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FEATURES AND LONGITUDINAL ANALYSIS OF SYSTEMIC SCLEROSIS PATIENTS WITH INAPPROPRIATE EXERCISE-INDUCED INCREASE IN PULMONARY ARTERY PRESSURE ESTIMATED BY ECHOCARDIOGRAPHY 1-gen-2012 Codullo, V.; Caporali, R.; Cuomo, Giovanna; D'Alto, M.; Pazzano, A. S.; Camporotondo, R.; Fusetti, C.; Borgogno, E.; Montecucco, ; G., Valentini
ARTHRALGIAS ARE PREDICTIVE FACTORS OF FOOT INVOLVEMENT EVALUATED BY ULTRASONOGRAPHY IN PATIENTS WITH SYSTEMIC SCLEROSIS: A PROSPECTIVE STUDY 1-gen-2012 Cuomo, Giovanna; Irace, R.; Frongillo, M. E.; Pirro, L.; Castronuovo, G.; Abignano, G.
[SAT0013] CANDIDATE GENE STUDY IN SYSTEMIC SCLEROSIS IDENTIFIES A RARE AND FUNCTIONAL VARIANT OF TNFAIP3 LOCUS AS A RISK FACTOR FOR INDIVIDUAL POLYAUTOIMMUNITY E. Koumakis1,2, M. Giraud2, P. Dieudé3, G. Cuomo4, P. Airo5, G. Chiocchia2, Y. Allanore1,2, and GENESYS Consortium. 1Paris Descartes University, Rheumatology A Department, Cochin Hospital; 2INSERM U1016, Institut Cochin, Sorbonne Paris Cité; 3Paris Diderot university, Rheumatology Department, Hôpital Bichat-Claude-Bernard, Paris, France; 4Rheumatology Section, Department of Clinical and Experimental Medicine, Second University of Naples, Naples; 5Rheumatology and Clinical Immunology, Spedali Civili, Brescia, Italy Background: Systemic lupus erythematosus (SLE) and systemic sclerosis (SSc) share some physiopathologic bases as supported by individual and familial polyautoimmunity and common susceptibility genetic factors. For the latter, there is a recent shift from the "common variant" to the "rare variant" paradigm, inasmuch as rare variants of TNFAIP3 and TREX1 with large effect size have recently been uncovered in SLE. Objectives: To investigate whether rare variants of TREX1 and TNFAIP3 are associated with SSc. Methods: TREX1 lupus-associated single-nucleotide polymorphisms (SNPs) rs3135946, rs7626978, rs3135943, rs11797 and TNFAIP3 rs9494883, rs72063345, rs5029939, rs2230926, rs117480515, rs7749323, together with the functional TT>-A dinucleotide variant located 41.5kb downstream of the TNFAIP3 promoter (1), were genotyped in a French "discovery" set consisting of 985 SSc and 1011 controls. The most relevant results were replicated in a second set consisting of Italian individuals (622 SSc and 493 controls). Expression of TNFAIP3 mRNA by peripheral blood mononuclear cells was assessed by quantitative real-time PCR using Taqman methodology in 38 SSc patients and 33 unaffected French donors genotyped for TNFAIP3 variants. Results: No association between any TREX1 variant and SSc or sub-phenotypes was observed. For TNFAIP3, we first observed that a low-frequency variant, rs117480515, tagged the TT>-A SLE dinucleotide polymorphism recently identified and that is highly suspected to be the causal variant (1). In the discovery sample, we observed that all tested TNFAIP3 variants were in linkage disequilibrium and were associated with SSc and various subsets including the polyautoimmune phenotype (i.e. SSc patients having at least one co-existing autoimmune disease, N=150, Padj=5.32×10-5, OR=3.94, [95%CI 2.25-6.90]). The rs117480515 SNP was subsequently genotyped in the replication sample. The allelic association with SSc was replicated solely for patients with the polyautoimmune phenotype, providing the following results in the combined French and Italian populations: Padj=8.58×10-9, OR=3.51, [95%CI 2.28-5.41]. Genotype-mRNA expression correlations revealed that the TNFAIP3 rs117480515 risk allele was associated with decreased TNFAIP3 mRNA expression (p=0.02). Conclusions: Our results establish the TNFAIP3 locus as susceptibility factor for the subset of SSc patients with a polyautoimmune phenotype and highlight the critical role of NFkB antagonist A20 in shared autoimmunity. It also supports the implication of rare/low-frequency functional variants in the genetic susceptibility to complex autoimmune diseases. The lack of association with the TREX1 locus in this study strengthens the knowledge that while some genetic loci may confer susceptibility to several autoimmune phenotypes, other genes may be restricted to specific diseases. References: Adrianto I et al. Association of a functional variant downstream of TNFAIP3 with systemic lupus erythematosus. Nat Genet 2011;43:253-8. Disclosure of Interest: None Declared Citation: Ann Rheum Dis 2012;71(Suppl3):475 Session: Genomics, genetics and epigenetics of rheumatic diseases 1-gen-2012 Koumakis, E.; Giraud, M.; Dieudé, P.; Cuomo, Giovanna; Airo, P.; Chiocchia, G.; Allanore, Y.
[SAT0516] MEGACAPILLARIES AS DETECTED BY NAILFOLD VIDEOCAPILLAROSCOPY IN A COHORT OF PATIENTS WITH ACROCYANOSIS R. Irace, G. Cuomo, L. Pirro, G. Valentini. Department of Internal Medicine “F. Magrassi- A. Lanzara”, Rheumatology Section, Naples, Italy Background: Patients with acrocyanosis are known to display a capillaroscopic pattern characterised by normal/mild reduction of capillary density, microhemorrhages, asymmetrical capillary ectasias with greater width of venular loop and capillary thrombosis (1). At the best of our knowledge, one small series study only as so far reported the occurrence of megacapillaries (i.e. giant capillary: homogeneously enlarged loops with a diameter >50µm) in patients with acrocyanosis (2). Objectives: To investigate the presence of megacapillaries in a cohort of patients with acrocyanosis Methods: We enrolled 71 consecutive patients attending the Videocapillaroscopy Outpatient clinicof the Second University of Naples from 1st January 2011 to 1st June 2012 (median age 45 years, range 18-70) diagnosed to have acrocyanosis (i.e. persistent, symmetrical and painful cyanosis of extremities, triggered by cold, often associated to hyperhidrosis) and 35 control patients affected by osteoarthritis. Nailfold videocapillaroscopy was carried out with optical probes of 200X (VideoCap 2.5). Results: Megacapillaries (maximal loop width 80 µm) were detected in 14 out of 71 patients (19%). In 12 and 2 patients a mean score of 1 (less than 4 megacapillaries / mm) and of 2 (≥4 megacapillaries ≤ 6 / mm) was registered, respectively. In all patients the capillaroscopic alterations already described in patients with acrocyanosis were found : mild reduction of capillary density (mean capillary number 7±1/mm), asymmetrical capillary ectasias with greater width of venular loop, microhemorrhages, capillary thrombosis. In controls rare ectasias were the only capillaroscopic alterations detected. Conclusions: Our study confirms the possible occurrence of megacapillaries in a larger cohort of patients with acrocyanosis. It suggests the need of a careful clinical approach in order to make differential diagnosis between acrocyanosis and Raynaud's Phenomenon. The patients enrolled will be prospectically followed-up to assess the changes of capillaroscopic scores overtime. References: Kurklinsky et al. Vasc Med 2011 16(4):288-301 Monticone et a J Am Acad Dermatol 2000; 42:787-90 Davis E. Adv Microcirc 1982 ;10:101-119 Disclosure of Interest: None Declared Citation: Ann Rheum Dis 2013;72(Suppl3):756 Session: Diagnostics and imaging procedures 1-gen-2013 Irace, R.; Cuomo, Giovanna; Pirro, L.; Valentini, G. .
CARDIAC BLOCKS IN SYSTEMIC SCLEROSIS: PREVALENCE AND ASSOCIATED FEATURES IN THE EUSTAR COHORT 1-gen-2013 Cuomo, Giovanna; Vettori, Serena; M., Iudici; U., Mueller Ladner; C., Denton; L., Czirják; Y., Allanore; O., Distler; G., Riemekaisten; G., Valentini
PREVALENCE OF MONOCLONAL GAMMOPATHY OF UNDETERMINED SIGNIFICANCE (MGUS) IN SYSTEMIC SCLEROSIS: REPORT FROM TWO ITALIAN CENTERS 1-gen-2013 Ughi, N.; Ingegnoli, F.; Irac, R.; Zeni, S.; Cuomo, Giovanna
FRI0522 Peripheral Blood Mononuclear Cells Co-Cultured with Autologous Skin Fibroblasts Up-Regulate IL-17A and Play Anti-Fibrotic Effects in Systemic Sclerosis 1-gen-2014 Vettori, Serena; Pasquale, G.; Iudici, M.; Cuomo, Giovanna; Russo, B.; Barra, G.; DE PALMA, Raffaele; Valentini, G.
FRI0446 Severe Heart Disease in Systemic Sclerosis: Prevalence, Risk Factors and Current Treatment. A Eustar-Desscipher Study 1-gen-2015 Vettori, Serena; Cuomo, Giovanna; Jaeger, V. K.; Frerix, M.; Siegert, E.; Lorand, V.; Jordan, S.; Riemekasten, G.; Allanore, Y.; Czirjak, L.; Tarner, I. H.; Distler, O.; Denton, C. P.; Matucci Cerinic, M.; Del Galdo, F.; Walker, U. A.; Mueller Ladner, U.; Valentini, G.
SAT0057 The Conversion Rate of Tubercolosis Screening Tests During Biological Therapies in Patients with Rheumatoid Arthritis 1-gen-2015 Cuomo, Giovanna; D'Abrosca, V.; Russo, B.; Valentini, G.
Effectiveness and safety of mycophenolate mofetil in the treatment of interstitial lung disease in patients with systemic sclerosis 1-gen-2009 Cuomo, Giovanna; G., Abignano; M., Iudici; A., Petrillo; G., Valentini
SAT0057 Low Mortality Rate in A Cohort of Rheumatoid Arthritis Patients from South Italy 1-gen-2016 Iacono, D.; Cuomo, Giovanna; D'Abrosca, V.; Pantano, I.; Valentini, G.
SAT0181 CXCL4 Is Not A Biomarker in Rheumatoid Arthritis Patients Treated with Abatacept and Tocilizumab 1-gen-2016 D'Abrosca, V.; Vettori, Serena; Cuomo, Giovanna; Iacono, D.; Valentini, G.
RAPPORTO TRA QUALITÀ DEL SONNO E DOLORE CRONICO IN PAZIENTI CHE ACCEDONO PER LA PRIMA VOLTA AD UN AMBULATORIO SPECIALISTICO DI REUMATOLOGIA R. Ferrara, D. Capocotta, R. Tirri 1-gen-2016 Tirri, Rosella; Capocotta, Domenico; Ferrara, Roberta
IPERSONNOLENZA IN PAZIENTI CON MALATTIE REUMATICHE COMUNEMENTE ASSOCIATE A DOLORE D. Capocotta, R. Ferrara, R. Tirri 1-gen-2016 Tirri, Rosella; Capocotta, Domenico; Ferrara, Roberta
GOTTA: EVOLUZIONE NON CONTROLLATA NELL’ERA DELL’APPROCCIO “TREAT TO TARGET SERUM URATE” 1-gen-2016 Tirri, Rosella; Capocotta, Domenico
The relationship among pain sleep disorders and smoke in patients who assess for the first time in a Rheumatology Unit 1-gen-2016 Tirri, Rosella
RELATIONSHIP OF THE 6-MIN WALKING TEST AND QUALITY OF LIFE 1-gen-2012 Cuomo, Giovanna; Valentini, Gabriele
Uratensin-II receptor: A new diagnostic marker and therapeutic target in human prostate adenocarinoma 1-gen-2007 Grieco, P; Caraglia, Michele; Addeo, Sr; Budillon, A; Franco, Renato; Marra, M; Molinari, A; Campiglia, P; Novellino, E.
The brain transcription factor OTX1 is activated in specific non-hodgkin lymphoma subtypes and normally expressed in a germinal center-restricted small subpopulation of CD138(+) plasmacell-like cells 1-gen-2007 Russo, F; Omodiei, D; Acampora, D; De Filippi, R; Severino, V; Di Francia, R; Frigeri, F; Mancuso, P; De Chiafa, A; Franco, Renato; Casola, S; Pinto, A; Simeone, A; Casola, S.
Role of CXCR4 in melanoma: A prognostic factor and a new target of therapy 1-gen-2006 Napolitano, M; Scala, S; Giuliano, P; Mauro, F; Ierano, C; Ascierto, Pa; Ottaiano, A; Franco, Renato; Simeone, E; Lombardi, Ml; Luongo, M; Botti, G; Castello, G.
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Tipologia
  • 1 Contributo su Rivista2294
  • 4 Contributo in Atti di Convegno ...1
Autore
  • LIMONGELLI, Giuseppe147
  • UTILI, Riccardo143
  • IOLASCON, Giovanni120
  • GALDERISI, Silvana113
  • FEDERICO, Alessandro94
  • MUCCI, Armida93
  • GIMIGLIANO, Francesca81
  • ADINOLFI, Luigi Elio76
  • MORETTI, Antimo62
  • RUSSO, Maria Giovanna61
Data di pubblicazione
  • 2020 - 2026113
  • 2010 - 2019848
  • 2000 - 2009875
  • 1990 - 1999366
  • 1980 - 198980
  • 1974 - 197913
Editore
  • Centauro5
  • Società Botanica Italiana3
  • Benedetti E. & Pedone C. (Eds.), ...1
  • CENTAURO editore1
  • Centauro srl Edizioni Scientifiche1
  • EUROPEAN RESPIRATORY SOC JOURNALS...1
  • Geological Survey of Austria1
  • Grafica Nappa1
  • Idelson-Gnocchi1
  • Viegas D. X.1
Rivista
  • EUROPEAN PSYCHIATRY124
  • ANNALS OF THE RHEUMATIC DISEASES71
  • DIGESTIVE AND LIVER DISEASE55
  • ITALIAN HEART JOURNAL46
  • JOURNAL OF HEPATOLOGY46
  • GEOPHYSICAL RESEARCH ABSTRACTS39
  • RIVISTA DI NEURORADIOLOGIA35
  • HEPATOLOGY33
  • PFLÜGERS ARCHIV33
  • INTERNAL AND EMERGENCY MEDICINE32
Keyword
  • dental materials8
  • androgen receptor4
  • composite4
  • LC-MS4
  • Systemic Sclerosis4
  • concorso3
  • Cytokines3
  • Fibroblasts3
  • Finite element analysis3
  • Mass spectrometry3
Lingua
  • eng1379
  • ita282
  • ger5
  • fre2
  • spa1
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