Abstract:
OBJECTIVES:U1-70K, encoded by the SNRNP70 gene, is a key early immunogen in connective tissue disease. The aim of the study was the genetic analysis of the SNRNP70 gene in mixed connective tissue disease (MCTD), systemic lupus erythematosus (SLE) and systemic sclerosis (SSc) patients. METHODS:SNRNP70 genetic variants were detected using 3730 DNA Analyzer. SNRNP70 rs560811128 G/A (c.476-252 G/A), rs78616533delCT (c.475+130_475+131delCT) and rs117167710 T/C (c.393+326 T/C) variants were genotyped using the technique of sequence-specific hybridisation probe binding assays. SNRNP70 393_47 G/A mutation was detected using TaqMan SNP genotyping assay. RESULTS:We found one novel c.393+47G>A and three, c.476-252 G/A, c.475+130_475+131delCT and c.393+326 T/C, previously recorded variants. The present study revealed that T-G-CT-G haplotype demonstrated significantly higher frequencies in MCTD patients than in SLE and SSc patients. In MCTD patients c.475+130_475+131delCT distribution of genotype was gender-dependent and showed association with thrombo-/leukocytopenia. Mutation at position c.476-252G>A was predicted to possibly have an impact on splicing of the SNRNP70 transcript and it was present only in one MCTD patient. CONCLUSIONS:Our results demonstrated that the T-G-CT-G SNRNP70 haplotype is another proof that MCTD may be distinct from SLE and SSc. The novel c.476-252G>A mutation in SNRNP70 gene created a new acceptor splice site and may potentially alert of splicing of the SNRNP70 transcript.
journal_name
Clin Exp Rheumatoljournal_title
Clinical and experimental rheumatologyauthors
Paradowska-Gorycka A,Wajda A,Stolarek I,Felis-Giemza A,Walczyk M,Nałecz-Janik J,Olesińska Msubject
Has Abstractpub_date
2019-07-01 00:00:00pages
32-40issue
4eissn
0392-856Xissn
1593-098Xpii
14166journal_volume
37 Suppl 119pub_type
杂志文章abstract::Serum levels of the aminoterminal type III procollagen peptide (S-PIIINP) have been used as markers of proliferative inflammation in rheumatoid arthritis (RA) and a prognostic significance has been suggested. To test this further we have measured S-PIIINP longitudinally for 2 years in 66 patients with definite RA and ...
journal_title:Clinical and experimental rheumatology
pub_type: 杂志文章
doi:
更新日期:1990-07-01 00:00:00
abstract:OBJECTIVE:Complement-mediated injury is regulated by many factors; among these CD59 has been identified as a widely distributed glycoprotein that inhibits membrane C5b-9 (terminal complement component) formation. The aim of the study was to assess erythrocyte CD59 expression in patients with psoriatic arthritis in orde...
journal_title:Clinical and experimental rheumatology
pub_type: 杂志文章
doi:
更新日期:2003-03-01 00:00:00
abstract::Rheumatoid arthritis (RA) societal costs are high because the disease may cause not only restricted joint mobility, chronic pain, fatigue, and functional disability, but also psychological distress. Direct health care costs represent about one-fourth of all costs and are prevalently represented by in-patient care expe...
journal_title:Clinical and experimental rheumatology
pub_type: 杂志文章
doi:
更新日期:2012-07-01 00:00:00
abstract::We describe two cases, a 28-year-old woman and a 46-year-old man, with mouth and genital ulcers with inflamed cartilage (chondritis of the nose and ears) (MAGIC syndrome). The conditions of both patients were resolved by treatment with corticosteroid and colchicine. We also review the English literature related to thi...
journal_title:Clinical and experimental rheumatology
pub_type: 杂志文章
doi:
更新日期:2006-09-01 00:00:00
abstract::Fasting hypergastrinemia was noted in 13-41% of 82 of outpatients with definite or classical rheumatoid arthritis. No differences were noted between the normogastrinemic and the hypergastrinemic subjects in their age, sex, duration of rheumatoid disease, serological status, or medications. The food-stimulated gastrin ...
journal_title:Clinical and experimental rheumatology
pub_type: 杂志文章
doi:
更新日期:1986-01-01 00:00:00
abstract:OBJECTIVES:To evaluate the psychometric properties of the OARSI-OMERACT questionnaires in comparison to the existing validated scales. METHODS:Consecutive hip or knee osteoarthritis patients consulting in an orthopedic department were enrolled in the study. Data collected were pain using the Intermittent and Constant ...
journal_title:Clinical and experimental rheumatology
pub_type: 杂志文章
doi:
更新日期:2011-03-01 00:00:00
abstract:OBJECTIVES:Systemic lupus erythematosus (SLE) is a chronic autoimmune multi-organ disease with an unpredictable course. SLE causes functional disability, changes in body appearance, and psychological distress. When faced with SLE, patients have to implement coping strategies. Therefore, the aim of this study was to des...
journal_title:Clinical and experimental rheumatology
pub_type: 杂志文章
doi:
更新日期:2020-07-01 00:00:00
abstract::Blockade of nerve growth factor (NGF) with antibodies is a promising strategy for treatment of chronic pain associated with osteoarthritis (OA). This narrative review describes the current status of NGF-blockade for the treatment of OA pain. We summarise briefly current evidence for the efficacy and risks of anti-NGF ...
journal_title:Clinical and experimental rheumatology
pub_type: 杂志文章,评审
doi:
更新日期:2017-09-01 00:00:00
abstract::We report herein the results of the cross-cultural adaptation and validation into the Czech language of the parent's version of two health related quality of life instruments. The Childhood Health Assessment Questionnaire (CHAQ) is a disease specific health instrument that measures functional ability in daily living a...
journal_title:Clinical and experimental rheumatology
pub_type: 杂志文章
doi:
更新日期:2001-07-01 00:00:00
abstract:OBJECTIVES:Imaging plays a role in myositis assessment by detecting muscle changes indicative of pathology. This study was conducted to determine the ultrasonographic pattern of muscle involvement in patients with inclusion body myositis (IBM) through an assessment of muscle echointensity. METHODS:Sixty-two individual...
journal_title:Clinical and experimental rheumatology
pub_type: 杂志文章
doi:
更新日期:2018-11-01 00:00:00
abstract:OBJECTIVES:To evaluate serum levels of fractalkine (FKN), a mediator of leukocyte transmigration, C-reactive protein (CRP) and expression of integrins CD11a and CD49d on peripheral blood lymphocytes in systemic sclerosis (SSc) and to investigate whether they are modulated by intravenous prostaglandin E1 (PGE1). METHOD...
journal_title:Clinical and experimental rheumatology
pub_type: 杂志文章,随机对照试验
doi:
更新日期:2008-07-01 00:00:00
abstract::Patients with alkaptonuria lack homogentisate 1,2-dioxygenase leading to retention of homogentistic acid (HGA) in body fluids and eventually to tissue deposition of oxidation products, giving rise to the clinical picture of ochronosis. Ascorbic acid is a known inhibitor of the enzyme which catalyses the oxidation of h...
journal_title:Clinical and experimental rheumatology
pub_type: 杂志文章
doi:
更新日期:1988-07-01 00:00:00
abstract::Giant cell arteritis (GCA), a systemic large-vessel vasculitis, is a disease that has been treated with glucocorticoids since 1950. Over the years, several disease-modifying anti-rheumatic drugs have been evaluated as steroid-sparing agents with disappointing results. Tocilizumab, an interleukin-6 inhibitor, has in re...
journal_title:Clinical and experimental rheumatology
pub_type: 杂志文章
doi:
更新日期:2020-03-01 00:00:00
abstract::This review contrasts the difficulty of differentiating early rheumatoid arthritis (RA) from the many other causes of inflammatory polyarthritis and emphasizes the need for early treatment of RA with drugs that are present considered inappropriate for a mild, self-limiting disease. Pointers to help establish a definit...
journal_title:Clinical and experimental rheumatology
pub_type: 杂志文章,评审
doi:
更新日期:1995-05-01 00:00:00
abstract::Interstitial granulomatous dermatitis with arthritis (IGDA) is a rare idiopathic skin disorder with variable cutaneous expression, typically associated with a seronegative arthritis. Histopathology of this disorder reveals a granulomatous infiltrate with foci of collagen degeneration in the deep reticular dermis. We p...
journal_title:Clinical and experimental rheumatology
pub_type: 杂志文章
doi:
更新日期:2014-03-01 00:00:00
abstract::Alteration of the distribution pattern and composition of glycosaminoglycans (GAG) and proteoglycans may play an important role in the development of autoimmune diseases. Recent experiments indicate that anti-DNA antibodies cross-reacting with hyaluronic acid, heparan sulphate and chondroitin sulphate are present in p...
journal_title:Clinical and experimental rheumatology
pub_type: 杂志文章,评审
doi:
更新日期:1996-05-01 00:00:00
abstract:OBJECTIVES:We aimed to identify different anti-TNF-α agents for ankylosing spondylitis (AS) assessed in randomised controlled trials (RCTs) and to compare them within a single evidence synthesis framework. METHODS:A Bayesian network analysis method was used to generate direct and indirect comparisons while maintaining...
journal_title:Clinical and experimental rheumatology
pub_type: 杂志文章,meta分析,评审
doi:
更新日期:2013-09-01 00:00:00
abstract::Thrombotic microangiopathy (TMA) is a rare disorder characterized by microvascular thrombosis. TMA has been reported in patients with antiphospholipid antibodies and/or antiphospholipid syndrome but its pathogenesis is not clarified. We present two patients with TMA associated with IgG phosphatidylserine dependent ant...
journal_title:Clinical and experimental rheumatology
pub_type: 杂志文章
doi:
更新日期:2008-01-01 00:00:00
abstract:OBJECTIVES:Interleukin-22 (IL-22) has been considered as an inflammatory cytokine. In the present study, we investigated the potential role of IL-22 in lupus nephritis (LN). METHODS:We examined the IL-22 levels of serum and kidney tissue from LN patients and MRL/lpr mice. An intraperitoneal injection of saline, isotyp...
journal_title:Clinical and experimental rheumatology
pub_type: 杂志文章
doi:
更新日期:2019-05-01 00:00:00
abstract:OBJECTIVE:Earlier studies have shown that patients suffering from juvenile arthritis (JA) have reduced serum concentrations of antioxidants compared with healthy controls. The aim of this study was to investigate whether the lower serum concentration of antioxidants found in these patients could be explained by a low d...
journal_title:Clinical and experimental rheumatology
pub_type: 杂志文章
doi:
更新日期:2000-09-01 00:00:00
abstract:OBJECTIVES:To determine the clinical characteristics of simultaneous occurrence of antitopoisomerase (ATA) and anticentromere (ACA) autoantibodies in systemic sclerosis (SSc). METHODS:Data of patients (n=4,687) fulfilling the ACR criteria for SSc and followed in the EULAR Scleroderma Trials and Research (EUSTAR) cohor...
journal_title:Clinical and experimental rheumatology
pub_type: 杂志文章
doi:
更新日期:2013-03-01 00:00:00
abstract:OBJECTIVES:AMG623, also known as A-623, is an antagonist of B-cell activating factor (BAFF). The present study was to evaluate the effects of AMG623 on murine models of autoimmune diseases. METHODS:AMG623 was generated through phage library. Inhibitory activities of AMG623 against human and murine BAFF were measured b...
journal_title:Clinical and experimental rheumatology
pub_type: 杂志文章
doi:
更新日期:2012-03-01 00:00:00
abstract::This paper in short reviews general indications, doses and routes of administration of glucocorticoid therapy in rheumatology. It presents greater detail concerning intralesional and intra-articular glucocorticoid injections. ...
journal_title:Clinical and experimental rheumatology
pub_type: 杂志文章,评审
doi:
更新日期:2011-09-01 00:00:00
abstract:OBJECTIVE:To investigate the composition and expression of sialic acid in the labial salivary glands (LSG) in Sjögren's syndrome (SS). METHODS:LSG of 19 patients with primary SS (n = 11) or secondary SS (n = 8) were studied. Specimens from 7 healthy women served as controls. Computer-assisted microscopy was employed t...
journal_title:Clinical and experimental rheumatology
pub_type: 杂志文章
doi:
更新日期:1999-11-01 00:00:00
abstract::The stress coping mechanisms of patients with rheumatoid arthritis (74 women and 27 men) were compared to those of healthy controls (17 women and 16 men) using the Stress Coping Questionnaire of Janke et al. (1). Based on the duration of illness, male and female patients were divided into three groups, those with a du...
journal_title:Clinical and experimental rheumatology
pub_type: 杂志文章
doi:
更新日期:1994-01-01 00:00:00
abstract:OBJECTIVE:To describe the characteristics of enthesitis and arthritis in the active inflammatory stage of juvenile onset spondyloarthropathies (SpA) during a short-term follow-up. PATIENTS AND METHODS:The study group included data of 33 patients with juvenile-onset SpA with enthesitis in > or = 3 sites, arthritis in >...
journal_title:Clinical and experimental rheumatology
pub_type: 临床试验,杂志文章,随机对照试验
doi:
更新日期:2002-09-01 00:00:00
abstract:OBJECTIVES:The aim of the present study was to compare the clinical results and the quality of life in patients with symptomatic knee osteoarthritis randomised to either a new HA (HYADD 4) or corticosteroid (CS). A separate rationale was to evaluate the safety profile of HYADD 4. METHODS:All the patients presenting fo...
journal_title:Clinical and experimental rheumatology
pub_type: 杂志文章,随机对照试验
doi:
更新日期:2016-09-01 00:00:00
abstract:OBJECTIVES:To compare the impact of ankylosing spondylitis (AS) on health-related quality of life (HRQL) and of adalimumab on initial and sustained improvement in HRQL for patients with active AS versus the general US population. METHODS:Data from the 5-year ATLAS trial were analysed. HRQL burden of AS and treatment i...
journal_title:Clinical and experimental rheumatology
pub_type: 杂志文章,随机对照试验
doi:
更新日期:2011-07-01 00:00:00
abstract::The immunological function of patients with inactive systemic lupus erythematosus (SLE) receiving chronically administered, low-dose cyclophosphamide (CY) together with prednisolone (PSL) was compared with that of inactive patients receiving PSL alone. A striking selective suppression of "genuine" resting, but not "pa...
journal_title:Clinical and experimental rheumatology
pub_type: 杂志文章
doi:
更新日期:1993-05-01 00:00:00
abstract:OBJECTIVES:The purpose of this study was to investigate whether the urokinase gene 3'-UTR C/T polymorphism is a marker of susceptibility to or severity of rheumatoid arthritis (RA) in Chinese patients. METHODS:A total of 145 RA patients and 134 healthy control subjects were enrolled in this study. We identified the C/...
journal_title:Clinical and experimental rheumatology
pub_type: 杂志文章
doi:
更新日期:2004-03-01 00:00:00