Displaying all 3 publications

Abstract:
Sort:
  1. Yap WF, Chong HC
    Int J Rheum Dis, 2020 Nov;23(11):1568-1573.
    PMID: 32969582 DOI: 10.1111/1756-185X.13965
    FBN1 gene encodes for the connective tissue protein fibrillin-1 which can also regulate the profibrotic cytokine transforming growth factor (TGF)-ß1. Mutations in the FBN1 gene cause Marfan syndrome (MFS), a genetic condition with defective connective tissues. FBN1 haplotypes and single nucleotide polymorphisms have also been reported to be associated with systemic sclerosis (SSc), a connective tissue disease characterized by fibrosis of multiple organs. Furthermore, the duplication of the Fbn1 gene causes a SSc-like disease in the TsK1 mouse model. To the best of our knowledge, there are no reports of MFS and SSc co-existing in a patient. Here, we describe a 46-year-old woman who presented with cardiac failure. She had a family history of MFS. Physical examination revealed marfanoid habitus and scleroderma features. Echocardiography demonstrated dilated cardiomyopathy with aortic root dilatation, aortic regurgitation and mitral regurgitation. Cardiac magnetic resonance imaging was consistent with dilated cardiomyopathy, mid-wall fibrosis at basal septal wall and dilated aortic root. Extractable nuclear antigen panel detected anti-Scl 70. She fulfilled Ghent criteria for MFS and satisfied American College of Rheumatology/ European League Against Rheumatism classification criteria for SSc. Although we do not have the FBN1 sequence in our patient, the co-existence of MFS and SSc in this patient raises the possibility of co-existence of distinct mutations in the FBN1 gene that could affect TGF-β signaling differently, resulting in divergent pathologic consequences - loss of structural integrity in MFS versus increased extracellular matrix deposition in SSc, and different clinical manifestations.
  2. Chai WL, Phang YH, Chong HC
    MyJurnal
    Tumoral calcinosis is an uncommon condition which has been described to exist in primary and secondary forms. A lack of awareness of this entity can lead to unnecessary procedures and incorrect management. We report a case of a patient on peritoneal dialysis who presented with multiple painful joint swellings to the orthopaedic department. An initial diagnosis of septic arthritis was made, then revised to chronic tophaceous gout and referred to the rheumatology unit.
  3. Tan BE, Lim AL, Kan SL, Lim CH, Tsang EEL, Ch'ng SS, et al.
    Rheumatol Int, 2017 Oct;37(10):1719-1725.
    PMID: 28695274 DOI: 10.1007/s00296-017-3772-8
    The effect of biologic disease modifying anti-rheumatic drugs (bDMARDs) in treating rheumatoid arthritis (RA) in real-world clinical practice remains unknown in Southeast Asia. We aimed to assess the efficacy and safety of bDMARDs among Malaysian RA patients treated in routine clinical practice. A retrospective medical chart review of RA patients from 11 government hospitals were conducted from January 2003 to January 2014. A standardized questionnaire was used to abstract patient's demographic, clinical and treatment data. Level of disease activity was measured by DAS28 collected at baseline, 3, 6 and 12 months. Three hundred and one patients were available for analysis, mean age 41 (SD, 10.8) years, mean RA duration 12.3 (SD, 6.9) years and 98% had history of two or more conventional-synthetic DMARDs. There were 467 bDMARD courses prescribed with mean bDMARDs duration use of 12.9 months (SD 14.7). Tumour necrosis factor alpha inhibitors were the most common prescribed bDMARDs (77.1%), followed by Tocilizumab (14.6%) and Rituximab (8.4%). We observed significant improvement in mean DAS28 values from baseline to 3, 6 and 12 months (p 
Related Terms
Filters
Contact Us

Please provide feedback to Administrator (afdal@afpm.org.my)

External Links