42 results on '"M694V"'
Search Results
2. Unprecedented coexistence of autoinflammatory myositis and chronic thrombosis with heterozygotic M694V mutation: An atypical presentation of familial Mediterranean fever.
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Bahar, Furkan and Ugurlu, Serdal
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SYMPTOMS , *FAMILIAL Mediterranean fever , *BEHCET'S disease , *VENA cava inferior , *ANKLE joint , *MYOSITIS , *POLYMYOSITIS - Abstract
This article, published in Modern Rheumatology Case Reports, discusses a rare case of familial Mediterranean fever (FMF) with atypical symptoms. The patient, a 41-year-old male, presented with severe leg pain, stiffness, and localized swellings without fever or abdominal symptoms. Further examination revealed muscle inflammation in both legs and chronic thrombosis in the inferior vena cava. Genetic testing confirmed the presence of the heterozygotic M694V mutation, diagnosing an atypical FMF. This case highlights the potential for FMF to present with complex manifestations beyond the conventional symptoms and underscores the need for further research to enhance understanding of FMF's diverse clinical spectrum. [Extracted from the article]
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- 2024
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3. Early Versus Late Onset Familial Mediterranean Fever: Similarities, Discrepancies, and the Value of Neutrophil to Lymphocyte Ratio in Detecting Autoinflammation.
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Kaban, Nedim, Harman, Halil, and Kantar, Mine
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NEUTROPHIL lymphocyte ratio , *INFLAMMATION , *FAMILIAL Mediterranean fever , *C-reactive protein , *ABDOMINAL pain , *BODY mass index - Abstract
Objective: The objective of this study was to compare the clinical and laboratory characteristics of early-onset familial Mediterranean fever patients (EOFPs), adult-onset familial Mediterranean fever (FMF) patients (AOFPs), and late-onset FMF patients (LOFPs). Materials and Methods: This study included a total of 202 FMF patients aged 18 years and above. Mediterranean fever (MEFV) gene mutations, demographic data, clinical characteristics, medications patients are on, neutrophil to absolute lymphocyte ratio (NLR), and C-reactive protein (CRP) levels obtained during an attack period, and three weeks after the attack were recorded. Based on the age of symptom onset, patients were divided into three groups: <20 years (EOFPs), 20--39 years (AOFPs), and ≥40 years (LOFPs). Results: The most common symptom was abdominal pain, followed by fever. Fever was statistically significantly more common in EOFPs compared to LOFPs (p=0.001). Most patients with the M694V homozygous mutation had a disease onset below 20 years of age, whereas no compound heterozygous mutation was found in LOFPs. The body mass index (BMI) in EOFPs was lower than in AOFPs and LOFPs (p=0.002). In the attack-free group, patients with the M694V homozygous mutation had significantly higher NLRs (median, 2.36 vs. 2.01, p=0.042). Conclusion: LOFPs had a milder form of the disease with less frequent abdominal pain and fever. We would like to advise clinicians that the NLR can be used to detect acute and subacute inflammation, especially in patients with the M694V homozygous mutation among EOFPs [ABSTRACT FROM AUTHOR]
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- 2024
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4. A case of familial Mediterranean fever presenting with ankylosing spondylitis: A rare case‐report.
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Khalaji, Amirreza and Jafarpour, Mehdi
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FAMILIAL Mediterranean fever , *ANKYLOSING spondylitis , *BACKACHE , *ABDOMINAL pain , *GENETIC markers , *HLA-B27 antigen - Abstract
Key Clinical Message: The association of familial Mediterranean fever and ankylosing spondylitis is rare, but it is essential to consider this diagnosis in patients with a history of FMF who develop symptoms of back pain or other rheumatologic conditions. Familial Mediterranean fever (FMF) is an inherited inflammatory disorder characterized by recurrent fever episodes, abdominal pain, and arthralgia. Ankylosing spondylitis (AS) is a chronic inflammatory disease that affects the spine's joints. The association of FMF and AS is rare. We report the case of a 22‐year‐old male patient with a history of FMF and a positive family history of FMF in his father, who presented with inflammatory back pain. The patient was found to have sacroiliitis on MRI, which is a characteristic feature of AS. The patient was negative for HLA‐B27, a genetic marker often associated with AS. This case report highlights the importance of considering AS in patients with a history of FMF who develop back pain symptoms or other rheumatologic conditions. [ABSTRACT FROM AUTHOR]
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- 2023
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5. A case of familial Mediterranean fever presenting with ankylosing spondylitis: A rare case‐report
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Amirreza Khalaji and Mehdi Jafarpour
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ankylosing spondylitis ,familial Mediterranean fever ,HLA‐B27 ,M694V ,sacroiliitis ,Medicine ,Medicine (General) ,R5-920 - Abstract
Key Clinical Message The association of familial Mediterranean fever and ankylosing spondylitis is rare, but it is essential to consider this diagnosis in patients with a history of FMF who develop symptoms of back pain or other rheumatologic conditions. Abstract Familial Mediterranean fever (FMF) is an inherited inflammatory disorder characterized by recurrent fever episodes, abdominal pain, and arthralgia. Ankylosing spondylitis (AS) is a chronic inflammatory disease that affects the spine's joints. The association of FMF and AS is rare. We report the case of a 22‐year‐old male patient with a history of FMF and a positive family history of FMF in his father, who presented with inflammatory back pain. The patient was found to have sacroiliitis on MRI, which is a characteristic feature of AS. The patient was negative for HLA‐B27, a genetic marker often associated with AS. This case report highlights the importance of considering AS in patients with a history of FMF who develop back pain symptoms or other rheumatologic conditions.
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- 2023
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6. Renal involvement, presence of amyloidosis, and genotype–phenotype relationship in pediatric patients with Familial Mediterranean fever: a single center study.
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Bekis Bozkurt, Hayrunnisa, Yıldırım, Sema, and Ergüven, Müferet
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FAMILIAL Mediterranean fever , *CHILD patients , *AMYLOIDOSIS , *CHEST pain , *DELAYED diagnosis , *RENAL biopsy , *CARDIAC amyloidosis - Abstract
The aim of the study is to investigate how renal involvement is correlated with frequency of amyloidosis, risk factors, and demographic and clinical characteristics in pediatric patients with Familial Mediterranean fever (FMF). Demographic and clinical characteristics and laboratory data of the pediatric patients diagnosed with FMF between 1990 and 2018 were recorded from their files. The diagnosis of patients with amyloidosis (AA) was proven by renal biopsy, and as for patients with non-amyloidosis renal involvement (RI wo AA), amyloidosis could not be detected but they were followed up with the diagnosis of proteinuria and/or hematuria. A total of 1929 FMF pediatric patients were included in the study. About 962 (49.9%) participants were male. There were 134 (6.9%) patients with RI wo AA and 23 (1.2%) patients with AA diagnosed by biopsy. The most common M694V heterozygous/homozygous(het/hom) (31%) mutation was observed. Delay in diagnosis and presence of colchicine resistance were more in patients with RI wo AA and AA (p < 0.05). M694V het/hom mutation was high in both RI wo AA and AA, while the presence of compound heterozygous with M694V mutation was high in RI wo AA (p < 0.01, p = 0.02, p = 0.048, respectively). There was a positive correlation between M694V mutation and monoarthritis/polyarthritis, between compound heterozygous with M694V mutations and presence of chest pain, and between V726A mutation and constipation. Also a negative correlation was found between E148Q and chest pain and between R202Q mutation and monoarthritis/polyarthritis. While M694V mutation increased the risk 2.6 times for AA and 1.7 times for RI wo AA, colchicine resistance increased the risk 33 times for AA and 25 times for RI wo AA. Concluson: It was concluded in the present study that M694V mutation and colchicine resistance were two important risk factors for RI wo AA (6.9%) and amyloidosis (1.2%) in FMF patients. It should be kept in mind that compound heterozygous with M694V mutations may be associated with chest pain and R202Q mutation may be negatively correlated with arthritis, unlike M694V. The genetic results and clinical findings of the patients should be evaluated together and followed up closely. What is Known: • M694V mutation and colchicine resistance were two important risk factors for RI wo AA and amyloidosis in FMF patients. What is New: • Compound heterozygous with M694V mutations were associated with chest pain and may be more serious than thought. • Another point is that while R202Q mutations were negatively correlated with arthritis, M694V mutations were positively correlated. [ABSTRACT FROM AUTHOR]
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- 2023
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7. Familial Mediterranean fever with pseudo-septic arthritis: A case report and review of the literature.
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Alamlih, Laith, AL-Karaja, Layth, Alayaseh, Mohammad, Abunejma, Fawzy, Al-Zeer, Ziyad, and Sultan, Bashar
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INFECTIOUS arthritis , *FAMILIAL Mediterranean fever , *LITERATURE reviews , *ARTHRITIS - Published
- 2023
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8. Magnetic resonance findings may aid in diagnosis of protracted febrile myalgia syndrome: a retrospective, multicenter study
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Neta Aviran, Gil Amarilyo, Yaniv Lakovsky, Rotem Tal, Jenny Garkaby, Rubi Haviv, Yosef Uziel, Shiri Spielman, Hamada Mohammad Natour, Yonatan Herman, Oded Scheuerman, Yonatan Butbul Aviel, Yoel Levinsky, and Liora Harel
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Familial Mediterranean fever ,Magnetic resonance imaging ,Myositis ,M694V ,Protracted febrile myalgia syndrome ,Medicine - Abstract
Abstract Background Protracted febrile myalgia syndrome (PFMS) is a rare complication of Familial Mediterranean fever (FMF). The diagnosis is based on clinical symptoms and is often challenging, especially when PFMS is the initial manifestation of FMF. The aim of this report was to describe the magnetic resonance imaging (MRI) findings in pediatric patients with PFMS. Results There were three girls and two boys ranging in age from 6 months to 16 years, all of Mediterranean ancestry. Three had high-grade fever, and all had elevated inflammatory markers. MRI of the extremities yielded findings suggestive of myositis, which together with the clinical picture, normal CPK levels, and supporting family history of FMF, suggested the diagnosis of PFMS. Out of most common MEFV mutations tested, one patient was homozygous for M694V mutation, three were heterozygous for M694V mutation, and one was compound heterozygous for the M694V and V726A mutations. Conclusions MRI may serve as an auxiliary diagnostic tool in PFMS.
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- 2022
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9. Magnetic resonance findings may aid in diagnosis of protracted febrile myalgia syndrome: a retrospective, multicenter study.
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Aviran, Neta, Amarilyo, Gil, Lakovsky, Yaniv, Tal, Rotem, Garkaby, Jenny, Haviv, Rubi, Uziel, Yosef, Spielman, Shiri, Natour, Hamada Mohammad, Herman, Yonatan, Scheuerman, Oded, Butbul Aviel, Yonatan, Levinsky, Yoel, and Harel, Liora
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MAGNETIC resonance , *MYALGIA , *FAMILIAL Mediterranean fever , *MAGNETIC resonance imaging , *SYNDROMES - Abstract
Background: Protracted febrile myalgia syndrome (PFMS) is a rare complication of Familial Mediterranean fever (FMF). The diagnosis is based on clinical symptoms and is often challenging, especially when PFMS is the initial manifestation of FMF. The aim of this report was to describe the magnetic resonance imaging (MRI) findings in pediatric patients with PFMS.Results: There were three girls and two boys ranging in age from 6 months to 16 years, all of Mediterranean ancestry. Three had high-grade fever, and all had elevated inflammatory markers. MRI of the extremities yielded findings suggestive of myositis, which together with the clinical picture, normal CPK levels, and supporting family history of FMF, suggested the diagnosis of PFMS. Out of most common MEFV mutations tested, one patient was homozygous for M694V mutation, three were heterozygous for M694V mutation, and one was compound heterozygous for the M694V and V726A mutations.Conclusions: MRI may serve as an auxiliary diagnostic tool in PFMS. [ABSTRACT FROM AUTHOR]- Published
- 2022
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10. FREQUENCY AND DISTRIBUTION OF MEFV GENE MUTATION IN FAMILIAL MEDITERRANEAN FEVER PATIENTS: A SINGLE CENTER EXPERIENCE.
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ÖZEMRİ SAĞ, Şebnem, ALEMDAR, Adem, ALİYEVA, Lamiya, KAYA, Niyazi, and TEMEL, Şehime Gülsün
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FAMILIAL Mediterranean fever , *PERIODIC diseases , *FEVER , *GENES - Abstract
Objective We aimed to evaluate frequency and distribution MEFV gene mutation variants in patients with presumptive diagnosis of Familial Mediterranean Fever (FMF). Material and Methods Patients who had undergone FMF targeted mutation analysis between September 2018 and September 2019 were retrospectively analyzed. Twenty-six distinct MEFV gene mutation variants were studied. Demographic and clinical data of study participants were collected from patient charts and hospital electronic database system. Results Out of 910 referred patients, 350 (38.5%) were found to have a positive FMF mutation. In total, we detected 41 different genotypes and 26 different mutations in the MEFV gene. The most common mutation and genotype were M694V and heterozygous M694V, respectively. Two hundred and seventy-six patients (78.9%) had a single mutation. Seventy-four patients had compound heterozygous mutation (21.1%). The most common compound heterozygous mutations were P369S/R408Q (23.3%). Five founder mutations constituted the seventy-five percent of the all mutations detected. Rare mutations that generally not examined in other studies were present in 15 patients (%4.2) in the form of two different compound heterozygous genotype. The total allele frequency of these rare mutations was 5%. Conclusion In this study, we examined an extended panel of MEFV mutations and detected more complex genotypes than most of the previous studies conducted in Turkish patients in the literature. [ABSTRACT FROM AUTHOR]
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- 2021
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11. Familial Mediterranean fever: Penetrance of the p.[Met694Val];[Glu148Gln] and p.[Met694Val];[=] genotypes.
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Eyal, Ori, Shinar, Yael, Pras, Mordechai, and Pras, Elon
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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.[Met694Val];[Glu148Gln] genotype (M694V/E148Q), and the heterozygous p.[Met694Val];[=] genotype is unknown. A difference in the penetrance of the latter two may indicate functionality for the p.Glu148Gln variant. We performed a penetrance estimation study using controls and patients of North African Jewish (NAJ) decent. FMF in this population is highly prevalent and mutation frequencies are well known. The ratio between the calculated frequencies of the three genotypes obtained from the control cohort and the actual frequency obtained from the patient cohort were used to determine the penetrance of p.[Met694Val];[Glu148Gln] and p.[Met694Val];[=]. We found a penetrance of 0.135 and 0.008 for p.[Met694Val];[Glu148Gln] and p.[Met694Val];[=], respectively. Thus, the penetrance of p.[Met694Val];[Glu148Gln] is more than 17 times higher than p.[Met694Val];[=], indicating an active role for p.Glu148Gln when combined with p.Met694Val. [ABSTRACT FROM AUTHOR]
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- 2020
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12. Ailevi Akdeniz Ateşi Hastalarında MEFV Geninin NGS ile Analizi: Tek Merkez Deneyimi.
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DÜZKALE TEKER, Neslihan and ÖZ, Özlem
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GENETIC disorder diagnosis , *ALLELES , *GENES , *INFLAMMATION , *RETROSPECTIVE studies , *SEQUENCE analysis - Abstract
Background: Familial Mediterranean fever (FMF) is an autoinflammatory multisystemic disease common seen in Mediterranean countries. The MEFV gene has been implicated in the disease. In this study, it was aimed to investigate the MEFV gene of patients with a pre-diagnosis of FMF by using NGS method. Materials and Methods: This retrospective study was held between 01.06.2018 - 01.07.2020 in Ankara Dışkapı Yıldırım Beyazıt Training and Research Hospital, Department of Medical Genetics. In this study, the findings of the MEFV gene of 220 patients with a pre-diagnosis of FMF, which were investigated by Next Generation Sequencing method, were evaluated. Results: The mean age of 220 patients (142 women, 78 men) in the study was 35.6 ± 11.4 years. Variant was detected in the MEFV gene in 131 (59%) of the patients. When allele numbers and frequencies were evaluated, the most frequently detected variants were M694V, V726A, M680I and E148Q, respectively. Of these variants, 152 were heterozygous, 20 were homozygous, 36 were compound heterozygous, and 3 were complex genotypes. Conclusion: The findings obtained in this study are consistent with data reported previously in patients with FMF group from Turkey. The performed NGS analysis made it possible to detect rare variants as well as the MEFV gene variants frequently observed in FMF patients. This work will contribute to the FMF gene Turkey spectral data. [ABSTRACT FROM AUTHOR]
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- 2020
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13. Optical coherence tomography-angiographic vascular densities in Familial Mediterranean Fever (FMF) Patients with M694V Mutations.
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Çavdarli, Cemal, Çavdarli, Büsranur, Topcu-Yilmaz, Pinar, and Polat Gültekin, Burcu
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OPTICAL coherence tomography , *FAMILIAL Mediterranean fever , *GENETIC mutation , *GENETIC disorders , *CARDIAC amyloidosis , *DENSITY - Abstract
Familial Mediterranean fever (FMF) is a hereditary auto-inflammatory disease with accompanying findings of amyloidosis and vasculitis. M694V is one of the most common mutations associated with amyloidosis. This study compared the macular optical coherence tomography angiography measurements in FMF patients who were genetically verified to carry the M694V mutation of the MEFV gene to those in healthy controls. The vessel densities (VDs) of superficial (SVP) and deep vascular plexus (DVP) of the retina, and choriocapillaris, foveal avascular zone (FAZ) perimetry, foveal VD 300µ around the FAZ (FD-300), acirculatory index (AI) and non-flow area were measured with optical coherence tomography angiography (OCT-A). The FMF and control groups were matched for age and gender. Compound heterozygous pathogenic variants were excluded. Thirty-eight FMF patients with M694V mutations (28 heterozygous and 10 homozygous) and 40 healthy controls were included. The two groups were similar with the regard to age and gender (P=0.88 and P=0.49, respectively). None of the investigated parameters, including the vessel densities of the SVP and DVP, and choriocapillaris, FAZ perimetry, FD-300, AI, and non-flow area showed a statistically significant difference between the FMF and control groups. The macular vessel density measurements and FAZ parameters of FMF patients with M694V mutations do not differ from age- and sex-matched healthy controls. [ABSTRACT FROM AUTHOR]
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- 2020
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14. Ailevi Akdeniz Ateşi Genetik Özellikleri ve Sistemik Hastalıklarla İlişkisi.
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DEMİR, Ayşe Kevser, DEVECİ, Hülya, ÖZMEN, Zeliha Cansel, KEFELİ, Ayşe, ŞAHİN, Şafak, TAŞLIYURT, Türker, and DEVECİ, Köksal
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FAMILIAL Mediterranean fever , *GENETIC mutation , *PHYSICAL medicine , *DISEASE complications , *PHYSICAL therapy - Abstract
Objective: This study aims to analyze the genetic characteristics of patients with familial Mediterranean fever (FMF) and to evaluate the relationship between FMF and systemic diseases. Material and Method: In this study, data of 277 AAA patients who applied to the Internal Medicine and Physical Therapy outpatient clinics of Tokat Gaziosmanpaşa University between January 2015 and May 2018 were evaluated retrospectively. Gender, age, FMF symptoms, concomitant systemic diseases and mutation analyzes were recorded. Results: Of the 277 AAA patients included in the study, 176 (63.5%) were female and 101 (36.5%) were male. The mean age of the patients was 33,6±11,8 years. A total of 170 (61%) of the FMF patients had a mutation analysis. Of them, 161 (95%) patients had mutation. The most common detected mutation was M694V (58.2%), while R202Q (27.6%) and V726A (18.2%) were the other common mutations. In 36 of 277 AAA patients (13%), a concomitant systemic disease was found, while the most common was Ankylosing spondylitis (7 patients). Conclusion: FMF is a common disease in our country. It is an autoinflammatory disease and may be associated with various inflammatory diseases and vasculitis. Mutations in the MEFV gene are detected in the majority of cases. The results of this study supported the heterogeneity of MEFV gene mutation and showed that patients in our region had a wide variety of mutations. [ABSTRACT FROM AUTHOR]
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- 2020
15. The importance of M694V mutation in systemic lupus erythematosus; implications for its role in neutrophil extracellular traps associated renal involvement
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Fariba Mohebichamkhorami, Shirin Farivar, and Mahmoud Rafieian Kopaei
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renal involvement ,m694v ,neutrophil extracellular traps ,systemic lupus erythematosus ,amyloidosis ,Pathology ,RB1-214 ,Internal medicine ,RC31-1245 ,Other systems of medicine ,RZ201-999 - Abstract
Background: Systemic lupus erythematosus (SLE) is characterized by multisystem organ involvement. Enhanced neutrophil extracellular traps (NETs) formation and release as well as impaired clearance of NETs have been reported in SLE patients. Renal involvement is common in SLE which might be through deposition of immune complexes within the kidneys. M694V mutation is one of the hot spots of Mediterranean fever gene (MEFV). MEFV mutations have been previously reported in a number of auto-inflammatory and autoimmune diseases in Iranian patients. Objectives: This case-control study was aimed to evaluate the potential influences of M694V gene mutation in SLE disease and in development of renal involvement. Patients and Methods: Genotyping of 130 patients and 116 healthy controls was done for M694V mutation (rs61752717, c.2080A>G) using amplification refractory mutation system- polymerase chain reaction (ARMS-PCR) method. Results: Significant differences in the alleles and genotypes frequencies of M694V mutation between SLE patients and ethnically matched healthy controls were detected in this study (9.9% versus 2.4% P=0.000, OR [odds ratio]= 4.277, CI= 2.213-8.265). Furthermore a significant difference of renal involvement between M694V mutation carriers versus noncarriers (8.5% versus 10.4%, P=0.017, OR= 2.149, CI= 1.135- 4.072). Conclusions: The association between M694V mutation and SLE susceptibility was observed. Additionally, renal involvement was significant in SLE patients compared to controls. This finding probably is developed through NET-associated Dnase1 inhibition and maybe amyloidosis. This study may help to explain the nature of the inflammatory state in mutation carriers and assist to an accurate understanding of how it influences SLE pathogenesis.
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- 2017
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16. Disease Severity and Genotype Affect Physical Growth in Children With Familial Mediterranean Fever.
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KIŞLA EKİNCİ, Rabia Miray, BALCI, Sibel, AKAY, Eray, DOĞRUEL, Dilek, ALTINTAŞ, Derya Ufuk, and YILMAZ, Mustafa
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GENETIC disorder diagnosis , *CHILD development deviations , *ANTHROPOMETRY , *BODY weight , *CHILD development , *CHILDREN'S health , *GENETIC disorders , *INFLAMMATION , *GENETIC mutation , *PHYSICIANS , *RISK assessment , *STATURE , *ADOLESCENT health , *RETROSPECTIVE studies , *SEVERITY of illness index , *SEQUENCE analysis , *GENOTYPES , *DISEASE complications , *EVALUATION ,RISK factors - Abstract
Objectives: This study aims to analyze the growth parameters in children with familial Mediterranean fever (FMF) according to disease characteristics including genotype and disease severity by a recently validated tool in relatively more patients. Patients and methods: This retrospective study included 126 patients with FMF (70 males, 56 females; mean age 7.3±3.6 years; range, 4.1 to 18 years). MEditerranean FeVer (MEFV) gene analysis was performed with a molecular diagnostics tool by using a next-generation sequencing platform. Disease severity was determined for the first visit by the validated tool in children, international severity scoring system for FMF. Growth parameters including weight and height were investigated after standard deviation (SD) scores were calculated by anthropometric references in Turkish children. Results: Median follow-up duration was 74.7 months (range, 7.5 to 169 months). Ninety-three patients (73.8%) had at least one M694V mutation in MEFV gene. Six patients (4.8%) had severe disease, 58 (46%) had intermediate severity, and 62 (49.2%) had mild disease. Mean height SD score was significantly lower at last visit than before colchicine treatment. Initial and last height and weight SD scores were lower in patients with at least one M694V mutation than those without. However, the difference was statistically significant for only initial height SD score. We also found statistically significant lower initial height, final height, and weight SD scores in patients with intermediate severity-severe disease activity than mild disease. Conclusion: We advise physicians to score disease severity prospectively and pay attention to patients with intermediate severity-severe disease to avoid growth disturbances. [ABSTRACT FROM AUTHOR]
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- 2019
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17. The distribution of MEFV mutations in Turkish FMF patients: multicenter study representing results of Anatolia.
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YAŞAR BİLGE, N. Şule, SARI, İsmail, SOLMAZ, Dilek, ŞENEL, Soner, EMMUNGİL, Hakan, KILIÇ, Levent, YILMAZ ÖNER, Sibel, YILDIZ, Fatih, YILMAZ, Sedat, ERSÖZLU BOZKIRLI, Duygu, AYDIN TUFAN, Müge, YILMAZ, Sema, YAZISIZ, Veli, PEHLİVAN, Yavuz, BES, Cemal, YILDIRIM ÇETİN, Gözde, ERTEN, Şükran, GÖNÜLLÜ, Emel, ŞAHİN, Fezan, and AKAR, Servet
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FAMILIAL Mediterranean fever , *GENETIC testing , *GENE frequency - Abstract
Background/aim: The distribution of Mediterranean fever (MEFV) gene mutations in Turkish familial Mediterranean fever (FMF) patients varies according to geographic area of Turkey. There is a need for highly representative data for Turkish FMF patients. The aim of our study was to investigate the distribution of the common MEFV mutations in Turkish FMF patients in a nationwide, multicenter study. Materials and methods: Data of the 2246 FMF patients, from 15 adult rheumatology clinics located in different parts of the country, were evaluated retrospectively. The following mutations have been tested in all patients: M694V, M680I, M694I, V726A, and E148Q. Results: There were 1719 FMF patients with available genetic testing. According to the genotyping, homozygous M694V, present in 413 patients (24%), was the most common mutation. One hundred and fifty-four (9%) of patients had no detectable mutations. Allele frequencies of common mutations were: M694V (n = 1529, 44.5%), M680I (n = 423, 12.3%), V726A (n = 315, 9.2%), E148Q (n = 214, 1%), and M694I (n = 12, <1%). Conclusion: In this large-scale multicenter study, we provided information about the frequencies of common MEFV gene mutations obtained from adult Turkish FMF patients. Nearly half of the patients were carrying at least one M694V mutations in their alleles. [ABSTRACT FROM AUTHOR]
- Published
- 2019
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18. Exon 2: Is it the good police in familial mediterranean fever?
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Bilge, Şule Yaşar, Solmaz, Dilek, Şenel, Soner, Emmungil, Hakan, Kılıç, Levent, Öner, Sibel Yılmaz, Yıldız, Fatih, Yılmaz, Sedat, Bozkırlı, Duygu Ersözlü, Tufan, Müge Aydın, Yılmaz, Sema, Yazısız, Veli, Pehlivan, Yavuz, Beş, Cemal, Çetin, Gözde Yıldırım, Erten, Şükran, Gönüllü, Emel, Şahin, Fezan, Akar, Servet, and Aksu, Kenan
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FAMILIAL Mediterranean fever - Abstract
Objective: Familial Mediterranean fever (FMF) is the most common autoinflammatory disease. Most of the identified disease-causing mutations are located on exon 10. As the number of studies about the effect of the exonal location of the mutation and its phenotypic expression is limited, we aimed to investigate whether the exonic location of the Mediterranean fever (MEFV) mutation has an effect on the clinical manifestation in patients with FMF. Methods: Study population was derived from the main FMF registry that included 2246 patients from 15 different rheumatology clinics. We categorized the mutations according to their exon locations and retrieved the clinical and demographic information from the database. Results: Patients having the MEFV mutations on exon 2 or 10 (n:1526) were divided into three subgroups according to the location of the MEFV mutations: Group 1 (exon 2 mutations), Group 2 (exon 10 mutations), and Group 3 (both exon 2 and exon 10 mutations). Group 2 patients were of a significantly younger age at onset, and erysipel-like erythema, arthritis, amyloidosis, and a family history of FMF were more common in this group. Conclusion: Patients with FMF and exon 10 mutations show more severe clinical symptoms and outcome. Exon 2 mutations tend to have a better outcome. [ABSTRACT FROM AUTHOR]
- Published
- 2019
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19. Exon 2: Is it the good police in familial mediterranean fever?
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Bilge, Şule Yaşar, Solmaz, Dilek, Şenel, Soner, Emmungil, Hakan, Kılıç, Levent, Öner, Sibel Yılmaz, Yıldız, Fatih, Yılmaz, Sedat, Bozkırlı, Duygu Ersözlü, Tufan, Müge Aydın, Yılmaz, Sema, Yazısız, Veli, Pehlivan, Yavuz, Beş, Cemal, Çetin, Gözde Yıldırım, Erten, Şükran, Gönüllü, Emel, Şahin, Fezan, Akar, Servet, and Aksu, Kenan
- Abstract
Objective: Familial Mediterranean fever (FMF) is the most common autoinflammatory disease. Most of the identified disease-causing mutations are located on exon 10. As the number of studies about the effect of the exonal location of the mutation and its phenotypic expression is limited, we aimed to investigate whether the exonic location of the Mediterranean fever (MEFV) mutation has an effect on the clinical manifestation in patients with FMF. Methods: Study population was derived from the main FMF registry that included 2246 patients from 15 different rheumatology clinics. We categorized the mutations according to their exon locations and retrieved the clinical and demographic information from the database. Results: Patients having the MEFV mutations on exon 2 or 10 (n:1526) were divided into three subgroups according to the location of the MEFV mutations: Group 1 (exon 2 mutations), Group 2 (exon 10 mutations), and Group 3 (both exon 2 and exon 10 mutations). Group 2 patients were of a significantly younger age at onset, and erysipel-like erythema, arthritis, amyloidosis, and a family history of FMF were more common in this group. Conclusion: Patients with FMF and exon 10 mutations show more severe clinical symptoms and outcome. Exon 2 mutations tend to have a better outcome. [ABSTRACT FROM AUTHOR]
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- 2018
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20. Comparison of early versus late onset familial Mediterranean fever.
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Yasar Bilge, Nazife Sule, Sari, Ismail, Solmaz, Dilek, Senel, Soner, Emmungil, Hakan, Kilic, Levent, Yilmaz Oner, Sibel, Yildiz, Fatih, Yilmaz, Sedat, Ersozlu Bozkirli, Duygu, Aydin Tufan, Muge, Yilmaz, Sema, Yazisiz, Veli, Pehlivan, Yavuz, Bes, Cemal, Yildirim Cetin, Gozde, Erten, Sukran, Gonullu, Emel, Sahin, Fezan, and Akar, Servet
- Subjects
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FAMILIAL Mediterranean fever , *RHEUMATOLOGY , *AMYLOIDOSIS , *GENETIC mutation , *PERIODIC diseases - Abstract
Abstract: Aim: Familial Mediterranean fever (FMF) is the most common autoinflammatory disease. One of the common characteristics of this disease is its young age predominance. Nearly 90% of patients experience disease flares during early adult age periods. Currently there are limited data for the comparison of early versus late onset FMF and therefore the primary aim of this study was to investigate these two subsets with regard to their certain demographic, clinical and genetic differences. Methods: Early (≤ 20 years, Group 1) and late (> 20 years, Group 2) onset FMF patients were identified from the national FMF registry that involves 2246 patients from 15 adult rheumatology clinics located in different geographical areas of Turkey. Results: Of the 2246 patients, 1633 (72.7%) were aged ≤ 20 years old (Group 1) and the remaining 613 were older than 20 years (Group 2). Delay in diagnosis was longer in Group 1 and fever, peritonitis, pleuritis, erysipelas‐like erythema (ELE), arthritis, family history of FMF and amyloidosis were more common in Group 1. On the other hand, sex distribution, rates of amyloidosis, vasculitis and kidney failure were not different between the groups. Among patients with available genotypes, homozygous and heterozygous M694V mutations were significantly higher and heterozygous E148Q mutation was significantly lower in Group 1 compared to Group 2. Conclusion: Patients with FMF whose symptoms start before 20 years of age seem to have severe symptoms and M694V mutation may be responsible for the early expression of the disease. [ABSTRACT FROM AUTHOR]
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- 2018
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21. The importance of M694V mutation in systemic lupus erythematosus; implications for its role in neutrophil extracellular traps associated renal involvement.
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Mohebichamkhorami, Fariba, Farivar, Shirin, and Kopaei, Mahmoud Rafieian
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GENETIC mutation , *SYSTEMIC lupus erythematosus , *NEUTROPHILS - Abstract
Background: Systemic lupus erythematosus (SLE) is characterized by multisystem organ involvement. Enhanced neutrophil extracellular traps (NETs) formation and release as well as impaired clearance of NETs have been reported in SLE patients. Renal involvement is common in SLE which might be through deposition of immune complexes within the kidneys. M694V mutation is one of the hot spots of Mediterranean fever gene (MEFV). MEFV mutations have been previously reported in a number of auto-inflammatory and autoimmune diseases in Iranian patients. Objectives: This case-control study was aimed to evaluate the potential influences of M694V gene mutation in SLE disease and in development of renal involvement. Patients and Methods: Genotyping of 130 patients and 116 healthy controls was done for M694V mutation (rs61752717, c.2080A>G) using amplification refractory mutation system- polymerase chain reaction (ARMS-PCR) method. Results: Significant differences in the alleles and genotypes frequencies of M694V mutation between SLE patients and ethnically matched healthy controls were detected in this study (9.9% versus 2.4% P = 0.000, OR [odds ratio] = 4.277, CI = 2.213-8.265). Furthermore a significant difference of renal involvement between M694V mutation carriers versus noncarriers (8.5% versus 10.4%, P = 0.017, OR = 2.149, CI = 1.135-4.072). Conclusions: The association between M694V mutation and SLE susceptibility was observed. Additionally, renal involvement was significant in SLE patients compared to controls. This finding probably is developed through NET-associated Dnase1 inhibition and maybe amyloidosis. This study may help to explain the nature of the inammatory state in mutation carriers and assist to an accurate understanding of how it influences SLE pathogenesis. [ABSTRACT FROM AUTHOR]
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- 2017
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22. Analysis of the Most Common Three MEFV Mutations in 630 Patients with Familial Mediterranean Fever in Iranian Azeri Turkish Population.
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BAGHERI, Morteza and RAD, Isa Abdi
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FAMILIAL Mediterranean fever , *PERIODIC diseases , *GENES , *POLYMERASE chain reaction , *GENETIC mutation - Abstract
Introduction: The aim of the present study was to determine the frequency of M694V, M680I and V726A mutations of the MEFV gene in 630 Azeri Turkish patients with family Mediterranean fever. Material and Methods: The MEFV gene mutations were detected using allele-specific oligonucleotide polymerase chain reaction. Outcomes: 630 cases with a mean age ± SD of 28.54±16.54 ranging from 2.5 to 76 years old including 268 (42.54%) males and 362 (57.46%) females, were tested. Nineteen patients were homozygote for one mutation (3.02%), 127 were heterozygote for one mutation (20.2%) and 18 were compound heterozygote for two mutations (2.86%). Mutation analysis confirmed that the most common mutation was M694V 109 (8.65%). V726A and M680I mutations accounted for 4.44% of the alleles; V726A 32 (2.54%) and M680I 24 (1.9%). In this study, compound heterozygote for M694V and V726A, M694V and M680I, and V726A and M680I mutations were found in 1.43%, 0.79%, and 0.63% from West Azerbaijan province in exon 10. Mutation was found in 164 (26.03%) of cases regarding analysis of the three most common MEFV mutations, but in 466 (73.97%) of cases, no mutation was detected. Among our samples, the frequencies of mutant genotypes were 15 (2.38%), 1 (0.15%), 3 (0.47%), 9 (1.42%), 4 (0.63%) and 5 (0.79%), regarding M694V/M694V, M680I/M680I, V726A/V726A, M694V/ V726A, M680I/ V726A and M680I/M694V, respectively. In our samples, 79 (12.53%), 26 (4.12%), and 22 (3.49%) cases had M694V/normal, V726A/normal, and M680I/normal genotypes regarding M694V, V726A, and M680I mutations, respectively. Conclusions: The M694V mutation is the most common risk factor for family Mediterranean fever in our group. [ABSTRACT FROM AUTHOR]
- Published
- 2017
23. Relationship between periodontal destruction and gene mutations in patients with familial Mediterranean fever.
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Sezer, Ufuk, Şenyurt, Süleyman, Özdemir, Eda, Zengin, Orhan, Üstün, Kemal, Erciyas, Kamile, Kısacık, Bünyamin, and Onat, Ahmet
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FAMILIAL Mediterranean fever , *PERIODONTITIS , *MISSENSE mutation , *MULTIVARIATE analysis , *SUBGINGIVAL curettage , *COLCHICINE , *THERAPEUTICS , *DISEASE risk factors - Abstract
Recent studies have shown that genetic factors involved in the host responses might determine the disease severity for both familial Mediterranean fever (FMF) and periodontitis. The present study aimed to investigate the relationship of FMF with periodontitis and to search for the potential association between periodontitis and MEFV gene missense variations in patients with FMF. The study consisted of 97 FMF patients and 34 healthy volunteers. FMF patients were classified according to the kind of MEFV gene mutation: (1) patients with homozygous M694V gene mutation, (2) patients with heterozygous M694V gene mutation, and (3) patients with MEFV gene different mutations. Gingival Index (GI), Plaque Index (PI), probing pocket depth (PD), and clinical attachment level (CAL) were measured in all participants. The results of multivariate logistic regression showed a highly significant association between homozygous M694V gene mutation and periodontitis in FMF patients ( p < 0.05). After adjusting for potential confounders (smoking, body weight, age, and gender), FMF patients with homozygous M694V gene mutation were 3.51 (1.08-11.45) times more likely to present periodontitis than the other FMF patients. These results indicate that the presence of homozygous M694V gene mutation seems to increase the risk for periodontitis in FMF patients. [ABSTRACT FROM AUTHOR]
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- 2016
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24. Disease Severity and Genotype Affect Physical Growth in Children With Familial Mediterranean Fever
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Rabia Miray Kisla Ekinci, Sibel Balci, Eray Akay, Derya Ufuk Altintas, Mustafa Yilmaz, Dilek Doğruel, and Çukurova Üniversitesi
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medicine.medical_specialty ,business.industry ,Familial Mediterranean fever ,Retrospective cohort study ,Growth ,macromolecular substances ,Disease ,Anthropometry ,MEFV ,Affect (psychology) ,medicine.disease ,M694V ,Rheumatology ,Internal medicine ,Genotype ,medicine ,Familial mediterranean fever ,Original Article ,business ,Disease severity ,International severity scoring system for familial mediterranean fever - Abstract
Objectives: This study aims to analyze the growth parameters in children with familial Mediterranean fever (FMF) according to disease characteristics including genotype and disease severity by a recently validated tool in relatively more patients. Patients and methods: This retrospective study included 126 patients with FMF (70 males, 56 females; mean age 7.3±3.6 years; range, 4.1 to 18 years). MEditerranean FeVer (MEFV) gene analysis was performed with a molecular diagnostics tool by using a next-generation sequencing platform. Disease severity was determined for the first visit by the validated tool in children, international severity scoring system for FMF. Growth parameters including weight and height were investigated after standard deviation (SD) scores were calculated by anthropometric references in Turkish children. Results: Median follow-up duration was 74.7 months (range, 7.5 to 169 months). Ninety-three patients (73.8%) had at least one M694V mutation in MEFV gene. Six patients (4.8%) had severe disease, 58 (46%) had intermediate severity, and 62 (49.2%) had mild disease. Mean height SD score was significantly lower at last visit than before colchicine treatment. Initial and last height and weight SD scores were lower in patients with at least one M694V mutation than those without. However, the difference was statistically significant for only initial height SD score. We also found statistically significant lower initial height, final height, and weight SD scores in patients with intermediate severity-severe disease activity than mild disease. Conclusion: We advise physicians to score disease severity prospectively and pay attention to patients with intermediate severity-severe disease to avoid growth disturbances. © 2019 Turkish League Against Rheumatism.
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- 2019
25. MEFV mutations in Northwest of Iran: a cross sectional study.
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Bonyadi, Morteza Jabbarpour, Sousan Mir Najd Gerami, Mohammad Hossein Somi, and Dastgiri, Saeed
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FAMILIAL Mediterranean fever , *GENETIC mutation , *PERITONITIS , *PLEURISY , *ARTHRITIS - Abstract
Objective(s):Familial Mediterranean Fever (FMF) is an autosomal recessive disorder characterized by recurrent episodes of fever accompanied by peritonitis, pleurisy, and arthritis. FMF affects mainly Mediterranean populations and is caused by mutations in the familial Mediterranean fever (MEFV) gene. The aim of this study was to identify the frequency and distribution of MEFV mutations in Iranian Azerbaijanis with FMF. Materials and Methods:Medical records of 1330 Iranian Azerbaijanis who were diagnosed with FMF according to Tel-Hashomer criteria from May 2006 to April 2013 were reviewed and 10 MEFV mutations were found in affected individuals. Results:243 patients (18.27%) were homozygous, 370 (27.82%) were compound heterozygous and 717 (53.91%) were identified as heterozygous for one of the studied mutations. Of the studied mutations, M694V, E148Q, V726A, M680I, and M694I accounted for 42%, 21%, 19%, 14% and 2% of mutations respectively. Conclusion:In our study, M694V was found to be the most prevalent mutation. M694I, the most common mutation among Arabs, is rare in this cohort. Allele frequencies of the common mutations in our studied population have some similarities to those of the Turkish population reported previously. However, M680I is less common in our cohort. [ABSTRACT FROM AUTHOR]
- Published
- 2015
26. Comparison of clinical findings and pathogenic mutations among axial spondyloarthritis subgroups in familial mediterranean fever disease
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Ayar, Koray, Ermurat, Selime, Toka, Dilara, and Öztürk, Esra Kösegil
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V726A ,Rheumatology ,Familial Mediterranean fever,M694V,Spondyloarthritis,Sacroiliitis,V726A ,Spondyloarthritis ,Spondiloartrit ,Ailevi Akdeniz ateşi,M694V,Spondiloartrit,Sakroileit,V726A ,Sakroilit ,Sacroiliitis ,Ailevi Akdeniz ateşi ,Familial Mediterranean fever ,Romatoloji ,M694V - Abstract
Bu çalışmada, Ailevi Akdeniz ateşi (FMF) hastalığı olan radyografik olan ve olmayan aksiyel spondiloartrit (aks-SpA) hastaları arasında, Akdeniz Ateşi (MEFV) gen mutasyonlarının ve FMF ilişkili klinik bulguların karşılaştırılması amaçlanmıştır. Çalışmada Ocak 2015-Temmuz 2020 tarihleri arasında FMF hastalığı tanısı ile takip edilmekte olan hastaların dosyaları retrospektif olarak incelendi. Hastaların genetik tetkikleri, klinik bulguları ve sakroilyak eklemin röntgen ve manyetik rezonans görüntüleme tetkikleri incelendi. Uluslararası Spondiloartrit Değerlendirme Birliği (ASAS) kriterlerine göre aks-SpA hastaları radyografik olan ve olmayan şeklinde gruplandırılarak çalışmaya dahil edildi ve bulgular gruplar arasında karşılaştırıldı. Aks-SpA tespit edilen toplam 36 hasta (24 radyografik, 12 radyografik olmayan) çalışmaya dahil edildi. Test sonuçlarına ulaşılabilen 11 aks-SpA hastasının hepsinde insan lökosit antijeni (HLA)B27 genetik test sonucu negatif bulundu. Radyografik olan ve olmayan aks-SpA hastaları arasında klinik bulgular, kolşisin yanıtı ve aile öyküsü farklı değildi. M694V mutasyonunun fenotipik frekansı radyografik olan ve olmayan aks-SpA grupları arasında sırasıyla, %91,7 ve %50,0 bulundu (p=0,005). V726A mutasyonunun fenotipik frekansı radyografik olan ve olmayan aks-SpA grupları arasında sırasıyla, %0 ve %25,0 bulundu (p=0,011). Sonuç olarak FMF’ye eşlik eden aks-SpA’nın alt grupları arasında FMF klinik bulguları farklı değildir. M694V mutasyonu röntgen bulgularının belirgin olduğu SpA alt grubunda, V726A mutasyonu da röntgen bulguları belirgin olmayan SpA alt grubunda daha sıktırlar ve bu mutasyonlar sık görüldükleri SpA alt gruplarının etyolojisinde rol oynuyor olabilirler., In this study, it was aimed to compare the Mediterranean Fever (MEFV) gene mutations and familial Mediterranean fever (FMF)-related clinical findings between radiographic and non-radiographic axial spondyloarthritis (ax-SpA) patients with FMF disease. In the study, the charts of the patients who were followed up with a diagnosis of FMF disease between January 2015 and July 2020 were retrospectively examined. Genetic examinations, clinical findings and x-ray graphs and magnetic resonance imaginations of the sacroiliac joints were examined. According to The Assessment of Spondyloarthritis International Society (ASAS) criteria, ax-SpA patients were grouped as radiographic and non-radiographic, and the findings were compared between the groups. A total of 36 patients (24 radiographic, 12 non-radiographic) with ax-SpA were included in the study. Human leukocyte antigen (HLA) B27 genetic test results were negative in all 11 patients with ax-SpA whose test results were available. Clinical findings, colchicine response, and family history were not different between radiographic and non-radiographic ax-SpA patients. The phenotypic frequency of the M694V mutation was 91.7% and 50.0% among the radiographic and non-radiographic ax-SpA groups, respectively (p = 0.005). The phenotypic frequency of the V726A mutation was 0% and 25.0%, among the radiographic and non-radiographic ax-SpA groups, respectively (p = 0.011). As a result, FMF clinical findings are not different among subgroups of ax-SpA accompanying FMF. M694V mutation is more common in the SpA subgroup where X-ray findings are evident, and the V726A mutation is more common in the SpA subgroup with no X-ray findings, and these mutations may play a role in the etiology of the SpA subgroups in which they are common.
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- 2021
27. The prevalence of Familial Mediterranean Fever common gene mutations in patients with simple febrile seizures.
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ÖZEN, F., KOÇAK, N., KELEKÇI, S., YILDIRIM, I. H., HACIMUTO, G., and ÖZDEMIR, Ö.
- Abstract
BACKGROUND: Febrile seizures (FS) represent the most common form of childhood seizures that occurs in 2-5 % of the children younger than 6 years. There have been many recent reports on the molecular genetic and pathogenesis of FC. It has been recognized that there is significant genetic component for susceptibility of FC with different reported mutation. FEB1, FEB2, FEB4, SCNA1, SCNA2, GABRG2 and IL-1β are related to with febrile convulsions (FCs). Interleukin 1β (IL-1β) is a cytokine that contributes to febrile inflammatory responses. There are conflicting results on increasing this cytokine in serum during FC. AIM: The determine the association between mutations of MEFV gene product pyrine and febrile seizures. PATIENTS AND METHODS: The study was carried out on 104 children that were diagnosed as FS and 96 healthy children. MEFV gene mutations were detected and analyzed with Pyro- Mark Q24. PCR was performed using the Pyro- Mark PCR Kit and pyrosequencing reaction was conducted on instrument instructions. RESULTS: M694V is the most common mutation in our patient group and we found a significant association between MEFV gene mutations and FSs. Of 104 patients, 68 were heterozygotes for any mutation and 10 patients were compound. 17.7% of control group were heterozygotes for any studied mutation.Statistical analyses showed that there was strongly significant statistical difference between results obtained from FS and control group (X = 46.20, p < 0.0001). CONCLUSIONS: MEFV gene mutations, especially M694V mutation, are positively associated with FSs. [ABSTRACT FROM AUTHOR]
- Published
- 2014
28. Exon 2: Is it the good police in familial mediterranean fever?
- Author
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Yavuz Pehlivan, M. Cinar, Emel Gönüllü, Dilek Solmaz, Bunyamin Kisacik, Umut Kalyoncu, Müge Aydın Tufan, Fezan Sahin, Sibel Yilmaz Oner, Eren Erken, Cemal Bes, Haner Direskeneli, Veli Yazisiz, Duygu Ersozlu Bozkirli, Ismail Sari, Gozde Yildirim Cetin, Mehmet Sayarlioglu, Levent Kilic, Şule Yaşar Bilge, Timuçin Kaşifoğlu, Fatih Yildiz, Servet Akar, Sedat Yilmaz, Soner Senel, Kenan Aksu, Hakan Emmungil, Şükran Erten, Sema Yilmaz, Çukurova Üniversitesi, Selçuk Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Yılmaz, Sema, Ege Üniversitesi, Bilge, Sule Yasar, Solmaz, Dilek, Senel, Soner, Emmungil, Hakan, Kilic, Levent, Oner, Sibel Yilmaz, Yidiz, Fatih, Yilmaz, Sedat, Bozkirli, Duygu Ersozlu, Tufan, Muge Aydin, Yilmaz, Sema, Yazisiz, Veli, Pehlivan, Yavuz, Bes, Cemal, Cetin, Gozde Yildirim, Erten, Sukran, Gonullu, Emel, Sahin, Fezan, Akar, Servet, Aksu, Kenan, Kalyoncu, Umut, Direskeneli, Haner, Erken, Eren, Kisacik, Bunyamin, Sayarlioglu, Mehmet, Cinar, Muhammed, Kasifoglu, Timucin, and Sari, Ismail
- Subjects
lcsh:Immunologic diseases. Allergy ,0301 basic medicine ,medicine.medical_specialty ,Familial Mediterranean fever ,E148Q ,medicine.disease_cause ,FREQUENCY ,M694V ,REGION ,03 medical and health sciences ,Exon ,0302 clinical medicine ,exon 2 ,familial Mediterranean fever ,Internal medicine ,medicine ,Family history ,030203 arthritis & rheumatology ,Mutation ,business.industry ,MEFV MUTATIONS ,Amyloidosis ,medicine.disease ,MEFV ,Rheumatology ,030104 developmental biology ,Population study ,Original Article ,lcsh:RC581-607 ,business ,GENE-MUTATIONS ,exon 10 - Abstract
WOS: 000463722100007, PubMed ID: 30489254, Objective: Familial Mediterranean fever (FMF) is the most common autoinflammatory disease. Most of the identified disease-causing mutations are located on exon 10. As the number of studies about the effect of the exonal location of the mutation and its phenotypic expression is limited, we aimed to investigate whether the exonic location of the Mediterranean fever (MEFV) mutation has an effect on the clinical manifestation in patients with FMF. Methods: Study population was derived from the main FMF registry that included 2246 patients from 15 different rheumatology clinics. We categorized the mutations according to their exon locations and retrieved the clinical and demographic information from the database. Results: Patients having the MEFV mutations on exon 2 or 10 (n: 1526) were divided into three subgroups according to the location of the MEFV mutations: Group 1 (exon 2 mutations), Group 2 (exon 10 mutations), and Group 3 (both exon 2 and exon 10 mutations). Group 2 patients were of a significantly younger age at onset, and erysipel-like erythema, arthritis, amyloidosis, and a family history of FMF were more common in this group. Conclusion: Patients with FMF and exon 10 mutations show more severe clinical symptoms and outcome. Exon 2 mutations tend to have a better outcome.
- Published
- 2018
29. Association of clinical and genetical features in FMF with focus on MEFV strip assay sensitivity in 452 children from western Anatolia, Turkey.
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Ozturk, Can, Halıcıoglu, Oya, Coker, Işıl, Gulez, Nesrin, Sutçuoglu, Sumer, Karaca, Neslihan, Aksu, Guzide, and Kutukculer, Necil
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FAMILIAL Mediterranean fever , *JUVENILE diseases , *GENETICS , *SPLEEN , *CONSTIPATION , *PHENOTYPES , *ALLELES - Abstract
The aim of this study was to determine the relationship between clinical findings and the most common mutated alleles of MEFV gene in a childhood population and to determine the sensitivity of the 12-mutation-strip assay test in familial Mediterranean fever (FMF). Records of 452 FMF children living in western Anatolia, Turkey, (12.3 ± 4.7 years mean) were retrospectively reviewed. Of the 408 patients who met the Tel-Hashomer criteria, 364 were classified into two main groups (two-mutant/one-mutant allele) either of which had three subgroups. The two-mutant allele frequency was 51% and one-mutant allele 38%; 1% had complex-mutant alleles and 10% no mutant-alleles. The mean severity score was 8.3 ± 2.5. Most common clinical features were fever (81.9%), abdominal pain (86.3%) and myalgia (58.8%), and the least common ones: diarrhea (1.7%), protracted febrile myalgia (1.2%) and acute orchitis (1.5%). We detected 33 different genotypes of the MEFV gene: the most common mutant allele was M694V followed by symptomatic allele mutation of E148Q. Although not significantly associated with clinical findings, P369S mutation was not rare (7.5%). Phenotype-genotype correlation revealed that patients with two-allele mutations had more severe clinical presentation and high constipation rate (22.5%); 32.6% of patients with M694V/M694V had splenomegaly. Acute orchitis and protracted febrile myalgia as rare clinical findings were more common in M694V homozygotes. Comparisons of clinical findings among patients with one-mutation allele were made for the first time, but no significant association was found. Positive predictive value of strip assay screening for 12 mutations was recorded as 89%. We suggest that whole sequence analysis for supportive diagnosis of FMF should be performed for selected patients only. [ABSTRACT FROM AUTHOR]
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- 2012
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30. Arthritis patterns in familial Mediterranean fever patients and association with M694V mutation.
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Jarjour, Rami A. and Dodaki, Reem
- Abstract
Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurrent attacks of febrile peritonitis, pleuritis and synovitis. Arthritis is a common and important feature of FMF. The clinical spectrum of arthritis in 71 FMF patients was retrospectively investigated. Mutations in the familial Mediterranean ( MEFV) gene were screened. Unlike the previous reports on arthritis of FMF, most of the FMF patients (59%) in this study had symmetric two-joint arthritis whereas monoarticular, oligoarticular and polyarticular arthritis was presented in 20, 8 and 10% of the patients, respectively. Knees were affected in 45 (63%) patients, ankles in 30 (42%), elbows in 11 (15%), wrists in 12 (17%), hips in 12 (17%), small joints of the hands 7 (10%), small joints of the feet 2 (3%) and sacroiliac in 1 (1%). Destruction of the hip was observed in 2 (3%) patients and required hip replacement. Amyloidosis developed in 2 (3%) of our patients. Mutations in the MEFV gene were identified in 50 (71%) patients and the most dominant mutation detected was M694V (64%). Since FMF can be diagnosed by a simple DNA mutation analysis, all arthritis patients of certain origins (Arabs, Turks, Armenians and Jews) should be tested for FMF in order to prevent the complications (amyloidosis and protracted arthritis) by introducing colchicine which is the treatment of choice for FMF. [ABSTRACT FROM AUTHOR]
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- 2011
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31. Familial Mediterranean fever gene mutations in the Southeastern region of Turkey and their phenotypical features.
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Pasa, Semi˙r, Altintas, Abdullah, Devecioglu, Bi˙lge, Cil, Ti˙muci˙n, Danis, Ramazan, Isi, Hi˙lmi˙, Bayan, Kadi˙m, Tuzun, Yekta, Ecer, Sultan, Batun, Sabri˙, and Ayyildiz, Orhan
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FAMILIAL Mediterranean fever , *PERIODIC diseases , *GENETIC mutation , *PATIENTS - Abstract
Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent inflammatory attacks of serosal membranes. Several studies have focused on the differences between frequency of the mutations and their phenotypical manifestations. The aim of this study was to evaluate whether or not this phenotypical variation is associated with the existence of particular mutations. Twelve MEFV (Mediterranean fever) gene mutations were investigated in 119 patients suffering from FMF. Heterozygote M694V (21/119), heterozygote E148Q (21/119), homozygote M694V (17/119) and heterozygote V726A (12/119) mutations were the most common mutations. Patients were grouped according to the presence of the M694V mutation: group I was M694V/M694V, group II was M694V/others, and group III was other/other. Mean severity scores for the groups were 13.94 ± 4.10, 10.79 ± 3.01 and 8.31 ± 2.26, respectively. There were statistically significant differences between the mean severity scores of groups I and II (p = 0.029), groups I and III (p < 0.0001), and groups II and III (p < 0.0001). Diagnosis of amyloidosis was established in four (23%) patients of group I, and three (8%) patients of group II, but in none of the patients in group III. There was also a statistically significant difference between groups I and III (p = 0.046), but not between groups II and III (p = 0.083) and groups I and II (p = 0.317) in terms of amyloidosis development. In conclusion, we found a higher disease severity score and higher prevalence of amyloidosis in FMF patients who were M694V mutation carriers. Many ethnic groups live in Anatolia and more ethnic origin-based studies are needed to determine the real effect of these mutations on disease severity and amyloidosis. [ABSTRACT FROM AUTHOR]
- Published
- 2008
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32. Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations
- Author
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Medlej-Hashim, Myrna, Serre, Jean-Louis, Corbani, Sandra, Saab, Odile, Jalkh, Nadine, Delague, Valérie, Chouery, Eliane, Salem, Nabiha, Loiselet, Jacques, Lefranc, Gérard, and Mégarbané, André
- Subjects
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GENETIC mutation , *HEREDITY , *GENETICS , *DEMOGRAPHIC surveys - Abstract
Abstract: Familial Mediterranean fever (FMF) is an autosomal recessive disease mostly frequent in Mediterranean populations. Over 50 mutations have been identified in the gene responsible for the disease, MEFV. The present study reports the frequencies of MEFV mutations in 558 Lebanese and 55 Jordanian FMF patients and points out the severity of the M694V frequently observed mutation among these patients. Three novel mutations, T177I, S108R and E474K were also identified in the Lebanese group. An excess of homozygotes and a deficit of heterozygotes were observed in both samples when compared to the expected number of observed genotypes under the Hardy–Weinberg hypothesis. Homozygotes for M694V and M694I were still in excess in the Lebanese group of patients, even after consanguinous homozygotes were removed, or population structure was considered. This excess is therefore neither due to consanguinity nor to subgroups in the Lebanese population, but rather to more remote consanguinity or to a selection bias favoring the census of these genotypes. The fact that FMF female patients were less censed than male patients may be due to the greater resistance of females to pain and to the possibility of confusing abdominal and gynecological pain. The phenotypic heterogeneity of the FMF could then originate both from genetic causes like allelic heterogeneity or modulating genes, and cultural background facing the physiological consequences of genotypes at risk. [Copyright &y& Elsevier]
- Published
- 2005
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33. The distribution of MEFV mutations in Turkish FMF patients: Multicenter study representing results of Anatolia
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Bilge, N. Şule Yaşar, Sarı, İsmail, Solmaz, Dilek, Şenel, Soner, Emmungil, Hakan, Bes, Cemal, BAİBÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, and Bes, Cemal
- Subjects
Turkey ,Mediterranean Fever Gene Mutations ,M694V ,Familial Mediterranean Fever - Abstract
Background/aim: The distribution of Mediterranean fever (MEFV) gene mutations in Turkish familial Mediterranean fever (FMF) patients varies according to geographic area of Turkey. There is a need for highly representative data for Turkish FMF patients. The aim of our study was to investigate the distribution of the common MEFV mutations in Turkish FMF patients in a nationwide, multicenter study. Materials and methods: Data of the 2246 FMF patients, from 15 adult rheumatology clinics located in different parts of the country, were evaluated retrospectively. The following mutations have been tested in all patients: M694V, M680I, M694I, V726A, and E148Q. Results: There were 1719 FMF patients with available genetic testing. According to the genotyping, homozygous M694V, present in 413 patients (24%), was the most common mutation . One hundred and fifty-four (9%) of patients had no detectable mutations. Allele frequencies of common mutations were: M694V (n = 1529, 44.5%), M680I (n = 423, 12.3%), V726A (n = 315, 9.2%), E148Q (n = 214, 1%), and M694I (n = 12
- Published
- 2019
34. Exon 2: Is it the good police in familial mediterranean fever?
- Author
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Bilge, Nazife Şule Yaşar, Solmaz, Dilek, Şenel, Soner, Emmungil, Hakan, Kılıç, Levent, Beş, Cemal, BAİBÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, and Beş, Cemal
- Subjects
Exon 10 ,E148Q ,Exon 2 ,M694V ,Familial Mediterranean Fever - Abstract
Objective: Familial Mediterranean fever (FMF) is the most common autoinflammatory disease. Most of the identified disease-causing mutations are located on exon 10. As the number of studies about the effect of the exonal location of the mutation and its phenotypic expression is limited, we aimed to investigate whether the exonic location of the Mediterranean fever (MEFV) mutation has an effect on the clinical manifestation in patients with FMF. Methods: Study population was derived from the main FMF registry that included 2246 patients from 15 different rheumatology clinics. We categorized the mutations according to their exon locations and retrieved the clinical and demographic information from the database. Results: Patients having the MEFV mutations on exon 2 or 10 (n:1526) were divided into three sub- groups according to the location of the MEFV mutations: Group 1 (exon 2 mutations), Group 2 (exon 10 mutations), and Group 3 (both exon 2 and exon 10 mutations). Group 2 patients were of a signifi- cantly younger age at onset, and erysipel-like erythema, arthritis, amyloidosis, and a family history of FMF were more common in this group. Conclusion: Patients with FMF and exon 10 mutations show more severe clinical symptoms and out- come. Exon 2 mutations tend to have a better outcome.
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- 2019
35. Comparison of early versus late onset familial Mediterranean fever
- Author
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Sedat Yilmaz, Yavuz Pehlivan, Servet Akar, Nazife Sule Yasar Bilge, Sema Yilmaz, Duygu Ersozlu Bozkirli, Sibel Yilmaz Oner, Ismail Sari, Eren Erken, Fezan Sahin, Mehmet Sayarlioglu, Cemal Bes, Kenan Aksu, Timuçin Kaşifoğlu, Umut Kalyoncu, Gozde Yildirim Cetin, Hakan Emmungil, Fatih Yildiz, Şükran Erten, M. Cinar, Dilek Solmaz, Haner Direskeneli, Veli Yazisiz, Müge Aydın Tufan, Emel Gönüllü, Soner Senel, Levent Kilic, and Çukurova Üniversitesi
- Subjects
Adult ,Male ,medicine.medical_specialty ,Delayed Diagnosis ,Time Factors ,Adolescent ,Turkey ,Familial Mediterranean fever ,Arthritis ,Late onset ,Disease ,M694V ,Severity of Illness Index ,03 medical and health sciences ,Young Adult ,0302 clinical medicine ,Rheumatology ,Mutation Rate ,Predictive Value of Tests ,Risk Factors ,Internal medicine ,medicine ,Humans ,Genetic Predisposition to Disease ,030212 general & internal medicine ,Registries ,Family history ,Age of Onset ,Sex Distribution ,Child ,Retrospective Studies ,030203 arthritis & rheumatology ,business.industry ,Amyloidosis ,Age at onset of disease ,Pyrin ,medicine.disease ,Familial Mediterranean Fever ,Phenotype ,Mutation ,Disease Progression ,Female ,Vasculitis ,business ,Early onset - Abstract
PubMedID: 29314707 Aim: Familial Mediterranean fever (FMF) is the most common autoinflammatory disease. One of the common characteristics of this disease is its young age predominance. Nearly 90% of patients experience disease flares during early adult age periods. Currently there are limited data for the comparison of early versus late onset FMF and therefore the primary aim of this study was to investigate these two subsets with regard to their certain demographic, clinical and genetic differences. Methods: Early (? 20 years, Group 1) and late (> 20 years, Group 2) onset FMF patients were identified from the national FMF registry that involves 2246 patients from 15 adult rheumatology clinics located in different geographical areas of Turkey. Results: Of the 2246 patients, 1633 (72.7%) were aged ? 20 years old (Group 1) and the remaining 613 were older than 20 years (Group 2). Delay in diagnosis was longer in Group 1 and fever, peritonitis, pleuritis, erysipelas- like erythema (ELE), arthritis, family history of FMF and amyloidosis were more common in Group 1. On the other hand, sex distribution, rates of amyloidosis, vasculitis and kidney failure were not different between the groups. Among patients with available genotypes, homozygous and heterozygous M694V mutations were significantly higher and heterozygous E148Q mutation was significantly lower in Group 1 compared to Group 2. Conclusion: Patients with FMF whose symptoms start before 20 years of age seem to have severe symptoms and M694V mutation may be responsible for the early expression of the disease. © 2018 Asia Pacific League of Associations for Rheumatology and John Wiley & Sons Australia, Ltd.
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- 2018
36. Amyloidosis and its related factors in turkish patients with familial mediterranean fever: A multicentre study
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Ismail Sari, Sibel Yilmaz Oner, Eren Erken, Yavuz Pehlivan, Şükran Erten, Kenan Aksu, Bunyamin Kisacik, Cemal Bes, Soner Senel, Hakan Emmungil, Müge Aydın Tufan, Levent Kilic, Mehmet Sayarlioglu, Timuçin Kaşifoğlu, Sema Yilmaz, Fezan Sahin, Fatih Yildiz, Sedat Yilmaz, Emel Gönüllü, Cengiz Korkmaz, Umut Kalyoncu, Gozde Yildirim Cetin, Duygu Bakirli, Haner Direskeneli, Veli Yazisiz, Şule Yaşar Bilge, Servet Akar, Tuncer Temel, Dilek Solmaz, Çukurova Üniversitesi, Ege Üniversitesi, Kasifoglu, Timucin, Bilge, Sule Yasar, Sari, Ismail, Solmaz, Dilek, Senel, Soner, Emmungil, Hakan, Kilic, Levent, Oner, Sibel Yilmaz, Yildiz, Fatih, Yilmaz, Sedat, Bakirli, Duygu Ersozlu, Tufan, Muge Aydin, Yilmaz, Sema, Yazisiz, Veli, Pehlivan, Yavuz, Bes, Cemal, Cetin, Gozde Yildirim, Erten, Sukran, Gonullu, Emel, Temel, Tuncer, Sahin, Fezan, Akar, Servet, Aksu, Kenan, Kalyoncu, Umut, Direskeneli, Haner, Erken, Eren, Kisacik, Bunyamin, Sayarlioglu, Mehmet, Korkmaz, Cengiz, İç Hastalıkları, and BAİBÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü
- Subjects
Adult ,Male ,medicine.medical_specialty ,Delayed Diagnosis ,PROGNOSIS ,Turkey ,MEFV ,Peritonitis ,Familial Mediterranean fever ,Disease ,M694V ,Young Adult ,Sex Factors ,FMF ,Rheumatology ,Risk Factors ,RISK-FACTOR ,Internal medicine ,Genotype ,medicine ,Prevalence ,Humans ,Pharmacology (medical) ,Family history ,Retrospective Studies ,Genetic testing ,medicine.diagnostic_test ,business.industry ,Arthritis ,Amyloidosis ,Medical record ,Homozygote ,Middle Aged ,Pyrin ,medicine.disease ,GENE ,Familial Mediterranean Fever ,GENOTYPE ,Surgery ,Cytoskeletal Proteins ,Kidney Failure, Chronic ,Female ,business - Abstract
WOS: 000333263500025, PubMed ID: 24369413, Methods. Fifteen centres from the different geographical regions of Turkey were included in the study. Detailed demographic and medical data based on a structured questionnaire and medical records were collected. The diagnosis of amyloidosis was based on histological proof of congophilic fibrillar deposits in tissue biopsy specimens. Results. There were 2246 FMF patients. The male/female ratio was 0.87 (1049/1197). The mean age of the patients was 34.5 years (s.d. 11.9). Peritonitis was the most frequent clinical finding and it was present in 94.6% of patients. Genetic testing was available in 1719 patients (76.5%). The most frequently observed genotype was homozygous M694V mutation, which was present in 413 (24%) patients. Amyloidosis was present in 193 patients (8.6%). Male sex, arthritis, delay in diagnosis, M694V genotype, patients with end-stage renal disease (ESRD) and family history of amyloidosis and ESRD were significantly more prevalent in patients with amyloidosis compared with the amyloidosis-negative subjects. Patients with homozygous M694V mutations had a 6-fold higher risk of amyloidosis compared with the other genotypes (95% CI 4.29, 8.7, P < 0.001). Conclusion. In this nationwide study we found that 8.6% of our FMF patients had amyloidosis and homozygosity for M694V was the most common mutation in these patients. The latter finding confirms the association of homozygous M694V mutation with amyloidosis in Turkish FMF patients.
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- 2014
37. Familial mediterranean fever, polyarteritis nodosa and Mefv mutations
- Author
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Tekin Akpolat, Ozan Ozkaya, Seza Ozen, and Ondokuz Mayıs Üniversitesi
- Subjects
Renal involvement ,Polyarteritis nodosa ,business.industry ,Urology ,MEFV ,Familial Mediterranean fever ,Inflammation ,Disease ,medicine.disease ,M694V ,Severe inflammation ,Immunology ,medicine ,Familial mediterranean fever ,Surgery ,In patient ,medicine.symptom ,business - Abstract
OBJECTIVE: The aim of this study was to perform a systematic review of the relevant literature aiming to assess the role of MEFV mutations on FMF-associated PAN. MATERIAL and METHODS: We conducted a comprehensive review of the literature with an attempt to analyze cumulated data regarding the role of MEFV mutations in the development of FMFassociated PAN. RESULTS: We found a total of 96 cases with FMF and PAN. MEFV mutations were available only in 28 patients of whom 26 have been reported from Turkey. Twenty-five (89 %) of the 28 patients had at least one M694V allele and 13 (46%) of them had the homozygous M694V genotype. CONCLUSION: Since M694V is accepted to be associated with more severe inflammation as compared to other mutations, one can speculate that this enhanced inflammation may predispose to PAN and MEFV mutations and probably contribute to the risk of developing PAN in areas where FMF is endemic. In addition, MEFV mutations, particularly M694V, might be searched in patients from certain ethnic groups, especially in young patients having PAN without any predisposing disease.
- Published
- 2013
38. Phenotype-genotype updates from familial Mediterranean fever database registry of Mansoura University Children′ Hospital, Mansoura, Egypt
- Author
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Dina Abdel-Hady, Rasha Al-Kenawy, Sohier Yahia, Afaf Al-Saied, Rabab Abo-El-Kasem, and Mohammad Al-Haggar
- Subjects
medicine.medical_specialty ,Abdominal pain ,medicine.diagnostic_test ,business.industry ,Amyloidosis ,Arthritis ,Familial Mediterranean fever ,Disease ,medicine.disease ,MEFV ,M694V ,Mediterranean fever gene ,familial Mediterranean fever ,Internal medicine ,Genetics ,medicine ,Original Article ,Renal biopsy ,Allele ,medicine.symptom ,business ,Genetics (clinical) - Abstract
BACKGROUND: Familial Mediterranean fever (FMF) is autosomal recessive disease that affects people from Mediterranean region, Europe and Japan. Its gene (Mediterranean fever [MEFV]) has more than 100 mostly non-sense mutations. OBJECTIVES: The objective of the following study is to provide some phenotype-genotype correlates in FMF by categorizing the Egyptian FMF cases from Delta governorates after analysis of the four most common mutations of MEFV gene (M680I, M694I, M694V, V726A). SUBJECTS AND METHODS: Clinically, suspected FMF cases using Tel-Hashomer criteria were enrolled in the study. Cases were referred to Mansoura University Children's Hospital that serves most of the most middle Delta governorates, in the period from 2006 to 2011. Subjects included 282 males and 144 females, mean age of onset 9.3 ± 2.2 years. All cases were analyzed for these mutations using amplification refractory mutation system based on the polymerase chain reaction technique. Five FMF patients agreed to undergo renal biopsy to check for development of amyloidosis. Analysis of data was carried out using SPSS (SPSS, Inc., Chicago, IL, USA). RESULTS: Mutation was found in 521 out of 852 studies alleles, the most frequent is M694V (35.4%) followed by M694I, V726A and M680I. 11 cases were homozygous; 7 M694V, 3 M680I and only one M694I case. Severe abdominal pain occurred in 31 (7.28%) but severe arthritis in 103 cases (24.2%). Strong association was found between arthritis and homozygous mutant compared with single and double heterozygous (72.7% vs. 33.3% and 20.24%, P < 0.001). Four amyloid cases were M694V positive. CONCLUSION: M694V allele is the most common among Egyptian FMF especially those with amyloidosis. We recommend routine check for amyloidosis in FMF cases to statistically validate this link.
- Published
- 2014
39. Incomplete attack and protracted sacroiliitis: an unusual manifestation of FMF in a child.
- Author
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Eifan, Aarif O., Ozdemir, Cevdet, Aydogen, Metin, Gocmen, Izlem, Bahceciler, Nerin N., Barlan, Isil B., and Aydogan, Metin
- Subjects
- *
FAMILIAL Mediterranean fever , *ABDOMINAL pain in children , *BACKACHE , *SYMPTOMS , *GENETIC mutation , *DIAGNOSIS - Abstract
This article presents the case a Turkish girl with familial Mediterranean fever in whom the protracted sacroiliitis was the dominant clinical feature with incomplete abdominal attacks. The patient showed symptoms such as recurrent abdominal and low back pain. Molecular analysis showed a homozygous M694V mutation in the Mediterranean fever gene.
- Published
- 2007
- Full Text
- View/download PDF
40. Comment on the article by Durmus et al. “Clinical significance of MEFV mutations in ankylosing spondylitis”
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Akkoc, Nurullah and Gul, Ahmet
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- 2010
- Full Text
- View/download PDF
41. Correspondance concernant l’article de Durmus et al. « Clinical significance of MEFV mutations in ankylosing spondylitis »
- Author
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Akkoc, Nurullah and Gul, Ahmet
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- 2010
- Full Text
- View/download PDF
42. Phenotype-genotype updates from familial Mediterranean fever database registry of Mansoura University Children' Hospital, Mansoura, Egypt.
- Author
-
Al-Haggar MS, Yahia S, Abdel-Hady D, Al-Saied A, Al-Kenawy R, and Abo-El-Kasem R
- Abstract
Background: Familial Mediterranean fever (FMF) is autosomal recessive disease that affects people from Mediterranean region, Europe and Japan. Its gene (Mediterranean fever [MEFV]) has more than 100 mostly non-sense mutations., Objectives: The objective of the following study is to provide some phenotype-genotype correlates in FMF by categorizing the Egyptian FMF cases from Delta governorates after analysis of the four most common mutations of MEFV gene (M680I, M694I, M694V, V726A)., Subjects and Methods: Clinically, suspected FMF cases using Tel-Hashomer criteria were enrolled in the study. Cases were referred to Mansoura University Children's Hospital that serves most of the most middle Delta governorates, in the period from 2006 to 2011. Subjects included 282 males and 144 females, mean age of onset 9.3 ± 2.2 years. All cases were analyzed for these mutations using amplification refractory mutation system based on the polymerase chain reaction technique. Five FMF patients agreed to undergo renal biopsy to check for development of amyloidosis. Analysis of data was carried out using SPSS (SPSS, Inc., Chicago, IL, USA)., Results: Mutation was found in 521 out of 852 studies alleles, the most frequent is M694V (35.4%) followed by M694I, V726A and M680I. 11 cases were homozygous; 7 M694V, 3 M680I and only one M694I case. Severe abdominal pain occurred in 31 (7.28%) but severe arthritis in 103 cases (24.2%). Strong association was found between arthritis and homozygous mutant compared with single and double heterozygous (72.7% vs. 33.3% and 20.24%, P < 0.001). Four amyloid cases were M694V positive., Conclusion: M694V allele is the most common among Egyptian FMF especially those with amyloidosis. We recommend routine check for amyloidosis in FMF cases to statistically validate this link.
- Published
- 2014
- Full Text
- View/download PDF
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