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)
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
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
Clinical Neurology
Inbar Lidor, Shmuel Tiosano, Kassem Sharif, Howard Amital, Arnon D. Cohen, Daniela Amital
Summary: Through big data analysis, the study found a significant association between FMF and higher prevalence of depression and anxiety compared to age- and sex-matched controls. After controlling for confounding variables, this association remained significant, highlighting the importance of raising awareness for these comorbidities.
JOURNAL OF AFFECTIVE DISORDERS
(2021)
Article
Immunology
Anush Martirosyan, David Poghosyan, Susanna Ghonyan, Nune Mkrtchyan, Gayane Amaryan, Gayane Manukyan
Summary: The study found that PMNs in FMF patients exhibited different characteristics depending on whether they were in acute flares or remission periods, which may suggest a reverse migration of tissue-infiltrated PMNs back to the bone marrow, explaining why these PMNs do not cause immune-mediated tissue damage. Additionally, a multidirectional expression of Fc gamma Rs on neutrophils during acute flares was observed, which could indicate heightened sensitivity of mutated pyrin inflammasome towards cytoskeletal modifications in the absence of pathogens.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Rheumatology
Fadi Kharouf, Yuval Ishay, Ariel Kenig, Menachem Bitan, Eldad Ben-Chetrit
Summary: The study found no significant difference in the odds of hospitalization for COVID-19 between FMF patients and the non-FMF population, and similar disease severity and therapeutic approach in FMF COVID-19 inpatients and matched non-FMF COVID-19 inpatients.
Article
Ophthalmology
Neslihan D. Koseoglu, Serdar Ceylaner, Nilgun Yildirim
Summary: This study describes a novel mRNA mutation associated with ligneous conjunctivitis in a patient with heterozygous familial Mediterranean fever mutation. Through whole exome sequencing, the patient was found to have different gene mutations related to LC and FMF. The coexistence of mRNA mutation and genetically predisposed autoinflammatory disease mutation in this patient represents a unique case.
Article
Ophthalmology
Neslihan D. Koseoglu, Serdar Ceylaner, Nilgun Yildirim
Summary: This study describes a novel mRNA mutation associated with LC in a patient with heterozygous FMF mutation. Both LC and FMF are autoinflammatory diseases, and there may be a common genetic pathway between them.
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
Rheumatology
Pavel Olegovich Sotskiy, Olga Leontevna Sotskaya, Hasmik Sureni Hayrapetyan, Tamara Fadei Sarkisian, Anna Rafaelovna Yeghiazaryan, Stepan Armenovich Atoyan, Eldad Ben-Chetrit
Summary: The study found that the etiologies of infertility in FMF patients were similar to those in FGTB patients, but the IVF success rate and pregnancy outcomes were comparable to those in the normal healthy control group. Infertility in FMF patients was associated with the severity of the disease and lack of colchicine treatment.
JOURNAL OF RHEUMATOLOGY
(2021)
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)
Article
Medicine, General & Internal
Bahri Oztas, Hatice Eren, Ali Yagiz Ayla, Ali Koc, Kemal Erol, Adile Irfan, Erkan Caglar, Serdal Ugurlu
Summary: This study investigated the relationship between portal hypertension and familial Mediterranean fever (FMF). The results showed that FMF patients had significantly lower peak portal blood flow velocity compared to the control group, indicating the presence of portal hypertension. However, the differences in other findings related to portal hypertension were not significant.
Article
Hematology
Serap Kirkiz, Zuhre Kaya, Sevim Gonen, Munci Yagci, Ulker Kocak
Summary: This study investigated the simultaneous occurrences of Familial Mediterranean Fever (FMF) in patients with haemophilia, identifying 8 out of 30 severe haemophilic patients with FMF. The study found that FMF patients had fewer target joints and a positive family history, indicating the importance of screening for FMF in haemophilia patients with arthritis and a family history of FMF in Mediterranean countries.
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
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
Rheumatology
Ronen Brenner, Ilan Ben-Zvi, Yael Shinar, Irena Liphshitz, Barbara Silverman, Nir Peled, Carmit Levy, Eldad Ben-Chetrit, Avi Livneh, Shaye Kivity
ARTHRITIS & RHEUMATOLOGY
(2018)
Article
Pediatrics
Karen Arane, Kerry Mendelsohn, Michael Mimouni, Francis Mimouni, Yael Koren, Dafna Brik Simon, Hilla Bahat, Mona Hanna Helou, Amir Mendelson, Nofar Hezkelo, Miguel Glatstein, Yackov Berkun, Eli Eisenstein, Yonatan Aviel Butbul, Riva Brik, Philip J. Hashkes, Yosef Uziel, Liora Harel, Gil Amarilyo
Article
Medicine, Research & Experimental
Gina A. Montealegre Sanchez, Adam Reinhardt, Suzanne Ramsey, Helmut Wittkowski, Philip J. Hashkes, Yackov Berkun, Susanne Schalm, Sara Murias, Jason A. Dare, Diane Brown, Deborah L. Stone, Ling Gao, Thomas Klausmeier, Dirk Foell, Adriana A. De Jesus, Dawn C. Chapelle, Hanna Kim, Samantha Dill, Robert A. Colbert, Laura Failla, Bahar Kost, Michelle O'Brien, James C. Reynolds, Les R. Folio, Katherine R. Calvo, Scott M. Paul, Nargues Weir, Alessandra Brofferio, Ariane Soldatos, Angelique Biancotto, Edward W. Cowen, John J. Digiovanna, Massimo Gadina, Andrew J. Lipton, Colleen Hadigan, Steven M. Holland, Joseph Fontana, Ahmad S. Alawad, Rebecca J. Brown, Kristina I. Rother, Theo Heller, Kristina M. Brooks, Parag Kumar, Stephen R. Brooks, Meryl Waldman, Harsharan K. Singh, Volker Nickeleit, Maria Silk, Apurva Prakash, Jonathan M. Janes, Seza Ozen, Paul G. Wakim, Paul A. Brogan, William L. Macias, Raphaela Goldbach-Mansky
JOURNAL OF CLINICAL INVESTIGATION
(2018)
Article
Genetics & Heredity
Marielle E. Van Gijn, Isabella Ceccherini, Yael Shinar, Ellen C. Carbo, Mariska Slofstra, Juan I. Arostegui, Guillaume Sarrabay, Dorota Rowczenio, Ebun Omoyimni, Banu Balci-Peynircioglu, Hal M. Hoffman, Florian Milhavet, Morris A. Swertz, Isabelle Touitou
JOURNAL OF MEDICAL GENETICS
(2018)
Letter
Rheumatology
Ronen Brenner, Ilan Ben-Zvi, Yael Shinar, Avi Livneh, Irena Liphshitz, Barbara Silverman, Nir Peled, Carmit Levy, Eldad Ben-Chetrit, Shaye Kivity
ARTHRITIS & RHEUMATOLOGY
(2018)
Article
Medicine, Research & Experimental
Rune Busk Damgaard, Paul R. Elliott, Kirby N. Swatek, Eamonn R. Maher, Polina Stepensky, Orly Elpeleg, David Komander, Yackov Berkun
EMBO MOLECULAR MEDICINE
(2019)
Article
Rheumatology
Marco Gattorno, Michael Hofer, Silvia Federici, Federica Vanoni, Francesca Bovis, Ivona Aksentijevich, Jordi Anton, Juan Ignacio Arostegui, Karyl Barron, Eldad Ben-Cherit, Paul A. Brogan, Luca Cantarini, Isabella Ceccherini, Fabrizio De Benedetti, Fatma Dedeoglu, Erkan Demirkaya, Joost Frenkel, Raphaela Goldbach-Mansky, Ahmet Gul, Veronique Hentgen, Hal Hoffman, Tilmann Kallinich, Isabelle Kone-Paut, Jasmin Kuemmerle-Deschner, Helen J. Lachmann, Ronald M. Laxer, Avi Livneh, Laura Obici, Seza Ozen, Dorota Rowczenio, Ricardo Russo, Yael Shinar, Anna Simon, Natasa Toplak, Isabelle Touitou, Yosef Uziel, Marielle van Gijn, Dirk Foell, Claudia Garassino, Dan Kastner, Alberto Martini, Maria Pia Sormani, Nicolino Ruperto
ANNALS OF THE RHEUMATIC DISEASES
(2019)
Article
Biochemistry & Molecular Biology
Dorota Rowczenio, Yael Shinar, Isabella Ceccherini, Katie Sheils, Marielle Van Gijn, Simon J. Patton, Isabelle Touitou
EUROPEAN JOURNAL OF HUMAN GENETICS
(2019)
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
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
Immunology
Yonatan Butbul Aviel, Philip J. Hashkes, Yotam Dizitzer, Kanteman Inbar, Yackov Berkun, Eli M. Eisenstein, Mohamad Hamad Saied, Ofra Goldzweig, Merav Heshin-Bekenstein, Eduard Ling, Michal Feldon, Rotem Tal, Shiran Pinchevski-Kadir, Irit Tirosh, Liora Harel, Gil Amarilyo, Kfir Kaidar
Summary: This study reports the experiences of adolescent and young adults who developed post-COVID-19 vaccine myocarditis and compares them to patients with pediatric inflammatory multisystem syndrome (PIMS). The results show that patients with post-vaccination myocarditis have a favorable clinical course, with shorter hospital stays and less myocardial dysfunction compared to PIMS patients.
Article
Rheumatology
M. Lidar, Y. Brantz, Y. Shinar, H. Reznik-Wolf, A. Livneh, I. Ben Zvi, R. Cohen, Y. Berkun, P. J. Hashkes, H. Peleg, A. Kessel, G. Slobodin, M. Rozenbaum, O. Goldzweig, E. Pras
CLINICAL AND EXPERIMENTAL RHEUMATOLOGY
(2017)
Meeting Abstract
Rheumatology
Gina A. Montealegre Sanchez, Adam Reinhardt, Suzanne Ramsey, Helmut Wittkowski, Philip J. Hashkes, Sara Murias, Yackov Berkun, Susanne Schalm, Jason A. Dare, Diane Brown, Deborah L. Stone, Ling Gao, Thomas L. Klausmeier, John D. Carter, Robert Colbert, Dawn C. Chapelle, Hanna Kim, Samantha Dill, Adriana Almeida de Jesus, Paul Wakim, A. Zlotogorski, Seza Ozen, Paul Brogan, Raphaela Goldbach-Mansky
ARTHRITIS & RHEUMATOLOGY
(2017)
Article
Medicine, General & Internal
Yackov Berkun, Reeval Segel, Paulina Navon-Elkan
ISRAEL MEDICAL ASSOCIATION JOURNAL
(2017)
Article
Rheumatology
G. Amarilyo, Y. Koren, D. Brik Simon, M. Bar-Meir, H. Bahat, M. H. Helou, A. Mendelson, N. Hezkelo, G. Chodick, Y. Berkun, E. Eisenstein, Y. Butbul Aviel, G. Barkai, Y. Bolkier, S. Padeh, R. Brik, P. J. Hashkes, L. Harel, Y. Uziel
CLINICAL AND EXPERIMENTAL RHEUMATOLOGY
(2017)