Abstract:
BACKGROUND:The MEFV gene is responsible for familial Mediterranean fever (FMF). Several disease associated mutations have been identified. The range of genetic variation in MEFV in Greek patients has not been determined. OBJECTIVE:To describe a method that facilitates the routine screening of the entire coding sequence of MEFV (excluding exon 1). METHODS:The non-isotopic RNase cleavage assay (NIRCA) was optimised and used as a first step screening method to screen exons 2 to 10 of MEFV. Exons 2 and 10 were analysed separately at DNA level, while exons 3 to 9 were analysed together at cDNA level. The sample group consisted of 26 FMF patients diagnosed using established clinical criteria, six asymptomatic relatives, 12 patients with atypical clinical manifestations, nine patients suffering from various inflammatory diseases, and three normal individuals. All were analysed by NIRCA for mutations in the MEFV gene and direct sequencing was applied subsequently to confirm the results. RESULTS:MEFV mutations were identified in 25 of 26 typical FMF patients and in two of 12 patients with atypical manifestations. NIRCA results were in concordance with sequencing findings in all sequences analysed, suggesting that the method is highly reliable in this disease. Sixteen alterations of MEFV were identified (eight missense mutations and eight single nucleotide polymorphisms). CONCLUSIONS:NIRCA can be used for rapid screening of the coding sequence of the MEFV gene in patients suspected of suffering from FMF.
journal_name
Ann Rheum Disjournal_title
Annals of the rheumatic diseasesauthors
Ritis K,Giaglis S,Spathari N,Micheli A,Zonios D,Tzoanopoulos D,Deltas CC,Rafail S,Mean R,Papadopoulos V,Tzioufas AG,Moutsopoulos HM,Kartalis Gdoi
10.1136/ard.2003.009258subject
Has Abstractpub_date
2004-04-01 00:00:00pages
438-43issue
4eissn
0003-4967issn
1468-2060journal_volume
63pub_type
杂志文章abstract::Osteocalcin is a non-collagenous bone matrix protein which is released into the circulation and can be measured by radioimmunoassay. Recent studies indicate that serum osteocalcin concentrations are a marker of bone formation. Because bone demineralisation is a common finding in patients with rheumatoid arthritis (RA)...
journal_title:Annals of the rheumatic diseases
pub_type: 杂志文章
doi:10.1136/ard.48.8.654
更新日期:1989-08-01 00:00:00
abstract:OBJECTIVES:Recent animal studies have revealed critical roles of interleukin (IL)17, which is produced by a newly identified subset of helper T cells, Th17 cells, in the development of autoimmune diseases including arthritis. However, in human rheumatoid arthritis (RA), detailed characteristics and the prevalence of Th...
journal_title:Annals of the rheumatic diseases
pub_type: 杂志文章
doi:10.1136/ard.2007.080341
更新日期:2008-09-01 00:00:00
abstract:OBJECTIVE:To determine if a new inhibitor, esculetin (EST), can block resorption of cartilage. METHODS:Interleukin 1alpha (IL1alpha, 0.04-5 ng/ml) and oncostatin M (OSM, 0.4-50 ng/ml) were used to stimulate the release of proteoglycan and collagen from bovine nasal cartilage and human articular cartilage in explant cu...
journal_title:Annals of the rheumatic diseases
pub_type: 杂志文章
doi:10.1136/ard.60.2.158
更新日期:2001-02-01 00:00:00
abstract::A case is reported of polytenosynovitis in a 31-year-old male during the course of a severe bacteraemic illness caused by Haemophilus influenzae type b. The clinical presentation was similar to tenosynovitis caused by bacterial or viral agents. As the management of the H. influenzae tenosynovitis would differ from tha...
journal_title:Annals of the rheumatic diseases
pub_type: 杂志文章
doi:10.1136/ard.38.6.561
更新日期:1979-12-01 00:00:00
abstract:OBJECTIVES:Advanced imaging studies have demonstrated that urate deposition in periarticular structures, such as tendons, is common in gout. The aim of this study was to investigate the effects of monosodium urate monohydrate (MSU) crystals on tenocyte viability and function. METHODS:The histological appearance of ten...
journal_title:Annals of the rheumatic diseases
pub_type: 杂志文章
doi:10.1136/annrheumdis-2013-204657
更新日期:2014-09-01 00:00:00
abstract::A six month controlled study of 5-fluorouracil in the treatment of scleroderma showed a modest benefit in skin scores, Raynaud's phenomenon, and patients' global assessment. Visceral organ and hand function were unaffected. Mild to moderate toxicity was common in the 5-fluorouracil treated patients but usually respond...
journal_title:Annals of the rheumatic diseases
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:10.1136/ard.49.11.926
更新日期:1990-11-01 00:00:00
abstract::The aetiology of Reiter's syndrome (RS) is unknown. In order to evaluate the role of immunological mechanisms in this disease we performed synovial biopsies on 12 patients with RS looking for deposition of immunoglobulins and complement components in synovial tissue. By immunofluorescent techniques 11 synovia were fou...
journal_title:Annals of the rheumatic diseases
pub_type: 杂志文章
doi:10.1136/ard.40.3.281
更新日期:1981-06-01 00:00:00
abstract:OBJECTIVE:To investigate whether the risk allele for systemic lupus erythematosus (SLE) in the signal transducer and activator of transcription factor 4 (STAT4) gene, defined by the single nucleotide polymorphism (SNP) rs10181656(G), is associated with vascular events and/or presence of prothrombotic anti-phospholipid ...
journal_title:Annals of the rheumatic diseases
pub_type: 杂志文章,多中心研究
doi:10.1136/ard.2009.115535
更新日期:2010-05-01 00:00:00
abstract:OBJECTIVES:Symptomatic knee osteoarthritis (OA) is a common disabling condition. Attention has tended to focus on the tibiofemoral joint (TFJ). However, there is evidence that the patellofemoral joint (PFJ) is involved in many cases, but its place in the sequence of development and progression of knee OA is unclear. Th...
journal_title:Annals of the rheumatic diseases
pub_type: 杂志文章,多中心研究
doi:10.1136/ard.2011.151050
更新日期:2011-11-01 00:00:00
abstract:OBJECTIVES:To determine the accuracy of ultrasonography (US) for bone erosion detection in different areas of rheumatoid arthritis (RA) metacarpophalangeal (MCP) joints with multislice CT as the reference method. Second, to establish the necessary bone volume loss on CT for US to reliably detect it as an erosion, and f...
journal_title:Annals of the rheumatic diseases
pub_type: 临床试验,杂志文章
doi:10.1136/annrheumdis-2011-201114
更新日期:2013-04-01 00:00:00
abstract::Gout and classical rheumatoid arthritis rarely coexist. We report a patient with strong evidence for both these diseases. Possible reasons for the negative correlation between these diseases are summarised. One hypothesis suggests inhibition of surface activity of monosodium urate crystals (MSU) by binding of rheumato...
journal_title:Annals of the rheumatic diseases
pub_type: 杂志文章
doi:10.1136/ard.44.6.384
更新日期:1985-06-01 00:00:00
abstract::The presence of anergy and its relationship to malnutrition was investigated in patients with rheumatoid arthritis (RA) and in controls. A generalised reduction in delayed cutaneous hypersensitivity to 7 recall antigens were found in 104 RA patients compared with 67 controls. No measured of the disease was capable of ...
journal_title:Annals of the rheumatic diseases
pub_type: 杂志文章
doi:10.1136/ard.43.3.430
更新日期:1984-06-01 00:00:00
abstract::The effect of intranasal salmon calcitonin on pain, erosion progression, and bone loss in 40 women with rheumatoid arthritis was investigated. The study design was double blind, placebo controlled for the first four months and open for the next 36 months, allowing for cross over to active drug treatment or to the cont...
journal_title:Annals of the rheumatic diseases
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1136/ard.51.6.761
更新日期:1992-06-01 00:00:00
abstract::Adenosine deaminase activity was determined in paired samples of serum and synovial fluid taken from patients with rheumatoid arthritis (n = 12), reactive arthritis (n = 13), and osteoarthritis (n = 7), and the value of this investigation in the diagnosis of synovial swellings was assessed. Increased activity was foun...
journal_title:Annals of the rheumatic diseases
pub_type: 杂志文章
doi:10.1136/ard.47.6.492
更新日期:1988-06-01 00:00:00
abstract:OBJECTIVES:Although TNF-α inhibitors' striking effect on clinical symptoms have revolutionised the treatment of ankylosing spondylitis (AS), no certain influence on the development of spinal ankylosis and joint destruction has been documented. We wished to investigate whether improved treatment has affected the use of ...
journal_title:Annals of the rheumatic diseases
pub_type: 杂志文章
doi:10.1136/annrheumdis-2013-203963
更新日期:2014-06-01 00:00:00
abstract:BACKGROUND:No consistent relationship between the severity of symptoms of knee osteoarthritis (OA) and radiographic change has been demonstrated. OBJECTIVES:To determine the relationship between symptoms of knee OA and tibial cartilage volume, whether pain predicts loss of cartilage in knee OA, and whether change in c...
journal_title:Annals of the rheumatic diseases
pub_type: 杂志文章
doi:10.1136/ard/2003.007666
更新日期:2004-03-01 00:00:00
abstract:OBJECTIVES:The purpose of this study was to analyse retrospectively adult patients with acute joint or muscle symptoms and a high antistreptolysin O (ASO) titre to find out which syndromes of clinical arthritis are associated with serological evidence of streptococcal infection. METHODS:Seventy six adult patients with...
journal_title:Annals of the rheumatic diseases
pub_type: 杂志文章
doi:10.1136/ard.52.7.527
更新日期:1993-07-01 00:00:00
abstract:OBJECTIVES:In agreement with other autoimmune diseases, systemic sclerosis (SSc) is associated with a strong sex bias. However, unlike lupus, the effects of sex on disease phenotype and prognosis are poorly known. Therefore, we aimed to determine sex effects on outcomes. METHOD:We performed a prospective observational...
journal_title:Annals of the rheumatic diseases
pub_type: 杂志文章
doi:10.1136/annrheumdis-2014-206386
更新日期:2016-01-01 00:00:00
abstract:BACKGROUND:Chronic systemic inflammation may contribute to accelerated atherosclerosis and increased arterial stiffness in patients with rheumatoid arthritis (RA). In addition to lowering cholesterol, statins have immunomodulatory effects which may be especially beneficial in patients with RA who have systemic immune a...
journal_title:Annals of the rheumatic diseases
pub_type: 杂志文章
doi:10.1136/ard.2003.018333
更新日期:2004-12-01 00:00:00
abstract::While rheumatoid-factor-producing haemolytic plaque-forming cells (RF--PFC) of the human peripheral blood were easily inhibited by cycloheximide, mouse spleen cells immune to sheep red cells (anti-SRC PFC) were inhibited only after prolonged preincubation in the drug. The RF--PFC were easily inhibited by propranolol, ...
journal_title:Annals of the rheumatic diseases
pub_type: 杂志文章
doi:10.1136/ard.38.3.237
更新日期:1979-06-01 00:00:00
abstract:OBJECTIVES:The balance between interferon gamma (IFN gamma) and interleukin 4 (IL4) producing T cells (T1 and T2 cells) seems to be of importance in many (auto)immune disorders. In general, T1 cell activity is important in cellular immunity whereas T2 cell activity plays a part in humoral responses. T1 cell activity pr...
journal_title:Annals of the rheumatic diseases
pub_type: 杂志文章
doi:10.1136/ard.57.5.275
更新日期:1998-05-01 00:00:00
abstract::(1) The phagocytosis of human IgG, IgM, and C3 by granulocytes from various rheumatoid and nonrheumatoid sera and synovial fluids (SF) was investigated by direct examination of the patient's leucocytes and indirect testing by incubation of normal donor leucocytes with various sera and SF. (2) In rheumatoid arthritis (...
journal_title:Annals of the rheumatic diseases
pub_type: 杂志文章
doi:10.1136/ard.34.2.146
更新日期:1975-04-01 00:00:00
abstract:OBJECTIVE:To study the association between the occurrence of peripheral arthritis and of acute anterior uveitis during the course of ankylosing spondylitis (AS). METHODS:Retrospective clinical follow up by both chart review and direct patient interview was performed on 271 individuals comprised of 222 local white and ...
journal_title:Annals of the rheumatic diseases
pub_type: 杂志文章
doi:10.1136/ard.54.2.128
更新日期:1995-02-01 00:00:00
abstract::During 1978 a survey was carried out on 34 036 people in Nagano Prefecture, Japan, in an epidemiological study of hyperuricaemia; 15 713 males and 18 324 females were examined by means of our health examination car. The subjects of the survey were all volunteers. The results have shown that the serum uric acid (SUA) l...
journal_title:Annals of the rheumatic diseases
pub_type: 杂志文章
doi:10.1136/ard.41.3.272
更新日期:1982-06-01 00:00:00
abstract:OBJECTIVE:To compare the performance of the American-European Consensus Group (AECG) and the newly proposed American College of Rheumatology (ACR) classification criteria for Sjögren's Syndrome (SS) in a well-characterised sicca cohort, given ongoing efforts to resolve discrepancies and weaknesses in the systems. METH...
journal_title:Annals of the rheumatic diseases
pub_type: 杂志文章
doi:10.1136/annrheumdis-2013-203845
更新日期:2014-01-01 00:00:00
abstract::The early changes (five weeks) in the structure of newly synthesised and endogenous articular cartilage sulphated proteoglycans were studied in lapine IgG induced experimental immune synovitis. Rabbits with immune synovitis (IS-IgG) were compared with animals with a developed hypersensitivity to IgG (I-IgG) and with n...
journal_title:Annals of the rheumatic diseases
pub_type: 杂志文章
doi:10.1136/ard.46.7.520
更新日期:1987-07-01 00:00:00
abstract:OBJECTIVE:To determine the stability and the degree of variation of antiphospholipid antibody (aPL) results over time in a large cohort of well evaluated aPL positive patients; and to analyse factors contributing to aPL variation and the validity of aPL in a real world setting in which aPL tests are done in multiple la...
journal_title:Annals of the rheumatic diseases
pub_type: 杂志文章,多中心研究
doi:10.1136/ard.2004.031856
更新日期:2005-09-01 00:00:00
abstract:OBJECTIVE:To assess productivity costs incurred by rheumatoid arthritis, comprising paid as well as household productivity costs, from a societal perspective, using different methods. METHODS:A questionnaire on productivity, including items of the Health and Labour Questionnaire, was completed by 576 patients with rhe...
journal_title:Annals of the rheumatic diseases
pub_type: 杂志文章,多中心研究
doi:10.1136/ard.2004.033977
更新日期:2005-12-01 00:00:00
abstract:OBJECTIVE:To study the associations between structural abnormalities on ultrasound (US) or conventional x-rays (CR) and pain in hand osteoarthritis (HOA). METHODS:In 55 consecutive patients with HOA (mean age 61 years, 86% women) fulfilling the American College of Rheumatology criteria, pain in 30 separate hand joints...
journal_title:Annals of the rheumatic diseases
pub_type: 杂志文章
doi:10.1136/ard.2010.147553
更新日期:2011-10-01 00:00:00
abstract::Antibodies to histones (AHA) are commonly found in patients with systemic lupus erythematosus (SLE). However, the full profile of AHA and their clinical associations remains unclear. A total of 111 patients with SLE were studied, including 13 patients in whom multiple serum samples were available over several years. I...
journal_title:Annals of the rheumatic diseases
pub_type: 杂志文章
doi:10.1136/ard.51.1.61
更新日期:1992-01-01 00:00:00