Abstract：
:Autoinflammatory syndromes are characterized by periodic febrile attacks in combination with increased inflammatory markers. The dysregulation of different cellular signaling pathways leads to an excessive immune response, which can in turn promote multisystemic inflammatory processes. Due to overlapping symptoms, variable expressivity and pleiotropy, a purely clinical diagnosis of autoinflammatory diseases is difficult in many cases. Because an early and definitive diagnosis can greatly improve the quality of life of many patients, molecular genetic methods have become an important part of the diagnostic process. With the development of next-generation sequencing (NGS), the genetic diagnosis of patients with autoinflammatory diseases has significantly improved. Considerable progress has not only been made in the genetic characterization of undiagnosed patients, but additionally in identifying numerous new disease-associated genes; however, the plethora of molecular genetic analytical methods makes it difficult to select the method with the highest diagnostic specificity and sensitivity. The NGS technologies have also led to a large increase in the number of identified variants, making the clinical evaluation of these variants more complex. Consensus-driven and standardized molecular diagnostic guidelines, both for the diagnostic process and for the interpretation of the obtained results, have therefore become essential.
journal_name
Z Rheumatoljournal_title
Zeitschrift fur Rheumatologieauthors
Schnappauf Odoi
10.1007/s00393-020-00847-7subject
Has Abstractpub_date
2020-09-01 00:00:00pages
611-623issue
7eissn
0340-1855issn
1435-1250pii
10.1007/s00393-020-00847-7journal_volume
79pub_type
杂志文章,评审abstract：OBJECTIVE:To assess the relative efficacy and safety of apremilast, secukinumab, and ustekinumab at different doses in patients with active psoriatic arthritis (PsA). METHOD:A Bayesian network meta-analysis was conducted, which included randomized controlled trials (RCTs) that examined the efficacy and safety of aprem...
journal_title：Zeitschrift fur Rheumatologie
pub_type： 杂志文章,meta分析
doi：10.1007/s00393-017-0355-8
更新日期：2018-09-01 00:00:00
abstract：:The modified significance of radiological criterion in the new ACR/EULAR classification criteria for rheumatoid arthritis is based on the fact that the bone erosion seen using conventional radiology is the result of an already longstanding inflammatory process.In contrast, new imaging modalities such as magnetic reson...
journal_title：Zeitschrift fur Rheumatologie
pub_type： 杂志文章
doi：10.1007/s00393-011-0772-z
更新日期：2011-04-01 00:00:00
abstract：:We investigated the relationships between prolactin (PRL) levels and antibody occurrence in systemic lupus erythematosus (SLE). No significant association between PRL levels and the majority of the autoantibodies studied (anti-U1 RNP, anti-rRNP, anti-Sm, anti-dsDNA, anti-DNP, auto-LCA, anti-EACA) could be confirmed (P...
journal_title：Zeitschrift fur Rheumatologie
pub_type： 杂志文章
doi：10.1007/s003930070024
更新日期：2000-01-01 00:00:00
abstract：:Chondral or osteochondral lesions are typical injuries in orthopaedics and traumatology. Since there is no regeneration of damaged articular cartilage, these lesions can lead to premature osteoarthritis. Therefore, an adequate therapy for these injuries is an important goal. Nowadays, common methods in cartilage thera...
journal_title：Zeitschrift fur Rheumatologie
pub_type： 杂志文章
doi：10.1007/s00393-007-0213-1
更新日期：2007-10-01 00:00:00
abstract：:Fiftythree patients with progressive systemic sclerosis were studied. Four of them (3 males) had the diffuse form of the disease. The skin manifestation of this clinical picture is characterized by diffuse progression of the cutaneous sclerosis over almost the whole body surface, except for the hands where it eventual...
journal_title：Zeitschrift fur Rheumatologie
pub_type： 杂志文章
doi：
更新日期：1976-07-01 00:00:00
abstract：:Temporomandibular joint affections in rheumatic disease are described. They were seen in inflamed joint diseases, mostly in rheumatoid arthritis, and less so in juvenile rheumatoid arthritis, psoriatic arthritis, Reiter's syndrome, ankylosing spondylitis, and collagen vascular disease. In osteoarthrosis, the temporoma...
journal_title：Zeitschrift fur Rheumatologie
pub_type： 杂志文章,评审
doi：
更新日期：1988-03-01 00:00:00
abstract：:The knee joint is often involved in rheumatoid arthritis. Despite ever-improving medical antirheumatic therapies, surgical treatment continues to play an important role in optimal multidisciplinary care. The aim of the present work is to process current orthopedic surgical therapy procedures on the knee joint accordin...
journal_title：Zeitschrift fur Rheumatologie
pub_type： 杂志文章,评审
doi：10.1007/s00393-018-0534-2
更新日期：2018-12-01 00:00:00
abstract：:Rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE) are associated with increased mortality, largely as a consequence of cardiovascular (CV) disease. Studies found relative risk ratios of 2 for myocardial infarction in RA and up to 7 for myocardial infarction in SLE patients.Beyond the traditional CV risk...
journal_title：Zeitschrift fur Rheumatologie
pub_type： 杂志文章
doi：10.1007/s00393-009-0585-5
更新日期：2010-10-01 00:00:00
abstract：:Light and electron microscopic investigations of joint cartilage in 13 cases of septic arthritis revealed sites of cartilaginous matrix infiltrated with polymorphonuclear granulocytes. This finding confirms rather unknown morphological works done by investigators on this diseases in the late 19th and beginning of the ...
journal_title：Zeitschrift fur Rheumatologie
pub_type： 杂志文章
doi：
更新日期：1995-07-01 00:00:00
abstract：:The photometric latex test (PLT) for the detection of rheumatoid factors (RF) has been correlated with the sensitized sheep cell test (SSC) and the latex slide test (LST). A total of 377 sera from patients with rheumatoid arthritis (RA) and 120 sera from control subjects were examined. When the PLT was carried out on ...
journal_title：Zeitschrift fur Rheumatologie
pub_type： 杂志文章
doi：
更新日期：1978-03-01 00:00:00
abstract：:The SAPHO syndrome, an acronym for synovitis, acne, pustulosis, hyperostosis and osteitis, is a rare disease which affects bones, joints and the skin. The main osteoarticular features are hyperostosis and osteitis. Osteoarticular symptoms predominantly occur on the anterior chest wall but the spine and the peripheral ...
journal_title：Zeitschrift fur Rheumatologie
pub_type： 杂志文章
doi：10.1007/s00393-014-1460-6
更新日期：2014-10-01 00:00:00
abstract：:After clinical and radiological examination, the elbows of 74 patients with rheumatoid arthritis were examined by ultrasound. Clinical examination gives a good impression of the inflammatory changes of the elbow joint. Sonography was very useful in detecting synovitis and joint effusion and their distribution in the d...
journal_title：Zeitschrift fur Rheumatologie
pub_type： 杂志文章
doi：
更新日期：1993-05-01 00:00:00
abstract：BACKGROUND:Scleromyxedema is a rare connective tissue disease that may affect numerous internal organs in addition to the skin. The disease is almost exclusively associated with monoclonal gammopathy. MATERIAL AND METHODS:This retrospective study summarizes the clinical characteristics of four patients with scleromyxe...
journal_title：Zeitschrift fur Rheumatologie
pub_type： 杂志文章
doi：10.1007/s00393-012-0997-5
更新日期：2012-08-01 00:00:00
abstract：:Wegener's granulomatosis, Churg-Strauss syndrome and analgesics intolerance syndrome with polyps demonstrate non-specific manifestations in the head and neck region. These symptoms can often lead to early diagnosis and initiation of the correct therapy. However, symptoms are often ambiguous and many rare differential ...
journal_title：Zeitschrift fur Rheumatologie
pub_type： 杂志文章,评审
doi：10.1007/s00393-008-0324-3
更新日期：2008-09-01 00:00:00
abstract：:Because it is a systemic disorder, rheumatoid arthritis (RA) is known to predispose affected individuals to other organ manifestations as well as arthritic problems. The serious complications include pericarditis, pulmonary and cutaneous nodules, episcleritis, and rheumatoid vasculitis. Of late, a significantly increa...
journal_title：Zeitschrift fur Rheumatologie
pub_type： 杂志文章,评审
doi：10.1007/s00393-006-0105-9
更新日期：2006-10-01 00:00:00
abstract：:The painter Max Slevogt (1868-1932), together with Lovis Corinth and Max Liebermann, was one of the most important representatives of German impressionism. Slevogt, a gourmet who appreciated fine food and good wines, suffered from acute recurrent gouty arthritis starting at the age of 27 years. His medical history is ...
journal_title：Zeitschrift fur Rheumatologie
pub_type： 传,历史文章,杂志文章
doi：10.1007/s00393-019-00730-0
更新日期：2020-06-01 00:00:00
abstract：:Cartilage destruction in arthritis and osteoarthritis is linked to aberrant cytokine and growth factor expression in the affected tissues. It becomes clear that the balance of protective and destructive cytokines is more important for the net destruction than the absolute levels of destructive mediators. IL-1 is a key...
journal_title：Zeitschrift fur Rheumatologie
pub_type： 杂志文章,评审
doi：10.1007/s003930050163
更新日期：1999-06-01 00:00:00
abstract：:In a twenty-nine year old female patient with progressive systemic sclerosis (scleroderma) (PSS) and an impressing involvement of the intestine (disturbance of the oesophageal motility, pseudo-obstruction, malabsorption) a spontaneous, asymptomatic pneumoperitoneum is observed. Perforation or pneumatosis cystoides int...
journal_title：Zeitschrift fur Rheumatologie
pub_type： 杂志文章
doi：
更新日期：1986-03-01 00:00:00
abstract：:Tocilizumab, a monoclonal humanized antibody against IL-6, was licensed in January 2009 in combination with Methotrexate for the treatment of adult patients with moderately to severely active rheumatoid arthritis and inadequate response to one or more DMARDs or TNF antagonists. Tocilizumab is given once every 4 weeks ...
journal_title：Zeitschrift fur Rheumatologie
pub_type： 杂志文章
doi：10.1007/s00393-009-0529-0
更新日期：2010-09-01 00:00:00
abstract：:Interstitial nephritis is responsible for about 12 % of end-stage renal disease in Germany. It comprises an etiologically heterogenous group of inflammatory renal disorders which primarily affect the renal interstitium and tubuli. Drugs, predominantly antibiotics, nonsteroidal anti-inflammatory drugs and proton pump i...
journal_title：Zeitschrift fur Rheumatologie
pub_type： 杂志文章,评审
doi：10.1007/s00393-014-1482-0
更新日期：2015-05-01 00:00:00
abstract：:Bone morphogenetic proteins (BMPs) belong to the transforming growth factor-beta superfamily. Their potential for organ and tissue regeneration and repair has been intensively investigated in recent years. Studies on fetal development have demonstrated the important role of these proteins for the development and diffe...
journal_title：Zeitschrift fur Rheumatologie
pub_type： 杂志文章,评审
doi：10.1007/s00393-005-0665-0
更新日期：2005-09-01 00:00:00
abstract：BACKGROUND:Systemic lupus erythematosus (SLE) is a chronic inflammatory autoimmune disease affecting a broad range of different organ systems and, hence, presenting with multiple symptomatic domains, which considerably reduces the quality of life of patients. Within the last decade the prognosis of the disease has been...
journal_title：Zeitschrift fur Rheumatologie
pub_type： 杂志文章,评审
doi：10.1007/s00393-014-1556-z
更新日期：2015-09-01 00:00:00
abstract：BACKGROUND:Sex-specific differences in the prevalence and severity of immune disorders are well-known phenomena; however, it is only recently that we have begun to understand the possible causes of such differences. MATERIAL AND METHODS:A literature search on this topic was carried out and the results are summarized. ...
journal_title：Zeitschrift fur Rheumatologie
pub_type： 杂志文章,评审
doi：10.1007/s00393-014-1357-4
更新日期：2014-09-01 00:00:00
abstract：AIM:To gather information about current structures in rheumatologic ambulatory health care in Germany. Based on the results recommendations on future structures will be evaluated. METHODS:Data collection and statistical analysis via a structured 10-page questionnaire answered by members of the German Association of Rh...
journal_title：Zeitschrift fur Rheumatologie
pub_type： 杂志文章
doi：10.1007/s00393-007-0190-4
更新日期：2007-11-01 00:00:00
abstract：:We report on a 39-year-old male patient suffering from seropositive rheumatoid arthritis who developed severe colitis during oral gold (Auranofin) therapy. So far, two further cases of colitis during oral, and 28 cases of enterocolitis during parenteral chrysotherapy have been described. The pathomechanism has not bee...
journal_title：Zeitschrift fur Rheumatologie
pub_type： 杂志文章
doi：
更新日期：1987-07-01 00:00:00
abstract：:Facing increasing health-related costs and limited health care resources, the assessment of cost effectiveness (CE) of medical procedures is also gaining considerable importance in the field of rheumatology. Since high annual therapy costs of 17,000-21,000 Euro are related to the employment of TNF-alpha blocking agent...
journal_title：Zeitschrift fur Rheumatologie
pub_type： 杂志文章,评审
doi：10.1007/s00393-002-1207-7
更新日期：2002-01-01 00:00:00
abstract：:Childhood onset rheumatic and musculoskeletal diseases often continue into adulthood. These diseases are associated with a high risk of permanent disability and impairment in the quality of life of people affected. Adolescence and young adulthood represent a particular risk phase for an unfavorable long-term outcome. ...
journal_title：Zeitschrift fur Rheumatologie
pub_type： 杂志文章,评审
doi：10.1007/s00393-016-0140-0
更新日期：2016-08-01 00:00:00
abstract：:Systemic sclerosis (SSc) is a polymorphic and heterogenic systemic disorder with inflammation, fibrosis and vascular damage. Early diagnosis and classification may be difficult if disease expression is oligosymptomatic (undifferentiated), presenting with only Raynaud's phenomenon or limited scleroderma. Scleroderma sp...
journal_title：Zeitschrift fur Rheumatologie
pub_type： 杂志文章,评审
doi：10.1007/s00393-006-0065-0
更新日期：2006-07-01 00:00:00
abstract：:This review presents data on morbidity and mortality in patients with spondyloarthritis (SpA). Morbidity in patients with SpA is mainly determined by impairment of function and development of structural lesions. The course of illness in patients with ankylosing spondylitis (AS) is influenced by comorbidities, such as ...
journal_title：Zeitschrift fur Rheumatologie
pub_type： 杂志文章,评审
doi：10.1007/s00393-011-0757-y
更新日期：2011-08-01 00:00:00
abstract：:Health services research in rheumatology investigates the healthcare needs, the quality of care and trends in healthcare for patients with musculoskeletal disorders. Using rheumatoid arthritis (RA) as an example, key results of health services research during the last 25 years are summarized. There are currently appro...
journal_title：Zeitschrift fur Rheumatologie
pub_type： 杂志文章
doi：10.1007/s00393-013-1258-y
更新日期：2014-03-01 00:00:00
