bluuebunny/crossref_metadata_2025_split huggingface dataset:
Recurrent seizures in children with Shigella‐associated convulsions
Authors: Lahat E. , Katz Y. , Bistritzer T. , Eshel G. , Aladjem M. 
Published: January 2005

AbstractFifty‐five children with Shigella‐associated convulsions were followed prospectively to investigate their risk of subsequent febrile or nonfebrile seizures. The duration of the follow‐up period was between 6.9 and 14.1 years (9.7 ± 3.1 years). No case of nonfebrile seizures and only 2 cases (3%) of subsequent febrile seizures were observed during this period. We conclude that although febrile and Shigella‐associated convulsions share many clinical features, the natural history of these two conditions seems to be distinctly different. Shigella‐related convulsions are not associated with an increased incidence of subsequent febrile or nonfebrile convulsions.
Peripheral neuropathy associated with eosinophilia‐myalgia syndrome
Authors: Heiman‐Patterson T. D. , Bird S. J. , Parry G. J. , Varga J. , Shy M. E. , Culligan N. W. , Edelsohn L. , Tatarian G. T. , Heyes M. P. , Garcia C. A. , Tahmoush A. J. 
Published: January 2005

AbstractIn 1989, the Centers for Disease Control recognized the existence of an epidemic illness characterized by myalgia and eosinophilia in individuals taking preparations containing L‐tryptophan. We evaluated 3 patients with eosinophiliamyalgia syndrome who presented with subacute progressive neuropathies. The neuropathies were predominantly motor and maximal in the lower extremities. Two patients were confined to a wheelchair and one was ventilatordependent and bedridden. Sensory loss predominantly involved small fiber modalities. Electrophysiological studies showed multifocal marked conduction slowing and conduction block indicating segmental demyelination, with associated axonal degeneration that was accentuated distally. Examination of sural nerve biopsy specimens demonstrated axonal degeneration in all 3 patients and perivascular infiltrates in 2. Levels of quinolinic acid, a neurotoxic metabolite of L‐tryptophan, were elevated in the cerebrospinal fluid in the 2 patients in whom it was measured. The cause of the neuropathy is unknown but may include immune mechanisms or toxicity of eosinophils, L‐tryptophan, its metabolic products, or contaminants within L‐tryptophan preparations.
Adult phosphorylase b kinase deficiency
Authors: Clemens Paula R. , Yamamoto Masahiko , Engel Andrew G. 
Published: January 2005

AbstractPhosphorylase b kinase deficiency affecting muscle has been observed infrequently in children with weakness and hepatomegaly, and in 2 adults with cramps on exertion. We observed 2 additional adults with phosphorylase b kinase deficiency: Patient 1, aged 58, had progressive, predominantly distal weakness since age 46 but no cramps on exertion; Patient 2, aged 26, had cramps on exertion since age 6 but no weakness. Lactate production on ischemic exercise was impaired only in Patient 1. The serum creatine kinase level was elevated in both. Muscle specimens showed focal glycogen excess in both, and a necrotizing myopathy and mild denervation atrophy in Patient 1. Muscle phosphorylase b kinase activity was 0.5% and 8.9% of the lowest control value in Patients 1 and 2, respectively; erythrocyte phosphorylase b kinase activity was normal in both; liver phosphorylase b kinase activity, measured in Patient 1, was also normal. Other glycolytic enzymes in muscle were preserved in both.
Effect of digitals on clinical symptoms and conduction variables in patients with multiple sclerosis
Authors: Kaji Ryuji , Happel Leo , Sumner Austin J. 
Published: January 2005

AbstractDigitalis has been shown to reverse conduction block in demyelinated nerve fibers in experimental animals. In the search for a symptomatic treatment of multiple sclerosis, digoxin (0.02 mg per kilogram of body weight) was given intravenously to 7 patients with probable or clinically definite multiple sclerosis. All of these patients had temperature‐dependent symptoms. In 3 patients, improvement of clinical deficits was observed concurrent with significant changes in evoked potential findings. Digitalis derivatives may be useful in ameliorating symptoms in selected patients with multiple sclerosis.
Noninvasive detection of occlusive disease of the carotid siphon and middle cerebral artery
Authors: Ley‐Pozo Juan , Bernd Ringelstein Erich 
Published: January 2005

AbstractRecently, transcranial Doppler sonography has been introduced into clinical practice for noninvasive investigation of the large intracranial arteries. To determine its accuracy for detection of stenosing or occluding lesions, 133 consecutive patients were studied by both transcranial Doppler sonography and selective cerebral arteriography. Statistical analysis of findings was done separately for various arterial segments. High values for sensitivity and specificity were found for detecting obstruction of the carotid siphon and main stem of the middle cerebral artery. Diagnostic reliability of transcranial Doppler sonography was also confirmed by the calculation of a chance‐corrected measure of agreement (kappa), which was close to + 1 in all subanalyses. Transcranial Doppler sonography seems to be a valuable tool for noninvasive detection of intracranial lesions of the middle cerebral artery and carotid siphon.
Mild senile dementia of the Alzheimer type: 3. Longitudinal and cross‐sectional assessment
Authors: Berg Leonared , Smith Deborah S. , Morris John C. , Philip Miller J. , Rubin Eugene H. , Storandt Martha , Coben Lawrence A. 
Published: January 2005

AbstractSixty‐six subjects diagnosed by validated criteria as having senile dementia of the Alzheimer type (SDAT) were assessed with clinical measures commonly used to study dementia. The severity of the SDAT was mild in 24, moderate in 24, and severe in 18. The data from these three groups in a cross‐sectional study were compared with results in our earlier study of 43 subjects enrolled with mild SDAT and followed longitudinally. We concluded that the cross‐sectional method underestimates the severity of progression as indicated by some of the clinical measures. Additionally, the 24 new subjects with mild SDAT were assessed longitudinally. This replication study confirmed our earlier conclusions that four of six clinical measures showed similar patterns over time and were useful throughout the study, global measures being more informative than brief individual measures with ceiling or floor effects.
Absence of immunoreactive enzyme protewin in short‐chain acylcoenzyme a dehydrogenase deficiency
Authors: Farnsworth L. , Shepherd I. M. , Johnson M. A. , Bindoff L. A. , Turnbull D. M. 
Published: January 2005

AbstractDefects of short‐chain acylcoenzyme A dehydrogenase (SCAD) may cause a severe metabolic illness in children or a lipid storage myopathy in adults. The childhood form is associated with low enzyme activity, but the synthesis of a normal‐size enzyme protein in cultured skin fibroblasts. We report further biochemical studies on the original patient described with myopathic SCAD deficiency. We show an absence of enzyme protein in skeletal muscle, which both confirms the original diagnosis and suggests that the two forms of SCAD deficiency have a different molecular basis.
The glucose transporter and blood‐brain barrier of human brain tumors
Authors: Guerin Christopher , Laterra John , Hruban Ralph H. , Brem Henry , Drewes Lester R. , Goldstein Gary W. 
Published: January 2005

AbstractThe glucose transporter of the human brain has been localized to endothelial cells expressing the blood‐brain barrier, but little is known regarding its mechanism of induction or whether its expression is exclusively linked with restricted vascular permeability. We investigated glucose transporter expression by vessels in human astrocytic tumors and pulmonary metastases to the brain using immunohistochemical techniques. Vessels in 9 of 10 low‐grade astrocytomas and 8 of 10 anaplastic astrocytomas were positive for glucose transporter. Glioblastoma vessels were transporter‐positive in only 2 of 10 specimens. Vessels in all three metastatic tumors were negative for the glucose transporter. The decrease in transporter expression observed in higher‐grade tumors occurred independently of increases in vascular permeability. In low‐grade astrocytomas and glioblastomas transporter expression and contrast enhancement were inversely related, but vessels in 6 of 9 anaplastic astrocytomas were transporter‐positive despite contrast enhancement. These findings suggest that separate mechanisms induce the glucose transporter and the permeability restrictions of the human blood‐brain barrier. They also have potential implications for the therapy and prognosis of astroglial neoplasms.
Chemotherapy for medulloblastoma/primitive neuroectodermal tumors of the posterior fossa
Authors: Packer Roger J. 
Published: January 2005

AbstractChemotherapy has only marginal efficacy in adult malignant brain tumors. In contrast, drug therapy is considerably more effective in medulloblastoma/primitive neuroectodermal tumors (MB/PNET) of the posterior fossa, the most common childhood primary central nervous system tumor. At the time of disease recurrence, a variety of different single agents and drug combinations result in tumor shrinkage and increased survival. The addition of chemotherapy to standard radiotherapy improves the rate and length of disease‐free survival for those children with MB/PNET who have the most extensive tumors at diagnosis. It remains to be determined which drug or drug combinations are the most effective in MB/PNET, and which patients are most likely to benefit from chemotherapy. Chemotherapy may be useful to reduce or, in selected cases, obviate the need for radiotherapy and reduce treatment‐related sequelae.
Elevated alpha–tumor necrosis factor levels in spinal fluid from HIV‐1–infected patients with central nervous system involvement
Authors: Grimaldi L. M. E. , Martino G. V. , Franciotta D. M. , Brustia R. , Castagna A. , Pristerà R. , Lazzarin A. 
Published: January 2005

AbstractTo assess the role of alpha–tumor necrosis factor in the pathogenesis of central nervous system involvement during human immunodeficiency virus type 1 infection, we recorded clinical data and measured alpha–tumor necrosis factor levels in serum and cerebrospinal fluid samples from 45 patients infected with human immunodeficiency virus type 1, classified as group II/III (10), group IV A (5), group IV B (10), and group IV C‐1 (20) of the Centers of Disease Control acquired immunodeficiency syndrome classification system and 42 controls. Alpha–tumor necrosis factor was above the limit of detection in only 3 of 15 sera and 3 of 15 cerebrospinal fluid samples from patients in group II/III and group IV A, whereas it was detected in 17 of 30 sera (p < 0.05) and 22 of 30 cerebrospinal fluid (p < 0.0002) samples from clinically more advanced patients (group IV B and group IV C‐1). Alpha–tumor necrosis factor mean values were 21.5 pg/ml in sera and 50.0 pg/ml in cerebrospinal fluid from group IV B patients and 30.4 pg/ml in sera and 24 pg/ml in cerebrospinal fluid from group IV C‐1 patients. In 15 of 19 (79%) patients with human immunodeficiency virus type 1 encephalopathy (group IV B, 9 of 10 patients) and with opportunistic infections of the central nervous system (groupIV C‐1, 6 of 9 patients), alpha–tumor necrosis factor levels were more elevated in cerebrospinal fluid (mean value, 42 pg/ml) than in serum (mean value,20.7 pg/ml), whereas the opposite (p < 0.002) was found in 6 of 7 (86%) patients with systemic opportunistic infections not involving the central nervous system (serum mean value, 38.9 pg/ml vs. cerebrospinal fluid mean value, 15.0 pg/ml). No correlation was found between elevated alpha–tumor necrosis factor levels and clinical evidence of dementia or central nervous system demyelination. We conclude that intrathecal production of alpha–tumor necrosis factor occurs during central nervous system localization of human immunodeficiency virus type 1 infection. Alpha–tumor necrosis factor elevation seems to be related to active infection/inflammation. Measurement of cerebrospinal fluid alpha–tumor necrosis factor levels may thus represent a useful marker for ongoing central nervous system localization of human immunodeficiency virus type 1 infection.
Neuroanatomy of fragile X syndrome: The posterior fossa
Authors: Reiss Allan L. , Aylward Elizabeth , Freund Lisa S. , Joshi Paramjit K. , Bryan R. Nick 
Published: January 2005

AbstractThe occurrence and specificity of posterior fossa abnormalities as measured from magnetic resonance images of the brain were investigated in a group of 14 males with fragile X syndrome and comparison groups consisting of 17 males with other causes of developmental disability and 18 males with normal IQs. The size of the posterior cerebellar vermis was significantly decreased and the fourth ventricle significantly increased in the group of males with fragile X syndrome compared with males in both comparison groups. These neuroanatomical abnormalities appeared to be secondary to hypoplasia rather than atrophy.
Local cerebral glucose utilization in rats with petit mal–like seizures
Authors: Nehlig Astrid , Vergnes Marguerite , Marescaux Christian , Boyet Sylvette , Lannes Beatrice 
Published: January 2005

AbstractThe quantitative 2‐[14C]deoxyglucose autoradiographic method was applied to the measurement of local cerebral metabolic rates for glucose in a model of genetic petit mal–like seizures in a strain of Wistar rats. During the experimental period, epileptic rats exhibited synchronous spike‐and‐wave discharges recorded from the cerebral cortex, whereas the electroencephalographic pattern of control animals was normal. An overall consistent increase in local cerebral metabolic rates for glucose was observed in epileptic rats as compared to nonepileptic control rats. This increase was statistically significant in 52 of the 59 cerebral structures studied and concerned all cerebral functional systems. These results are in accordance with positron emission tomography measurements in humans with typical childhood absence epilepsy. There is a lack of anatomical correlation between areas demonstrating hypermetabolism and areas where spike‐and‐wave discharges are recorded. Thus, the diffuse increase in cerebral energy metabolism in epileptic rats as compared to controls is not directly related to the occurrence of spike and wave discharges.
Tests of EEG localization accuracy using implanted sources in the human brain
Authors: Cuffin B. Neil , Cohen David , Yunokuchi Kazutomo , Maniewski Roman , Purcell Christopher , Cosgrove G. Rees , Ives John , Kennedy John , Schomer Donald 
Published: January 2005

AbstractThe accuracy with which electrical sources in the brain can be localized by using electroencephalograms measured on the scalp is not well known. In this study, tests of localization accuracy were performed by using implanted dipolar sources in the human brain. These dipoles are created by passing a weak (subthreshold) current through intracerebral electrodes implanted in the brains of epileptic patients for seizure monitoring. The locations of these dipoles are accurately known from roentgenographs. First, 16 electroencephalograms produced by these dipoles were recorded, then inverse solutions were calculated for the apparent sources of these electroencephalograms. Finally, the locations of the apparent sources were compared with the known locations of the implanted dipoles to determine localization error. The average localization error for a total of 28 dipoles in 3 subjects was 1.1 cm. These results indicate that good localization accuracy for focal sources in the brain can be provided by scalp electroencephalograms.
Cortical dysplasia in temporal lobe epilepsy: Magnetic resonance imaging correlations
Authors: Kuzniecky Ruben , Garcia Julio H. , Faught Edward , Morawetz Richard B. 
Published: January 2005

AbstractCortical dysplasia has been documented in histological specimens surgically removed for treatment of refractory temporal lobe epilepsy. We studied 10 patients with cortical dysplasia and complex partial seizures who underwent temporal lobectomy. Magnetic resonance imaging revealed abnormalities in 5 of the patients who had microscopically detectable major abnormalities. Magnetic resonance imaging revealed an abnormal cortical‐white matter architectonic pattern in 2 patients with moderate cortical dysplasia. In the remaining 3 patients, magnetic resonance imaging findings were unremarkable. These observations suggest that magnetic resonance imaging is sensitive in the detection of certain dysplastic lesions in temporal lobe epilepsy. Preoperative identification of these abnormalities by magnetic resonance imaging may permit early and optimal surgical treatment in patients with refractory epilepsy.
Adult polyglucosan body disease: The diagnostic value of axilla skin biopsy
Authors: Busard H. L. S. M. , Gabreëls‐Festen A. A. W. M. , Renier W. O. , Gabreëls F. J. M. , Joosten E. M. G. , van't Hof M. A. , Rensing J. B. M. 
Published: January 2005

AbstractThe diagnostic value of axilla skin biopsy has been investigated in a patient with adult polyglucosan body disease. The biopsy data have been compared with those of control subjects and with those from previously reported patients with Lafora's disease. In a patient with adult polyglucosan body disease and in patients with Lafora's disease, an abundance of polyglucosan bodies was found in the myoepithelial cells of the axillary apocrine glands. In the control group of subjects, polyglucosan bodies were only sporadically seen. Axilla skin biopsy is, therefore, an easy and reliable method for confirming the diagnosis of adult polyglucosan body disease.
Cranial neuropathy associated with primary amyloidosis
Authors: Traynor Ann E. , Gertz Morie A. , Kyle Robert A. 
Published: January 2005

AbstractWe report 6 patients for whom cranial neuropathy was a major manifestation of primary amyloidosis. In 3 of the 6, multiple cranial nerves were involved. All had tissue biopsy documentation of amyloidosis. In 2, nerve biopsy also confirmed amyloidosis. All had renal involvement manifested by proteinuria. Primary systemic amyloidosis must be considered in the differential diagnosis of cranial neuropathy, especially when proteinuria is present.
Acetylcholine receptor—specific T‐Lymphocyte clones in the normal human immune repertoire: Target epitopes, hla restriction, and membrane phenotypes
Authors: Salvetti Marco , Jung Stefan , Chang Shau‐Feng , Will Hans , Schalke Berthold C. G. , Wekerle Hartmut 
Published: January 2005

AbstractPotentially autoimmune T‐lymphocyte lines specific for the nicotinic acetylcholine receptor of the neuromuscular junction have been isolated previously from patients with myasthenia gravis. We report on the isolation and expansion of T cells specific for the acetylcholine receptor of Torpedo californica or for a recombinant mammalian acetylcholine receptor alpha chain peptide (X4), from the peripheral blood of 11 healthy donors. Two major T‐cell epitopes, located between amino acid positions 44‐104 and 141‐172, were identified using a panel of overlapping mammalian alpha chain fusion proteins. Most T lines recognized the acetylcholine receptor epitopes in the molecular context of HLA‐DR molecules. Unexpectedly, all the T. californica acetylcholine receptor‐specific T lines obtained from one DR4 (DRw53), DQw3 donor and two DR4, w8 (DRw53), DQw3 donors were restricted by DRw53 product(s). Using DR gene‐transfected L cells as antigen presenters, in 4 lines, a close relationship between the recognized epitope and the restricting DR element was revealed. The membrane phenotype of the T. californica acetylcholine receptor‐and X4‐specific T lines was predominantly CD4+CD8−, with some CD4+CD8+ components. It did not significantly differ from that of control, tuberculin purified protein derivate‐specific T lines raised from the same donors. These findings are in harmony with previous ones demonstrating the presence of potentially autoimmune T‐lymphocyte clones within normal immune repertoires.
Temporal relationships between plasma and cerebrospinal fluid pharmacokinetics of levodopa and clinical effect in Parkinson's disease
Authors: Olanow C. W. , Gauger L. L. , Cedarbaum J. M. 
Published: January 2005

AbstractWe studied the pharmacokinetics of levodopa and its metabolites in plasma and ventricular cerebrospinal fluid in 4 parkinsonian patients with indwelling Ommaya reservoirs placed at the time of previous adrenalmedullary to caudate nucleus transplantation. Cerebrospinal fluid levodopa levels were 11.9% of those in plasma. Motor performance and dyskinesia correlated more closely with the time course of the appearance of levodopa in the ventricular cerebrospinal fluid than with the plasma levodopa concentration and did not correlate with plasma 3‐O‐methyldopa or cerebrospinal fluid 3‐O‐methyldopa or homovanillic acid. Our data confirm that the wearing off of the levodopa effect in patients with advanced Parkinson's disease is a function of drug concentration in the central nervous system.
Deletion of mitochondrial DNA in patients with combined features of kearns‐sayre and MELAS syndromes
Authors: Zupanc Mary L. , Moraes Carlos T. , Shanske Sara , Langman Craig B. , Ciafaloni Emma , DiMauro Salvatore 
Published: January 2005

AbstractA 9‐year‐old girl and an 11‐year‐old boy had ptosis, progressive external ophthalmoplegia, pigmentary retinopathy, and sensorineural hearing loss. The girl had diabetes mellitus and the boy had hypoparathyroidism. Both children also developed recurrent vomiting and cerebral infarcts with lactic acidosis. Muscle biopsy specimens showed ragged‐red fibers and Southern analysis demonstrated a distinct heteropolasmic deletion of muscle mitochondrial DNA in each patient but no evidence of the point mutation in the transfer RNALeu(UUR) generecently identified in mitochondrial encephalomyopathy, lactic acidosis, and stroke‐like episodes (MELAS). These 2 children had combined features of Kearns‐Sayre syndrome and MELAS, suggesting that mitochondrial DNA deletions occasionally can have pleomorphic clinical expression.
Presynaptic and postsynaptic striatal dopaminergic function in neuroacanthocytosis: A positron emission tomographic study
Authors: Brooks D. J. , Ibanez V. , Playford E. D. , Sawle G. V. , Leigh P. N. , Kocen R. S. , Harding A. E. , Marchsden C. D. 
Published: January 2005

AbstractUsing [18F]dopa, [11C]raclopride, C15O2, and positron emission tomography, we have assessed striatal dopamine storage capacity, dopamine D2‐receptor integrity, and regional cerebral blood flow, respectively, of 6 patients with neuroacanthocytosis. The patients with neuroacanthocytosis all had chorea and variable combinations of seizures, dementia, axonal neuropathy, and orolingual self‐mutilation. [18F]dopa positron emission tomographic findings were compared with 30 normal controls and 16 patients with sporadic, L‐dopa‐responsive, Parkinson's disease. Caudate and anterior putamen [18F]dopa uptake were normal in patients with neuroacanthocytosis, but mean posterior putamen [18F]dopa uptake was reduced to 42% of normal, similar to that in patients with Parkinson's disease. In patients with neuroacanthocytosis, mean equilibrium caudate: cerebellum and putamen: cerebellum [11C]raclopride uptake ratios were reduced to 54% and 62% of normal, compatible with a 65% and 53% loss of caudate and putamen D2‐receptor‐binding sites, respectively. Striatal and frontal blood flow was also depressed. The severe loss of D2‐receptor‐bearing striatal neurons, with concomitant loss of dopaminergic projections from the nigra to the posterior putamen, is consistent with both chorea and extrapyramidal rigidity being features of patients with neuroacanthocytosis.