Abstract：
:Genetic defects of collagen formation (the collagenopathies) affect almost every organ system and tissue in the body. They can be grouped by clinical phenotype, which usually correlates with the tissue distribution of the affected collagen subtype. Many of these conditions present in childhood; however, milder phenotypes presenting in adulthood are increasingly recognized. Many are difficult to differentiate clinically. Precise diagnosis by means of genetic testing assists in providing prognosis information, family counseling, and individualized treatment. This review provides an overview of the current range of clinical presentations associated with collagen defects, and the molecular mechanisms important to understanding how the results of genetic testing affect medical care.
journal_name
Curr Rheumatol Repjournal_title
Current rheumatology reportsauthors
Jobling R,D'Souza R,Baker N,Lara-Corrales I,Mendoza-Londono R,Dupuis L,Savarirayan R,Ala-Kokko L,Kannu Pdoi
10.1007/s11926-013-0394-3subject
Has Abstractpub_date
2014-01-01 00:00:00pages
394issue
1eissn
1523-3774issn
1534-6307journal_volume
16pub_type
杂志文章,评审abstract：:The normal process of aging brings about changes in immune function, hormonal status, overall metabolism, and enhanced occurrence of neuropsychiatric disorders. These alterations are also evident at an accelerating pace in chronic inflammatory diseases. Treatment with immunosuppressive therapeutics is often not suffic...
journal_title：Current rheumatology reports
pub_type： 杂志文章,评审
doi：10.1007/s11926-005-0027-6
更新日期：2005-10-01 00:00:00
abstract：:Behçet's syndrome is a systemic vasculitis with an unknown etiology affecting the small and large vessels of the venous and arterial systems. At least two clusters of disease expression have been described. The first includes superficial vein thrombosis, deep vein thrombosis, and dural sinus thrombi. The second includ...
journal_title：Current rheumatology reports
pub_type： 杂志文章,评审
doi：10.1007/s11926-010-0132-z
更新日期：2010-12-01 00:00:00
abstract：:Chronic fatigue syndrome/myalgic encephalomyelitis (CFS/ME) is a multisystem disease, the pathogenesis of which remains undetermined. Following two microarray studies, we reported the differential expression of 88 human genes in patients with CFS; 85 of these genes were upregulated and 3 were downregulated. The top fu...
journal_title：Current rheumatology reports
pub_type： 杂志文章
doi：10.1007/s11926-008-0079-5
更新日期：2008-12-01 00:00:00
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journal_title：Current rheumatology reports
pub_type： 杂志文章,评审
doi：10.1007/s11926-008-0060-3
更新日期：2008-10-01 00:00:00
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journal_title：Current rheumatology reports
pub_type： 杂志文章,评审
doi：10.1007/s11926-014-0487-7
更新日期：2015-02-01 00:00:00
abstract：:Several entities have been carefully investigated for the symptomatic and structural management of osteoarthritis. The most compelling evidence of a potential for inhibiting the structural progression of osteoarthritis has been obtained with glucosamine sulfate, while some preliminary results also suggest that chondro...
journal_title：Current rheumatology reports
pub_type： 杂志文章,评审
doi：10.1007/s11926-000-0023-9
更新日期：2000-12-01 00:00:00
abstract：:Traditional nonsteroidal anti-inflammatory drugs block cyclooxygenase (COX). They are the most widely used drugs for pain relief. They are indispensable for their effects but are condemned for their adverse drug reactions. Two COX inhibitors, acetaminophen and aspirin, are the most widely used over-the-counter drugs. ...
journal_title：Current rheumatology reports
pub_type： 杂志文章
doi：10.1007/s11926-009-0006-4
更新日期：2009-02-01 00:00:00
abstract：PURPOSE OF REVIEW:Positron emission tomography (PET) combined with computed tomography (CT) has proven useful as a cancer screening technique in patients with inflammatory myopathy, mainly dermatomyositis. In this review, we focus on advances in this direction and other potential applications of PET/CT in patients with...
journal_title：Current rheumatology reports
pub_type： 杂志文章,评审
doi：10.1007/s11926-019-0864-3
更新日期：2019-11-21 00:00:00
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journal_title：Current rheumatology reports
pub_type： 杂志文章,评审
doi：10.1007/s11926-016-0607-7
更新日期：2016-09-01 00:00:00
abstract：:The pathogenic mechanisms in Behçet's syndrome are largely unknown. An autoantigen role for human leukocyte antigen B51 has been proposed. The reasons behind the thrombophilia are also not clear. Endothelial pathology could be the main culprit. The recently proposed association between familial Mediterranean fever and...
journal_title：Current rheumatology reports
pub_type： 杂志文章,评审
doi：10.1007/s11926-003-0066-9
更新日期：2003-06-01 00:00:00
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journal_title：Current rheumatology reports
pub_type： 杂志文章,评审
doi：10.1007/s11926-014-0422-y
更新日期：2014-06-01 00:00:00
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journal_title：Current rheumatology reports
pub_type： 杂志文章,评审
doi：10.1007/s11926-003-0056-y
更新日期：2003-12-01 00:00:00
abstract：:Recent clinical development programs for new therapeutic agents in rheumatoid arthritis have included assessment of radiographic progression comparing changes with treatment to placebo and active controls. Studies now use reliable methods of assessment and sufficient study length to detect radiographic changes. Althou...
journal_title：Current rheumatology reports
pub_type： 杂志文章,评审
doi：10.1007/s11926-001-0050-1
更新日期：2001-02-01 00:00:00
abstract：:Pulmonary arterial hypertension (PAH) is a devastating complication of systemic sclerosis (SSc). Although there are screening tests for PAH, such as carbon monoxide diffusing capacity and Doppler echocardiography, these tests are far from perfect, patients are still identified late in the course of disease, and the un...
journal_title：Current rheumatology reports
pub_type： 杂志文章,评审
doi：10.1007/s11926-009-0013-5
更新日期：2009-04-01 00:00:00
abstract：:The prevalence of gout appears to be rapidly increasing worldwide and is no longer a disorder suffered primarily by over-fed alcohol consumers. Emerging risk factors include longevity, metabolic syndrome, and new classes of pharmacologic agents. In some ethnic populations, no obvious risk factors can explain the high ...
journal_title：Current rheumatology reports
pub_type： 杂志文章,评审
doi：10.1007/s11926-996-0028-0
更新日期：2006-06-01 00:00:00
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journal_title：Current rheumatology reports
pub_type： 杂志文章,评审
doi：10.1007/s11926-017-0650-z
更新日期：2017-05-01 00:00:00
abstract：:T regulatory cells (Tregs) represent a phenotypically and functionally heterogeneous group of lymphocytes that exert immunosuppressive activities on effector immune responses. Tregs play a key role in maintaining immune tolerance and homeostasis through diverse mechanisms which involve interactions with components of ...
journal_title：Current rheumatology reports
pub_type： 杂志文章,评审
doi：10.1007/s11926-016-0616-6
更新日期：2016-11-01 00:00:00
abstract：:Sleep disturbance is one of the most common comorbid problems for chronic pain patients. The association between the two phenomena has long been recognized, but the nature of the relationship is not well-understood. Many agree that the relationship is likely bidirectional. In this review, we focus on one side of the r...
journal_title：Current rheumatology reports
pub_type： 杂志文章,评审
doi：10.1007/s11926-011-0204-8
更新日期：2011-12-01 00:00:00
abstract：:Antiphospholipid syndrome is an important cause of neurologic morbidity. The clinical criteria for antiphospholipid syndrome include only cerebrovascular arterial and venous thrombosis, but many other neurologic manifestations have been associated with antiphospholipid antibodies (aPL). This review discusses the role ...
journal_title：Current rheumatology reports
pub_type： 杂志文章,评审
doi：10.1007/s11926-007-0004-3
更新日期：2007-05-01 00:00:00
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journal_title：Current rheumatology reports
pub_type： 杂志文章,评审
doi：10.1007/s11926-996-0069-4
更新日期：2000-02-01 00:00:00
abstract：:Osteoarthritis (OA), the most common type of arthritis worldwide, is a degenerative disease of diarthrodial joints resulting in pain, reduced quality of life, and socioeconomic burden. Gout, the most common form of inflammatory arthritis, is a consequence of persistently elevated levels of urate and the formation of p...
journal_title：Current rheumatology reports
pub_type： 杂志文章,评审
doi：10.1007/s11926-016-0613-9
更新日期：2016-10-01 00:00:00
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journal_title：Current rheumatology reports
pub_type： 杂志文章,评审
doi：10.1007/s11926-010-0084-3
更新日期：2010-04-01 00:00:00
abstract：:There have been few studies examining whether persons with chronic widespread pain or fibromyalgia are at increased risk for dying prematurely. Among the studies conducted there is little consistency in results. If there is an increased mortality risk, it is of the order of a 30% excess and it may be related to the li...
journal_title：Current rheumatology reports
pub_type： 杂志文章,评审
doi：10.1007/s11926-005-0017-8
更新日期：2005-10-01 00:00:00
abstract：PURPOSE OF REVIEW:Chikungunya virus (CHIKV) infection has become increasingly prevalent in the last decade not only across the southern hemisphere but also, because of a recently documented viral mutation, in southern Europe and the USA. With the global spread of CHIKV infection, practitioners should know its epidemiol...
journal_title：Current rheumatology reports
pub_type： 杂志文章,评审
doi：10.1007/s11926-017-0694-0
更新日期：2017-10-05 00:00:00
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journal_title：Current rheumatology reports
pub_type： 杂志文章,评审
doi：10.1007/s11926-007-0057-3
更新日期：2007-10-01 00:00:00
abstract：:The World Health Organization criteria for classification of bone mineral density (BMD) cannot be applied to premenopausal women because the relationship between BMD and fracture risk is not the same as in postmenopausal women. Approximately 2.5% of premenopausal women have BMD that is more than 2.0 standard deviation...
journal_title：Current rheumatology reports
pub_type： 杂志文章,评审
doi：10.1007/s11926-005-0008-9
更新日期：2005-03-01 00:00:00
abstract：:Hypocomplementemic urticarial vasculitis syndrome (HUVS) is an uncommon immune complex-mediated entity characterized by urticaria with persistent acquired hypocomplementemia. First described in 1973, HUVS is associated with several systemic findings including leukocytoclastic vasculitis, severe angioedema, laryngeal e...
journal_title：Current rheumatology reports
pub_type： 杂志文章,评审
doi：10.1007/s11926-009-0060-y
更新日期：2009-12-01 00:00:00
abstract：PURPOSE OF REVIEW:The purpose of the study is to briefly review the molecular mechanisms that leads to structural damage in ankylosing spondylitis (AS), defined as new bone formation resulting in complete or incomplete ankylosis of the spine, and the impact of treatment with biologics to retard this process. RECENT FI...
journal_title：Current rheumatology reports
pub_type： 杂志文章,评审
doi：10.1007/s11926-017-0644-x
更新日期：2017-04-01 00:00:00
abstract：:Systemic vasculitis can affect practically any structure in or around the eye. Although the ocular presentations of vasculitic disease are highly variable and may be quite subtle, it is important for physicians to understand some of the basic concepts, critical findings, and potential significance of ocular signs and ...
journal_title：Current rheumatology reports
pub_type： 杂志文章,评审
doi：10.1007/s11926-003-0037-1
更新日期：2003-04-01 00:00:00
abstract：:Tumor-induced osteomalacia (TIO) is a paraneoplastic syndrome resulting in renal phosphate wasting and decreased bone mineralization. TIO is usually induced by small, slowly growing tumors of mesenchymal origin (phosphaturic mesenchymal tumor mixed connective tissue variant [PMTMCT]). Nonspecific symptoms including fa...
journal_title：Current rheumatology reports
pub_type： 杂志文章,评审
doi：10.1007/s11926-015-0512-5
更新日期：2015-06-01 00:00:00
