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

Somatic mutant frequencies (Mf) were determined using the HPRT T-cell cloning assay of peripheral blood T-lymphocytes from 14 children with juvenile onset dermatomyositis (JDM). Serologic parameters, specifically muscle enzyme determinations in JDM subjects, were correlated with residual lnMf (delta) in these patients to compare T-cell activation with clinical parameters associated with JDM. In addition TCR analysis was performed to determine T-cell proliferation and clonality on 12 HPRT mutant isolates from two individuals with JDM. Statistically significant correlations were found between residual lnMf and the following serologic parameters: aldolase (r = 0.771, P = 0.015); CPK (r = 0.602, P = 0.023); and SGOT (r = 0.656, P = 0.011) in children with JDM. In addition, identical TCR gene rearrangements were identified in 86 and 40% of the HPRT mutant isolates from the two patient samples analyzed, which is a significantly higher level of clonality than the 10-15% expected in normal individuals. These data suggest that determining HPRT Mf can be a useful antigen-independent method of selecting clonally expanding T-lymphocytes in autoimmune disease where relevant antigens are unknown. Future analysis of HPRT mutant isolates from children with active myositis may increase our understand of the activated T-cells involved in this disease.
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PMID:Association among somatic HPRT mutant frequency, peripheral blood T-lymphocyte clonality, and serologic parameters of disease activity in children with juvenile onset dermatomyositis. 1021 55

A 36-year-old man was admitted to our hospital complaining of cough, dyspnea on exertion, skin eruptions, and joint pain. Characteristic skin lesions such as erythema around the nails, telangiectasis, and edema of the eyelids were observed in this patient. He had never complained of muscle symptoms, and his laboratory examinations showed no elevation of either CPK or aldolase. From several lines of evidence including the skin biopsy findings, amyopathic dermatomyositis was diagnosed. Chest X-ray films showed subpleural funicular opacities and consolidation in both lower lung fields. Lung biopsy specimens taken under video-assisted thoracoscopic surgery revealed nonspecific interstitial pneumonia, group II. Oral prednisolone treatment was initiated at 60 mg daily together with oral cyclosporin A (100-150 mg daily). The minimum serum concentration of cyclosporin A was maintained between 100 and 200 ng/ml. Respiratory symptoms gradually improved, and the oral prednisolone dose was tapered off. Pulmonary function and chest CT findings showed marked improvement.
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PMID:[A case of nonspecific interstitial pneumonia associated with amyopathic dermatomyositis efficiently treated with a combination of cyclosporin A and prednisolone]. 1232 32

We encountered a case of psittacosis accompanied with rhabdomyolysis in a 66-year-old woman admitted to our hospital because of myalgia, fever, diarrhea, and disorientation. A chest CT scan showed air-space consolidation and ground-glass attenuation in the left lung. Laboratory findings showed elevation of CPK, myoglobin, and aldolase, consistent with rhabdomyolysis. She recovered after administration of intravenous erythromycin and steroid pulse therapy. Psittacosis was diagnosed from the history of exposure to pigeons and from elevation of the IgG titer for Chlamydia psittaci. Rhabdomyolysis is associated with some kinds of viral or bacterial infections. But few case reports have been found in the case of psittacosis. The mechanism whereby rhabdomyolysis complicates psittacosis is unknown. We suggest that psittacosis should be added to the list for differential diagnosis, when rhabdomyolysis develops in a patient with pneumonia.
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PMID:[A case of fulminant psittacosis with rhabdomyolysis]. 1238 28

Myopathy is a pathology of the muscle function, without clinical and instrumental signs that are involved the central nervous system and the peripheral one. In all pathologies causing a damage of the muscle fibres, a release of enzymes as GOT, GPT, LDH, aldolase, CPK occurs. The most significant enzyme for the muscle damage is CPK. Studies state that an increase of the CPKemia is not always an expression of muscle damages, but there are physiological changes in relation to the age, physical activities and racial variations. By the way, it is necessary to focus our attention on this matter. Authors, starting from the observation of lots of cases under their studies, have described two of them, that up to their careful observation could reveal significant.
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PMID:[Asymptomatic hyper-creatine-phosphokinasemia: a veritable disease? Observation in some cases]. 1578 34

A 57-year-old man underwent an autologous hematopoietic stem cell transplant for mantle cell lymphoma in August 1999. Anemia and thrombocytopenia appeared in November 2001. He was diagnosed with further hematological examination as having acute myeloid leukemia with multilineage dysplasia following secondary myelodysplastic syndrome. He received the allogeneic hematopoietic stem cell transplant from his HLA DRB1 locus mismatched brother in May 2002. The nonmyeloablative preparative regimen consisted of fludarabine 30mg/m2 for 6 days and busulfan 4mg/kg for 2 days. Eosinophilia, decrease of lacrimal fluid and liver dysfunction appeared on Day 104. We diagnosed this as chronic GVHD and treated the patient with prednisolone 10 mg/day. Thereafter, his chronic GVHD gradually improved. He had fever and myalgia in the extremities and lumbar region with elevated serum CPK and aldolase in January 2003. Histological examination led to a diagnosis of polymyositis simultaneously with chronic GVHD. Prednisolone 50 mg/day as an initial dose was started for the polymyositis following which the prednisolone dose was gradually tapered off. The polymyositis improved promptly after the administration of prednisolone and remains in remission with a current maintenance program of prednisolone 5 mg/day.
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PMID:[Chronic GVHD with polymyositis after non-myeloablative stem cell transplantation]. 1644 Aug 6

The condition of pale, soft, exudative (PSE) pork has long been considered to be mainly a post mortem phenomenon. There is now substantial evidence that such pigs are suffering from a kind of myopathy, which predisposes them to an abnormal post mortem metabolism. Genetic studies on PSE muscle indicate a moderate heritability for various post mortem muscle quality traits. Reliable methods for determining the abnormal condition in the live animal would make it possible to select more effectively and economically against stress and PSE-susceptibility. Three possible methods are: (1) Analysis of blood serum for CPK, aldolase, GOT or other enzyme activities with and without preceding exercise; and for blood groups. (2) Muscle biopsy analysis for glucose-6-phosphate, lactate or energy-rich phosphates. (3) Non-destructive testing of young pigs for sensitivity to the Malignant Hyperthermia Syndrome by allowing them to inhale the anaesthetic halothane (fluothane) for a 5 min period. The development of muscular rigidity and stiffness indicates a susceptibility to stress and a potential for PSE meat. The relationships of the various methods to ultimate muscle and carcass quality, as well as the problems inherent to each method, are discussed. It is concluded that the third test seems to be the most promising for application in the breeding of pigs for optimal stress resistance and muscle quality.
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PMID:Methods of predicting pale, soft, exudative pork and their application in breeding programmes-A review. 2205 69

Dermatomyositis represents an idiopathic inflammatory connective-tissue disease, characterized by inflammation of the muscles and the skin. There is a high incidence of malignancy in patients with dermatomyositis. The main purpose of the present paper is to describe and underline the clinical significance of dermatomyositis manifestations as a precursor and early clinical signs of small cell lung cancer. A physical examination, laboratory tests, anti-Jo-1 antibody and muscle biopsy were performed. The most important findings were SGOT 284 IU/L, CPK 11083 IU/L, aldolase 76.3 IU/L (normal values <7.6). The patient was treated with chemotherapy and a significant improvement of clinical and laboratory findings were noted. The diagnosis of lung cancer could be correlated with the clinical existence of dermatomyositis. Increased awareness is needed regarding the association of dermatomyositis with malignancies in order to achieve correct and timely diagnosis of the underling cancer.
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PMID:Dermatomyositis as an early manifestation and a significant clinical precursor of lung cancer: report of a rare case and review of the current literature. 2338 13


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