Abstract:
BACKGROUND:Familial arthropathy comprises a heterogeneous group of arthropathies. It can be either an inflammatory or a noninflammatory condition. The worldwide frequency of these disorders is unknown. OBJECTIVE:To study the demographic, clinical and biochemical features, and survival of a large series of children with familial arthropathies. METHODS:The medical records of children who had an arthropathy and a family history of a similar condition at the Pediatric Rheumatology Clinic at King Faisal Specialist Hospital-Riyadh between 1990 and 2005 were reviewed. These included children with familial juvenile idiopathic arthritis (FJIA), infantile systemic hyalinosis (ISH), the nodulosis-arthropathy-osteolysis (NAO) syndrome, and the camptodactyly-arthropathy-coxa vara (CAC) syndrome. Familial rheumatic diseases including spondyloarthropathies or known syndromes associated with articular manifestations were excluded. In each case age, gender, presenting symptoms, laboratory data, diagnostic procedures, and provisional and final diagnoses as well as treatment and outcome were reviewed. RESULTS:Sixty-two children with various familial arthropathies were reviewed. Twelve children (9 female/3 male) with FJIA presented with polyarthritis. These children belonged to 4 unrelated families, all of whom were from the same geographical area, with 2 families belonging to the same tribe. The mean age at onset was 2.4 years, and mean age at diagnosis was 3.5 years. All children had high inflammatory markers. Nineteen children (11 male/8 female) with ISH presented in the neonatal period with painful joint contractures and typical mucocutaneous features. The referral diagnosis was inaccurate in 14 patients. Thirteen patients were the product of first-degree cousin marriages, and 5 families had more than 1 affected child. Radiological findings included periosteal reaction and osteolytic lesions. Tissue biopsy was performed in 8 patients and the findings were consistent with the diagnosis in all 8 patients. Despite aggressive management, 16 patients died. The mean age of the remaining 3 surviving children was 20 months. There were 15 children (9 female/6 male) with the NAO syndrome with a mean age at onset of 3.4 years. They were from 7 unrelated families; 5 families had more than 1 affected child. The referral diagnosis was juvenile idiopathic arthritis (JIA). Most children presented with painful deformed hands. Eleven children (70%) had advanced osteolytic changes. All children had normal inflammatory markers. There were 16 children (11 male/5 female) with the CAC syndrome who were diagnosed at a mean age of 3.7 years. Camptodactyly presented at birth or in first months of life, while other features developed in early childhood. JIA was the referral diagnosis. Fourteen children had bilateral coxa vara. Two children exhibited symptoms or signs of pericarditis. Inflammatory markers were normal in all children. CONCLUSIONS:Familial arthropathies are not uncommon conditions which may be easily confused with JIA, causing a delay in diagnosis and management. Careful evaluation of a child presenting with an arthropathy, particularly in a population where consanguinity is common, is required for timely and accurate diagnosis. Overall, the prognosis of these conditions remains guarded despite treatment.
journal_name
Semin Arthritis Rheumjournal_title
Seminars in arthritis and rheumatismauthors
Al-Mayouf SMdoi
10.1016/j.semarthrit.2006.08.008subject
Has Abstractpub_date
2007-02-01 00:00:00pages
256-61issue
4eissn
0049-0172issn
1532-866Xpii
S0049-0172(06)00119-3journal_volume
36pub_type
杂志文章abstract:OBJECTIVES:To identify and describe measures that can be used to assess the impact of psoriatic arthritis (PsA) on patient functioning and health-related quality of life (HRQOL). METHODS:A literature search of the PubMed database to identify papers describing assessment tools for quality of life and function in rheuma...
journal_title:Seminars in arthritis and rheumatism
pub_type: 杂志文章,评审
doi:10.1016/j.semarthrit.2008.01.003
更新日期:2009-02-01 00:00:00
abstract:OBJECTIVE:Describe the main activation and inhibitory pathways and receptors by which pDC regulate type I interferon secretion, as well as its association with autoimmune pathology. METHODS:A PubMed search for articles was conducted using the following key words: plasmacytoid dendritic cells, autoimmune diseases, vira...
journal_title:Seminars in arthritis and rheumatism
pub_type: 杂志文章,评审
doi:10.1016/j.semarthrit.2012.12.026
更新日期:2013-08-01 00:00:00
abstract:OBJECTIVES:Posterior interosseous nerve (PIN) palsy is a very rare complication of rheumatoid arthritis affecting the elbow joint. It results in weakness of extension of the fingers and may be confused with extensor tendon rupture and wrist drop due to radial nerve damage. METHODS:We present a case of PIN palsy second...
journal_title:Seminars in arthritis and rheumatism
pub_type: 杂志文章,评审
doi:10.1016/j.semarthrit.2010.07.011
更新日期:2011-06-01 00:00:00
abstract:OBJECTIVE:To review epidemiological studies dealing with the temporal and geographic variability in the occurrence of rheumatoid arthritis (RA) and clinical studies that address the variability of severity and manifestations among populations. METHODS:An extensive search of the literature, including a Medline search, ...
journal_title:Seminars in arthritis and rheumatism
pub_type: 杂志文章,评审
doi:10.1016/s0049-0172(97)80012-1
更新日期:1997-10-01 00:00:00
abstract:OBJECTIVES:To describe the morbidity and mortality in Canadian scleroderma (SSc) patients focusing on gender, SSc type, and organ-specific prognosis in a cohort of patients seen from 1994 to 2004 in a Southwestern Ontario SSc clinic. We also compared this cohort to data from the literature, which showed that mean survi...
journal_title:Seminars in arthritis and rheumatism
pub_type: 杂志文章
doi:10.1016/j.semarthrit.2008.06.002
更新日期:2010-02-01 00:00:00
abstract:OBJECTIVES:Systemic sclerosis (SSc) causes functional and structural microcirculatory dysfunction, affecting also distal extremities. Optical Near-InfraRed Spectroscopy (NIRS) of blood HbO2 saturation (stO2) is able to evaluate O2 delivery/consumption balance in the explored tissue. The NIRS-sensitive camera non-invasi...
journal_title:Seminars in arthritis and rheumatism
pub_type: 杂志文章
doi:10.1016/j.semarthrit.2018.08.002
更新日期:2019-04-01 00:00:00
abstract:OBJECTIVES:To study the prevalence of connective tissue diseases (CTD) in patients with autoimmune hepatitis (AIH). METHODS:We identified 11 cases of AIH over the past 7 years at our institution, through a systematic chart review of patients with this diagnosis. Their charts were reviewed for the development of system...
journal_title:Seminars in arthritis and rheumatism
pub_type: 杂志文章
doi:10.1016/j.semarthrit.2005.12.001
更新日期:2006-06-01 00:00:00
abstract:BACKGROUND:Chondroitin sulfates (CS) are involved in articular metabolism and could be used as therapeutic agents in degenerative articular diseases. OBJECTIVES:To review the published reports describing both the metabolism of glycosaminoglycans (GAG) and their involvement in osteoarticular pathophysiology. METHODS:M...
journal_title:Seminars in arthritis and rheumatism
pub_type: 杂志文章,评审
doi:10.1053/sarh.2000.24874
更新日期:2001-08-01 00:00:00
abstract:OBJECTIVES:Dermatomyositis (DM) constitutes a subset of idiopathic inflammatory myopathies clinically characterized by proximal muscle weakness and skin involvement. Some of the dermatologic manifestations are highly prevalent and characteristic, but others such as generalized or limb edema are truly rare. The aim of t...
journal_title:Seminars in arthritis and rheumatism
pub_type: 杂志文章,评审
doi:10.1016/j.semarthrit.2014.04.004
更新日期:2014-10-01 00:00:00
abstract:OBJECTIVE:To evaluate the outpatient health service utilisation of young people (YP) with juvenile idiopathic arthritis (JIA) during transfer from paediatric to adult care in Germany. METHODS:Based on claims data of a large German statutory health fund (BARMER GEK) we conducted a cohort study of 2008-2014. Insured YP ...
journal_title:Seminars in arthritis and rheumatism
pub_type: 杂志文章
doi:10.1016/j.semarthrit.2017.05.003
更新日期:2017-10-01 00:00:00
abstract::Rheumatoid pericarditis occurs in approximately one third of rheumatoid arthritis (RA) patients. However, clinically apparent rheumatoid pericarditis is infrequent. The authors found clinical pericarditis in 12 of 960 patients admitted for RA, 5 of whom had manifestations of cardiac compression. These 5 had longer dur...
journal_title:Seminars in arthritis and rheumatism
pub_type: 杂志文章
doi:10.1016/0049-0172(90)90056-l
更新日期:1990-12-01 00:00:00
abstract:BACKGROUND:Giant cell arteritis (GCA) is a disease that relapses often, and some patients run a refractory course. Although prompt recognition of resistant GCA is a major issue, there is no well-recognized, baseline risk factor for poor response to glucocorticoid (GC) treatment. METHODS:We included all patients consec...
journal_title:Seminars in arthritis and rheumatism
pub_type: 杂志文章
doi:10.1016/j.semarthrit.2020.09.009
更新日期:2020-12-01 00:00:00
abstract::A number of studies show the efficacy of methotrexate (MTX) for rheumatoid arthritis (RA) in general. However, is there any reason to single this drug out for early RA? Mechanistically, it probably works differently in RA than in cancer, at least in part. Thus, in addition to dihydrofolate reductase-related effects, M...
journal_title:Seminars in arthritis and rheumatism
pub_type: 杂志文章,评审
doi:10.1016/0049-0172(94)90083-3
更新日期:1994-06-01 00:00:00
abstract:OBJECTIVE:Diabetes (DM) and osteoarthritis (OA) are two common co-existing chronic conditions. However, whether this is due to shared risk factors or may differ between joints is unclear. We performed a systematic review to determine whether abnormal glucose metabolism is a risk factor for knee, hip and hand OA, separa...
journal_title:Seminars in arthritis and rheumatism
pub_type: 杂志文章
doi:10.1016/j.semarthrit.2018.02.008
更新日期:2018-10-01 00:00:00
abstract:OBJECTIVE:To assess the association of clinical and/or serological parameters with ultrasound-defined disease activity in rheumatoid arthritis (RA). METHODS:Retrospective analysis of 149 consecutive RA patients routinely assessed by sonography of the wrists, metacarpo-phalangeal, and proximal interphalangeal joints. S...
journal_title:Seminars in arthritis and rheumatism
pub_type: 杂志文章
doi:10.1016/j.semarthrit.2011.09.005
更新日期:2012-06-01 00:00:00
abstract:OBJECTIVES:To describe the clinical presentation, diagnosis, classification, grading, evaluation of prognosis, and treatment of amyloidosis against the background of its pathomechanisms. METHODS:PubMed and MEDLINE databases (1990 to October 2007) and internet were searched for the key word amyloidosis and evaluated on...
journal_title:Seminars in arthritis and rheumatism
pub_type: 杂志文章,评审
doi:10.1016/j.semarthrit.2008.09.001
更新日期:2010-04-01 00:00:00
abstract:OBJECTIVE:To evaluate the prescription modalities of general practitioners (GPs) and specialists in symptomatic osteoarthritis (OA) patients enrolled in the AMICA study. PATIENTS AND METHODS:This study started in 2001 as a cohort investigation of OA patients seen by 2764 GPs and 316 specialists. Enrolled were 28,981 p...
journal_title:Seminars in arthritis and rheumatism
pub_type: 杂志文章,多中心研究
doi:10.1016/j.semarthrit.2005.02.001
更新日期:2005-08-01 00:00:00
abstract:OBJECTIVES:The sparing effect of hemiplegia in rheumatic diseases has been described, but reports on systemic sclerosis (SSc)-spectrum disorders are unusual. SSc-spectrum disorders are complex diseases of unknown origin characterized by multisystem involvement, skin and organ fibrosis, microvascular alterations, and im...
journal_title:Seminars in arthritis and rheumatism
pub_type: 杂志文章,评审
doi:10.1016/j.semarthrit.2014.10.011
更新日期:2015-04-01 00:00:00
abstract:BACKGROUND:Ankylosing spondylitis (AS) is a chronic inflammatory disorder that affects approximately 350,000 patients in the United States. Over time, the spinal and peripheral joint involvement of AS may cause severe disability and functional limitations. Research in the molecular and cellular events of AS has uncover...
journal_title:Seminars in arthritis and rheumatism
pub_type: 杂志文章,评审
doi:10.1016/j.semarthrit.2004.08.005
更新日期:2005-02-01 00:00:00
abstract:OBJECTIVE:To provide an overview of the underlying scientific principles and standards for developing a biosimilar product. METHODS:An Internet-based literature search through June 2015 was performed for information related to biosimilar manufacturing and development, including a review of regulatory guidelines and re...
journal_title:Seminars in arthritis and rheumatism
pub_type: 杂志文章,评审
doi:10.1016/j.semarthrit.2016.01.002
更新日期:2016-04-01 00:00:00
abstract::Our current hypothesis is that mechanical damage in the spine such as a disc prolapse can lead directly to pain. However, pain arising for this reason is usually of short duration. In many subjects, however, the mechanical problems lead to vascular damage and, in particular, venous obstruction and dilatation with endo...
journal_title:Seminars in arthritis and rheumatism
pub_type: 杂志文章,评审
doi:10.1016/0049-0172(89)90020-6
更新日期:1989-05-01 00:00:00
abstract:OBJECTIVE:Comparison of naproxcinod (375 and 750 mg), placebo (up to 13 weeks), and naproxen 500 mg (all bid) for treatment of osteoarthritis (OA) signs and symptoms. METHODS:A 53-week, randomized, double-blind, parallel-group study. One thousand twenty patients with primary knee OA were randomized to naproxcinod 750 ...
journal_title:Seminars in arthritis and rheumatism
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1016/j.semarthrit.2010.06.002
更新日期:2011-02-01 00:00:00
abstract::The beneficial effects of the anti-tumor necrosis factor (TNF) monoclonal antibodies infliximab and adalimumab and the soluble receptor fusion protein etanercept in the treatment of rheumatoid arthritis and a variety of other inflammatory disorders have been well described. However, less is known about the propensity ...
journal_title:Seminars in arthritis and rheumatism
pub_type: 杂志文章,评审
doi:10.1016/j.semarthrit.2005.01.005
更新日期:2005-04-01 00:00:00
abstract:BACKGROUND:Progressive-psuedorheumatoid-arthropathy of childhood (PPAC) is an autosomal recessive single gene skeletal dysplasia involving joints. The gene attributed to its cause is WNT1-inducible-signaling pathway protein3 (WISP3). OBJECTIVE:To study the clinical and radiographic presentation of PPAC in Indian patie...
journal_title:Seminars in arthritis and rheumatism
pub_type: 杂志文章,评审
doi:10.1016/j.semarthrit.2012.09.001
更新日期:2013-06-01 00:00:00
abstract:OBJECTIVE:To investigate the impact of indicators of unfavorable prognosis ("poor prognostic factors") on the achievement of low disease activity (LDA)/remission in patients with rheumatoid arthritis (RA). METHODS:Biologic DMARD-naïve patients with RA from three observational cohorts were examined. N = 713 patients st...
journal_title:Seminars in arthritis and rheumatism
pub_type: 杂志文章
doi:10.1016/j.semarthrit.2018.09.003
更新日期:2019-06-01 00:00:00
abstract::Gout, the most common inflammatory arthritis, is the result of hyperuricemia and inflammation induced by monosodium urate (MSU) crystal deposition. However, most people with hyperuricemia will never develop gout, implying a molecular-genetic contribution to the development of gout. Recent genomic studies reveal links ...
journal_title:Seminars in arthritis and rheumatism
pub_type: 杂志文章,评审
doi:10.1016/j.semarthrit.2020.06.015
更新日期:2020-10-01 00:00:00
abstract:OBJECTIVES:To report an unusual case of lipoma aborescens (LA) presented in a patient with treatment-responsive juvenile spondyloarthropathy (JSPA) and to summarize the clinical manifestations, therapy and prognosis of LA by literature review. METHODS:We report an atypical case of a 17-year-old patient with an initial...
journal_title:Seminars in arthritis and rheumatism
pub_type: 杂志文章,评审
doi:10.1016/j.semarthrit.2012.12.022
更新日期:2013-10-01 00:00:00
abstract::Felty's syndrome, consisting of rheumatoid arthritis, leukopenia, and splenomegaly, has been recognized as a distinct clinical entity for more than 60 years. Clinical and laboratory manifestations of the condition are reviewed. The major sources of morbidity and mortality remain recurrent local and systemic infections...
journal_title:Seminars in arthritis and rheumatism
pub_type: 杂志文章,评审
doi:10.1016/0049-0172(91)90002-h
更新日期:1991-12-01 00:00:00
abstract:OBJECTIVES:To compare the patterns of American College of Rheumatology (ACR) response between tocilizumab and other biologic agents in patients with rheumatoid arthritis who have inadequate response to disease-modifying antirheumatic drugs (DMARD-IR). METHODS:Systematic literature review identified similarly designed ...
journal_title:Seminars in arthritis and rheumatism
pub_type: 杂志文章,评审
doi:10.1016/j.semarthrit.2009.12.002
更新日期:2010-06-01 00:00:00
abstract:OBJECTIVE:A multidisciplinary expert panel, the Italian board for the TAilored BIOlogic therapy (ITABIO), was constituted to formulate evidence-based decisional statements for the first-line tailored biologic therapy in patient with rheumatoid arthritis (RA), spondyloarthritis (SpA), and psoriatic arthritis (PsA). MET...
journal_title:Seminars in arthritis and rheumatism
pub_type: 杂志文章,评审
doi:10.1016/j.semarthrit.2015.10.001
更新日期:2016-04-01 00:00:00