Abstract：
OBJECTIVES:Cryopyrin-associated periodic syndromes (CAPS) comprise a spectrum of distinct, rare, autosomal dominant autoinflammatory disorders of increasing severity caused by NLRP3 gene mutations. METHODS:We describe a 13-year-old female who presented, in the initial phase of the disease, recurrent episodes of high fever, pericarditis, arthralgia, arthritis of the knees, abdominal pain and marked increase in inflammatory markers. In the subsequent months she developed recurrent episodes of chest pain, skin rash and swelling of the subcutaneous tissue, without fever, and with spontaneous resolution. RESULTS:Molecular analysis of the CIAS1 gene revealed the presence of the Q703K variant and also a c.1105C>A mutation in the heterozygous state, that predicts a L369M amino acid substitution. The latter variant has never been reported. The L369M mutation was predicted to significantly affect protein structure (scoring as 'dangerous' and 'deleterious') by the Variant Effect Predictor tool. Therapy with anakinra was started with rapid disappearance of clinical symptoms and normalization of CRP levels in 24 hours. CONCLUSIONS:The rapid response to IL-1 inhibition suggests that the disease of this patient is driven by IL-1 and supports the conclusion that this novel mutation is pathogenic and may be associated with a new CAPS phenotype. The role played by the concomitant presence of the mutation Q703K remains to be clarified.
journal_name
Clin Exp Rheumatoljournal_title
Clinical and experimental rheumatologyauthors
Insalaco A,Prencipe G,Buonuomo PS,Ceccherini I,Bracaglia C,Pardeo M,Nicolai R,De Benedetti Fsubject
Has Abstractpub_date
2014-01-01 00:00:00pages
123-5issue
1eissn
0392-856Xissn
1593-098Xpii
7018journal_volume
32pub_type
杂志文章abstract：:There is general agreement that the hepatitis C virus is efficiently transmitted parenterally, while data on viral transmission from mothers to babies or by sexual or non-sexual household contact are conflicting. In Italy, hepatitis C accounts for approximately 20% of all cases of acute viral hepatitis. It is more fre...
journal_title：Clinical and experimental rheumatology
pub_type： 杂志文章,评审
doi：
更新日期：1995-11-01 00:00:00
abstract：OBJECTIVES:We investigated whether the central pain symptoms in fibromyalgia syndrome (FM) are related to defective top-down sensorimotor regulation. The pain matrix was activated in a top-down manner by presenting pictures of painful situations while recording brain activity using magnetoencephalography (MEG). We inve...
journal_title：Clinical and experimental rheumatology
pub_type： 杂志文章
doi：
更新日期：2019-01-01 00:00:00
abstract：OBJECTIVES:Proprotein convertase subtilisin/kexin type 9 (PCSK9) is a serine protease that regulates cholesterol metabolism through low-density lipoprotein receptor degradation and that has been linked with cardiovascular risk. The purpose of the present study was to examine whether PCSK9 levels are related to both abn...
journal_title：Clinical and experimental rheumatology
pub_type： 杂志文章
doi：
更新日期：2016-11-01 00:00:00
abstract：:Patient-reported outcomes (PROs) provide intrinsic knowledge about a patient's health, functional status, symptoms, treatment preferences, satisfaction, and quality of life. They have become an established approach for assessing health outcomes. The Health Assessment Questionnaire (HAQ), introduced in 1980, is among t...
journal_title：Clinical and experimental rheumatology
pub_type： 杂志文章
doi：
更新日期：2005-09-01 00:00:00
abstract：OBJECTIVES:IgG4-related Mikulicz's disease (IgG4-MD) has been recently established as a subtype of IgG4-related diseases involving the salivary and lacrimal glands, and the diseased glands are characteristically and highly responsive to corticosteroid therapy. We retrospectively evaluated ultrasonography (US) of the sa...
journal_title：Clinical and experimental rheumatology
pub_type： 杂志文章
doi：
更新日期：2013-09-01 00:00:00
abstract：OBJECTIVE:A paleopathological study was carried out on the she skeletal remains of Cardinal Carlo de' Medici (1595-1666), son of the Grand Duke Ferdinando I (1549-1609) and Cristina from Lorraine (1565-1636), to investigate the articular pathology described in the archival sources. METHODS:The skeletal remains of Carl...
journal_title：Clinical and experimental rheumatology
pub_type： 传,历史文章,杂志文章
doi：
更新日期：2009-07-01 00:00:00
abstract：OBJECTIVES:An impaired availability of nitric oxide (NO), related to polymorphisms in endothelial nitric oxide synthase (eNOS) gene, may influence the microvasculature in systemic Sclerosis (SSc). Three potential eNOS gene polymorphisms [tandem 27-bp repeats (VNTR) in intron 4, T786C in promoter region and G894T in exo...
journal_title：Clinical and experimental rheumatology
pub_type： 杂志文章
doi：
更新日期：2010-03-01 00:00:00
abstract：OBJECTIVES:We aimed to 1) identify clinical and genetic associations of sacroiliitis (SI) in patients with psoriatic arthritis (PsA), and 2) describe the different radiographic patterns of SI in PsA and their clinical and genetic associations. METHODS:283 PsA patients, fulfilling CASPAR criteria, underwent detailed sk...
journal_title：Clinical and experimental rheumatology
pub_type： 杂志文章
doi：
更新日期：2017-03-01 00:00:00
abstract：:Different tools are available for the measurement of functional status; however, only a few of them are based on the evaluation of the joint range of motion (ROM). This study is aimed at the design and evaluation of the measurement properties of a ROM scale to be used as an evaluative instrument in rheumatoid arthriti...
journal_title：Clinical and experimental rheumatology
pub_type： 杂志文章
doi：
更新日期：1990-09-01 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：PURPOSE AND METHODS:In order to evaluate the prevalence of positive hepatitis C virus (HCV) serology and cryoglobulinemia in human immunodeficiency virus (HIV)-infected patients, the prevalence and the clinical significance of cryoglobulinemia were prospectively studied in a cohort of 86 HIV-infected subjects seen as o...
journal_title：Clinical and experimental rheumatology
pub_type： 杂志文章
doi：
更新日期：1997-09-01 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:This paper aims to identify clinical and serological differences, damage accrual and mortality, in juvenile, adult and late-onset SLE. METHODS:We conducted our study with patients fulfilling SLE classification criteria taken from the Hospital Gregorio Marañon Autoimmune Systemic Rheumatic Diseases' Registry...
journal_title：Clinical and experimental rheumatology
pub_type： 杂志文章
doi：
更新日期：2015-11-01 00:00:00
abstract：:During the last decade, antiphospholipid antibodies and their clinical manifestations have given rise to increasing interest and have been associated with a wide spectrum of clinic expression, including arterial and venous thrombosis, thrombocytopenia, recurrent fetal wastage, Coombs positive haemolysis, livedo reticu...
journal_title：Clinical and experimental rheumatology
pub_type： 杂志文章,评审
doi：
更新日期：1993-11-01 00:00:00
abstract：OBJECTIVES:To study the predictive value of coronary calcification score (CCS) for future cardiovascular (CVS) events as detected by multi-detector computed tomography (MDCT) in patients with rheumatoid arthritis(RA) and systemic lupus erythematosus (SLE). METHODS:A total of 152 patients with RA and SLE, and 106 healt...
journal_title：Clinical and experimental rheumatology
pub_type： 杂志文章
doi：
更新日期：2012-05-01 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:To validate the diagnostic benefit of dual-energy computed tomography (DECT) and synovial fluid aspiration in suspected gout. METHODS:A total of 43 patients with suspected gout underwent aspiration and DECT (320-row CT; Canon Medical Systems, Japan). The patients were assessed (gout vs. non-gout) based on t...
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:Behçet's disease (BD) is characterised by repeated acute inflammatory attacks with aphthous ulcers of the oral mucosa, uveitis of the eyes, skin symptoms, and genital ulcers. Although its aetiology is still unknown, there is evidence of the involvement of oral bacteria in systemic diseases. Various types of ...
journal_title：Clinical and experimental rheumatology
pub_type： 杂志文章,多中心研究
doi：
更新日期：2020-09-01 00:00:00
abstract：OBJECTIVES:Treat-to-target strategies in the management of patients with rheumatoid arthritis (RA) involve intensifying medication as long as low disease activity or remission is not achieved. Our aim was to discuss reasons and opportunities for tapering and discontinuing medication when the target is achieved, in part...
journal_title：Clinical and experimental rheumatology
pub_type： 杂志文章,多中心研究,随机对照试验
doi：
更新日期：2013-07-01 00:00:00
abstract：OBJECTIVES:Adjuvant-induced innate immune responses have been suspected to play a role in the initiation of certain autoimmune disorders. This study investigates the role of alum, an aluminum-based adjuvant in the induction of Sjögren's syndrome-like disorder in mice. METHODS:Inbred, female New Zealand Mixed (NZM) 275...
journal_title：Clinical and experimental rheumatology
pub_type： 杂志文章
doi：
更新日期：2014-03-01 00:00:00
abstract：OBJECTIVE:Behçet's disease (BD) is a unique systemic vasculitis involving both arteries and veins of all sizes. Since Fcgamma receptors (FcgammaR) are important in mediating various immune effector functions, FcgammaR gene polymorphisms may affect the susceptibility to systemic inflammatory diseases such as BD. The aim...
journal_title：Clinical and experimental rheumatology
pub_type： 杂志文章
doi：
更新日期：2008-07-01 00:00:00
abstract：OBJECTIVES:To investigate the in-situ expression of acetylcholinesterase (AChE) in the inflamed vessel wall of patients with biopsy-positive giant cell arteritis (GCA) as compared to biopsy-negative non-GCA patients, and to evaluate the in-vivo expression of AChE in patients with large-vessel GCA (LVGCA) by 11C-donepez...
journal_title：Clinical and experimental rheumatology
pub_type： 杂志文章
doi：
更新日期：2019-03-01 00:00:00
abstract：:Tumour necrosis factor-receptor associated periodic syndrome (TRAPS) is a rare autosomal dominant autoinflammatory disorder characterised by recurrent episodes of long-lasting fever and inflammation in different regions of the body, as musculo-skeletal system, skin, gastrointestinal tube, serosal membranes and eye. In...
journal_title：Clinical and experimental rheumatology
pub_type： 杂志文章,评审
doi：
更新日期：2013-05-01 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：OBJECTIVE:Psychological stress affects the condition of patients with rheumatoid arthritis (RA). We evaluated the neuroendocrine and immune responses (NEIRs) in the peripheral blood to psychological stress induced by deep emotion with tears in patients with RA. METHODS:We compared the levels of plasma cortisol and int...
journal_title：Clinical and experimental rheumatology
pub_type： 杂志文章
doi：
更新日期：2003-09-01 00:00:00
abstract：OBJECTIVES:To test the hypothesis that classical phagocytic functions are constitutively stimulated in patients with Behçet's disease (BD). METHODS:Four study groups were analysed: active BD (aBD; n=30), inactive BD (iBD; n=31); septic patients (SP; n=25); healthy controls (HC; n=30). Microbicide activity against Stre...
journal_title：Clinical and experimental rheumatology
pub_type： 杂志文章
doi：
更新日期：2015-11-01 00:00:00
abstract：OBJECTIVE:We investigated the presence of anti-GOR antibodies in patients with essential mixed cryoglobulinemia, since both autoimmune pathogenetic processes and a high prevalence of HCV infection are present in this syndrome. METHODS:We compared these cases to patients with HCV-related chronic active hepatitis or alc...
journal_title：Clinical and experimental rheumatology
pub_type： 杂志文章
doi：
更新日期：1995-11-01 00:00:00
abstract：OBJECTIVE:To examine whether general feelings of fatigue, exercise-induced pain in the extremities, and exertion were different in female patients with fibromyalgia syndrome (FS) compared with sedentary healthy women. METHODS:Thirty-seven FS patients and 20 healthy subjects were studied. Cardiovascular fitness was ass...
journal_title：Clinical and experimental rheumatology
pub_type： 杂志文章
doi：
更新日期：1995-07-01 00:00:00
abstract：:Musculoskeletal ultrasound is an evolving technique widely used in rheumatology thanks to the numerous advances and the improved work on standardisation. This article deals with the new developments in terms of technology and validation. ...
journal_title：Clinical and experimental rheumatology
pub_type： 历史文章,杂志文章,评审
doi：
更新日期：2014-01-01 00:00:00
abstract：:In recent years, there has been a dramatic rise in the number of trials using monoclonal antibodies, especially those directed against the CD4 molecule, in the treatment of RA. Thus far, the numbers of patients treated in the individual studies have generally been small, and the study designs sometimes not comparable....
journal_title：Clinical and experimental rheumatology
pub_type： 杂志文章,评审
doi：
更新日期：1993-03-01 00:00:00
