Article
Medicine, General & Internal
Zehra Serap Arici, Micol Romano, David Piskin, Ferhat Guzel, Sezgin Sahin, Roberta A. Berard, Mahmut Yilmaz, Erkan Demirkaya
Summary: This study aimed to compare the clinical phenotype of patients with FMF-related AA amyloidosis based on age of FMF diagnosis and E148Q genotype. The most common clinical manifestations were fever, abdominal pain, and arthritis. The study found M694V and E148Q to be the most common genetic mutations, with higher mortality rate among patients with homozygous M694V genotype and the need for close monitoring of patients with homozygous E148Q genotype. The relationship between E148Q and AA amyloidosis warrants further confirmation in other ethnicities.
JOURNAL OF CLINICAL MEDICINE
(2021)
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
Rheumatology
Aysenur Pac Kisaarslan, Nihal Sahin, Sumeyra Ozdemir Cicek, Zubeyde Gunduz, Hakan Poyrazoglu, Ruhan Dusunsel
Summary: The study aimed to evaluate the clinical characteristics of patients with Familial Mediterranean fever (FMF) with Juvenile Spondyloarthropathy (jSpA). Patients with FMF/jSpA showed higher levels of chronic arthritis, erythrocyte sedimentation rate, and C-reactive protein during remission compared to FMF alone. Plantar fasciitis was more common in FMF/jSpA patients, while HLA-B27 positivity was lower.
MODERN RHEUMATOLOGY
(2021)
Article
Medicine, General & Internal
Salam Abbara, Jean-Benoit Monfort, Lea Savey, Philippe Moguelet, David Saadoun, Claude Bachmeyer, Olivier Fain, Benjamin Terrier, Zahir Amoura, Alexis Mathian, Laurent Gilardin, David Buob, Chantal Job-Deslandre, Jean-Francois Dufour, Rebecca Sberro-Soussan, Gilles Grateau, Sophie Georgin-Lavialle
Summary: This study aimed to evaluate the characteristics of French adult patients with both Familial Mediterranean Fever (FMF) and vasculitis. The study found that PAN and IgA vasculitis were the most common types of vasculitis in FMF patients, and FMF-associated PAN had a high frequency of bleeding. FMF should be considered in Mediterranean patients with persistent symptoms and/or inflammatory syndrome despite vasculitis treatment.
FRONTIERS IN MEDICINE
(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)
Article
Biochemistry & Molecular Biology
May E. E. Zekry, Al-Aliaa M. Sallam, Sherihan G. G. AbdelHamid, Waheba A. A. Zarouk, Hala T. T. El-Bassyouni, Hala O. O. El-Mesallamy
Summary: This study demonstrates the correlation between high methylation percentage, reduced pyrin level, and various biomarkers in FMF, highlighting their role in the pathogenesis of the disease and suggesting them as potential therapeutic targets.
CURRENT ISSUES IN MOLECULAR BIOLOGY
(2023)
Article
Immunology
Sylvanus Okogbenin, Cyril Erameh, Joseph Okoeguale, Osahogie Edeawe, Esele Ekuaze, Kelly Iraoyah, John Agho, Mirjam Groger, Benno Kreuels, Lisa Oestereich, Femi O. Babatunde, Peter Akhideno, Stephan Gunther, Michael Ramharter, Till Omansen
Summary: This study reported successful remission of complicated Lassa fever in two patients in Nigeria, who received the anti-inflammatory agent dexamethasone and standard ribavirin treatment.
EMERGING INFECTIOUS DISEASES
(2022)
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)
Review
Clinical Neurology
Nan Hu, Jingwen Niu, Mingsheng Liu
Summary: This study reviewed the cases of CIDP patients with nephropathy and found that male and sensory-predominant CIDP patients are more likely to develop renal diseases. Corticosteroids remain the first-line treatment for CIDP when complicated with renal diseases.
NEUROLOGICAL SCIENCES
(2022)
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
Medicine, General & Internal
Weng Ian Che, Helga Westerlind, Ingrid E. Lundberg, Karin Hellgren, Ralf Kuja-Halkola, Marie E. Holmqvist
Summary: The study investigated familial associations between idiopathic inflammatory myopathies (IIM) and different autoimmune diseases (ADs), finding that patients with IIM had higher odds of having relatives affected by other rheumatic inflammatory diseases (RID) and celiac disease (CeD). Familial associations were also observed for other RIDs, inflammatory bowel diseases (IBD), autoimmune thyroid diseases (AITD), and CeD, suggesting shared genetic susceptibility between IIM and various ADs.
JOURNAL OF INTERNAL MEDICINE
(2023)
Article
Pediatrics
Selen Duygu Arik, Gulsah Kavrul Kayaalp, Vafa Guliyeva, Fatma Gul Demirkan, Ayse Tanatar, Ozlem Akgun, Sengul Caglayan, Kadir Ulu, Taner Coskuner, Serife Gul Karadag, Betul Sozeri, Nuray Aktay Ayaz
Summary: This study compared the characteristics of FMF patients with and without fever during their attacks and highlighted the different clinical presentations of FMF in children.
EUROPEAN JOURNAL OF PEDIATRICS
(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
Pediatrics
Tamar Veres, Gil Amarilyo, Sabreen Abu Ahmad, Maryam Abu Rumi, Riva Brik, Nofar Hezkelo, Orly Ohana, Yoel Levinsky, Gabriel Chodick, Yonatan Butbul Aviel
Summary: The study aims to compare the differences between PFAPA patients with a positive family history and those without. The results show that patients with a positive family history are more likely to experience myalgia and headaches, and have a better response to colchicine treatment. Additionally, family members also exhibit similar symptoms, but with a higher incidence of arthralgia and oral aphthae.
FRONTIERS IN PEDIATRICS
(2022)
Article
Immunology
Maeva Veyssiere, Sara Sadat Aghamiri, Arturo Hernandez Cervantes, Thomas Henry, Vassili Soumelis
Summary: This study aimed to provide a computational model capturing the mechanistic details of biological pathways involved in FMF physiopathology and studying the dynamics of the patient's immune cells. By building a molecular map and a mathematical model of FMF, the researchers were able to identify key players in the disease inflammation phenotype. The results of the study showed that NF-kappa B and JAK1/TYK2 play critical roles in modulating the inflammatory response.
CLINICAL IMMUNOLOGY
(2023)
Article
Rheumatology
Oya Koker, Fatma Gul Demirkan, Figen Cakmak, Nuray Aktay Ayaz
Summary: This study evaluates the performances of recent criteria proposed by the Pediatric Rheumatology International Trials Organization for systemic juvenile idiopathic arthritis (sJIA) compared to the current International League of Associations for Rheumatology criteria. The study found that the Pediatric Rheumatology International Trials Organization criteria had higher sensitivity but comparable specificity compared to the International League of Associations for Rheumatology criteria in diagnosing sJIA.
MODERN RHEUMATOLOGY
(2023)
Article
Rheumatology
Nuray Aktay Ayaz, Fatma Gul Demirkan, Taner Coskuner, Ferhat Demir, Ayse Tanatar, Mustafa cakan, Serife Gul Karadag, Gulcin Otar Yener, Kubra Ozturk, Esra Baglan, Figen cakmak, Senguel caglayan, Semanur Ozdel, Kadir Ulu, Betul Sozeri, Hafize Emine Sonmez
Summary: A novel scoring system was developed to predict colchicine resistance in Familial Mediterranean fever (FMF) based on the initial features of the patients. The scoring system showed high sensitivity and specificity in identifying the risk of colchicine-resistant FMF. By utilizing this reliable tool, timely intervention before complications emerge will be possible.
MODERN RHEUMATOLOGY
(2023)
Article
Rheumatology
Ezgi D. Batu, Seher Sener, Gulcan Ozomay Baykal, Elif Arslanoglu Aydin, Semanur Ozdel, Alenka Gagro, Esra Esen, Merav Heshin-Bekenstein, Niluefer Akpinar Tekgoz, Fatma G. Demirkan, Kubra Ozturk, Olga Vougiouka, H. Emine Sonmez, Maria Cristina Maggio, Ummusen Kaya Akca, Marija Jelusic, Aysenur Pac Kisaarslan, Banu Acar, Nuray Aktay Ayaz, Betul Sozeri, Seza Ozen
Summary: This study analyzed the characteristics, treatment, and outcomes of COVID-19-associated pediatric vasculitis (excluding KD-like vasculitis in MIS-C). The results showed that COVID-19-associated pediatric IgA vasculitis/Henoch-Schönlein purpura had more severe clinical manifestations and poorer treatment outcomes compared to pre-pandemic cases.
ARTHRITIS & RHEUMATOLOGY
(2023)
Article
Rheumatology
Vafa Guliyeva, Fatma Gul Demirkan, Ramazan Emre Yigit, Esra Esen, Yagmur Bayindir, Ruya Torun, Gulsah Kilbas, Deniz Gezgin Yildirim, Gulcin Otar Yener, Mustafa Cakan, Ferhat Demir, Kubra Ozturk, Esra Baglan, Selcuk Yuksel, Sevcan A. Bakkaloglu, Balahan Bora Makay, Aysenur Pac Kisaarslan, Merih Oray, Yelda Bilginer, Rukiye Eker Omeroglu, Seza Ozen, Betul Sozeri, Nuray Aktay Ayaz
Summary: This study aimed to investigate the demographic data, clinical spectrum, and treatment approach of paediatric sarcoidosis. The results showed that there were variations in early-onset and late-onset paediatric sarcoidosis, with different clinical features and recurrence rates. Collaborative studies between disciplines will raise awareness of this rare disease among physicians and facilitate early diagnosis with fewer complications.
MODERN RHEUMATOLOGY
(2023)
Article
Pediatrics
Semanur Ozdel, Hafize Emine Sonmez, Sengul Caglayan, Ozlem Akgun, Tuncay Aydin, Ozge Baba, Ilknur Bagrul, Gulcin Otar Yener, Kubra Ozturk, Ferhat Demir, Deniz Gezgin Yildirim, Serife Gul Karadag, Esra Baglan, Mustafa Cakan, Mukaddes Kalyoncu, Balahan Bora Makay, Sevket Erbil Unsal, Sevcan Bakkaloglu, Mehmet Bulbul, Betul Sozeri, Nuray Aktay Ayaz
Summary: This study aimed to analyze clinical features, long-term follow-up, treatment response, and remission status in a large multicenter cohort of RF-positive polyarthritis patients. The study found that during 2 years of treatment, 44% of RF-positive polyarthritis patients have inactive disease, suggesting the need for aggressive and early treatment.
PEDIATRIC RHEUMATOLOGY
(2023)
Article
Rheumatology
Serife Gul Karadag, Taner Coskuner, Fatma Gul Demirkan, Hafize Emine Sonmez, Semanur Ozdel, Mustafa Cakan, Gulcin Otar Yener, Kubra Ozturk, Ferhat Demir, Betul Sozeri, Nuray Aktay Ayaz
Summary: This study describes the clinical features and treatment outcomes of children with juvenile psoriatic arthritis (JPsA) and compares the different patterns of the disease between early-onset and late-onset age groups. The study found that about one-third of JPsA patients do not have psoriasis at the time of diagnosis, and children with PsA seem to display two different phenotypes.
Article
Medicine, General & Internal
Mustafa Cakan, Semanur Ozdel, Serife Gul Karadag, Kadir Ulu, Figen Cakmak, Gulcin Otar Yener, Kubra Ozturk, Esra Baglan, Hafize Emine Sonmez, Ferhat Demir, Betul Sozeri, Nuray Aktay Ayaz
Summary: This study aimed to identify the early manifestations of juvenile dermatomyositis (JDM), provide follow-up results, and investigate the risk factors for the development of calcinosis. A retrospective review of JDM cases diagnosed between 2005 and 2020 was conducted, including 48 children. The study found that children with myalgia, livedo racemosa, skin hypopigmentation, lower ALT levels, and higher physician visual analog scores at the time of diagnosis had a higher risk for calcinosis.
NORTHERN CLINICS OF ISTANBUL
(2023)
Article
Pediatrics
Guelsah Kavrul Kayaalp, Sengul Caglayan, Fatma Gul Demirkan, Vafa Guliyeva, Gulcin Otar Yener, Kubra Ozturk, Ferhat Demir, Semanur Ozdel, Mustafa Cakan, Hafize Emine Sonmez, Betul Sozeri, Nuray Aktay Ayaz
Summary: This study evaluated the effectiveness of adjusting canakinumab treatment intervals in colchicine-resistant familial Mediterranean fever patients. The results showed that extending the treatment interval may lead to favorable outcomes.
PEDIATRIC RHEUMATOLOGY
(2023)
Article
Rheumatology
Ezgi D. Batu, Fatma Gul Demirkan, Erdal Sag, Lovro Lamot, Ayodele Faleye, Edoardo Marrani, Amit Ziv, Kaveh Ardalan, Sabrina Gmuca, Joost F. Swart, Yosef Uziel
Summary: The COVID-19 pandemic has had a significant impact on pediatric rheumatology practice, leading to changes in drug prescription, increased use of telemedicine, delays in routine care, and an increase in COVID-19-related inflammatory conditions. Addressing these issues is crucial to improving patient care in pediatric rheumatology.
SEMINARS IN ARTHRITIS AND RHEUMATISM
(2023)
Article
Biotechnology & Applied Microbiology
Taner Coskuner, Senguel Caglayan, Ozlem Akgun, Ruya Torun, Emine Nur Sunar Yayla, Ilknur Bagrul, Gulsah Kilbas, Gulcin Otar Yener, Hulya Kose, Kubra Ozturk, Ozge Baba, Mustafa Cakan, Ferhat Demir, Hafize Emine Sonmez, Mukaddes Kalyoncu, Sara Nsebnem Kilic, Selcuk Yuksel, Esra Baglan, Sevcan A. Bakkaloglu, Erbil Unsal, Nuray Aktay Ayaz, Betul Sozeri
Summary: Real-life data from a large cohort of patients suggests that Canakinumab is as safe as claimed in clinical trials.
EXPERT OPINION ON BIOLOGICAL THERAPY
(2023)
