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
Medicine, General & Internal
Juliette Bardet, Noemie Laverdure, Mathieu Fusaro, Capucine Picard, Lorna Garnier, Sebastien Viel, Sophie Collardeau-Frachon, Jean-Marie De Guillebon, Isabelle Durieu, Clemence Casari-Thery, Guillaume Mortamet, Audrey Laurent, Alexandre Belot
Summary: NLRC4 inflammasome, a part of human innate immune system, is associated with diverse clinical manifestations and limited genotype-phenotype correlations. Patients may present with gastrointestinal symptoms and vasoplegic shock, requiring plasma IL-18 level and genetic screening for final diagnosis.
JOURNAL OF CLINICAL MEDICINE
(2021)
Review
Immunology
Kanako Mitsui-Sekinaka, Yujin Sekinaka, Akifumi Endo, Kohsuke Imai, Shigeaki Nonoyama
Summary: The Primary Immunodeficiency Database in Japan (PIDJ) is a registry of primary immunodeficiency diseases (PIDs) that provides patient details and case consultation service, contributing to the research and care in the field of PIDs and autoinflammatory diseases (AIDs).
FRONTIERS IN IMMUNOLOGY
(2022)
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
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
Immunology
McKella Sylvester, Aran Son, Daniella M. Schwartz
Summary: Autoinflammatory diseases are characterized by the overactivation of innate immune pathways, while clinical allergy is caused by dysregulation of type 2 immunity. In some contexts, autoinflammatory pathways and cytokines may boost type 2 immune responses, and conversely, type 2 immune cells and cytokines can regulate autoinflammatory responses in a complex manner.
FRONTIERS IN IMMUNOLOGY
(2022)
Review
Pharmacology & Pharmacy
Valentina Andretto, Silvia Dusi, Serena Zilio, Mathieu Repellin, David Kryza, Stefano Ugel, Giovanna Lollo
Summary: Autoinflammatory disorders and autoimmune diseases are caused by immune abnormalities, and both have abnormal inflammation. Anti-TNF-α antibodies are revolutionary in treating autoimmune diseases, but their development and accessibility are limited. Nanotechnology has provided breakthroughs for nucleic acid treatment of autoinflammatory diseases.
ADVANCED DRUG DELIVERY REVIEWS
(2023)
Article
Fisheries
Danny Morick, Yuval Maron, Nadav Davidovich, Ziv Zemah-Shamir, Yaarit Nachum-Biala, Peleg Itay, Natascha Wosnick, Dan Tchernov, Shimon Harrus
Summary: This study collected samples of four wild marine fish species in Israel and found that some of the samples were infected with the pathogen Photobacterium damselae. The results suggest that fish living in polluted environments are more susceptible to pathogenic microorganisms. Further research is needed to assess the impact of pathogens on population management and conservation, including quantifying the effects of pollutants on pathogen emergence and establishing a standard pollution level index.
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
Immunology
Yosuke Kunishita, Yohei Kirino, Naomi Tsuchida, Ayaka Maeda, Yuichiro Sato, Kaoru Takase-Minegishi, Ryusuke Yoshimi, Hideaki Nakajima
Summary: Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is an autoinflammatory disease caused by somatic variants in the UBA1 gene. No standard therapy has been established yet. This study reports that the combination of tocilizumab and glucocorticoids can delay disease progression and reduce the use of glucocorticoids in VEXAS syndrome patients.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Medicine, General & Internal
Antonio Vitale, Valeria Caggiano, Isabel Silva, Daniel G. Oliveira, Piero Ruscitti, Francesco Ciccia, Ibrahim Vasi, Abdurrahman Tufan, Giuseppe Lopalco, Ibrahim A. AlMaghlouth, Jurgen Sota, Ewa Wiesik-Szewczyk, Carla Gaggiano, Henrique Ayres Mayrink Giardini, Veronica Spedicato, Gaafar Ragab, Florenzo Iannone, Alberto Balistreri, Micol Frassi, Jose Hernandez-Rodriguez, Claudia Fabiani, Paolo Falsetti, Nunzia Di Meglio, Bruno Frediani, Maria Antonietta Mazzei, Donato Rigante, Raquel Faria, Luca Cantarini
Summary: This study describes a cohort of patients with apparently unexplained recurrent fever who were diagnosed with non-radiographic axial spondylarthritis (SpA) after a complete clinical and radiologic assessment. The mean age at diagnosis of axial SpA was 39.9 years, with a diagnostic delay of 9.3 years. The most common symptoms associated with fever were arthralgia, myalgia, arthritis, headache, diarrhea, abdominal pain, and skin rash. Treatment included non-steroidal anti-inflammatory drugs, glucocorticoids, colchicine, disease modifying anti-rheumatic drugs, and biotechnological agents. In patients with unexplained fevers, inquiring about signs and symptoms of axial SpA is necessary, as specific treatment may improve the severity and/or frequency of fever episodes.
FRONTIERS IN MEDICINE
(2023)
Review
Immunology
Riccardo Papa, Federica Penco, Stefano Volpi, Marco Gattorno
Summary: An increasing number of monogenic immune-mediated diseases are linked to genes associated with actin cytoskeleton remodeling pathways. These diseases range from pure autoinflammatory conditions to primary immunodeficiencies, with a common theme of cytoskeleton defects. This emerging field provides immunologists with new insights into the physiological and pathological roles of actin cytoskeleton in immune cells.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Environmental Sciences
Aylin Ulman, Fadilah Z. Ali, Holden E. Harris, Mohammad Adel, Sara A. A. Al Mabruk, Michel Bariche, Allison C. Candelmo, Jennifer K. Chapman, Burak Ali cicek, Kaylin R. Clements, Alexander Q. Fogg, Stacy Frank, Stephen R. Gittings, Stephanie J. Green, Jason M. Hall-Spencer, Jim Hart, Summer Huber, Philip E. Karp, Fabian C. Kyne, Demetris Kletou, Lauryn Magno, Shevy B. S. Rothman, Jennifer N. Solomon, Nir Stern, Taner Yildiz
Summary: This article reviews the invasion of lionfish in the Western Atlantic Ocean and the Mediterranean Sea and provides policy recommendations for managing their populations. The study suggests routine removals and the development of recreational and commercial fisheries as effective management approaches. It also emphasizes the importance of engaging local communities and stakeholders. The article highlights the need for multinational cooperation in controlling the invasion and suggests potential opportunities for implementing management strategies in the Mediterranean.
FRONTIERS IN MARINE SCIENCE
(2022)
Article
Environmental Sciences
Massimiliano Bottaro, Mauro Sinopoli, Iacopo Bertocci, Maria Cristina Follesa, Alessandro Cau, Ivan Consalvo, Faustino Scarcelli, Emilio Sperone, Marino Vacchi, Letizia Marsili, Guia Consales, Roberto Danovaro
Summary: Deep-sea Chondrichthyes, including the kitefin shark Dalatias licha, are highly vulnerable to human impacts due to their late maturation, extreme longevity, low fecundity, and slow growth rates. However, assessing the impact of deep-sea fisheries on these species is challenging due to the lack of fishery data sets and species-specific life history information. This study presents data on the kitefin shark collected as bycatch from deep-water fisheries in the Ligurian Sea, highlighting the rarity, complex ecology, and threats this species faces, emphasizing the need for monitoring and conservation efforts.
FRONTIERS IN MARINE SCIENCE
(2023)
Article
Rheumatology
Na Wu, Di Wu, Junke Miao, Mengzhu Zhao, Yi Wang, Weihong Yu, Min Shen
Summary: This study describes the phenotype and genotype of a cohort of Chinese adult patients with NLRP3-associated autoinflammatory disease (NLRP3-AID). The results show that NLRP3-AID patients have diverse clinical manifestations and a high degree of heterogeneity in genetic mutations.
CLINICAL RHEUMATOLOGY
(2023)
Article
Rheumatology
Edoardo Conticini, Paolo Falsetti, Silvia Grazzini, Caterina Baldi, Roberto D'Alessandro, Suhel Gabriele Al Khayyat, Giovanni Biasi, Francesca Bellisai, Marco Bardelli, Stefano Gentileschi, Estrella Garcia-Gonzalez, Nila Volpi, Stefano Barbagli, Marta Fabbroni, Miriana d'Alessandro, Elena Bargagli, Luca Cantarini, Bruno Frediani
Summary: This study evaluated the diagnostic accuracy of power Doppler ultrasonography (PDUS) score in patients with idiopathic inflammatory myopathies (IIM) and its usefulness during follow-up. The findings suggest that PDUS is a reliable diagnostic tool and can be used for monitoring patients with IIM.
Review
Immunology
Silvia Grazzini, Chiara Rizzo, Edoardo Conticini, Roberto D'Alessandro, Lidia La Barbera, Miriana D'Alessandro, Paolo Falsetti, Elena Bargagli, Giuliana Guggino, Luca Cantarini, Bruno Frediani
Summary: Idiopathic inflammatory myopathies (IIM) are a group of diseases that affect striate muscle, lung, joints, skin, and gastrointestinal tract. The current treatment mainly involves glucocorticoids and immunosuppressants. However, for refractory cases, the use of biologic disease modifying drugs (bDMARDs) has shown promising results.
AUTOIMMUNITY REVIEWS
(2023)
Review
Immunology
Antonio Vitale, Valeria Caggiano, Virginia Berlengiero, Maria Orsetta Perfetti, Jurgen Sota, Gian Marco Tosi, Bruno Frediani, Luca Cantarini, Claudia Fabiani
Summary: Behcet's disease (BD) associated uveitis occurs in a significant percentage of patients and can lead to severe visual impairment. Treatment with tumor necrosis factor (TNF) inhibitors and other biologic agents shows promise, but more evidence is needed. The Auto-Inflammatory Disease Alliance (AIDA) Network is working on an international registry to address the unmet needs in the clinical practice.
EXPERT REVIEW OF CLINICAL IMMUNOLOGY
(2023)
Review
Medicine, General & Internal
Antonio Vitale, Valeria Caggiano, Antonio Bimonte, Federico Caroni, Gian Marco Tosi, Alessandra Fabbiani, Alessandra Renieri, Monica Bocchia, Bruno Frediani, Claudia Fabiani, Luca Cantarini
Summary: VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is an acquired monogenic autoinflammatory disease caused by somatic mutations of the UBA1 gene, leading to systemic inflammation. It has a heterogeneous clinical picture resembling various other systemic rheumatic diseases coexisting with hematological disorders, especially myelodysplastic syndrome. This syndrome represents a fascinating clinical condition of adult-onset monogenic autoinflammatory diseases caused by genetic mosaicism originating from bone marrow disorders. It should be considered in patients with unexplained systemic inflammatory conditions, particularly when accompanied by myelodysplastic syndrome or other hematological disorders.
INTERNAL AND EMERGENCY MEDICINE
(2023)
Article
Medicine, General & Internal
Vitale Antonio, Virginia Berlengiero, Valeria Caggiano, Sara Barneschi, Mariam Mourabi, Jurgen Sota, Stefano Gentileschi, Maria Cristina Maggio, Carla Gaggiano, Maria Tarsia, Gian Marco Tosi, Giuseppe Lopalco, Claudia Fabiani, Bruno Frediani, Luca Cantarini
Summary: The aim of the study was to evaluate the frequency and features of positive pathergy test (PPT) in Italy and its role in the diagnosis of Behcet's disease (BD). The results showed that the occurrence of skin erythema at PPT could be sufficient to unveil the hyper-reactivity of the innate immune system in BD patients from Western Europe. The sensitivity and specificity of erythema at self-saliva prick test were also determined.
INTERNAL AND EMERGENCY MEDICINE
(2023)
Correction
Rheumatology
Marta Bustaffa, Isabelle Kone-Paut, Seza Ozen, Gayane Amaryan, Efimia Papadopoulou-Alataki, Romina Gallizzi, Maria Carrabba, Yonatan Butbul Aviel, Luca Cantarini, Maria Alessio, Jordi Anton, Laura Obici, Faysal Gok, Ezgi Deniz Batu, Estefania Moreno, Paul Brogan, Maria Trachana, Gabriele Simonini, Donato Rigante, Yosef Uziel, Antonella Insalaco, Maria Cristina Maggio, Nicolino Ruperto, Marco Gattorno, Rossi Semerano
SEMINARS IN ARTHRITIS AND RHEUMATISM
(2023)
Article
Biochemistry & Molecular Biology
Paola Triggianese, Mauro Fatica, Francesco Caso, Luisa Costa, Arianna D'Antonio, Marco Tasso, Elisabetta Greco, Paola Conigliaro, Alberto Bergamini, Claudia Fabiani, Luca Cantarini, Maria Sole Chimenti
Summary: Non-infectious uveitis (NIU) is often the initial manifestation of systemic rheumatic diseases, and rheumatologists play a crucial role in its diagnosis and treatment. This study evaluated 130 patients with NIU and found that anterior uveitis (AU) was the most common type, predominantly associated with spondyloarthritis (SpA). HLA-B27(+) patients had a higher prevalence of AU with an acute course, while HLA-B51(+) patients had mostly posterior uveitis (PU) with a recurrent course. Rheumatologic referral significantly influenced the treatment strategies for NIU.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Vincenzo Venerito, Pasquale Stefanizzi, Luca Cantarini, Marlea Lavista, Maria Grazia Galeone, Antonio Di Lorenzo, Florenzo Iannone, Silvio Tafuri, Giuseppe Lopalco
Summary: RA patients treated with JAK inhibitors or anti-cellular bDMARDS have an increased risk of herpes zoster (HZ). This prospective study assessed the immunogenicity and safety of the Adjuvanted Recombinant Zoster Vaccine (RZV) in RA patients on JAK inhibitors or anti-cellular bDMARDS. The results showed that RZV vaccination induced a similar immune response in RA patients compared to healthy controls, regardless of the treatment.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Miriana d'Alessandro, Laura Bergantini, Sara Gangi, Edoardo Conticini, Dalila Cavallaro, Paolo Cameli, Fabrizio Mezzasalma, Luca Cantarini, Bruno Frediani, Elena Bargagli
Summary: This study compared the expression of T and B cell subsets in sarcoidosis and B-mediated rheumatic diseases. They found significant differences in 15 cell subsets between sarcoidosis, rheumatic disorders, and controls. Principal components analysis and decision tree analysis were used to distinguish different diseases. This study sheds light on the immune cell profile and provides potential for biological therapies in treating sarcoidosis.
Article
Biology
Roberto D'Alessandro, Estrella Garcia Gonzalez, Paolo Falsetti, Edoardo Conticini, Miriana d'Alessandro, Enrico Selvi, Francesca Bellisai, Virginia Berlengiero, Giulia Vallifuoco, Anna Paola Pata, Marco Bardelli, Caterina Baldi, Luca Cantarini, Elena Bargagli, Bruno Frediani
Summary: This study evaluates the involvement of radial and ulnar arteries in SSc patients using ultrasound evaluation. The results show that ulnar artery occlusion is a unique feature of SSc, present in 28% of cases and associated with interstitial lung disease (ILD) and late nailfold-video-capillaroscopy (NVC) pattern.
Article
Rheumatology
Edoardo Conticini, Marco Bardelli, Antonio Vitale, Renato De Stefano, Paolo Falsetti, Enrico Selvi, Maria Romana Bacarelli, Roberto D'Alessandro, Luca Cantarini, Bruno Frediani, Stefano Gentileschi
Summary: This study retrospectively evaluated histological and autoimmunity data from patients suspected of having SS who underwent MSGB. The results showed that MSGB is a useful diagnostic tool for SS and there is a correlation between histological findings and autoimmune profiles.
Article
Biochemistry & Molecular Biology
Brunetta Porcelli, Miriana d'Alessandro, Latika Gupta, Silvia Grazzini, Nila Volpi, Maria Romana Bacarelli, Federica Ginanneschi, Giovanni Biasi, Francesca Bellisai, Marta Fabbroni, David Bennett, Claudia Fabiani, Luca Cantarini, Elena Bargagli, Bruno Frediani, Edoardo Conticini
Summary: This study assessed the diagnostic accuracy of anti-cN1A antibodies in patients with suspected IIM and evaluated the agreement between line immunoassay (LIA) and enzyme-linked immunoassay (ELISA). The results showed excellent concordance between LIA and ELISA for detecting anti-cN1A antibodies, suggesting that LIA could be a rapid and useful adjunct, and it could even replace ELISA for cN1A assay.
Article
Radiology, Nuclear Medicine & Medical Imaging
Edoardo Conticini, Paolo Falsetti, Claudia Fabiani, Caterina Baldi, Silvia Grazzini, Gian Marco Tosi, Luca Cantarini, Bruno Frediani
Summary: The aim of this study was to assess the role of Color Doppler Eye Ultrasound (CDEUS) in the differential diagnosis between arteritic and non-arteritic blindness. The results showed that CDEUS displayed good reliability in distinguishing between arteritic and non-arteritic central retinal artery occlusion (CRAO), but no significant difference was found in arteritic and non-arteritic anterior ischemic optic neuropathy (AION). Therefore, CDEUS is not a reliable procedure in the diagnostic work-up of giant cell arteritis (GCA) and should be restricted to the exclusion of thrombo-embolic occlusions within the territory of central retinal artery.
JOURNAL OF ULTRASOUND
(2023)
Article
Rheumatology
Caterina Matucci-Cerinic, Helene Palluy, Sulaiman Al-Mayouf, Paul A. Brogan, Luca Cantarini, Ahmet Gul, Ozgur Kasapcopur, Jasmin Kuemmerle-Deschner, Seza Ozen, David Saadoun, Farhad Shahram, Francesca Bovis, Eugenia Mosci, Nicolino Ruperto, Marco Gattorno, Isabelle Kone-Paut
Summary: The objective of this study was to validate the PEDiatric Behcet's Disease classification criteria (PEDBD) using an evidence-based approach. The results showed that the PEDBD criteria were highly specific, while the ICBD criteria were more sensitive. Further research is needed to evaluate the performance of the criteria.
Article
Radiology, Nuclear Medicine & Medical Imaging
Suhel G. Al Khayyat, Giuseppe Fogliame, Stefano Barbagli, Edoardo Conticini, Marta Fabbroni, Roberto D'Alessandro, Antonio Vitale, Stefano Gentileschi, Marco Bardelli, Caterina Baldi, Salvatore Massimo Stella, Annarita Saponara, Andrea Del Chiaro, Paolo Falsetti, Luca Cantarini, Bruno Frediani
Summary: In this study, ultrasound-guided corticosteroid sacroiliac joint injection was used to treat active sacroiliitis, and it was found to significantly reduce pain and maintain efficacy for up to 6 months.
JOURNAL OF ULTRASOUND
(2023)
