bluuebunny/crossref_metadata_2025_split huggingface dataset:
Pathological findings underlying focal temporal lobe hypometabolism in partial epilepsy
Authors: Engel Jerome , Brown W. Jaan , Kuhl David E. , Phelps Michael E. , Mazziotta John C. , Crandall Paul H. 
Published: January 2005

AbstractHistopthogical studies were carried out on temporal lobe tissue from 25 patients with partial complex seizures who were studied by interictal positen computed tomography (PCT) with 18F‐fluorodeoxyglucose and subsequently underwenty anterior lobe resection. Abnormalities were identified on x‐ray computed tomographic scane in 7 patients, but none indicated the site of a pathologically confirmed structural lesion. Hypometabolic zones were observed on PCT scans of 22 patients and corresponded to focal pathological abnormalities in 19 (15 mesial temporal sclerosis, 2 small neoplasms, 1 angioma, 1 heterotopia). In 1 patient with a foclly abnormal PCT scan and no pathological changes, the lesion may have been located posterior to the resection. In the remaining 2 patients, the hypometabolic zones later disappeared and may have represented a transient response reponse induced by depth electrode implantation. Three patients with normal PCT scans had no pathological abnormalities in their resected tissue. The degree of relative hypometabolism measured by PCT correlated well with the severity of the pathological lesion, byt the size of the hypometabolic zone was generally much larger than the area of pathological involvement. This discrepancy could not be considered an artifact of techique and muist represent either structural abnormalities below the resolution of routine histopathological studies (e.g., loss of synapses) or functional incativation of neuronal elements associated with the epileptogenic lesion.
Abnormal brainstem auditory evoked potentials in chronic paint sniffers
Authors: Metrick Scott A. , Brenner Richard P. 
Published: January 2005

AbstractTwo young adults developed neurological disorders consisting of cerebellar dysfunction, optic neuropathy, and dementia secondary to chronic inhalation of spray paint (toluene). Computed tomographic brain scans showed pontomedullary atrophy. Both patients had abnormal brainstem auditory evoked potentials. Although chronic toluene abuse can cause various neurological abnormalities, until now there has been little evidence that the brainstem can also be affected.
Self‐grasping: A focal neurological sign
Authors: Ropper Allan H. 
Published: January 2005

AbstractA physical sign is described in patients with typical bilateral grasp responses, whereby one hand graps the contralateral forearm (self‐grasping). Of 37 patients with strong bilateral grasp responses, unilateral self‐grasping occurred in 8; of these 8 patients, 7 were hemiparetic and 5 showed extinction of double simultaneous stimulation. Two patients had bilateral self‐grasping, and 27 avoided self‐grasping. In contrast, only 4 of the 27 patients without self‐grapsing were hemiparetic and 1 had associated sensory extinction. In 2 confused, uncooperative patients, unilateral self‐grasping was the most easily demonstrable focal or asymmetrical sign.The sign indicates a contralateral frontal or parietal lobe lesion. It may be related to the inability to recognize onself.
Phosphoglycerate kinase deficiency: Another cause of recurrent myoglobinuria
Authors: DiMauro Salvatore , Dalakas Marinos , Miranda Armand F. 
Published: January 2005

AbstractA 14‐year‐old boy had myoglobinuria and renal failure after intense exercise; a year earlier he had experienced a milder episode. There was no consanguinity and no family history of neuromuscular diseases or hemolytic anemia. Strength was normal. Forearm ischemic exercise caused prolonged contracture with no rise of venous lactate. Muscle morphology showed only a mild increase of lipid droplets. Glycogen concentration was normal. Muscle phosphoglycerate kinase (PGK) activity was 5% of the normal mean, and all other glycolytic enzymes were normal. The residual PGK activity of muscle was heat stable but showed slower than normal electrophoretic mobility and decreased Michaelis constants for 3‐phosphoglycerate and adenosine triphosphate. The enzyme defect was also expressed in erythrocytes and in fibroblast and muscle cultures. PGK activity was decreased in tissues from the patient's mother but normal in the father. PGK deficiency is an X‐linked recessive trait usually associated with hemolytic anemia, mental retardation, and seizures; myopathy had not been recognized previously. Muscle PGK deficiency is now added to two other newly recognized glycolytic defects, phosphoglycerate mutase and lactate dehydrogenase deficiencies, as a cause of recurrent myoglobinuria.
Occurrence of oligoclonal bands in multiple sclerosis and other CNS diseases
Authors: Miller James R. , Burke Alan M. , Bever Christopher T. 
Published: January 2005

AbstractThe results of cerebrospinal fluid agarose gel electrophoresis in 300 consecutive patients were correlated with neurological examinations and diagnoses, other cerebrospinal fluid studies, and the results of evoked potential examinations. The presence of oligoclonal bands was the most sensitive test for multiple sclerosis (MS); bands were present in from 100% (11/11) of patients with definite MS to 82% (27/33) of those with possible MS (classified by McAlpine criteria). The visual evoked response was the next most sensitive study. Thirty‐eight patients without MS or related disorders had bands in the IgG region. Three patients had plasma cell dyscrasias. Seven patients had thick single bands. Single bands did not correlate with chronic polyneuropathy but appeared to be an artifact of storage. Twenty‐eight patients had active neurological disease, including cerebral infarction (in 5), viral infection (in 4), remote effect of carcinoma (in 4), and acute and chronic polyneuropathies (in 6). In acute illnesses (i.e., vascular insults), repeat electrophoresis showed disappearance of bands. In continually active disease, bands persisted. These results indicate that the presence of oligoclonal bands provides sensitive supporting evidence for the diagnosis of MS but that bands may be present in other disorders, including those not directly related to infection or abnormal immune response. The data suggest that oligoclonal bands may represent an immune reponse to neurological injury that is prominent in disorders with a particularly intense or continuous antigenic stimulus.
Pyridoxine‐dependency seizure: Report of a rare presentation
Authors: Krishnamoorthy K. S. 
Published: January 2005

AbstractA child developed minor motor seizures at the age of 14 months accompanied by an abnormal electroencephalogram showing single spikes and polyspikes over the vertex and frontocentral regions. Seizures continued until the age of 22 months despite administration of several standard anticonvulsants. At age 22 months, pyridoxine, 75 mg daily, was initiated and anticonvulsants were discontinued. Both the seizures and the electroencephalographic abnormality have disappeared over the ensuing 20 months with pyridoxine therapy.
Epilepsies of infancy and childhood
Authors: Gomez Manuel R. , Klass Donald W. 
Published: January 2005

AbstractThis review deals with selected forms of epilepsy beginning after the neonatal period, with special emphasis on those that are highly age dependent for their expression. Experience accumulated in the past decade provides helpful data concerning the clinical‐electroencephalographic correlations, remission rate, differential response to medications, and prognosis, although many questions remain unanswered.
Immunocytochemical studies of cathepsin D in human skeletal muscle
Authors: Whitaker John N. , Bertorini Tulio E. , Mendell Jerry R. 
Published: January 2005

AbstractThe distribution of cathepsin D, an acidic endopeptidase, was localized by immunocytochemistry in human skeletal muscle obtained from 34 persons with a variety of neuromuscular disorders. Normal human skeletal muscle contained small amounts of cathepsin D, all of which was found close to the sarcolemmal membrane. Immunoreative cathepsin D was present in the cytoplasm of many infiltrating phagocytic cells and was increased in skeletal muscle fibers from patients with muscular dystrophies, inflammatory myopathies, rhabdomyolysis, acid maltase deficiency, and neurogenic atrophy. In cases of Duchenne type muscular dystrophy, the increase in cathepsin D was especially prominent in small regenerating fibers, in which it was visualized at the ultrastructural level in lysosome‐like organelles anextralysosomal locations. The function of cathepsin D in skeletal muscle is unclear, but the present findings suggest a possible role in muscle regeneration and repair. Such a role would necessitate careful selection of drugs which interfere with proteolytic activity if they are to be used as therapeutic agents in treating neuromuscular diseases.
The comparative effects of organic brain disease on cerebral blood flow and measured intelligeence
Authors: Butler Robert W. , Dickinson William A. , Katholi Charles , Halsey James H. 
Published: January 2005

AbstractRaw scores for cerebral blood flow (CBF), determined by xenon 133 inhalation, and for Wechsler Adult Intelligence Scale (WAIS) were measured in five groups of 12 subjects each: young normals, aged normals, and patients with cerebrovascular disease without dementia, dementia with cerebrovascular disease, and degenerative brain disease. Important differences were present in the raw data according to age and sex. When these were adjusted a quadratic model revealed a highly significant (p < 0.0001, r = 0.86) correlation between CBF and measured intelligence score. We interpret these findings to indicate that in dementing illnesses the WAIS raw score reflects the severity of the brain disorder, regardless of cause, and that CBF is reduced as a function of the severity rather than the cause of the abnormality.
Amitriptyline potentiates morphine analgesia by a direct action on the central nervous system
Authors: Botney Mitchell , Fields Howard L. 
Published: January 2005

AbstractTrycyclic antidepressants are often effective in the management of neuropathic pains. To elucidate the mechanism of tricyclic‐induced analgesia, amitriptyline and other drugs were injected into lightly anesthetized rats either systemically or via lumbar intrathecal cannulas. Analgesia was assessed by measuring the latency of the tail flik reflex. Using this model, intrathecal amitriptyline (30 μg) significantly enhanced the analgesic effect of an intraperitoneal dose of morphine (0.5 mg/kg) that by itself produced no measurable effect. Given systemically, amitriptyline (30 or 100 μg intraperitoneally) was ineffective. Cocaine (30 μg) also potentiated morphine analgesia, but iprindole, a tricyclic antidepressant with a very weak inhibitory effect on monoamine uptake, was ineffective. This enhancement of analgesia by intrathecal amitriptyline was prevented by pretreating the rats with p‐chlorophenylalanine (300 mg/kg). These results are consistent with the hypothesis that amitriptyline produces analgesia by blocking serotonin uptake and therefore enhancing the action of serotonin at the spinal terminals of an opioid‐mediated intrinsic analgeisa system.
Electrophysiological effects of myasthenic serum factors studied in mouse muscle
Authors: Lerrick A. J. , Wray D. , Vincent A. , Newsom‐Davis J. 
Published: January 2005

AbstractMiniature end‐plate potential (mepp) amplitudes were investigated in mouse diaphragm exposed in vitro to different serum fractions from seven patients with myasthenia gravis who had elevated serum anti‐acetylcholine receptor antibody levels and from controls. The mepp amplitudes were significantly reduced by whole myasthenic sera, restored by washing, and not reduced by heated (56°C) myasthenic sera, which would inactivate complement but not antireceptor antibody. Immunoglobulin G (IgG)‐depleted myasthenic sera also significantly reduced mepp amplitudes, while the IgG fraction alone or with normal serum did not. The results indicate that in vitro reduction of mepp amplitudes in mouse muscle by myasthenic sera is not dependent on the IgG fraction alone, and requires a heat‐sensitive factor.
Thirst, resetting of the osmostat, and water intoxication following encephalitis
Authors: Howe J. G. , Penney M. D. , Currie S. , Morgan D. 
Published: January 2005

AbstractA young man developed pathological thirst and hyperdipsia, hyperphagia, disordered temperature regulation, a lowered threshold for aggressive behavior, apathy, impaired memory, and seizures following encephalitis. He had marked hyponatremia. Bouts of water drinking produced water intoxication and precipitated status epilepticus. Studies of water handling with measurements of plasma osmolality and arginine vasopressin (AVP) revealed a very low thirst threshold (below 242 mOsm/kg) with resetting of the osmostat to a new level (255 mOsm/kg) but normal control of plasma osmolality at that level with adequate AVP release.
Progressive supranuclear palsy: Clinical features and response to treatment in 16 patients
Authors: Jackson Jeffrey A. , Jankovic Joseph , Ford Janet 
Published: January 2005

AbstractAmong 415 patients with parkinsonism, 16 (3.9%) had findings of progressive supranuclear palsy (PSP). This report reviews the clinical features and response to drug therapy in those 16 patients. Anticholinergic drugs failed to benefit any of the 5 patients treated, while presynaptic dopaminergic drugs (Sinemet or amantadine) were beneficial in only 5 of 22 patient trials. Alternatively, dopamine agonists (bromocriptine and pergolide) caused improvement in 9 of 14 patient trials despite the fact that all but 1 of these patients had previously failed to respond to presynaptic dopaminergic drugs. Dopamine agonists such as bromocriptine and pergolide may be useful in some patients with PSP.
Tonic status epilepticus presenting as confusional state
Authors: Somerville Ernest R. , Bruni Joseph 
Published: January 2005

AbstractA 17‐year‐old epileptic was admitted to the hospital in a confused state. Electroencephalography (EEG) with polygraphic recording revealed tonic status epilepticus. Therapy with phenytoin, phenobarbital, valproic acid, and methyl phenidate was unsuccessful. Intravenous diazepam exacerbated the seizures. EEG with polygraphic recording may detect clinically inapparent tonic seizures in epileptics with unexplained confusion, and when generalized paroxysmal fast activity occurs during EEG recording.
Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency
Authors: Dimauro Salvatore , Nicholson John F. , Hays Arthur P. , B Abraham B. , Papadimitriou Alexandros , Koenigsberger Richard , Devivo Darryl C. 
Published: January 2005

AbstractA 2‐week‐old boy had profound generalized weakness, hypotonia, hyporeflexia, macroglossia, and severe lactic acidosis. The infant improved spontaneously: he held his head at 4 1/2 months, rolled over at 7 months, and walked by 16 months. At 33 month of age, he had mild proximal weakness. Macroglossia disappeared by age 4 months. Blood lactic acid declined steadily and was normal by 14 months of age. Histochemical and ultrastructural studies of muscle biopsy specimens obtained at 1 and 7 months of age showed excessive mitochondria, lipid, and glycogen; a third biopsy at age 36 months showed only atrophy of scattered fibers. Cytochrome c oxidase stain was positive in fewer than 5% of fibers in the first biopsy, in approximately 60% of fibers in the second biopsy, and in all fibers in the third biopsy. Biochemical analysis showed an isolated defect of cytochrome c oxidase activity, which was only 8% of the lowest control level in the first biopsy; the activity increased to 47% in the second biopsy and was higher than normal in the third. In contrast to that in the fatal infantile form of cytochrome c oxidase deficiency, the enzyme defect in this condition is reversible. The biochemical basis for this difference remains to be explained.
Sural nerve immune deposits in polyneuropathy as a remote effect of malignancy
Authors: de Visser Bram W. Ongerboer , Feltkamp‐Vroom Thea M. , A Constance A. 
Published: January 2005

AbstractSural nerves from six patients with polyneuropathy as a remote accompaniment of malignancy were were studied by light microscopy, immunofluorescence, electron microscopy, and immuno‐electron microscopy. Sural nerves also were studied in twelve control patients with malignant diseases without peripheral neuropathy and in fifteen with neuropathy associated with nonmalignant conditions. Only nerves from the first group of six patients showed immune deposits of immunoglobulin M, C3, and C1q as granular or confluent layers in the inner laminae of the perineurium as well as in and around endoneural capillaries. The findings are similar to those in published studies of Waldenström's macroglobulinemia, chronic relapsing polyneuropathy, and neuropathy of monoclonal gammopathy and extend the list of conditions to include several forms of carcinoma and Hodgkin's disease.
Suppressor T‐lymphocytes in multiple sclerosis: Analysis of patients with acute relapsing and chronic progressive disease
Authors: Paty Donald W. , Kastrukoff Lorne , Morgan Norma , Hiob Lydia 
Published: January 2005

AbstractT cell‐specific antigens as identified by the anti‐Leu 1, anti‐Leu 2a, and anti‐Leu 3a monoclonal antibodies were quantitated in 31 normal control subjects, 21 adults with spinal cord injury, 58 patients with stable multiple sclerosis, 31 patients with chronic progressive multiple sclerosis, and 15 patients with multiple sclerosis in acute relapse. The only significant deviations from normal values were a slightly low mean T cell (Leu 1‐positive) value in patients in acute relapse and a low suppressor T cell (Leu 2a‐positive) mean value in patients with chronic progressive multiple sclerosis. We were unable to confirm previous studies using the OK series of monoclonal antibodies that reported low suppressor T cell levels (OKT5 and OKT8 positive) in patients with acute relapses. We suggest that modulation (a spontaneous or induced variability in the expression) of individual cell surface antigens may explain the differences seen between our study and other reported series.
Mitochondrial cytochrome deficiency presenting as a myopathy with hypotonia, external ophthalmoplegia, and lactic acidosis in an infant and as fatal hepatopathy in a second cousin
Authors: Boustany Rosemary N. , Aprille June R. , Halperin John , Levy Harvey 
Published: January 2005

AbstractFatal infantile mitochondrial myopathy with lactic acidosis, morphologically abnormal mitochondria, deficient cytochromes aa3 and b, and a Fanconi‐like aminoaciduria has been described. We report two infants, second cousins, with a similar fatal mitochondrial disorder, the cytochrome deficiency limited to skeletal muscle in one child and to liver in the other. The first child at 3 months of age had weight loss, hypotonia, external ophthalmoplegia, and a severe lactic acidosis with a high lactate/pyruvate ratio. Electron microscopy of muscle showed marked proliferation of enlarged mitochondria, many containing concentric rings of cristae. In skeletal muscle mitochondria, cytochromes aa3 and b were not detectable but cytochrome cc was found to be normal by spectroscopy. Cytochrome c oxidase activity was less than 1% of normal. Mitochondria from kidney, liver, heart, lung, and brain examined postmortem had normal cytochromes and preserved cytochrome c oxidase activity. The second cousin at 5 months of age had weighty loss and hepatomegaly but no systemic lactic acidosis. Liver biopsy showed hepatocytes packed with enlarged mitochondria. The liver mitochondria showed deficient cytochromes aa3 and b postmortem, and cytochrome c oxidase activity was less than 10% of normal. Kidney mitochondria had normal cytochromes. Muscle was not studied. The mitochondrial abnormality in the two cousins presumably is related. Unexplained are the mode of genetic transmission or environmental exposure and the apparent involvement of a single different organ in each child.
Genetic linkage evidence for heterogeneity in Charcot‐Marie‐Tooth neuropathy (HMSN type I)
Authors: Bird T. D. , Ott J. , Giblett E. R. , Chance P. F. , Sumi S. M. , Kraft G. H. 
Published: January 2005

AbstractA genetic linkage study performed on a large family with autosomal dominant Charcot‐Marie‐Tooth neuropathy (HMSN type I) showed affected family members to have slow motor nerve conduction velocities, hypoactive tendon reflexes, and distal muscle weakness and atrophy. Results excluded close linkage of the neuropathy in this family to the Duffy blood group locus on chromosome 1. Previous studies in other families have shown positive linkage of HMSN type I to the Duffy locus. The present results provide support for the concept of genetic heterogeneity in HMSN type I. Comparison of this new family with the previous families showing linkage to Duffy reveals that the hereditary neuropathy not linked to the Duffy locus may have less severe slowing of motor nerve conduction velocities and less prominent onion bulb change evident on sural nerve biopsy.
Demyelination induced by serum form patients with Guillain‐Barré syndrome
Authors: Harrison B. M. , Hansen L. A. , Pollard J. D. , McLeod J. G. 
Published: January 2005

AbstractSera from 16 patients with acute Guillain‐Barré syndrome (GBS) and 14 healthy control subjects were injected into rat sciatic nerve and assessed for demyelinating activity by electrophysiological and histological techniques. Only fresh GBS serum, and not GBS serum stored at−20°C or −70°C, blocked conduction to a significantly greater extent than did fresh control serum. Conduction block developed gradually, starting within 24 hours of injection and reaching a maximum between days 3 and 6. Recovery of conduction commenced thereafter, and conduction returned to normal by day 33. Quantitative histological studies on day 6 showed that fresh GBS serum produced significantly more widespread demyelination than did stored GBS serum (p < 0.01). Stored GBS serum showed residual demyelinating activity When compared with fresh control serum (p < 0.01). Fresh serum obtained from 4 patients after recovery from GBS did not produce conduction block, despite it having done so during the acute phase of the disease.
Enzyma‐linked immunosorbent assay for antibody against the nicotinic acetylcholine receptor in human myasthenia gravis
Authors: Kawanami Sachiko , Tsuji Rieko , Oda Kenichiro 
Published: January 2005

AbstractAntibody against acetylcholine receptor (AChR) of human skeletal muscle was measured using enzyme‐linked immunosorbent assay and found in 23 (74%) of 31 Japanese patients with generalized myasthenia gravis. In 15 patients with generalized myasthenia gravis who had not undergone thymectomy and who were not receiving adrenocorticosteriods, the antibody was found in 13 (87%). Antibody was also found in 13 (54%) of 24 patients with myasthenia gragis against AChR fractions obtained from fetal calf thymus. Based on the subunit structures of the AChR protein, the double precipitation assay using iodine 125–α‐bungarotoxin is also capable of detecting antibody against the toxin binding site, by cross reactivity. This is among the first reports of experiments in which enzyme‐linked immunosorbent assay was used to measure the antibodies in human myasthenia gravis and provides evidence of anti‐AChR antibody against antigens from fetal calf thymus.
Use of a heparinoid in patients with hemorrhagic stroke and thromboembolic disease
Authors: Ten H. , Henny C. P. , Büller H. R. , Ten J. W. , Magnani H. N. 
Published: January 2005

AbstractA new heparinoid, Org 10172, was given to five patiens with hemorrhagic stroke with thromboembolic complications. Treatment did not cause progression of cerebral bleeding, and thrombotic processes were inhibited. No side effects were encountered.