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Immunofluorescence
Published in Guy Cox, Fundamentals of Fluorescence Imaging, 2019
IIF testing led to the detection of autoantibodies in various autoimmune diseases, including systemic lupus erythematosus, scleroderma, dermatomyositis, and mixed connective tissue disease. Certain autoantibodies produced distinct patterns of staining since they reacted with specific organelles in the nucleoplasm, nuclear membrane, nucleolus, or cytoplasm. An outstanding example is an autoantibody in the CREST (calcinosis, Raynaud’s phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia) subset of scleroderma, in which immunostaining revealed a limited number of dots in the nucleoplasm of interphase cells, but a total redistribution of these dots to the centromeric regions of condensed chromosomes of cells in mitosis. It became clear that there were multiple autoantibodies of different specificities in any individual autoimmune disease, a few autoantibodies were disease specific, and different autoantibody profiles were associated with different diseases [48].
Clinical Applications of Immunoassays
Published in Richard O’Kennedy, Caroline Murphy, Immunoassays, 2017
Systemic sclerosis is a multisystem connective tissue disorder and is characterised by thickening and fibrosis of the skin (scleroderma). There are two disease patterns comprising diffuse cutaneous systemic sclerosis (dcSS) and limited cutaneous systemic sclerosis (lcSS) based on the extent of skin involvement. In dcSS, sclerotic skin is seen on the trunk and proximal limbs as well as face and distal limbs and is associated with a worse prognosis. In lcSS, scleroderma is restricted to the face, neck and limbs distal to the elbow and knee and generally has a better prognosis when compared to dcSS. Many patients with lcSS have the CREST syndrome, which is an acronym for calcinosis, Raynaud’s disease, esophageal dysmotility, sclerodactyly and telangiectasia.
Case series: rheumatological manifestations attributed to exposure to Libby Asbestiform Amphiboles
Published in Journal of Toxicology and Environmental Health, Part A, 2018
Roger Diegel, Brad Black, Jean C. Pfau, Tracy McNew, Curtis Noonan, Raja Flores
The patient was first seen at CARD in 2002 and then again in late-2009 when he reported breathing trouble over the last year or two when singing, and occasional sharp pains on the side of his chest. He was diagnosed with bilateral pleural thickening and sub-pleural interstitial changes. He was most recently seen at CARD in early-2014 and reported feeling somewhat better due to weight loss but continues with respiratory symptoms including chronic cough. His pulmonary function remained stable from 2002 to 2014. His most recent PFT in 2017 showed FVC 88%, FEV1 92%, and DLCO 117%. The patient was diagnosed with CREST variant of systemic sclerosis. The symptoms began with arthralgias in 1991 and 1992. The arthralgias continued and the patient saw a rheumatologist. A work up included X-rays of his hands, which were normal, no erosive disease. ANA test of 1:640 with negative SSA, negative SSB, negative double stranded DNA antibody, negative anti-Smith antibody, negative RNP antibody, negative rheumatoid factor, negative Lyme. A right forearm nodule was biopsied and revealed a subcutaneous granuloma, most consistent with a rheumatoid nodule. Sub-acute granuloma anulare was also considered in the differential. The patient was placed on hydroxychloroquine without any relief of the arthralgias. The patient was at that time diagnosed with undifferentiated connective tissue disease (UCTD). He started developing severe fatigue in August 1996, and Raynaud’s symptoms in July 1998. In 2000 and 2001, he began developing nodules on his forearms, thighs, lower extremities, hands, and fingers. Biopsy revealed multicentric reticulohistiocytosis. The symptoms continued, the Raynaud’s worsened, and he began developing sclerodactyly in his fingers, loss of pulp in the digits of his fingers and developed sclerodermatous facial features. He was diagnosed with a CREST variant of systemic sclerosis in March 2006. An ANA test in November 2001 had a titer greater than 1:320, and in January 2002, ANA titer was greater than 1:320. No reported ENA values.