bluuebunny/crossref_metadata_2025_split huggingface dataset:
Biochemical and genetic characterization of type I familial amyloidotic polyneuropathy
Authors: Nakazato Masamitsu , Sasaki Hiroyuki , Furuya Hirokazu , Sakaki Yoshiyuki , Kurihara Teruyuki , Matsukura Shigeru , Kangawa Kenji , Matsuo Hisayuki 
Published: January 2005

AbstractType I familial amyloidotic polyneuropathy is an autosomal dominant, inherited systemic amyloidosis characterized initially by dissociated sensory disturbance and autonomic dysfunction. The amyloid fibril protein seen in patients of Portuguese, Japanese, and Swedish descent in the U.S. mainly consists of a variant form of transthyretin (also called prealbumin) with the substitution of methionine for valine at position 30. Methods have been developed to detect this variant transthyretin in the serum, and to detect a base change in a mutated transthyretin gene. The biochemical and genetic abnormalities in transthyretin are completely linked to the clinical diagnosis of type I familial amylodotic polyneuropathy. These diagnostic methods may allow early diagnosis and genetic counseling to avoid transmission of this intractable disorder to the next generation.
Symptomatic atlantoaxial dislocation in Down's syndrome
Authors: Chaudhry Vinay , Sturgeon Carol , Gates A. Joanne , Myers Gary 
Published: January 2005

AbstractFour patients with Down's syndrome suffered compression of the spinal cord secondary to atlantoaxial dislocation. All four developed inability to walk and quadriparesis, with signs of cervical myelopathy. It is important to recognize this potentially fatal complication of the syndrome. Immediate immobilization of the neck, followed by cervical roentgenograms, should be done in any patient with Down's syndrome who presents with neck pain, torticollis, urinary incontinence, or loss of ambulation. Surgical repair with fusion of the first and second cervical vertebrae can be carried out later.
Increased reactivity to HTLV‐I in inflammatory nervous system diseases
Authors: Lolli Francesco , Fredrikson Sten , Kam‐Hansen Slavenka , Link Hans 
Published: January 2005

AbstractThe presence of IgG antibodies reacting with purified and disrupted human T‐lymphotropic virus type I (HTLV‐I) was examined by an indirect enzyme‐linked immunosorbent assay (ELISA) in sera from 49 patients with multiple sclerosis (MS), 21 patients with aseptic meningoencephalitis (AM), 12 patients with Guillain‐Barré syndrome (GB), and 30 patients with tension headache (TH). This was also assessed in the concentrated cerebrospinal fluid (CSF) of most of these patients, as well as in sera of 60 blood donors (BD). Standardized amounts of serum IgG and CSF IgG were used in ELISA. For sera, higher reactivity with HTLV‐I was found in all four patient groups compared with the BD group, but no significant differences were observed among the four groups. There was higher reactivity with HTLV‐I in the CSF of patients with MS, AM, and GB compared to findings in patients with TH. Ten serum (2 MS, 3 GB, 3 TH, 2 BD) and 3 CSF (1 MS, 1 GB, 1 TH) specimens considered positive by ELISA for HTLV‐I were found negative on confirmatory Western blot analysis. We extended this study to analyze the in vitro production of anti‐HTLV‐I–IgG antibodies by the 24‐hour cultivation of unstimulated lymphocytes from peripheral blood and CSF of 6 additional patients with MS directly in HTLV‐I antigen–coated wells of microtiter plates. This was followed by determination of specific antibodies by ELISA in the same wells. No antibody production was measurable. Our data do not favor the hypothesis of an HTLV‐I–related human retrovirus in the etiology of MS.
Adult‐onset spinocerebellar syndrome with idiopathic vitamin E deficiency
Authors: Yokota Takanori , Wada Yoshiaki , Furukawa Tetsuo , Tsukagoshi Hiroshi , Uchihara Toshiki , Watabiki Sadakiyo 
Published: January 2005

AbstractA 62‐year‐old man and his maternal uncle had a selective vitamin E deficiency without generalized fat malabsorption. A progressive neurological disorder comprising ataxia, areflexia, and loss of proprioception developed in their sixth and seventh decades. The vitamin E deficiency is thought to be due to abnormally accelerated utilization, excretion, or degradation of the vitamin. This adult‐onset spinocerebellar syndrome is due to vitamin E deficiency not caused by malabsorption.
Platelet membrane abnormality in Alzheimer's disease
Authors: Zubenko George S. , Cohen Bruce M. , Boller Francois , Malinakova Ivana , Keefe Nanci , Chojnacki Bonnie 
Published: January 2005

AbstractFluorescence studies of membrane fluidity were conducted double‐blind using platelet and red cell membranes prepared from 24 demented patients with probable Alzheimer's disease and 36 neurologically healthy subjects. The fluidity of the hydrocarbon and lipid–aqueous interface regions of cell membranes was determined at 37°C by fluorescence spectroscopy using the lipid probes 1,6‐diphenyl‐1,3,5‐hexatriene (DPH) and 1‐[4‐(trimethylamino)phenyl]‐6‐phenyl‐1,3,5‐hexatriene (TMA‐DPH), respectively. The rotation rate of TMA‐DPH in labeled platelet membranes did not differ between the groups. In contrast, the rotation rate of DPH in labeled platelet membranes from the demented patients (2.15 ± 0.24 × 108/sec, SD) was greater than that for the normal controls (1.93 ± 0.13 × 108/sec, SD, p = 3.8 × 10−5). This difference was reflected by a reduction in the steady‐state anisotropy of DPH in labeled platelets from the demented group (0.1887 ± 0.0085, SD) when compared to the respective mean for the controls (0.2000 ± 0.0060, SD; p = 1.3 × 10−7). Abnormal membrane fluidity was significantly correlated with severity of dementia, but not with duration of illness or apparent age of onset. The findings do not support the hypothesis that Alzheimer's disease results from a pathological acceleration of the normal aging process, since normal aging is associated with Decemberreased fluidity of cell membranes from platelets, as well as from lymphocytes, hepatocytes, and neurons.
The effect of hyperosmotic blood—brain barrier disruption on blood‐to‐tissue transport in ENU‐induced gliomas
Authors: Warnke Peter C. , Blasberg Ronald G. , Groothuis Dennis R. 
Published: January 2005

AbstractHyperosmotic blood—brain barrier disruption transiently increases the rate of blood‐to‐tissue transport of water soluble compounds to normal brain and has been used in brain tumor patients to increase the delivery of chemotherapeutic drugs. This method remains controversial; debate concerns the extent to which it increases drug delivery to brain tumors. Ethylnitrosourea (ENU)‐induced gliomas in rats have the lowest rate of blood‐to‐tissue transfer of the water‐soluble compound alpha‐aminoisobutyric acid of all experimental brain tumor studied to date. To gain further understanding about the effect of hyperosomotic blood—brain barrier disruption in brain tumors, we measured the unidirectional blood‐to‐tissue transfer constant of alpha‐aminoisobutyric acid in ENU‐induced brain tumors in rats after hyperosmotic disruption. Hyperosmotic blood—brain barrier disruption with 1.6 osmolar mannitol resulted in an averaged whole‐tumor transfer constant of 0.013 ± 0.003 (standard error) mL/(g/min), compared to a transfer constant of 0.007 ± 0.002 mL/(g/min) for ENU‐induced gliomas in the contralateral undisrupted hemisphere, a difference that was not significant. In contrast, hyperosmotic blood—brain barrier disruption produced a large and significant increase in the transfer constant of alpha‐aminoisobutyric acid in tumor‐free cortex (from 0.002 ± 0.001 to 0.05 ± 0.011 mL/{g/min}) and in tumor‐free corpus callosum (from 0.001 ± 0.003 to 0.017 ± 0.005 mL/{g/min}). Hyperosmotic blood—brain barrier disruption does not appear to be an efficient method with which to increase the rate of delivery of water‐soluble drugs to brain tumors but does result in a significant increase in the delivery rate of these drugs to normal brain tissue.
Hippocampal neuron loss in temporal lobe epilepsy: Correlation with early childhood convulsions
Authors: Sagar H. J. , Oxbury J. M. 
Published: January 2005

AbstractHippocampal neuron densities in three areas (H1 zone, end folium, and dentate gyrus) were counted in each of 32 temporal lobectomy excision specimens using the technique of Mouritzen Dam. The association between severe neuronal loss in all three areas and early childhood convulsions that were prolonged and/or lateralized was highly significant. Lesser degrees of neuron loss in H1 and/or end folium were common and were not associated with early childhood convulsions, but were most often found in older patients with a particularly long history of epilepsy.
Localization of magnetic interictal discharges in temporal lobe epilepsy
Authors: Rose Douglas F. , Sato Susumu , Smith Paul D. , Porter Roger J. , Theodore William H. , Friauf Walter , Bonner Robert , Jabbari Bahman 
Published: January 2005

AbstractThree young adults with intractable complex partial seizures were studies by electroencephalography, magnetoencephalography, and electrocorticography. Interictal electroencephalographic (EEG) spikes for each patient were grouped according to their morphological characteristics and distribution across channels. Mapping of simultaneously recorded magnetoencephalographic signals produced dipolar patterns from which the three‐dimensional locations of equivalent current dipoles were calculated, whereas the mapping of EEG spikes showed single regions of electronegativity. The magnetic spikes were localized to the anterotemporal lobe, and the EEG spikes were localized somewhat anterior or posterior to the magnetic spikes. The magnetoencephalographic findings corresponded well with intraoperative electrocorticographic and depth‐electrode findings of discharging areas located over the lateral temporal lobe and on the basal and mesial surfaces of the temporal cortex.
Genetic heterogeneity in Duchenne Dystrophy
Authors: Hyser Craig L. , Province Michael , Griggs Robert C. , Mendell Jerry R. , Fenichel Gerald M. , Brooke Michael H. , Miller J. Philip , Polakowska Renata , Doherty Richard A. , Quirk Stephen ,   CIDD Group
Published: January 2005

AbstractWe evaluated 173 patients in the Clinical Investigation of Duchenne Dystrophy study to determine if patients from the same kindred were more alike clinically than patients within the study population as a whole. A high intrafamilial correlation was noted for age‐adjusted muscle strength scores. While noninherited factors could, in part, explain the results, it seems likely that genetic heterogeneity may contribute to the observed similarity within Duchenne dystrophy kindreds.
Seizures during barbiturate withdrawal: Relation to blood level
Authors: Theodore William H. , Porter Roger J. , Raubertas Richard F. 
Published: January 2005

AbstractWe studied 21 patients with complex partial seizures during phenobarbital (PB) or primidone withdrawal. Blood levels were measured daily, and seizure frequency was monitored by nursing staff and EEG‐video telemetry. Patients were monitored for one week of baseline and for five weeks after PB tapering was initiated (withdrawal). Most were observed for at least one week after levels were undetectable. When ranked seizure counts were averaged, there was a tendency for seizure rates to be highest as PB levels passed through the range 15 to 20 mg/l, compared with rates at higher or lower PB levels. There was little or no relation between the rate of PB withdrawal, other drug therapy, or initial PB level and the ratio of highest seizure frequency to mean seizure frequency. Patients withdrawing from PB may be most likely to experience an increase in seizure frequency when their PB blood level falls below 20 mg/l.
Basal forebrain—lesioned monkeys are severely impaired in tasks of association and recognition memory
Authors: Irle Eva , Markowitsch Hans J. 
Published: January 2005

AbstractSix squirrel monkeys received ibotenic acid–induced lesions targeted to the basal nucleus of Meynert (BNM). Postoperatively, the monkeys were trained in a broad spectrum of learning tasks and compared to normal and sham‐operated controls. The lesioned monkeys showed severe and enduring learning and memory deficits in a visual reversal task, several concurrent object discriminations, a delayed nonmatch‐to‐sample task, and, most outstanding, an angle threshold discrimination. Although in some of the monkeys the BNM was lesioned only partly with some surrounding tissue affected as well, the lesion of the BNM appears to be crucial in the large and apparently irreversible learning deficits of the monkeys. However, final proof for this suggestion is still needed.
Prospective nerve conduction studies in cisplatin therapy
Authors: Riggs Jack E. , Ashraf Mohammed , Snyder Robert D. , Gutmann Ludwig 
Published: January 2005

AbstractWe studied nerve conduction prospectively in 38 women receiving cisplatin for gynecological malignancies. Decreased sensory nerve action potential amplitudes and prolonged sensory latencies were the only significant changes identified. This prospective electrophysiological study validates the clinical observation of frequent sensory symptoms and occasional sensory neuropathies associated with cisplatin therapy.
Cortical somatostatin, neuropeptide Y, and NADPH diaphorase neurons: Normal anatomy and alterations in alzheimer's disease
Authors: Kowall Neil W. , Beal M. Flint 
Published: January 2005

AbstractSomatostatin and neuropeptide Y are two neuropeptides that are of particular in Alzheimer's disease because they are reported to be depleted in cerebral cortex. In the present study we examined somatostatin, neuropeptide Y, and nicotinamide adenine dinucleotide phosphate (NADPH) diaphorase neurons in nine cortical regions in both normal and Alzheimer's disease brains. These three neurochemical markers show a high degree of co‐localization (> 90%) in nonpyramidal neurons that are primarily distributed in cortical layers II‐III, V‐VI, and, most prominently, in infracortical white matter. The highest cell density was in temporal and parietal association cortex. The major morphological abnormality in Alzheimer's disease brains was a marked pruning and distortion of fiber plexuses with an apparent reduction in fiber density. In contrast, perikaryal density was preserved except for a reduction in parietal association cortex. Approximately 10 to 15% of senile plaques in the inferior temporal gyrus contained abnormal neurites. Additional abnormal collections of neurites without plaque cores were frequently found in layers II‐III and V‐VI. Neuropeptide Y and somatostatin were co‐localized in abnormal neurites, suggesting an origin from local intrinsic neurons in which the two peptides are co‐localized. Double immunofluorescence staining for both tau protein, a major antigenic component of paired helical filaments, and either somatostatin or neuropeptide Y showed that these neurons do not contain tau‐immunoreactive neurofibrillary tangles. The morphological correlate of reduced somatostatin and neuropeptide Y content in Alzheimer's disease brain therefore appears to be a distortion and reduction in fiber plexuses. In addition, it is apparent that these neurons can develop widespread morphological abnormalities in the absence of neurofibrillary tangle formation.
X‐Linked myopathy with excessive autophagy: A new hereditary muscle disease
Authors: Kalimo Hannu , Savontaus Marja‐Liisa , Lang Heikki , Paljärvi Leo , Sonninen Vesa , Dean Peter B. , Katevuo Kalevi , Salminen Antero 
Published: January 2005

AbstractWe report on 3 brothers with a myopathy that also affected their maternal grandfather and great‐uncle. Characteristic features are onset in early childhood, very slow progression, normal life expectancy, weakness of proximal limb muscles, especially in the legs, elevation of serum creatine kinase, and no cardiac or intellectual involvement. In biopsy material muscle fibers are almost never necrotic but show excessive autophagic activity and exocytosis of the phagocytosed material. We suggest that this family has an undescribed type of congenital myopathy, for which we propose the name X‐linked myopathy with excessive autophagy.
Striatal calcium channel antagonist receptors in huntington's disease and parkinson's disease
Authors: Watson Daniel L. , Carpenter Celia L. , Marks Shelley S. , Greenberg David A. 
Published: January 2005

AbstractThe density of calcium channel antagonist receptors labeled by (+)‐[3H]PN 200‐110 was reduced by 75% in striata from patients with Huntington's disease, but unchanged in patients with Parkinson's disease, compared with control subjects. These receptors are therefore likely to be localized to neurons with cell bodies in striatum, rather than nigrostriatal nerve terminals or glia, and their loss may contribute to the pathophysiology of basal ganglia disorders.
Plasmapheresis and guillain‐barré syndrome: Analysis of prognostic factors and the effect of plasmapheresis
Authors: McKhann G. M. , Griffin J. W. , Cornblath D. R. , Mellits E. D. , Fisher R. S. , Quaskey S. A. ,   The Guillain‐Barré Syndrome Study Group
Published: January 2005

AbstractThe time course of recovery in the Guillain‐Barré syndrome is known to vary widely, but factors associated with differences have not been previously defined. In this study we used multivariate analysis to identify such factors and to determine whether the presence or absence of specific factors would influence treatment decisions, particularly the use of plasmapheresis. Data from 245 patients randomized into conventional and plasmapheresis arms were used to assess the time to walk independently (Grade 2), the time to improve one grade, and the percentage improved at 4 weeks. Individually, many factors were associated with outcome. In the multivariate analysis, four factors correlate with poorer outcomes: mean amplitude of compound muscle action potential on stimulating distally of 20% of normal or less, older age, time from onset of disease of 7 days or less, and need for ventilatory support. The most powerful predictor of outcome was the abnormal mean amplitude of compound muscle action potential on stimulating distally. Plasmapheresis, the only variable the physician can influence, has a beneficial effect over and above any or all of these factors. The plasmapheresis patients on continuous flow machines had better outcomes than those on intermittent flow machines. From these data, tables of expected outcome probabilities have been developed.
Aphasia in senile dementia of the alzheimer type
Authors: Faber‐Langendoen Kathy , Morris John C. , Knesevich John W. , LaBarge Emily , Miller J. Philip , Berg Leonard 
Published: January 2005

AbstractWe assessed language function, using a brief clinical Aphasia Battery and psychometric measures, in 150 subjects with senile dementia of the Alzheimer type (SDAT) and 83 elderly controls. Aphasia occurred only in demented subjects, and its prevalence increased with severity of dementia. Aphasia in mildly demented subjects was associated with both an earlier age of onset and more rapid progression of SDAT than in similarly demented nonaphasics. Language dysfunction in SDAT subjects was characterized by early decline in measures of comprehension and written expression, whereas other components, including oral naming, were less profoundly affected. Performance on the verbal psychometric measures, the Sentence Repetition and the Token tests, correlated strongly with Aphasia Battery scores and declined only minimally in nonaphasics, despite increasing dementia. We conclude that aphasia is a common feature of SDAT subjects and identifies a subgroup with more rapid progression of dementia. Furthermore, it represents language‐specific dysfunction beyond the global cognitive impairment of SDAT.
The safety and angiographic efficacy of tissue plasminogen activator in a cerebral embolization model
Authors: Phillips David A. , Fisher Marc , Smith Thomas W. , Davis Michael A. 
Published: January 2005

AbstractThrombolysis with tissue plasminogen activator (tPA) has been used to treat myocardial infarction and pulmonary embolism in humans. This plasminogen activator may also be useful in treating certain strokes. We infused tPA or saline in rabbits 15 minutes after selective internal carotid artery embolization with 18‐hour aged autologous clot. By serial angiography, the tPA‐treated group demonstrated rapid angiographic reperfusion of the occluded vascular territory in 7 of 8 animals, whereas none of 6 saline controls did. None of the animals in either group developed macroscopic cerebral hemorrhage. Both groups showed cerebral infarction, predominantly in the territory of the occluded vessel; the extent of infarction did not differ between tPA‐treated animals and controls. Early tPA therapy can allow reperfusion of occluded cerebral arteries safely and effectively in a rabbit cerebral embolization model.
Sleep apnea in olivopontocerebellar degeneration: Treatment with trazodone
Authors: Salazar‐Grueso Edgar F. , Rosenberg Richard S. , Roos Raymond P. 
Published: January 2005

AbstractA 37‐year‐old man with a 19‐year history of progressive autosomal‐dominant olivopontocerebellar degeneration developed excessive daytime sleepiness and paroxysmal episodes that clinically resembled an ictal or postictal state. Polysomnography showed sleep apnea. Long‐term therapy with trazodone resulted in resolution of the paroxysmal episodes, disappearance of daytime sleepiness, and gradual improvement of sleep architecture over several months.
Cerebrospinal fluid pleocytosis following simple, complex partial, and generalized tonic‐clonic seizures
Authors: Devinsky Orrin , Nadi N. Suzan , Theodore William H. , Porter Roger J. 
Published: January 2005

AbstractWe observed postictal pleocytosis in 7 of 62 cerebrospinal fluid specimens obtained from 27 patients with epilepsy. Each patient had a known seizure disorder; none had any other cause for the pleocytosis. The maximum number of leukocytes was 12/mm3; the maximum number of erythrocytes was 190/mm3. Postictal pleocytosis was more common in samples obtained within 12 hours of the last seizure. Although previous studies have emphasized that pleocytosis is more common after repetitive generalized tonic‐clonic seizures, we found increased leukocyte counts in cerebrospinal fluid after single simple, complex partial, or generalized tonic‐clonic seizures.
Congenital odontoid aplasia and posterior circulation stroke in childhood
Authors: Phillips Peter C. , Lorentsen Kevin J. , Shropshire Lowry C. , Ahn Hyo S. 
Published: January 2005

AbstractHead trauma and vigorous physical activity were followed by delayed‐onset posterior circulation stroke in a 5‐year‐old boy with odontoid aplasia and C1‐C2 subluxation. Angiography demonstrated vertebral artery narrowing and occlusion of the left anterior‐inferior cerebellar and posterior cerebral arteries. Odontoid aplasia and other atlantoaxial dislocations are treatable causes of posterior circulation insufficiency in childhood; these defects may be overlooked without appropriate radiographic study of the cervical spine using flexionextension views.
Stroke associated with obstructive sleep apnea in a child with sickle cell anemia
Authors: Robertson Patricia L. , Aldrich Michael S. , Hanash Samir M. , Goldstein Gary W. 
Published: January 2005

AbstractWe describe a child with sickle cell anemia and multiple ischemic infarctions who was found to have severe obstructive sleep apnea and hypoxemia, secondary to adenotonsillar enlargement. The apnea‐associated hypoxemia likely contributed to the development of the strokes in this child. Moreover, because stroke in patients with sickle cell anemia, and maximal tonsillar enlargement (the most common cause of obstructive apnea in children) both have peak incidence at the same age (6–7 years), obstructive sleep apnea may be an important factor in the development of stroke in other children with sickle cell anemia.