Article
Immunology
Emire Seyahi, Serdal Ugurlu, Shirkhan Amikishiyev, Ahmet Gul
Summary: Behget disease (BD) and familial Mediterranean fever (FMF) are two inflammatory disorders that have common features and may occur in the same individual more commonly than expected. The pathogenic MEFV gene variants, especially p.Met694Val, have been shown to increase the risk for BD in regions where both FMF and BD are prevalent. Further exploration is needed to determine the association between these variants and specific disease subtypes, as well as their potential role in treatment planning. This review provides an overview of the plausible association between FMF and BD and the role of MEFV variants in the pathogenesis of BD.
CLINICAL IMMUNOLOGY
(2023)
Review
Rheumatology
Seza Ozen
Summary: Recent studies have revealed new insights into the pathogenesis of familial Mediterranean fever, including genetic mutations conferring resistance to ancient microbial pathogens and recommendations for genetic analysis of FMF. We now have recommendations for assessing genetic analysis of the MEFV gene and how to reliably classify a patient as FMF.
CURRENT OPINION IN RHEUMATOLOGY
(2021)
Article
Medicine, General & Internal
Shuhei Yoshida, Yuya Sumichika, Kenji Saito, Haruki Matsumoto, Jumpei Temmoku, Yuya Fujita, Naoki Matsuoka, Tomoyuki Asano, Shuzo Sato, Kiyoshi Migita
Summary: This study investigated the clinical features and treatment response of Japanese patients with FMF. It found that colchicine was effective in the majority of patients, but some patients showed resistance to colchicine. Canakinumab showed good efficacy in colchicine-resistant patients.
JOURNAL OF CLINICAL MEDICINE
(2023)
Review
Rheumatology
Cengiz Korkmaz, Dondu Uskudar Cansu, Sibel Canbaz Kabay
Summary: Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disease characterized by fever and serositis attacks caused by mutations in the MEditerranean FeVer (MEFV) gene encoding the pyrin gene. FMF patients are more likely to develop inflammatory diseases such as Behcet's disease, psoriasis, and vasculitis, as well as multiple sclerosis. The coexistence of FMF and demyelinating disorders in multiple family members is rare, with only a few reported cases.
RHEUMATOLOGY INTERNATIONAL
(2022)
Article
Rheumatology
Flora Magnotti, Tiphaine Malsot, Sophie Georgin-lavialle, Fatima Abbas, Amandine Martin, Alexandre Belot, Maxime Fauter, Muriel Rabilloud, Mathieu Gerfaud-Valentin, Pascal Seve, Agnes Duquesne, Arnaud Hot, Stephane Durupt, Lea Savey, Irina Giurgea, Gilles Grateau, Thomas Henry, Yvan Jamilloux
Summary: In the study, monitoring inflammasome activation in response to UCN-01 was found to differentiate FMF patients from healthy donors and patients with other inflammatory disorders. Combining pyroptosis and IL-1 beta measurement increased the sensitivity and specificity of UCN-01-based assays for accurate FMF diagnosis. The UCN-01-triggered monocyte responses were influenced by MEFV gene dosage and mutations, similarly to clinical phenotypes.
ANNALS OF THE RHEUMATIC DISEASES
(2021)
Article
Medicine, General & Internal
Yusuf Atabay, Zeynep Altin, Ayfer Colak, Harun Akar
Summary: This study aims to evaluate the levels of ischemia modified albumin (IMA) as a predictor of cardiovascular risk factors in Familial Mediterranean Fever (FMF) patients during the attack-free period and the relationship between IMA and inflammation markers. The results showed that IMA levels were significantly higher in FMF patients with positive correlations to ESR, LDL, total cholesterol, triglyceride, CRP, and fibrinogen. In AS patients, there were positive correlations between IMA and ESR, CRP.
Conclusion: IMA can be used as a predictor for cardiovascular risk factors and is a valuable marker for inflammation.
IRISH JOURNAL OF MEDICAL SCIENCE
(2023)
Review
Medicine, General & Internal
Okan Aydin, Bugra Han Egeli, Huri Ozdogan, Serdal Ugurlu
Summary: Familial Mediterranean fever (FMF) is a hereditary disease characterized by recurrent fever and serositis attacks. This study found that approximately 2% of patients develop the disease after the age of 40, and these patients experience a milder form of the disease.
INTERNAL AND EMERGENCY MEDICINE
(2022)
Article
Dermatology
Hayakazu Sumida, Kiyoshi Migita, Hiroaki Ida, Yoshihide Asano, Jun Shimizu, Shinji Kagami, Makoto Sugaya, Takafumi Kadono, Shinichi Sato
Summary: This case report describes a female patient presenting with a variety of symptoms, including periodic fever, migratory myalgia, and dermatitis, ultimately diagnosed as a variant of FMF. Genetic testing revealed novel compound heterozygous mutations in the MEFV gene, providing insight into the pathogenesis of her condition and supporting the diagnosis.
JOURNAL OF DERMATOLOGY
(2021)
Article
Rheumatology
Ezgi Deniz Batu, Ozge Basaran, Yelda Bilginer, Seza Ozen
Summary: The purpose of this review is to provide an updated approach to diagnose and manage patients with FMF. Recent findings have shown that FMF, the most common monogenic autoinflammatory disease and prototype of monogenic autoinflammatory recurrent fever syndrome, is more complex than previously thought. The interpretation of genetic test results is crucial for timely diagnosis, appropriate treatment, and follow-up of FMF patients. Here, a roadmap is proposed to help clinicians in making decisions regarding diagnosis, treatment, and follow-up for FMF patients with different genotype-phenotype combinations.
CURRENT RHEUMATOLOGY REPORTS
(2022)
Article
Rheumatology
M. Kocabey, T. Cankaya, M. T. Bayram, A. Ulgenalp, A. O. Caglayan, O. Giray Bozkaya
Summary: This study aimed to uncover rare variants that may interact with a single pathogenic MEFV variant in the pathogenesis of FMF. Whole exome sequencing of individuals from 5 different families with diagnosed FMF but lacking biallelic MEFV mutations revealed de novo variants in the BIRC2 and BCL10 genes, which play a role in inflammatory pathways. Functional studies are needed to confirm the relationship between these genes and FMF.
CLINICAL AND EXPERIMENTAL RHEUMATOLOGY
(2023)
Article
Medicine, General & Internal
Necati Cakir, Hulya Azakli, Duran Ustek, Omer Uysal, Eren Gozke
Summary: The frequencies of the most common MEFV mutations in the Havsa population of European Turkey are lower compared to high-prevalence FMF regions in Turkey. The positivity of MEFV gene mutation tests may have lower predictive value in populations with low FMF prevalence.
TURKISH JOURNAL OF MEDICAL SCIENCES
(2021)
Article
Pediatrics
Mehmet Yildiz, Amra Adrovic, Ipek Ulkersoy, Neslihan Gucuyener, Oya Koker, Sezgin Sahin, Fatih Haslak, Kenan Barut, Ozgur Kasapcopur
Summary: The study found that having MEFV variants in patients with PFAPA syndrome is associated with later disease onset and shorter episode duration.
EUROPEAN JOURNAL OF PEDIATRICS
(2021)
Article
Medicine, General & Internal
Amirreza Khalaji, Mehdi Jafarpour
Summary: The association of familial Mediterranean fever (FMF) and ankylosing spondylitis (AS) is rare, but it is important to consider this diagnosis in patients with a history of FMF who develop symptoms of back pain or other rheumatologic conditions.
CLINICAL CASE REPORTS
(2023)
Article
Pediatrics
Oren Biro, Alex Gileles-Hillel, Talia Dor-Wollman, Eli M. Eisenstein, Yackov Berkun
Summary: The study found a higher prevalence of ADHD, learning disabilities, headaches, and febrile seizures in children with FMF. Headaches and febrile seizures were significantly more common in children with FMF compared to their siblings. ADHD and learning disabilities were associated with poor adherence to colchicine treatment. Overall, it highlights the importance of addressing neurodevelopmental aspects in children with FMF for better disease management.
EUROPEAN JOURNAL OF PEDIATRICS
(2022)
Article
Rheumatology
Yonatan Butbul Aviel, Silman Rawan, Shafe Fahoum, Isaiah Wexler, Yackov Berkun
Summary: This study described a group of pediatric patients with FMF who discontinued colchicine therapy following a relatively long attack-free period, with a longer attack-free period prior to discontinuation predicting success; patients with arthritis or myalgia prior to cessation were more likely to have an attack after stopping colchicine therapy.
JOURNAL OF RHEUMATOLOGY
(2021)
Article
Rheumatology
Gulen Hatemi, Alexa Meara, Yesim Ozguler, Haner Direskeneli, Alfred Mahr, Beverly Shea, Esen Cam, Ahmet Gul, Yusuf Yazici, Peter Tugwell, Hasan Yazici, Peter A. Merkel
Summary: There is a need for reliable and widely-accepted outcome measures in randomized clinical trials for Behcet's syndrome. The Outcome Measures in Rheumatology (OMERACT) Behcet's Syndrome Working Group developed a core set of data-driven outcome measures through a comprehensive, iterative, and multistage project. The final core set includes 5 mandatory domains for all trials in Behcet's syndrome, as well as additional subdomains for specific organ-systems. The core set provides a foundation for harmonizing research and advancing effective therapies.
ARTHRITIS CARE & RESEARCH
(2022)
Article
Rheumatology
Lutfi Akyol, Bahtiyar Toz, Ozun Bayindir, Orhan Zengin, DonduUskudar Cansu, Murat Yigit, Gozde Yildirim Cetin, Ahmet Omma, Abdulsamet Erden, Orhan Kucuksahin, Mehmet Sakir Altuner, BurcinSeyda Corba, Ali Ugur Unal, Hamit Kucuk, Adem Kucuk, Ayse Balkarli, Emel Gonullu, Ayse Nur Tufan, Sibel Bakirci, Sibel Yilmaz Oner, Mehmet Ali Balci, Senol Kobak, Ayten Yazici, Metin Ozgen, Ali Sahin, Suleyman Serdar Koca, Burak Erer, Ahmet Gul, Kenan Aksu, Gokhan Keser, Ahmet Mesut Onat, Bunyamin Kisacik, Timucin Kasifoglu, Ayse Cefle, Umut Kalyoncu, Mehmet Sayarlioglu
Summary: This study compared the clinical features, laboratory findings, and prognosis of Behcet’s disease (BD) patients with and without Budd-Chiari syndrome (BCS). Patients with BCS had earlier disease onset and diagnosis, higher frequency of inferior vena cava (IVC) thrombosis, and higher mortality rate compared to those without BCS. Mortality was significantly higher in BD-BCS patients with IVC thrombosis than in the controls.
CLINICAL RHEUMATOLOGY
(2022)
Meeting Abstract
Rheumatology
M. Oztas, M. Bektas, I. Karacan, N. Aliyeva, A. Dag, S. Aghamuradov, S. B. Cevirgen, S. Sari, M. Bolayirli, G. Can, G. Hatemi, E. Seyahi, H. Ozdogan, A. Gul, S. Ugurlu
ANNALS OF THE RHEUMATIC DISEASES
(2022)
Article
Immunology
Nilgun Sallakci, Ilhan Tahrali, Umut Can Kucuksezer, Esin Aktas Cetin, Ahmet Gul, Gunnur Deniz
Summary: This study investigated the activation status and function of NK cells in Behcet's disease patients. The results showed that patients in active and inactive phases displayed different activation levels of NK cells, indicating their potential association with immune attacks and remissions during the course of the disease.
IMMUNOLOGIC RESEARCH
(2022)
Article
Rheumatology
Ege Sinan Torun, Erdem Bektas, Fatih Kemik, Murat Bektas, Cigdem Cetin, Yasemin Yalcinkaya, Bahar Artim Esen, Ahmet Gul, Murat Inanc
Summary: This study compared the performances of three SLE classification criteria sets in a large cohort of patients and relevant diseased controls. The results showed that EULAR/ACR criteria were more sensitive than the 1997 criteria and had a comparable performance with SLICC criteria. The presence of false positive results in ANA positive patients decreased the specificity of both SLICC and EULAR/ACR criteria.
Article
Rheumatology
Rabia Deniz, Zeliha Emrence, Yasemin Yalcinkaya, Bahar Artim Esen, Murat Inanc, Mahdume Lale Ocal, Ahmet Gul
Summary: The skin pathergy test (SPT) conducted using a 20G needle prick and PS-23 antigens has been shown to have improved sensitivity in the diagnosis of Behcet disease (BD). This method can increase the diagnostic rate of BD, especially in patients with active disease.
Letter
Immunology
Ahmet Gul, Recep Ozturk
SCANDINAVIAN JOURNAL OF IMMUNOLOGY
(2022)
Article
Immunology
Metin Yusuf Gelmez, Fatma Betul Oktelik, Ilhan Tahrali, Vuslat Yilmaz, Umut Can Kucuksezer, Nilgun Akdeniz, Esin Aktas Cetin, Murat Kose, Cigdem Cinar, Fatma Savran Oguz, Sevgi Besisik, Kaya Koksalan, Ozkan Ozdemir, Naci Senkal, Ahmet Gul, Erdem Tuzun, Gunnur Deniz
Summary: This study investigates the alterations in immune responses related to COVID-19. The results reveal significant changes in immune responses due to SARS-CoV-2 infection, with differential modulation of innate and adaptive immunity based on disease severity. Severe patients exhibit decreased NK cells and CD3(+) T cells, as well as elevated plasmablasts, antibody levels, and pro-inflammatory cytokines. These findings have important implications for understanding the immune mechanisms of COVID-19 and guiding disease treatment.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Rheumatology
Shirkhan Amikishiyev, M. Guven Gunver, Murat Bektas, Sarvan Aghamuradov, Burak Ince, Nevzat Koca, Ege Sinan Torun, Numune Aliyeva, Selma Sari, Cigdem Cetin, Banu C. Yalcin-Dulundu, Rabia Deniz, Fatih Kemik, Besim Fazil Agargun, Ubeyde Ayse Gulseren, Beliz Besisik, Onur Alkan, Ceren Bagriacik, Yavuz B. Tor, Naci Senkal, Yunus Catma, Gorkem Durak, Sevim Mese, Ali Agacfidan, Murat Kose, Mustafa Erelel, A. Atahan Cagatay, Serap Simsek-Yavuz, Sevgi Kalayoglu-Besisik, Figen Esen, Ahmet Guel
Summary: This study aimed to identify criteria for early detection of hyperinflammation (HI) in patients with COVID-19, and found a 12-item criteria that showed high sensitivity and specificity. The use of these criteria can help identify patients in need of treatment earlier and initiate timely interventions.
ARTHRITIS & RHEUMATOLOGY
(2023)
Article
Chemistry, Medicinal
Ozge Soylu-Eter, Zekiye Seyma Sevincli, Betul Ersoy, Bahar Hasanusta, Ugur Gatfar, Nathan A. Lack, Burak Erman, Ahmet Gul, Hakan S. Orer, Nilgun Karali
Summary: This study aimed to develop drugs with anti-interleukin-1 activity. Through evaluation and screening of compounds, as well as in vitro studies and molecular modeling, it was found that compounds 78 and 81 had the strongest IL-1 receptor inhibitory effects and the most favorable drug-like properties.
ARCHIV DER PHARMAZIE
(2023)
Article
Rheumatology
Murat Bektas, Nevzat Koca, Emin Oguz, Selma Sari, Gizem Dagci, Burak Ince, Pelin Karaca Ozer, Besim Fazil Agargun, Yasemin Yalcinkaya, Bahar Artim-Esen, Lale Ocal, Murat Inanc, Ahmet Gul
Summary: This study evaluated the clinical, laboratory, and genetic characteristics of patients with AA amyloidosis in Turkey. It found that FMF is the most common cause of AA amyloidosis and patients with homozygous or compound heterozygous MEFV exon 10 variants tend to develop the disease earlier. Patients with a low estimated glomerular filtration rate at admission had a higher risk of progressing to end-stage renal disease. The study also found that the mortality rate increased with the amyloid burden.
Article
Medicine, General & Internal
Ege Sinan Torun, Mert Erciyestepe, Yasemin Yalcinkaya, Ahmet Gul, Murat Inanc, Lale Ocal, Sabahattin Kaymakoglu, Bora Peynircioglu, Bahar Artim-Esen
Summary: Budd-Chiari syndrome is a disease characterized by obstruction of hepatic venous outflow, with etiologies such as hypercoagulable states. Interventional radiology procedures like TIPS can be used to reduce portal hypertension and improve complications in BCS patients.
CLINICAL MEDICINE INSIGHTS-CASE REPORTS
(2022)
Meeting Abstract
Transplantation
Safak Mirioglu, Suzan Cinar, Omer Uludag, Erdem Gurel, Sibel Varelci, Yasemin Ozluk, Isin Kilicaslan, Yasemin Yalcinkaya, Halil Yazici, Ahmet Gul, Murat Inanc, Bahar Artim-Esen
NEPHROLOGY DIALYSIS TRANSPLANTATION
(2022)
Article
Medicine, General & Internal
Ozlem Pehlivan, Yasemin Yalcinkaya, Bahar Artim Esen, Nihat Huseyinsinoglu, Ahmet Gul, Murat Inanc, M. Lale Ocal
Summary: Our study showed that smoking, especially heavy smoking, has a negative effect in every phase of axSpA. Smoking intensity may correlate with reduced response to TNFi.
JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI
(2022)
Article
Medicine, General & Internal
Naci Senkal, Esen Kiyan, Ali Aslan Demir, Yasemin Yalcinkaya, Ahmet Gul, Murat Inanc, Mahmude Lale Ocal, Bahar Artim Esen
Summary: This study found a high prevalence of interstitial lung disease (ILD) in patients with systemic lupus erythematosus (SLE). Spirometry, diffusion tests, and chest x-ray were valuable tools for diagnosing ILD in SLE patients. Patients with ILD had longer disease duration, lower lung function, and higher frequency of other symptoms and diseases.
TURKISH JOURNAL OF MEDICAL SCIENCES
(2022)
