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An extra cysteine in one of the non calcium binding EGF-like motifs of the FBN1 polypeptide is connected to a novel variant of Marfan syndrome

We present here a family with a clinical phenotype resembling Marfan syndrome (MFS), and displaying joint contracture and episodes of knee joint effusions, but lacking the cardiovascular features of the syndrome. The phenotype of this family represents a unique mixture of connective tissue symptoms, some of which are found in classical MFS and some of which are typical of dominant ectopia lentis.

Increased release of bone sialoprotein into synovial fluid reflects tissue destruction in rheumatoid arthritis

Objective. Bone sialoprotein (BSP) was quantified in synovial fluids and sera from rheumatoid arthritis (RA) patients to elucidate whether its release from bone relates to the degree of joint tissue destruction. Osteocalcin was assayed for comparison. Methods. BSP and osteocalcin levels were determined by immunoassays of knee synovial fluids and of sera from RA patients who were selected on the

Matrix proteins: Potentials as body fluid markers of changes in the metabolism of cartilage and bone in arthritis

Altered dynamics of cartilage and bone matrix in joint diseases results in increased release of macromolecules into synovial fluid (SF). Such macromolecules are increasingly explored as potential markers of damage and severity. This report focuses on the possibilities of using quantification of tissue specific markers for grading the tissue lesion at the molecular level in arthritis. The theoretic

Differential release of molecular markers in joint disease

Cartilage and bone, the principal tissues of the diar-throdial joint, are dynamic tissues with continuous matrix turnover. These tissues, like all connective tissues, contain few cells surrounded by an abundant matrix. The cells, e.g. the chondrocytes in cartilage, regulate both synthesis and degradation of the matrix constituents in response to various environmental factors, such as hormones, nut

Pristance-induced arthritis in rats: a new model for rheumatoid arthritis with a chronic disease course influenced by MHC and non-MHC genes

We present a novel animal model for rheumatoid arthritis induced with a well defined synthetic adjuvant oil, pristane. Two weeks after a single intradermal injection of 150 microliters of pristane, the rats developed severe and chronic arthritis. The inflammation was restricted to the joints and involved pannus formation, major histocompatibility complex (MHC) class II expression, and T lymphocyte

Cartilage matrix macromolecules in joint fluid of temporomandibular joints before and six months after diskectomy

The purpose was to investigate if antigenic fragments of aggrecan and cartilage oligomeric matrix protein (COMP) are detectable by enzyme-linked immunosorbent assay in lavage fluids from the temporomandibular joint (TMJ) and to examine if the relative content of these cartilage markers changes during development of osteoarthrosis (OA) after diskectomy. Lavage fluid was obtained at surgery and 6 mo

Serum analyses of tissue derived macromolecules and markers of inflammation in early rheumatoid arthritis. Relation to development of joint destructions in hands and feet

SUMMARY We have previously shown that serum concentrations of cartilage oligomeric matrix protein (COMP) are increased early in rheumatoid arthritis (RA) patients who subsequently develop advanced large-joint destruction. A prognostic value for joint damage of serum concentrations of hyaluronan (HA) is also suggested by previous studies. In contrast, serum concentrations of bone sialoprotein (BSP)