Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound   Target Concepts: 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)

We have demonstrated that maneuvers capable of reducing Ca influx into cells have beneficial effects in dystrophic hamsters and Duchenne muscular dystrophy. Since dantrolene inhibits Ca release from the sarcoplasmic reticulum, its effects on DMD was studied in 7 patients of 6 to 13 years of age (mean 10.8 years). Patients were studied for 4 years with tri-monthly evaluations of manual muscle testing (MMT), functional activity, and serum CK and aldolase. During the first 2-year period, no medicines were given and served as control. In the second 2-year period, dantrolene 8 mg/kg/d was administered. No side effects were observed. In 1 patient, mild weakness occurred that disappeared when the dose was reduced to 6 mg/kg/d. The 95% confidence limit for the difference in slopes of regression lines from tri-monthly MMT was asymmetric in favor of dantrolene in 5 of 7 patients. Serum CK did not differ between the first and second year of the control and treatment periods, respectively. However, it fell significantly from the second year of control to the first year of treatment (P = 0.003). The fall during the first year of treatment was significantly greater (P less than 0.01) than in age-matched natural history controls during the same length of observation. There was a 3-fold reduction in CK when the pooled values of the first and second year control vs. treatment periods were analyzed. No changes were observed in functional activity and serum aldolase. The data suggest that dantrolene reduces serum CK in DMD associated with a lessening trend in MMT deterioration.
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PMID:Effect of dantrolene in Duchenne muscular dystrophy. 185 56

A 25-year-old woman with a 2 years history of painful enlargement of the left calf visited our clinic because of ache in the left calf which became severe enough to interfere her walk. She had no history of trauma to the calf, and family history was negative for muscle disease. Physical examination showed an enlarged left calf muscle with pain which was evoked by stretching of the Achilles tendon. There was no muscle weakness or neurological abnormality. Laboratory tests were all within normal limits, including erythrocyte sedimentation rate and serum enzymes such as creatine kinase and aldolase. The CT scan revealed an isolated round-shaped low density area in the left calf muscle, which showed up as a markedly high signal intensity on T2 weighted images of MRI. The lesion was confirmed to be the lateral head of the gastrocnemius muscle. The specimen obtained from the affected muscle demonstrated degenerative and inflammatory changes together with excess fibrosis. There was no sarcoid lesion or malignancy. From the above results, the present case was thought to have isolated focal myositis. Prednisolone 80 mg (40 mg, twice, at 4-day intervals) was given to the left femoral artery without any trouble. Thereafter the patient became free from pain and difficulty in walking, and the lesion demonstrated by CT scan disappeared in 15 days. However, the high signal intensity on T2 weighted images faintly remained until the 54th day after the treatment. In summary, MRI is more sensitive than CT scan for detection of isolated focal myositis, which might be successfully treated by arterial injection of prednisolone within a short period than any other conventional methods.
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PMID:[A case of isolated focal myositis successfully treated by arterial injection of prednisolone--its findings by CT scan and MRI]. 208 34

A case of mitochondrial encephalomyopathy with a partial cytochrome c oxidase deficiency was reported with special reference to electrophysiological studies. A 56-year-old man was readmitted to Himeji Central Hospital due to mental deterioration and character change. At the age of 44 when he was attacked by his first epileptic seizure, he was admitted to Himeji Central Hospital, where EEG abnormalities and cerebral atrophy were found. Anticonvulsants helped to relieve his generalized convulsions but the EEG abnormalities persisted. At age 46, he had the second generalized seizure, so he quit his job as a crane operator. His family began to notice deterioration of his intellectual function and hyperaggressive behavior. His daily activities, intellectual performance and mental condition gradually deteriorated (WAIS FIQ less than 60). Other clinical and laboratory findings are as follows: bilateral impaired hearing, no optic nerve atrophy, no disturbance of extra ocular muscle movements, mild wasting and weakness of his extremities, normal coordination and sensation, no myoclonus or other involuntary movements, normal laboratory data of serum creatinine kinase, lactate dehydrogenase and aldolase, and increased amount of lactate and pyruvate in serum and cerebrospinal fluid (CSF), no abnormal amino acids in urine. A biopsy specimen of right biceps brachii muscle revealed numerous ragged-red fibers in frozen sections stained by the Gomori trichrome method. These fibers did not react to a cytochrome c oxidase staining. An ATPase staining demonstrated an atrophy of type-2 fibers. An electron micrograph showed many mitochondria in the sarcoplasm but few paracrystalline inclusions. A biochemical analysis of the muscle biopsy also revealed a significant decrease in the cytochrome c oxidase activity.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A mitochondrial encephalomyopathy due to partial cytochrome c oxidase deficiency with giant evoked potentials--a case report]. 217 89

A 25-year-old female patient with an approximate 10-year-history of slowly progressive muscle weakness was diagnosed as a manifesting carrier of Duchenne muscular dystrophy (DMD) because her muscle biopsy showed scattered fibers with no dystrophin on immunohistochemical staining. She had no family history of neuromuscular disorders. She was in good health until about 14 years of age, when she developed muscle weakness and atrophy of the extremities with slow aggravation. On admission at the age of 25 years, she had asymmetrical muscle atrophy in the lower extremities; the left femur, right femur, left crus, and right crus measured 36.0, 40.5, 31.5, and 35.5 cm in circumference, respectively. However, the muscle weakness of the extremities was symmetrical with no laterality, and the proximal muscles in the lower extremities were predominantly affected to 3+/5 MMT test. She walked with a mild wadding manner and stood up with Gower' maneuver. Deep tendon reflexes of the extremities were almost normoactive with no pathologic reflexes. As to laboratory findings, serum enzymes of muscular origin were elevated; GOT was 44 IU/l, GPT 60 IU/l, LDH 829 IU/l, CK 4238 IU/l, and aldolase 31 SL units. The electromyogram showed myopathic changes mixed with some neurogenic components. Peripheral nerve conduction velocity was normal. A computed tomography of the skeletal muscles showed more marked atrophy and lower density in the left lower extremity than in the right. The biopsied left gastrocnemius muscle demonstrated a marked variation in fiber size with some necrotic and regenerating fibers. On immunohistochemical stain with anti-dystrophin antibody, the dystrophin negative fibers were scattered among positive fibers in a mosaic distribution.
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PMID:[A manifesting carrier of Duchenne muscular dystrophy presenting mosaic distribution of dystrophin negative and positive muscle fibers]. 218 62

Nineteen patients with primary hypothyroidism were prospectively studied before starting replacement therapy with thyroid hormones. Most patients had mild to moderate muscle symptoms: generalized muscle weakness, myalgia and cramps, and increased serum levels of muscle enzymes. In two patients these features were the motive for consulting the physician. The patients with muscular features had significantly higher plasma levels of lactic dehydrogenase and aldolase than asymptomatic patients. The major histological muscle findings were atrophy of type II fibers, abnormalities in the oxydative pattern of muscle cells, and glycogen deposition. In the biochemical investigations an increased muscle glycogen with reduced activity of the glycolysis and glucogenolysis enzymes were found. The patients with more marked histological abnormalities had lower levels of thyroid hormones, but the differences did not reach significant values. Five patients in euthyroid status after 12 months of therapy underwent a new biopsy. Although the remaining clinical and laboratory parameters had returned to normal, some of the histological muscle abnormalities persisted. This finding leads to the suspicion that the lack of thyroid hormones may induce irreversible structural damage in skeletal muscle.
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PMID:[Hypothyroid myopathy. A clinical and histologic prospective study of 19 patients]. 225 May 30

The eosinophilia-myalgia syndrome associated with the use of oral preparations of the amino acid L-tryptophan was recognized in late 1989. We describe the clinical and laboratory manifestations, pathological findings and early clinical course of 20 patients with the eosinophilia-myalgia syndrome. Prominent clinical findings included severe myalgias limiting function, fatigue, rashes, edema and weight gain, weight loss, muscle weakness and shortness of breath. Laboratory findings included eosinophilia (often marked), normal erythrocyte sedimentation rate, and elevated aldolase with normal or low creatine kinase values. On biopsy fascial inflammation was always seen consisting of lymphocytes, histiocytes and eosinophils in a perivascular distribution. Invasion of the vascular wall by lymphocytes was seen in 20%. Capillary and arteriolar endothelial cell thickening was found in most cases on electron microscopy and endothelial cell necrosis or mural invasion by lymphocytes was seen in 25% of cases. Two patients improved with no therapy. Ten patients responded to therapy with prednisone alone. Three patients have had progressive disease and one of these died. The relationship of this syndrome to previously described disease entities associated with eosinophilia is discussed.
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PMID:Eosinophilia-myalgia syndrome associated with L-tryptophan use. 227 99

A 73-year-old woman with progressive proximal-dominant muscular atrophy and weakness was described. She had been well until 70-year-old, when she found difficulty in standing up from sitting position. At age 72 years, she could not raise her arms. Neurological examination showed muscular wasting and weakness in the proximal parts of extremities, shoulder and pelvic girdle. In the thigh, the flexors and adductors were severely affected. Muscular weakness was also observed in m. tibialis anterior. Serum CK and aldolase were normal. Electromyography showed low voltage short duration motor unit potentials with positive sharp waves and fibrillations. Rimmed vacuoles were observed in 4.8% of muscle fibers in biopsy sample obtained from right m. quadriceps femoris. No inflammatory cells, PAS-positive materials and inclusion bodies were observed in the sample. This case differs from distal myopathy with rimmed vacuoles, because the onset was very late and her muscular weakness and atrophy was proximal dominant. This case also differs from inclusion body myositis, because muscle biopsy revealed no inflammatory cells or inclusion body.
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PMID:[A case of senile onset rimmed vacuole myopathy with proximally dominant involvement]. 227 64

A case of polymyositis (PM) associated with abnormal creatinine phosphokinase (CPK) isoenzyme pattern and Thallium-201 (Tl-201) myocardial imaging was reported. No such case has ever been reported in Japan. A 44-year-old female was admitted for evaluation of muscular weakness of proximal limbs and polyarthralgia. On laboratory examinations, the serum levels of CPK, aldolase and transaminase were markedly elevated. The electromyograms revealed a typical myogenic pattern. On the pathological findings, the principal changes in muscle tissue consisted of inflammatory cell infiltration. Based on those findings, she was diagnosed as having polymyositis. In our patient, there were three characteristics as following; (1) CPK-MB of CPK isoenzyme showed persistent high levels, (2) macro CPK in Electrophoresis of CPK was observed, (3) Tl-201 myocardial imaging revealed multifocal perfusion defects and localized defect in left ventricular inferior wall. She was started on therapy with prednisolone (30 mg/day). The clinical and laboratory manifestations were improved. Abnormal CPK isoenzyme pattern and myocardial imaging were also improved parallel with disease activity of PM. Thus, this case indicated the relation of the damage of skeletal muscle and cardial involvement in PM to unusual CPK isoenzyme pattern. Then wer reported this case.
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PMID:[A case of polymyositis associated with unusual CPK isoenzyme pattern and myocardial imaging]. 228 67

In thalassemia major (TM) one third of patients suffers from muscle wasting, weakness and cramps. Six patients with TM were studied. All had muscle wasting and proximal weakness; serum levels of vitamin E were low (0.6-7.0 micrograms/dl) while CPK, LDH and aldolase were normal. EMG revealed low-amplitude short-duration polyphasic potentials in 3 patients and normal activity in 3 others. Nerve conduction velocities were normal in 3 patients studied. On muscle biopsies, moderate variation in fiber size with fiber atrophy and preponderance of type 1 fibers were discovered. Our findings confirm the existence of nonspecific myopathic changes in TM. Chronic vitamin E deficiency should be considered in the pathogenesis of the myopathy in TM.
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PMID:Myopathological findings in thalassemia major. 228 8

We report on a series of three patients with an unusual syndrome of eosinophilia and myalgia associated with the oral ingestion of tryptophan that was recognized in New Mexico in October 1989. All three patients, who were women 37 to 44 years of age, had severe muscle pain, muscle weakness, mouth ulcers, and striking eosinophilia (more than 8 X 10(9) cells per liter). Other manifestations included fever, abdominal pain, dyspnea, skin rash, and elevated serum concentrations of aminotransferase and aldolase. The women had been taking tryptophan in doses of 1.2 to 2.4 g a day for three weeks to 2 1/2 years. The discontinuation of tryptophan and the initiation of glucocorticoid treatment resulted in improvement, but all three women were still symptomatic three to five months later. Tests for trichinosis and other parasites and for allergic and connective-tissues disorders were negative, and serum immunoglobulin concentrations and erythrocyte sedimentation rates were normal. A muscle biopsy in one patient and biopsies of the vagina, liver, and other abdominal organs in another revealed eosinophilic infiltration, as well as the extracellular deposition of eosinophil-granule major basic protein. All three patients had elevated serum and urinary levels of this protein and eosinophil-derived neurotoxin, indicative of eosinophil degranulation. The syndrome of eosinophilia and myalgia in association with the ingestion of tryptophan that was seen in these three patients is a newly recognized adverse effect of tryptophan ingestion. Our identification of this association in these patients led to the discovery of an epidemic of what is now called the eosinophilia-myalgia syndrome.
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PMID:Association of the eosinophilia-myalgia syndrome with the ingestion of tryptophan. 231 25


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