Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011633 (dermatomyositis)
 4,181 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Mammalian Mi-2, an auto-antigen for dermatomyositis, is known to be an adenosine triphosphate (ATP)-dependent nucleosome remodelling factor. The Drosophila homologue of Mi-2 (dMi-2) gene is located at 76D5-6 on the left arm of the third chromosome and is transcribed into two alternate transcripts (dMi-2a and dMi-2b). Both transcripts are present at high levels in the ovary and during the first 8 h of embryogenesis when detected by Northern blot analysis. The localization of protein was nuclear, which is consistent with its proposed function as a component of the chromatin remodelling complex. Several lines of recessive mutants including mutations in dMi-2 were isolated and classified into four different complementation groups. Four alleles of dMi-2 mutants were further characterized in molecular nature; dMi-2(BL1) was found to have a mutation in the ATP-binding motif of the ATPase domain, dMi-2(BL7) in the core histidine of the first plant homeodomain zinc finger and dMi-2(BL12) in a conserved serine in the chromodomain. On the other hand, dMi-2(BL3) did not have any change in the coding region. The expression pattern of dMi-2 and the embryonic lethal phenotypes of mutants indicate that dMi-2 is essential for embryonic development in Drosophila melanagaster.
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PMID:Genetic characterization of Drosophila Mi-2 ATPase. 1213 48

A 61-year-old man was admitted to our hospital because of edematous erythema on his upper eyelids and dry cough. No subjective nor objective findings suggestive of skeletal muscle involvement, such as muscle weakness and elevated levels of aldolase and creatine phosphokinase were noted. Chest high-resolution computed tomography revealed a ground glass opacity and consolidation of his lower lung. Skin biopsy findings were compatible with dermatomyositis. Therefore, he was diagnosed as amyopathic dermatomyositis (ADM) with acute interstitial pneumonia and treatment with steroid pulse therapy was started. Since histological evaluation showed diffuse alveolar damage during the initial treatment, the treatment was changed into the combination therapy of prednisolone and cyclosporine. However, his acute interstitial pneumonia did not respond to this treatment and passed away by aggravation of a breathing state and concurrence of disseminated intravascular coagulation. Japanese patients with ADM have been shown to be more frequently associated with intractable acute interstitial pneumonia than Caucasian patients, suggesting that the racial difference influences the occurrence of acute interstitial pneumonia in ADM. Since autoantibodies specific for ADM have not been detected, we performed immunoprecipitation analysis using 35S methionine-labeled K562 cells to identify them. His sera immunoprecipitated a polypeptide of 140 kDa. The 140 kDa polypeptide might be one of autoantibodies specific for ADM with acute interstitial pneumonia, although future analysis using a larger number of patients with ADM will be required to confirm this result.
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PMID:[A case of amyopathic dermatomyositis with acute interstitial pneumonia (DAD pattern)]. 1516 31

Serum cytokines were evaluated in a patient with intravascular lymphomatosis (IVL). A 62-year-old man was admitted to our hospital for his general malaise, arthralgia, and high-grade fever. He was diagnosed as dermatomyositis, initially. His symptoms were improved by high dose of corticosteroid and immunosuppressive therapy. However his condition deteriorated gradually, and died ten months after the onset of symptoms. Postmortem examination revealed IVL (B cell type). The serum concentrations of inflammatory cytokines, IL-6 and TNF-alpha, were elevated. Level of serum IFN-y was high only at the end of his illness. Serum IL-2 was not detected during the course. Serum IL-4 was slightly elevated. Elevated CRP and hypoalbuminemia might be related to the elevation of these inflammatory cytokines. The clinical diagnosis of IVL is usually difficult because of the absence of specific clinical manifestations and laboratory findings. The time course and/or concentrations of serum cytokines could be a key to make an early diagnosis.
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PMID:[Patient with intravascular lymphomatosis: Changes with time in concentrations of serum cytokines]. 1657 73

We herein describe a 16-year-old boy with pneumomediastinum, pneumothorax, and subcutaneous emphysema as the initial symptoms of dermatomyositis (DM). His pneumomediastinum disappeared after strict bed rest and he was thereafter successfully treated with oral prednisolone and cyclosporine A. His condition was further complicated with mild interstitial lung disease, arrhythmia, and skin ulcers on his fingertips, right elbow, ear, and sacral region. Pneumomediastinum is a rare complication of DM and its pathogenesis remains unclear. We review the literature and discuss the possible mechanism of this disease.
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PMID:A case of dermatomyositis complicated with pneumomediastinum. 1743 73

Pneumomediastinum is a rare complication of dermatomyositis (DM) and Polymiositis (PM). We report here three cases of PM/DM who developed pneumomediastinum. First case was 61 years old woman with amyopathic dermatomyositis (aDM). Her aDM was complicated with skin ulceration due to vasculopathy, but complicated interstitial pneumonia was not severe. She developed subcutaneous emphysema and pneumomediastinum. Second case was 57 years old woman with DM, who had intractable skin phenomena and mild interstitial pneumonia. The patient became subcutaneous emphysema and pneumomediastinum following severe vasculopathy of skin. The last case was 63 years old man with PM. His PM was complicated with interstitial pneumonia. He had intractable respiratory symptom. Ten years later, he became subcutaneous emphysema and pneumomediastinum following pneumothorax. First and second cases suggest that their pneumomediastinum were due to vasculopathy. On the other hand, pneumomediastinum of the last patient seemed to be associated with interstitial pneumonia and steroid.
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PMID:Three cases of polymyositis/dermatomyositis complicated by pneumomediastinum. 1831 Oct 43

Dermatomyositis (DM) is an idiopathic inflammatory myopathy (IIM) with typical cutaneous manifestations. It has been proposed that DM may be caused by autoimmune responses to viral infections, and previous studies have also shown that an association between DM and malignancy. However, chronic hepatitis B virus (HBV) infection associated with DM and hepatocellular carcinoma (HCC) is rarely encountered. The authors report a case of DM and HCC in a patient with a HBV infection. A 58-year-old man presented erythematous skin rashes on a sun-exposed area of 2 year's duration, and recent proximal muscle weakness. His medical history revealed that he had a chronic HBV infection. A diagnosis of DM relies on proximal muscle weakness, elevated muscle enzymes, myopathic changes (demonstrated by electromyography), muscle biopsy evidence of myositis, and its characteristic cutaneous findings. A Liver mass in the left lobe visualized by abdominal computed tomography was confirmed histologically as HCC. This case suggests that DM associated with HCC might be caused by a HBV infection.
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PMID:Dermatomyositis associated with hepatitis B virus-related hepatocellular carcinoma. 1880 99

A 57-year-old man had been suffering from dermatomyositis and systemic sclerosis presenting interstitial pneumonia since Jan, 2004. On February 2, 2005, he was admitted to our hospital because of thrombocytopenia, hematuria and proteinuria continuing from January, 2005. Hemolytic anemia and thrombocytopenia progressed, and fragmented red cells were present in peripheral blood on the 11th hospital day. Thrombotic microangiopathy (TMA) was diagnosed and he was treated with plasma infusion and methylprednisolone pulse therapy. Bloody sputum and hypoxia were observed, and HRCT of the chest on the 12th hospital day revealed multiple infiltrates and consolidations throughout all lung fields. His hypoxia was exacerbated and he was placed on a ventilator on the 13th hospital day. Bronchoscopic examination showed bleeding from both bronchi and he was diagnosed with complicating diffuse alveolar hemorrhage. He died of progressive respiratory failure. TMA and diffuse alveolar hemorrhage are rare but important complications of dermatomyositis and systemic sclerosis and need special care.
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PMID:[A fulminant case of systemic sclerosis/dermatomyositis complicating thrombotic microangiopathy and diffuse alveolar hemorrhage]. 1934 71

A 52-year-old man was admitted to our hospital for progressive dyspnea of 3 months duration and a skin rash of 4 months duration. Previously, he had been given a diagnosis of rheumatoid arthritis at age 40, then a diagnosis of interstitial pneumonia at age 46. Tacrolimus and prednisolone were begun at age 50, and 50 mg/week of etanercept was added 17 months before admission to our hospital. Due to renal dysfunction, tacrolimus was discontinued 9 months before admission. A skin rash developed 4 months before admission, and progressive dyspnea developed over the 3 months before admission. Tacrolimus was restarted at 1 mg/day and prednisolone was increased from 5 mg/day to 15 mg/day; however, neither the skin rash nor the dyspnea improved. After visiting a local physician, the patient was then referred to our institution. On presentation, skin changes such as erythema of the superior palpebrae and fingers were noted. His serum creatine phosphokinase level was elevated, but muscle strength was normal and no abnormal electromyographic and muscle biopsy findings were found. Anti-Jo-1 antibody was negative but anti PL-7 antibody was positive. The patient did not meet the diagnostic criteria of dermatomyositis/ polymyositis, so antisynthetase syndrome was diagnosed. Etanercept was discontinued and the prednisolone increased, which resulted in improvement of the interstitial pneumonia and skin rash. Antisynthetase syndrome should be considered as a differential diagnosis when skin rash and exacerbation of interstitial pneumonia are found during treatment for rheumatoid arthritis.
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PMID:[Antisynthetase (anti PL-7 antibody) syndrome presenting as a skin rash and exacerbation of interstitial pneumonia during treatment for rheumatoid arthritis]. 2038 31

We herein report a 3 year-old boy, who showed proximal muscle weakness and pain at the age of one and a-half years. When he visited our hospital at the age of 1 year and 11 months, he could hardly move by himself. He also had difficulty in swallowing and suffered from multiple dermal ulcers. His blood test showed slightly elevated muscle enzyme activity, and magnetic resonance imaging suggested severe inflammation of the muscles. Radiological examination proved hypoperistalsis of the esophagus. With additional skin and muscle biopsies, we diagnosed him with juvenile dermatomyositis (JDM). Methyl-prednisolone pulse therapy was not effective enough, thus oral methotrexate, cyclosporine A and monthly cyclophosphamide pulse therapy were added. After the fourth cyclophosphamide pulse therapy, his muscular strength was restored, and the ulcers healed dramatically. Due to scarcity of severe cases, neither standardized classification nor grading system for severity in JDM has ever been established, which perplexes physicians in finding the best therapeutic strategy. Further investigation, experience and efforts are necessary to standardize an evaluating system and therapeutic strategy against JDM.
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PMID:[Effective cyclophosphamide pulse therapy for an young infant with severe dermatomyositis]. 2180 Jun 97

This report reviews a case of dermatomyositis presenting with weakness and extensive calcification in an adult. While dermatomyositis is not uncommon in adults, it is uncommon for calcifications to be present. Children develop calcifications more frequently than adults. When present in adults, small calcifications on areas of frequent trauma such as elbows and fingers are more common. However, this patient presented with large calcified deposits in his abdomen and extremities. His treatment and course are described.
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PMID:Dermatomyositis with extensive calcification in an adult. 2246 49


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