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Avi Livneh - One of the best experts on this subject based on the ideXlab platform.
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qt dispersion in amyloidosis due to Familial Mediterranean Fever
Rheumatology International, 2012Co-Authors: Udi Nussinovitch, Naomi Nussinovitch, Moshe Nussinovitch, Benjamin Volovitz, Olga Feld, Ilan Benzvi, Avi LivnehAbstract:Cardiac amyloid deposition in FMF may cause increased QT dispersion (QTd), a marker for cardiac arrhythmias. The aim of this study was to further evaluate repolarization dispersion in Familial Mediterranean Fever (FMF) with amyloidosis. Findings on 12-lead electrocardiography were compared between 18 patients with FMF-amyloidosis and 18 age- and sex-matched control subjects. Repolarization and dispersion parameters were computed with designated computer software, and results of the 5 beats were subsequently averaged. There were no statistically significant differences between the groups as to average corrected QT interval length, average QTd interval, average QT corrected dispersion, or QT dispersion ratio. JT dispersion and JT corrected dispersion were also similar in both groups. In conclusion, patients with FMF-amyloidosis seem to have QT and JT dispersion parameters similar to those of healthy subjects. Future research and longer follow-ups should be conducted in order to evaluate the prognostic importance of repolarization dispersion parameters in amyloidosis of FMF.
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Familial Mediterranean Fever gene mefv mutations as a modifier of systemic lupus erythematosus
Lupus, 2012Co-Authors: Yael Shinar, E Kosach, Gisele Zandmangoddard, R Pauzner, Einat Rabinovich, Pnina Langevitz, Avi LivnehAbstract:The objective of this study was to assess the prevalence of the Mediterranean Fever (MEFV) gene mutations in systemic lupus erythematosus (SLE) patients and their effect on organ involvement, as well as disease activity and severity. The frequencies of three Familial Mediterranean Fever-related MEFV gene mutations (M694V, V726A and E148Q) were investigated in 70 SLE patients. Organ involvement, Systemic Lupus International Collaborating Clinics/American College of Rheumatology (SLICC/ACR) damage index and Systemic Lupus Erythematosus Disease Activity Index (SLEDAI) scores were correlated with mutation carriage. Eleven of 70 patients (15.7%) were found to carry an MEFV mutation. A single patient harbored two mutations, E148Q and V726A, without overt Familial Mediterranean Fever while the rest were heterozygous carriers. Four of the 11 carried an M694V mutation, four carried V726A and two carried E148Q. The majority of MEFV mutation carriers were Sephardic while non-carriers were mainly of Ashkenazi origin ...
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Familial Mediterranean Fever clinical molecular and management advancements
Netherlands Journal of Medicine, 2007Co-Authors: M Lidar, Avi LivnehAbstract:Familial Mediterranean Fever (FMF), the most frequent of the periodic Fever syndromes, is an autosomal recessive disease, predominantly affecting people of Mediterranean descent. The disease is caused by mutations in the MEFV gene, encoding the pyrin protein thought to be associated with the interleukin-1 related inflammation cascade. The condition manifests as attacks of serositis, commonly involving the abdomen, chest or joints, typically accompanied by Fever and elevated acute phase reactants. Attacks subside spontaneously within one to three days, without residue. Continuous treatment with colchicine, at a daily dose of 1 to 2 mg, reduces attack frequency, duration and intensity in the majority of patients, and also prevents the development of secondary amyloidosis, the most dreaded complication of the disease. In this communication we review the current state of the art in the diagnosis and care of FMF patients, starting with the presentation of a typical case.
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a single mutated mefv allele in israeli patients suffering from Familial Mediterranean Fever and behcet s disease fmf bd
European Journal of Human Genetics, 2001Co-Authors: Avi Livneh, Yael Shinar, Pnina Langevitz, Ivona Aksentijevich, Shai Padeh, Elon Pras, Yelizaveta Torosyan, Nitza Gshoham, Nurit Zaks, Daniell KastnerAbstract:A single mutated MEFV allele in Israeli patients suffering from Familial Mediterranean Fever and Behcet's disease (FMF-BD)
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diagnostic and treatment concerns in Familial Mediterranean Fever
Baillière's clinical rheumatology, 2000Co-Authors: Avi Livneh, Pnina LangevitzAbstract:Familial Mediterranean Fever (FMF) is an autosomal, recessively inherited disease, affecting people of Jewish, Arabic, Turkish and Armenian ancestry. The disease is the prototype of the periodic febrile syndromes. Its hallmark is short attacks of Fever and painful manifestations in the abdomen, joints, chest, scrotum and skin. Chronic and protracted manifestations, particularly nephropathic amyloidosis, chronic arthritis, and protracted myalgia, may also occur in the disease. The diagnosis of FMF should be considered in individuals of an appropriate ethnic background who present with febrile disease of episodic nature. The differential diagnosis in this case is broad and includes a large number of infectious, inflammatory and genetic diseases. However, in most cases, the very specific general and site-restricted features of the FMF attacks on the one hand, and the absence of manifestations typical of other conditions on the other hand, determine the diagnosis of FMF. This chapter presents clues and tips that help in the diagnosis and treatment of FMF.
Mordechai Pras - One of the best experts on this subject based on the ideXlab platform.
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protracted febrile myalgia of Familial Mediterranean Fever mutation analysis and clinical correlations
Scandinavian Journal of Rheumatology, 2000Co-Authors: Gil Sidi, Yael Shinar, Pnina Langevitz, Avi Livneh, Mordechai Pras, Elon PrasAbstract:Protracted febrile myalgia (PFM) is a rare form of vasculitic disease that affects patients with Familial Mediterranean Fever (FMF). Mutation analysis performed in 15 patients who suffered from this disorder showed that 9 of the 15 patients were homozygous for M694V. FMF in these 9 patients was associated with more severe symptoms compared to a group of 30 M694V homozygous FMF patients without PFM.
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seronegative spondyloarthropathy in Familial Mediterranean Fever
Seminars in Arthritis and Rheumatism, 1997Co-Authors: Pnina Langevitz, Debora Zemer, Avi Livneh, Joshua Shemer, Mordechai PrasAbstract:Abstract To define a possible association between Familial Mediterranean Fever (FMF) and seronegative spondyloarthropathy (SNSA) and to study features of SNSA in FMF patients, we screened for the presence and manifestations of SNSA in 3,000 FMF patients attending the National Center for FMF in our institution. This population included 160 patients with chronic arthritis, most who suffered from SNSA. Patients were considered to suffer from SNSA if they had chronic arthritis, inflammatory back/neck pain, and sacroiliitis. Patients who had other diseases associated with SNSA were excluded. Eleven patients, nine men and two women, with chronic monoarthritis or oligoarthritis, grade 2 (four patients) or grades 3 to 4 (seven patients), sacroiliitis, and inflammatory back pain met the criteria for diagnosis of SNSA of FMF These patients were rheumatoid factor (RF) and HLA-1327 negative. In seven patients, spondyloarthropathy developed while they received colchicine, and in four before colchicine. Most patients responded to treatment with nonsteroidal antiinflammatory drugs, but three required second-line agents. These findings suggest that SNSA is one of the musculoskeletal manifestations of FMF that may occur despite colchicine therapy and requires specific treatment.
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dominant inheritance in two families with Familial Mediterranean Fever fmf
American Journal of Medical Genetics, 1995Co-Authors: Y Yuval, Debora Zemer, Ezra Sohar, M Hemozisser, Mordechai PrasAbstract:Familial Mediterranean Fever (FMF) is an autosomal-recessive disease which affects almost exclusively people of Mediterranean and Middle Eastern origin. We examined the possibility of a dominant inheritance of FMF among our 3,000 patients in Israel. Two hundred forty FMF patients were members of 77 families in which the disease affected more than one generation. In 75 of these families the occurrence of FMF in more than one generation was found to be consistent with a recessive mode of inheritance due to a high gene frequency (q) and consanguinity among parents of the patients. In 2 families, one of Ashkenazi and the other of Georgian Iraqi origin, in which FMF occurred in 4 consecutive generations, the mode of inheritance could be explained only by autosomal-dominant inheritance.
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colchicine treatment of aa amyloidosis of Familial Mediterranean Fever
Arthritis & Rheumatism, 1994Co-Authors: Avi Livneh, Pnina Langevitz, Debora Zemer, Ezra Sohar, Arie Laor, Mordechai PrasAbstract:OBJECTIVE To elucidate factors possibly influencing the outcome of colchicine therapy in patients with amyloidosis of Familial Mediterranean Fever (FMF). METHODS Retrospective analysis of data abstracted from the charts of all 68 FMF patients with amyloidosis who presented during the study period (1974-1992) with proteinuria (> or = 0.5 gm/24 hours) and creatinine values or = 5 years. RESULTS At the end of the study period, kidney disease had worsened in 31 patients and remained stable in 22. Proteinuria had regressed in 15 patients. Deterioration was related to initial serum creatinine values > or = 1.5 mg/dl (P 1.5 mg/day. This dosage is effective only in patients with initial serum creatinine levels < 1.5 mg/dl.
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mapping of a gene causing Familial Mediterranean Fever to the short arm of chromosome 16
The New England Journal of Medicine, 1992Co-Authors: Elon Pras, Mordechai Pras, Ivona Aksentijevich, Luis Gruberg, James E Balow, Leandrea Prosen, Michael Dean, Alfred D Steinberg, Daniell KastnerAbstract:Abstract Background. Familial Mediterranean Fever is an autosomal-recessive disease characterized by acute attacks of Fever with sterile peritonitis, pleurisy, or synovitis. The biochemical basis of the disease is unknown, but determining the chromosomal location of the gene for the disorder should be a first step toward defining the biochemical events. Methods and Results. As part of a systematic genome-wide search, we sought evidence of linkage between Familial Mediterranean Fever and chromosome 16 DNA markers in 27 affected non-Ashkenazi Jewish families from Israel. Two loci from the subtelomeric region of the short arm of chromosome 16 (16p) had lod scores sufficient to establish linkage (a score ≥3). One DNA marker (D16S84) gave a maximal lod score of 9.17 (odds of 109.17 to 1 in favor of linkage) at a recombination frequency (θ) of 0.04. A probe associated with the hemoglobin α complex (5'HVR) gave a maximal lod score of 14.47 at a θ of 0.06. Multipoint linkage analysis indicated that the following ...
Ozgur Kasapcopur - One of the best experts on this subject based on the ideXlab platform.
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pfapa syndrome in a population with endemic Familial Mediterranean Fever
The Journal of Pediatrics, 2018Co-Authors: Esra Pehlivan, Amra Adrovic, Sezgin Sahin, Kenan Barut, Ovgu Kul Cinar, Ozgur KasapcopurAbstract:We reviewed the medical records of patients with periodic Fever, aphthosis, pharyngitis, and adenitis (PFAPA) to investigate the clinical course, treatment response, and association with MEFV gene mutation. Familial Mediterranean Fever should be considered in patients with PFAPA who do not respond to adenotonsillectomy.
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efficacy and safety of canakinumab in adolescents and adults with colchicine resistant Familial Mediterranean Fever
Arthritis Research & Therapy, 2015Co-Authors: Ahmet Gül, Ozgur Kasapcopur, Huri Ozdogan, Serdal Ugurlu, Burak Erer, N Davis, Serhan SevgiAbstract:Introduction This open-label pilot study aimed to investigate the efficacy of canakinumab in colchicine-resistant Familial Mediterranean Fever (FMF) patients.
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SEROLOGICAL SCREENING FOR CELIAC DISEASE IN CHILDREN WITH COLCHICINE-RESISTANT Familial Mediterranean Fever
Instituto Brasileiro de Estudos e Pesquisas de Gastroenterologia (IBEPEGE), 2024Co-Authors: Yasin Şahin, Amra Adrovic, Sezgin Sahin, Kenan Barut, Tufan Kutlu, Fugen Cullu Cokugras, Tulay Erkan, Ozgur KasapcopurAbstract:ABSTRACT BACKGROUND: Familial Mediterranean Fever and celiac disease share some common clinical features such as abdominal pain, diarrhea, arthralgia and arthritis. Also, both of the diseases are associated with many inflammatory and autoimmune diseases. Previous studies have shown the association between Familial Mediterranean Fever (FMF) and different clinical conditions. OBJECTIVE: We aimed to investigate the relationship between celiac disease and colchicine-resistant Familial Mediterranean Fever (crFMF) disease. METHODS: This prospective study was conducted at the Department of Pediatric Gastroenterology and Pediatric Rheumatology from October 2015 to August 2016. A total of 24 patients with crFMF were included in the study. We used 60 sex- and age-matched healthy subjects as a control group. Levels of total IgA and tissue transglutaminase (tTG) IgA antibody were measured in both groups. Those with increased level of tTG IgA were tested for anti-endomysium IgA antibodies (EMA). Gastroduodenoscopy and intestinal biopsy were planned for a definite diagnosis of celiac disease in patients with positive EMA. RESULTS: Of the 24 patients in this study, 18 (75.0%) were female. Only 4 (16.6%) of 24 patients were positive for tTG IgA. Patients with positive tTG IgA were then tested for EMA IgA antibodies and none of them had a positive result. Only one (1.6%) subject from the control group was positive for tTG IgA but EMA positivity was not detected. CONCLUSION: We did not found celiac disease in 24 children with crFMF. Since crFMF disease is rarely seen in general population, further studies with more patients are needed to provide more precise interpretation
Pnina Langevitz - One of the best experts on this subject based on the ideXlab platform.
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Familial Mediterranean Fever gene mefv mutations as a modifier of systemic lupus erythematosus
Lupus, 2012Co-Authors: Yael Shinar, E Kosach, Gisele Zandmangoddard, R Pauzner, Einat Rabinovich, Pnina Langevitz, Avi LivnehAbstract:The objective of this study was to assess the prevalence of the Mediterranean Fever (MEFV) gene mutations in systemic lupus erythematosus (SLE) patients and their effect on organ involvement, as well as disease activity and severity. The frequencies of three Familial Mediterranean Fever-related MEFV gene mutations (M694V, V726A and E148Q) were investigated in 70 SLE patients. Organ involvement, Systemic Lupus International Collaborating Clinics/American College of Rheumatology (SLICC/ACR) damage index and Systemic Lupus Erythematosus Disease Activity Index (SLEDAI) scores were correlated with mutation carriage. Eleven of 70 patients (15.7%) were found to carry an MEFV mutation. A single patient harbored two mutations, E148Q and V726A, without overt Familial Mediterranean Fever while the rest were heterozygous carriers. Four of the 11 carried an M694V mutation, four carried V726A and two carried E148Q. The majority of MEFV mutation carriers were Sephardic while non-carriers were mainly of Ashkenazi origin ...
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a single mutated mefv allele in israeli patients suffering from Familial Mediterranean Fever and behcet s disease fmf bd
European Journal of Human Genetics, 2001Co-Authors: Avi Livneh, Yael Shinar, Pnina Langevitz, Ivona Aksentijevich, Shai Padeh, Elon Pras, Yelizaveta Torosyan, Nitza Gshoham, Nurit Zaks, Daniell KastnerAbstract:A single mutated MEFV allele in Israeli patients suffering from Familial Mediterranean Fever and Behcet's disease (FMF-BD)
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diagnostic and treatment concerns in Familial Mediterranean Fever
Baillière's clinical rheumatology, 2000Co-Authors: Avi Livneh, Pnina LangevitzAbstract:Familial Mediterranean Fever (FMF) is an autosomal, recessively inherited disease, affecting people of Jewish, Arabic, Turkish and Armenian ancestry. The disease is the prototype of the periodic febrile syndromes. Its hallmark is short attacks of Fever and painful manifestations in the abdomen, joints, chest, scrotum and skin. Chronic and protracted manifestations, particularly nephropathic amyloidosis, chronic arthritis, and protracted myalgia, may also occur in the disease. The diagnosis of FMF should be considered in individuals of an appropriate ethnic background who present with febrile disease of episodic nature. The differential diagnosis in this case is broad and includes a large number of infectious, inflammatory and genetic diseases. However, in most cases, the very specific general and site-restricted features of the FMF attacks on the one hand, and the absence of manifestations typical of other conditions on the other hand, determine the diagnosis of FMF. This chapter presents clues and tips that help in the diagnosis and treatment of FMF.
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protracted febrile myalgia of Familial Mediterranean Fever mutation analysis and clinical correlations
Scandinavian Journal of Rheumatology, 2000Co-Authors: Gil Sidi, Yael Shinar, Pnina Langevitz, Avi Livneh, Mordechai Pras, Elon PrasAbstract:Protracted febrile myalgia (PFM) is a rare form of vasculitic disease that affects patients with Familial Mediterranean Fever (FMF). Mutation analysis performed in 15 patients who suffered from this disorder showed that 9 of the 15 patients were homozygous for M694V. FMF in these 9 patients was associated with more severe symptoms compared to a group of 30 M694V homozygous FMF patients without PFM.
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seronegative spondyloarthropathy in Familial Mediterranean Fever
Seminars in Arthritis and Rheumatism, 1997Co-Authors: Pnina Langevitz, Debora Zemer, Avi Livneh, Joshua Shemer, Mordechai PrasAbstract:Abstract To define a possible association between Familial Mediterranean Fever (FMF) and seronegative spondyloarthropathy (SNSA) and to study features of SNSA in FMF patients, we screened for the presence and manifestations of SNSA in 3,000 FMF patients attending the National Center for FMF in our institution. This population included 160 patients with chronic arthritis, most who suffered from SNSA. Patients were considered to suffer from SNSA if they had chronic arthritis, inflammatory back/neck pain, and sacroiliitis. Patients who had other diseases associated with SNSA were excluded. Eleven patients, nine men and two women, with chronic monoarthritis or oligoarthritis, grade 2 (four patients) or grades 3 to 4 (seven patients), sacroiliitis, and inflammatory back pain met the criteria for diagnosis of SNSA of FMF These patients were rheumatoid factor (RF) and HLA-1327 negative. In seven patients, spondyloarthropathy developed while they received colchicine, and in four before colchicine. Most patients responded to treatment with nonsteroidal antiinflammatory drugs, but three required second-line agents. These findings suggest that SNSA is one of the musculoskeletal manifestations of FMF that may occur despite colchicine therapy and requires specific treatment.
Debora Zemer - One of the best experts on this subject based on the ideXlab platform.
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acute scrotal pain complicating Familial Mediterranean Fever in children
British Journal of Surgery, 2005Co-Authors: Gideon Eshel, I Vinograd, Joseph Barr, Debora ZemerAbstract:Twenty-nine children with Familial Mediterranean Fever presented with 39 attacks of acute scrotal pain. Of these, 25 patients had an acute scrotum complicating Familial Mediterranean Fever and only four had testicular torsion. Scrotal pain was the only manifestation of a Familial Mediterranean Fever crisis in 36 episodes and in 15 boys scrotal involvement was the first manifestation of the condition. Fourteen patients were treated medically. Of 15 patients who underwent scrotal exploration there were no definite diagnostic findings in 11 and four had testicular torsion. Three cardinal features strongly suggest the diagnosis of acute scrotum in Familial Mediterranean Fever in a boy of Mediterranean origin with a relevant family history: recurrent scrotal pain or swelling; body temperature above 37.5 degrees C; and gradual onset of pain, usually of more than 12 h duration. Conservative management can safely be undertaken in these boys without fear of losing a salvageable testis.
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seronegative spondyloarthropathy in Familial Mediterranean Fever
Seminars in Arthritis and Rheumatism, 1997Co-Authors: Pnina Langevitz, Debora Zemer, Avi Livneh, Joshua Shemer, Mordechai PrasAbstract:Abstract To define a possible association between Familial Mediterranean Fever (FMF) and seronegative spondyloarthropathy (SNSA) and to study features of SNSA in FMF patients, we screened for the presence and manifestations of SNSA in 3,000 FMF patients attending the National Center for FMF in our institution. This population included 160 patients with chronic arthritis, most who suffered from SNSA. Patients were considered to suffer from SNSA if they had chronic arthritis, inflammatory back/neck pain, and sacroiliitis. Patients who had other diseases associated with SNSA were excluded. Eleven patients, nine men and two women, with chronic monoarthritis or oligoarthritis, grade 2 (four patients) or grades 3 to 4 (seven patients), sacroiliitis, and inflammatory back pain met the criteria for diagnosis of SNSA of FMF These patients were rheumatoid factor (RF) and HLA-1327 negative. In seven patients, spondyloarthropathy developed while they received colchicine, and in four before colchicine. Most patients responded to treatment with nonsteroidal antiinflammatory drugs, but three required second-line agents. These findings suggest that SNSA is one of the musculoskeletal manifestations of FMF that may occur despite colchicine therapy and requires specific treatment.
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dominant inheritance in two families with Familial Mediterranean Fever fmf
American Journal of Medical Genetics, 1995Co-Authors: Y Yuval, Debora Zemer, Ezra Sohar, M Hemozisser, Mordechai PrasAbstract:Familial Mediterranean Fever (FMF) is an autosomal-recessive disease which affects almost exclusively people of Mediterranean and Middle Eastern origin. We examined the possibility of a dominant inheritance of FMF among our 3,000 patients in Israel. Two hundred forty FMF patients were members of 77 families in which the disease affected more than one generation. In 75 of these families the occurrence of FMF in more than one generation was found to be consistent with a recessive mode of inheritance due to a high gene frequency (q) and consanguinity among parents of the patients. In 2 families, one of Ashkenazi and the other of Georgian Iraqi origin, in which FMF occurred in 4 consecutive generations, the mode of inheritance could be explained only by autosomal-dominant inheritance.
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colchicine treatment of aa amyloidosis of Familial Mediterranean Fever
Arthritis & Rheumatism, 1994Co-Authors: Avi Livneh, Pnina Langevitz, Debora Zemer, Ezra Sohar, Arie Laor, Mordechai PrasAbstract:OBJECTIVE To elucidate factors possibly influencing the outcome of colchicine therapy in patients with amyloidosis of Familial Mediterranean Fever (FMF). METHODS Retrospective analysis of data abstracted from the charts of all 68 FMF patients with amyloidosis who presented during the study period (1974-1992) with proteinuria (> or = 0.5 gm/24 hours) and creatinine values or = 5 years. RESULTS At the end of the study period, kidney disease had worsened in 31 patients and remained stable in 22. Proteinuria had regressed in 15 patients. Deterioration was related to initial serum creatinine values > or = 1.5 mg/dl (P 1.5 mg/day. This dosage is effective only in patients with initial serum creatinine levels < 1.5 mg/dl.
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recurrent episodes of acute scrotum with ischemic testicular necrosis in a patient with Familial Mediterranean Fever
The Journal of Urology, 1994Co-Authors: Avi Livneh, Pnina Langevitz, Igael Madgar, Debora ZemerAbstract:AbstractThe tunica vaginalis is 1 of the sites involved in the recurrent febrile attacks of serositis, which are the hallmark of Familial Mediterranean Fever. The attacks present clinically as “orchitis.” We report on a patient with Familial Mediterranean Fever in whom recurrent episodes of scrotal attacks were complicated by testicular necrosis requiring orchiectomy. The case emphasizes the challenge of recognizing and differentiating these attacks from other causes of acute scrotum.
