bluuebunny/crossref_metadata_2025_split huggingface dataset:
Intracerebral hemorrhage: External validation and extension of a model for prediction of 30‐day survival
Authors: Tuhrim Stanley , Dambrosia James M. , Price Thomas R. , Mohr Jay P. , Wolf Philip A. , Hier Daniel B. , Kase Carlos S. 
Published: January 2005

AbstractWe report validation of a previously reported logistic regression model for predicting 30‐day survival after supratentorial intracerebral hemorrhage using independent, propectively collected data. The original model, using initial Glasgow Coma Scale score, hemorrhage size, and pulse pressure, accounted for mortality or survival at 30 days in 92% of patients in the Pilot Stroke Data Bank with a sensitivity of 0.84 and a specificity of 0.96. For external validation, the model was used to predict 30‐day status for each patient in the Main Phase Stroke Data Bank for whom complete risk factor information was available. Overall, 90% of patients' outcomes were correctly predicted with a sensitivity of 0.85 and a specificity of 0.92. Two factors not collected in the pilot Stroke Data Bank, hyperglycemia and intraventricular hemorrhage extension, were assessed to determine if they provided additional predictive information on 30‐day mortality. Intraventricular hemorrhage extension contributed significant predictive information in a logistic regression, whereas hyperglycemia did not. The resulting four‐factor model with an interaction term (intraventricular hemorrhage extension and Glasgow Coma Scale score) correctly classified the survival status of 94% of patients at 30 days. A more general outcome, death or failure to achieve a “good” Activities o Daily Living Score by one year, was analyzed with respect to the same four factors. The resulting model correctly classified 95% of the patients in the cohort.
Chorea‐acanthocytosis: Abnormal composition of covalently bound fatty acids of erythrocyte membrane proteins
Authors: Sakai Tetsuo , Antoku Yasunobu , Iwashita Hiroshi , Goto Ikuo , Nagamatsu Keiji , Shii Hiroaki 
Published: January 2005

AbstractPhospholipid class, peak profile of each phospholipid class, loosely bound fatty acids, covalently (tightly) bound fatty acids of the erythrocyte membrances, and plasma fatty acids were investigated using high‐performance liquid chromatography in six patients with chorea‐acanthocytosis and 14 age‐ and sex‐matched normal control subjects. Additionally, six patients with Huntington's disease were included as disease control subjects in the study of covalently bound fatty acids. Study of covalently (tightly) bound fatty acids in erythrocyte membrane proteins after alkaline hydrolysis, hitherto undescribed in chorea‐acanthocytosis, revealed that palmitic acid (C16:0) was significantly increased and stearic acid (C18:0) was decreased in the patients with chorea‐acanthocytosis. Analyses for total covalently bound fatty acids disclosed that palmitic and docosahexaenoic (C22:6) acids were increased and stearic acid was decreased in chorea‐acanthocytosis. Phospholipid class(phosphatidylcholine, phosphatidylethanolamine, sphingomyelin, and phosphatidylserine) and peak profile of each phospholipid class from the erythrocyte membranes did not differ between the patients with chorea‐acanthocytosis and the control subjects. Of the loosely bound fatty acids, linoleic acid (C18:2) was significantly decreased in those with chorea‐acanthocytosis, which seemed to be nonspecific.
Neuropathy associated with monoclonal gammopathies of undetermined significance
Authors: Gosselin Sylvie , Kyle Robert A. , Dyck Peter James 
Published: January 2005

AbstractMonoclonal proteins (IgM, IgG, and IgA) in the serum or urine of patients with neuropathy may provide a marker for amyloidosis, myeloma, lymphoma, leukemia, Waldenström's macroglobulinemia, or monoclonal gammopathy of undetermined significance (MGUS). The clinical characteristics, course, and electromyographic features among neuropathies associated with monoclonal IgM (IgM‐MGUS, 31 patients), monoclonal IgG (IgG‐MGUS, 24 patients), and monoclonal IgA (IgA‐MGUS, 10 patients) evaluated between 1980 and 1986 were compared. Four statistically significant differences set IgM‐MGUS neuropathies apart from IgG‐MGUS and IgA‐MGUS neuropathies: (1) higher frequency of sensory loss and ataxia, (2) higher frequency of nerve conduction abnormality—10 attributes were significantly worse (none were significantly better), (3) higher frequency of dispersion of the compound muscle action potential, and (4) higher frequency of IgM‐MGUS in the MGUS neuropathy cohort than is characteristic of MGUS without neuropathy seen at our institution or than is encountered in epidemiological surveys. These differences were not thought to be due to selection or severity biases. Neither the amount of IgM nor the estimated size of the monoclonal peak was associated with severity of neuropathy. The type and severity of IgM‐MGUS neuropathies with anti‐myelin‐associated glycoprotein antibodies were not significantly different from those without anti‐myelin‐associated glycoprotein antibodies. A simple relationship between the presence and amount of IgM‐MGUS or anti‐myelin‐associated glycoprotein antibodies and neuropathy cannot be assumed.
Adrenoleukodystrophy: A correlation between saturated very long‐chain fatty acids in mononuclear cells and phenotype
Authors: Antoku Yasunobu , Koike Fumihiko , Ohtsuka Yachiyo , Sakai Tetsuo , Tsukamoto Kohsuke , Nagara Hitoshi , Iwashita Hiroshi , Goto Ikuo 
Published: January 2005

AbstractSaturated very long‐chain fatty acids in erythrocyte membranes, blood plasma, and mononuclear cells were studied in 4 patients with childhood‐adolescent adrenoleukodystrophy and 4 patients with adult adrenoleukodystrophy and 19 normal control subjects by using high‐performance liquid chromatography. Ratios of C26:0 to C22:0 in mononuclear cells, erythrocyte membranes, and blood plasma in patients with childhood‐adolescent and adult adrenoleukodystrophy were significantly higher than in normal control subjects. Furthermore, ratios of C26:0 to C22:0 in mononuclear cells were significantly higher in patients with childhood‐adolescent adrenoleukodystrophy than in patients with adult adrenoleukodystrophy, whereas there was no significant difference in the ratios in erythrocyte membranes and blood plasma between the two groups of patients with adrenoleukodystrophy. These results suggest that there is a correlation between phenotype and ratio of C26:0 to C22:0 within mononuclear cells in patients with adrenoleukodystrophy.
The spectrum of lissencephaly: Report of ten patients analyzed by magnetic resonance imaging
Authors: Barkovich A. James , Koch Thomas K. , Carrol Clark L. 
Published: January 2005

AbstractClinical data and magnetic resonance imaging scans from 10 patients with lissencephaly were reviewed. Although 6 of the 10 patients were less than 1 year old at the time of their most recent examination, those who were old enough for developmental assessment were, with a single exception, severely developmentally delayed. All patients had anatomical features compatible with impaired neuronal migration but normal myelination and, consequently, adequate glial migration. The severity of the lissencephaly did not seem to correlate with the severity of the clinical manifestations. One patient showed less delayed development than anticipated, perhaps because the most severely involved region of the brain was the prefrontal area.
Single‐gene neurological disorders in south wales: An epidemiological study
Authors: MacMillan J. C. , Harper P. S. 
Published: January 2005

AbstractSingle‐gene neurological disorders account for a significant proportion of the work load of any regional genetics unit. In an attempt to assess the likely impact of recombinant DNA technology on these debilitating diseases, a population prevalence study of the major neurogenetic diseases was carried out in the South Wales region of Great Britain. The minimum overall prevalence of these disorders was estimated to be 58.6/100,000 population.
Predictive value of intraoperative electrocorticograms in resective epilepsy surgery
Authors: McBride M. C. , Binnie C. D. , Janota I. , Polkey C. E. 
Published: January 2005

AbstractThe preresection and postresection intraoperative electrocorticograms of 76 consecutive patients undergoing resective surgery for intractable epilepsy were analyzed to see if location, configuration, and discharge rate of epileptiform activity correlated with type and location of pathology of the resected specimens and outcome in regard to seizure control. The location of the predominant spike focus did not correlate with either type or location of pathology or with seizure outcome from temporal lobe surgery (n = 58). The presence of spontaneous or activated spikes outside the resected area did not correlate with outcome from any surgery type. Positive spikes recorded from the amygdala and anterior hippocampus (n = 37) were not associated with type or location of pathology, but bursts of fast repetitive spikes on these needle recordings tended to associate with mesiotemporal pathology (p = < 0.02) and with mesial temporal sclerosis (p = < 0.04). A preresection spike discharge rate of 1 per 4 minutes or less was associated with a poor outcome in 5 of 6 patients (p = 0.03), whereas a rate of 18 or more per minute was associated with a good outcome in 15 of 18 patients (p < 0.06). Persistence of 50% or more of the preresection epileptiform activity in the postresection electrocorticogram after temporal lobectomy correlated with poor outcome in 80% (p = < 0.03), although the absolute amount of epileptiform activity remaining in the postresection electrocorticogram did not correlate with outcome. Further studies are needed to define the role of intraoperative electrocorticograms in resective epilepsy surgery.
Leber's hereditary optic neuropathy and complex I deficiency in muscle
Authors: Larsson Nils‐Göran , Andersen Oluf , Holme Elisabeth , Oldfors Anders , Wahlström Jan 
Published: January 2005

AbstractWe investigated a family with Leber's hereditary optic neuropathy in which affected individuals were homoplasmic for the point mutation of the NADH‐dehydrogenase 4 gene of mitochondrial DNA, described by Wallace and colleagues in 1988. The proband had bilateral optic atrophy, tremor, dystonia, and sharply defined lesions in the putamen on magnetic resonance images. Optic atrophy was found in another 3 of 13 investigated relatives on the maternal side. Additional neurological signs were found but only in patients with optic neuropathy. The morphological appearance and the respiratory chain function of muscle tissue were investigated in the proband, his mother, and 3 siblings. Polarographic measurements revealed complex I deficiency in the 5 investigated subjects. Morphological changes of mitochondria were found in 4 of these subjects. There was no decrease in complex I activity measured as NADH ferricyanide reductase or rotenone‐sensitive NADH cytochrome c reductase activities. In other cases with complex I deficiency, good agreement between polarographic and spectrophotometric measurements was found. This study showed that there is decreased activity of complex I of the respiratory chain in muscle and that cerebral striatal lesions occur in Leber's hereditary optic neuropathy with the NADH‐dehydrogenase 4 gene point mutation.
Medullary lesion inducing pulmonary edema: A magnetic resonance imaging study
Authors: Simon Roger P. , Gean‐Marton Alisa D. , Sander James E. 
Published: January 2005

AbstractA 27‐year‐old woman with a recent diagnosis of multiple sclerosis developed several episodes of noncardiogenic pulmonary edema over a 3‐month period, each requiring intubation and ventilatory support. The development and subsequent resolution of an isolated lesion at the obex was correlated with the episodes. The literature regarding the anatomical basis of neurogenic pulmonary edema is reviewed.
Cyclic AMP metabolism in fragile X syndrome
Authors: Berry‐Kravis Elizabeth , Huttenlocher Peter R. 
Published: January 2005

AbstractCyclic AMP (cAMP) metabolism was studied in platelets from a series of 14 patients with fragile X syndrome (fra X) and 21 control individuals. 1‐Isobutyl‐3‐methylxanthine was used to inhibit phosphodiesterase and thus measure cAMP production, prostaglandin E1 was used to assess receptor‐mediated cAMP accumulation, and forskolin was used to directly stimulate the catalytic subunit. In patients with fra X, basal production was 63% of that of control subjects (p = 0.019). Prostaglandin E1– and forskalin‐stimulated production were 61% (p = 0.039) and 56% (p = 0.012) of that of control subjects, respectively. cAMP production in 8 patients with fra X overlapped the control range, whereas measures of production in 6 patients formed a cluster with values lower than any of the 21 control subjects assayed, suggesting possible biochemical heterogeneity within patients with fra X. Results obtained from the group of patients with fra X suggest possible abnormal function or regulation of the catalytic subunit of adenylate cyclase in at least a subgroup of patients with fra X. Variability of biochemical findings in patients with fra X may reflect the known high variability of the clinical syndrome.
Regenerating and denervated human muscle fibers and satellite cells express neural cell adhesion molecule recognized by monoclonal antibodies to natural killer cells
Authors: Illa Isabel , Leon‐Monzon Marta , Dalakas Marinos C. 
Published: January 2005

AbstractThe monoclonal antibodies anti–Leu‐19 and anti–NKH‐1 recognize the CD56 differentiation antigen expressed on natural killer (NK) cells and on a T‐cell subset. Because CD56 is an isoform of neural cell adhesion molecule (N‐CAM), we examined its expression on human muscle using antibodies to Leu‐19, NKH‐1, and purified N‐CAM in an immunohistochemical, immunoblot, and immunoprecipitation study on 70 muscle biopsy specimens from various muscle diseases and on human muscle in tissue culture. Anti–Leu‐19, anti–NKH‐1, and anti–N‐CAM had identical immunoreactive patterns. In tissue sections, they specifically recognized the satellite cells and the regenerating or newly denervated muscle fibers; in tissue cultures, they immunoreacted with myoblasts and myotubes; and in the homogenates of myopathic muscle and cultured myotubes, they immunoprecipitated the same glycoprotein of 145‐ to 220‐kd. The study concludes that (1) the commercially available monoclonal antibodies to NK cells, Leu‐19 and NKH‐1, are immunocytochemical markers for the satellite cells and the regenerating or newly denervated muscle fibers complementing conventional techniques in the diagnosis of patients with neuromuscular disorders; and (2) the CD56 is a common antigen shared by NK cells and muscle fibers during certain stages of muscle maturation, regeneration, or denervation. When expressed in the muscle, CD56 may facilitate the adhesion of cytotoxic lymphocytes to the muscle and play a role in muscle fiber injury.
Occult epidural chloroma complicated by acute paraplegia following lumbar puncture
Authors: Wong Meng C. , Krol George , Rosenblum Marc K. 
Published: January 2005

AbstractAcute paraplegia complicating lumbar puncture in a leukemic patient with an unsuspected epidural chloroma is described, including the postmortem findings. Lumbar puncture can precipitate irreversible injury to the spinal cord in the patient with an occult lesion causing subarachnoid block. This account, in addition to documenting this phenomenon, suggests a potential advantage to magnetic resonance imaging over myelography.
Primary structure of the adult human skeletal muscle voltage‐dependent sodium channel
Authors: George Alfred L. , Komisarof Jeffrey , Kallen Roland G. , Barchi Robert L. 
Published: January 2005

AbstractThe gene encoding the principal voltage‐dependent sodium channel expressed in adult human skeletal muscle (SCN4A) has recently been linked to the pathogenesis of human hyperkalemic periodic paralysis and paramyotonia congenita. We report the cloning and nucleotide sequence determination of the normal product of this gene. The 7,823 nucelotide complementary DNa, designated hSkM1, encodes a 1,836 amino acid protein that exhibits 92% identity with the tetrodotoxin‐senstive rat skeletal muscle sodium channel alpha subunit, but lower homology with either the human heart sodium channel or with other sodium channels from immature rat muscle or rat brain. Specific hSkM1 RNA trasnscripts are expressed in adult human skeletal muscle but not in heart, brain, or uterus. The SCN4A gene product, hSkM1, is the human homologue of rSkM1, the tetrodotoxin‐sensitive sodium channel characteristic of adult rat skeletal muscle. This structural information should provide the necessary backdrop for identifying and evaluating mutations affecting the function of this channel in the periodic paralyses.
Magnetic resonance image–based hippocampal volumentry: Correlation with outcome after temporal lobectomy
Authors: Jack Clifford R. , Sharbrough Frank W. , Cascino Gregory D. , Hirschorn Kathryn A. , O'Brien Peter C. , Marsh W. Richard 
Published: January 2005

AbstractWe developed a magnetic resonance imaging (MRI)–based technique for measuring the volume of the hippocampal formation. In this study, the relationship between volumes of the hippocampal formation and outcome (i.e., postoperative seizure control) after anterior temporal lobectomy for intractable epilepsy was analyzed in 50 consecutive patients in whom the surgical specimen did not contain an epileptogenic mass lesion. Outcome was classified as either satisfactory or unsatisfactory. A significant relationship was found between outcome and volume of the operated of hippocampal formation (p = 0.012), as well as a derived volumetric measure (nonoperated minus operated volume of the hippocampal formation) (p = 0.004). The association between outcome and nonoperated volume was borderline (p = 0.057). Thirty‐four (97%) of 35 patients in whom the volumetric study and electroencephalography (EEG) concordantly lateralized the seizure disorder had satisfactory postoperative seizure control. Conversely, only 7 (42%) of 12 patients in whom the volume study was nonlateralizing and 1 (33%) of 3 in whom the EEG and volume study were discordant had a satisfactory outcome. We regard our MRI‐based study of hippocampal formation volume as a noninvasive surrogate for the identification of moderate or severe mesial temporal sclerosis. The technique is a useful adjunct in a multidisciplinary, preoperative epilepsy evaluation when T2‐weighted MRIs do not reveal an epileptogenic mass lesion. The reasons for the usefulness of this imaging technique are: (1) It is an independent source of information on seizure lateralization, (2) it will provide information as to expected postoperative outcome, and (3) it may aid in appropriately selecting patients for invasive preoperative monitoring studies.
Creutzfeldt‐Jakob disease cosegregates with the codon 178AsnPRNP mutation in families of European origin
Authors: Goldfarb Lev G. , Brown Paul , Haltia Matti , Cathala Françoise , McCombie W. Richard , Kovanen Jussi , Červen̆áková Larisa , Goldin Lynn , Nieto Ana , Godec Mark S. , Asher David M. , Gajdusek D. Carleton 
Published: January 2005

AbstractWe recently discovered an amino acid–altering heterozygous mutation in codon 178 of the PRNP amyloid precursor gene in patients with familial Creutzfeldt‐Jakob disease. This mutation is now shown to be associated with the occurence of disease in 7 unrelated families of Western European origin, among which a total of 65 members are known to have died from Creutzfeldt‐Jakob disease. The mutation was detected in each of 17 tested patients, including at least 1 affected member of each family, and in 16 of 36 of their first‐degree relatives, but not in affected families with other mutations, patietns with the nonfamilial form of the disease, or 83 healthy control individuals. Linkage analysis in two informative families yielded a lod score of 5.30, which, because no recombinants were found, strongly suggests that codon 178Asn is the actual disease mutation.
Vascular differentiation and glucose transporter expression in rat gliomas: Effects of steroids
Authors: Guerin Christopher , Wolff Johannes E. A. , Laterra John , Drewes Lester R. , Brem Henry , Goldstein Gary W. 
Published: January 2005

AbstractThe GLUT1 isoform of the glucose transporter is normally expressed at high levels in differentiated brain vessels that also express a permeability barrier. In contrast, malignant brain neoplasms have relatively undifferentiated vessels that are highly permeable, proliferate to high vascular densities, and often lose GLUT1 expression. Using the rat intracerebral 9L glioma model, we investigated whether dexamethasone‐induced changes in permeability are associated with the appearance of other differentiated vascular properties. The percentage of vessels expressing immunohistochemically detectable GLUT1 (74.2 ± 6.1%) and the tumor vessel density as assessed by laminin immunostaining (282 ± 37 vessels/mm2) did not vary with control tumor size. Dexamethasone treatment resulted in an 83% reduction of vascular permeability to intravenous Evans blue, an increased percentage of vessels expressing GLUT1 (106.4 ± 10.5%), lower vascular density (102 ± 64 vessels/mm2), and smaller tumor size (control cross‐sectional area, 17.0 ± 3.4 mm2; treated, 4.6 ± 1.0 mm2). Essentially all vessels became GLUT1‐positive after dexamethasone treatment. Increased GLUT1 expression by glioma vessels in association with the appearance of other signs of differentiation (low vascular density, slow tumor growth) suggests that immunostaining for GLUT1 may identify neoplasms that are biologically less aggressive.
Autoimmune inflammation of astrocyte transplants
Authors: Lublin Fred D. , Marini Joseph C. , Perreault Marielle , Olender Christina , D'Imperio Concetta , Joseph Jeymohan , Korngold Robert , Knobler Robert L. 
Published: January 2005

AbstractAstrocytes have been shown to be capable of serving as antigen‐presenting cells and as targets for encephalitogenic cytotoxic T lymphocytes. The role of astrocytes in central nervous system (CNS) autoimmune inflammation is unclear. To study this further, we transplanted astrocyte aggregates into the anterior eye chamber of the mouse. The astrocytic nature of these transplants was confirmed by immunohistochemical detection of glial fibrillary acidic protein and the inability to detect oligodendrocyte or microglial markers. When mice bearing transplants were induced to develop experimental allergic encephalomyelitis by either passive or active protocols, the astrocyte transplants developed a perivascular inflammatory response similar to that seen in the host CNS during the course of the encephalomyelitis. The data suggest that astrocytes could serve as targets for the autoimmune attack of experimental allergic encephalomyelitis and support the possibility that the pathogenesis of this disease may involve an autoimmune reaction against a site other than the myelin sheath.