Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:4.1.2.13 (aldolase)
 3,461 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The patient is 48 year-old female who has been followed as MCTD with nonsteroidal therapies for 18 years. Sometimes she has been attached by focal severe muscle pain. One year ago, she had general myalgia associated with high fever and arthralgia. The results of the examination, aldolase, GOT, GPT, gamma-GTP, CRP and leucocyte were increased. Muscle biopsy showed noncaseating epithelioid granuloma being in contact with enlarged injected vessels. Out of tough with granuloma, a few fibre necroses, fibrosis of muscle, and degeneration of collagen fiber were recognized. After treatment of nonsteroidal antiinflammatory agents, her every complain was removed. Her muscle looks normal herself. MCTD has myopathy caused by inflammatory infiltrates and fibre necroses. But granulomatous myositis is very rare. It is difficult to differentiate our case from sarcoidosis, especially acute isolated muscle sarcoidosis.
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PMID:[A case of mixed connective tissue disease associated with uncommon acute myopathy caused by isolated muscle epithelioid granuloma]. 221 39

A 65-year old man with mixed connective tissue disease (MCTD) and severe therapy resistant polymyositis was considered for high-dose cyclophosphamide (200 mg/kg) supported by autologous stem cell transplantation (ASCT). During a 21 months follow-up there has been a significant subjective, but objectively only a slight improvement in muscle strength. Initially the levels of serum creatine kinase and serum aldolase normalised, but are at 21 months at about the same level as before ASCT. Based on histopathological examination there is still active myositis. Our case would suggests that this treatment may have some efficacy in MCTD with severe polymyositis although longer follow-up is needed.
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PMID:Autologous peripheral blood stem cell transplantation in a patient with severe mixed connective tissue disease. 1109 1