Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The distribution of major erythrocyte phospholipids and fatty aldehydes and the total fatty acid composition of erythrocytes and plasma were compared from patients with Duchenne's muscular dystrophy, from definite carriers of the disease, from patients with myotonic atrophy, and from a number of normal controls. The data for normal controls closely agreed with the accepted values for these lipid components. Contrary to the published reports of others, no abnormalities in lipids were found in either disease or carrier groups.
 ...
PMID:Lipid composition of erythrocytes. Findings in Duchenne's muscular dystrophy and myotonic atrophy. 45 32

The amounts of 3-methylhistidine, N epsilon,N epsilon-dimethyllysine, N epsilon, N epsilon, N epsilon-trimethyllysine, NG,NG-dimethylarginine, and NG,N'G-dimethylarginine were determined in the urine specimens of healthy subjects and patients of corresponding ages with Duchenne, limb-girdle, and congenital types of muscular dystrophy, and motor neuron diseases. The amount of excretion of 3-methylhistidine decreased and that of NG,NG-dimethylarginine increased significantly in Duchenne and limb-girdle types of muscular dystrophy, but not in diseases with neurogenic muscular atrophy. The decrease of 3-methylhistidine was observed consistently throughout the course of the Duchenne type of muscular dystrophy. The amounts of the other methylamino acids both in myogenic and neurogenic myopathies were not different from those in healthy subjects.
 ...
PMID:Decrease of 3-methylhistidine and increase of NG,NG-dimethylarginine in the urine of patients with muscular dystrophy. 45 17

New Hampshire chickens, homozygous for inherited muscular dystrophy, display clinical manifestations at an early age. A fine structural examination of embryos from this strain shows marked degenerative changes four days prior to hatching. The Z bands appear to dissolve progressively to the point where finally the myofibrils become uniformly dense with no detectable banding patterns.
 ...
PMID:Early detection of inherited muscular dystrophy in chickens. 45 99

An attempt was made to investigate the incidence and significance of high frequency notches and slurs on the QRS complex in patients with progressive muscular dystrophy of the Duchenne type (PMD). The patients were classified into eight stages from the most mild, S(1), to the most severe, S(8), according to Swinyard-Deaver's criteria. Cases where the sum of high frequency notches in the combined leads exceeded none were generally limited to those more advanced than stage S(4). Also, the sum of the notch count tended to be higher in S(5) to S(6) than in the remaining groups and to be lower in the milder cases, S(1) to S(4), and most severe cases, S(7) and S(8). It should be emphasized that cases in groups S(7) and S(8) who had a history of congestive heart failure and/or developed congestive heart failure during the observation period, tended to show a smaller number of notches. High frequency slurs showed almost the same tendencies as the high frequency notches. It is thus anticipated that a significant increase or decrease in the number of notches and slurs on the QRS complex may be suggestive of more intense myocardial derangement.
 ...
PMID:Orthogonal electrocardiographic study on progressive muscular dystrophy of the Duchenne type. 45 86

The stability of washed erythrocytes from patients with muscular dystrophy was determined in hypotonic phosphate buffered sodium chloride. Control cells were more stable than cells from Duchenne and myotonic patients. After pretreatment of the cells with phospholipase from pancreas, snake venom or bee venom in the presence of 14 mmol/l Ca2+, the order of osmotic stability in the 3 groups was not changed. In isotonic phosphate buffered NaCl, however, the erythrocytes of the myotonic patients were much more stable than the cells of the Duchenne and the control group. The lytic process was further studied in control cells with pancreatic phospholipase. 21 +/- 3 (S.E.M.) % of the cells were lysed. This process was (partly) prevented by omitting the phospholipase, by replacement of Na+ by K+ or Li+, by lowering the Ca2+ concentration, by omitting phosphate, by ouabain, by glucose, by ribose, by sucrose, by tetrodotoxin, a Na+-transport inhibitor. Blocking of the Ca2+ transport by La3+ or mersalyl, greatly stimulated the lytic process.
 ...
PMID:Osmotic stability of erythrocytes in human muscular dystrophy before and after phospholipase treatment. 46 13

Myofibrillar protein catabolism has been calculated in a variety of neuromuscular diseases from the amount of 3-methylhistidine excreted in the urine. It was found to be significantly raised in Duchenne type muscular dystrophy, motor neurone disease, polymyositis, and thyrotoxic myopathy. In Becker type muscular dystrophy the level was slightly raised. It was normal in scapuloperoneal and limb girdle dystrophy, dystrophia myotonica, extrapyramidal disease, and multiple sclerosis. It was significantly decreased in hypothyroid myopathy.
 ...
PMID:3-Methylhistidine excretion as an index of myofibrillar protein catabolism in neuromuscular disease. 46 61

Serum creatine kinase levels were determined in 75 girls (age range, one month to 15 years) and 200 normal adult women (age range, 18 to 50 years). The values ranged from 12.5 to 80 IU/1 in girls and 19 to 155 IU/1 in adult females. The SCK level appeared to increase with age from 1 to 15 years, after which the level remained fairly constant. These data should be helpful in the detection of carriers of X-linked forms of muscular dystrophy.
 ...
PMID:Serum creatine kinase levels in normal females. 46 86

Hexokinase activity was found to be increased in both the more severely affected red (thigh) muscle of dystrophic chickens. The increase in activity was largely associated with the particulate fraction. These findings may indicate early events in the pathogenesis of avian muscular dystrophy.
 ...
PMID:The increase in hexokinase activity in hereditary avian muscular dystrophy. 47 61

We report four cases of congenital muscular dystrophy; all demonstrated hypotonia and multiple contractures at birth. Strength remained stationary or improved, but the tendency for contracture formation persisted. Brief small amplitude polyphasic potentials were recorded on electromyography, and muscle biopsy revealed extensive fat and/or collagen replacement, which was out of proportion to fiber necrosis or patient strength. The consistent clinical and pathologic features of these patients and others described in the literature justify considering this disorder to be a specific nosologic entity.
 ...
PMID:Congenital muscular dystrophy: case reports and reappraisal. 49 11

To evaluate the progression of conduction system disease in myotonic muscular dystrophy, nine patients underwent serial electrophysiologic studies at a mean of 35 months apart. At the initial study, seven patients had first-degree atrioventricular block and three of these seven had disease in the His-Purkinje system (HV greater than 55 msec). At the second study, seven patients had prolonged HV intervals, and during the almost 3-year period, HV intervals increased by at least 5 msec in all seven patients. No electrophysiologic or electrocardiographic measures could be found that correlated with progression of conduction disease in these patients. Because of the failure of electrophysiologic measures to predict progression of conduction disease in these patients, electrophysiologic studies are recommended only for symptomatic patients. If significant disease is found in either impulse formation or conduction, permanent pacemaker therapy is warranted.
 ...
PMID:The natural history of conduction system disease in myotonic muscular dystrophy as determined by serial electrophysiologic studies. 49 62


<< Previous 1 2 3 4 5 6 7 8 9 10