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

A skeletal muscle membrane fraction enriched in sarcoplasmic reticulum (SR) contained Ca2+-ATPase activity which was stimulated in vitro in normal chickens (line 412) by 6 nM purified bovine calmodulin (33% increase over control, P less than 0.001). In contrast, striated muscle from chickens (line 413) affected with an inherited form of muscular dystrophy, but otherwise genetically similar to line 412, contained SR-enriched Ca2+-ATPase activity which was resistant to stimulation in vitro by calmodulin. Basal levels of Ca2+-ATPase activity (no added calmodulin) were comparable in muscles of unaffected and affected animals, and the Ca2+ optima of the enzymes in normal and dystrophic muscle were identical. Purified SR vesicles, obtained by calcium phosphate loading and sucrose density gradient centrifugation, showed the same resistance of dystrophic Ca2+-ATPase to exogenous calmodulin as the SR-enriched muscle membrane fraction. Dystrophic muscle had increased Ca2+ content compared to that of normal animals (P less than 0.04) and has been previously shown to contain increased levels of immuno- and bioactive calmodulin and of calmodulin mRNA. The calmodulin resistance of the Ca2+-ATPase in dystrophic muscle reflects a defect in regulation of cell Ca2+ metabolism associated with elevated cellular Ca2+ and calmodulin concentrations.
Biochemistry 1988 Sep 20
PMID:Abnormal response to calmodulin in vitro of dystrophic chicken muscle membrane Ca2+-ATPase activity. 297 24

Ultrasonography of the thigh and calf was performed in 24 children who had primary neuromuscular disease and in 20 healthy children. The ultrasound image was clearly abnormal in all patients with progressive muscular dystrophy, and in the majority of children with benign myopathic disorders; the principal changes were increased muscular echogenicity and increased attenuation of ultrasound with a reduced bone surface echo. In 13 patients, the ultrasound findings were correlated with pathologic changes seen in muscle biopsy specimens: a clear correlation (r = .85) was found. Muscular dystrophies had a higher score of abnormal ultrasonographic and microscopic findings, while the more benign muscular diseases had a lower score.
J Ultrasound Med 1988 Sep
PMID:High-frequency ultrasonography of skeletal muscle in children with neuromuscular disease. 305 44

Retinal dysplasia and agyria without cortical lamination are the constant findings in this autosomal recessive syndrome. There may also be anterior chamber malformations, cataract, and microphthalmos. Brain autopsies have shown a variety of associated malformations such as posterior encephalocele, Arnold-Chiari malformation, agenesis of the septum pellucidum and of the corpus callosum, agenesis of the vermis and hypoplasia of the cerebellum. Muscular dystrophy is probably present in most of these patients. Within the last few years, over 20 cases with a complete autopsy have been described. The syndrome should be differentiated from other syndromes with retinal non-attachment and retinal dysplasia, and from syndromes with hydrocephalus or encephalocele without these ocular features.
Eur J Pediatr 1987 Sep
PMID:Ocular malformations and lissencephaly. 311 42

The dimensions of myonuclei and satellite cell nuclei in Duchenne's muscular dystrophy (DMD), polymyositis, and normal controls were compared in order to determine whether differences in satellite cell populations (previously reported by these and other authors) could be attributable to changes in the relative dimensions, thereby biasing the counts. The nuclei were measured directly from semithin resin sections using computerized measuring techniques, thereby avoiding errors due to photographic enlargement. In both the control and polymyositic groups, the satellite cell nuclei (8.30 microns and 8.81 microns respectively) were significantly shorter than the myonuclei (11.75 microns and 13.00 micron). Dystrophic myonuclei (10.98 microns) were significantly shorter than polymyositic myonuclei, but dystrophic satellite cell nuclei (11.62 microns) were significantly longer than both polymyositic and normal control satellite cell nuclei. The mean nuclear area in transverse sections was significantly greater in both myopathies than in the control material for both myonuclei and satellite cell nuclei. Myonuclei were significantly larger than satellite cell nuclei in all groups. When the values for the lengths of the nuclei were used to adjust previous estimates of satellite cell populations, it was found that earlier conclusions were still valid, i.e., that there is a significant increase in the number of satellite cells in the dystrophic muscle fibre population.
Anat Rec 1988 Sep
PMID:A quantitative study of myonuclear and satellite cell nuclear size in Duchenne's muscular dystrophy, polymyositis and normal human skeletal muscle. 318 87

The binding and internalization of insulin receptors were investigated in 8 adult form and 6 early-onset myotonic muscular dystrophy (MMD) patients and in age- and sex-matched controls, using cultured skin fibroblasts to avoid the in vivo milieu of donors. The specific insulin binding in the presence of [125I]insulin alone at pH 7.4 and pH 8.0 in MMD patients was not significantly different from that of the controls. The competition curves of insulin binding and the Scatchard plots in MMD and control fibroblasts were similar. Insulin receptor affinity in MMD patients was not different from that in the controls. In the presence of chloroquine, a lysosomotropic agent, the rate of increase in cell-associated radioactivity was similar in both MMD groups and controls. Thus, the normal binding and internalization of the insulin receptors in cultured skin fibroblasts from MMD patients suggest that the insulin receptors are not determined by the pathological genetic factors in MMD. Furthermore, the abnormal insulin binding to freshly isolated cells, reported previously, may be a reflection of environmental factors rather than a genetically determined cellular abnormality in MMD.
J Neurol Sci 1987 Sep
PMID:Insulin binding and internalization in cultured fibroblasts from myotonic muscular dystrophy. 331 8

Intraruminal selenium soluble-glass boluses were administered by balling gun to 65 of 125 crossbred beef cows (Shorthorn X Charolais) during the last trimester of pregnancy. Elevated (P less than .01) whole blood glutathione peroxidase (GSH-Px) concentrations were observed monthly for the next 10 mo following initiation of treatment, reaching the maximum magnitude (263 vs 41) at the fourth month. Monthly milk samples showed elevated selenium concentrations (P less than .01, April through August; P less than .05 through September). Intraruminal, selenium soluble-glass bolus administration to gestating cows was highly effective in raising the selenium status of their progeny. Although the control calves were in low-selenium status, no acute cases of nutritional muscular dystrophy were observed during this experiment.
J Anim Sci 1987 Sep
PMID:Effect of intraruminally administered, selenium soluble-glass boluses on selenium status in cows and their calves. 366 43

Bilateral sloping high frequency hearing loss of 20-90 dB was found in six out of ten patients with infantile or adolescent onset FSHD. In all cases the basic defect could be traced to the cochlea. The outer hair cells of the basal turn are predominantly affected. In 20 patients with various other forms of muscular dystrophy or neuromuscular disorders with an FSH distribution, no sensorineural hearing loss was found. Myopathology of FSHD patients extended from mild to severe, often showing inflammatory infiltrates and type I fibre atrophy, without unequivocal differences between the two groups with and without hearing loss. It is concluded that cochlear dysfunction is a specific and frequent phenomenon of early onset FSHD.
Eur J Pediatr 1986 Sep
PMID:Hearing loss in facioscapulohumeral dystrophy. 376 95

6-Mercaptopurine (6-MP) was injected daily (2 mg/kg sc) into 24 Sprague-Dawley rats during the first three weeks of life. There were 23 saline-injected control animals. Atrophy of the muscles of the hindquarters in the 6-MP-treated rats began at about 4 months of age. The membrane potentials (Em) of the isolated extensor digitorum longus (EDL) and the caudofemoralis (CF) muscle (in situ) were measured with intracellular microelectrodes at 6-18 months of age. It was found that there was a wide spectrum of fibers with respect to electrical abnormalities in the 6-MP-treated muscles, some fibers having perfectly normal parameters. However, the mean resting Em of fibers in the EDL muscle of 6-MP-treated rats (-61.1 +/- 0.7 mV) was lower than that of the control rats (-69.7 +/- 0.6 mV). The same was true for the fibers of the CF muscle (-64.9 +/- 1.5 mV for 6-MP-treated fibers vs -71.6 +/- 1.3 mV for controls). Experiments done in the presence and absence of ouabain indicated that the contribution of the electrogenic pump potential to Em was similar in 6-MP-treated and control rats, and therefore could not account for the depolarization observed in 6-MP-treated rats. The data also demonstrated that this depolarization was not due to a decreased intracellular K+ concentration. The Na+/K+ permeability ratio (PNa/PK) was higher in the 6-MP-treated rats, and could account for the decreased resting Em. The APs of 6-MP-treated rats (elicited from the natural Em of the fiber) had more fibers with a lower maximum rate of rise (+Vmax) (330 +/- 20 vs 391 +/- 17 V/sec) and lower amplitude (65.1 +/- 2.9 vs 73.3 +/- 1.8 mV) than in the control muscles. When hyperpolarized to -90 mV before eliciting the AP, fibers from 6-MP-treated rats still displayed depressed AP rates of rise (+Vmax of 382 +/- 19 vs 511 +/- 21 V/sec in controls), depressed AP amplitudes (97 +/- 2.1 vs 105 +/- 1.6 mV in controls) and slightly prolonged duration at 50% amplitude (APD50) (0.66 +/- 0.03 vs 0.60 +/- 0.02 sec in controls). These electrophysiological alterations produced by this chemically-induced myopathy are similar to those observed in murine muscular dystrophy.
Toxicol Ind Health 1986 Sep
PMID:6-Mercaptopurine treatment affects the membrane potentials of rat skeletal muscle fibers. 378 53

Autopsy studies have shown that cardiomyopathy of Duchenne's muscular dystrophy (DMD) is characterized by fibrosis of the posterobasal and contiguous lateral wall of the left ventricle. This study was designed to determine whether stress testing would improve the sensitivity of echocardiography to detect secondary impairment of regional myocardial function. 12 patients aged 5 to 23 years with DMD were investigated. TM- and 2D-echocardiograms were performed before and during graded infusion of angiotensin (A) (0.5 to 5.0 mcg/min), and parameters of cardiac function analyzed. Satisfactory echocardiograms were obtained in all patients. Stress testing with A proved feasible in DMD and did not interfere with echocardiography. Before A all patients were in regular sinus rhythm and free of cardiac symptoms. Left ventricular function was normal in 9 patients and considered abnormal in 3 patients with hypokinesis and increased echo intensity of the posterobasal and lateral wall (2D short axis view) and/or a posterior wall to septal amplitude ratio of less than or equal to 1.1 (TM-echocardiogram). During A mean blood pressure rose and heart rate dropped significantly. 9 patients had marked supraventricular arrhythmias, 8 complained of dyspnea, cough or chest pain. Hypo- or akinesis of the posterobasal and sometimes the lateral wall was seen in 8, and a posterior wall to septal amplitude ratio of less than or equal to 1.1 in 9 patients. 3 patients, all with a muscle score of 60% or higher, remained free of symptoms and had no regional contraction abnormalities. Thus, clinical symptoms during A suggested latent congestive heart failure in many of the patients, and echocardiography identified provokable contraction abnormalities of such segments of the ventricular wall known to be most frequently involved in the dystrophic process in DMD. Stress testing revealed a correlation between clinical symptoms, abnormal echocardiographic findings and extent of the skeletal muscle disease in our study group. Physical limitation seems to protect the heart against demands that would otherwise cause earlier clinical manifestation of the cardiomyopathy in DMD.
Z Kardiol 1986 Sep
PMID:[Cardiac manifestation of progressive muscular dystrophy of the Duchenne type]. 378 61

Ultrasound imaging of 20 cases of progressive muscular dystrophy and 10 cases of suspected infantile spinal muscular atrophy in children was performed by us, as a double-blind plot study matched against 25 controls. Open muscle biopsy was restricted to the muscular dystrophy group. The ultrasonographic findings were correlated with parameters such as functional disability of muscle and muscle biopsy features in the dystrophy group. It was interesting to observe that the muscle echogram was abnormal in both types of neuromuscular problems, the controls giving a normal muscle echogram. Ultrasonography was helpful in detection of unequivocal changes in our cases with mild clinical disability. It had a close correlation with changes in gross muscle architecture, as seen on muscle biopsy.
J Clin Ultrasound 1985 Sep
PMID:Real-time ultrasonography in neuromuscular problems in children. 393 77


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