Raanani MD, Avi Livneh MD and Ilan Ben-Zvi MD

Background: Postpericardiotomy syndrome (PPS) is characterized by pleuro-pericardial inflammation, which occurs in patients undergoing surgical procedures involving the pleura, pericardium, or both. The syndrome is considered to be immune mediated. However, its pathogenesis is not fully understood. It has previously been demonstrated that the Mediterranean Fever (MEFV) gene, which is associated with familial Mediterranean fever (FMF), has a role in the activation and expression of several inflammatory diseases.

Objectives: To investigate whether carriage of the MEFV mutation may precipitate PPS or affect its phenotype.

Methods: The study population included 45 patients who underwent cardiac surgery and developed PPS. The control group was comprised of 41 patients who did not develop PPS. Clinical and demographic data was collected. The severity of PPS was evaluated. Genetic analysis to determine the carriage of one the three most common MEFV gene mutations (M694V, V726A, E148Q) was performed. The carriage rate of MEFV mutations in patients with and without PPS was compared. Association between MEFV mutation carriage and severity of PPS was evaluated. 

Results: The rate of mutation carriage in the MEFV gene was similar in patients with and without PPS (15.6% in the study groups vs. 29.3% in the control group, P = 0.1937). The rate of mutation carriage in the MEFV gene was significantly lower among patients with severe PPS as compared to patients with mild-moderate PPS (4.8% vs. 25%, P < 0.05).

Conclusions: Carriage of mutations in the MEFV gene is not associated with development of PPS; however, it may affect PPS severity.

 

February 2012
L.V. Lage, J.F. de Carvalho, M.T.C. Caleiro, N.H. Yoshinari, L.M.H. da Mota, M.A Khamashta and W. Cossermelli

Background: Antibodies directed against endothelial cell surface antigens have been described in many disorders and have been associated with disease activity. Since the most prominent histopathologic feature in mixed connective tissue disease (MCTD) is the widespread and unique proliferative vascular lesion, our aim was to evaluate the frequency of anti-endothelial cell antibodies (AECA) in this condition.

Objectives: To evaluate the frequency of AECA in this disease and assess its clinical and laboratory associations.

Methods: Seventy-three sera from 35 patients with MCTD (Kasukawa’s criteria), collected during a 7 year period, were tested for immunoglobulins G and M (IgG and IgM) AECA by cellular ELISA, using HUVEC (human umbilical vein endothelial cells). Sera from 37 patients with systemic lupus erythematosus (SLE), 22 with systemic sclerosis (SSc) and 36 sera from normal healthy individuals were used as controls. A cellular ELISA using HeLa cells was also performed as a laboratory control method.

Results: IgG-AECA was detected in 77% of MCTD patients, 54% of SLE patients, 36% of SSc patients and 6% of normal controls. In MCTD, IgG-AECA was associated with vasculitic manifestations, disease activity and lymphopenia, and was also a predictor of constant disease activity. Immunosuppressive drugs were shown to reduce IgG-AECA titers. Since antibodies directed to HeLa cell surface were negative, AECA was apparently unrelated to common epitopes present on epithelial cell lines.

Conclusions: AECA are present in a large proportion of patients with MCTD and these antibodies decrease after immunosuppressive treatment.


 
May 2007
N. Yarom, N. Dagon, E. Shinar and M. Gorsky

Background: Oral lichen planus is a cell-mediated immune condition of unknown etiology. A possible association of OLP[1] with hepatitis C virus infection has been documented in specific populations. However, no such possible association has been studied in Israel.

Objectives: To assess the prevalence of HCV[2] antibodies among patients with OLP in Israel.

Methods: The prevalence of HCV seropositivity was studied in OLP patients (n=62) and compared with that of a control group (n=65) and with the prevalence among healthy volunteer blood donors (n=225,452) as representatives of the general population.

Results: The prevalence of HCV, as detected by the presence of anti-HCV antibodies screened by enzyme-linked immunosorbent assay, and confirmed by recombinant immunoblot assay, was 4.8%, 1.5% and 0.1%, respectively. HCV seropositivity in the OLP patients was significantly higher than in the healthy blood donors (P < 0.001).

Conclusions: A possible association between OLP and HCV is suggested. Therefore, screening OLP patients for antibodies to HCV is recommended.







[1] OLP = oral lichen planus

[2] HCV = hepatitis C virus


August 2003
N. Zaks, Y. Shinar, S. Padeh, M. Lidar, A. Mor, I. Tokov, M. Pras, P. Langevitz, E. Pras and A. Livneh

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.

Results: The most frequent mutation, M694V, was detected in 47% of the carrier chromosomes. This mutation, especially common among North African Jewish FMF[1] patients, was not found in any of the Ashkenazi (East European origin) patients. Overall, one of the three mutations was detected in 70% of the carrier chromosomes. M694V/M694V was the most common genotype (27%), followed by M694V/V726A (16%). The full genotype could be assessed in 57% of the patients, and one disease-causing mutation in an additional 26%. Only one patient with the E148Q/E148Q genotype was detected despite a high carrier rate for this mutation in the Jewish population, a finding consistent with a low penetrance of this genotype. The M694V/M694V genotype was observed in 15 patients with amyloidosis compared to 4 amyloidosis patients with other genotypes (P < 0.0001).

Conclusions: Because of low penetrance and as yet other undetermined reasons, mutation analysis of the most common MEFV mutations supports a clinical diagnosis in only about 60% of patients with definite FMF.

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[1] FMF = familial Mediterranean fever


September 1999
Pnina Langevitz, MD, Avi Livneh, MD, Shai Padeh, MD, Nurit Zaks, MD, Yael Shinar, MD, Deborah Zemer, MD, Elon Pras, MD, and Mordechai Pras, MD.
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