bluuebunny/crossref_metadata_2025_split huggingface dataset:
Polymorphous meningitis with atypical mononuclear cells in Sjögren's syndrome
Authors: de la Monte Suzanne M. , Hutchins Grover M. , Gupta Prabodh K. 
Published: January 2005

AbstractCentral nervous system complications in Sjögren's syndrome have been reported sporadically for year. We examined the nature and frequency of central nervous system abnormalities in 11 patients with clinically documented Sjögren's syndrome on whom postmortem examination was performed. In 9, characteristic mixed (polymorphous) inflammatory infiltrates containing large atypical mononuclear cells were observed in the leptomeninges, choroid plexus, or both; only 5 of the 9 had neurological symptoms, however. Among patients with central nervous system lesions, 3 had definite vasculocentric inflammation and 1 had a necrotizing vasculitis with extensive subarachnoid hemorrhage. Four patients had evidence of chronic subarachnoid microhemorrhage associated with polymorphous meningitis. Atypical mononuclear cells in a polymorphous inflammatory exudate were observed in antemortem cerebrospinal fluid cytological specimens from 2 of the patients. The findings suggest that central nervous system involvement in Sjögren's syndrome is common and that neurological symptoms are related to polymorphous meningitis and vasculitis. Detection of atypical mononuclear cells in cerebrospinal fluid specimens may be of diagnostic value.
Postmortem observations on β‐glucuronidase deficiency presenting as hydrops fetalis
Authors: Irani Dina , Kim Han‐Seob , El‐Hibri Huda , Dutton Robert V. , Beaudet Arthur , Armstrong Dawna 
Published: January 2005

AbstractThis study reports a case of type VII mucopolysaccharidosis (β‐glucuronidase deficiency) presenting as lethal hydrops fetalis. Skin fibroblast cultures established postmortem revealed deficient β‐glucuronidase activity. Mucopolysaccharides were stored in various cells of the brain, heart, kidney, liver, and spleen. The stages of maturation of the bones, kidneys, and brain were discrepant, the brain being the least mature organ. A delay in central nervous system maturation may account for psychomotor retardation in some patients with this enzyme deficiency.
Alzheimer's disease: Genetic aspects and associated clinical disorders
Authors: Heyman Albert , E William E. , Hurwitz Barrie J. , Schmechel Donald , Sigmon Alverta H. , Weinberg Tina , Helms Michael J. , Swift Michael 
Published: January 2005

AbstractGenetic aspects and associated clinical disorders were studied in a consecutive series of 68 men and women in whom Alzheimer's disease appeared at or before age 70. Secondary cases of dementia were found in 17 (25%) of the families, affecting 22 of the probands' siblings and parents. The cumulative incidence of Alzheimer's disease in these relatives was approximately 14% at age 75. An increased frequency of Down's syndrome was observed among relatives of the probands: a rate of 3.6 per 1, 000, as compared with an expected rate of 1.3 per 1, 000. A history of thyroid disease was established in 9 (19.6%) of the 46 female probands, a frequency greater than that reported in the general population. There was no excess of hematological malignancies among the blood relatives, and parental age at the time of birth of the probands did not differ from the norm. The results of this study indicate that early‐onset Alzheimer's disease is associated with a genetic factor manifested in a substantial familial aggregation of dementia, a probable excess of Down's syndrome in the probands' relatives, and a possible association with thyroid dysfunction in women with this form of dementia.
Long‐term effects of treatment on endocrine function in children with brain tumors
Authors: Duffner Patricia K. , Cohen Michael E. , Anderson Stephen W. , Voorhess Mary L. , MacGillivray Margaret H. , Panahon Alvin , Brecher Martin L. 
Published: January 2005

AbstractFourteen children with brain tumors received endocrine evaluations at least one year following completion of cranial irradiation. Treatment consisted of operation (13 patients), craniospinal irradiation (6), whole brain irradiation (5), posterior fossa irradiation (3), and chemotherapy (10). Endocrine evaluation included bone age roentgenography and measurement of growth hormone (using sequential arginine and insulin stimulation), thyroxine, thyroid‐stimulating hormone, plasma cortisol, testosterone, prolactin, and urinary follicle‐stimulating hormone and luteinzing hormone. Ten of 12 children (83%) had abnormal responses to both tests of growth hormone stimulation. All growth hormonedeficient patients treated prior to puberty and tested at least 2 years following completion of cranial irradiation had decelerated linear growth. Results of thyroid function tests were abnormal in 4 patients: 2 patients had evidence of primary hypothyroidism, and 2 showed secondary or tertiary hypothyroidism. Two patients had inadequate cortisol responses to insulin hypoglycemia. Urinary follicle‐stimulating hormone and luteinizing hormone, serum prolactin, and serum testosterone levels were appropriate for age in all patients.
Ross river virus–induced demyelination: II. Ultrastructural studies
Authors: Seay Alan R. , Wolinsky Jerry S. 
Published: January 2005

AbstractFocal central nervous system demyelination is a prominent feature of Ross River virus encephalitis in mice. The present ultrastructural study shows that oligodendrocytes are a primary site of viral replication. The earliest myelin disruption occurs in association with an inflammatory infiltrate composed primarily of polymorphonuclear leukocytes, which are later replaced by macrophages. Viral particles are found in oligodendrocytes, selected neuronal populations, macrophages, and polymorphonuclear leukocytes through the end of the first week of infection as macrophages remove myelin from normal‐appearing axons. Between the second and third weeks of infection, axons within foci of demyelination partially remyelinate with central myelin. Schwann cells are not found within regions of central remyelination. Cyclophosphamide treatment does not prevent or delay demyelination or remyelination. Results of this and previous studies strongly suggest that Ross River virus‐induced demyelination is not immune mediated but rather the direct result of viral infection of oligodendrocytes.
Regulation of regional cerebral blood flow during and between migraine attacks
Authors: Lauritzen Martin , Olsen Tom Skyhoj , Lassen Niels A. , Paulson Olaf B. 
Published: January 2005

AbstractCerebrovascular reactivity to voluntary hyperventilation, moderate hypertension, and physiological activation was studied in nine patients during induced migraine attacks and in four patients between their attacks. Regional cerebral blood flow was measured by the xenon 133 injection technique in 254 areas of one hemisphere. The partly hypoperfused hemisphere allowed for comparison of adjacent hypoperfused and normally perfused brain areas. During attacks the carbon dioxide reactivity was decreased to 2.8 ± 0.8% per mm Hg in the oligemic regions compared with 5.8 ± 0.8% per mm Hg in the normally perfused brain. Blood pressure autoregulation was normal in all brain regions. Regional blood flow increase in response to physiological activation was severely impaired in the hypoperfused brain areas, whereas neighboring normally perfused regions reacted normally. Confinement of the regulation abnormalities to the area of the oligemia supports our suggestion that the blood flow changes are caused by a change in local metabolism. Between attacks of migraine, the patients had normal regulation of brain circulation.
Resumption of behavior following intracarotid sodium amobarbital injection
Authors: Rausch Rebecca , Fedio Paul , Ary Catherine M. , Engel Jerome , Crandall Paul H. 
Published: January 2005

AbstractRecovery rates of selected behaviour following intracartid sodium amobarbital injection were examined in 17 patients with unilateral focal temporal lobe epilepsy. Left hemisphere injections resulted in more prolonged disruption of naming (p < 0.00001), reading (p < 0.0001), matching‐to‐sample behaviours (p < 0.05), and short‐term recognition memory for pictures (p < 0.0001) and words (p < 0.0003) than did right hemisphere injections. In addition, recovery of behaviours was prolonged if the injection was administered to the hemisphere contralateral to that with the primary seizure focus (p < 0.005). A trend toward a similar pattern was seen in the postinjection electroencephalogram with the maximum slowing found in the injected hemisphere prolonged if the epileptic focus was in the contralateral hemisphere (p = 0.06). These findings suggest a negative effect of an epileptic lesion on the contralateral hemisphere.
Hyperekplexia: A syndrome of pathological startle responeses
Authors: Sáenz‐Lope E. , Herranz‐Tanarro F. J. , Masdeu J. C. , Peña J. R. Chacón 
Published: January 2005

AbstractWe describe a family and three sporadic cases of startle disease, or hyperekplexia. Sudden unexpected noises caused the patients to fall rigidly, often injuring themselves but retaining consciousness. This unusual entity differs from startle epilepsy and cataplexy. Clonazepam proved ineffective in three patients. Valproic acid, 5‐hydroxytryptophan, or piracetam markedly reduced the abnormal startle in three patients.
Neurological disorders associated with deficiency of glutamate dehydrogenase
Authors: Plaitakis Andreas , Berl Soll , Yahr Melvin D. 
Published: January 2005

AbstractGlutamate dehydrogenase (GDH) activity was measured in leukocytes from 88 patients with various types of degenerative neurological disorders affecting primarily the cerebellum and/or the basal ganglia, and 26 healthy control subjects. Twelve patients with slowly progressive multiple‐system atrophic disorders were found to have a partial deficiency of this enzyme (52% of control level). The majority of these patients evidenced a constellation of neurological findings consistent with the diagnosis of olivopontocerebellar atrophy, although others were atypical in their neurological manifestations. Thus, GDH‐deficient patients were encountered with predominantly extrapyramidal manifestations (atypical Parkinson's disease), cerebellar dysfunction with peripheral neuropathy, or anterior horn cell signs, suggesting that a pleomorphic phenotypic expression of the enzymatic deficiency may occur. Seven cases of GDH deficiency were familial and 5 were sporadic. The former patient group consisted of siblings of either sex, but no parents or offspring were affected. The genetic pattern of the disorder is compatible with autosomal recessive inheritance. Patients with dominantly inherited olivopontocerebellar atrophy or other types of cerebellar or basal ganglia degenerative neurological disorders showed normal GDH activity. Leukocyte GDH was fractionated into “particulate‐heat labile” and “soluble‐heat stable” components. In the patients the decrease in activity was limited to the “particulate‐heat labile” component. A genetic mutation of a GDH “isoenzyme” may occur in some patients with multiple‐system degeneration.
Whole body insulin resistance in myotonic dystrophy
Authors: Moxley Richard T. , Corbett Alastair J. , Minaker Kenneth L. , Rowe John W. 
Published: January 2005

AbstractTo quantitate the degree of whole body insulin resistance in patients with myotonic dystrophy, three separate euglycemic insulin infusions were given to ambulatory patients and the results compared with findings in normal control subjects. Basal glucose and insulin values were similar for the two groups. There was no significant difference in insulin clearance rates between normal subjects and patients at the three insulin infusion rates used. A highly significant decrease in the whole body glucose disposal rate was seen during the 120‐minute insulin infusion in the patients with myotonic dystrophy compared with normal subjects at all three insulin dosages (20 mU/m2/min: 2.18 ± 0.29 [standard error] versus 5.49 ± 1.72 mg/kg/min, p < 0.0001; 80 mU/m2/min: 4.16 ± 0.34 versus 8.49 ± 0.45 mg/kg/min, p < 0.0001; 200 mU/m2/min: 5.22 ± 0.53 versus 10.06 ± 0.50 mg/kg/min, p < 0.0001). These marked decreases in glucose disposal rates for the patients were adjusted in accordance with their 24‐hour urinary creatinine excretion rate to correct for the difference in muscle mass between patients and controls. This adjusted glucose disposal rate was 15 to 25% lower (p < 0.02) in the patients with myotonic dystrophy at insulin infusion rates of 20 and 80 mU. During the 200 mU insulin infusions, the adjusted glucose disposal rate remained lower than that in normal subjects but was of borderline statistical significance. These studies suggest that moderately severe whole body insulin resistance is responsible for the postprandial hyperinsulinemia typically seen in patients with myotonic dystrophy.
Amyloid plaques in the brains of mice with Creutzfeldt–Jakob disease
Authors: Tateishi Jun , Nagara Hitoshi , Hikita Kohtaro , Sato Yuji 
Published: January 2005

AbstractBy intracerebral inoculation with the brain homogenates from 9 patients with Creutzfeldt‐Jakob disease, amyloid plaques were induced in mouse brains after incubation periods of 403 to 835 days. The plaques existed mainly in the cerebral white matter beneath the lateral ventricle walls amd were more numerous in the hemisphere where injection was made. Morpholoogical findings of the plaques were almost identical to those seen in patients wtih kuru and Creutzfeldt‐Jakob disease, and in animals with scrapie. They were also similiar to the cores of senile plaques seen in patients with alheimer's disease.
IgM Demyelinative neuropathy with amyloidosis and biclonal gammopathy
Authors: Julien J. , Vital C. , Vallat J. M. , Lagueny A. , Ferrer X. , Deminiere C. , Leboutet M. J. , Effroy C. 
Published: January 2005

AbstractA 59‐year‐old man developed a sensorimotor neuropathy of the upper and lower limbs, associated with a biclonal gammopathy, within the space of a few months. Each of two paraproteins was coupled with a distinct IgM kappa IgG lambda light chain. Examination of a nerve biopsy specimen by electron microscopy revealed a demyelinative process with a widening of the interlaminar space in the myelin sheath, as well as deposits of amyloid substance between nerve fibers. Direct immunofluorescence revealed the presence of IgM and of the kappa light chain in certain Schwann cells, while the lambda IgG was fixed to the amyloid deposits. Immunoperosidase histochemistry showed a positive reaction in normal human nerve tissue to the immune serum IgM and kappa light chain. The findings suggest that the widening of the interlaminar space of the diseased myelin corresponds to an active fixation of immunoglobulin on the sheath of the Schwann cell. The presence of two light chains in this patient's gammopathy caused a dual pathology: the kappa chain, a demyelinative neuropathy, and the lambda chain, a primary amyloidosis, with deposits in the peripheral nerve and in the kidney.
Contralateral cerebellar hypometabolism following cerebral insult: A positron emission tomographic study
Authors: Kushner Michael , Alavi Abass , Reivich Martin , Dann Robert , Burke Allan , Robinson Gerald 
Published: January 2005

AbstractPositron emission tomographic studies of 16 patients with cerebral ischemia and brain tumor showed asymmetries in cerebellar metabolism not encountered in 14 normal control subjects. An asymmetry was present in 62.5% of cases. The lower metabolic rate occurred in the cerebellar hemisphere contralateral to the cerebral lesion (p <0.001; sign test). In all cases computed tomography showed the supratentorial lesion to be unilateral and the posterior fossa contents to be unaffected. The presence of depressed cerebellar metabolism was highly associated with involvement of the contralateral parietal lobe (p <0.02; phi coefficient). The presence of a cerebellar abnormality was not related to the presence of any particular sign. Serial studies showed normalization of cerebellar metabolism over time. It is likely that this effect is a result of interruption of the functional interconnections between the cerebrum and the cerebellum.
Eye movements induced by head rotation in unresponsive patients
Authors: Leigh R. John , Hanley Daniel F. , Munschauer Frederick E. , Lasker Adrian G. 
Published: January 2005

AbstractEye movements induced by head rotation were studied in 6 patients in acute coma, 4 patients in a persistent vegetative state, and 6 healthy, alert control subjects. Results from control subjects suggest that the oculocephalic response in the supine position is principally a vestibulo‐ocular reflex. A position‐step rotation of the head produced an initial oppositely directed eye movement, followed by a drift of the eyes back toward midline with a negative exponential time course. The time constant of this drift was greater than or equal to 10 seconds in control subjects but less than or equal to 1.5 seconds in unconscious patients and less than or equal to 0.5 seconds in vegetative patients. The rapid drift back of the eyes in unresponsive patients implies dysfunction of reticular and, possibly, cerebellar connections; the rate of this drift may indicate the severity and extent of brain injury. Sinusoidal head rotation produced slow and quick phases of nystagmus in normal subjects. Quick phases were absent in patients in acute coma; although present in vegetative patients, the quick phases did not keep the eyes close to primary position, as was the case in control subjects.
Quantitation of the sweating deficiency in diabetes mellitus
Authors: Kennedy William R. , Sakuta Manabu , Sutherland David , Goetz Frederick C. 
Published: January 2005

AbstractThis report introduces quantitative tests for the evaluation of sweating and the results obtained in 81 diabetic and 30 control subjects. The tests rely on the ability of pilocarpine, introduced into the skin by iontophoresis, to stimulate sweating from fully or partially innervated sweat glands but not from denervated glands. Many diabetic patients had a reduced number of excitable sweat glands and a low volume of sweat per square centimeter of skin. The results of the sweat tests correlated best with the clinically determined perception of pain from pinprick. The similar degree of involvement of sudomotor axons and pain‐conveying axons may be related to the known similarity in size and reinnervation patterns. There was poor correlation of the sweating deficiency with alpha motor conduction velocity and with denervation of foot muscles as determined by the evoked muscle action potential. The number of excitable sweat glands was usually normal if the muscle action potential was above 0.5 mv, and often normal even when a muscle action potential was unobtainable. Every diabetic patient with abnormal sweating and several with normal sweating had reduced heart rate fluctuation during a standard Valsalva maneuver or during slow respiration.
Molecular genetics, recombinant DNA techniques, and genetic neurological disease
Authors: Rosenberg Roger N. 
Published: January 2005

AbstractThe molecular defects responsible for Huntington's disease, the spinocerebellar degenerations, myotonic muscular dystrophy, neurofibromatosis, and tuberous sclerosis, among other major dominant inherited diseases of the nervous system, will be identified using the new techniques of molecular genetics. With synthesized nucleic acid segments complementary to portions of the patient's DNA, known as complementary DNA probes, it will be possible to identify and isolate the mutant gene responsible for a particular disease. These events are referred to as gene cloning. In addition, complex genetic regulatory mechanisms involved in cell differentiation during neuroembryogenesis will be elucidated with the application of these strategies. It is important for the clinician to become familiar with the precision and potential of these new methodologies, because they will soon influence significantly the practice of neurology.
Diagnostic imaging of herpes simplex virus encephalitis using a radiolabeled antiviral drug: Autoradiographic assessment in an animal model
Authors: Saito Yutaka , Rubenstein Richard , Price Richard W. , Fox Jack J. , Watanabe Kyoichi A. 
Published: January 2005

AbstractTo develop a new approach to the diagnosis of herpes simplex encephalitis, we used a radiolabeled antiviral drug, 2′‐fluoro‐5‐methyl‐1‐β‐D‐arabinosyluracil labeled with carbon 14 ([14C]FMAU), as a probe for selectively imaging brain infection in a rat model by quantitative autoradiography. A high correlation was found between focal infection, as defined by immunoperoxidase viral antigen staining, and increased regional [14C]FMAU uptake in brain sections. Two potential sources of false‐positive imaging were defined: high concentrations of drug in the choroid plexus because of its higher permeability compared with brain, and drug sequestration by proliferating uninfected cell populations. Our results support the soundness of the proposed strategy of using a labeled antiviral drug that is selectively phosphorylated by herpes simplex virus type 1 thymidine kinase in conjunction with scanning methods for human diagnosis, and also define some of the factors that must be taken into account when planning clinical application.
Paraproteins in the spinal fluid of patients with paraproteinemic polyneuropathies
Authors: Dalakas Marinos C. , Papadopoulos Nicholas M. 
Published: January 2005

AbstractHigh‐resolution agarose gel electrophoresis, combined with immunofixation electrophoresis, was used to detect and identify immunoglobulins in the cerebrospinal fluid of six patients with paraproteinemic polyneuropathy. In four patients with serum IgMk monoclonal protein, we found a discrete band in the cerebrospinal fluid identified also as IgMk; one patient with serum IgGk had an IgGk cerebrospinal fluid band, and one patient with serum IgAk had an IgAk monoclonal band in the cerebrospinal fluid. The permeability of the blood–cerebrospinal fluid barrier was increased 3 to 10 times in all these patients. The findings indicate that in patients with paraproteinemic polyneuropathy, the increased permeability of the blood–cerebrospinal fluid barrier results in influx of serum proteins into the cerebrospinal fluid, including high‐molecular‐weight IgM. Because monoclonal IgM, unlike monoclonal IgG and IgA, is not found in the cerebrospinal fluid of neurologically intact patients, its presence in the cerebrospinal fluid of patients with paraproteinemias should lead the physician to suspect neurological involvement and can be of diagnostic value.
Computed tomography in Alexander's disease
Authors: Farrell Kevin , Chuang Sylvester , Becker Laurence E. 
Published: January 2005

AbstractComputed tomography demonstrated contrast‐enhancing lesions in the periventricular frontal regions, caudate nuclei, and thalami in an infant with Alexander's disease. The distribution of the enhancing lesions corresponded to the areas in which Rosenthal fibers were most prominent. These radiological findings have not been described in other white matter diseases; thus, they may help to distinguish Alexander's disease from Canavan's disease and decrease the necessity for diagnostic brain biopsy.