ERN ReCONNET

Rare connective tissue and musculoskeletal diseases (rCTDs) comprise a large number of diseases and syndromes, with a tremendous impact on patient well-being. These include hereditary conditions, and systemic autoimmune diseases such as systemic sclerosis, mixed connective tissue diseases, inflammatory idiopathic myopathies, undifferentiated connective tissue diseases, and anti-phospholipid syndrome. Delayed diagnosis, particularly for rare or complex presentations, is a common problem.

This network groups rCTDs into three main thematic groups: rare autoimmune, complex autoimmune, and rare hereditary connective tissue and musculoskeletal diseases.

ReCONNET aims to improve early diagnosis, patient management, care delivery and virtual discussion of clinical cases within the network and with affiliated centres. The use of information technologies (IT) will facilitate interaction between centres. The network will improve scientific knowledge of rCTDs and facilitate the creation of large databases to identify new clinical or biological markers to aid diagnosis.

Educational programmes for patients and families will be developed and disseminated, and new guidelines and quality measures will be implemented. Improved therapeutic protocols and greater patient involvement are also priorities.

Contact information

Publications

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Below an overview is given of scientific publications related to ERN ReCONNET. Publications were obtained from the PubMed database. All publications where one of the authors has an affiliation link where "ERN ReCONNET" is mentioned, are added to the publication overview automatically. Updates are performed once a week.

Filter list publications

TitleAuthorsDateKeywordsIssue name
A protocol for scoping reviews on the role of whole-body and dedicated body-part magnetic resonance imaging for assessment of adult and juvenile idiopathic inflammatory myopathies.Essouma M, de Araujo DB, Day J, Conticini E, Riopel MA, Elias AM, Paula VT, Omori CH, Guimarães JB, Gibson D, Saad-Magalhaes C, Appenzeller S, Schiffenbauer A, Machado PM, Feldman BM, Paik JJ, Christopher-Stine L, Rider LG, Reed A, van der Kooi AJ, Marrani E, Naddaf E, Kirkhus E, Sanner H, Bauer-Ventura I, Lilleker JB, Gupta L, Lucchini M, Dimachkie MM, Tolend M, Arabi TMA, Moghadam-Kia S, O'Hanlon S, Phaneuf S, Shinjo SK, Doria AS2024-07-08Assessment, Damage, Idiopathic inflammatory myopathy, Magnetic resonance imaging, MyositisRheumatology international
A genome-wide association study suggests new susceptibility loci for primary antiphospholipid syndrome.Casares-Marfil D, Martínez-Bueno M, Borghi MO, Pons-Estel G, Reales G, Zuo Y, Espinosa G, Radstake T, van den Hoogen LL, Wallace C, Guthridge J, James JA, Cervera R, Luigi Meroni P, Martin J, Knight JS, Alarcón-Riquelme ME, Sawalha AH2024-07-08Arthritis & rheumatology (Hoboken, N.J.)
Uveitis as predictor of disease flare after the first anti-TNF withdrawal in oligoarticular and polyarticular juvenile idiopathic arthritis: a multicentric Italian experience.Maccora I, Accardo V, Cattalini M, Pagnini I, Taddio A, Marrani E, La Torre F, Mastrolia MV, Bellicini I, Pastore S, Simonini G2024-07-04Clinical and experimental rheumatology
Pathological autoantibody internalisation in myositis.Pinal-Fernandez I, Muñoz-Braceras S, Casal-Dominguez M, Pak K, Torres-Ruiz J, Musai J, Dell'Orso S, Naz F, Islam S, Gutierrez-Cruz G, Cano MD, Matas-Garcia A, Padrosa J, Tobias-Baraja E, Garrabou G, Aldecoa I, Espinosa G, Simeon-Aznar CP, Guillen-Del-Castillo A, Gil-Vila A, Trallero-Araguás E, Christopher-Stine L, Lloyd TE, Liewluck T, Naddaf E, Stenzel W, Greenberg SA, Grau JM, Selva-O'Callaghan A, Milisenda JC, Mammen AL2024-06-20Antibodies, Autoantibodies, Dermatomyositis, PolymyositisAnnals of the rheumatic diseases
Drug-induced lupus erythematosus in childhood: Case-based review.Maniscalco V, Mollo A, Mastrolia MV, Maccora I, Pagnini I, Simonini G, Marrani E2024-06-20Lupus
The outcomes of children born to mothers with autoimmune rheumatic diseases.Andreoli L, Andersen J, Avcin T, Chambers CD, Fazzi EM, Marlow N, Wulffraat NM, Tincani A2024-06-11The Lancet. Rheumatology
Biosimilars in childhood chronic rheumatic diseases: friend or foe?Maccora I, Simonini G2024-06-03The Lancet. Rheumatology
Extracorporeal Membrane Oxygenation for Acute Lung Injury in Idiopathic Inflammatory Myopathies-A Potential Lifesaving Intervention.Zheng B, Eline E, Xu L, Huang K, Hermans G, Perch M, Samoukovic G, De Langhe E, Dastmalchi M, Christopher-Stine L, Diederichsen LP, Leclair V2024-05-25Anti-MDA5 antibody, Dermatomyositis, Extracorporeal membrane oxygenation, Lung transplantation, Rapid progressive interstitial lung diseaseRheumatology (Oxford, England)
Management of pregnancy in autoimmune rheumatic diseases: maternal disease course, gestational and neonatal outcomes and use of medications in the prospectiveItalian P-RHEUM.it study.Andreoli L, Gerardi MC, Gerosa M, Rozza D, Crisafulli F, Erra R, Lini D, Trespidi L, Padovan M, Ruffilli F, Serale F, Cuomo G, Raffeiner B, Semeraro P, Tani C, Chimenti MS, Conigliaro P, Hoxha A, Nalli C, Fredi M, Lazzaroni MG, Filippini M, Taglietti M, Franceschini F, Zatti S, Loardi C, Orabona R, Ramazzotto F, Zanardini C, Fontana G, Gozzoli G, Barison C, Bizioli P, Caporali RF, Carrea G, Ossola MW, Maranini B, Silvagni E, Govoni M, Morano D, Verteramo R, Doria A, Del Ross T, Favaro M, Calligaro A, Tonello M, Larosa M, Zen M, Zambon A, Mosca M, Zucchi D, Elefante E, Gori S, Iannone F, Anelli MG, Lavista M, Abbruzzese A, Fasano CG, D'Angelo S, Cutro MS, Picerno V, Carbone T, Padula AA, Rovere-Querini P, Canti V, De Lorenzo R, Cavallo L, Ramoni V, Montecucco C, Codullo V, Milanesi A, Pazzola G, Comitini G, Marvisi C, Salvarani C, Epis OM, Benedetti S, Di Raimondo G, Gagliardi C, Lomater C, Crepaldi G, Bellis E, Bellisai F, Garcia Gonzalez E, Pata AP, Zerbinati M, Urban ML, Mattioli I, Iuliano A, Sebastiani G, Brucato AL, Bizzi E, Cutolo M, Santo L, Tonetta S, Landolfi G, Carrara G, Bortoluzzi A, Scirè CA, Tincani A2024-04-24antirheumatic agents, arthritis, autoimmune diseases, connective tissue diseases, systemic vasculitisRMD open
Thrombotic manifestations in pediatric Behcet syndrome: A multicenter comparative study from the EUROFEVER registry.Mastrolia MV, Matucci-Cerinic C, Ozen S, Kasapcopur O, Gaggiano C, Koné-Paut I, Cantarini L, Dusser P, Kaya-Akça Ü, Yildiz M, Brunner J, Filocamo G, Gallizzi R, Insalaco A, Pastore S, Rigante D, Sanchez-Manubens J, Tsitsami E, Ruperto N, Gattorno M, Simonini G2024-04-23Behçet syndrome, Child, ThrombosisSeminars in arthritis and rheumatism
Prevalence and clinical features of chronic uveitis in pediatric inflammatory bowel diseases: A nationwide study.Maniscalco V, Scarallo L, Aloi M, Alvisi P, Norsa L, Zuin G, Simonini G, Lionetti P2024-04-09Crohn's disease, Extraintestinal manifestations, inflammatory bowel diseases (IBD), ulcerative colitisJournal of pediatric gastroenterology and nutrition
Setting the Bar Differently: How to Navigate Old And New Sets of Criteria for the Classification of Antiphospholipid Syndrome.Tincani A, Andreoli L2024-04-05Rheumatology (Oxford, England)
Clinical images: Calabar swelling caused by Loa loa mimicking polyarthritis.Jannot X, Gerber V, Hallynck X, Willaume T, Mertz P2024-04-02Rheumatology (Oxford, England)
Severe A(H1N1)pdm09 influenza acute encephalopathy outbreak in children in Tuscany, Italy, December 2023 to January 2024.Bartolini L, Ricci S, Azzari C, Moriondo M, Nieddu F, L'Erario M, Ricci Z, Simonini G, Mortilla M, Indolfi G, Montagnani C, Chiappini E, Galli L, Guerrini R2024-04-01Children, Encephalopathy, H1N1, Italy, Neurological, air-borne infections, clinic, influenza, influenza virus, vaccines and immunisation, viral infectionsEuro surveillance : bulletin Europeen sur les maladies transmissibles = European communicable disease bulletin
Neurodevelopmental profile in children born to mothers affected by systemic sclerosis.Galli J, Loi E, Lazzaroni MG, Molinaro A, Andreoli L, Bendoni M, Moschetti L, Pedretti E, Visconti LM, Airò P, Franceschini F, Tincani A, Fazzi E2024-04-01Children, Neurodevelopment, Offspring, Rheumatic diseases, Systemic sclerosisEarly human development
Phenotypes in antiphospholipid syndrome: A hierarchical cluster analysis based on two independent databases.Taieb D, Moyon Q, Lhote R, Annesi-Maesano I, Haroche J, Cervera R, Amoura Z, Cohen Aubart F2024-04-01Antiphospholipid, Phenotypes, Stroke, ThrombosisJournal of autoimmunity
Best clinical practice in the treatment of juvenile systemic sclerosis: expert panel guidance - the result of the International Hamburg Consensus Meeting December 2022.Foeldvari I, Torok KS, Antón J, Blakley M, Constantin T, Cutolo M, Denton CP, Fligelstone K, Hinrichs B, Li SC, Maillard S, Marrani E, Moinzadeh P, Orteu CH, Pain CE, Pauling JD, Pilkington C, Rosser F, Smith V, Furst DF2024-04-01gastrointestinal involvement, juvenile systemic sclerosis, musculoskeletal involvement, physical therapy, pulmonary involvement, skin involvement, treatment recommendations, vascular involvementExpert review of clinical immunology
Convergence and divergence in Kawasaki disease and multisystem inflammatory syndrome in children: results from the COVASAKI survey.Mastrolia MV, Martini M, Memmini G, Ferrara G, Bernardini R, Peroni D, Consolini R, Marrani E, Agostiniani R, Maccora I, Falorni S, Azzari C, Calabri GB, Pagnini I, Indolfi G, L'Erario M, Trapani S, Simonini G2024-04-01Clinical and experimental rheumatology
New proposal for a multimodal imaging approach for the subclinical detection of hydroxychloroquine-induced retinal toxicity in patients with systemic lupus erythematosus.Araújo O, Casaroli-Marano RP, Hernández-Rodríguez J, Figueras-Roca M, Budi V, Morató M, Hernández-Negrín H, Ríos J, Adan A, Espinosa G, Pelegrín L, Cervera R2024-03-18Imaging, RetinaBMJ open ophthalmology
Comment on: Achieving inactive disease in enthesitis-related arthritis with secukinumab following TNF-inhibitor failure.Maniscalco V, Pagnini I, Marrani E, Maccora I, Rumeileh SA, Mastrolia MV, Simonini G2024-03-09Rheumatology (Oxford, England)
Innovative cellular therapies for autoimmune diseases: expert-based position statement and clinical practice recommendations from the EBMT practice harmonization and guidelines committee.Greco R, Alexander T, Del Papa N, Müller F, Saccardi R, Sanchez-Guijo F, Schett G, Sharrack B, Snowden JA, Tarte K, Onida F, Sánchez-Ortega I, Burman J, Castilla Llorente C, Cervera R, Ciceri F, Doria A, Henes J, Lindsay J, Mackensen A, Muraro PA, Ricart E, Rovira M, Zuckerman T, Yakoub-Agha I, Farge D2024-03-01Autoimmune diseases, Chimeric antigen receptor (CAR) T cells, Mesenchymal stem cells, Regulatory T cellsEClinicalMedicine
The prevalence and incidence of thrombotic primary antiphospholipid syndrome in adults aged 18-49 years: A population-based study in a mountain community in northern Italy.Andreoli L, Nalli C, Raffetti E, Angeli F, Pascariello G, Zentilin A, Pedersoli F, Gasparotti C, Magoni M, Scarcella C, Martini G, Franceschini F, Donato F, Tincani A2024-03-01Antiphospholipid syndrome, Incidence, Myocardial infarction, Prevalence, Stroke, ThrombosisClinical immunology (Orlando, Fla.)
Raynaud phenomenon as an isolated manifestation of autoimmune/inflammatory syndrome induced by adjuvants (ASIA).Silva A, Vieira-Sousa E, Cruz-Machado AR2024-03-01Clinical and experimental rheumatology
Pregnancy in antiphospholipid syndrome: what should a rheumatologist know?Andreoli L, Regola F, Caproli A, Crisafulli F, Fredi M, Lazzaroni MG, Nalli C, Piantoni S, Zatti S, Franceschini F, Tincani A2024-02-06antiphospholipid antibodies, antiphospholipid syndrome, assisted reproduction technologies, counselling, heparin, hydroxychloroquine, low-dose acetylsalicylic acid, placental insufficiency, pregnancy, thrombosisRheumatology (Oxford, England)
What we know and what we don't know about catastrophic antiphospholipid syndrome.Rodriguez-Pintó I, Espinosa G, Cervera R2024-02-06anticoagulation, catastrophic antiphospholipid syndrome, cytokine storm, eculizumab, glucocorticoids, intravenous immunoglobulins, plasma exchange, rituximab, therapeutics, thrombotic microangiopathyRheumatology (Oxford, England)
Combination of old and new drugs to improve renal outcome in SLE patients.Espinosa G, Cervera R2024-02-01Rheumatology (Oxford, England)
Early anakinra treatment improves cardiac outcome of multisystem inflammatory syndrome in children, regardless of disease severity.Taddio A, Della Paolera S, Abbagnato L, Agrusti A, Badolato R, Biscaro F, Caorsi R, Consolaro A, Dellepiane RM, Fabi M, Floretta I, Gattorno M, Giangreco M, La Torre F, Maggio MC, Mambelli L, Mauro A, Mastrolia MV, Meneghel A, Montin D, Ricci F, Simonini G, Smarrazzo A, Sottile R, Stucchi S, Tardi M, Verdoni L, Zuccotti G, Zunica F, Ravelli A, Cattalini M2024-02-01MIS-C, SARS-CoV-2, anakinra, cardiac outcome, childrenRheumatology (Oxford, England)
"If I have Sjögren's syndrome, I want to know it as early as possible": The perspective of first-degree relatives of patients with Sjögren's syndrome from an international survey.Alunno A, Carubbi F, Ritschl V, Cornec D, Zenz S, Vieira A, Antonopoulou K, Chatzis L, Romão VC, Tzioufas A, Bandeira M, Stradner MH2024-01-28Autoimmune disease, Early diagnosis, First-degree relatives, Sjögren's syndrome, SurveyJoint bone spine
Pathogenic autoantibody internalization in myositis.Pinal-Fernandez I, Muñoz-Braceras S, Casal-Dominguez M, Pak K, Torres-Ruiz J, Musai J, Dell'Orso S, Naz F, Islam S, Gutierrez-Cruz G, Cano MD, Matas-Garcia A, Padrosa J, Tobías-Baraja E, Garrabou G, Aldecoa I, Espinosa G, Simeon-Aznar CP, Guillen-Del-Castillo A, Gil-Vila A, Trallero-Araguas E, Christopher-Stine L, Lloyd TE, Liewluck T, Naddaf E, Stenzel W, Greenberg SA, Grau JM, Selva-O'Callaghan A, Milisenda JC, Mammen AL2024-01-17Myositis, RNA-sequencing, autoantibodies, dermatomyositis, immune-mediated necrotizing myositismedRxiv : the preprint server for health sciences
Childhood mixed connective tissue disease at disease onset: Evidence from a systematic review.Terminiello A, Marrani E, Pagnini I, Maccora I, Maniscalco V, Rumeileh SA, Mastrolia MV, Simonini G2024-01-06Dermatomyositis, Juvenile idiopathic arthritis, Lupus erythematosus, systemic, Mixed connective tissue disease, Pediatric onset, Systemic sclerosisAutoimmunity reviews
Maternal and perinatal outcomes in pregnant women with rheumatic diseases treated with biosimilar TNF inhibitors.Chícharo AT, Lopes AR, Barreira S, Pinto L, Cruz-Machado AR, Capela S2024-01-01Rheumatology advances in practice
Deciphering the clinical significance of longitudinal antiphospholipid antibody titers.Chighizola CB, Willis R, Maioli G, Sciascia S, Andreoli L, Amengual O, Radin M, Gerosa M, Atsumi T, de Jesus G, Trespidi L, Branch DW, Caporali R, Andrade D, Roubey R, Petri M, Bertolaccini ML2024-01-01Antibody titers, Antiphospholipid antibodies, Follow-up, Longitudinal, Seroconversion, ThrombosisAutoimmunity reviews
Might maintenance therapy be discontinued once clinical remission is achieved in ANCA-associated vasculitis?Roccatello D, Padoan R, Sciascia S, Iorio L, Nic An Ríogh E, Little MA2024-01-01ANCA vasculitis, Maintenance therapy, rituximab, Off therapy, Relapse, Stopping therapyAutoimmunity reviews
Thrombocytopenia in antiphospholipid syndrome: Is anticoagulation and/or antiaggregation always required?Zuily S, Cervera R, Foret T, Bertocchi S, Tincani A2024-01-01Anticoagulants, Antiphospholipid antibodies, Antiphospholipid syndrome, Aspirin, Lupus anticoagulant, ThrombocytopeniaAutoimmunity reviews
Imatinib-induced dermatomyositis sine dermatitis - a rare case report.Silva A, Romão VC, Campanilho-Marques R2024-01-01autoantibodies, dermatomyositis sine dermatitis, imatinib mesylate, inflammatory myopathies, proximal muscle weaknessFrontiers in immunology
Pulmonary involvement in catastrophic antiphospholipid syndrome: A descriptive analysis from the "CAPS Registry".Ponce A, Rodríguez-Pintó I, Espinosa G, Quintas H, Erkan D, Shoenfeld Y, Cervera R2023-12-01Alveolar hemorrhage, Antiphospholipid syndrome, Catastrophic antiphospholipid syndrome, Pulmonary capillaritis, Systemic lupus erythematosus, Thrombotic microangiopathySeminars in arthritis and rheumatism
Rapidly progressive erosions and ulcerations in a patient with cancer-associated anti-TIF-1γ/α and anti-U1 RNP-positive dermatomyositis: A case report.Rosseels W, Vulsteke JB, Bosisio F, Satoh M, De Langhe E, De Haes P2023-12-01Journal of the European Academy of Dermatology and Venereology : JEADV
Proposed Response Parameters for Twelve-Month Drug Trial in Juvenile Systemic Sclerosis: Results of the Hamburg International Consensus Meetings.Foeldvari I, Torok KS, Anton J, Blakley M, Constantin T, Curran M, Cutolo M, Denton C, Fligelstone K, Ingegnoli F, Li SC, Němcová D, Orteu C, Pilkington C, Smith V, Stevens A, Klotsche J, Khanna D, Costa-Reis P, Del Galdo F, Hinrichs B, Kasapcopur O, Pain C, Ruperto N, Zheng A, Furst DE2023-12-01Arthritis care & research
Clinical Syndromes Related to SARS-CoV-2 Infection and Vaccination in Pediatric Age: A Narrative Review.Mastrolia MV, De Cillia C, Orlandi M, Abu-Rumeileh S, Maccora I, Maniscalco V, Marrani E, Pagnini I, Simonini G2023-11-17COVID-19, MIS-C, childhood, myocarditis, vaccinationMedicina (Kaunas, Lithuania)
Laser Flare Photometry to Monitor Childhood Chronic Uveitis: A Preliminary Report of a Monocentric Italian Experience.Maccora I, De Libero C, Peri M, Danti G, Rossi A, Marrani E, Pasqualetti R, Pagnini I, Mastrolia MV, Simonini G2023-10-11children, eye, juvenile idiopathic arthritis, laser flare photometry, uveitisDiagnostics (Basel, Switzerland)
Systemic sclerosis and primary biliary cholangitis: Longitudinal data to determine the outcomes.Lepri G, Airò P, Distler O, Andréasson K, Braun-Moscovici Y, Hachulla E, Balbir-Gurman A, De Langhe E, Rednic S, Ingegnoli F, Rosato E, Groseanu L, Ionescu R, Bellando-Randone S, Garzanova L, Beretta L, Bellocchi C, Moiseev S, Novikov P, Szabo I, Krasowska D, Codullo V, Walker UA, Manolaraki C, Guiducci S, Truchetet ME, Iannone F, Tofani L, Bruni C, Smith V, Cuomo G, Krusche M, Matucci-Cerinic M, Allanore Y2023-10-01Systemic sclerosis, autoimmunity, fibrotic diseases, outcomes, overlap syndrome, primary biliary cholangitisJournal of scleroderma and related disorders
Lung involvement in juvenile idiopathic inflammatory myopathy: A systematic review.Abu-Rumeileh S, Marrani E, Maniscalco V, Maccora I, Pagnini I, Mastrolia MV, Rouster-Stevens K, Simonini G2023-10-01Interstitial lung disease, Juvenile myositis, Pediatric rheumatology, PulmonaryAutoimmunity reviews
Feasibility of Conducting Comparative Effectiveness Research and Validation of a Clinical Disease Activity Score for Chronic Nonbacterial Osteomyelitis.Wu EY, Oliver M, Scheck J, Lapidus S, Akca UK, Yasin S, Stern SM, Insalaco A, Pardeo M, Simonini G, Marrani E, Wang X, Huang B, Kovalick LK, Rosenwasser N, Casselman G, Liau A, Shao Y, Yang C, Mosa DM, Tucker L, Girschick H, Laxer RM, Akikusa JD, Hedrich CM, Onel K, Dedeoglu F, Twilt M, Ferguson PJ, Ozen S, Zhao Y2023-10-01chronic nonbacterial osteomyelitis, chronic recurrent multifocal osteomyelitis, clinical disease activity score, comparative effectiveness research, consensus treatment plansThe Journal of rheumatology
Rheumatoid vasculitis in 2023: Changes and challenges since the biologics era.Mertz P, Wollenschlaeger C, Chasset F, Dima A, Arnaud L2023-09-01Biotherapies, Rheumatoid arthritis, Rheumatoid vasculitis, VasculitisAutoimmunity reviews
Autoantibodies against the NineTeen complex and U5 RNP in systemic sclerosis.Vulsteke JB, Smith V, Bonroy C, Lenaerts JL, Derua R, Wuyts WA, Blockmans D, De Haes P, Piette Y, De Langhe E, Bossuyt X2023-09-01Journal of autoimmunity
[The Cannulation of the Arteriovenous Fistula in the Presence of a Stent: Precautions, Risks, and Possibilities].Cecere P, Forneris G, Savio D, Agostinucci A, Pozzato M, Comelli C, Roccatello D2023-08-31arteriovenous fistula, cannulation, stent, stentgraftGiornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia
Focal segmental glomerular sclerosis can be effectively treated using an intensive B-cell depletion therapy.Roccatello D, Baffa A, Naretto C, Barreca A, Cravero R, Roscini E, Sciascia S, Fenoglio R2023-08-01cyclophosphamide, focal segmental glomerulosclerosis, glucocorticoids, renal biopsy, rituximabClinical kidney journal
Detection of anti-eIF2B autoantibodies in systemic sclerosis by immunoprecipitation-mass spectrometry.Vulsteke JB, Coutant F, Goncalves D, Nespola B, De Haes P, Wuyts WA, Blockmans D, De Langhe E, Fabien N, Bossuyt X2023-07-05Rheumatology (Oxford, England)
Therapeutic potential of JAK inhibitors in juvenile idiopathic arthritis-associated uveitis.Maccora I, Land P, Miraldi Utz V, Angeles-Han ST2023-07-01Baricitinib, JAK-inhibitor, JIA, Uveitis, pediatric uveitis, tofacitinib, treatment, upadacitinibExpert review of clinical immunology
Mortality and causes of death in systemic lupus erythematosus revisited.Barilaro G, Cervera R2023-06-01European journal of internal medicine
Challenges and management of childhood noninfectious chronic uveitis.Maccora I, Marrani E, Pagnini I, Mastrolia MV, de Libero C, Caputo R, Simonini G2023-06-01AS-OCT, Adalimumab, Anti-TNF, JAK-inhibitors, JIA, Tocilizumab, Uveitis, childrenExpert review of clinical immunology
Splenomegaly in Kawasaki Disease: A Pitfall in Diagnosis.Miselli F, Mastrolia MV, Simonini G, Trapani S, Calabri GB2023-06-01differential diagnosis, macrophage activation syndromeThe Journal of pediatrics
Kikuchi-Fujimoto disease complicated with hemophagocytic lymphohistiocytosis.Scarcella A, Marrani E, Coniglio ML, Simonini G, Sieni E2023-06-01HLH, Hemophagocytic lymphohistiocytosis, Kikuchi-Fujimoto, UNC13DPediatric blood & cancer
A wide spectrum of phenotype of deficiency of deaminase 2 (DADA2): a systematic literature review.Maccora I, Maniscalco V, Campani S, Carrera S, Abbati G, Marrani E, Mastrolia MV, Simonini G2023-05-13Autoinflammatory disease, DADA2, Deficiency of adenosine deaminase 2, Humoral immunodeficiency, Panarteritis nodosa, Stroke, Systematic review, VasculitisOrphanet journal of rare diseases
Anti-IL17 treatment in childhood chronic rheumatic diseases.Maniscalco V, Maccora I, Girodo F, Tomaselli M, Priolo G, Marrani E, Mastrolia MV, Pagnini I, Simonini G2023-05-01Behçet’s syndrome, IL17 inhibitors, SAPHO syndrome, biologic therapy, children, ixekizumab, juvenile idiopathic arthritis, noninfectious uveitis, secukinumabExpert opinion on biological therapy
The hallux patch: A new cutaneous sign of anti-MDA5-positive dermatomyositis?Vulsteke JB, De Langhe E, De Haes P2023-04-05Journal of the European Academy of Dermatology and Venereology : JEADV
Thrombotic Events in MIS-C Patients: A Single Case Report and Literature Review.Maniscalco V, Niccolai R, Marrani E, Maccora I, Bertini F, Pagnini I, Simonini G, Lasagni D, Trapani S, Mastrolia MV2023-03-25MIS-C, disability, heparin, prophylaxis, thrombosisChildren (Basel, Switzerland)
Frail Silk: Is the Hughes-Stovin Syndrome a Behçet Syndrome Subtype with Aneurysm-Involved Gene Variants?Manole S, Rancea R, Vulturar R, Simon SP, Molnar A, Damian L2023-02-05Behçet syndrome, Hughes-Stovin syndrome, MYLK, myosin light chain kinase, personalized medicine, pulmonary artery aneurysm, thoracic aortic aneurysms and dissections, vascular clusterInternational journal of molecular sciences
Identification of new telomere- and telomerase-associated autoantigens in systemic sclerosis.Vulsteke JB, Smith V, Bonroy C, Derua R, Blockmans D, De Haes P, Vanderschueren S, Lenaerts JL, Claeys KG, Wuyts WA, Verschueren P, Vanhandsaeme G, Piette Y, De Langhe E, Bossuyt X2023-02-01Autoantibodies, Mass spectrometry, Systemic sclerosis, Telomerase, TelomereJournal of autoimmunity
Publisher Correction: The impact of COVID-19 on rare and complex connective tissue diseases: the experience of ERN ReCONNET.Talarico R, Aguilera S, Alexander T, Amoura Z, Antunes AM, Arnaud L, Avcin T, Beretta L, Bombardieri S, Burmester GR, Cannizzo S, Cavagna L, Chaigne B, Cornet A, Costedoat-Chalumeau N, Doria A, Ferraris A, Fischer-Betz R, Fonseca JE, Frank C, Gaglioti A, Galetti I, Grunert J, Guimarães V, Hachulla E, Houssiau F, Iaccarino L, Krieg T, Limper M, Malfait F, Mariette X, Marinello D, Martin T, Matthews L, Matucci-Cerinic M, Meyer A, Montecucco C, Mouthon L, Müller-Ladner U, Rednic S, Romão VC, Schneider M, Smith V, Sulli A, Tamirou F, Taruscio D, Taulaigo AV, Terol E, Tincani A, Ticciati S, Turchetti G, van Hagen PM, van Laar JM, Vieira A, de Vries-Bouwstra JK, Cutolo M, Mosca M2022-12-01Nature reviews. Rheumatology
Fatigue is independently associated with disease activity assessed using the Physician Global Assessment but not the SLEDAI in patients with systemic lupus erythematosus.Mertz P, Piga M, Chessa E, Amoura Z, Voll RE, Schwarting A, Maurier F, Blaison G, Bonnotte B, Poindron V, Fiehn C, Lorenz HM, Korganow AS, Sibilia J, Martin T, Arnaud L2022-09-01Disease Activity, Epidemiology, Systemic Lupus ErythematosusRMD open
Recognizing the new disorder "idiopathic hypocryoglobulinaemia" in patients with previously unidentified clinical conditions.Roccatello D, Sciascia S, Naretto C, Barreca A, Solfietti L, Battaglia L, Viziello L, Fenoglio R, Rossi D2022-09-01Scientific reports
An ultrasonographic insight into musculoskeletal manifestation in 100 systemic lupus erythematosus patients.Popov IH, Pamfil C, Tămaș MM, Onea TN, Felea I, Hălbac A, Rednic N, Rednic S2022-09-01Clinical and experimental rheumatology
Inclusion Body Myositis and Neoplasia: A Narrative Review.Damian L, Login CC, Solomon C, Belizna C, Encica S, Urian L, Jurcut C, Stancu B, Vulturar R2022-07-01antibodies to the cytosolic 5′-nucleotidase 1A (anti-cN1A), autophagy, cancer, inclusion body myositis, interferon γ, large granular lymphocytes leukemia (LGLL), lymphocyte exhaustion, lymphocyte senescence, mitochondria, paraneoplasticInternational journal of molecular sciences
One Molecule for Mental Nourishment and More: Glucose Transporter Type 1-Biology and Deficiency Syndrome.Vulturar R, Chiș A, Pintilie S, Farcaș IM, Botezatu A, Login CC, Sitar-Taut AV, Orasan OH, Stan A, Lazea C, Al-Khzouz C, Mager M, Vințan MA, Manole S, Damian L2022-05-26Glut1, SLC2A1, cognitive impairment, epilepsy, flow cytometry, glucose uptake, inborn errors of metabolism, inflammation, ketogenic diet, movement disordersBiomedicines
Rare clinical manifestations in systemic lupus erythematosus: a review on frequency and clinical presentation.Tani C, Elefante E, Arnaud L, Barreira SC, Bulina I, Cavagna L, Costedoat-Chalumeau N, Doria A, Fonseca JE, Franceschini F, Fredi M, Iaccarino L, Limper M, Majnik J, Nagy G, Pamfil C, Rednic S, Reynolds JA, Tektonidou MG, Troldborg A, Zanframundo G, Mosca M2022-05-01Clinical and experimental rheumatology
Sjögren's syndrome and other rare and complex connective tissue diseases: an intriguing liaison.Baldini C, Arnaud L, Avčin T, Beretta L, Bellocchi C, Bouillot C, Burmester GR, Cavagna L, Cutolo M, de Vries-Bouwstra JK, Doria A, Ferro F, Fonseca JE, Fonzetti S, Fulvio G, Galetti I, Gottenberg JE, Hachulla E, Krieg T, La Rocca G, Martin T, Matucci-Cerinic M, Moinzadeh P, Montecucco C, Mosca M, Mouthon L, Müller-Ladner U, Rednic S, Smith V, Talarico R, van Laar JM, Vieira A, Romão VC, Mariette X2022-05-01Clinical and experimental rheumatology
The added value of a European Reference Network on rare and complex connective tissue and musculoskeletal diseases: insights after the first 5 years of the ERN ReCONNET.Talarico R, Aguilera S, Alexander T, Amoura Z, Andersen J, Arnaud L, Avcin T, Marsal Barril S, Beretta L, Bombardieri S, Bortoluzzi A, Bouillot C, Bulina I, Burmester GR, Cannizzo S, Cavagna L, Chaigne B, Cornet A, Corti P, Costedoat-Chalumeau N, Dāvidsone Z, Doria A, Fenech C, Ferraris A, Fischer-Betz R, Fonseca JE, Frank C, Gaglioti A, Galetti I, Guimarães V, Hachulla E, Holmner M, Houssiau F, Iaccarino L, Jacobsen S, Limper M, Malfait F, Mariette X, Marinello D, Martin T, Matthews L, Matucci-Cerinic M, Meyer A, Milas-Ahić J, Moinzadeh P, Montecucco C, Mouthon L, Müller-Ladner U, Nagy G, Patarata E, Pileckyte M, Pruunsild C, Rednic S, Romão VC, Schneider M, Scirè CA, Smith V, Sulli A, Tamirou F, Tani C, Taruscio D, Taulaigo AV, Tincani A, Ticciati S, Turchetti G, van Hagen PM, van Laar JM, Viera A, de Vries-Bouwstra JK, Zschocke J, Cutolo M, Mosca M2022-05-01Clinical and experimental rheumatology
Off-label use of mycophenolate mofetil in the treatment of rare and complex rheumatic connective tissue diseases.Bandeira M, Vieira A, Guimarães V, Bento T, Amoura Z, Arnaud L, Beretta L, Cere A, Chehab G, Hachulla E, Milas-Ahić J, Müller-Ladner U, Nagy G, Piette Y, Rednic S, Schneider M, Smith V, Cutolo M, Fonseca JE, Romão VC2022-05-01Clinical and experimental rheumatology
Association of common variable immunodeficiency and rare and complex connective tissue and musculoskeletal diseases. A systematic literature review.Mucke J, Cornet A, Witte T, Schneider M2022-05-01Clinical and experimental rheumatology
Respiratory failure due to concomitant interstitial lung disease and diaphragmatic involvement in a patient with anti-MDA5 dermatomyositis: a case report.Grignaschi S, Mongodi S, Alfonsi E, Mojoli F, Vertui V, Zanframundo G, Cavagna L2022-05-01Clinical and experimental rheumatology
Capillary leak syndrome in a patient with cancer-associated anti-transcriptional intermediary factor 1γ dermatomyositis treated with rituximab.Palermo BL, Bottazzi F, Dourado E, Codullo V, Civardi L, Zanframundo G, Cavagna L2022-05-01Clinical and experimental rheumatology
Hoarseness as the presentation of immunoglobulin G4-related disease with vocal cord and mediastinal infiltration.Dourado E, Martins AS, Fonseca JE2022-05-01Clinical and experimental rheumatology
Rheumatology residency in a European Reference Network on Rare and Complex Connective Tissue and Musculoskeletal Diseases centre: opportunities and challenges.Dourado E, Melo AT, Pacini G, Pankow A, Klemm P, Cruz-Machado AR2022-05-01Clinical and experimental rheumatology
Efficacy of intravenous immunoglobulin in shrinking lung syndrome associated with mixed connective tissue disease: a case report.Silvério-António M, Khmelinskii N, Fonseca JE2022-05-01Clinical and experimental rheumatology
Significance of Sjögren's syndrome and anti-cN1A antibody in myositis patients.Levy D, Nespola B, Giannini M, Felten R, Severac F, Varoquier C, Rinagel M, Korganow AS, Martin T, Poindron V, Maurier F, Chereih H, Bouldoires B, Hervier B, Lenormand C, Chatelus E, Geny B, Sibilia J, Arnaud L, Gottenberg JE, Meyer A2022-02-02Sjögren’s syndrome, anti-cN1A, anti-synthetase syndrome, dermatomyositis, inclusion body myositis, inflammatory myopathies, myositis, polymyositisRheumatology (Oxford, England)
Disease mechanisms in preclinical rheumatoid arthritis: A narrative review.Romão VC, Fonseca JE2022-01-01Pre-RA, etiology, pathogenesis, preclinical rheumatoid arthritis, rheumatoid arthritisFrontiers in medicine
Risk Factors for Infection, Predictors of Severe Disease, and Antibody Response to COVID-19 in Patients With Inflammatory Rheumatic Diseases in Portugal-A Multicenter, Nationwide Study.Cruz-Machado AR, Barreira SC, Bandeira M, Veldhoen M, Gomes A, Serrano M, Duarte C, Rato M, Miguel Fernandes B, Garcia S, Pinheiro F, Bernardes M, Madeira N, Miguel C, Torres R, Bento Silva A, Pestana J, Almeida D, Mazeda C, Cunha Santos F, Pinto P, Sousa M, Parente H, Sequeira G, Santos MJ, Fonseca JE, Romão VC2022-01-01COVID-19, SARS-CoV-2, antibody response, inflammatory rheumatic diseases, seroconversionFrontiers in medicine
Ten years of a systemic sclerosis clinic in a tertiary referral centre - insights and future directions.Martins P, Dourado E, Fonseca JE, Cordeiro I, Romão VC, Resende C2021-07-01Acta reumatologica portuguesa
Patterns of fatigue and association with disease activity and clinical manifestations in systemic lupus erythematosus.Arnaud L, Mertz P, Amoura Z, Voll RE, Schwarting A, Maurier F, Blaison G, Bonnotte B, Poindron V, Fiehn C, Lorenz HM, Korganow AS, Sibilia J, Martin T2021-06-18activity, anxiety, depression, fatigue, patient outcome assessment, systemic lupus erythematosusRheumatology (Oxford, England)
The impact of COVID-19 on rare and complex connective tissue diseases: the experience of ERN ReCONNET.Talarico R, Aguilera S, Alexander T, Amoura Z, Antunes AM, Arnaud L, Avcin T, Beretta L, Bombardieri S, Burmester GR, Cannizzo S, Cavagna L, Chaigne B, Cornet A, Costedoat-Chalumeau N, Doria A, Ferraris A, Fischer-Betz R, Fonseca JE, Frank C, Gaglioti A, Galetti I, Grunert J, Guimarães V, Hachulla E, Houssiau F, Iaccarino L, Krieg T, Limper M, Malfait F, Mariette X, Marinello D, Martin T, Matthews L, Matucci-Cerinic M, Meyer A, Montecucco C, Mouthon L, Müller-Ladner U, Rednic S, Romão VC, Schneider M, Smith V, Sulli A, Tamirou F, Taruscio D, Taulaigo AV, Terol E, Tincani A, Ticciati S, Turchetti G, van Hagen PM, van Laar JM, Vieira A, de Vries-Bouwstra JK, Cutolo M, Mosca M2021-03-01Nature reviews. Rheumatology
Etiology and Risk Factors for Rheumatoid Arthritis: A State-of-the-Art Review.Romão VC, Fonseca JE2021-01-01etiology, pathogenesis, pre-RA, pre-rheumatoid arthritis, rheumatoid arthritis, risk factorsFrontiers in medicine
Functional Progression in Patients with Interstitial Lung Disease Resulted Positive to Antisynthetase Antibodies: A Multicenter, Retrospective Analysis.Dei G, Rebora P, Catalano M, Sebastiani M, Faverio P, Pozzi MR, Manfredi A, Cameli P, Salton F, Salvarani C, Cavagna L, Confalonieri M, Bargagli E, Luppi F, Pesci A2020-09-21anti-Jo-1 antibodies, antisynthetase syndrome, autoantibodies antisynthetase, interstitial lung disease, lung function, no anti-Jo-1 antibodiesJournal of clinical medicine
Influence of MUC5B gene on antisynthetase syndrome.López-Mejías R, Remuzgo-Martínez S, Genre F, Pulito-Cueto V, Rozas SMF, Llorca J, Fernández DI, Cuesta VMM, Ortego-Centeno N, Gómez NP, Mera-Varela A, Martínez-Barrio J, López-Longo FJ, Mijares V, Lera-Gómez L, Usetti MP, Laporta R, Pérez V, Gafas AP, González MAA, Calvo-Alén J, Romero-Bueno F, Sanchez-Pernaute O, Nuno L, Bonilla G, Balsa A, Hernández-González F, Grafia I, Prieto-González S, Narvaez J, Trallero-Araguas E, Selva-O'Callaghan A, Gualillo O, Castañeda S, Cavagna L, Cifrian JM, González-Gay MA2020-01-29Scientific reports
Influence of Antisynthetase Antibodies Specificities on Antisynthetase Syndrome Clinical Spectrum Time Course.Cavagna L, Trallero-Araguás E, Meloni F, Cavazzana I, Rojas-Serrano J, Feist E, Zanframundo G, Morandi V, Meyer A, Pereira da Silva JA, Matos Costa CJ, Molberg O, Andersson H, Codullo V, Mosca M, Barsotti S, Neri R, Scirè C, Govoni M, Furini F, Lopez-Longo FJ, Martinez-Barrio J, Schneider U, Lorenz HM, Doria A, Ghirardello A, Ortego-Centeno N, Confalonieri M, Tomietto P, Pipitone N, Rodriguez Cambron AB, Blázquez Cañamero MÁ, Voll RE, Wendel S, Scarpato S, Maurier F, Limonta M, Colombelli P, Giannini M, Geny B, Arrigoni E, Bravi E, Migliorini P, Mathieu A, Piga M, Drott U, Delbrueck C, Bauhammer J, Cagnotto G, Vancheri C, Sambataro G, De Langhe E, Sainaghi PP, Monti C, Gigli Berzolari F, Romano M, Bonella F, Specker C, Schwarting A, Villa Blanco I, Selmi C, Ceribelli A, Nuno L, Mera-Varela A, Perez Gomez N, Fusaro E, Parisi S, Sinigaglia L, Del Papa N, Benucci M, Cimmino MA, Riccieri V, Conti F, Sebastiani GD, Iuliano A, Emmi G, Cammelli D, Sebastiani M, Manfredi A, Bachiller-Corral J, Sifuentes Giraldo WA, Paolazzi G, Saketkoo LA, Giorgi R, Salaffi F, Cifrian J, Caporali R, Locatelli F, Marchioni E, Pesci A, Dei G, Pozzi MR, Claudia L, Distler J, Knitza J, Schett G, Iannone F, Fornaro M, Franceschini F, Quartuccio L, Gerli R, Bartoloni E, Bellando Randone S, Zampogna G, Gonzalez Perez MI, Mejia M, Vicente E, Triantafyllias K, Lopez-Mejias R, Matucci-Cerinic M, Selva-O'Callaghan A, Castañeda S, Montecucco C, Gonzalez-Gay MA2019-11-18antisynthetase antibodies, antisynthetase syndrome, arthritis, interstitial lung disease, myositisJournal of clinical medicine
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Last update: July 13th, 2024 on 01:30