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)

Because serum immunoglobulin G levels are low in patients with myotonic dystrophy, it was hypothesized that it might be catabolized within abnormal muscle fibers. Accordingly, immunohistochemical stains for immunoglobulins were performed on muscle sections derived at biopsy or autopsy from patients with myotonic dystrophy, other forms of muscular dystrophy, nondystrophic muscle disease, or normal muscle. Positive staining for immunoglobulins was found only in necrotic segments of myofibers (in 7 of 19 dystrophic and 6 of 27 nondystrophic subjects), and it is believed that the staining was due to nonspecific diffusion. However, staining reactions distinguished between incipient necrosis and artifactual contraction bands and allowed us to study segmental myofiber necrosis, comparing its frequency in the various muscle diseases. Segmental myofiber necrosis was present in 4 of 16 cases of myotonic dystrophy. The relevance of this finding to the clinical and morphologic features of myotonic dystrophy is discussed.
Am J Pathol 1983 Sep
PMID:Segmental myofiber necrosis in myotonic dystrophy - An immunoperoxidase study of immunoglobulins in skeletal muscle. 635 29

The activities of four lysosomal and two nonlysosomal hydrolases were studied in skeletal muscle biopsy samples from patients with neuromuscular diseases and from controls. beta-Glucosaminidase activity was increased in polymyositis. beta-Glucuronidase and alkaline protease activities were elevated in muscular dystrophy in adults, whereas cathepsin D activity was increased in amyotrophic lateral sclerosis. There were significant correlations between the activities of lysosomal and nonlysosomal hydrolases. The activity of beta-glucuronidase, beta-glucosaminidase, alkaline protease, and dipeptidyl aminopeptidase IV showed a positive correlation with the severity of muscular atrophy. The activities of these hydrolases and the activity of dipeptidyl aminopeptidase I correlated positively with the activities of muscular galactosylhydroxylysyl glucosyltransferase and with the serum concentration of type III procollagen aminoterminal propeptide. The results suggest that in neuromuscular diseases the lysosomal and nonlysosomal pathways for muscle degradation are affected concomitantly with collagen biosynthesis.
Arch Neurol 1983 Sep
PMID:Lysosomal and nonlysosomal hydrolases of skeletal muscle in neuromuscular diseases. 635 16

Skeletal muscle cells of genetically dystrophic mice (dy/dy) of the REJ-129 Bar Harbor strain exhibit reduced cytoplasmic levels of the enzyme creatine phosphokinase (CPK) when compared with normal (+/+) mice following SDS-gel electrophoresis of sarcoplasmic proteins. This observation has been thought to reflect "leakage" of CPK from dystrophic muscle cells through lesions in the sarcolemma. The present study has employed the freeze-fracture method to examine vast expanses of sarcolemma fracture face for determination of whether lesions do exist in the membrane or an alternate route is present for extravasation of CPK from dystrophic muscle cells. Most of the dystrophic cells examined in this study appeared intact and were therefore presumed viable. The intramembrane lipoprotein particles characteristic of PF-fracture face membrane were reduced in dystrophic as compared with normal murine skeletal muscle, and the plasmalemma possessed a greatly amplified population of caveolae as compared with nondiseased sarcolemma. No abnormal structural feature of these dystrophic muscle plasma membranes could be interpreted as a perforating focal "delta" lesion, such as the structures seen in thin plastic sections by other investigators. However, a second group of cells, generally few in number, that exhibited features indicative of necrosis (and loss of viability), were seen in both thin sections and platinum replicas. These moribund cells were usually embedded in dense sheaves of connective tissue along with other dystrophic cells that lacked signs of necrosis. The cytoplasm of the necrotic muscle cells was disorganized, as was the contractile machinery. The sarcolemma showed numerous perforations, through which CPK could escape into the tissue extracellular compartment. We conclude on the basis of our observations that the "focal lesions" reported by other investigators are not a structural feature of viable dystrophic muscle cell plasma membranes and are found only in necrotic or dying cells, and that the elevated serum levels of CPK associated with muscular dystrophy may result either from escape of the enzyme through lesions present in necrotic or dying cells or by extravasation along avenues provided by the hyperplastic mass of membrane caveolae present in dystrophic sarcolemma.
Am J Pathol 1984 Sep
PMID:The dystrophic murine skeletal muscle cell plasma membrane is structurally intact but "leaky" to creatine phosphokinase. A freeze-fracture analysis. 647 81

Systematic psychometric evaluations were performed in 16 patients with myotonic muscular dystrophy (MMD). All patients received the Wechsler Adult Intelligence Scale-Revised and Wechsler Memory Scale-1. In addition, 13 patients received the Reitan-Halstead Neuropsychological Test Battery (R-H), including the Aphasia Screening Test. Despite the high reported incidence of mental retardation in MMD, none of our pilot population showed mental retardation. However, 5 of the 13 patients showed evidence of possible organic mental dysfunction on the R-H. Problems in previous studies which could explain these discrepancies include the following: (1) small sample size, (2) studies limited to young children, and (3) a complete lack of systematic psychometric data in the previous reports. Systematic cooperative studies are suggested to elucidate the degree and type of cognitive involvement in MMD.
Arch Phys Med Rehabil 1984 Sep
PMID:Psychometric evaluation in myotonic muscular dystrophy. 647 87

There is given a simple apparatus for monitoring of CK-activities by means of a bioluminescent test. This test makes it possible to determine CK-activities in 1 microliter serum samples as well as in dried blood spots. A good correlation between the bioluminescent test and a standard method was found. The sensitivity of the method is very high and suitable for a screening of affected boys with Duchenne's muscular dystrophy.
Psychiatr Neurol Med Psychol (Leipz) 1984 Sep
PMID:[Determination of creatine kinase activity using bioluminescence]. 651 67

The intramembrane particle (IMP) profile of control and dystrophic (Bio 14.6) hamster cardiac muscle plasma membrane was assessed in freeze-fracture replicas to determine whether this animal model of muscular dystrophy exhibits the same membrane characteristics found in skeletal muscle from other more thoroughly studied dystrophic animals, and to test the hypothesis that the plasma membrane of the cardiac muscle cell is the site of a defect associated with the disease. Samples of cardiac muscle tissue from hamsters ranging in age from 1 to 13 months were freeze-fractured. Intramembrane particle numbers were determined for all tissue samples by counting randomly selected areas of P- and E-face surfaces. Up to the age of 1 month, the particle density was the same in both strains of hamster, after which time, the population of IMPs was about 30% lower in dystrophic than in normal heart sarcolemma. This 30% difference in particle frequency in dystrophic hamster heart membrane is consistent with values published for cell membrane from other muscular dystrophies and supports the theory that there is a defect in the plasma membrane of dystrophic cells. In addition, this study has shown for the first time that a presumed membrane defect related to muscular dystrophy (reduced number of IMPs) may be present throughout the life of the animal (1-13 months), and expressed in every cell sampled.
Muscle Nerve 1984 Sep
PMID:A freeze-fracture analysis of intramembrane particle densities on dystrophic hamster heart sarcolemma. 654 70

Statistical methods are presented for estimating and comparing survival curves obtained from experiments in which cells are exposed in vitro to increasing doses of a DNA-damaging agent. These methods, which are applicable in a variety of cell survival assays, are illustrated in the evaluation of two sets of experiments in which the colony-forming ability of fibroblast cell lines from 9 muscular dystrophy patients and 17 normal individuals were studied after exposure to N-methyl-N'-nitro-N-nitrosoguanidine (MNNG).
Mutat Res 1983 Sep
PMID:Statistical methods for in vitro cell survival assays. 662 76

The authors reported a large study of 93 children presenting a severe form of progressive muscular dystrophy. The first clinical symptoms were noticed between 3 to 12 years. The atrophy affects, predominantly, the girdle and truncal muscles. The hypertrophy of the calves is almost consistent. The progression of the disease is severe, often like that the Duchenne type. In most of the cases, inability to walk occurs between 10 and 20 years. The serum creatine kinase activity is markedly high in the first stages of the disease. There is a necrotic regenerative pattern at muscle biopsy, associated with a marked type 1 predominance. The disease appears to be inherited as an autosomal recessive trait, with equal distribution among the two sexes. There is a marked variability in the intensity of symptoms and in the severity of the course of the disease from one sibling to another, and from one family to another. This disease is frequent in Tunisia and seems to be related to the high degree of consanguinity in this country.
Muscle Nerve 1983 Sep
PMID:Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia. 663 60

To test the hypothesis that the genetic lesion causing muscular dystrophy might be reflected in an abnormal intracellular elemental content, the elemental content of individual cardiac and skeletal muscle fibers in 50-day-old male control and cardiomyopathic BIO 53.58 hamsters was determined. The technique of electron probe x-ray microanalysis of freeze-dried tissue was employed. No electrolyte content differences were found between control and diseased animals for nuclei, myofibrillar cytoplasm, or mitochondrially-enriched cytoplasm of cardiac myocytes. Sulfur was elevated in dystrophic cardiac myocytes and was the only element significantly different in heart tissue of control and cardiomyopathic animals. Sulfur was also elevated in dystrophic soleus muscle fibers. The pattern of electrolyte content of these cells reflected a mixture of normal cells and damaged cells with altered electrolyte content. In this hamster model, alteration of electrolyte content of myocytes appears to be a result of the disease process and not an inherent characteristic of muscular dystrophy. The elevated sulfur in dystrophic hamster myocytes reflects a biochemical lesion which deserves further study.
Muscle Nerve 1983 Sep
PMID:Intracellular elemental content of cardiac and skeletal muscle of normal and dystrophic hamsters. 663 61

A preliminary study of nuclear magnetic resonance imaging of the brains of four normal children (36 weeks' postmenstrual age to 5 years) showed long T(1) areas in the periventricular region of the neonate as well as evidence of progressive myelinisation with increasing age. Study of 18 patients of 40 weeks' postmenstrual age to 4 years showed an apparent deficit in myelinisation in an infant with probable rubella embryopathy and another with ventricular dilatation of unknown cause. Abnormal scans were obtained in an infant with congenital muscular dystrophy, and abnormalities were visualised at the lateral ventricular margins in a case of acute hydrocephalus after shunt blockage. Periventricular regions of increased T(2) were seen in a term infant aged 4 days after severe birth asphyxia and convulsions.Nuclear magnetic resonance imaging appears to provide a unique demonstration of myelinisation in vivo and shows changes in pathological processes of importance in paediatric practice.
Br Med J (Clin Res Ed) 1982 Sep 18
PMID:Nuclear magnetic resonance imaging of the brain in children. 681 Sep 94


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