Buenos Aires, Argentina
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Haar N.T.,University Utrecht | Lachmann H.,University College London | Ozen S.,Hacettepe University | Woo P.,University College London | And 21 more authors.
Annals of the Rheumatic Diseases | Year: 2013

Objective: To evaluate the response to treatment of autoinflammatory diseases from an international registry and an up-to-date literature review. Methods: The response to treatment was studied in a webbased registry in which clinical information on anonymised patients with autoinflammatory diseases was collected retrospectively as part of the Eurofever initiative. Participating hospitals included paediatric rheumatology centres of the Paediatric Rheumatology International Trial Organisation network and adult centres with a specific interest in autoinflammatory diseases. The following diseases were included: familial Mediterranean fever (FMF), cryopyrinassociated periodic syndromes (CAPS), tumour necrosis factor (TNF)-receptor associated periodic syndrome (TRAPS), mevalonate kinase deficiency (MKD), pyogenic arthritis pustulosis acne (PAPA) syndrome, deficiency of interleukin-1 receptor antagonist (DIRA), NLRP12-related periodic fever and periodic fever aphthosis pharyngitis adenitis (PFAPA) syndrome. Cases were independently validated by experts for each disease. A literature search regarding treatment of the abovementioned diseases was also performed using Medline and Embase. Results: 22 months from the beginning of the enrolment, complete information on 496 validated patients was available. Data from the registry in combination with evidence from the literature confirmed that colchicine is the treatment of choice for FMF and IL-1 blockade for DIRA and CAPS. Corticosteroids on demand probably represent a valid therapeutic strategy for PFAPA, but also for MKD and TRAPS. Patients with poorly controlled MKD, TRAPS, PAPA or FMF may benefit from IL-1 blockade; anti-TNF treatment may represent a possible valuable alternative. Conclusions: In the absence of high-grade evidence, these results could serve as a basis for therapeutic guidelines and to identify candidate drugs for future therapeutic trials.


Conigliaro P.,Clinic of RheumatologyAllergology and Clinical Immunology | Perricone C.,Reumatologia | Triggianese P.,Clinic of RheumatologyAllergology and Clinical Immunology | Perricone R.,Clinic of RheumatologyAllergology and Clinical Immunology
Clinical and Experimental Immunology | Year: 2016

Rheumatoid arthritis (RA) is a systemic autoimmune disease resulting in chronic inflammation of the synovium and consequent cartilage and bone erosion. RA is associated strongly with the presence of rheumatoid factor (RF), and consists of clinical subsets of anti-citrullinated protein antibody (ACPA)-positive and -negative patients. This study was designed to evaluate whether relevant single nucleotide polymorphisms (SNPs) associated with RA and other autoimmune disorders are related to RF, ACPA and clinical phenotype in a cohort of biologic drugs naive Italian RA patients; 192 RA patients and 278 age-matched healthy controls were included. Clinical and laboratory data were registered. We analysed a total of 12 single nucleotide polymorphisms (SNPs) in signal transducer and activator of transcription-4 (STAT-4), interleukin (IL)-10, psoriasis susceptibility 1 candidate 1 (PSORS1C1), protein tyrosine phosphatase, non-receptor type 2 (PTPN2), endoplasmic reticulum aminopeptidase 1 (ERAP1), tumour necrosis factor receptor-associated 3 interacting protein 2 (TRAF3IP2) and microRNA 146a (MIR146A) genes by allelic discrimination assays. Case-control association studies and genotype/phenotype correlation analyses were performed. A higher risk to develop RA was observed for rs7574865 in the STAT-4 gene, while the rs1800872 in the IL-10 gene showed a protective effect. The presence of RF was associated significantly with rs1800872 variant in IL-10, while rs2910164 in MIR146A was protective. ACPA were associated significantly with rs7574865 in STAT-4. The SNP rs2233945 in the PSORS1C1 gene was protective regarding the presence of bone erosions, while rs2542151 in PTPN2 gene was associated with joint damage. Our results confirm that polymorphisms in STAT-4 and IL-10 genes confer susceptibility to RA. For the first time, we described that SNPs in PSORS1C1, PTPN2 and MIR146A genes were associated differently with a severe disease phenotype in terms of autoantibody status and radiographic damage in an Italian RA population. © 2016 British Society for Immunology.


Alegre De Miquel C.,Hospital Universitario Vall dHebron | Rodriguez De La Serna A.,Hospital Of La Santa Creu I Sant Pau | Huguet Codina R.,Institute Universitari Dexeus | Escola Campabadal A.,Reumatologia | Rossello Taberna I.,Colaboracion Data Suport
DOLOR | Year: 2011

We know the prevalence of neck pain in the general population between 40-80%, but we lack the neck osteoarthritis. Chronic neck pain (not specifically arthritic) shows a high prevalence-year and a high comorbidity with other diseases and physical and mental disorders. our objective was to determine the degree of satisfaction of patients with neck osteoarthritis to assess the efficiency of the proposed treatment. We analyzed all patients who attended four different rheumatology. The consultations sought to cover all areas of care in rheumatology: private, concerted and public, inpatient and outpatient basis. EVA was measured 100 mm and the impact of this pain to perform activities of daily life by validated Spanish version of self-questionary The Northwick Park Neck Questionnaire (NPQ) 8. The number of patients during the study period was from 1,543 visits, an average of 70 visits a day, of which 10.9% were patients with cervical osteoarthritis of 6 or more months. only 26.1% of patients with cervical osteoarthritis showed generalized osteoarthritis. osteoporosis occurred in 14.5% and depressive disorders (6.1%) and anxiety (3%). The degree of cervical osteoarthritis is related to the average level of pain expressed by the patient (VAS) and lesser extent with the quality of life. Thus 85.6% of residents reported problems with reading and watching television, to 82.3% of patients were increased neck pain with work, reporting a 37.8% limited in their work. We assessed whether there was a relationship between the degree of osteoarthritis and clinical examination data, presenting some relationship with flexion, right rotation and left rotation but not extension. Cervicoarthrosis is a highly prevalent in our consultation, physical examination is not sufficient to assess ADl disability in the patient being inadequate treatments currently used to control symptoms.


Villalta D.,Allergologia e Immunologia Clinica | Lauriti C.,Reumatologia | Gabini M.,Reumatologia | Turi M.C.,University of Chieti Pescara | Bizzaro N.,Laboratorio Of Patologia Clinica
Autoimmunity Reviews | Year: 2012

Systemic sclerosis (SSc) is a heterogeneous autoimmune disorder characterized by microvascular injury, fibrosis of the skin and other organs, and presence of antinuclear autoantibodies (ANA) with a prevalence varying from 80 to 98%. The ANA classically detected in SSc include anti-centromere (ACA) and anti-topoisomerase I (ATA), which are positive in 50-60% of the patients. Even if other autoantibodies, such as anti-fibrillarin (AFA), anti-RNA polymerase III (RNAP III), anti-PMScl, anti-Th/To, and anti-hUF/NOR-90, are almost specific for SSc, until recently they were not routinely looked for, since the techniques for their identification were not suitable for routine use. In recent years, the advances in the knowledge of the biochemistry and of the immunoreactive sites of the autoantigens led to the development of new immunoassays using recombinant proteins as autoantigens. We evaluated a new multiplex line immunoblot assay (LIA) for the simultaneous detection of 13 different SSc-associated autoantibodies, in a cohort of 210 SSc Italian patients. The sensitivity and the specificity of this assay were as follows: 30.5% and 97.3% for ACA (anti-CENP-B), 29.5% and 96% for ACA (anti-CENP-A), 20% and 99.3% for ATA, 5.7% and 99.3% for anti-RNAP III (RP-155), 5.2% and 100% for anti-RNP III (RP-11), 6.7% and 98% for anti-PMScl (PMScl-100), 10.9% and 93.3% for anti-PMScl (PMscl-75), 3.3% and 98.7% for anti-Th/To, 0.48% and 100% for AFA, 4.8% and 96.7% for anti-hUF/NOR-90, 4.7% and 96% for anti-Ku, 0.95% and 100% for anti-Platelet-Derived Growth Factor Receptor, and 18.1% and 50% for anti-Ro-52, respectively. These results, which are similar to those obtained in other studies using traditional techniques, show that the LIA assay can be considered a more rapid and a more practical method than immunoprecipitation assays for studying SSc-related antibodies in the diagnostic work-up of SSc patients. © 2012 Elsevier B.V.


Lachmann H.J.,University College London | Papa R.,Instituto Giannina Gaslini | Gerhold K.,Charité - Medical University of Berlin | Obici L.,Biotechnology Research Laboratories | And 21 more authors.
Annals of the Rheumatic Diseases | Year: 2014

Objective: To evaluate the genetic findings, demographic features and clinical presentation of tumour necrosis factor receptor-associated autoinflammatory syndrome (TRAPS) in patients from the Eurofever/EUROTRAPS international registry. Methods: A web-based registry collected retrospective data on patients with TNFRSF1A sequence variants and inflammatory symptoms. Participating hospitals included paediatric rheumatology centres and adult centres with a specific interest in autoinflammatory diseases. Cases were independently validated by experts in the disease. Results: Complete information on 158 validated patients was available. The most common TNFRSF1A variant was R92Q (34% of cases), followed by T50M (10%). Cysteine residues were disrupted in 27% of cases, accounting for 39% of sequence variants. A family history was present in 19% of patients with R92Q and 64% of those with other variants. The median age at which symptoms began was 4.3 years but 9.1% of patients presented after 30 years of age. Attacks were recurrent in 88% and the commonest features associated with the pathogenic variants were fever (88%), limb pain (85%), abdominal pain (74%), rash (63%) and eye manifestations (45%). Disease associated with R92Q presented slightly later at a median of 5.7 years with significantly less rash or eye signs and more headaches. Children were more likely than adults to present with lymphadenopathy, periorbital oedema and abdominal pains. AA amyloidosis has developed in 16 (10%) patients at a median age of 43 years. Conclusions: In this, the largest reported case series to date, the genetic heterogeneity of TRAPS is accompanied by a variable phenotype at presentation. Patients had a median 70 symptomatic days a year, with fever, limb and abdominal pain and rash the commonest symptoms. Overall, there is little evidence of a significant effect of age or genotype on disease features at presentation. © 2014, BMJ Publishing Group. All rights reserved.


PubMed | Azienda Ospedaliera Universitaria Citta della Salute e della Science di Turin, University of Pavia, Santa Chiara Hospital, Reumatologia and 5 more.
Type: | Journal: Clinical rheumatology | Year: 2017

According to international recommendations, the selection of the biologic disease modifying anti-rheumatic drug (bDMARD) for rheumatoid arthritis (RA) is mainly left to the clinicians preference. We analyzed the real-life factors influencing the first-line choice or the switching strategy, focusing on the prescription of abatacept (ABA) or tocilizumab (TCZ) compared to TNF inhibitors (TNFi). Patients enrolled in the Lombardy Rheumatology Network (LORHEN) Registry after January 1, 2010, when all considered bDMARD agents were available, were included. The population was divided into first- and second-line bDMARD. We included 1910 patients (first line n=1264, second line n=646). Age was higher in ABA or TCZ vs TNFi treated patients (p<0.0001). Positive latent tuberculosis screening was associated with first-line ABA (p=0.002). Methotrexate (MTX) combination therapy was lower in the TCZ group (p=0.02). The type (dyslipidemia, hypertension, pulmonary disease) and the number of comorbidities influenced the choice towards ABA (p=0.01). Multinomial logistic regression demonstrated that a second-line treatment, higher age, dyslipidemia, pulmonary disease, other comorbidities, and extra-articular RA manifestations were associated with ABA compared to TNFi. TCZ was associated with a second-line treatment, higher age, and more severe disease activity. Stopping the first bDMARD due to adverse events (AE) influenced the choice towards ABA. In real life, higher age and comorbidities influence the choice towards ABA and TCZ compared to TNFi. ABA was preferred in case of suspension of previous treatments due to AE. After failing a first-line TNFi, swapping to a different mechanism of action is more common.


PubMed | University of Padua, Italy8University of Genoa, National and Kapodistrian University of Athens, University of Turin and 3 more.
Type: Journal Article | Journal: JAMA | Year: 2016

Anakinra, an interleukin 1 recombinant receptor antagonist, may have potential to treat colchicine-resistant and corticosteroid-dependent recurrent pericarditis.To determine the efficacy of anakinra for colchicine-resistant and corticosteroid-dependent recurrent pericarditis.The Anakinra-Treatment of Recurrent Idiopathic Pericarditis (AIRTRIP) double-blind, placebo-controlled, randomized withdrawal trial (open label with anakinra followed by a double-blind withdrawal step with anakinra or placebo until recurrent pericarditis occurred) conducted among 21 consecutive patients enrolled at 3 Italian referral centers between June and November 2014 (end of follow-up, October 2015). Included patients had recurrent pericarditis (with 3 previous recurrences), elevation of C-reactive protein, colchicine resistance, and corticosteroid dependence.Anakinra was administered at 2 mg/kg per day, up to 100 mg, for 2 months, then patients who responded with resolution of pericarditis were randomized to continue anakinra (n=11) or switch to placebo (n=10) for 6 months or until a pericarditis recurrence.The primary outcomes were recurrent pericarditis and time to recurrence after randomization.Eleven patients (7 female) randomized to anakinra had a mean age of 46.5 (SD, 16.3) years; 10 patients (7 female) randomized to placebo had a mean age of 44 (SD, 12.5) years. All patients were followed up for 12 months. Median follow-up was 14 (range, 12-17) months. Recurrent pericarditis occurred in 9 of 10 patients (90%; incidence rate, 2.06% of patients per year) assigned to placebo and 2 of 11 patients (18.2%; incidence rate, 0.11% of patients per year) assigned to anakinra, for an incidence rate difference of -1.95% (95% CI, -3.3% to -0.6%). Median flare-free survival (time to flare) was 72 (interquartile range, 64-150) days after randomization in the placebo group and was not reached in the anakinra group (P<.001). During anakinra treatment, 20 of 21 patients (95.2%) experienced transient local skin reactions: 1 (4.8%) herpes zoster, 3 (14.3%) transaminase elevation, and 1 (4.8%) ischemic optic neuropathy. No patient permanently discontinued the active drug. No adverse events occurred during placebo treatment.In this preliminary study of patients with recurrent pericarditis with colchicine resistance and corticosteroid dependence, the use of anakinra compared with placebo reduced the risk of recurrence over a median of 14 months. Larger studies are needed to replicate these findings as well as to assess safety and longer-term efficacy.clinicaltrials.gov Identifier: NCT02219828.


de Almeida L.P.,Servico de Reumatologia | Scrignoli J.A.,Servico de Reumatologia | Penedo C.T.,Clinica Medica | Neves A.C.,Clinica Medica | And 2 more authors.
Acta Reumatologica Portuguesa | Year: 2010

Renal tubular acidosis is a rare disease that can present in a primary, resulting from genetic defects in transport mechanisms of the renal tubules, or secondary, consequent to systemic diseases or drugs. The authors report a case of a patient with renal tubular acidosis type II who developed bilateral femoral fracture secondary to severe osteomalacia, with the intention of highlighting the importance of understanding this disease since the late diagnosis and treatment may generate serious repercussions for the patient.


PubMed | Reumatologia
Type: Journal Article | Journal: Best practice & research. Clinical rheumatology | Year: 2012

Successful pregnancy is considered a Th1-Th2 cooperation phenomenon (Th, T-helper), with a predominantly Th2-type lymphocytes response, together with the emerging role of interleukin (IL)-12, IL-15 and IL-18 and of other unidentified soluble factors dependent on natural killer (NK) cells. In the pathogenesis of recurrent spontaneous abortion (RSA), immunological factors have been involved such as decidual cells, complement system, cytokines and genes of the hystocompatibility complex that can determine the success or the failure of a pregnancy. A deeper insight into apparently unexplained RSA shows increasing evidences supporting both alloimmune and autoimmune mechanisms, with autoantibodies playing a major role. The best-characterised pathogenic autoantibodies are anti-phospholipid antibodies, and also other autoantibodies, such as anti-Ro/SSA and anti-La/SSB, have been found to be associated with an increased rate of abortion, poor pregnancy outcome and several other obstetric manifestations. This intriguing mixture has been unveiled only in the last few years with the discovery of novel pathogenic mechanisms that can be targeted in the prevention and treatment of obstetrical complications occurring in the course of an autoimmune disease.


PubMed | Reumatologia
Type: Journal Article | Journal: Rheumatology international | Year: 2015

To determine the prevalence of and associated factors to work instability (WI) in rheumatoid arthritis (RA) Argentinean patients. Observational cross-sectional study that assessing employment status in currently working RA patients. They answered the validated version of RA work instability scale (RA-WIS). High-risk WI was considered when RA-WIS was 17. Factors associated with high-risk WI were examined by univariable and multivariable analysis. Four-hundred and fifty RA patients were enrolled; of these, 205 patients were currently employed, but only 172 have completed questionnaires required [RA-WIS and health assessment questionnaire (HAQ-A)]. Their mean age was 49.3 10.8 years; 81.3 % were female; and their mean disease duration was 8.1 7.2 years. Fifty-two percent of patients were doing manual work. The mean RA-WIS score was 11.4 6.8, and 41 % of patients had a high-risk WI. High-risk WI was associated with radiographic erosions (p < 0.001) and HAQ-A >0.87 (p < 0.001) in the univariable analysis, whereas in the multivariable logistic regression analysis the variables associated with a high-risk WI were as follows: HAQ-A >0.87 [odds ratio (OR) 12.31; 95 % CI 5.38-28.18] and the presence of radiographic erosions (OR 4.848; 95 % CI 2.22-10.5). In this model, having a higher monthly income (OR 0.301; 95 % CI 0.096-0.943) and a better functional class (OR 0.151; 95 % CI 0.036-0.632) were protective. Forty-one percent of RA working patients had high-risk WI. The predictors of high RA-WIS were HAQ-A 0.87 and radiographic erosions, whereas having a better functional class and have higher incomes were protective.

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