bluuebunny/crossref_metadata_2025_split huggingface dataset:
Muscle regeneration and satellite cells in fukuyama type congenital muscular dystrophy
Authors: Terasawa Kenjiro 
Published: January 2005

AbstractTo determine the regenerative capability of muscle fibers in Fukuyama type congenital muscular dystrophy (FCMD), muscle biopsies from nine patients were subjected to morphological examination by histochemical and electron microscopic methods. These results were compared with those from six patients with Duchenne muscular dystrophy (DMD) and nine controls. Degenerating and regenerating fibers were not as frequent in FCMD as in DMD, whereas the number of type 2C fibers in the former was about twice that in the latter. On electron microscopy, numerous immature small fibers with disorganized myofibrils, an increased amount of intermediate filaments, large vesicular nuclei, and prominent nucleoli were observed in FCMD. Satellite cells (SCs), which are known to proliferate and contribute to muscle regeneration after myonecrosis, were not increased in number in FCMD. Their incidence, 7.7% ± 1.8%, was significantly lower than the 16.2% ± 4.0% in DMD (P < 0.005). Moreover, the ratio of area of SC nucleus to the overall area of the SC in FCMD, 64.1% ± 9.7%, was larger than that in DMD, 58.9% ± 9.3% (P < 0.005), suggesting that SCs of FCMD were not in an active state. These findings lead to the conclusion that in FCMD the regenerative process is delayed due to either intrinsic or extrinsic factors, such as dense interstitial fibrosis.
Emery—dreifuss muscular dystrophy: Report of five cases in a family and review of the literature
Authors: Merlini Luciano , Granata Claudia , Dominici Paola , Bonfiglioli Silvia 
Published: January 2005

AbstractClinical and laboratory data of five cases of Emery—Dreifuss muscular dystrophy in three generations of a family are reported. Severity of the myopathic picture varied in the five patients considerably from almost noninvolvement to severe manifestations. In contrast, cardiomyopathy was severe not only in three adults but also in a 13‐year‐old boy. A review is given of 73 cases from the 6 major families reported in the literature. Most striking is the high incidence of sudden death. A wide variability in the severity of the myopathic picture was also evident.
Nemaline myopathy of cats
Authors: Cooper Barry J. , De Lahunta Alexander , Gallagher Eleene A. , Valentine Beth A. 
Published: January 2005

AbstractAn apparently inherited myopathy, characterized by the presence of large numbers of nemaline rods in skeletal muscle fibers, was investigated in five cats. Onset of signs varied from 6 months to 1.5 years of age and consisted of reluctance to move, jerky gait and muscle twitching, hyporeflexia, and muscle wasting, which was most prominent in the proximal muscles of the forelimbs. All of the cats, three males and two females, were from the same dam. In addition to the presence of rods, the myopathy was characterized by marked fiber size variation, with atrophy of type 1 and type 2a muscle fibers. In addition, there was infolding of the sarcolemma and fiber splitting. Ultrastructurally, the rods closely resembled those described in human nemaline myopathy.
Motor endplate position of rat gastrocnemius muscle
Authors: Dekhuijzen Aarnoud J. , van Koetsveld Petrus A. , Baan Guustaaf C. , Woittiez Reinout D. , Huijing Peter A. 
Published: January 2005

AbstractIn this study, the relative endplate position of fibers of rat gastrocnemius caput mediale (GM) muscle was determined by counting numbers of sarcomeres. Isolated fibers were teased from the proximal, intermediate, and distal regions of the muscle. Endplates of distal fibers were located on the proximal third of their lengths. Endplates of intermediate fibers were located at half fiber length, and for proximal fibers, a variable endplate position was obtained: in half of the muscles studied, endplates occurred around the proximal one‐third and in the other half near the midpoint of the fiber. Endplate position relative to fiber length was thus found to be dependent on the region of the muscle. Changes in the orientation of endplate zone relative to the muscle belly is likely to take place with changes in muscle length, as shown by a planimetric muscle model. It is argued that architecture of pennate muscles may highly affect characteristics of motor unit potentials.
The effect of aerobic exercise on serum creatine kinase activities
Authors: Nicholson Garth A. , Morgan Graeme J. , Meerkin Matthew , Strauss Eric R. , McLeod James G. 
Published: January 2005

AbstractAerobic exercise is now a common form of recreational exercise among young women. In a previous study, more than a third of a group of young mothers volunteering blood samples to establish a creatine kinase (CK) reference range for Duchenne muscular dystrophy (DMD) carrier detection regularly‐participated in aerobic exercise programs. Aerobic exercise programs include eccentric exercises. As eccentric exercise is known to produce a delayed CK peak, this study was carried out to determine the effect of aerobic exercise on serum CK activities. The postexercise serum CK activity peak was monitored in 15 young women (age range 20–23 years) following aerobic exercise classes (45 minutes on 3 consecutive days). Peak values at 24–48 hours following the last class ranged from 90 to 3473 U/liter, or 1.55 to 34.71 times resting values. It is concluded that aerobic exercise programs should be excluded in order to obtain accurate resting serum CK values for muscle disease diagnosis.
Recent advances in the pathogenesis of diabetic neuropathy. Clues from human diabetic neuropathy
Authors: Low Phillip A. 
Published: January 2005

AbstractRecent advances in the understanding of the pathogenesis of diabetic neuropathy have been made in six areas. (1) There is support for the notion that a reduction in nerve free myoinositol may be responsible in part for the nerve conduction slowing in diabetic neuropathy. (2) There is further evidence of microvascular abnormalities, including morphometric evidence of multifocal fiber loss and of capillary changes in biopsied sural nerve. (3) There is evidence of endoneurial hypoxia, including the findings of reduced nerve blood flow and endoneurial oxygen tensions in chronic experimental diabetic neuropathy (EDN). (4) The major mechanisms of resistance to ischemic conduction failure (RICF) is the marked increase in nerve energy substrates. (5) Recent studies provide certain insights into clinical characteristics of human diabetic neuropathy (HDN), including the assymetric pattern of HDN, the paradox between liability to pressure palsies and RICF, and insulin‐related acute painful neuropathy. (6) The suggested pathogenetic scheme incorporates the notion that once hypoxia is established, it may start a vicious cycle of further capillary damage and escalating hypoxia.
Primary segmental demyelination in the sural nerve in cockayne's syndrome
Authors: Ohnishi Akio , Mitsudome Akihisa , Murai Yoshiyuki 
Published: January 2005

AbstractIn a typical case of Cockayne's syndrome, morphometric histopathologic findings of the sural nerve were described and compared with data on two controls. The main pathologic changes of myelinated fibers were segmental demyelination and remyelination with onion bulb formation and a moderate decrease of myelinated fibers. There was no evidence of axonal atrophy in relation to myelin spiral length. In addition, no evidence of the clustered occurrence of demyelinated and remyelinated internodes was obtained on the statistical evaluation of the distribution of such internodes. Although the presence or absence of hypomyelination of a mild degree and maldevelopment of axons to be myelinated has not been clarified, our morphometric data do suggest the presence of primary segmental demyelination of the biopsied sural nerve.
A critical review of therapies in acute and chronic inflammatory demyelinating polyneuropathies
Authors: Pollard J. D. 
Published: January 2005

AbstractAcute and chronic inflammatory demyelinating neuropathies are among the most common treatable neuropathies seen by neurologists. Evidence for effective therapy has only recently been provided by randomized or controlled trials. In the Guillain‐Barré syndrome such evidence does not support the use of corticosteroids or immunosuppressive agents. However, when used early in the course, plasma exchange (PE) has been shown to lessen the severity and shorten the duration of the disease; it is indicated only in severely paralyzed patients or those whose rapid deterioration suggests the imminent need for ventilatory support.Some patients with chronic inflammatory demyelinating polyneuropathy (CIDP) respond to corticosteroid therapy or other immunosuppressive agents. PE is also effective in certain patients, but there is no sound evidence to data concerning combined immunosuppression and PE. The rationale of PE in these conditions and whether it is the removal of a toxic factor or the replacement fluid used that is beneficial remains to be clarified.
Ischemic exercise test: Failure to detect partial expression of Mcardle's disease
Authors: Taylor Robert G. , Lieberman James S. , Portwood Margaret M. 
Published: January 2005

AbstractThe forearm ischemic exercise test (FIET) is a very important clinical tool for evaluation of patients suspected to have a metabolic disorder of muscle function. Failure to elevate lactate in blood washed out from ischemically exercised muscles confirms an abnormality of glycolytic metabolism. A normal increase of lactate on FIET is assumed to rule out a disorder of glycolytic metabolism. Two patients with low levels of muscle phosphorylase are presented who produced a normal elevation of lactate on FIET. This suggests that, although the FIET is capable of identifying patients with absence of myophosphorylase, the test cannot identify patients with a partial expression of that disorder. Evaluation of the blood samples for ammonia in addition to lactate can be a significant help in confirming that the exercise performed by the patient was an adequate challenge for the glycolytic pathway. In addition, failure to elevate ammonia on ischemic exercise can identify a relatively new disorder of muscle metabolism.
Distant effects of local injection of botulinum toxin
Authors: Lange Dale J. , Brin Mitchell F. , Warner Carolyn L. , Fahn Stanley , Lovelace Robert E. 
Published: January 2005

AbstractWe studied five patients who received local injections of botulinum toxin for dystonic disorders to determine if there had been any distant effect on neuromuscular transmission. No patient developed weakness or abnormalities on routine electrophysiologic testing. In all patients who received more than 245 U of toxin, SFEMG in the extensor digitorum communis muscle, a muscle distant to all those injected, was abnormal. Fiber density was increased in the two patients who received the largest cumulative dose. Jitter was maximally increased at slow firing rates, confirming its presynaptic basis. Our results reveal that there is an effect on neuromuscular transmission in muscles distant to those injected with botulinum toxin for dystonia.
AAEE minimonograph #27: Differential diagnosis of myotonic syndromes
Authors: Streib Erich W. 
Published: January 2005

AbstractRecent advances in neuromuscular diseases have also widened the diagnostic spectrum of myotonic disorders. Treatment, prognosis, and genetic aspects are different in the various syndromes and mandate a correct diagnosis. The combination of neurologic examination, standard EMG, exercise test, cold exposure, potassium loading, eye examination, and pedigree analysis allows correct classification of nearly all patients with myotonic disorders. In this review emphasis is placed on clinical features and electrophysiologic evaluation.
Conduction block in hereditary neuropathy with susceptibility to pressure palsies
Authors: Sellman Michael S. , Mayer Richard F. 
Published: January 2005

AbstractSlow nerve conduction velocities, temporal dispersion of action potentials and conduction block occur in polyneuropathies with segmental demyelination. Conduction block has been reported in focal compressive neuropathies and in acute and chronic autoimmune polyneuropathy but not in hereditary motor and sensory demyelinating neuropathy. We report conduction block in five nerves of four patients from two families with a hereditary neuropathy with susceptibility to pressure palsies and pathologic changes of segmental demyelination and tomaculous swellings. Conduction block that may be long lasting is a feature of this type of hereditary neuropathy, which should be considered in the differential diagnosis of this electrophysiologic finding.
Interactions of vitamin E and penicillamine in the treatment of hereditary avian muscular dystrophy
Authors: Serafin William E. , Dement Samuel H. , Brandon Suzanne , Hill Edward J. , Park Charles R. , Park Jane H. 
Published: January 2005

AbstractOur prior work demonstrated that penicillamine treatment of dystrophic chickens delayed the onset of symptoms, partially alleviated contractures, improved muscle function, and lowered serum creatine kinase. Penicillamine, a sulfhydryl compound with reducing properties, also prevented inactivation of glycolytic enzymes by protecting thiol groups. The present study shows that vitamin E enhances the therapeutic effects of penicillamine. Interaction of these two reductants is dose related. With vitamin E as adjunct therapy, the dosage level of penicillamine could be lowered by 50%, thereby minimizing side effects. The therapeutic rationale for two antioxidants is that penicillamine may act primarily in the cytoplasm to prevent oxidative damage, whereas the more hydrophobic vitamin E may protect membrane bilayers. Additionally, penicillamine may prevent collagen cross7hyphen;linking and, deposition of insoluble collagen in muscle and thus decrease contracture formation. General applications of combined penicillamine and vitamin E therapy are discussed regarding prevention of free radical and oxidative damage in Duchenne dystrophy and a wide range of human diseases.
Nature and properties of cytotoxic plasma activity in amyotrophic lateral sclerosis
Authors: Ronnevi Lars‐Olof , Conradi Sebastian , Karlsson Evert , Sindhupak Ratana 
Published: January 2005

AbstractCytotoxic activity of plasma towards normal red blood cells in patients with amyotrophic lateral sclerosis (ALS) has been studied as a function of progressive plasma dilution and compared with plasma from patients with Charcot–Marie–Tooth's disease (CMT). At progressive dilution the hemolysis by ALS‐plasma showed a specific pattern that differed qualitatively and quantitatively from that of normal plasma as well as CMT and persisted up to a dilution of 1:6561. Differences in dilution pattern were found when comparing different clinical types of ALS. There was evidence for a partial complement dependancy of the reaction that brings about the hemolysis provoked by ALS plasma. Experiments with plasma fractionated by gel filtration and with isolated immunoglobulins produced evidence for cytotoxic properties of IgA and IgG from ALS plasma. The observations speak in favor of a consistency between the observations of plasma cytotoxicity in ALS and earlier observations on immunological abnormalities in the disease.
Two types of mitochondrial crystals in diseased human skeletal muscle fibers
Authors: Farrants George W. , Fil Sven Hovmöller , Stadhouders Ad. M. 
Published: January 2005

AbstractMitochondrial crystalline inclusions, frequently found in mitochondrial myopathies, were analyzed by crystallographic techniques and computer‐aided image processing. It could be shown that these structures were real crystals. There are two distinct types of crystal, which can be distinguished by shape, size, and pattern. So‐called type I crystals are usually present in the intracristal space, whereas the type II crystals are preferentially located in the intermembrane space between outer and inner mitochondrial membranes. The unit cell dimensions were found to be 38 × 34 × 8 nm for the type I crystals and 20 × 17 × 8 nm for the type II crystals. These results strongly suggest that the crystals are composed of macromolecules, presumably proteins. Arguments are presented that indicate that type I crystals occur only in type 1 muscle fibers and type II crystals in type 2 muscle fibers.
Real‐time ultrasound imaging of muscles
Authors: Heckmatt J. Z. , Pier N. , Dubowitz V. 
Published: January 2005

AbstractA prospective study was done on 222 consectutive new patients referred to our pediatric muscle clinic to assess the diagnostic value of ultrasound imaging. Ultrasound scans were interpreted without knowledge of clinical presentation or results of other tests. Muscular dystrophy produced a brightly speckled pattern of increased echo from the muscle, whereas spinal muscular atrophy showed a moderate increase in muscle echo and associated muscle atrophy. Acute dermatomyositis produced a moderate increase in echo that varied markedly with the direction of the ultrasound beam in relation to the muscle fibres. The ultrasound scan was normal in children with hypotonia of cerebral origin, Prader Willi syndrome, ligamentous laxity, and other “nonneuromuscular” causes. In eight patients ultrasound scanning showed a striking degree of selective involvement of individual components of the quadriceps muscle, which provided considerable diagnostic help for selective needle biopsy. Ultrasound scanning in children has the major advantage of being a nonivasive and pleasant out‐patient procedure, which can be readily done on multiple sites. It is a valuable screening test in the investigation of children with neuromuscular disorders.
Multifocal acquired demyelinating neuropathy masqurading as motor neuron disease
Authors: Parry Gareth J. , Clarke Stephen 
Published: January 2005

AbstractWe report five patients with pure motor neuropathy characterized by multifocal weakness, muscle atrophy that was sometimes profound, cramps, and fasciculations with relatively preserved reflexes. The clinical picture led to an initial diagnosis of motor neuron disease in all cases, but nerve conduction studies revealed multifocal conduction block confined to motor axons and predominantly involving proximal nerve segments. Routine sensory nerve conduction studies, ascending compound nerve action potentials, and somatosensory evoked potentials were all normal even through nerve segments in which motor conduction was severely blocked. Onset of symptoms was insidious, and progression was indolent. In two cases, after many years of neuropathy, sensory abnormalities developed but remained clinically trivial. These unusual cases probably have the same pathogenesis as previously described patients with persistent multifocal conduction block. Distinction from motor neuron disease is critical, since chronic demyelinating neuropathy may respond to treatment.
Axonal conduction velocity and force of single human motor units
Authors: Dengler Reinhard , Stein Richard B. , Thomas Christine K. 
Published: January 2005

AbstractTungsten microelectrodes of the type used for microneurography have been used to record motor units selectively from the first dorsal interosseous and abductor pollicis brevis muscles of normal subjects and patients who had had complete sections of the ulnar or median nerve. After determining the recruitment threshold and the twitch tension (spike‐triggered averaging) of a single unit, its nerve was stimulated at the wrist and the elbow using surface electrodes. By adjusting the position of the surface electrode and the stimulus intensity and by using computerized subtraction of responses just above and below threshold for a given unit, the same motor unit could often be identified in response to stimulation at both sites and its conduction velocity determined. The twitch tension and recruitment threshold of the motor units were closely correlated with the conduction velocity of the motor axons in normal subjects. Preliminary data from patients suggests that this method should be applicable to patients with a number of neuromuscular disorders.
Entrapment neuropathy of the ulnar nerve at its point of exit from the flexor carpi ulnaris muscle
Authors: Campbell William W. , Pridgeon Rhonda M. , Sahni Singh K. 
Published: January 2005

AbstractThe ulnar nerve normally enters the flexor carpi ulnaris (FCU) proximally and anteriorly between the humeral and ulnar heads of the muscle. After an intramuscular course of several centimeters, the nerve exits the FCU distally to lie in a tissue plane between the FCU and the flexor digitorum profunds (FDP). A patient with ulnar neuropathy studied by intraoperative electroneruography demonstrated major focal conduction block at the point where the nerve exited the FCU. A fivefold increase in amplitude and reversal of a dispersed, irregular compound muscle action potential to a more normal configuration occurred with stimulation just distal to the point of exit. There was no evidence by inspection, probing, or electroneurography of compression in the retrocondylar groove or at the cubital tunnel. In a series of 100 cadaver dissections, the intermuscular septum between FCU and FDP was thick and tough in several specimens. This septum may represent a site of ulnar nerve entrapment.
Peripheral neuropathy in late onset spinocerebellar ataxia
Authors: Nousiainen Unto , Partanen Juhani , Laulumaa Veikko , Paljäurvi Leo 
Published: January 2005

AbstractWe studied 10 patients with late onset spinocerebellar ataxia including electrophysiological and muscle biopsy examinations. Nerve conduction studies of eight patients revealed axonal neuropathy, and six cases also showed signs of the involvement of the lower motor neuron. In 9 patients quantitative analysis of single motor unit potentials (MUPs) of the tibialis anterior or biceps brachii muscles showed mild to severe neuropathic changes and in all 10 patients the histopathological examination of the tibialis anterior showed mild to severe neuropathic changes. Neither nerve conduction studies, quantitative MUP analysis, nor histological findings of the muscle were related to the severity or duration of the disease.
Somatosensory evoked potentials: Lack of value for diagnosis of thoracic outlet syndrome
Authors: Veilleux Martin , Stevens J. Clarke , Campbell J. Keith 
Published: January 2005

AbstractTwenty patients with thoracic outlet syndrome (TOS) seen at the Mayo Clinic between October 1984 and November 1985 were studied prospectively with routine nerve conduction studies, concentric needle examination, and bilateral median and ulnar somatosensory evoked potentials (SEPs). Results of nerve conduction studies and needle examination were abnormal in 30% of the patients, one patient having a reduced ulnar sensory nerve action potential amplitude and five others having neurogenic motor unit potential changes in the hand muscles. Ulnar SEPs were abnormal in three patients (15%), and median SEPs were abnormal in one patient, who also had abnormalities in ulnar SEPs. In patients with TOS, routine nerve conduction studies and needle examination were the most helpful electrophysiologic studies in excluding more common conditions. The routine use of ulnar SEPs in the evaluation of patients with TOS is probably not worth‐while.