Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0005940 (bone disease)
 7,459 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Factors regulating the interaction between bone marrow haemopoietic cells, stromal elements and bone growth are poorly understood. Disturbance in the equilibrium between these elements can occur as the result of metabolic bone disease, haematologic disorders, neoplasia and infections. The present report concerns a child with myelofibrosis, hypoplastic/dyserythropoietic anaemia, osteoblast proliferation and increased bone formation. A positive tuberculin skin test and elevated EB virus titre indicated previous exposure to Mycobacterium tuberculosis and Epstein-Barr virus. No active focus of infection was identified and no improvement occurred following anti-tuberculous therapy. A dramatic improvement occurred on corticosteroid therapy. Reticulocytosis was followed by an increase in haemoglobin and platelets and a decrease in ESR. Bone marrow fibrosis resolved and the marrow was repopulated with normal haemopoietic tissue. The bone abnormalities improved both radiologically and histomorphometrically. Relapse occurred when steroids were discontinued. Bone marrow tissue culture supernate from the patient during the active phase of the disease inhibited colony formation by normal marrow mononuclear cells. This was reversed by steroid therapy. It is postulated that EB virus may have triggered osteoblast proliferation with resultant bony and haematologic changes. Response to corticosteroids could be explained on the basis of suppression of osteoblast activity and correction of fibroblast mediated suppression of haemopoiesis.
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PMID:Bone growth and haemopoiesis: steroid reversible anaemia, myelofibrosis and increased bone formation in a child. 359 56

Fibrogenesis imperfecta ossium (FIO) is an extremely rare, acquired, metabolic bone disease related to a collagen defect in bone matrix inducing spontaneous fractures. Among the 17 cases of FIO reported to date, four patients exhibited a monoclonal gammopathy (MCG) and one, treated with melphalan, was the first patient to present clinical and histological remission of the bone and plasma cell manifestations. We report the case of a 56-year-old woman who suffered spontaneous fractures of both patellae and olecranons. Skeletal X-rays showed generalized coarse, ill-defined trabeculae. The following biological parameters were abnormal: ESR: 50 mm/hour, alkaline phosphatase (AP) 256 IU/liter [normal (N): 40-110], serum IgG kappa light chain 11 g/liter, bone marrow aspirate 9% atypical plasma cells. Iliac crest biopsy showed the features of FIO including evidence of osteomalacia and nonbirefringent osteoid seams under polarized light. Eroded surfaces were increased, and trabecular bone volume was decreased. Melphalan (4 mg/day) was given in 1988 and was interrupted 1 year later because of leucopenia. Clinical status worsened. A second bone biopsy in 1989 showed identical features of FIO. In November 1990, an X-ray film showed several fractures, and coarser trabeculae. The patient died in December 1991. Regarding the prevalence of MCG and FIO, their association is unlikely accidental. The collagen defect might be related to a plasma cell-induced osteoblast impairment.
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PMID:Fibrogenesis imperfecta ossium: ineffectiveness of melphalan. 878 Oct 45