bluuebunny/crossref_metadata_2025_split huggingface dataset:
Citrate‐Induced impairment of neuromuscular transmission in human and experimental autoimmune myasthenia gravis
Authors: Wirguin I. , Brenner T. , Shinar E. , Argov Z. 
Published: January 2005

AbstractTwo patients who underwent plamsapheresis for severe myasthenia gravis showed marked exacerbation of myasthenic weakness at the end of exchange sessions, in which citrate was used for anticoagulation. In one patient, improvement occurred after the administration of calcium but not after edrophonium. In rabbits and in rats with experimental autoimmune myasthenia gravis, decremental muscle response to 3 Hz repetitive nerve stimulation worsened significantly after injection of the citrate anticoagulant. The worsened neuromuscular transmission defect was reversed by the administration of calcium. When used for anticoagulation, citrate reduces serum ionized calcium levels and thus may aggravate myasthenic weakness and endanger patients during or immediately after plasmapheresis.
Skin biopsy findings in glycogenosis III: Clinical, biochemical, and electrophysiological correlations
Authors: Sancho Sara , Navarro Carmen , Fernández José M. , Domínguez Carmen , Ortega Arantxa , Roig Manuel , Cervera Carlos 
Published: January 2005

AbstractElectron microscopy of skin specimens was performed in 4 patients (age range, 7 months–40 years) with glycogenosis III and revealed consistent abnormalities. Massive glycogen storage was observed in epithelial secretory cells of eccrine sweat glands and, less markedly, in smooth muscle fibers from the erector pili. Other cells, including Schwann cells of myelinated and unmyelinated fibers, were not affected. The extent of glycogen storage was similar in all patients and unrelated to age or duration of disease. The extralysosomal nature and selectivity of glycogen deposits, sparing fibroblasts and other cells, differ clearly from the findings in skin from patients with glycogenosis II. The purpose of this study was to show that glycogen deposits in glycogenosis III are not restricted to skeletal muscle and liver, and to assess the usefulness of skin biopsy in this disorder.
L‐Dopa pharmacokinetics in plasma and cisternal and lumbar cerebrospinal fluid of monkeys
Authors: Hammerstad John P. , Woodward William R. , Gliessman Perry , Boucher Brain , Nutt John G. 
Published: January 2005

AbstractThe pharmacokinetics of levodopa (L‐dopa) in plasma and in cisternal and lumbar cerebrospinal fluid (CSF) were studied in Rhesus monkeys that were given 2‐ to 3‐hour intravenous infusions of L‐dopa. Steady‐state L‐dopa concentrations in cisternal CSF correlated well with plasma levels, and yielded a CSF: plasma ratio of 0.17. The disappearance of L‐dopa from plasma and cisternal CSF compartments fits an open, two‐compartment pharmacokinetic model. Although slower, the distribution and elimination half‐lives for L‐dopa from cisternal CSF (8.9 and 49.2 minutes, respectively) were of a similar magnitude to those from plasma (4.9 and 33.2 minutes, respectively). If cisternal CSF reflects brain extracellular fluid, then plasma pharmacokinetics of L‐dopa are a reasonable approximation of those in the brain. In contrast to cisternal CSF, the disappearance of L‐dopa from lumbar CSF fits an open, one‐compartment model with an elimination half‐life of 100 minutes. This indicates that the lumbar CSF compartment is unsuitable for investigation of the pharmacokinetics of L‐dopa in the brain.
Receptor alterations associated with spinal motoneuron degeneration in Bovine Akabane disease
Authors: Gundlach Andrew L. , Grabara Corrine S. G. , Johnston Graham A. R. , Harper Peter A. W. 
Published: January 2005

AbstractAkabane disease in cattle is characterized by congenital abnormalities including arthrogryposis, which is characterized by a depletion of spinal ventral horn motoneurons, a loss of axons, and depletion of myelin in the lateral and ventral tracts. These neuropathological changes produced major reductions (70–80%) in the density of muscarinic cholinergic, glycine/strychnine, and central‐type benzodiazepine receptors in the ventral horn motor nuclei. The density of peripheral‐type benzodiazepine receptors and adenosine A1 receptors was dramatically increased (250–300%) in the lateral and ventral spinal columns, reflecting the proliferation of glial cells. Bovine Akabane disease represents a useful model for assessing the processes and consequences of neuronal degeneration and demyelination and has implications for human diseases such as amyotrophic lateral sclerosis.
Diagnosis of Maryland/German familial amyloidotic polyneuropathy using allele‐specific, enzymatically amplified, genomic DNA
Authors: Mendell Jerry R. , Jiang Xin‐Sheng , Warmolts John R. , Nichols William C. , Benson Merrill D. 
Published: January 2005

AbstractDiagnoses of familial amyloidotic polyneuropathies have been traditionally based on attempts to distinguish clinical features and ancestry or geographic origin of cases. Most are associated with extracellular deposition of a variant prealbumin (also known as transthyretin). Recent molecular studies demonstrated eight distinct amyloid‐associated point mutations in the prealbumin gene on the long arm of chromosome 18 that are associated with hereditary amyloidosis. These findings provide for means of diagnosis using recombinant DNA methods. In a family with the Maryland/German type of familial amyloidotic polyneuropathy, the proband and 2 of 5 at‐risk offspring were diagnosed using the polymerase chain reaction. Allele‐specific enzymatic amplification of genomic DNA demonstrated the histidine‐58 variant prealbumin gene. This study confirms the point mutation of the prealbumin gene as a cause for this type of familial amyloidotic polyneuropathy. Preclinical diagnosis illustrates the potential for development of treatment strategies prior to disease onset.
Single skinned muscle fibers in duchenne muscular dystrophy generate normal force
Authors: Horowits Robert , Dalakas Marinos C. , Podolsky Richard J. 
Published: January 2005

AbstractWe measured the intrinsic mechanical properties and protein content of single skinned muscle fibers obtained from patients who had Duchenne muscular dystrophy. To check for possible nonspecific changes caused by muscle disease per se, we also studied the properties of muscle fibers obtained from patients exhibiting severe muscle weakness due to polymyositis. Relative to control fibers obtained from 4 patients with normal or nonmyopathic muscle, we found no significant change in the ability of muscle fibers from the patients with Duchenne muscular dystrophy or polymyositis to generate active tension in response to calcium or resting tension in response to stretch. In addition, we found no significant changes in the concentrations of the major contractile proteins myosin and actin, of the elastic protein titin, or of the structural proteins nebulin and α‐actinin. In contrast, immunocytochemical studies showed that dystrophin was absent in the biopsy specimens from the patients with Duchenne muscular dystrophy, but localized at the cell membrane in all of the other muscle biopsy specimens used in this study. These results indicate that myofibrils assemble and function normally in Duchenne muscular dystrophy. Therefore, the absence of dystrophin, which is the primary biochemical defect in this disease, leads to clinical weakness by causing the breakdown of muscle fibers that were once capable of generating normal force, while the surviving fibers exhibit normal contractility.
Cellular immunoregulatory mechanisms in the central nervous system: Characterization of noninflammatory and inflammatory cerebrospinal fluid lymphocytes
Authors: Matsui Makoto , Mori Kazuhiro J. , Saida Takahiko 
Published: January 2005

AbstractDual‐label flow cytometric analysis of cerebrospinal fluid (CSF) and blood lymphocytes with combinations of monoclonal antibodies such as CD4 plus CD45R or Leu8, and CD8 plus CD11b was performed in 37 patients with noninflammatory neurological disease (NINDs) to clarify the differences in cellular immunoregulatory mechanisms present in the central nervous system (CNS) and in the systemic circulation. In the CSF of patients with NINDs, the paucity of CD4+CD45R+ and CD8+CD11b+ cells was striking, whereas the same subsets accounted for substantial proportions in the blood. CD4+CD45R− and CD4+Leu8− cells as well as CD8+CD11b− cells increased in the CSF when compared with those in the blood. Seven patients with active multiple sclerosis (MS) and 10 patients with other inflammatory diseases in the CNS(CNS‐infl) were also studied. Patients with active MS were characterized by a consistent increase in percentage of CD4+CD45R− cells in the CSF, whereas an increase of CD4−CD45R+ cells in the CSF was a feature of the patients with CNS‐infl, when compared with patients with NINDs. These findings indicate that the CNS is routinely surveyed by particular subsets of lymphocytes different from those in the blood, and cellular immune reaction in the CNS varies according to the types of CNS inflammatory conditions.
Epileptic nystagmus
Authors: Furman Joseph M. R. , Crumrine Patricia K. , Reinmuth Oscar M. 
Published: January 2005

AbstractWe report a 52‐year‐old woman with episodes of vertigo accompanied by right beating nystagmus and left posterior temporoparietal sharp waves and spikes on electroencephalogram without change in level of consciousness. Electrooculography demonstrated that the episodes of nystagmus were not preceded by gaze deviation and that nystagmus slow component velocities were linear. This patient's epileptic nystagmus may have been the result of excitation of cerebral ocular pursuit pathways.
The accuracy of bedside neurological diagnoses
Authors: Chimowitz Marc I. , Logigian Eric L. , Caplan Louis R. 
Published: January 2005

AbstractThe accuracy of bedside diagnoses was propectively studied in 100 consecutive patients admitted to the neurology service at New England Medical Center, Boston. Each patients was evaluated independently by a junior resident, a senior resident, and a staff neurologist, who were required to make an anatomical and etiological diagnosis based solely on the history and physical examination. Fourteen patients were excluded because their diagnoses were known before admission. Of the remaining 86 patients, it was possible to confirm anatomical and etiological diagnoses in 40 by matching the clinical syndromes with highly specific laboratory findings. In other 46 patients, the diagnoses could not be confirmed because the laboratory studies (including magnetic resonance imaging) were negative or nondiagnostic. In the 40 patients with laboratory confirmed final diagnoses, the clinical diagnoses of the junior residents, senior residents, and staff neurologists were correct in 26 (65%), 30 (75%), and 31 (77%), respectively. There was a trend for error rates to be higher among junior residents than staff (p = 0.06). The errors by the junior residents,[senior residents], (staff) were attributed to incomplete history and examination in 4 [1] (0), inadequate fund of knowledge in 4 [3] (3), and poor diagnostic reasoning in 6 [6] (6). These results indicate that technology is not a panacea for our diagnostic difficulties and that there is room for improvement in our clinical skills, especially diagnostic reasoning.
Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies
Authors: Zeviani M. , Gallera C. , Pannacci M. , Uziel G. , Prelle A. , Servidei S. , DiDonato S. 
Published: January 2005

AbstractBy using a combination of Southern blot hybridization analysis, polymerase–chain reaction amplification, and direct nucleotide sequencing, we studied deletions of mitochondrial DNA (mtDNA) in several nonfamilial patients with progressive external ophthalmoplegia and Kearns‐Sayre syndrome, and in some of their direct relatives. Results suggest that the heteroplasmic mtDNA populations are already present at a very early stage of development, and that there is no direct transmission of mtDNA heteroplasmy by maternal inheritance.
Positron emission tomography in Shy‐Drager syndrome
Authors: Bhatt Mohit H. , Snow Barry J. , Martin W. R. Wayne , RN Sandra Cooper , Calne Donald B. 
Published: January 2005

AbstractWe studied the nigrostriatal dopaminergic pathway in 3 patients with Shy‐Drager syndrome, by using positron emission tomography and [18F]6‐fluoro‐1‐dopa to determine whether their parkinsonism correlated with impaired functional integrity of the presynaptic nigrostriatal pathway. One patient had short duration of disease, mild parkinsonism, and a normal positron emission tomographic scan, suggesting pathological changes functionally distal to the nigrostriatal pathway. Two patients with longer duration of disease had more severe parkinsonism and reduced [18F]6‐fluoro‐1‐dopa uptake, suggesting impaired nigrostriatal dopaminergic function with progression of Shy‐Drager syndrome.
Rhinocerebral mucormycosis: Management and survival after carotid occlusion
Authors: Galetta Steven L. , Wulc Allan E. , Goldberg Herbert I. , Nichols Charles W. , Glaser Joel S. 
Published: January 2005

AbstractRhinocerebral mucormycosis is a rare but often fatal fungal infection. We present 2 patients with mucormycosis complicated by internal carotid artery thrombosis. Magnetic resonance imaging was superior to computed tomography in localizing the pathological process. Subtotal resection of devitalized tissue and intravenous amphotericin B therapy resulted in a successful outcome for both patients. Prompt recognition of this disorder by using modern diagnostic and therapeutic modalities promises to improve survival rates.
Cerebral circulation and oxygen metabolism associated with subclinical periventricular hyperintensity as shown by magnetic resonance imaging
Authors: Meguro Kenichi , Hatazawa Jun , Yamaguchi Tatsuo , Itoh Masatoshi , Matsuzawa Taiju , Ono Shuichi , Miyazawa Hidemitsu , Hishinuma Takashi , Yanai Kazuhiko , Sekita Yasuyoshi , Yamada Kenji 
Published: January 2005

AbstractA combined magnetic resonance imaging and positron emission tomography study was performed on 21 patients with cerebrovascular risk factors but without neurological abnormalities. Our purpose was to investigate the hypothesis that periventricular hyperintensity (PVH) reflects ischemia. Periventricular hyperintensity was evaluated with a method we devised, and cerebral circulation and oxygen metabolism were evaluated with the oxygen‐15 steady‐state technique. We concluded that the brain with severe periventricular hyperintensity had abnormal circulation, although oxygen metabolism was not measurably affected. The role of a compensation mechanism under conditions of decreased oxygen supply was considered.
Cerebellar and frontal hypometabolism in alcoholic cerebellar degeneration studied with positron emission tomography
Authors: Gilman Sid , Adams Kenneth , Koeppe Robert A. , Berent Stanley , Kluin Karen J. , Modell Jack G. , Kroll Phillip , Brunberg James A. 
Published: January 2005

AbstractLocal cerebral metabolic rate for glucose was studied utilizing 18F‐2‐fluoro‐2‐deoxy‐D‐glucose and positron emission tomography (PET) in 14 chronically alcohol‐dependent patients and 8 normal control subjects of similar age and sex. Nine of the 14 patients (Group A) had clinical signs of alcoholic cerebellar degeneration, and the remaining 5 (Group B) did not have signs of alcoholic cerebellar degeneration. PET studies of Group A revealed significantly decreased local cerebral metabolic rates for glucose in the superior cerebellar vermis in comparison with the normal control subjects. Group B did not show decreased rates in the cerebellum. Both Groups A and B showed decreased local cerebral metabolic rates for glucose bilaterally in the medial frontal area of the cerebral cortex in comparison with the normal control subjects. The severity of the clinical neurological impairment was significantly correlated with the degree of hypometabolism in both the superior cerebellar vermis and the medial frontal region of the cerebral cortex. The degree of atrophy detected in computed tomography scans was significantly correlated with local cerebral metabolic rates in the medial frontal area of the cerebral cortex, but not in the cerebellum. The data indicate that hypometabolism in the superior cerebellar vermis closely follows clinical symptomatology in patients with alcoholic cerebellar degeneration, and does not occur in alcohol‐dependent patients without clinical evidence of cerebellar dysfunction. Hypometabolism in the medial frontal region of the cerebral cortex is a prominent finding in alcohol‐dependent patients with or without alcoholic cerebellar degeneration.
Selective reduction of quisqualate (AMPA) receptors in Alzheimer cerebellum
Authors: Dewar D. , Chalmers D. T. , Shand A. , Graham D. I. , McCulloch J. 
Published: January 2005

AbstractMultiple sites involved in glutamatergic neurotransmission were examined in the cerebellar cortex of 6 patients with Alzheimer's disease and 6 age‐matched control patients by using quantitative ligand‐binding autoradiography. Quisqualate (AMPA) receptor binding was markedly reduced in the molecular layer of the cerebellum from patients with Alzheimer's disease (167 ± 13 pmoles/gm) compared with control patients (280 ± 13 pmoles/gm). In adjacent sections from the same patients and controls, there was preservation of kainate and N‐methyl‐D‐aspartate receptor binding in the cerebellum from patients with Alzheimer's disease compared with control patients. Neuropathological examination of the cerebellar cortex revealed the presence of plaques and preservation of Purkinje cells in the patients with Alzheimer's disease.
Genetic cause of a juvenile form of tay‐sachs disease in a lebanese child
Authors: Boustany Rose‐Mary N. , Tanaka Akemi , Nishimoto Junji , Suzuki Kunihiko 
Published: January 2005

AbstractAbnormality in the β‐hexosaminidase α gene underlying the clinical phenotype of a Lebanese patient with a juvenile form of Tay‐Sachs disease has been studied. Clinical features were progressive spasticity, ataxia, and cognitive decline. The protein coding sequence of several β‐hexosaminidase α‐chain complementary DNAs isolated by polymerase chain reaction was completely normal except for a G‐to‐A transition at nucleotide position 1511 within exon 13, which resulted in substitution of the normal arginine 504 (CGC) with histidine (CAC). Although the patient was from a first‐cousin marriage, she was heterozygous for this mutation. The abnormality in the other allele, which is carried by the father, was not identified, except that it is neither of the two mutations responsible for the infantile Jewish Tay‐Sachs disease. Biosynthetic and immunoprecipitation studies in cultured fibroblasts showed synthesis of the α‐chain precursor, but the mature form of the α‐subunit was not detected.
HLA class II antigens and DNA restriction fragment length polymorphism in myasthenia gravis in japan
Authors: Morita Kazuyuki , Moriuchi Junko , Inoko Hidetoshi , Tsuji Kimiyoshi , Arimori Shigeru 
Published: January 2005

AbstractHuman leukocyte phenotypes and genes in the HLA class II regions were studied in 46 Japanese patients with myasthenia gravis. When the HLA phenotypes of the patients with myasthenia gravis were compared with the controls, an increased frequency of HLA‐DRw53 was observed in females less than 30 years of age. The genomic DNAs of the HLA‐DRw53‐positive patients and DRw53‐positive controls were analyzed by using four complementary DNA probes for HLA class II genes. With DQB complementary DNA as the probe, a higher incidence of the 6.5‐kb or 8.2‐kb BamHI fragment was observed in the patients (76.0%) compared with the controls (19.0%). In contrast, no significant difference was observed between patients and controls when complementary DNAs for DRB, DQA, and DPB were used as probes. These results indicate that the genetic background of Japanese females with early‐onset myasthenia gravis is different from other patients with myasthenia gravis, and that DQB genes can greatly influence the onset of myasthenia gravis.
Effects of head trauma from motor vehicle accidents on Parkinson's disease
Authors: Goetz Christopher G. , Stebbins Glenn T. 
Published: January 2005

AbstractDuring 1 year we monitored changes in clinical disability scores in 10 patients with Parkinson's disease (PD) who sustained head trauma from motor vehicle accidents. Disability significantly increased immediately after trauma, but returned to baseline levels in subsequent weeks. These patients' signs deteriorated over the subsequent year, but this decline was equivalent to that of a matched control group with PD who did not have a motor vehicle accident or trauma. Based on these data, we conclude that trauma or stress caused by motor vehicle accidents can transiently exacerbate parkinsonian dysfunction without causing persistent increased disability or an alteration in disease course.
Intracerebral hemorrhage related to cerebral amyloid angiopathy and T‐PA treatment
Authors: Pendlebury William W. , Iole Elizabeth D. , Tracy Russell P. , Dill Ba Barbara A. 
Published: January 2005

AbstractTissue plasminogen activator (t‐PA) has been approved as thrombolytic therapy for the treatment of acute myocardial infarction, but this agent can cause serious bleeding complications including intracerebral hemorrhages. Mechanisms underlying the development of these hemorrhages have not been clarified. We report a patient who developed two intracerebral hemorrhages shortly after receiving t‐PA for the treatment of an acute myocardial infarction, and who was found to have cerebral amyloid angiopathy a autopsy. Staining of cortical sections with Congo red and an antibody directed against beta amyloid protein (A4 peptide) disclosed specific involvement of most of the subarachnoid and superficial cortical vessels in the region of the two hemorrhages. Based on the findings in this patient and in 6 additional patients reported recently, it is likely that cerebral amyloid angiopathy plays a pathogenic role in some intracerebral hemorrhages associated with the administration of t‐PA. The cautious use of t‐PA with heparin in patients who are elderly or demented may be advisable.
Cerebrospinal fluid dynamics in the tardive cauda equina syndrome of ankylosing spondylitis
Authors: Confavreux Christian , Larbre Jean‐Paul , Lejeune Edouard , Sindou Marc , Aimard Gilbert 
Published: January 2005

AbstractTypical cauda equina syndrome secondary to long‐standing ankylosing spondylitis is reported in a 63‐yerar‐old man. Radionuclide cisternography demonstrated a resorption defect of cerebrospinal fluid in the enlarged lumbosacral dural sac. After transient symptomatic improvement with acetazolamide, a lumboperitoneal shunt was placed. The rate of cerebrospinal fluid, isotope resorption became normal. In the 5 years of follow‐up, partial remission has been observed.