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At least 1,315 records · Page 73Linked to original sources
PubMed1977

The effect of hydrocortisone on the serum creatine kinase activity of muscles diseases.

Intravenous administration of a single dose of hydrocortisone to patients with the Duchenne type of progressive muscular dystrophy, carriers of Duchenne dystrophy gene caused a short-lasting rise of the serum creatine kinase activity. Administration of hydrocortisone also raised the serum CPK activity in some carriers with a primarly normal CPK level. This phenomenon was observed, though to a lower degree, in limb-girdle muscular dystrophy. The serum CPK activity was sometimes increased after hydrocortisone administration in patients with polymyositis and Kugelberg-Welander spinal muscular atrophy. This phenomenon was never observed in the control group or in cases of myotonic dystrophy. The mechanism of this effect of hydrocortisone on the CPK level is still unknown.

Adult↗
PubMed1976

The symptomatology, morphology and biochemistry of glycogenosis type II (Pompe) in the adult.

The mild, generalized myopathy (glycogenosis type II) of a 23-year-old male, previously thought to have progressive muscular dystrophy, was studied clinically, electro-myographically, biochemically and with light- and electron microscopes. However, the history and clinical aspects, as well as the registration of high frequency discharges in the electromyogram first made the diagnosis uncertain. This kind of spontaneous activity has been found in nearly all cases reported in the literature. Light microscopic and histochemical examinations show vacular degeneration and glycogen storage in muscle fibres. With the electron microscope we found free dispersed glycogen in the cytoplasm and membrane-bound glycogen, glycogen-filled lysosomes. Biochemical measurements of the muscle enzymes, involved in the glycogen breakdown, were normal except for acid alpha-1,4-glucosidase, which was deficient. The evidence of these findings in this abortive form of glycogenosis type II is discussed and compared with the few cases found in the literature.

Adult↗
PubMed1979

The sensitivity of scintigraphic myocardial imaging by the use of 99mTc-labelled pyrophosphate in the diagnosis of cardiomyopathy of various etiology.

A total of 10 patients were examined. In five children who suffered from secondary cardiomyopathy accompanying progressive muscular dystrophy scintigraphic examination of the myocardium was made using 99mTc-labelled pyrophosphate. In two cases the scan was distinctly positive, in three cases negative. Five men with poorly defined primary nonobstructive cardiomyopathy were examined too. The scan was positive in three cases and negative in two cases. The positivity of the pyrophosphate scan of the heart is therefore not pathonomonic of ischaemic damage. An increased accumulation of pyrophosphate in the myocardium in cardiomyopathy indicates an acute phase of the disease.

Adolescent↗
PubMed1983

Pathophysiology of muscle fiber necrosis induced by bupivacaine hydrochloride (Marcaine).

A single direct injection of a local anesthetic, 0.5% bupivacaine hydrochloride (BPVC) (Marcaine), into rat soleus and extensor digitorum longus (EDL) muscles produced massive fiber necrosis with extensive phagocytosis followed by rapid regeneration, predominantly in the soleus. Since the sarcoplasmic reticulum (SR) was functionally disturbed by BPVC administration as confirmed by an in vitro study, the sarcolemmal lysis seen in the early phase of degeneration was not assumed to simply result from direct damage to the plasma membrane caused by BPVC. The extracellular fluid containing a high concentration of calcium (Ca) ions then permeated into the sarcoplasm through the defective membrane resulting in hyper-contracted myofibrils. Selective damage to the Z-line, an early sign of muscle degeneration, was shown by electron microscopy and SDS gel electrophoresis (preferential loss of alpha-actinin). Administration of leupeptin, a thiol protease inhibitor, proved to be ineffective in inhibiting the necrotic process, because the BPVC induced muscle fiber breakdown was probably too acute and fulminant to demonstrate the inhibitory effect upon the degenerative process. Well preserved satellite cells, peripheral nerves, and acetylcholinesterase activity, and the absence of fibrous tissue proliferation in this system may be responsible for the extremely rapid regeneration with complete muscle fiber type differentiation. Since the sequence of fiber breakdown induced by BPVC administration was similar to that of progressive muscular dystrophy, this chemical will be one of the most useful tools for studying the pathophysiology of fiber necrosis and regeneration in diseased muscle.

Animals↗
PubMed1979

The pattern of urinary catecholamines and their metabolites in Duchenne myopathy, in relation to disease evolution.

In this report we have tried to determine whether or not catecholamines are involved in the progressive muscular dystrophy. Catecholamines and their metabolites were studied in urines of children with Duchenne disease or other forms of myopathy (limb-girdle and facio-scapulo humeral myopathies). Catecholamine deaminated metabolites were normal in either form of myopathy; in contrast, Duchenne patients, contrarily to other children, eliminated excessive amounts of most amines (catecholamines and methoxylated amines) in relation to age and degree of disease evolution. Our results indicate that catecholamines are not the primary factors involved in the pathogenesis of Duchenne myopathy, but are rather secondary to some disease effects. It is suggested that the high excretion of catecholamines and their methoxylated amine metabolites observed in severely affected Duchenne boys might be related to thermoregulatory process or/and to alterations in some enzymatic systems.

Adolescent↗
PubMed1983

[Unusual peracute cardiac death cases].

The causes for peracute cardiac death often stem from dysfunction of action-monitoring within the conduction system. By different basic diseases of the heart-partially ischemic circulatory, partially biochemical-biophysical, rarely musculary disorders dominate. This is demonstrated at four cases of death accompanied by rare findings: (1) Localised stenosing coronary arteriosclerosis and -thrombosis at a 32-year-old woman; (2) anatomically corrected transposition of the large vessels; (3) generalized progressive muscular dystrophy (Morbus Duchenne); (4) chronical shrinkage of both kidneys and overdosed electrolyte supply.

Adolescent↗
PubMed2005

Beta-sarcoglycanopathy.

Sarcoglycanopathies are relatively rare progressive muscular dystrophies with autosomal recessive inheritance; which belong to the group of limb girdle muscular dystrophies. The phenotype resembles dystrophinopathies due to proximal muscle weakness and calf hypertrophy. Reports from the Indian subcontinent are scarce. The authors report a case of primary beta-sarcoglycanopathy and describe literature pertaining to this rare entity.

Child, Preschool↗
PubMed1984

Distribution of immunoreactive carbonic anhydrase III in various human tissues determined by a sensitive enzyme immunoassay method.

A sensitive sandwich enzyme immunoassay method for measurement of carbonic anhydrase III (CA-III) was established by use of purified antibodies to CA-III. The assay system consisted of polystyrene balls with immobilized antibody F(ab')2 fragments and the same antibody Fab' fragments labeled with beta-D-galactosidase from E. coli. The assay was highly sensitive and pg levels of CA-III were measureable. Coefficients of variation in within-run and between-run precision studies for serum CA-III were less than 10%. Serum CA-III levels in healthy subjects of various ages ranged from 0.8 to 24 ng/ml. Concentrations of immunoreactive CA-III in the extracts of various human tissues were also determined. Tissues composed of striated muscle contained more than 10 micrograms/mg protein of CA-III, whereas other tissues, including heart muscle, contained less than 0.5 microgram/mg protein. These results were consistent with other data showing that serum CA-III levels were raised in patients with progressive muscular dystrophy but not in those with acute myocardial infarction.

Adolescent↗
PubMed1984

Normal and myopathic propagation of surface motor unit action potentials.

With the aid of a computer-assisted multichannel EMG system, the propagation of motor unit action potentials is analysed during isometric voluntary muscular contraction under normal and myopathic conditions. A linear array of 30 surface electrodes is fixed above the biceps brachii muscle, parallel to the longitudinal muscle axis and centered over the end-plate zone. The EMG is simultaneously recorded on all channels and displays the propagation of surface potentials on both sides of the innervation band. The mean muscle fibre conduction velocity is computed by a cross-correlation technique. Five adult patients in a late stage of progressive muscular dystrophy show a highly altered propagation behaviour of motor unit action potentials without a time shift between potentials of adjacent electrodes. A mathematical model is described which predicts such a behaviour and suggests that it must be due to a pathological longitudinal spread of end-plates in this patient group. In 5 boys with Duchenne muscular dystrophy and only moderate impairment of the biceps muscle the mean muscle fibre velocity was reduced (2.81 +/- 0.34 m/sec) compared to 17 healthy subjects (4.42 +/- 0.37 m/sec). Each myopathic patient examined could be separated clearly from the group of healthy subjects on the basis of the surface EMG analysis.

Adolescent↗
PubMed1984

Conduction study in human muscle fibers in situ--a useful technique for diagnosing myopathies.

Direct muscle conduction studies were carried out using monopolar needle electrodes in the distal portion of the brachial biceps muscles in 13 normal and 10 myopathic subjects. Two monopolar Teflon-coated needles with exposed tips were placed as stimulation electrodes in the distal end of the biceps muscle. A pick-up monopolar electrode was then placed 4 cm proximal to the stimulation electrodes along the same muscle with a surface reference electrode in the vicinity of the active electrode. After the maximal evoked response was detected, the shape, amplitude and duration were recorded. The results revealed that the muscle conduction velocity was slower in polymyositis patients compared with normal subjects but was not significantly different in patients with progressive muscular dystrophy. However, the shape, amplitude and duration of the muscle-evoked potential were characteristic in the myopathies. It is concluded that this muscle conduction study technique is simple and of clinical use in making electrodiagnosis.

Action Potentials↗
PubMed1989

Intracellular calcium in canine muscle biopsies.

Intracellular staining for calcium was studied in muscle biopsies from 15 dogs by the alizarin red S (ARS) stain. Rare positive fibres were present in normal muscle and in denervation atrophy. The percentage of positive fibres was slightly increased in polymyositis, dermatomyositis and canine temporal/masseter myositis and markedly increased in progressive muscular dystrophy. Calcium-positive fibres were usually so-called large-dark (hypercontracted) fibres or necrotic fibres, although there was occasional staining of normal and atrophied fibres. These results indicate the probable involvement of calcium in muscle injury in canine inflammatory myopathies and in canine muscular dystrophy. In addition, use of the ARS stain appears to be useful for detecting the earliest lesions of acute muscle fibre injury.

Age Factors↗
PubMed1979

Roentgenmorphological aspects of muscular pseudohypertrophy.

Using special soft tissue X-ray investigations the authors have found that the increase in volume of the calf musculature in progressive muscular dystrophy does not seem to be in complete accordance with the criteria of pseudohypertrophy. It has been demonstrated that this structural alteration of the musculature does not damage the various muscles to an equal extent. It has been shown that in two cases of motoneurone lesions the total decay of the calf musculature was not followed by loss of muscle bulk. The volume of the damaged musculature remained unchanged, or increased, in consequence of the enormous increase in the fat and connective tissue. This structural alteration corresponds to the generally accepted definition of pseudohypertrophy.

Adult↗
PubMed1984

Behavior of sarcotubular system formation in experimentally induced regeneration of muscle fibers.

To examine the behavior of transverse (T)-tubule formation in experimentally-induced regenerating fibers, a local anesthetic, bupivacaine hydrochloride, was injected directly into the rat soleus muscle to cause myonecrosis. The regenerating fibers following necrosis were then examined by electron microscopy using lanthanum nitrate which clearly demonstrated the sarcotubular system. In the early stage of regeneration within 7 days after muscle necrosis, the T-tubules seemed to be composed of markedly proliferated subsarcolemmal caveolae with occasional honeycomb structure formation. Around 10 days, the T-tubules in regenerating fibers were tortuously and irregularly arranged with focal dilatation in diameter, and extended longitudinally along the axis of well organized myofibrils. As the regenerating fibers matured, the sarcotubular system, irregular in course and in shape, gradually became organized into a regular transverse position against the myofibrils, along with a marked decrease in longitudinally arranged tubular components. These morphological findings of the early T-tubule formation seen in the present study were similar to those found in early myogenesis, and in biopsied muscles from cases of polymyositis and progressive muscular dystrophy.

Animals↗
PubMed1992

A transposon-like element in the deletion-prone region of the dystrophin gene.

The central portion of the dystrophin gene locus is a preferential site for deletions causing progressive muscular dystrophy of the Duchenne type (DMD). The nucleotide sequence of a deletion junction fragment from a DMD patient was determined, revealing that the proximal breakpoint of the deletion in intron 43 fell within the sequence of a transposon-like element. This segment, belonging to the THE-1 family of human transposable elements, is normally present in a complete form in intron 43 of the dystrophin gene. The deletion mutation was maternally transmitted and eliminated two-thirds of the THE-1 element. Analysis of DNA from additional DMD patients revealed a second deletion with the proximal breakpoint mapping within the same THE-1 element.

Base Sequence↗
PubMed2005

Neuromuscular rehabilitation and electrodiagnosis. 4. Pediatric issues.

UNLABELLED: This self-directed learning module highlights the physician's role in the diagnosis and treatment of neuromuscular disorders in pediatric populations. It is part of the chapter on neuromuscular rehabilitation and electrodiagnosis in the Self-Directed Physiatric Education Program for practitioners and trainees in physical medicine and rehabilitation. This article discusses both clinical and electrodiagnostic features of common neuromuscular disorders in pediatric populations. The diagnostic value of somatosensory evoked potential is reviewed in a case of traumatic spinal cord injury without radiographic abnormality. Therapeutic interventions of progressive muscular dystrophy are discussed, as well as the differential diagnosis of floppy infant syndrome, the most common pediatric electrodiagnostic referral. OVERALL ARTICLE OBJECTIVES: (a) To become familiar with electrodiagnosis and rehabilitation for common neuromuscular disorders in the pediatric population, (b) to undrstand electrodiagnostic findings of Guillain-Barre syndrome corresponding to pathophysiology, (c) to become familiar with somatosensory evoked potentials, and (d) to be able to make differential diagnosis of floppy infant syndrome based on clinical findings as well as electrodiagnosis.

Botulism↗
PubMed2006

Heterozygous mutations affecting the epimerase domain of the GNE gene causing distal myopathy with rimmed vacuoles in a Taiwanese family.

OBJECTIVES: Studies of distal myopathy with rimmed vacuoles (DMRV) revealed that most patients had mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene. However, the correlation between GNE mutations and clinical features was not fully understood. PURPOSES: To report the correlation between the clinical features and genetic analysis of DMRV patients. PATIENTS AND METHODS: The clinical presentations, histopathological findings, image studies, and genetic analyses of two patients with DMRV from a Taiwanese family were studied. RESULTS: Two compound heterozygous mutations, Ile 241 Ser and Arg 246 Gln, located in the epimerase domain, were identified in both patients, who were of the same generation. In addition, the elder sister showed a progressive muscular dystrophy course with severe quadriceps and trunk muscle involvement. CONCLUSION: The compound heterozygous mutations in the epimerase domain of the GNE gene are important in the severe phenotype of DMRV. However, the mechanisms leading to this phenotypic heterogeneity still remain to be elucidated.

Adult↗
PubMed2005

Emerin expression in early development of Xenopus laevis.

Emerin is an integral protein of the inner nuclear membrane in the majority of differentiated vertebrate cells. In humans, deficiency of emerin causes a progressive muscular dystrophy of the Emery-Dreifuss type. The physiological role of emerin is poorly understood. By screening and sequencing of EST clones we have identified two emerin homologues in Xenopus laevis, Xemerin1 and Xemerin2. Xemerins share with mammalian emerins the N-terminal LEM domain and a single transmembrane domain at the C-terminus. As shown by immunoblot analysis with Xemerin-specific antibodies, both proteins have an apparent molecular mass of 24 kDa but differ in their isoelectric points. Xemerin1 and Xemerin2 proteins are not detectable in oocytes nor during early embryogenesis. Protein expression is first found at stage 43 and persists in somatic cells. However, RT-PCR and Northern blot analysis show Xemerin mRNAs of approximately 4.0 kb to be present in oocytes and throughout embryogenesis. During embryogenesis the level of Xemerin mRNAs increases at stage 22 and is particularly abundant in mesodermal and neuro-ectodermal regions of the embryo. These data provide the necessary background to further investigate the role of emerin in nuclear envelope assembly, gene expression and organ development of X. laevis as a model organism.

Amino Acid Sequence↗
PubMed2005

Unusual phenomenology of autoerotic fatalities.

Between 1983 and 2003 forty accidental autoerotic deaths (all males, 13-79 years old) have been investigated at the Institute of Legal Medicine in Hamburg. Three cases with a rather unusual scenery are described in detail: (1) a 28-year-old fireworker was found hanging under a bridge in a peculiar bound belt system. The autopsy and the reconstruction revealed signs of asphyxiation, feminine underwear, and several layers of plastic clothing. (2) A 16-year-old pupil dressed with feminine plastic and rubber utensils fixed and strangulated himself with an electric wire. (3) A 28-year-old handicapped man suffered from progressive muscular dystrophy and was nearly unable to move. His bizarre sexual fantasies were exaggerating: he induced a nurse to draw plastic bags over his body, close his mouth with plastic strips, and put him in a rubbish container where he died from suffocation.

Adolescent↗