Abstract:
:Lysosomal storage diseases are rare metabolic disorders, some of which can now be treated using enzyme replacement therapies. Because the time point of treatment initiation significantly influences the outcome in Gaucher disease, Fabry disease, and mucopolysaccharidosis type I, early diagnosis is of utmost importance. All three disorders can present with musculoskeletal symptoms in early stages, therefore, the rheumatologist may be the first to be contacted by these patients. Here, we present three characteristic lysosomal storage disease cases to increase awareness in the rheumatological community of the typical symptom constellations associated with these rare but treatable disorders.
journal_name
Clin Rheumatoljournal_title
Clinical rheumatologyauthors
Manger B,Mengel E,Schaefer RMdoi
10.1007/s10067-006-0299-xsubject
Has Abstractpub_date
2007-03-01 00:00:00pages
335-41issue
3eissn
0770-3198issn
1434-9949journal_volume
26pub_type
杂志文章abstract::The burden of anxiety in patients with systemic lupus erythematosus (SLE) compared to those with other inflammatory rheumatological conditions is unclear. We aimed to compare the frequency and level of anxiety between patients with SLE, rheumatoid arthritis (RA), and gout and healthy individuals and explore independen...
journal_title:Clinical rheumatology
pub_type: 杂志文章
doi:10.1007/s10067-010-1651-8
更新日期:2011-06-01 00:00:00
abstract::Vascular involvement, especially in young males, is seen in up to 40% of the patients with Behcet's disease (BD) and is a major cause of mortality and morbidity. In this study, we investigated vessel wall thickness (VWT) and dilatation in lower extremity veins with Doppler ultrasound (US) in male BD patients. Sixty-on...
journal_title:Clinical rheumatology
pub_type: 杂志文章
doi:10.1007/s10067-019-04470-z
更新日期:2019-05-01 00:00:00
abstract::The aim of this study was to determine whether the prolactin -1149 G/T polymorphism confers susceptibility to systemic lupus erythematous (SLE) and rheumatoid arthritis (RA). A meta-analysis was conducted for examining the associations between prolactin -1149 G/T polymorphism and susceptibility to SLE or RA using alle...
journal_title:Clinical rheumatology
pub_type: 杂志文章,meta分析
doi:10.1007/s10067-015-2904-3
更新日期:2015-04-01 00:00:00
abstract::Amyloidosis in association with Systemic Lupus Erythematosus (SLE) has rarely been reported. We report a patient with "SLE" and Amyloidosis presenting with recurrent bloody diarrhea and review the relevant literature. ...
journal_title:Clinical rheumatology
pub_type: 杂志文章
doi:10.1007/BF02242463
更新日期:1997-06-01 00:00:00
abstract::Gastrointestinal tract (GIT) is the most common organ system involved in systemic sclerosis (SSc). GIT involvement is mainly attributed to GIT dismobility and wide mouth diverticular. GIT involvement in SSc can be also severely debilitating and even life threatening. To our knowledge, the presence of gastrointestinal ...
journal_title:Clinical rheumatology
pub_type: 杂志文章
doi:10.1007/s10067-006-0264-8
更新日期:2007-06-01 00:00:00
abstract:OBJECTIVE:The association between hyperuricemia and insulin resistance (IR) has been demonstrated by many studies, but the traditional IR indexes are too impractical to be used in clinical practice for the recognition of the IR state in individuals with hyperuricemia. Therefore, we aimed to further investigate the asso...
journal_title:Clinical rheumatology
pub_type: 杂志文章
doi:10.1007/s10067-019-04671-6
更新日期:2019-11-01 00:00:00
abstract::Joint lavage for knee osteoarthritis is an invasive procedure that can be stressful and painful. We aimed to assess the impact of music therapy on perioperative anxiety, pain and tolerability of the procedure in patients undergoing joint lavage performed with two needles. We randomized all patients diagnosed with knee...
journal_title:Clinical rheumatology
pub_type: 杂志文章,随机对照试验
doi:10.1007/s10067-011-1925-9
更新日期:2012-03-01 00:00:00
abstract::Chronic whiplash-associated disorders (WAD) remains a challenging condition for clinicians. There is substantial evidence for the presence of various cervical dysfunctions (e.g., increased cervical muscle tone and impaired cervical movement control), but their contribution to the complex clinical picture of subjects w...
journal_title:Clinical rheumatology
pub_type: 杂志文章,评审
doi:10.1007/s10067-008-1083-x
更新日期:2009-03-01 00:00:00
abstract::This study aims to identify the clinical predictors of arthritis in patients with psoriasis and to evaluate the use of musculoskeletal ultrasonography (US) as a predictor for inflammatory structural progression in psoriatic patients. Measures of association (odds ratio (OR)) were tested, in a prospective, cohort 1-yea...
journal_title:Clinical rheumatology
pub_type: 杂志文章
doi:10.1007/s10067-014-2630-2
更新日期:2015-02-01 00:00:00
abstract::A few studies have reported the safety profile of interleukin (IL)-1 blockers from real life. The aim of this study is to describe anakinra (ANA) and canakinumab (CAN) safety profile in children and adults, based on data from a real-life setting. Demographic, clinical, and therapeutic data from patients treated with A...
journal_title:Clinical rheumatology
pub_type: 杂志文章,多中心研究
doi:10.1007/s10067-018-4119-x
更新日期:2018-08-01 00:00:00
abstract::Systemic lupus erythematosus (SLE) is a multi-system chronic inflammatory disease with a broad spectrum of clinical and serological manifestations. Although clinical evidence of proximal skeletal muscle involvement is not rare in patients with SLE, there is no knowledge about the effects of SLE on the macroscopic stru...
journal_title:Clinical rheumatology
pub_type: 杂志文章
doi:10.1007/s10067-013-2249-8
更新日期:2013-08-01 00:00:00
abstract:OBJECTIVE:To investigate the association between disease activity and cognitive impairment in patients with rheumatoid arthritis (RA). METHODS:A total of 464 patients from the rheumatoid arthritis registry of two academic centers, Siriraj and Phramongkutklao hospitals, were included. Demographic, clinical, and laborat...
journal_title:Clinical rheumatology
pub_type: 杂志文章,多中心研究
doi:10.1007/s10067-019-04488-3
更新日期:2019-07-01 00:00:00
abstract::Type B insulin resistance syndrome is characterized by the formation of autoantibodies against insulin receptors, which can cause severe hyperglycemia and insulin resistance. Systemic lupus erythematosus is the most common underlying diseases of the syndrome. This report details our study of a case involving a Chinese...
journal_title:Clinical rheumatology
pub_type: 杂志文章,评审
doi:10.1007/s10067-012-2098-x
更新日期:2013-02-01 00:00:00
abstract::Pulse therapy is one of the most well-known methods used in the treatment of juvenile rheumatoid arthritis. This study assessed the outcome of methylprednisolone pulse therapy, its rate of efficacy, and its associated complications in patients with juvenile rheumatoid arthritis (JRA). This cross-sectional study was pe...
journal_title:Clinical rheumatology
pub_type: 杂志文章
doi:10.1007/s10067-008-0919-8
更新日期:2008-11-01 00:00:00
abstract::A 22-year-old African male with known sickle cell anaemia was referred by a Congolese medical centre with a request to improve his poor physical condition. He was unable to walk, stand or sit because his large joints and his spine were either ankylosed or very rigid. Radiographs showed joint fusion from the third to t...
journal_title:Clinical rheumatology
pub_type: 杂志文章
doi:10.1007/s100670070047
更新日期:2000-01-01 00:00:00
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journal_title:Clinical rheumatology
pub_type: 杂志文章
doi:10.1007/BF02214106
更新日期:1989-03-01 00:00:00
abstract:OBJECTIVES:This study aimed to investigate the relationship among smoking, TNF-α-blocker therapy, and the dynamic changes in gut microbiota in patients with ankylosing spondylitis (AS). METHODS:Using a 16S rRNA sequence, 98 fecal samples of 20 AS patients collected after 0, 1, 3 and 6 months of anti-TNF-α treatment an...
journal_title:Clinical rheumatology
pub_type: 杂志文章
doi:10.1007/s10067-020-05032-4
更新日期:2020-09-01 00:00:00
abstract::This paper is to assess the efficacy of different biologic DMARDs (bDMARDs) on several patient-reported outcomes (PROs) in randomized controlled trials (RCT) in axial spondyloarthritis (axSpA). A systematic literature review (SLR) was performed. MEDLINE (May 1, 2018) was used with the filters "published in the last 10...
journal_title:Clinical rheumatology
pub_type: 杂志文章,评审
doi:10.1007/s10067-020-05209-x
更新日期:2021-01-01 00:00:00
abstract::The objective of this study was to compare total ankle arthroplasty (TAA) utilization and outcomes by patient residence. We used the Nationwide Inpatient Sample (NIS) from 2003 to 2011 to compare utilization and outcomes (post-arthroplasty discharge disposition, length of hospitalization, and mortality) by rural vs. u...
journal_title:Clinical rheumatology
pub_type: 杂志文章
doi:10.1007/s10067-015-2908-z
更新日期:2016-02-01 00:00:00
abstract::The objective of this study is to identify baseline factors associated with rheumatoid arthritis (RA) diagnosis at the end of 1-year follow-up in a cohort of patients with very recent onset arthritis. Incident cases with self-reported arthritis ( journal_title:Clinical rheumatology pub_type: 杂志文章 doi:10.1007/s10067-009-1206-z 更新日期:2009-10-01 00:00:00
abstract::The Osteoporosis Assessment Questionnaire Short Version (OPAQ-SV) was cross-culturally adapted to measure health-related quality of life in Chinese osteoporotic fracture females and then validated in China for its psychometric properties. Cross-cultural adaptation, including translation of the original OPAQ-SV into Ma...
journal_title:Clinical rheumatology
pub_type: 杂志文章
doi:10.1007/s10067-015-3010-2
更新日期:2016-04-01 00:00:00
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journal_title:Clinical rheumatology
pub_type: 杂志文章,随机对照试验
doi:10.1007/s10067-007-0815-7
更新日期:2008-07-01 00:00:00
abstract::Increased IFN-γ levels have been associated with systemic lupus erythematosus (SLE). However, the relationships among IFN-γ, type I interferons (IFNs) and clinical features have not been extensively studied. Peripheral blood samples from 44 SLE patients and 36 healthy donors (HDs) were collected. Quantitative real-tim...
journal_title:Clinical rheumatology
pub_type: 杂志文章
doi:10.1007/s10067-018-4138-7
更新日期:2018-10-01 00:00:00
abstract::Bone metabolism in patients with rheumatoid arthritis is reviewed. Two different entities are recognised: 1) a localised periarticular bone loss, due to inflammatory processes and 2) a generalised increased bone turnover, ultimately leading to a loss of axial bone mass. The mechanism of this loss of axial bone is not ...
journal_title:Clinical rheumatology
pub_type: 杂志文章,评审
doi:10.1007/BF02284051
更新日期:1988-03-01 00:00:00
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journal_title:Clinical rheumatology
pub_type: 杂志文章
doi:10.1007/BF02204472
更新日期:1988-06-01 00:00:00
abstract::While fibromyalgia is frequently associated with ear-related symptoms such as feeling of ear fullness, earache, and tinnitus, the pathogenesis of these ear-related symptoms in fibromyalgia patients is unknown. Here, we focused on clarifying the pathogenesis of ear fullness, a particularly common symptom observed in fi...
journal_title:Clinical rheumatology
pub_type: 杂志文章
doi:10.1007/s10067-013-2287-2
更新日期:2013-10-01 00:00:00
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journal_title:Clinical rheumatology
pub_type: 杂志文章
doi:10.1007/s10067-006-0446-4
更新日期:2007-07-01 00:00:00
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journal_title:Clinical rheumatology
pub_type: 杂志文章,评审
doi:10.1007/s10067-014-2657-4
更新日期:2015-10-01 00:00:00
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journal_title:Clinical rheumatology
pub_type: 杂志文章
doi:10.1007/s10067-003-0825-z
更新日期:2004-02-01 00:00:00
abstract::The objective of this study is to determine whether meniscal extrusion (ME) of the medial meniscus on ultrasonography affects knee osteoarthritis (KOA) progression during 3-year follow-up. Two hundred seventy volunteers (70 men, 200 women; mean age 60.5 years) participated. Weight-bearing radiographs were evaluated. A...
journal_title:Clinical rheumatology
pub_type: 杂志文章
doi:10.1007/s10067-017-3803-6
更新日期:2017-11-01 00:00:00