Article
Rheumatology
Hakan Babaoglu, Berkan Armagan, Erdal Bodakci, Hasan Satis, Nuh Atas, Alper Sari, Nazife Sule Yasar Bilge, Reyhan Bilici Salman, Gozde Kubra Yardimci, Aslihan Avanoglu Guler, Hazan Karadeniz, Levent Kilic, Mehmet Akif Ozturk, Berna Goker, Seminur Haznedaroglu, Umut Kalyoncu, Timucin Kasifoglu, Abdurrahman Tufan
Summary: This study identified predictors of persistent inflammation in adult FMF patients for the first time, and found that persistent inflammation is a major cause of insidious damage. Male gender, lower education levels, and the presence of other inflammatory comorbidities were found to be more likely to lead to persistent inflammation.
Article
Cardiac & Cardiovascular Systems
Omer Gendelman, Ariel J. Feifel, Avishai M. Tsur, Doron Comanhester, Arnon D. Cohen, Howard Amital
Summary: This study found an association between Familial Mediterranean Fever (FMF) and venous thromboembolism (VTE). FMF patients had a higher risk of VTE, which may be due to the chronic inflammatory state. Physicians should be aware of this association and take measures to control the unbalanced disease.
JOURNAL OF THROMBOSIS AND THROMBOLYSIS
(2022)
Review
Biochemistry & Molecular Biology
Maddalena Lancieri, Marta Bustaffa, Serena Palmeri, Ignazia Prigione, Federica Penco, Riccardo Papa, Stefano Volpi, Roberta Caorsi, Marco Gattorno
Summary: This study provides an updated overview on the main aspects of pathophysiology, genetics, diagnosis, and treatment resistance of Familial Mediterranean Fever (FMF), a prototypal autoinflammatory disease. It also emphasizes the importance of FMF in understanding the functioning of the innate immune system.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Nutrition & Dietetics
Pasquale Mansueto, Aurelio Seidita, Marta Chiavetta, Dario Genovese, Alessandra Giuliano, Walter Priano, Antonio Carroccio, Alessandra Casuccio, Emanuele Amodio
Summary: This narrative review analyzed the correlation between diet and clinical outcomes of familial Mediterranean fever (FMF). Conflicting results were found regarding the association between high-fat and high-salt food intake and FMF attack recurrence. Wheat was suggested to potentially play a role in FMF. A diet rich in antioxidants and anti-inflammatory supplements may partly reduce symptoms and improve the well-being of FMF patients. However, further studies are needed to clarify the impact of diet on FMF symptom triggering.
Article
Pediatrics
Elif Kilic Konte, Fatih Haslak, Mehmet Yildiz, Neslihan Gucuyener, Ipek Ulkersoy, Aybuke Gunalp, Esma Aslan, Amra Adrovic, Sezgin Sahin, Kenan Barut, Ozgur Kasapcopur
Summary: This study aimed to investigate the demographic and clinical characteristics of children with both FMF and PFAPA syndromes and their response to colchicine and tonsillectomy. The results showed that patients with tonsillopharyngitis, aphthous stomatitis, and PFAPA family history were more likely to be colchicine-resistant and tonsillectomy responsive, while those with exon 10 MEFV gene mutations were more prone to have a favorable response to colchicine.
EUROPEAN JOURNAL OF PEDIATRICS
(2023)
Article
Genetics & Heredity
Eugenio Sangiorgi, Alessia Azzara, Roberto Rumore, Ilaria Cassano, Elena Verrecchia, Luciano Giaco, Maria Alessandra Tullio, Fiorella Gurrieri, Raffaele Manna
Summary: Periodic fever syndromes are autoinflammatory disorders characterized by recurrent fevers and inflammation without T or B cell involvement. The genetic basis of many of these disorders is complex, with only a few having a known monogenic origin. Current molecular diagnostic tests for these disorders have limited success rates, and it is thought that other genetic factors may be responsible for the remaining cases. This study performed exome sequencing on familial cases of periodic fever syndromes and identified potential candidate genes that may play a role in the pathogenesis of these disorders.
Article
Rheumatology
Yoel Levinsky, Liat Azani, Vered Shkalim Zemer, Gabriel Chodick, Rotem Tal, Liora Harel, Gil Amarilyo
Summary: This study aimed to compare the adherence to colchicine between FMF patients treated with IL-1 inhibitors and FMF patients treated only with colchicine. The results showed that both groups had poor adherence to colchicine, highlighting the importance of patient and caregiver education.
SEMINARS IN ARTHRITIS AND RHEUMATISM
(2023)
Article
Rheumatology
Avishai M. Tsur, Abdulla Watad, Omer Gendelman, Daniel Nissan, Arnon D. Cohen, Howard Amital
Summary: The study found a positive association between FMF and asthma through a cross-sectional study. Further research is needed to validate and explore possible explanations for this association. These findings challenge previous studies that suggested FMF as a protective factor against asthma.
Article
Medicine, General & Internal
Mustafa capraz, Muhammed Emin Duz
Summary: This study examines the genotypes of FMF patients from Amasya, Turkey, and finds that the R202Q genotype is commonly observed. The study suggests that the R202Q genotype should be included in routine molecular screenings of patients and calls for functional studies of the R202Q variant pyrin protein.
IRISH JOURNAL OF MEDICAL SCIENCE
(2023)
Article
Medicine, General & Internal
Vikash Jaiswal, Zouina Sarfraz, Trissa Paul, Furqan Ahmad Jarullah, Christine Zakhary
Summary: This case report discusses a 12-year-old Egyptian boy with familial Mediterranean fever (MEFv) confirmed by genetic testing, despite the absence of fever as a symptom. Treatment with steroids and colchicine-salicylate has proven effective in reducing symptom frequency, although the risk-to-benefit ratio should be carefully considered. Further research is needed for better long-term treatment options, and the key takeaway is that fever is not a necessary symptom for diagnosing FMF.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2021)
Article
Rheumatology
Limor Marko, Asaf Shemer, Merav Lidar, Chagai Grossman, Amit Druyan, Avi Livneh, Shaye Kivity
Summary: Treatment with anakinra is beneficial for the majority of colchicine-resistant FMF patients and is relatively safe, as evidenced by a significant improvement in the Global Assessment Score. However, some patients experienced adverse effects such as hospitalizations and injection site reactions.
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
S. Ozen, H. L. Lutz, V. M. Rivera, A. Reiff, E. D. Batu, E. Anderson, M. Salas Garcia, G. Aldrovandi, T. H. Akbaba, I. Pazarbasi, Y. Bilginer, A. Balat, B. Balci-Peynircioglu, J. A. Gilbert, F. Dedeoglu, J. S. Hausmann
Summary: This study found significant differences in gut microbiota composition between children with FMF from Turkey and the USA, but this composition did not have a strong impact on disease severity. FMF patients and controls exhibited microbiota differences in different geographic regions, but gut microbiota composition was not a major influencing factor in the development of FMF.
CLINICAL AND EXPERIMENTAL RHEUMATOLOGY
(2021)
Article
Rheumatology
Pinar Ozge Avar-Aydin, Zeynep Birsin Ozcakar, Fatma Aydin, Hatice Dilara Karakas, Nilgun Cakar, Fatos Yalcinkaya
Summary: This retrospective study evaluated the characteristics of patients with arthritis in a large pediatric cohort of FMF patients. The study found that arthritis in FMF is mainly associated with M694V mutations, and the frequency of protracted arthritis has declined while sacroiliitis of FMF and arthritis of associated diseases expand the spectrum of arthritis.
CLINICAL RHEUMATOLOGY
(2022)
Review
Immunology
Tomohiro Koga, Atsushi Kawakami
Summary: IL-6 plays an important role in autoinflammatory diseases and is considered a promising therapeutic target.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Multidisciplinary Sciences
Yeliz Z. Akkaya-Ulum, Tayfun Hilmi Akbaba, Zeynep Tavukcuoglu, Jae Jin Chae, Engin Yilmaz, Seza Ozen, Banu Balci-Peynircioglu
Summary: Familial Mediterranean fever (FMF) is an autosomal recessively inherited autoinflammatory disease caused by mutations in the MEFV gene. Recent studies suggest that non-coding RNAs, particularly miRNAs, may play a role in the pathogenesis of autoinflammation. Research on miR-197-3p in FMF patients shows its potential anti-inflammatory effect, indicating a possible role in personalized medicine for autoinflammatory diseases.
SCIENTIFIC REPORTS
(2021)
Review
Biology
Tayfun Hilmi Akbaba, Can Ebru Bekircan-Kurt, Banu Balci-Peynircioglu, Burcu Balci-Hayta
Summary: The use of 3D cell cultures and organoid approach is increasingly important in disease research and drug discovery, reducing the reliance on animal experimentation and providing valuable data, especially for diseases where patient tissue is difficult to obtain.
Article
Pediatrics
Tayfun Hilmi Akbaba, Yeliz Z. Akkaya-Ulum, Selcan Demir, Seza Ozen, Banu Balci-Peynircioglu
Summary: The study found a positive correlation between active pyrin inflammasome and increased cell migration in FMF patients. Pyrin plays a significant role in inflammatory cell migration through inflammasome formation.
PEDIATRIC RESEARCH
(2022)
Article
Cardiac & Cardiovascular Systems
Zeynep Ucar, Tayfun Hilmi Akbaba, Ayse Tulay Aydinoglu, Sevgen Celik Onder, Banu Balci-Peynircioglu, Metin Demircin, Burcu Balci-Hayta
Summary: This study evaluated the mitochondrial morphology and function in pediatric patients with cyanotic and acyanotic congenital heart disease (CHD). The results showed abnormal mitochondrial network and reduced ATP production in patients with cyanotic CHD, and a significant correlation between mitochondrial dysfunction and cardiac markers. These findings provide insights into the relationship between mitochondrial dysfunction and cyanotic CHD.
PEDIATRIC CARDIOLOGY
(2022)
Meeting Abstract
Rheumatology
M. Kiraci, E. Bilgin, E. Duran, B. Farisogullari, E. C. Bolek, G. K. Yardimci, Z. Ozsoy, G. Ayan, G. Sandal Uzun, T. H. Akbaba, B. B. Peynircioglu, O. Karadag, A. Akdogan, S. A. Bilgen, S. Kiraz, A. I. Ertenli, U. Kalyoncu, L. Kilic
ANNALS OF THE RHEUMATIC DISEASES
(2022)
Article
Rheumatology
M. Kiraci, E. Bilgin, E. Duran, B. Farisogullari, E. C. Bolek, G. K. Yardimci, Z. Ozsoy, G. Ayan, G. S. Uzun, T. H. Akbaba, B. Balci-Peynircioglu, O. Karadag, A. Akdogan, S. A. Bilgen, S. Kiraz, A. Ertenli, U. Kalyoncu, L. Kilic
Summary: Comparing the features of patients with familial Mediterranean fever (FMF) accompanying axial spondyloarthritis (axSpA) to patients with each condition alone, it was found that patients with FMF + axSpA had earlier onset of axSpA, more severe hip involvement, and higher prevalence of amyloidosis.
SCANDINAVIAN JOURNAL OF RHEUMATOLOGY
(2023)
Article
Rheumatology
Mehmet Akif Topcuoglu, Cansu Ayvacioglu-Cagan, Ethem Murat Arsava, Pinar Acar-Ozen, Umut Kalyoncu, Rahsan Gocmen, Tayfun Hilmi Akbaba, Banu Balci-Peynircioglu, Meryem Asli Tuncer
Summary: This study aimed to investigate the neurovascular involvement in patients with FMF. They found that the characteristics of ischemic stroke in FMF cases were different from those in the general population, especially in terms of infarct topography. The findings suggest a possible association between FMF genetic mutations and stroke phenotype.
INTERNATIONAL JOURNAL OF RHEUMATIC DISEASES
(2023)
Article
Genetics & Heredity
Tayfun Hilmi Akbaba, Yeliz Z. Akkaya-Ulum, Ezgi Deniz Batu, Federica Penco, Helmut Wittkowski, Benjamin Kant, Marielle E. van Gijn, Dirk Foell, Marco Gattorno, Seza Ozen, Banu Balci-Peynircioglu
Summary: This study aimed to investigate the effect of miR-30e-3p on the autoinflammation phenotype seen in systemic autoinflammatory disease (SAID) patients and its expression in European SAID patients. The results validated the previous microarray analysis and demonstrated that miR-30e-3p has an anti-inflammatory effect. It directly binds to interleukin-1-beta (IL-1 beta), reducing its RNA and protein levels.
JOURNAL OF MOLECULAR MEDICINE-JMM
(2023)
Article
Immunology
Bilgesu Safak Tuemerdem, Tayfun Hilmi Akbaba, Ezgi Deniz Batu, Yeliz Z. Akkaya-Ulum, Pelin Mutlu, Seza Ozen, Banu Balci-Peynircioglu
Summary: This study evaluates the role of miRNAs in colchicine resistant patients with FMF. Their differential expression may result in resistance to standard colchicine treatment by affecting the expression of genes that take place in drug metabolism and inflammation.
INTERNATIONAL IMMUNOPHARMACOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Zeynep Tavukcuoglu, Yeliz Z. Akkaya-Ulum, Nilgun Yersal, Utku Horzum, Tayfun Hilmi Akbaba, Omer Karadag, Gunes Esendagli, Petek Korkusuz, Seza Ozen, Banu Balci-Peynircioglu
Summary: This study analyzed the presence of miRNAs in serum extracellular vesicles (EVs) of familial Mediterranean fever (FMF) patients. The study found that the level of miR-197-3p was dysregulated in the serum EVs of FMF patients, suggesting its potential as a diagnostic and therapeutic target.
NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS
(2023)
Review
Medicine, Research & Experimental
Tayfun Hilmi Akbaba, Mustafa Ekici, Ayse Ilksen Colpak, Kelly L. Brown, Omer Karadag, Banu Balci-Peynircioglu
Summary: Behcet's syndrome is a recurring inflammatory multiorgan disorder with complex diagnosis and unclear etiology. There is a need to elucidate its pathogenesis, classify different forms, and discover factors contributing to diagnosis and management.
CLINICAL AND EXPERIMENTAL MEDICINE
(2023)
Meeting Abstract
Biochemistry & Molecular Biology
T. H. Akbaba, B. S. Ozdemir, Y. Z. Akkaya-Ulum, P. Mutlu, S. Ozen, B. Balci-Peynircioglu
Meeting Abstract
Rheumatology
Murat Kiraci, Emre Bilgin, Emine Duran, Bayram Farisogullari, Ertugrul Cagri Bolek, Gozde Kubra Yardimci, Zehra Ozsoy, Gizem Ayan, Gullu Sandal Uzun, Tayfun Hilmi Akbaba, Banu Balci Peynircioglu, Omer Karadag, Ali Akdogan, Sule Apras Bilgen, Sedat Kiraz, Ali Ihsan Ertenli, Umut Kalyoncu, Levent Kilic
ARTHRITIS & RHEUMATOLOGY
(2021)
Article
Rheumatology
T. H. Akbaba, Y. Z. Akkaya-Ulum, Z. Tavukcuoglu, Y. Bilginer, S. Ozen, B. Balci-Peynircioglu
Summary: This study identified several miRNAs potentially associated with a more severe form of monogenic autoinflammatory diseases, involving cytokine-mediated pathways. These miRNAs could be utilized in the development of diagnostic and therapeutic strategies.
CLINICAL AND EXPERIMENTAL RHEUMATOLOGY
(2021)
Article
Rheumatology
S. Ozen, H. L. Lutz, V. M. Rivera, A. Reiff, E. D. Batu, E. Anderson, M. Salas Garcia, G. Aldrovandi, T. H. Akbaba, I. Pazarbasi, Y. Bilginer, A. Balat, B. Balci-Peynircioglu, J. A. Gilbert, F. Dedeoglu, J. S. Hausmann
Summary: This study found significant differences in gut microbiota composition between children with FMF from Turkey and the USA, but this composition did not have a strong impact on disease severity. FMF patients and controls exhibited microbiota differences in different geographic regions, but gut microbiota composition was not a major influencing factor in the development of FMF.
CLINICAL AND EXPERIMENTAL RHEUMATOLOGY
(2021)