Altered growth and function of synoviocytes, the intimal cells which line joint cavities and tendon sheaths, occur in a number of skeletal diseases. Hyperplasia of synoviocytes is found in both ...rheumatoid arthritis and osteoarthritis, despite differences in the underlying aetiologies of the two disorders. We have studied the autosomal recessive disorder camptodactylyarthropathy-coxa vara-pericarditis syndrome (CACP; MIM 208250) to identify biological pathways that lead to synoviocyte hyperplasia, the principal pathological feature of this syndrome. Using a positional-candidate approach, we identified mutations in a gene (CACP) encoding a secreted proteoglycan as the cause of CACP. The CACP protein, which has previously been identified as both megakaryocyte stimulating factor precursor' and 'superficial zone protein', contains domains that have homology to somatomedin B, heparin-binding proteins, mucins and haemopexins. In addition to expression in joint synovium and cartilage, CACP is expressed in non- skeletal tissues including liver and pericardium. The similarity of CACP sequence to that of other protein families and the expression of CACP in non- skeletal tissues suggest it may have diverse biological activities.
We report a case of Behcet's syndrome with myositis in a pediatric patient, emphasizing the importance of muscle involvement in the differential diagnosis of calf pain and swelling in Behcet's ...syndrome. A review of the English‐language literature from 1965 to the present suggests that the clinical picture of Behcet's syndrome in children differs from that in adults, in that there is a lower frequency of ocular disease, and unusual manifestations appear to be more common.
Recent observations that juvenile dermatomyositis (JDMS) may be a heterogenous disorder, in both its clinical course and prognosis, suggest that subgroups of patients with this disease may respond to ...various modes of therapy. Therefore, current treatment recommendations of daily, long‐term oral corticosteroid treatment, with its attendant side effects, may not be necessary for all children with JDMS. We report the results of treatment with high‐dose, pulse intravenous methylprednisolone in 7 children with JDMS, 3 of whom had an excellent response with complete remission and no need for daily steroid therapy. We suggest that patients with early, mild JDMS may be candidates for therapy with intravenous methylprednisolone.
We describe a 16‐year‐old girl with systemic‐onset juvenile arthritis who presented with pulmonary hypertension, without evidence of pleural or parenchymal involvement of the lung, pulmonary ...vasculitis, or immune deposition in the pulmonary vasculature. Pleuropulmonary involvement occurs occasionally in juvenile arthritis, but primary pulmonary hypertension has not, to our knowledge, been previously reported. Histocompatibility typing showed positivity for HLA‐DR3 and DRw52, both of which are associated with idiopathic pulmonary hypertension in children, and with pulmonary hypertension among patients with systemic sclerosis. Treatment with cyclosporine and corticosteroids resulted in a marked improvement in the clinical findings and pulmonary function in our patient.
Idiopathic subperiosteal new bone formation is uncommon in childhood. We report a case of diffuse periostitis in association with hypergammaglobulinemia and hypoalbuminemia in a 12‐year‐old boy. In ...1966, 2 cases of idiopathic periosteal hyperostosis with accompanying dysproteinemia were documented. This report serves as a review of this unique and perplexing problem in clinical diagnosis.
A comprehensive data warehouse framework is needed, which encompasses imaging and non-imaging information in supporting disease management and research. The authors propose such a framework, describe ...general design principles and system architecture, and illustrate a multimodality neuroimaging data warehouse system implemented for clinical epilepsy research. The data warehouse system is built on top of a picture archiving and communication system (PACS) environment and applies an iterative object-oriented analysis and design (OOAD) approach and recognized data interface and design standards. The implementation is based on a Java CORBA (Common Object Request Broker Architecture) and Web-based architecture that separates the graphical user interface presentation, data warehouse business services, data staging area, and backend source systems into distinct software layers. To illustrate the practicality of the data warehouse system, the authors describe two distinct biomedical applications--namely, clinical diagnostic workup of multimodality neuroimaging cases and research data analysis and decision threshold on seizure foci lateralization. The image data warehouse framework can be modified and generalized for new application domains.
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