bluuebunny/crossref_metadata_2025_split huggingface dataset:
Neuron loss localizes human temporal lobe epilepsy by in vivo proton magnetic resonance spectroscopic imaging
Authors: Hugg James W. , Laxer Kenneth D. , Matson Gerald B. , Maudsley Andrew A. , Weiner Michael W. 
Published: January 2005

AbstractTemporal lobe epileptogenic foci were blindly localized in 8 patients with medically refractory unilateral complex partial seizures using noninvasive in vivo proton magnetic resonance spectroscopic imaging (1H‐MRSI) with 4‐ml effective voxel size. The brain proton metabolite signals in 8 matched normal controls were bilaterally symmetrical within ± 10%. The hippocampal seizure foci had 21 ± 5% less N‐acetyl aspartate signal than the contralateral hippocampal formations (p < 0.01). The focal N‐acetyl aspartate reductions were consistent with pathology findings of mesial temporal sclerosis with selective neuron loss and gliosis in the surgically resected epileptogenic foci. Proton MRSI correctly localized the seizure focus in all 8 cases. By comparison, MR imaging correctly localized 7 of 8 cases and single photon emission computed tomography correctly localized 2 of 5 cases. No lactate was detected in these interictal studies. No significant changes in choline or creatine were observed. In conclusion, 1H‐MRSI is a useful tool for the noninvasive clinical assessment of intractable focal epilepsy. These preliminary results suggest that 1H‐MRSI can accurately localize temporal lobe epileptogenic foci.
Site of autonomic deficit in Harlequin syndrome: Local autonomic failure affecting the arm and the face
Authors: Drummond Peter D. , Lance James W. 
Published: January 2005

AbstractThe site of autonomic deficit was investigated in 4 patients with loss of thermoregulatory flushing and sweating on one side of the face but no associated miosis (harlequin syndrome). In 2 patients the sudomotor deficit included the hand. Signs of postganglionic sympathetic deficit included pathological lacrimal sweating (2 patients) and supersensitivity to 1% phenylephrine eyedrops (3 patients). One or both pupils constricted excessively to 0.0625% pilocarpine eyedrops (3 patients), consistent with ocular parasympathetic deficit. These findings suggest that pre‐ or postganglionic cervical sympathetic fibers, and parasympathetic neurons in the ciliary ganglia, are compromised in harlequin syndrome. The finding of cholinergic supersensitivity in the iris muscles of patients with harlequin syndrome indicates a relationship with Holmes‐Adie syndrome, Ross's syndrome, and the persistent autonomic deficit occasionally associated with Guillain‐Barré syndrome.
Expression of immunologically relevant endothelial cell activation antigens on isolated central neurvous system microvessels from patients with multiple sclerosis
Authors: Washington Ruth , Burton Jeffrey , Todd Robert F. , Newman Walter , Dragovic Ljubisa , Dore‐Duffy Paula 
Published: January 2005

AbstractActivation of the vascular endothelium is thought to be an important facet of inflammation, thrombosis, and vasculitis. Activated endothelial cells express a number of immunologically relevant surface markers not expressed by normal endothelial cells. Many of these surface antigens are thought to augment adhesion reactions and migration. Our results show that endothelial activation may play a centrla role in the pathogenesis of multiple sclerosis (MS). Normal human central nervous system microvessels isolated from autopsy material do not express endothelial cell activation markers, including the adhesion proteins vascular cell adhesion molecule‐1 (VCAM‐1) and endothelial cell leukocyte adhesion molecule‐1 (E‐selectin/ELAM‐1). They exhibit little to no constitutive expression of immunoreactive intercellular adhesion molecule‐1 (ICAM‐1) or the urokinase plasminogen activator receptor. Control microvessels exhibit no major histocompatibility complex (MHC) class II antigen. MS microvessels express significant levels of MHC class II antigens, ICAM‐1, VCAM‐1, and urokinase plasminogen activator receptor. E‐selectin was expressed by 3 of 5 MS brains tested. Histologically unaffected areas of MS brain expressed less VCAM‐1, ICAM‐1, and E‐selectin than did microvessels from periplaque zones. However, MHC class II antigens and urokinase plasminogen activator receptor were increased in areas exhibiting little to no evidence of leukocyte infiltration. When microvessels were examined for dual expression of activation markers, we found that in periplaque areas, 50% of microvessels coexpressed HLA‐Dr. and VCAM‐1, 28% of microvessels coexpressed HLA‐Dr. and urokinase plasminogen activator receptor, and 43% of microvessels coexpressed HLA‐Dr. and ICAM‐1.
Distal vacuolar myopathy in nephropathic cystinosis
Authors: Charnas Lawrence R. , Luciano Carlos A. , Dalakas Marinos , Gilliatt Roger W. , Bernardini Isa , Ishak Kamal , Cwik Valerie A. , Fraker Douglas , Brushart Thomas A. , Gahl William A. 
Published: January 2005

AbstractNephropathic cystinosis is a lysosomal storage disorder leading to renal failure by age 10 years. Prolonged patient survival following renal transplantation has allowed the development of previously unknown long‐term complications. Muscle involvement has been reported in a single posttransplant cystinosis patient, but the range of clinical, electrophysiologic, and histologic features has not been fully described. Thirteen of 54 post–renal‐transplant patients that we examined developed weakness and wasting in the small hand muscles, with or without facial weakness and dysphagia. Tendon reflexes were preserved and sensory examinations were normal. Electrophysiologic studies in 11 affected patients showed normal nerve conduction velocities and preserved sensory action potentials. The voluntary motor units in the affected distal muscles had reduced amplitude and brief duration, confirmed with quantitative electromyography in 4 patients. Biopsy of the severely affected abductor digiti minimi or extensor carpi radialis brevis muscles in 2 patients revealed marked fiber size variability, prominent acid phosphatase–positive vacuoles, and absence of fiber type grouping or inflammatory cells. Crystals of cystine were detected in perimysial cells but not within the muscle cell vacuoles. The muscle cystine content of clinically affected muscles was markedly elevated. We conclude that a distal vacuolar myopathy is a common late complication of untreated nephropathic cystinosis. Although the cause is unclear, the general lysosomal defect in this disease may also affect the lysosomes within muscle fibers.
Myotonic dystrophy with no trinucleotide repeat expansion
Authors: Thornton Charles A. , Griggs Robert C. , Moxley Richard T. 
Published: January 2005

AbstractWe report 3 patients from 2 families with myotonic dystrophy who do not show an abnormal expansion of CTG trinucleotide repeats within the myotonic dystrophy gene. Characteristic features of myotonic dystrophy in these patients were frontal balding, cataracts, cardiac conduction abnormalities, and testicular atrophy with myotonia and muscle weakness. Results of muscle histopathology were consistent with myotonic dystrophy. Genetic analysis of leukocyte and muscle DNA showed a normal number of CTG repeats. The demonstration of normal CTG repeat number for the myotonic dystrophy gene does not exclude the diagnosis of myotonic dystrophy.
Anti‐myelin basic protein and anti‐proteolipid protein specific forms of multiple sclerosis
Authors: Warren Kenneth G. , Catz Ingrid , Johnson Edward , Mielke Bruce 
Published: January 2005

AbstractHuman myelin basic protein (hMBP) and proteolipid protein (PLP) were used as antigens in a solid‐phase radioimmunoassay to determine relative frequencies of anti‐MBP and anti‐PLP in cerebrospinal fluid (CSF) of optic neuritis and multiple sclerosis (MS) patients. Forty‐nine of 55 patients with optic neuritis had increased CSF anti‐MBP and the remaining 6 had increased anti‐PLP. Of 385 MS patients, MS relapse: 173 of 180 patients had increased anti‐MBP, 5 of the remaining 7 patients had elevated anti‐PLP, and 2 had neither of these autoantibodies. Progressive MS: 111 of 116 patients had increased anti‐MBP in either free and/or bound form, of the remaining 5 patients 4 had increased anti‐PLP, and 1 had neither anti‐MBP nor anti‐PLP. MS remission: 15 of 87 patients had somewhat increased anti‐MBP, none had anti‐PLP. IgG was purified by affinity chromatography from necropsy central nervous system (CNS) tissue samples of 4 individual patients with clinically definite and neuropathologically confirmed MS. Three of these 4 patients who had increased levels of CSF anti‐MBP also had increased anti‐MBP titers in CNS tissue‐extracted IgG. The fourth patient who had anti‐PLP in CSF also had anti‐PLP in brain tissue IgG. These autoantibodies were not detected simultaneously in any patient. These results suggest that there are at least two immunologically distinct forms of MS, i.e., a common form highly associated with anti‐MBP and more frequent prominent inflammatory characteristics in CSF and CNS, and an infrequent form associated with anti‐PLP in CSF and tissue, and less abundant inflammation. Anti‐MBP purified from CNS tissue IgG by antigen‐specific affinity chromatography was reacted with synthetic peptides of hMBP. The anti‐MBP epitope on the hMBP molecule was restricted between residues 75 and 106. The PLP epitope for anti‐PLP has not as yet been determined. These observations have theoretical implications for anticipated future specific immunotherapy of MS.
Peripheral neuropathy from taxol and cisplatin combination chemotherapy: Clinical and electrophysiological studies
Authors: Chaudhry Vinay , Rowinsky Eric K. , Sartorius Susan E. , Donehower Ross C. , Cornblath David R. 
Published: January 2005

AbstractTaxol is a novel antineoplastic agent that has demonstrated impressive clinical activity in breast, ovarian, lung, and head and neck cancers. This broad antitumor activity of taxol in cisplatin‐sensitive tumors suggests that the combination of taxol and cisplatin may become one of the most commonly used taxol‐based chemotherapeutic regimen in the treatment of solid tumors. Both taxol and cisplatin, however, are neurotoxic. To study the neurotoxic effects of these two agents when used in combination, we prospectively evaluated neurological function at baseline, during, and following treatment, in 21 cancer patients treated with taxol (135–350 mg/m2), cisplatin (75–100 mg/m2), and granulocyte‐colony stimulating factor (5μ/kg). Twenty of the 21 patients (95%) developed a sensory–motor neuropathy 1 to 21 weeks after the initiation of therapy, that was progressive with each additional course of chemotherapy. The neuropathy was symmetrical, length dependent, axonal in nature by physiological studies, and more pronounced in those patients who received higher doses of taxol. The neuropathy appeared earlier and at lower taxol doses in those patients with preexisting neuropathies. We conclude that sensory–motor neuropathy is a frequent dose‐dependent toxicity of combined cisplatin and taxol use. Peripheral neuropathy is likely to become the major dose‐limiting toxicity of taxol–cisplatin combination chemotherapy when higher doses of these agents are administered with granulocyte‐colony stimulating factor.
Vestibular cortex lesions affect the perception of verticality
Authors: Brandt Th. , Dieterich M. , Danek A. 
Published: January 2005

AbstractSeventy‐one patients with unilateral supratentorial infarctions were evaluated with respect to static vestibular function in the roll plane, including determinations of the subjective visual vertical, skew deviation, and ocular torsion. Since animal studies have revealed at least four different areas of the parietal and temporal cortex involved in vestibular function, we tried to identify cortical areas in humans responsible for vestibular function in the roll plane. Infarcted areas, as demonstrated in magnetic resonance and computed tomography scans, were projected onto the appropriate sections of an atlas of the human brain. Infarctions in the territories of the posterior and anterior cerebral arteries did not affect static vestibular function in roll. Twenty‐three of 52 patients with infarctions in the middle cerebral artery territory showed significant (p < 0.0005), mostly contraversive, pathological subjective visual vertical tilts. The overlapping area of these infarctions centered on the posterior insula, probably homologous to the parieto‐insular vestibular cortex in the monkey. Although electrophysiological and cytoarchitectonic data in animals demonstrate several multisensory areas rather than a single primary vestibular cortex, the parieto‐insular vestibular cortex seems to represent the integration center of the multisensory vestibular cortex areas within the parietal lobe.
Zidovudine‐induced mitochondrial myopathy is associated with muscle carnitine deficiency and lipid storage
Authors: Dalakas Marinos C. , Leon‐Monzon Marta E. , Bernardini Isa , Gahl William A. , Jay Cheryl A. 
Published: January 2005

AbstractThe use of zidovudine (AZT) for the treatment of acquired immunodeficiency syndrome (AIDS) induces a DNA‐depleting mitochondrial myopathy, which is histologically characterized by the presence of muscle fibers with “ragged‐red”–llike features, red‐rimmed or empty cracks, granular degeneration, and rods (AZT fibers). Because dysfunctioning muscle mitochondria may lead to defects of β‐oxidation of fatty acids, we examined the degree of neutral fat accumulation and muscle carnitine levels in the muscle biopsy specimens from 21 patients with AZT‐induced myopathic symptoms of varying severity. Six patients with no AZT fibers had normal endomyofibrillar lipid deposits and muscle carnitine levels; 7 patients with fewer than 5 AZT fibers per field had a mild (+) to moderate (++) increase in lipid droplets, and reduced muscle carnitine levels (3 patients); and 8 patients with more than 5 AZT fibers had severe muscle changes, a ++ to marked (+++) increase in lipid droplets, and reduced muscle carnitine levels (6 patients). Serial sections showed lipid globules often within “cracks” or vacuoles of the abnormal muscle fibers. We conclude that the muscle mitochondrial impairment caused by AZT results in (1) accumulation of lipid within the muscle fibers owing to poor utilization of long‐chain fatty acids, (2) reduction of muscle carnitine levels probably due to decreased carnitine uptake by the muscle, and (3) depletion of energy stores within the muscle fibers. The findings may have potential therapeutic implications in the treatment of AZT‐induced myopathic symptoms using oral carnitine supplementation.
Sequences of memory‐guided saccades in Parkinson's disease
Authors: Vermersch Anne‐Isabelle , Rivaud Sophie , Vidailhet Marie , Bonnet Anne‐Marie , Gaymard Bertrand , Agid Yves , Pierrot‐Deseilligny Charles 
Published: January 2005

AbstractSequences of ocular saccades were studied in 8 patients with Parkinson's disease, with (i.e., “on”) and without (i.e., “off”) levodopa treatment. The amplitude of single saccades was decreased and not improved by treatment. The chronology of saccades during sequences was impaired in patients in the “off” state, but significantly improved during the “on” period. These results are compatible with a decreased activation of the supplementary motor area, which can be reversed by levodopa.
Dopamine transporter messenger RNA in Parkinson's disease and control substantia nigra neurons
Authors: Uhl George R. , Walther Donna , Mash Deborah , Faucheux Baptiste , Javoy‐Agid France 
Published: January 2005

AbstractDopamine transporter messenger RNA (mRNA) expression was assessed by in situ hybridization over individual pigmented neurons from the substantia nigra pars compacta in midbrain sections from 7 parkinsonian and 7 age‐matched, neurologically normal patients. In the normal control brains, high levels of expression of dopamine transporter mRNA were noted over pigmented neurons in the substantia nigra pars compacta; neurons in the adjacent nucleus paranigralis of the ventral tegmental area displayed less hybridization. Nigra compacta neurons surviving in brains of patients with Parkinson's disease displayed only 57% of the dopamine transporter mRNA hybridization intensity displayed by nigral neurons in normal control brains. The disease‐related decrease in the apparent level of dopamine transporter mRNA expression in remaining neurons could reflect neuronal dysfunction. Conceivably, it might also reflect differential vulnerability of those neurons that initially expressed higher levels of this transporter to the insult of parkinsonism.
Early weight loss and high serum tumor necrosis factor‐α levels in polyneuropathy, organomegaly, endocrinopathy, M protein, skin changes syndrome
Authors: Gherardi R. K. , Chouaïb S. , Malapert D. , Bélec L. , Intrator L. , Degos J.‐D. 
Published: January 2005

AbstractWe studied tumor necrosis factor‐α (TNF‐α) levels in serial serum samples from 3 consecutive patients who had a complete form of POEMS (polyneuropathy, organomegaly, endocrinopathy, M protein, skin changes) syndrome and early weight loss. Serum TNF‐α levels were compared with those of 10 patients with multiple my eloma (5) or Waldenström's macroglobulinemia (5). Elevated serum levels of TNF‐α were found in the patients with POEMS syndrome (two‐ to eightfold increase in 10 of 11 samples) and not in those with other malignant plasma cell dyscrasias. These results are in keeping with the hypothesis of a role for nonimmunoglobulinic mediators in the pathogenesis of the POEMS syndrome, and are consistent with previous reports of TNF‐α overproduction in inflammatory demyelinating neuropathies and cachectic states.
Discontinuing antiepileptic drugs in children with epilepsy: A prospective study
Authors: Shinnar Shlomo , Berg Anne T. , Moshé Solomon L. , Kang Harriet , O'Dell Christine , Alemany Marta , Goldensohn Eli S. , Allen Hauser W. 
Published: January 2005

AbstractIn a prospective study, antiepileptic drugs were discontinued in 264 children with epilepsy after a mean seizure‐free interval of 2.9 years. They were then followed for a mean of 58 months to ascertain whether seizures recurred. Seizures recurred in 95 (36%) of the children. Etiology was a significant predictor of outcome (relative risk [RR] = 1.81). On multivariable analysis, significant factors in the idiopathic group included age at onset above 12 years (RR = 5.4), a family history of seizures (RR = 3.1), the presence of slowing on the electroencephalogram prior to medication withdrawal (RR = 2.4), and a history of atypical febrile seizures (RR = 2.8). Specific epileptic syndromes such as juvenile myoclonic epilepsy and benign rolandic epilepsy were also significant predictors of outcome. In the remote symptomatic group, significant predictors of outcome included age at onset older than 12 years (RR = 3.6), moderate to severe mental retardation (IQ < 50) (RR = 2.8), a history of atypical febrile seizures (RR = 2.0), and a history of absence seizures (RR = 0.4). The majority of children with epilepsy in remission while on antiepileptic drug therapy will remain seizure free when medications are withdrawn. A few readily available parameters distinguish those with a good prognosis from those in whom seizures are likely to recur. These data provide the framework for the clinical decision making for withdrawal of medications in these children.
Astasia and gait failure with damage of the pontomesencephalic locomotor region
Authors: Masdeu Joseph C. , Alampur Uma , Cavaliere Rossella , Tavoulareas George 
Published: January 2005

AbstractAlthough there is evidence in experimental animals of the importance of the pedunculopontine area in locomotion, clinical lesion reports are lacking. An 83‐year‐old woman became unable to stand and to generate stepping movements after a hemorrhage at the pontomesencephalic junction involving the right pedunculopontine area. Her deficit resembled the gait failure present in some elderly individuals.
The functional organization of the hippocampal dentate gyrus and its relevance to the pathogenesis of temporal lobe epilepsy
Authors: Sloviter Robert S. 
Published: January 2005

AbstractTemporal lobe seizures are frequently associated with a characteristic pattern of hippocampal pathology (hippocampal sclerosis), as well as pathology in other temporal lobe structures. Despite more than a century of study, the relationship between pathology and epileptogenesis remains unclear. Endfolium sclerosis, which is characterized by the loss of dentate hilar neurons that are presumed to govern dentate granule cell excitability, is evident whenever hippocampal sclerosis exists and is the only temporal lobe pathology in some patients. Because prolonged seizures or head trauma produce endfolium sclerosis and granule cell hyperexictability in experimental animals, hilar neuron loss may be the common pathological denominator and primary network defect underlying development of a hippocampal seizure “focus.” Physiological studies suggest that vulnerable hilar mossy cells normally excite neurons that mediate granule cell inhibition. Recent anatomical studies indicate that the axons of mossy cells project longitudinally, out of the lamellar plane in which their cell bodies lie. If mossy cells in one lamella excite inhibitory neurons in surrounding lamellae, neocortical excitation of one segment of the granule cell layer may produce lateral inhibition and limit neocortical excitation to the targeted lamella. In patients who have had status epilepticus, prolonged febrile seizures, head trauma, or encephalitis, loss of dentate mossy cells may deafferent inhibitory neurons, render them “dormant,” and thereby disinhibit an encephalitis, loss of dentate mossy cells may deafferent inhibitory neurons, render them “dormant,” and thereby disinhibit an enlarged expanse of the granule cell layer. The selective loss of neurons that normally govern lateral inhibition in the dentate gyrus may cause functional delamination of the granule cell layer and result in synchronous, multilamellar discharges in response to cortical stimuli. Repetitive seizures may ultimately produce the full pattern of hippocampal and mesial temporal sclerosis by destroying cells within the seizure circuit that were not injured irreversibly by the initial insult. Thus, hippocampal pathology may be both the cause and effect of seizures that originate in the temporal lobe.
The prevalence of narcolepsy: An epidemiological study of the Finnish Twin Cohort
Authors: Hublin Christer , Kaprio Jaakko , Partinen Markku , Koskenvuo Markku , Heikkila Kauko , Koskimies Saija , Guilleminault Christian 
Published: January 2005

AbstractWe investigated the prevalence of narcolepsy using a well‐defined white population previously used for epidemiological investigations: the Finnish Twin Cohort. The Cohort consists of 13,888 monozygotic and dizygotic twin pairs born before 1958. There were 16,179 individuals who participated in the study, with a 77.3% response rate. The study methodolgy included a questionnaire covering sleep and alertness, the Ullanlinna Narcolepsy Scale (UNS), a scale specifically developed and tested for the study, telephone interviews, and finally, clinical evaluation, polygraphic recording, and HLA blood typing. Seventy‐five subjects were selected for telephone interviews and laboratory evaluations based on data from both questionnaires. Five of them were strongly suspected of narcolepsy, but laboratory data identified only 3. All were dizygotic (fraternal) twins discordant for the disease with a negative family history and presence of DR2 DQw1 (i.e., DRw15 DQw6, new World Health Organization classification). The prevalence of narcolepsy in the Finnish population is 0.026% (95% confidence interval, 0.0–0.06). This prevalence is lower than that reported in studies performed without polygraphic recording and is close to that reported in 1945 in the black U.S. population. The tools developed to perform this study, the largest population study of its kind yet performed, can now be used for other population investigations.