bluuebunny/crossref_metadata_2025_split huggingface dataset:
Spinal muscular atrophy: The natural course of disease
Authors: Russman Barry S. , Melchreit Richard Melchreit , Drennan James C. 
Published: January 2005

AbstractThe infantile form of spinal muscular atrophy (Werdnig‐Hoffmann disease) is thought to be progressive and usually fatal by age three. The intermediate and juvenile forms (Kugelberg‐Welander disease) have been reported to be static in many cases. A review of 48 patients, 50% of whom had been followed for more than 10 years, were placed into four groups according to the maximum motor function attained. Progression of muscle weakness was assessed using functional criteria, including inability to walk, inability to use a manual wheelchair and inability to raise the hands above the head. The results of this analysis suggest that all patients with spinal muscular atrophy have a progressive disease and that the course of the deterioration is predictable in each of the four groups. This information allows one to offer realistic counseling and a rational rehabilitation program.
Physical models of rehabilitation in neuromuscular disease
Authors: Vignos Paul J. 
Published: January 2005

AbstractPhysical methods of treatment for neuromuscular diseases constitute the mainstay of current management. The overall goals of management are the maintenance of independent ambulation and the optimal functional state consistent with the disease process. Maintenance of muscle strength requires regular daily physical activity. An active exercise program can give limited increases of strength in muscular dystrophy dependent on the severity of the disease. Active exercise programs do not result in overwork weakness when properly supervised. Endurance exercise training does not appear to be suitable for Duchenne muscular dystrophy but may have value in the less rapidly progressive neuromuscular diseases. Contracture development can be retarded by passive stretching and splinting initiated early in the disease course. Weight control is important both for ambulatory and wheelchair‐bound patients. Reliable assessment of the results of physical therapy programs has been improved by the introduction of newer, more objective methods for measuring muscle strength.
Fatty acid oxidation intermediates and the effect of fasting on oxidation in red and white skeletal muscle
Authors: Carroll James E. , Villadiego Aida , Morse Daniel P. 
Published: January 2005

AbstractIn vitro oxidation of U‐[14C]glucose‐6‐phosphate, 2‐[14C]pyruvate, and 1‐[14C]pyruvate was significantly reduced in red skeletal muscle from fasting rats. Over the same time interval of fasting, 1‐[14C]palmitate oxidation remained unchanged. Pyruvate dehydrogenase activity, assayed before in vitro activation, was also reduced in red muscle. Long chain acylcarnitine and long chain acyl CoA increased over the same time period in red muscle. Changes in long chain fatty acid derivatives and pyruvate oxidation were much less dramatic in white muscle. We propose that the rise in levels of long chain fatty acid derivatives may be directly related to the inhibition of carbohydrate oxidation during fasting in red skeletal muscle.
Distinguishing paramyotonia congenita and myotonia congenita by electromyography
Authors: Subramony S. H. , Malhotra C. P. , Mishra S. K. 
Published: January 2005

AbstractCompound muscle action potential (CMAP) amplitudes, response to 2 Hz nerve stimulation, response to exercise and electromyographic needle electrode examination findings from the thenar muscles of two patients with paramyotonia congenita were compared with those from two patients with dominantly inherited myotonia congenita in warm (34°C) and cold (20°C) states. Cold induced a significant fall in CMAP amplitude, induced/worsened a significant decremental response to 2 Hz stimulation, and virtually abolished myotonia and voluntary recruitment of motor unit potentials in patients with paramyotonia congenita; none of these occurred in myotonia congenita. Though exercise induced a mild fall in CMAP amplitude in both groups, postexercise fibrillations occurred only in patients with paramyotonia congenita. These findings serve to distinguish these two entities in the clinical electromyography laboratory.
Slowing of twitch of dystrophic mouse muscle is partially due to altered activity pattern
Authors: Parry David J. , Desypris George 
Published: January 2005

AbstractFast‐twitch muscles of the hindlimb of dystrophic (dy2J) mice show a prolongation of both the contraction and relaxation phases of the isometric twitch. Comparable muscles of the forelimb of these mice exhibit relatively little increase in time to peak tension but time to half‐relaxation is as severely affected as in the hindlimb. When examined with an immunohistochemical technique to demonstrate the presence of “slow” myosin it was apparent that there were no fibers containing the “slow” isoenzyme in either hindlimb or forelimb muscles of 6‐month control mice. In dy2J mice hindlimb muscles contained many fibers with “slow” myosin whereas forelimb muscles did not. It is suggested that the spontaneous twitching activity produced in the hindlimbs, as a result of amyelination of the spinal roots, induces synthesis of “slow” myosin, which in turn leads to prolongation of time to peak twitch tension.
Content of methylhistidines in normal and pathological human skeletal muscles
Authors: Mussini Emilio , Cornelio Ferdinando , Dworzak Federica , Cotellessa Laura , Morandi Lucia , Colombo Laura , De Ponte Gloria , Marcucci Franca 
Published: January 2005

AbstractThe content of 3‐methylhistidine (3‐MH) and 1‐methylhistidine (1‐MH) was measured in muscle biopsy specimens from 13 normal controls, 19 patients with Duchenne muscular dystrophy, 8 limb‐girdle disease patients, and 23 disease controls with different forms of muscular pathology. 3‐MH and 1‐MH concentrations in normal human muscle did not appear to be influenced by sex, body weight, and age, at least for subjects in the 10–60 year age group examined. Skeletal muscle 1‐MH levels did not significantly differ from mean control values in any of the pathologies investigated. In the patient population examined, the mean 3‐MH level per unit of noncollagen protein (NCP) was significantly lower than normal in Duchenne dystrophy only, the reduction being related to disease severity. The significantly lower concentrations of 3‐MH in muscle of Duchenne patients indicate the importance of measuring 3‐MH in diseased muscle to obtain reliable estimates of the myofibrillar protein catabolic rate.
Changes in elemental composition of single muscle fibers following tenotomy of the rat soleus muscle
Authors: Wróblewski Romuald , Edström Lars 
Published: January 2005

AbstractCores were produced in type 1 muscle fibers by tenotomy of rat soleus muscle. The morphology and histochemistry of the muscle fibers was established by light microscopy on cryostat sections stained for hematoxylin‐eosin or myofibrillar ATPase and on semithin plastic sections. The ultrastructure was visualized on thin plastic sections. On 6 μm of freeze‐dried cryosections, energy dispersive X‐ray microanalysis was performed on muscle fibers visualized in the scanning transmission mode of electron microscopy. This procedure permitted quantification of different intracellular elements such as sodium (Na), chlorine (CI), potassium (K), magnesium (Mg), sulphur (S), and phosphorus (P). Spectra from core fibers could easily be compared with those of normal fibers. A conspicuous finding was an increased Na and CI content and a decreased K content in core fibers compared to normal fibers. It is known that core fibers produced after tenotomy exhibit distinct changes in plasma membrane morphology similar to that found in Duchenne muscular dystrophy (DMD). The results in this study point to a change in normal intracellular ion composition which could be a result of a deficiency of mechanisms maintaining normal membrane ion gradients.
Malignant hyperthermia and related neuromuscular diseases: Caffeine contracture of the skinned muscle fibers
Authors: Takagi Akio , Sunohara Nobuhiko , Ishihara Tadayuki , Nonaka Ikuya , Sugita Hideo 
Published: January 2005

AbstractUsing the skinned fiber preparation, the response to caffeine was studied on the skeletal muscle of malignant hyperthermia or other neuromuscular diseases. The sensitivity to caffeine was increased in the muscle of malignant hyperthermia. The sensitivity also was increased in Duchenne muscular dystrophy or asymptomatic patients with raised serum creatine kinase activity. Judging from the interaction between caffeine and the contractile system, the abnormal response originated from the sarcoplasmic reticulum in malignant hyperthermia. In Duchenne muscular dystrophy, the contractile system also might be involved in the increased sensitivity. Since the disease spectrum presenting abnormal responses is broad, it is suggested that muscle fibers become sensitive to caffeine when they are degenerating or regenerating.
Maturational defect of regenerating muscle fibers in cases with duchenne and congenital muscular dystrophies
Authors: Miike Teruhisa 
Published: January 2005

AbstractImmature fibers in Duchenne muscular dystrophy (DMD) and congenital muscular dystrophies (CMD) were compared with human fetal muscles and experimentally‐induced regenerating muscle fibers using the acridine orange (AO) technique on fluorescent microscropy and histochemical methods. Strong AO activity was observed on immature fibers in dystrophies and on experimentally‐induced fibers in the early stages of regeneration. These young fibers showed type 2C histochemical reactions on ATPase stains. Human fetal muscles failed to show these fibers which were seen in the muscular dystrophies and the experimental regenerating muscle. From these results it is concluded that immature fibers in muscular dystrophies are early stages of regenerating fibers and not maturationally arrested fetal muscle fibers. In addition, these immature fibers formed small groups composed of 10 to 50 fibers in muscular dystrophies and sometimes large groups in CMD. It is suggested that the investigation of immature fibers and their grouping is quite important for revealing the pathogenesis of the muscular dystrophies.
Hypothesis: Duchenne dystrophy viewed as a disturbance of nerve‐muscle interactions
Authors: Vrbova Gerta 
Published: January 2005

AbstractThe possibility that some features of Duchenne muscular dystrophy (DMD) can be explained as a disturbance of nerve‐muscle interaction during development is discussed. It is argued that the initial disturbance in DMD is due to a slower rate of maturation of skeletal muscle fibers. Normally, the maturation of the motor reflexes is closely followed by maturation of the muscle fibers. The possibility is considered that if muscle fibers mature more slowly than normal, they are not able to withstand the type of activity imposed upon them by the mature motoneuron. This applies mainly to the high frequency activity imposed on the fibers of motor units that are destined to become “fast.” Experimental evidence suggesting such a mechanism is presented.
Occasional survey. Needle biopsy of skeletal muscle: A review of 10 years experience
Authors: Edwards R. H. T. , Round J. M. , Jones D. A. 
Published: January 2005

AbstractOver 1,000 needle biopsies have been carried out at University College Hospital in London. Needle biopsy has been used by us for histochemical and electron microscopic examination of muscle during the diagnosis and treatment of neuropathic and myopathic disorders, for the diagnosis of mitochondrial myopathies, to study the course of recovery in polymyositis, and for investigations into muscle changes in systemic lupus erythematosus (SLE) and other autoimmune conditions. We have developed a microprocessor system for the measurement of muscle fiber areas, and needle biopsy specimens provide suitable material for such measurements. We have also used needle biopsy specimens for studies of protein turnover using stable isotopes and for trace metal and electrolyte analyses. Needle biopsy is safe and rapid. As the patient usually experiences only minimal discomfort and thereis no permanent scar, repeat biopsies are well tolerated allowing follow‐up studies after treatment.
Emetine myopathy: Two case reports with pathobiochemical analysis
Authors: Sugie H. , Russin R. , Verity M. Anthony 
Published: January 2005

AbstractWe report two female patients with a history of alcohol abuse presenting with proximal painful muscle weakness following aversion therapy with emetine hydrochloride. Muscle biopsy of Case 1 showed a reversible floccular‐shaped loss of myosin ATPase and dehydrogenase, and accumulation of PAS positive material, and a normal lipid content. Repeat biopsy showed core change with no focal loss of myosin ATPase. In Case 2, muscle biopsy was taken 1 month after commencement of emetine therapy and revealed similar but milder changes to Case 1. Electron microscopy revealed Z‐band streaming with a decrease or loss of mitochondria. Sarcotubular systems appeared normal in shape and size. Anaerobic glycolysis on homogenate from the initial biopsy of Case 1 showed generalized reduction of lactate formation, which returned to normal in the repeat biopsy.
Bilateral carpal tunnel in childhood associated with Schwartz‐Jampel syndrome
Authors: Martínez A. Cruz , Arpa J. , Conde M. C. Pérez , Ferrer M. T. 
Published: January 2005

AbstractThe case of a 7‐year‐old girl, the only descendant of non‐con‐sanguineous parents, who presented typical features of the Schwartz‐Jampel syndrome and electrophysiological evidence of bilateral carpal tunnel is reported. Conventional electromyogram (EMG) showed persistent and continuous electrical activity and high frequency discharges elicited spontaneously by movement of the needle or after voluntary activation. Electrical silence after phenytoin therapy was sometimes seen. Single fiber electromyography (SFEMG) showed that high frequency discharges had a complex configuration and multiple components. Occasionally the discharges showed a progressive decrease in amplitude. Increased jitter was also found in some potential pairs that had been isolated under voluntary contraction after phenytion therapy. Motor and sensory conduction velocities on the median nerve were slowed bilaterally across the carpal tunnel. Bilateral carpal tunnel syndrome is an unusual condition in children and its clinical picture differs from that in adults. Carpal tunnel syndrome was not clinically suspected in the patient reported in this article and the diagnosis was confirmed by the conduction velocity study.
Effects of acrylamide and other sulfhydryl compounds in vivo and in vitro on staining of motor nerve terminals by the zinc iodide‐osmium technique
Authors: Kemplay Sheila , Cavanagh John B. 
Published: January 2005

AbstractThe zinc iodide‐osmium technique blackens motor nerve terminals by selectively staining synaptic vesicles. Intraperitoneal injections of acrylamide (30 mg/kg/day, 5 times each week) cause inhibition of staining by this technique so that approximately one third of the end‐plates in rat sternocostalis muscle are unstained after 24 hours, and by 17 days more than 70% are unstained. This is not associated with nerve fiber degeneration. A similar inhibition of staining can also be shown after prior incubation of the sternocostalis muscle in 4 mM acrylamide in oxygenated Ringer's solution. Intraperitoneal injection of the thiol group blocker N‐ethylmaleimide also causes marked inhibition of staining of motor end‐plates by this method. Dithiothreitol, which prevents the oxidation of thiol groups, will partly prevent the inhibition of staining by both acrylamide and N‐ethylmaleimide, when given in vivo.
Enzyme activities and activity profiles in muscle fibers of dystrophic, immature‐normal, and adult‐normal BL6 mice
Authors: Reichmann Heinz , Pette Dirk 
Published: January 2005

AbstractEnzyme activities of energy metabolism were determined in both homogenates and single fibers of immature‐normal (IN), adult‐normal (AN), and adult‐dystrophic (AD) tibialis anterior (TA) muscle of BL6 mice. Mitochondrial enzyme activities were similar in AN and AD, whereas lower activities were found in IN. Creatine kinase, glycogenolytic, and glycolytic enzyme activities were reduced but glucose 6‐phosphate dehydrogenase was elevated in AD and IN as compared to AN. IN and AD both showed an increase in the H‐subunit of lactate dehydrogenase. Microphotometric measurements of succinate dehydrogenase (SDH) revealed large fiber differences in AN whereas smaller scattering was observed both in IN and AD. Although similarities exist between enzyme and isozyme patterns of anaerobic metabolism in AD and IN, this does not hold for mitochondrial enzymes.
Electrophysiological diagnosis of interdigital neuropathy of the foot
Authors: Oh Shin J. , Kim Hyun S. , Ahmad Bashiruddin K. 
Published: January 2005

AbstractWe have devised a method of sensory nerve conduction in the interdigital nerves of the foot using the near‐nerve needle and signal averaging techniques. In 40 normal controls between the ages of 20 and 59, there was no difficulty in recording sensory compound nerve action potential (CNAP) in the various interdigital nerves. The amplitude of sensory CNAP ranged from 0.4–8.8 μV. The mean maximum nerve conduction velocities ranged from 33.3–40.5 M/second. In the group between 50–59 years old, nerve conduction changes due to aging were noted. In five patients with interdigital neuropathy (IDN) of the foot, a selective marked decrease in the amplitude of the CNAP in the involved interdigital nerve (“abnormal dip phenomenon”) was the most characteristic electrophysiological finding. The present technique is capable of recording the sensory CNAPs in the interdigital nerves of the foot and confirming the diagnosis of IDN electrophysiologically.
A technique for studying the greater auricular nerve conduction velocity
Authors: Palliyath Sarala K. 
Published: January 2005

AbstractA technique for studying sensory nerve conduction velocity of the greater auricular nerve according to one of the conventional methods is described. Latency and conduction velocities obtained from 35 nerves in 20 healthy adults were 1.7 ± 0.2 msec (SD) and 46.8 ± 6.6 m/sec (SD), respectively. This technique is easy to perform and is useful in documenting traumatic and other neuropathies involving the greater auricular nerve, as illustrated in the case report in this article.
Lambert‐eation myasthenic syndrome
Authors: Jablecki Charles 
Published: January 2005

AbstractThis review of the Lambert‐Eaton myasthenic syndrome (LEMS) emphasizes electrodiagnosis and includes a case report. A 50‐year‐old woman had become progressively weaker over 1.5 years. The suspected diagnosis was confirmed by the clinical electrophysiological findings and was made 6 months before the patient's oat‐cell carcinoma was found. After treating with local radiation and chemotherapy, the myasthenic syndrome went into remission as the pulmonary lesion resolved.
Increased myofibrillar protein catabolism in duchenne muscular dystrophy measured by 3‐methylhistidine excretion in the urine
Authors: Mussini Emilio , Cornelio Ferdinando , Colombo Laura , de Ponte Gloria , Giudici Giovanni , Cotellessa Laura , Marcucci Franca 
Published: January 2005

AbstractMyofibrillar protein catabolic rate was calculated in 50 young patients with Duchenne muscular dystrophy from the amount of 3‐methylhistidine excreted in the urine, and was found to be about seven times that of a control series, expressed as the percentage of myofibrillar protein catabolized per day. This wastage of myofibrillar protein is a consequence of Duchenne muscular dystrophy and inhibition of protein degradation appears to be one possible approach in the treatment of this disease.
Heterogeneity of spectrin distribution among avian muscle fiber types
Authors: Menold Marisa M. , Repasky Elizabeth A. 
Published: January 2005

AbstractMuscle spectrin has been examined in avian fast, slow, and mixed muscles using the techniques of immunofluorescence microscopy and immunoautoradiography. By immunofluorescence, fibers of the fasttwitch pectoralis major (PM) are seen to contain α‐spectrin antigen primarily at the sarcolemma, while in the slow‐tonic anterior latissimus dorsi (ALD), α‐spectrin antigen is found in high concentrations throughout the sarcoplasm as well as being present in association with the sarcolemma. In mixed (fast‐ and slow‐twitch) muscles of the leg, two populations of fibers can be distinguished: those which resemble the fibers of the PM and another group which displays interior staining similar to the fibers of the ALD. Histochemical staining for actomyosin ATPase reveals that the fibers of mixed muscles which contain the most spectrin antigen correspond to the slow‐twitch fibers. Supportive data were obtained using sodium dodecyl sulfate‐polyacrylamide gel electrophoresis (SDS‐PAGE) followed by immunoautoradiography. In slow muscle, an approximate threefold increase in α‐spectrin concentration relative to other proteins is evident. These results suggest that the distribution of α‐spectrin may be modified by the physiological state of the myofiber.
Anion permeability of toad skeletal muscle incubated in plasma and ringer solution
Authors: Macchia Donald D. , Didelot Mary J. , Anderson W. Marshall 
Published: January 2005

AbstractIsolated semitendinosus muscles of the toad were incubated in both Ringer solution and toad plasma for periods ranging from 45 to 170 minutes. The extracellular volume (ECV), as measured from the equilibrium distribution of 35SO42−, was found to increase (in gram extracellular (EC) water/gram wet weight) from 0.15 ± 0.01 to 0.20 ± 0.02 in muscles incubated in Ringer solution, whereas the ECV was found to remain constant in tissues incubated in plasma (0.16 ± 0.01 to 0.17 ± 0.01), for periods up to 170 minutes. Since the true ECV, as measured morphometrically, was found to remain unchanged for muscles incubated in Ringer solution for up to 3 hours, the data for these muscles were interpreted to represent a change in anion permeability of the cellular membranes in response to the absence of some plasma fraction from the Ringer solution (with an electrolyte composition and pH similar to that of plasma). When toad plasma albumin was added to the Ringer solution, in physiological concentrations, the ECV of the muscles was observed to remain relatively constant during the 3‐hour incubation period. This albumin effect on anion permeability was found to be albumin concentration‐dependent. Further, other sources of albumin were found to have varying degrees of effect on the anion permeability of toad muscle, with bovine albumin seving as the most acceptable substitute for toad albumin, when incubating semitendinosus muscles.
Increase in the amount of elongation factor 2 in chicken muscular dystrophy
Authors: Yoshikawa Akira , Takano‐Ohmuro Hiromi , Masaki Tomoh 
Published: January 2005

AbstractThe amount of elongation factor 2 (EF2) in the cytoplasm and ribosome of breast muscle cell from normal and dystrophic strains of chicken was measured. Concentration in the cytoplasm of 20‐day‐old embryonic dystrophic muscle was higher than that in normal muscle, but no difference in content was found in muscles of 15‐day‐old embryos. The amount of EF2 bound to ribosomes was identical in normal and dystrophic muscles during all stages of development. Peptide mapping patterns of partial proteolytic fragments of EF2 from normal and dystrophic chicken breast muscles were similar. The increase in cytoplasmic protein synthetic activity of dystrophic breast muscles reported previously seems to be due to the corresponding increase in the number of EF2 molecules rather than to their modification in dystrophic muscle.