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Risultati 11 - 20 di 866 (tempo di esecuzione: 0.067 secondi).
Titolo Data di pubblicazione Autore(i) File
540 IDENTIFICATION OF LAMIVUDINE RESISTANT HBV STRAIN RT204V/I IN ACUTE HEPATITIS B IN ITALY 1-gen-2012 Coppola, Nicola; Tonziello, G.; Colombatto, P.; Pisaturo, M.; Messina, V.; Moriconi, F.; Alessio, L.; Sagnelli, Caterina; Cavallone, D.; Brunetto, M.; Sagnelli, E.
7. (2011). Exome sequencing approach to define the complex genetic substrate in a family with insulin resistance, left ventricular noncompaction (LVNC) and congenital fiber type disproportion (CFTD). In: XLII Congress of the Italian Neurological Society. NEUROLOGICAL SCIENCES, p. S285, ISSN: 1590-1874, Torino, 22-25 novembre, 2011 1-gen-2011 Esposito, T; Formicola, D; Magliocca, S; Gianfrancesco, F; Simonetti, M; Farina, O; Cipullo, F; Samapolo, S; DI IORIO, Giuseppe
733 REACTIVATION OF OVERT AND OCCULT HBV INFECTION IN IMMUNOSUPPRESSIVE SETTINGS Journal of Hepatology 1-gen-2010 Coppola, N.; Tonziello, G.; Pisaturo, M.; Fiore, M.; Iodice, V.; Guastrafierro, S.; Sagnelli, Caterina; e. t. a., L.
8-year prospective clinical evaluation of posterior 3-unit zirconia-based FDPs 1-gen-2013 R., Sorrentino; S., Russo; R., Leone; S., Leuci; Apicella, Antonio; F., Zarone
[Gimigliano F, Moretti A, Lazzarini SG, Arienti C, Ceravolo MG, Kiekens C, Negrini S]. [The Cochrane Rehabilitation Ebook Project: a knowledge translation initiative]. In: Advances in Evidence Synthesis: special issue. Cochrane Database of Systematic Reviews 2020;(9 Suppl 1):[99] https://doi.org/10.1002/14651858.CD202001 1-gen-2020 Gimigliano, F; Moretti, A; Lazzarini, Sg; Arienti, C; Ceravolo, Mg; Kiekens, C; Negrini, S
[OP0219] EUROPEAN SCLERODERMA STUDY GROUP (ESCSG) ACTIVITY INDEX IS CORRELATED TO QUALITY OF LIFE MEASURES BOTH AT ADMISSION AND OVERTIME M. Iudici, G. Cuomo, G. Abignano, G. Valentini. Rheumatology Unit, Second University of Naples, Naples, Italy Objectives: EScSG activity index has been validated for construct validity [1]. Its discriminant validity awaits to be investigated. In order to address this aspect, we investigated the relationship between the activity index and Health Assessment Questionnaire-Disability Index, physical and mental component scores (PCS and MCS) of Short Form-36 (SF36). Methods: 140 SSc patients consecutively admitted at tertiary center were investigated for EScSG activity index, HAQ-DI and PCS and MCS of SF36 at enrolment and after 1 year. The change (Δ) for each of the all measures was calculated. Results: EScSG activity index was found to be correlated to HAQ-DI, PCS and MCS both at admission (Rho=0.49, p=0.0003; Rho= -0.40, p<0.0001; Rho= -0.29, p=0.001, respectively) and after 1 year (Rho=0,64, p<0,0001; Rho= -0.29, p=0.001; Rho=-0.18, p=0.046 respectively). Moreover, the change between the value of the activity index at 1 year and that at admission (Δ activity index) was significantly correlated to ΔHAQ-DI, ΔPCS, ΔMCS (Rho=0,43, p=0.002; Rho=0,56, p<0.0001; Rho=0.48, p=0.002, respectively). Conclusion: HAQ-DI and SF36 (PCS and MCS) are considered to be validated outcome measure in SSc. Our results further support the construct validity of EScSG activity index and are for the first time underline its discriminant validity. References: • Valentini G. et al. European Scleroderma Study Group to define disease activity criteria for systemic sclerosis. III. Assessment of the construct validity of the preliminary activity criteria. Ann Rheum Dis 2003. Disclosure of Interest: None declared Citation: Ann Rheum Dis 2010;69(Suppl3):128 Session: Abstract Session: Modern prespective in systemic sclerosis 1-gen-2010 Iudici, M.; Cuomo, Giovanna; Abignano, G.; Valentini, 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. .
[THU0309] CLINICAL MANIFESTATIONS IN LATE VS EARLY –ONSET SYSTEMIC SCLEROSIS (SSC) G. Cuomo, M. Iudici, G. Abignano, G. Valentini. Second Universty of Naples, Rheumatology Unit, Naples, Italy Background: Differences have been so far pointed out in the clinical manifestations and disease course in patients with a number of autoimmune rheumatic diseases and different age at onset (1-3). Objectives: To investigate the occurrence of differences between early and late onset SSc. Methods: 260 SSc patients (233 females) with a median age at the onset of the disease of 40.5 years (range 8-74) were consecutively admitted to a tertiary centre from November 1st 2000 to October 31st 2008. They were divided into 2 groups: early onset (<40.5 years) and late onset (≥40.5 years). Differences in each of the epidemiological, clinical and serological aspects collected in all the patients at admission were analysed. Results: Table 1 lists the significant differences detected between the 2 groups. Early onset patients were found to have a longer disease duration at presentation, a higher prevalence of anti-Scl70 positivity and a higher prevalence of scleroderma renal crisis; a lower prevalence of antinucleolar antibody positivity; a lower percentage of pulmonary hypertension; a lower HAQ-DI and a lower prevalence of heart involvement. No difference was detected in clinical subset distribution. Late onset (138) Early onset (122) p Disease duration mean (sd) 6 (6) 10 (10) 0.003 Range (median) 0.5-26 (5) 0.5-45 (6) Serological subset Scl70 43 54 0.04 Nucleolar 9 23 0.004 PAPs ≥40mmHG (echocardiography) 14/124 3/119 0.01 HAQ-DI mean (sd) 0.65 (0.7) 0.5 (0.7) 0.037 Range (median) 0-0.275 (0.375) 0-0.25 (0.125) Severity scale Late onset (138) Early onset(122) p 0-1 2-3-4 0-1 2-3-4 Heart 117 21 121 1 <0.0001 Kidney 138 0 117 5 0.02 Conclusion: Our study demonstrate that similarly to systemic lupus erithematosus and rheumatoid arthritis, distinct differences related to age at onset also occur in SSc patients. References: • Calvo-Alen J. et al, Clin Rheumatol 2005 • Lalani S. et al, J Rheumatol 2010 • Ho CT et al, Ann Rheum 1998 Disclosure of Interest: None declared Citation: Ann Rheum Dis 2010;69(Suppl3):247 Session: Scleroderma, Myositis and related syndromes 1-gen-2010 Cuomo, Giovanna; Iudici, M.; Abignano, G.; Valentini, G.
A case of Kohlmeier-Degos disease with dramatic neurological involvment 1-gen-2017 Saracino, D; D'Armiento, Fp; Napolitano, M; Ayala, F; Di Iorio, G; Puoti, G
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