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Stefano Bombardieri - One of the best experts on this subject based on the ideXlab platform.

  • the diagnosis and classification of mixed Connective Tissue Disease
    Journal of Autoimmunity, 2014
    Co-Authors: Chiara Tani, Marta Mosca, L Carli, S Vagnani, Rosaria Talarico, Chiara Baldini, Stefano Bombardieri
    Abstract:

    The term "mixed Connective Tissue Disease" (MCTD) concerns a systemic autoimmune Disease typified by overlapping features between two or more systemic autoimmune Diseases and the presence of antibodies against the U1 small nuclear ribonucleoprotein autoantigen (U1snRNP). Since the first description of this condition in 1972, the understanding of clinical manifestations and long-term outcome of MCTD have significantly advanced. Polyarthritis, Raynaud's phenomenon, puffy fingers, lung involvement and esophageal dysmotility are the most frequently reported symptoms among the different cohorts during the course of the Disease. Moreover, in recent years a growing interest has been focused on severe organ involvement such as pulmonary arterial hypertension and interstitial lung Disease which can accrue during the long-term follow-up and can still significantly influence Disease prognosis. Over the last years, significant advances have been made also in Disease pathogenesis understanding and a central pathogenetic role of anti-U1RNP autoantibodies has clearly emerged. Although controversies on Disease definition and classification still persist, MCTD identifies a group of patients in whom increased surveillance for specific manifestations and prognostic stratification became mandatory to improve patient's outcomes.

  • A case of undifferentiated Connective Tissue Disease: is it a distinct clinical entity?
    Nature clinical practice. Rheumatology, 2008
    Co-Authors: Marta Mosca, Chiara Tani, Stefano Bombardieri
    Abstract:

    Undifferentiated Connective Tissue Disease is characterized by a mild clinical picture, with a low level of Disease activity during the entire Disease course, and by the absence of manifestations specific to any major Connective Tissue Disease. In this Case Study, Drs Mosca, Tani and Bombardieri present a case of stable undifferentiated Connective Tissue Disease and argue that this condition might constitute a distinct clinical entity.

Luke Howard - One of the best experts on this subject based on the ideXlab platform.

  • Connective Tissue Disease associated pulmonary arterial hypertension
    F1000 Medicine Reports, 2015
    Co-Authors: Robin Condliffe, Luke Howard
    Abstract:

    Although rare in its idiopathic form, pulmonary arterial hypertension (PAH) is not uncommon in association with various associated medical conditions, most notably Connective Tissue Disease (CTD). In particular, it develops in approximately 10% of patients with systemic sclerosis and so these patients are increasingly screened to enable early detection. The response of patients with systemic sclerosis to PAH-specific therapy appears to be worse than in other forms of PAH. Survival in systemic sclerosis-associated PAH is inferior to that observed in idiopathic PAH. Potential reasons for this include differences in age, the nature of the underlying pulmonary vasculopathy and the ability of the right ventricle to cope with increased afterload between patients with systemic sclerosis-associated PAH and idiopathic PAH, while coexisting cardiac and pulmonary Disease is common in systemic sclerosis-associated PAH. Other forms of Connective Tissue-associated PAH have been less well studied, however PAH associated with systemic lupus erythematosus (SLE) has a better prognosis than systemic sclerosis-associated PAH and likely responds to immunosuppression.

Xavier Bossuyt - One of the best experts on this subject based on the ideXlab platform.

  • screening for Connective Tissue Disease associated antibodies by automated immunoassay
    Clinical Chemistry and Laboratory Medicine, 2018
    Co-Authors: Philippe Willems, Ellen De Langhe, Jolien Claessens, Rene Westhovens, Erna Van Hoeyveld, Koen Poesen, Steven Vanderschueren, Daniel Engelbert Blockmans, Xavier Bossuyt
    Abstract:

    Background Antinuclear antibodies (ANAs) are useful for the diagnosis of ANA-associated systemic rheumatic Disease (AASRD). The objective of this study was the evaluation of an immunoassay that detects antibodies to a mixture of 17 antigens as an alternative to indirect immunofluorescence (IIF). Methods Nine thousand eight hundred and fifty-six consecutive patients tested for ANAs were tested by IIF and EliA Connective Tissue Disease screen (Thermo-Fisher). Medical records were reviewed for 2475 patients, including all patients that tested positive/equivocal by either test and a selection of 500 patients that tested negative. Results Concordance between IIF and EliA was 83.1%. AASRD was found in 12.8% of IIF-positive patients, 30.2% of EliA-positive patients and 0.4%, 46.6%, 5.8% and 3.0% of patients that tested, respectively, double negative, double positive, single positive for EliA and single positive for IIF. The association with AASRD increased with increasing antibody level. IIF and EliA were positive in, respectively, 90.4% and 69.9% of systemic lupus erythematosus (n=83), 100% and 84.1% of systemic sclerosis (n=63), 86.7% and 93.3% of Sjogren's syndrome (n=45), 88.2% and 52.9% of polymyositis/dermatomyositis (n=17), and in all cases of mixed Connective Tissue Disease (n=8). The specificity was projected to be 94%-96% for EliA and 86% for IIF. When all AASRDs were taken together, the areas under the curve of receiver operator curves were similar between IIF and EliA. Conclusions The positive predictive value for AASRD was higher for EliA than for IIF, but, depending on the Disease, EliA might fail to detect antibodies that are detected by IIF. Combining immunoassay with IIF adds value.

Lawren H Daltroy - One of the best experts on this subject based on the ideXlab platform.

  • a Connective Tissue Disease screening questionnaire for population studies
    Annals of Epidemiology, 1995
    Co-Authors: Elizabeth W Karlson, Jorge Sanchezguerrero, Elizabeth A Wright, Robert A Lew, Lawren H Daltroy
    Abstract:

    To develop a technique to screen populations for potential Connective Tissue Disease (CTD), we mailed a 30-item questionnaire to 253 randomly selected patients with systemic lupus erythematosus, rheumatoid arthritis, scleroderma, polymyositis, dermatomyositis, mixed Connective Tissue Disease (MCTD), or Sjogren's syndrome and to 340 randomly selected control subjects. The response rate after four mailings was 71% for case subjects and 54% for control subjects. Test-retest reliability for detection of any CTD was 0.82. Sensitivity for specific CTDs was 83 to 96% and specificity was 83 to 93%. The positive predictive value for any CTD (assuming an overall prevalence of 1.3%) was 5.5%; negative predictive value was 99.7%. The CTD Screening Questionnaire has high sensitivity and specificity for screening large populations.

Oyvind Molberg - One of the best experts on this subject based on the ideXlab platform.

  • mixed Connective Tissue Disease
    Best Practice & Research: Clinical Rheumatology, 2016
    Co-Authors: Ragnar Gunnarsson, Siri Opsahl Hetlevik, Vibke Lilleby, Oyvind Molberg
    Abstract:

    The concept of mixed Connective Tissue Disease (MCTD) as a separate Connective Tissue Disease (CTD) has persisted for more than four decades. High titers of antibodies targeting the U1 small nuclear ribonucleoprotein particle (U1 snRNP) in peripheral blood are a sine qua non for the diagnosis of MCTD, in addition to distinct clinical features including Raynaud's phenomenon (RP), "puffy hands," arthritis, myositis, pleuritis, pericarditis, interstitial lung Disease (ILD), and pulmonary hypertension (PH). Recently, population-based epidemiology data from Norway estimated the point prevalence of adult-onset MCTD to be 3.8 per 100,000 and the mean annual incidence to be 2.1 per million per year, supporting the notion that MCTD is the least common CTD. Little is known about the etiology of MCTD, but recent genetic studies have confirmed that MCTD is a strongly HLA (​human leukocyte antigen)-linked Disease, as the HLA profiles of MCTD differ distinctly from the corresponding profiles of ethnically matched healthy controls and other CTDs. In the first section of this review, we provide an update on the clinical, immunological, and genetic features of MCTD and discuss the relationship between MCTD and the other CTDs. Then we proceed to discuss the recent advances in therapy and our current understanding of prognosis and prognostic factors, especially those that are associated with the more serious pulmonary and cardiovascular complications of the Disease. In the final section, we discuss some of the key, unresolved questions related to anti-RNP-associated Diseases and indicate how these questions may be approached in future studies.