bluuebunny/crossref_metadata_2025_split huggingface dataset:
Familial dysautonomia
Authors: Axelrod Felicia B. 
Published: February 2004

AbstractFamilial dysautonomia (FD) is a neurodevelopmental genetic disorder within the larger classification of hereditary sensory and autonomic neuropathies, each caused by a different genetic error. The FD gene has been identified as IKBKAP. Mutations result in tissue‐specific expression of mutant IκB kinase‐associated protein (IKAP). The genetic error probably affects development, as well as maintenance, of neurons because there is neuropathological and clinical progression. Pathological alterations consist of decreased unmyelinated and small‐fiber neurons. Clinical features reflect widespread involvement of sensory and autonomic neurons. Sensory loss includes impaired pain and temperature appreciation. Autonomic features include dysphagia, vomiting crises, blood pressure lability, and sudomotor dysfunction. Central dysfunction includes emotional lability and ataxia. With supportive treatment, prognosis has improved greatly. About 40% of patients are over age 20 years. The cause of death is usually pulmonary failure, unexplained sudden deaths, or renal failure. With the discovery of the genetic defect, definitive treatments are anticipated. Muscle Nerve 29: 352–363, 2004
Intraoperative cranial nerve monitoring
Authors: Harper C. Michel 
Published: February 2004

AbstractThe purpose of intraoperative monitoring is to preserve function and prevent injury to the nervous system at a time when clinical examination is not possible. Cranial nerves are delicate structures and are susceptible to damage by mechanical trauma or ischemia during intracranial and extracranial surgery. A number of reliable electrodiagnostic techniques, including nerve conduction studies, electromyography, and the recording of evoked potentials have been adapted to the study of cranial nerve function during surgery. A growing body of evidence supports the utility of intraoperative monitoring of cranial nerve nerves during selected surgical procedures. Muscle Nerve 29: 339–351, 2004
Focal myositis associated with S‐1 radiculopathy: Report of two cases
Authors: Streichenberger Nathalie , Meyronet David , Fiere Vincent , Pellissier Jean‐François , Petiot Philippe 
Published: February 2004

AbstractTwo cases are described of pseudotumoral calf hypertrophy after laminectomy for a compressive S‐1 radiculopathy. The serum creatine kinase (CK) level was normal or mildly elevated. T2‐weighted magnetic resonance imaging (MRI) showed calf enlargement, with an increased signal of the medial head of the gastrocnemius muscle. Electromyography revealed fibrillation potentials and positive sharp waves, but no complex repetitive discharges in the affected gastrocnemius muscle, with motor unit potentials having mixed neurogenic and myopathic features. Muscle biopsy revealed a focal myositis associated with some features of denervation. A brief course of corticosteroids was followed by remission clinically and improvement in the MRI findings. Muscle Nerve 29: 443–446, 2004
Sarcoid polyneuropathy responsive to intravenous immunoglobulin
Authors: Heaney Dominic , Geddes Jennian F. , Nagendren Kulan , Swash Michael 
Published: February 2004

AbstractWe describe a 38‐year‐old woman with a predominantly sensory axonal polyneuropathy in whom a nerve biopsy demonstrated sarcoid granulomas. The neuropathy did not respond to oral steroid therapy but there was a rapid and repeated response to intravenous immunoglobulin, which gradually diminished over subsequent treatments, but remained beneficial. The systemic sarcoidosis remained active. Muscle Nerve 29: 447–450, 2004
MNGIE neuropathy: Five cases mimicking chronic inflammatory demyelinating polyneuropathy
Authors: Bedlack Richard S. , Vu Tuan , Hammans Simon , Sparr Steven A. , Myers Bennett , Morgenlander Joel , Hirano Michio 
Published: February 2004

AbstractWe report five patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) who had demyelinating peripheral neuropathy. The MNGIE neuropathy had clinical and electrodiagnostic features typical of acquired, rather than inherited, etiologies. In fact, three patients were actually treated for chronic inflammatory demyelinating polyneuropathy (CIDP). We discuss findings that may help distinguish patients with MNGIE from those with CIDP. Muscle Nerve 29: 364–368, 2004
Lack of association between acetylcholine receptor ϵ polymorphisms and early‐onset myasthenia gravis
Authors: Bonifati Domenico Marco , Willcox Nick , Vincent Angela , Beeson David 
Published: February 2004

AbstractA patient with mutations in the acetylcholine receptor (AChR) ϵ subunit, who subsequently developed autoimmune myasthenia gravis (MG), led us to search for ϵ AChR mutations and polymorphisms in 167 patients with early‐onset MG. No ϵ‐subunit mutations or increased incidence of exonic ϵ‐subunit polymorphisms were found. The allelic frequency of the intron polymorphism IVS11+ 20del20 was more prevalent in non–United Kingdom subjects, both patients and healthy individuals, than in United Kingdom subjects (15.8 vs. 6.2%, P = 0.0008) but not between MG patients and healthy individuals. These data provide no evidence that heteroallelic mutations or polymorphisms in the AChR ϵ subunit are involved in the development of autoimmune early‐onset MG but raise issues for future studies. Muscle Nerve 29: 436–439, 2004
Changes in characteristics of rat skeletal muscle after experimental allergic encephalomyelitis
Authors: de Haan A. , van der Vliet M.R. , Hendriks J.J.A. , Heijnen D.A.M. , Dijkstra C.D. 
Published: February 2004

AbstractExperimental allergic encephalomyelitis (EAE) serves as an animal model for certain neuroinflammatory diseases of the central nervous system, in particular multiple sclerosis (MS). EAE is accompanied by transient weakness or paralysis of hind limbs. We have investigated the effect of partial and transient conduction failure in the central nervous system on skeletal muscle function. At ∼2.5 days after development of maximal clinical signs, body and medial gastrocnemius muscle mass were lower (by ∼21 and 33%, respectively; P < 0.05) in EAE rats compared with controls. Fiber cross‐sectional area was lower by 40–50% in all fiber types. Maximal force and power were substantially lower (by 58% and 73%) in EAE rats, as was the force normalized for muscle mass (35%). However, no such weakness was found when lower stimulation frequencies were used. Generation of similar submaximal forces was attributable to a slower relaxation in EAE muscles. This advantage for the EAE muscles was lost during repeated exercise. While fatigability was similar, the difference in relaxation rate between EAE and control disappeared in fatigue. Our data suggest that, as a result of central neuroinflammatory diseases, maximal performance of skeletal muscle is impaired but submaximal performance is relatively well maintained. Muscle Nerve 29: 369–375, 2004
Biopsy‐proven alpha‐glucosidase deficiency with normal lymphocyte enzyme activity
Authors: Whitaker Charles H. , Felice Kevin J. , Natowicz Marvin 
Published: February 2004

AbstractAlpha‐glucosidase deficiency is a rare cause of muscle disease in adults. The diagnosis relies on recognition of the salient clinical features and determination of significantly reduced alpha‐glucosidase (GAA) activity. Lymphocytes are the usual tissue for diagnostic enzymology; discrepant results from analyses of different tissues are unusual. We report a patient with clinical, electromyographic, and biopsy findings indicative of alpha‐glucosidase deficiency whose muscle and lymphocyte enzyme results were markedly discrepant on multiple analyses. As a result, we conclude that all patients with suspected alpha‐glucosidase deficiency and a normal lymphocyte GAA assay should also have a determination of GAA activity in muscle or skin fibroblasts. Muscle Nerve 29: 440–442, 2004
Electrodiagnostic features of acute paralytic poliomyelitis associated with West Nile virus infection
Authors: Al‐Shekhlee Amer , Katirji Bashar 
Published: February 2004

AbstractWest Nile virus (WNV) infection is a potentially fatal disease, with meningoencephalitis being its most common neurological manifestation. Guillain–Barré syndrome (GBS) has also been described, but acute paralytic poliomyelitis has only recently been recognized. We report the clinical and electrodiagnostic findings of five patients with WNV infection, who presented with acute paralytic poliomyelitis. Three patients manifested focal asymmetrical weakness, and two had rapid ascending quadriplegia mimicking GBS. Electrodiagnostic studies during the acute illness showed normal sensory nerve action potentials, compound motor action potentials of normal or reduced amplitude, and no slowing of nerve conduction velocities. Depending on the timing of the examination, fibrillation potentials were widespread, including in those with focal weakness. Cervical magnetic resonance imaging in one patient showed abnormal T2‐weighted signals in the spinal cord gray matter. On follow‐up, signs of clinical improvement were seen in one patient, whereas two remained quadriplegic and ventilator‐dependent 5 months after the onset. This report highlights the value of the electrodiagnostic studies in the diagnosis and prognosis of focal or generalized weakness due to acute paralytic poliomyelitis associated with WNV infection. Muscle Nerve 29: 376–380, 2004
Neurotrophins improve neuromuscular transmission in the adult rat diaphragm
Authors: Mantilla Carlos B. , Zhan Wen‐Zhi , Sieck Gary C. 
Published: February 2004

AbstractNeurotrophins modulate acute and sustained synaptic plasticity. In cultured Xenopus laevis neuromuscular junctions, neurotrophins improve neuromuscular transmission. Whether this influence exists at the mammalian neuromuscular junction is unknown. We hypothesized that neurotrophins improve neuromuscular transmission at neuromuscular junctions of adult rat diaphragm muscle fibers. A diaphragm muscle—phrenic nerve preparation was used to determine the effects of brain‐derived neurotrophic factor (BDNF), neurotrophin‐4 (NT‐4) and K252a [tyrosine kinase (Trk) receptor inhibitor] on the extent of neuromuscular transmission failure induced by repetitive nerve stimulation. We found significant enhancement of neuromuscular transmission with BDNF or NT‐4 treatment, whereas K252a treatment worsened neuromuscular transmission. In contrast, diaphragm muscle contractile and fatigue properties were unaffected by neurotrophin or K252a treatment. These results demonstrate that BDNF and NT‐4 improve synaptic transmission in the adult rat diaphragm muscle, likely in a Trk‐dependent fashion. Neurotrophins may constitute a novel therapeutic target to improve neuromuscular function in the diaphragm. Muscle Nerve 29: 381–386, 2004
Oxaliplatin‐induced neurotoxicity: Acute hyperexcitability and chronic neuropathy
Authors: Lehky T.J. , Leonard G.D. , Wilson R.H. , Grem J.L. , Floeter M.K. 
Published: February 2004

AbstractOxaliplatin, a platinum‐based chemotherapeutic agent, is effective in the treatment of solid tumors, particularly colorectal cancer. During and immediately following oxaliplatin infusion, patients may experience cold‐induced paresthesias, throat and jaw tightness, and occasionally focal weakness. We assessed nerve conduction studies and findings on needle electromyography of patients with metastatic colorectal cancer before and during treatment with oxaliplatin. Twenty‐two patients had follow‐up studies within 48 h following oxaliplatin infusions, and 14 patients had follow‐up studies after 3–9 treatment cycles. Repetitive compound muscle action potentials and neuromyotonic discharges were observed in the first 24–48 h following oxaliplatin infusion, but resolved by 3 weeks. After 8–9 treatment cycles, sensory nerve action potential amplitudes declined, without conduction velocity changes or neuromyotonic discharges. The acute neurological symptoms reflect a state of peripheral nerve hyperexcitability that likely represents a transient oxaliplatin‐induced channelopathy. Chronic treatment causes an axonal neuropathy similar to other platinum‐based chemotherapeutic agents. Muscle Nerve 29: 387–392, 2004
Evoked pain in the motor endplate region of the brachial biceps muscle: An experimental study
Authors: Qerama Erisela , Fuglsang‐Frederiksen Anders , Kasch Helge , Bach Flemming W. , Jensen Troels Staehelin 
Published: February 2004

AbstractSpontaneous electrical activity, interpreted as motor endplate activity, has been reported at muscle trigger points. This study examined whether the motor endplate region, identified by electromyography, is more sensitive to noxious stimuli than other muscle sites. We induced pain in the brachial biceps muscles of 21 healthy subjects by injecting capsaicin (30 μg/0.1 ml) and NaCl (5%/0.2 ml) in the motor endplate region and at electrically silent muscle sites. Needle and evoked pain were measured by a visual analogue scale (VAS) (0–10) and the short form of the McGill Pain Questionnaire. The needle pain in the motor endplate region differed both in intensity and quality from that at other sites. The maximal pain after NaCl 5% was higher, and the VAS area‐under‐the‐curve for NaCl 5% and capsaicin were larger, in the motor endplate region than in other sites. A higher density of muscle nociceptors in the vicinity of the motor endplate region may account for the observed differences in pain. These findings may have clinical implications for the treatment of musculoskeletal pain conditions. Muscle Nerve 29: 393–400, 2004
Analysis of force profile during a maximum voluntary isometric contraction task
Authors: Househam Elizabeth , McAuley John , Charles Thompson , Lightfoot Timothy , Swash Michael 
Published: February 2004

AbstractThis study analyses maximum voluntary isometric contraction (MVIC) and its measurement by recording the force profile during maximal‐effort, 7‐s hand‐grip contractions. Six healthy subjects each performed three trials repeated at short intervals to study variation from fatigue. These three trials were performed during three separate sessions at daily intervals to look at random variation. A pattern of force development during a trial was identified. An initiation phase, with or without an initiation peak, was followed by a maintenance phase, sometimes with secondary pulses and an underlying decline in force. Of these three MVIC parameters, maximum force during the maintenance phase showed less random variability compared to intertrial fatigue variability than did maximum force during the initiation phase or absolute maximum force. Analysis of MVIC as a task, rather than a single, maximal value reveals deeper levels of motor control in its generation. Thus, force parameters other than the absolute maximum force may be better suited to quantification of muscle performance in health and disease. Muscle Nerve 29: 401–408, 2004
Specific assembly pathway of sarcoglycans is dependent on beta‐ and delta‐sarcoglycan
Authors: Shi Weixing , Chen Zaili , Schottenfeld Jodi , Stahl Richard C. , Kunkel Louis M. , Chan Yiu‐Mo 
Published: February 2004

AbstractMutations in sarcoglycans (SG) have been reported to cause autosomal‐recessive limb‐girdle muscular dystrophy (LGMD) and dilated cardiomyopathy. In skeletal and cardiac muscle, sarcoglycans exist as a complex of four transmembrane proteins (α‐, β‐, γ‐, and δ‐SG). In this study, the assembly of the sarcoglycan complex was examined in a heterologous expression system. Our results demonstrated that the assembly process occurs as a discrete stepwise process. We found that β‐SG appears to play an initiating role and its association with δ‐SG is essential for the proper localization of the sarcoglycan complex to the cell membrane. The incorporation of α‐SG into the sarcoglycan complex occurs at the final stage by interaction with γ‐SG. These findings were supported by chemical cross‐linking of endogenous sarcoglycans in cultured myotubes. We have also provided evidence that glycosylation‐defective mutations in β‐SG and a common mutation in γ‐SG (C283Y) disrupt sarcoglycan‐complex formation. Our proposed model for the assembly and structure of sarcoglycans should generate important insight into their function in muscle as well as their role in muscular dystrophies and cardiomyopathies. Muscle Nerve 29: 409–419, 2004
Epidermal nerve fiber density, axonal swellings and QST as predictors of HIV distal sensory neuropathy
Authors: Herrmann David N. , McDermott Michael P. , Henderson Don , Chen Lin , Akowuah Kwame , Schifitto Giovanni ,   the North East Aids Dementia (NEAD) Consortium
Published: February 2004

AbstractWe investigated the associations of baseline epidermal nerve fiber (ENF) densities and morphology (percent ENF swellings) and quantitative sensory testing (QST) with clinically defined human immunodeficiency virus (HIV)‐associated distal polyneuropathy (DSP) and whether these measures are predictive of development of symptomatic DSP over time. Fifty‐seven HIV‐infected subjects with and without DSP and 19 controls participated. Mean ENF densities were lower at the distal leg and proximal thigh in asymptomatic or symptomatic DSP than in controls. Mean ENF densities did not differ significantly among the HIV groups. Percent ENF swellings was higher in patients with symptomatic DSP than controls at the distal leg, and was also greater at the proximal thigh in patients with asymptomatic or symptomatic DSP than in controls. The percent ENF swellings at the distal leg correlated with the thresholds for both minimal (HP 0.5) and intermediate (HP 5.0) heat pain (HP) intensity. A higher percent ENF swellings in the distal leg [hazard ratio (HR) 1.16, 95% CI 1.02–1.31] and HP 0.5 thresholds (HR 1.03, 95% CI 1.01–1.05) were the only two measures associated with a shorter time to development of symptomatic DSP. Quantitation of ENF swellings and heat pain thresholds deserve further study as predictors of symptomatic neuropathy. Muscle Nerve 29: 420–427, 2004
Effect of muscle creatine content manipulation on contractile properties in mouse muscles
Authors: Eijnde Bert O. , Lebacq Jean , Ramaekers Monique , Hespel Peter 
Published: February 2004

AbstractThe effects of muscle creatine manipulation on contractile properties in oxidative and glycolytic muscles were evaluated. Whereas control mice (NMRi; n = 12) received normal chow (5 g daily), three experimental groups were created by adding creatine monohydrate (CR group; 5%, 1 week; n = 13); β‐guanidinoproprionic acid, an inhibitor of cellular creatine uptake (β‐GPA group; 1%, 2 weeks; n = 12); or CR following β‐GPA (β‐GPA+CR group; n = 11). Total creatine (TCr) and the contractile properties of incubated soleus and extensor digitorum longus (EDL) muscles were determined. For the soleus, compared with control, TCr increased in the CR group (+25%), decreased in β‐GPA group (−50%), and remained stable in the β‐GPA+CR group, whereas, for the EDL, TCr was similar in the CR, and lower in the β‐GPA (−40%) and β‐GPA+CR (−15%) groups. None of the experimental groups (CR, β‐GPA, or β‐GPA+CR) showed changes in peak tension (Ppeak), time to peak tension, or relaxation in soleus or EDL during twitch or tetanic stimulation. For the soleus, fatigue reduced Ppeak to ∼60% of initial Ppeak; 5 min of recovery restored Ppeak to values ∼15% higher in CR than in controls. Ppeak recovery was not affected by β‐GPA or β‐GPA+CR in the soleus or any treatment in the EDL. Thus, peak tension recovery is enhanced by creatine intake in oxidative but not glycolytic muscles. This may be implicated in the beneficial action of creatine loading. Muscle Nerve 29: 428–435, 2004
Full publication of abstracts of randomised controlled trials published at International Continence Society meetings'
Authors: Herbison Peter 
Published: February 2004

AbstractAimsTo find out how many abstracts reporting randomised controlled trials (RCTs) that are submitted to scientific meetings of the International Continence Society (ICS) are later published in full, and any predictors of full publication.Materials and MethodsThe appropriate issues of “Neurourology and Urodynamics” and the Proceedings of the ICS for 1998 and 1999 were hand‐searched for the abstracts reporting RCTs. Bibliographic databases (Cochrane Controlled Trials Register, MEDLINE, EMBASE, Healthstar, Psychlit, CINAHL) were searched, using the authors' names, to find full publications. Authors were contacted when no full publication was found to check that all full publications had been found. This was repeated for 1987.ResultsSixty‐three abstracts reporting RCTs were found in 1998 and 1999. Twenty‐five of these (40%) were followed by full publication. The only characteristic that predicted full publication was the use of a no treatment control group. In 1987, 16 of 19 abstracts (84%) went on to be published in full.ConclusionsThe rate of full publication of abstracts reporting RCTs submitted to recent ICS meetings is low. It is lower than the rate of 56% found in other meetings. As it is widely regarded as unethical not to publish in full, ICS members should make every effort to write‐up studies for peer‐reviewed publication. Neurourol. Urodynam. 23:101–103, 2004. © 2004 Wiley‐Liss, Inc.
Expression of α and β parvalbumin is differentially regulated in the rat organ of corti during development
Authors: Yang D. , Thalmann I. , Thalmann R. , Simmons D. D. 
Published: February 2004

AbstractThe expression of two calcium‐binding proteins of the parvalbumin (PV) family, the α isoform (αPV) and the β isoform known as oncomodulin (OM), was investigated in the rat cochlea during postnatal development and related to cholinergic efferent innervation. Using RT‐PCR analysis, we found that OM expression begins between postnatal day 2 (P2) and P4, and peaks as early as P10, while αPV mRNA begins expression before birth and remains highly expressed into the adult period. Both in situ hybridization and immunoreactivity confirm that OM is uniquely expressed by the outer hair cells (OHCs) in the rat cochlea and occurs after efferent innervation along the cochlear spiral between P2 and P4. In contrast to OM expression, αPV immunoreactivity is expressed in both inner hair cells (IHCs) and OHCs at birth. Following olivocochlear efferent innervation, OHCs demonstrate weak OM immunoreactivity beginning at P5 and diminished αPV immunoreactivity after P10. In organ cultures isolated prior to the efferent innervation of OHCs, OM immunoreactivity failed to develop in OHCs, but αPV immunoreactivity remained present in both IHCs and OHCs. In contrast, organ cultures isolated after efferent innervation of OHCs show OHCs with low levels of OM immunoreactivity and high levels of αPV immunoreactivity. This study suggests that OM and αPV are differentially regulated in OHCs during cochlear development. Our findings further raise the possibility that the expression of PV proteins in OHCs may be influenced by efferent innervation. © 2003 Wiley Periodicals, Inc. J Neurobiol 58: 479–492, 2004