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10.1186/ar4533

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suck abstract from ncbi


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pmid24713464
      Arthritis+Res+Ther 2014 ; 16 (2 ): R89
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  • Ultrasonographic assessment reveals detailed distribution of synovial inflammation in Blau syndrome #MMPMID24713464
  • Ikeda K ; Kambe N ; Takei S ; Nakano T ; Inoue Y ; Tomiita M ; Oyake N ; Satoh T ; Yamatou T ; Kubota T ; Okafuji I ; Kanazawa N ; Nishikomori R ; Shimojo N ; Matsue H ; Nakajima H
  • Arthritis Res Ther 2014[Apr]; 16 (2 ): R89 PMID24713464 show ga
  • INTRODUCTION: Arthritis is the most frequent manifestation of Blau syndrome, an autoinflammatory disorder caused by the genetic mutation of NOD2. However, detailed information on arthritis in Blau syndrome on which the therapeutic strategy should be based on is lacking. This multi-center study aimed to accurately characterize the articular manifestation of Blau syndrome and also to demonstrate the utility of musculoskeletal ultrasound in Blau syndrome. METHODS: Patients who had been diagnosed with Blau syndrome by genetic analysis of NOD2 were recruited. A total of 102 synovial sites in 40 joints were assessed semiquantitatively by ultrasound for gray-scale synovitis and synovial power Doppler (PD) signal. RESULTS: In total, 10 patients whose age ranged from 10 months to 37 years enrolled in this study. Although only 4 joints (0.8%) were tender on physical examination, 81 joints (16.9%) were clinically swollen. Moreover, 240 (50.0%), and 124 (25.8%) joints showed gray-scale (GS) synovitis and synovial PD signal on ultrasound, respectively. Importantly, GS synovitis was present in 168 out of 399 non-swollen joints, in which 61 also exhibited synovial PD signal. Among 40 joint regions, the ankle, the wrist, and the proximal interphalangeal joints were the most frequently and severely affected joints. Comparisons between different synovial tissues demonstrated a significantly higher proportion of the joints with tenosynovitis as compared with that with intra-articular synovitis (41.5% versus 27.9%, P?
  • |Adolescent [MESH]
  • |Adult [MESH]
  • |Arthritis [MESH]
  • |Child [MESH]
  • |Child, Preschool [MESH]
  • |Cranial Nerve Diseases/*diagnostic imaging/genetics/pathology [MESH]
  • |Cross-Sectional Studies [MESH]
  • |Female [MESH]
  • |Humans [MESH]
  • |Infant [MESH]
  • |Male [MESH]
  • |Mutation [MESH]
  • |Nod2 Signaling Adaptor Protein/genetics [MESH]
  • |Sarcoidosis [MESH]
  • |Synovial Membrane/*diagnostic imaging/pathology [MESH]
  • |Synovitis/*diagnostic imaging/genetics/pathology [MESH]
  • |Ultrasonography, Doppler [MESH]
  • |Uveitis/*diagnostic imaging/genetics/pathology [MESH]


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