Article
Medicine, General & Internal
Joerg C. Henes, Sebastian Saur, David M. Kofler, Claudia Kedor, Christoph Meisner, Marion Schuett, Martin Krusche, Ina Koetter, Theodoros Xenitidis, Hendrik Schulze-Koops, Eugen Feist
Summary: This study evaluated the effectiveness and safety of the IL-6 receptor antibody Tocilizumab in treating Familial Mediterranean Fever. The results showed that more patients in the Tocilizumab group achieved an adequate treatment response compared to the placebo group. Tocilizumab also normalized the serum amyloid A levels, which is important in preventing amyloidosis. These findings need to be confirmed in a larger trial.
JOURNAL OF CLINICAL MEDICINE
(2022)
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.
Review
Pharmacology & Pharmacy
Dimitri Poddighe, Micol Romano, Facundo Garcia-Bournissen, Erkan Demirkaya
Summary: Familial Mediterranean fever (FMF) is commonly diagnosed in childhood and is treated predominantly with colchicine, but in cases of intolerance or resistance, the use of biologics, especially interleukin-1 antagonists, should be considered.
BRITISH JOURNAL OF CLINICAL PHARMACOLOGY
(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
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
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)
Article
Rheumatology
T. Koga, S. Sato, N. Hagimori, H. Yamamoto, M. Ishimura, T. Yasumi, Y. Kirino, K. Ikeda, A. Yachie, K. Migita, D. Kishida, T. Atsumi, A. Kawakami
Summary: The study evaluated the efficacy and safety of tocilizumab in Japanese patients with familial Mediterranean fever. Although the primary endpoint was not met in the initial trial, long-term administration of TCZ showed stable efficacy and safety for patients with colchicine-resistant or -intolerant FMF.
CLINICAL AND EXPERIMENTAL RHEUMATOLOGY
(2022)
Article
Immunology
Abhishek Giri, Abhilasha Karkey, Sabina Dangol, Amit Arjyal, Sunil Pokharel, Samita Rijal, Damodar Gajurel, Rabi Sharma, Kamal Lamsal, Pradip Shrestha, Gayatri Prajapati, Saruna Pathak, Sita Ram Shrestha, Raj K. C. Kumar, Sujata Pandey, Abishkar Thapa, Nistha Shrestha, Raj Kumar Thapa, Buddhi Poudyal, Dung Nguyen Thi Phuong, Stephen Baker, Evelyne Kestelyn, Ronald Geskus, Guy Thwaites, Buddha Basnyat
Summary: A study in Nepal comparing the efficacy of azithromycin and SXT for the treatment of undifferentiated febrile illness found that azithromycin had slightly better outcomes in terms of fever clearance time, treatment failure, and fewer complications. Therefore, in practical application, azithromycin may be a better choice for empirical treatment of undifferentiated febrile illness.
CLINICAL INFECTIOUS DISEASES
(2021)
Article
Pediatrics
Havva Kacan, Gamze Kas Alay, Eren Yildiz
Summary: This study aimed to examine the effects of individual education given to Turkish adolescents with Familial Mediterranean fever (FMF) on anxiety, depression, and quality of life. The randomized controlled experimental study was conducted on 70 FMF-diagnosed adolescents aged 12-18 years in Turkey. The intervention group received individual disease management education using a booklet, while the control group received no intervention. The results showed that the education program significantly decreased depression levels and improved quality of life, but did not have a significant impact on anxiety levels.
EUROPEAN JOURNAL OF PEDIATRICS
(2023)
Article
Rheumatology
Didem Erdem Gursoy, Halise Hande Gezer, Nuran Oz, Aygun Ozer, Sevtap Acer Kasman, Mehmet Tuncay Duruoz
Summary: The study found that smoking, attack duration, presence of arthritis, and disease severity were associated with colchicine resistance in FMF patients. Colchicine-resistant patients had poorer health-related quality of life.
INTERNATIONAL JOURNAL OF RHEUMATIC DISEASES
(2022)
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)
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.
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
Pediatrics
David Piskin, Zehra Serap Arici, Dilek Konukbay, Micol Romano, Balahan Makay, Nuray Ayaz, Yelda Bilginer, Roberta A. Berard, Hakan Poyrazoglu, Ozgur Kasapcopur, Ronald M. Laxer, Kathy Speechley, Erkan Demirkaya
Summary: This study found that the number of episodes in the past 12 months is moderately correlated with patient- and parent-reported outcomes in patients with Familial Mediterranean fever (FMF). Therefore, the number of episodes can be used as a measure to assess disease activity.
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)
Review
Orthopedics
J. Samuels, M. H. Pillinger, D. Jevsevar, D. Felson, L. S. Simon
Summary: Intra-articular injections of glucocorticoids have been shown to be effective and relatively safe in patients with knee osteoarthritis, with few contraindications and rare injection-associated complications when delivered with proper technique. However, there are still important unanswered questions regarding the long-term effects and predictive factors of response to intra-articular glucocorticoids in knee osteoarthritis patients, highlighting the need for further research in this area.
OSTEOARTHRITIS AND CARTILAGE
(2021)
Letter
Orthopedics
B. Plotz, M. Pillinger, J. Samuels
OSTEOARTHRITIS AND CARTILAGE
(2022)
Article
Orthopedics
Yunyun Luo, Jonathan Samuels, Svetlana Krasnokutsky, Inger Byrjalsen, Virginia B. Kraus, Yi He, Morten A. Karsdal, Steven B. Abramson, Mukundan Attur, Anne C. Bay-Jensen
Summary: This study examined the association of cartilage formation level with OA severity and radiographic OA progression using the blood-based marker PRO-C2. Results showed that subjects with low levels of PRO-C2 had greater risk of joint space narrowing progression, indicating PRO-C2 may be an objective indicator of a low cartilage repair endotype with radiographic progression.
JOURNAL OF ORTHOPAEDICS AND TRAUMATOLOGY
(2021)
Article
Rheumatology
Wenyu Fu, Aubryanna Hettinghouse, Yujianan Chen, Wenhuo Hu, Xiang Ding, Meng Chen, Yuanjing Ding, Jyoti Mundra, Wenhao Song, Ronghan Liu, Young-Su Yi, Mukundan Attur, Jonathan Samuels, Eric Strauss, Philipp Leucht, Ran Schwarzkopf, Chuan-Ju Liu
Summary: This study identifies 14-3-3ε as an inducible component of the TNFR2 receptor complex in chondrocytes in response to PGRN, presenting a previously unrecognized TNFR2 pathway in the pathogenesis of osteoarthritis.
ANNALS OF THE RHEUMATIC DISEASES
(2021)
Article
Rheumatology
Rebecca H. Haberman, Ramin Sedaghat Herati, David Simon, Marie Samanovic, Rebecca B. Blank, Michael Tuen, Sergei B. Koralov, Raja Atreya, Koray Tascilar, Joseph R. Allen, Rochelle Castillo, Amber R. Cornelius, Paula Rackoff, Gary Solomon, Samrachana Adhikari, Natalie Azar, Pamela Rosenthal, Peter Izmirly, Jonathan Samuels, Brian Golden, Soumya Reddy, Markus Neurath, Steven B. Abramson, Georg Schett, Mark J. Mulligan, Jose U. Scher
Summary: The study found that patients with immune-mediated inflammatory diseases (IMIDs) on methotrexate treatment showed impaired humoral and cellular immune response to COVID-19 mRNA vaccines, while healthy subjects and IMID patients on biologic treatments demonstrated strong antibody responses. These results suggest that different strategies may need to be explored to enhance immunization efficacy for IMID patients on methotrexate treatment.
ANNALS OF THE RHEUMATIC DISEASES
(2021)
Article
Pediatrics
Alia Dani, Justin S. Heidel, Tingting Qiu, Yin Zhang, Yizhao Ni, Md Monir Hossain, Clifford Chin, David L. S. Morales, Bin Huang, Farhan Zafar
Summary: This study compared and validated PHT risk score models from the literature, finding that Choudhry and SRTR models had the best prediction for 1-year mortality, but none showed a strong concordance statistic above 0.8.
PEDIATRIC TRANSPLANTATION
(2022)
Article
Pediatrics
Alia Dani, Quyen Vu, Karthik Thangappan, Bin Huang, Samuel Wittekind, Angela Lorts, Clifford Chin, David L. S. Morales, Farhan Zafar
Summary: Studies have shown that the optimal ischemia time (IT) threshold in pediatric heart transplantation is up to 4 hours, but it does not apply to all cases. Recipients with a left ventricular ejection fraction (LVEF) of 65% or higher can tolerate an IT of up to 6 hours without any detrimental effects on survival.
PEDIATRIC TRANSPLANTATION
(2022)
Article
Pediatrics
Ellen M. Cody, Scott E. Wenderfer, Kathleen E. Sullivan, Alfred H. J. Kim, Wesley Figg, Harneet Ghumman, Tingting Qiu, Bin Huang, Prasad Devarajan, Hermine Brunner
Summary: The Renal Activity Index for Lupus (RAIL) can non-invasively identify lupus nephritis (LN) and assess the efficacy of LN induction therapy. RAIL scores can differentiate clinically active LN from inactive LN or without LN. RAIL scores significantly decrease after complete LN remission.
PEDIATRIC NEPHROLOGY
(2023)
Article
Orthopedics
Kinjal Vasavada, Dhruv S. Shankar, Amanda Avila, Charles C. Lin, David Marulanda, Laith M. Jazrawi, Jonathan Samuels
Summary: The purpose of this study was to determine the rate and characteristics of postoperative flares in rheumatic disease patients undergoing arthroscopic surgery, and the role of perioperative immunosuppression (IS) management in preventing or provoking these exacerbations. The study found that patients who continued to take IS medication or stopped taking IS medication before surgery had similar risks of flare-ups after arthroscopy, while patients not taking any IS medication had a lower risk of flaring.
Editorial Material
Orthopedics
J. Samuels, M. Attur
OSTEOARTHRITIS AND CARTILAGE
(2023)
Article
Medicine, General & Internal
Amanda Warniment, Hadley Sauers-Ford, Patrick W. Brady, Andrew F. Beck, Scott R. Callahan, Diane Herzog, Bin Huang, Allison Loechtenfeldt, Lisa Loechtenfeldt, Chelsey L. Miller, Elizabeth Perez, Samir S. S. Shah, Merlyn Shepard, Heidi J. Sucharew, Ken Tegtmeyer, Joanna E. Thomson, Katherine A. Auger
Summary: This study aims to compare the effectiveness of a bundle intervention for hospital discharge transition care with the standard care coordination process in order to assess healthcare reutilization and patient- and family-centered outcomes for children with complex medical conditions.
JOURNAL OF HOSPITAL MEDICINE
(2023)
Article
Computer Science, Interdisciplinary Applications
Chen Chen, Bin Huang, Michal Kouril, Jinzhong Liu, Hang Kim, Siva Sivaganisan, Jeffrey A. Welge, Melissa P. Delbello
Summary: This article introduces methods and tools for evaluating treatment effect, primarily developed for binary treatments. However, treatment is rarely binary in non-experimental settings and can vary in dosage, frequency, and time. The article presents an API that implements both BART and GP for estimating ATE and CATE for time-varying treatment strategies.
FRONTIERS IN COMPUTER SCIENCE
(2023)
Article
Orthopedics
Kinjal Vasavada, Laith M. Jazrawi, Jonathan Samuels
Summary: With the rise of arthroscopic surgeries in patients with rheumatic diseases, physicians are managing immunosuppressive medications to minimize infection risk and optimize disease control. There is a lack of randomized controlled trial data specifically for arthroscopic surgeries, leading to uncertainties in perioperative management of immunosuppressants in this patient population.
CURRENT REVIEWS IN MUSCULOSKELETAL MEDICINE
(2021)
Article
Rheumatology
Mukundan Attur, Xin Duan, Lei Cai, Tianzhen Han, Weili Zhang, Eric D. Tycksen, Jonathan Samuels, Robert H. Brophy, Steven B. Abramson, Muhammad Farooq Rai
Summary: Postn deficiency was found to significantly reduce cartilage degeneration and synovitis in both post-traumatic and age-related models of OA in mice, as well as result in lower trabecular bone parameters. Additionally, RNA-seq analysis revealed differences in gene expression related to cell adhesion, differentiation, cell cycle, and DNA repair between Postn(-/-) and wild-type mice, suggesting a potential mechanistic role of Postn in OA.
ARTHRITIS RESEARCH & THERAPY
(2021)
Article
Rheumatology
Daniel J. Lovell, Bin Huang, Chen Chen, Sheila T. Angeles-Han, Teresa A. Simon, Hermine Brunner
Summary: This study compared the prevalence of multiple coexisting autoimmune diseases in patients with juvenile idiopathic arthritis (JIA) and a general paediatric (GP) patient population. Results showed that JIA patients had a higher prevalence of a large number of coexisting autoimmune diseases compared to the GP population, with 53.8% of the evaluated conditions having significantly higher prevalence in the JIA cohort.
