Abstract：
:Fragile X mental retardation 1 (FMR1) premutation carriers, who are at risk of having children with fragile X Syndrome, were initially considered as clinically unaffected. However, recent clinical and molecular studies have shifted this point of view. The incidence of premutation in the general population is substantial. Apart from the well-documented fragile X-associated tremor-ataxia and fragile X premature ovarian insufficiency, there is a broad constellation of symptoms including depression, anxiety, muscle pain, autoimmune and thyroid disease, chronic fatigue, and fibromyalgia that has been described, particularly in females with the premutation (55-200 repeats). Fibromyalgia (FM) is the most common cause of widespread pain and comprises a heterogeneous group of patients, affecting 2-3 % of the general population. We analyzed the FMR1 gene in a cohort of females diagnosed with fibromyalgia in order to assess the incidence of premutated alleles. CGG repeat size was determined in 353 females suffering from FM and results were compared with a control group. Four premutated carriers in the FM group were detected. The observed incidence is higher than that described for a normal female population (1/88 vs 1/250). The early detection of premutation carriers for the FMR1 gene among individuals diagnosed with fibromyalgia is important and would be helpful in correct genetic counseling of patients and their families, who may be at risk of having children with fragile X syndrome, the most common known cause of inherited intellectual disability and autism. Our data should be cautiously interpreted based on just this study; nevertheless, screening for the FMR1 gene in FM patients at least with presentations suggestive of FMR1 gene-related disease seems recommendable.
journal_name
Clin Rheumatoljournal_title
Clinical rheumatologyauthors
Martorell L,Tondo M,Garcia-Fructuoso F,Naudo M,Alegre C,Gamez J,Genovés J,Poo Pdoi
10.1007/s10067-012-2052-ysubject
Has Abstractpub_date
2012-11-01 00:00:00pages
1611-5issue
11eissn
0770-3198issn
1434-9949journal_volume
31pub_type
杂志文章abstract：:B cells in patients with rheumatoid arthritis (RA) are hyperactivated. Although B cell receptor signal transduction may be affected by various response regulators, CD22 plays an important role as a response regulator of B cells. Therefore, we investigated and examined CD22 expression on peripheral blood B cells of pat...
journal_title：Clinical rheumatology
pub_type： 杂志文章
doi：10.1007/s10067-007-0665-3
更新日期：2007-10-01 00:00:00
abstract：INTRODUCTION:We investigated whether rheumatoid arthritis (RA)-related autoantibodies were associated with abnormalities on pulmonary function tests (PFTs). METHODS:We studied RA serostatus and PFT abnormalities within a RA registry. RA serostatus was assessed by research assays for cyclic citrullinated peptide (CCP) ...
journal_title：Clinical rheumatology
pub_type： 杂志文章
doi：10.1007/s10067-019-04733-9
更新日期：2019-12-01 00:00:00
abstract：:Two cases of late hypophosphatemic osteomalacia are described: a male aged 30 who had the disease since he was 22 and a woman of 23 who had the disease since she was 14. Both presented with myopathy and bone pain, and showed hypophosphatemia, hyperglycinuria, reduced tubular phosphate reabsorption (TPR), increased hyd...
journal_title：Clinical rheumatology
pub_type： 杂志文章
doi：10.1007/BF02031617
更新日期：1985-09-01 00:00:00
abstract：:The aim of this study was to determine the emotional and sociodemographic characteristics of patients with ankylosing spondylitis (AS) and to investigate the impact of the disease on their social life and quality of life (QOL). This study included 101 patients with the diagnosis of AS. All patients filled in a questio...
journal_title：Clinical rheumatology
pub_type： 杂志文章
doi：10.1007/s10067-005-1150-5
更新日期：2006-03-01 00:00:00
abstract：:We encountered only three patients of carpal tunnel syndrome (CTS) due to tophaceous gout during 25 years of practice in a 'hand clinic' situated in a large metropolis in West India. In two patients, the CTS was bilateral, a rare occurrence in gout. There was an unwarranted delay (up to 9 years) in the diagnosis of bo...
journal_title：Clinical rheumatology
pub_type： 杂志文章
doi：10.1007/s10067-007-0672-4
更新日期：2007-12-01 00:00:00
abstract：:Adult onset Still's disease (AOSD) is an inflammatory disease of unknown etiology, characterized by spiking fever, evanescent salmon pink maculopapular rash, arthritis, and leukocytosis with neutrophilia. Malignant lymphoma is one of the most important differential diagnoses of AOSD. AOSD has been reported as one of p...
journal_title：Clinical rheumatology
pub_type： 杂志文章
doi：10.1007/s10067-009-1305-x
更新日期：2010-02-01 00:00:00
abstract：:The presentation of the Table 1 of the original version of this article was incorrectly published. The Table is now presented correctly in this article. ...
journal_title：Clinical rheumatology
pub_type： 杂志文章,已发布勘误
doi：10.1007/s10067-018-4098-y
更新日期：2018-09-01 00:00:00
abstract：:Autonomic nervous system (ANS) involvement has been studied in systemic lupus erythematosus, rheumatoid arthritis, systemic sclerosis, Sjogren's syndrome, and ankylosing spondylitis but still has not been studied in psoriatic arthritis (PsA). The aim of this study was to investigate the prevalence and the nature of au...
journal_title：Clinical rheumatology
pub_type： 杂志文章
doi：10.1007/s10067-013-2239-x
更新日期：2013-07-01 00:00:00
abstract：:A patient fulfilling the diagnostic criteria for systemic lupus erythematosus and presenting with catatonic schizophrenia is described. Psychiatric features of the disease and their management are discussed. ...
journal_title：Clinical rheumatology
pub_type： 杂志文章
doi：10.1007/BF02031619
更新日期：1985-09-01 00:00:00
abstract：OBJECTIVES:Rheumatoid arthritis (RA) may increase the risk of anxiety, but results from prior studies have no consensus. Our study aimed to evaluate the relationship between RA and incident anxiety by using a quantitative meta-analysis. METHODS:A number of databases were used to gather relevant information; they inclu...
journal_title：Clinical rheumatology
pub_type： 杂志文章,meta分析
doi：10.1007/s10067-019-04502-8
更新日期：2019-08-01 00:00:00
abstract：:Ochronosis involves primarily the large cartilaginous joint surfaces, ribs, intervertebral discs, ear cartilage etc. We report on a 53-year-old woman with typical alkaptonuric ochronosis with dark urine, blue-black pigmentation of the auriculae and hands, focal brown hyperpigmentation of the sclera, spondylarthropathy...
journal_title：Clinical rheumatology
pub_type： 杂志文章
doi：10.1007/s10067-002-8277-4
更新日期：2002-05-01 00:00:00
abstract：:The American College of Rheumatology (ACR) classification criteria for lupus and Systemic Lupus International Collaborating Clinics (SLICC) criteria are designed to classify disease. However, they have become widely used as diagnostic criteria in clinical situations. Patients may be labelled as systemic lupus erythema...
journal_title：Clinical rheumatology
pub_type： 杂志文章
doi：10.1007/s10067-018-3999-0
更新日期：2018-03-01 00:00:00
abstract：:The role of opioid therapy in chronic musculoskeletal disease continues to be controversial. However, recent years have seen a gradual shift towards the use of opioid therapy in chronic non-malignant pain (CNMP) following recognition that at least a subpopulation of such patients appears to benefit from long-term opio...
journal_title：Clinical rheumatology
pub_type： 杂志文章,评审
doi：10.1007/s100670200029
更新日期：2002-02-01 00:00:00
abstract：:Takayasu arteritis (TA) is a granulomatous vasculitis of large vessels with unknown aetiopathogenesis. An association between TA and tuberculosis (TB) has been suggested by several authors. The objective of this study was to perform a systematic review of the literature on the association of Mycobacterium tuberculosis...
journal_title：Clinical rheumatology
pub_type： 杂志文章
doi：10.1007/s10067-019-04818-5
更新日期：2020-04-01 00:00:00
abstract：:A pair of identical twins suffering from ankylosing spondylitis is reported. One brother developed an earlier-onset disease and showed ossification of the posterior longitudinal ligament and the flavum ligament in his cervical spine. ...
journal_title：Clinical rheumatology
pub_type： 杂志文章
doi：10.1007/BF02249033
更新日期：1994-06-01 00:00:00
abstract：OBJECTIVES:This study evaluated Superb Microvascular Imaging (SMI) technology for detection of active synovitis in patients with rheumatoid arthritis (RA). METHODS:Between June 2015 and October 2016, 56 patients with RA (42 females; mean age, 53.2 years) underwent gray-scale ultrasound (US) imaging, power Doppler imag...
journal_title：Clinical rheumatology
pub_type： 杂志文章
doi：10.1007/s10067-019-04550-0
更新日期：2019-09-01 00:00:00
abstract：OBJECTIVE:Familial Mediterranean fever (FMF) is a hereditary disease characterized by recurrent attacks of fever with peritonitis, arthritis, pleuritis or erysipelas-like rash. It is unclear what effects of FMF itself on endocrine system and hormones are. None of the FMF patients without amyloidosis have been reported ...
journal_title：Clinical rheumatology
pub_type： 杂志文章
doi：10.1007/s10067-005-0083-3
更新日期：2006-07-01 00:00:00
abstract：:A 78-year-old Japanese woman with Sjögren's syndrome complicating immune-mediated aplastic anaemia is described. A diagnosis of aplastic anaemia was made from severe pancytopenia with hypoplastic marrow. Laboratory studies suggested an association of bone marrow suppressive T-lymphocytes with the pathogenesis of aplas...
journal_title：Clinical rheumatology
pub_type： 杂志文章
doi：10.1007/BF02231538
更新日期：1993-06-01 00:00:00
abstract：:Systemic lupus erythematosus (SLE) is a multisystemic autoimmune disorder. Renal involvement has the worst prognosis. However, renal cortical necrosis is extremely unusual in SLE. In this case report, we describe the autopsy findings in a young female patient with SLE presenting with renal failure. At autopsy, there w...
journal_title：Clinical rheumatology
pub_type： 杂志文章
doi：10.1007/s10067-010-1395-5
更新日期：2010-07-01 00:00:00
abstract：:The acute renal side-effects of nonsteroidal anti-inflammatory drugs are well documented. These include interstitial nephritis, hyperkalaemia, renal tubular acidosis, fluid retention, hypertension and nephrotic syndrome. The long-term effects are less well known. We have carried out a cross-sectional survey of an unse...
journal_title：Clinical rheumatology
pub_type： 杂志文章
doi：10.1007/BF02204466
更新日期：1988-06-01 00:00:00
abstract：:The aim of this study was to investigate the association of two common interleukin 12B (IL-12B) polymorphisms (rs3212227 and rs6887695) with rheumatoid arthritis (RA) susceptibility through meta-analyses. A systematic literature search of PubMed, Web of Science, Cochrane Library, and Embase databases was conducted on ...
journal_title：Clinical rheumatology
pub_type： 杂志文章,meta分析
doi：10.1007/s10067-016-3327-5
更新日期：2017-02-01 00:00:00
abstract：:We report an adult case of reflex sympathetic dystrophy. In contrast to the usual findings in adults, three phase bone scintigraphy showed decreased bloodflow and bloodpool with hypofixation on delayed steady state bone scan of the affected lower limb. In spite of various therapeutic attempts severe dystrophy develope...
journal_title：Clinical rheumatology
pub_type： 杂志文章
doi：10.1007/BF02208035
更新日期：1991-03-01 00:00:00
abstract：OBJECTIVES:There are no pharmacovigilance studies on adverse event (AE) data for tumour necrosis factor alpha (TNFα) inhibitors in South Korea. We analysed AEs induced by adalimumab, infliximab, and etanercept METHODS: We used data from the Korea Institute of Drug Safety and Risk Management-Korea Adverse Events Reporti...
journal_title：Clinical rheumatology
pub_type： 杂志文章
doi：10.1007/s10067-019-04802-z
更新日期：2020-02-01 00:00:00
abstract：:Septic sacroiliitis in childhood is a relatively rare condition. We describe a case of septic sacroiliitis occurring in an 11-year-old girl in whom the diagnosis was suspected on clinical findings and bone scan. Immunoscintigraphy with 99mTc-labelled antigranulocyte antibodies further supported the hypothesis for a se...
journal_title：Clinical rheumatology
pub_type： 杂志文章
doi：10.1007/BF02231689
更新日期：1996-01-01 00:00:00
abstract：:This study aims to evaluate the impact of arthritis on the physical function of people living in a Maya-Yucateco rural community and to assess the association of known modifiable risk factors with the prevalence of overall arthritis and its main types (osteoarthritis and rheumatoid arthritis). Using a cross-sectional,...
journal_title：Clinical rheumatology
pub_type： 杂志文章
doi：10.1007/s10067-015-3084-x
更新日期：2016-07-01 00:00:00
abstract：:The aim of this study was to describe the abnormalities identified with conventional MRI in children with neuropsychiatric systemic lupus erythematosus (NPSLE). This was single-centre (Great Ormond Street Hospital, London) retrospective case series of patients with juvenile NPSLE seen in 2003-2013. Brain MR images of ...
journal_title：Clinical rheumatology
pub_type： 杂志文章
doi：10.1007/s10067-016-3376-9
更新日期：2016-10-01 00:00:00
abstract：:The effect of niflumic acid on hyaluronic acid and proteoglycan metabolism of human cartilage cells was investigated in vitro. Cartilage cells were obtained from five different donors. Niflumic acid levels used in the test systems ranged from 0 to 22 microgramsr/ml and were comparable to serum concentrations in humans...
journal_title：Clinical rheumatology
pub_type： 杂志文章
doi：10.1007/BF02030238
更新日期：1990-03-01 00:00:00
abstract：OBJECTIVES:The invalidation or social pain is an important but neglected issue in polysymptomatology of fibromyalgia (FM). This study sought whether tracing-perceived invalidation could be effective to discriminate between the presence and absence of FM in chronic pain patients with respect to five different sources, i...
journal_title：Clinical rheumatology
pub_type： 杂志文章
doi：10.1007/s10067-020-05515-4
更新日期：2021-01-07 00:00:00
abstract：:Rheumatoid arthritis (RA) is associated with increased vascular calcification, although the rate of progress of calcification is uncertain. The aim of the study was to evaluate the progression of and the predictors for calcification in different vascular beds over 10 years. The 10-year actual coronary calcium score (C...
journal_title：Clinical rheumatology
pub_type： 杂志文章
doi：10.1007/s10067-016-3536-y
更新日期：2017-04-01 00:00:00
abstract：:Low-dose naltrexone (LDN) has been demonstrated to reduce symptom severity in conditions such as fibromyalgia, Crohn's disease, multiple sclerosis, and complex regional pain syndrome. We review the evidence that LDN may operate as a novel anti-inflammatory agent in the central nervous system, via action on microglial ...
journal_title：Clinical rheumatology
pub_type： 杂志文章,评审
doi：10.1007/s10067-014-2517-2
更新日期：2014-04-01 00:00:00
