Evidence report: Genetic and metabolic testing on children with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society.

abstract：:We carried out an open study of the effects of large doses (12 to 16 gm per day) of oral choline on medically intractable human complex partial seizures (CPS). Marked increases of plasma choline concentration (75 to 300%) in three subjects were associated with (1) shorter duration of CPS, (2) less postseizure fatigue,...

journal_title：Neurology

authors： McNamara JO,Carwile S,Hope V,Luther J,Miller P

更新日期：1980-12-01 00:00:00

abstract：:Sphingosine 1-phosphate receptors (S1PRs) are G protein-coupled receptors expressed by many cell types, including immune and neural cells. These receptors are promising targets for immunomodulatory and possibly neuromodulatory therapies. Fingolimod (FTY720) is a sphingosine analog that, when phosphorylated, becomes a ...

journal_title：Neurology

authors： Soliven B,Miron V,Chun J

更新日期：2011-02-22 00:00:00

abstract：:A term neonate was being treated with intravenous phenytoin. To maintain a serum level above 10 micrograms per milliliter and abolish seizure activity, it was necessary to carry out repeated serum concentration measurements, administer several loading doses, and administer an unusually large maintenance dose (25 mg pe...

journal_title：Neurology

authors： Whelan HT,Hendeles L,Haberkern CM,Neims AH

更新日期：1983-01-01 00:00:00

abstract：BACKGROUND:Previous studies link posterior border-zone cerebral infarcts between the middle cerebral artery (MCA) and the posterior cerebral artery (PCA) to hemodynamic causes, not embolism. OBJECTIVE:To study the cause of these infarcts. METHODS:We studied 21 patients (unilateral = 18, bilateral = 3) with acute, sym...

journal_title：Neurology

authors： Belden JR,Caplan LR,Pessin MS,Kwan E

更新日期：1999-10-12 00:00:00

abstract：OBJECTIVE:To analyze the oral motor, speech, and language phenotype in 20 children and adults with Dravet syndrome (DS) associated with mutations in SCN1A. METHODS:Fifteen verbal and 5 minimally verbal DS patients with SCN1A mutations (aged 15 months-28 years) underwent a tailored assessment battery. RESULTS:Speech w...

journal_title：Neurology

authors： Turner SJ,Brown A,Arpone M,Anderson V,Morgan AT,Scheffer IE

更新日期：2017-02-21 00:00:00

abstract：:Three neuropathologists evaluated brain sections from 43 aged subjects for the presence of Alzheimer's disease. Moderate-to-substantial agreement was obtained. After discussion of disparate diagnoses, agreement was almost perfect for standardized and substantial for personal criteria. We conclude that reproducibility ...

journal_title：Neurology

authors： Paulus W,Bancher C,Jellinger K

更新日期：1992-02-01 00:00:00

abstract：:The unique case of a baritone with a spinal dural arteriovenous fistula (SDAVF) causing recurrent, acute paraplegia during singing is described. This case underscores the presence of impaired venous drainage in these lesions and the high level of clinical suspicion required for their diagnosis in patients with any mye...

journal_title：Neurology

authors： Khurana VG,Perez-Terzic CM,Petersen RC,Krauss WE

更新日期：2002-04-23 00:00:00

abstract：OBJECTIVE:To revise the 1999 Airlie House consensus guidelines for the design and implementation of preclinical therapeutic studies and clinical trials in amyotrophic lateral sclerosis (ALS). METHODS:A consensus committee comprising 140 key members of the international ALS community (ALS researchers, clinicians, patie...

journal_title：Neurology

authors： van den Berg LH,Sorenson E,Gronseth G,Macklin EA,Andrews J,Baloh RH,Benatar M,Berry JD,Chio A,Corcia P,Genge A,Gubitz AK,Lomen-Hoerth C,McDermott CJ,Pioro EP,Rosenfeld J,Silani V,Turner MR,Weber M,Brooks BR,Miller

更新日期：2019-04-02 00:00:00

abstract：:To evaluate when it is possible to discontinue anticonvulsant treatment in children with cryptogenic partial epilepsy, the authors studied 89 epileptic children divided into two groups: Group A, 45 children whose therapy was discontinued after 1 year from the last seizure; and Group B, 44 children whose therapy was st...

journal_title：Neurology

authors： Verrotti A,Morresi S,Basciani F,Cutarella R,Morgese G,Chiarelli F

更新日期：2000-11-14 00:00:00

abstract：OBJECTIVE:To prospectively investigate the relationships between serum tissue inhibitor metalloproteinase-1 (TIMP-1) and clinical outcomes in patients with acute ischemic stroke. METHODS:We derived data from the China Antihypertensive Trial in Acute Ischemic Stroke. Baseline serum TIMP-1 concentrations were measured i...

journal_title：Neurology

authors： Zhong C,Wang G,Xu T,Zhu Z,Guo D,Zheng X,Wang A,Bu X,Peng H,Chen J,Xu T,Peng Y,Li Q,Ju Z,Geng D,He J,Zhang Y

更新日期：2019-10-29 00:00:00

abstract：OBJECTIVE:To review clinical and electrodiagnostic features of the medial brachial fascial compartment syndrome, a complication of percutaneous axillary vessel puncture. METHODS:The authors reviewed electrodiagnostic examinations over a 20-year period. RESULTS:This syndrome presents with weakness, pain, and numbness ...

journal_title：Neurology

authors： Tsao BE,Wilbourn AJ

更新日期：2003-10-28 00:00:00

abstract：:Two patients with acute onset of profound weakness and loss of muscle bulk during a critical illness had unusual histopathological changes of type II myofibers. Both patients had respiratory failure and prolonged neuromuscular blockade. High-dose steroids were used in only one case and atracurium in the other. Muscle ...

journal_title：Neurology

authors： Gutmann L,Blumenthal D,Gutmann L,Schochet SS

更新日期：1996-03-01 00:00:00

abstract：:Cytokines such as interleukin-1 and tumor necrosis factor are involved in the triggering of the immune response, induction of acute inflammatory events, and transition to, or persistence of, chronic inflammation. The action of proinflammatory cytokines is regulated by their receptor expression, downregulation and shed...

journal_title：Neurology

authors： Burger D,Dayer JM

更新日期：1995-06-01 00:00:00

abstract：OBJECTIVE:To test the diagnostic accuracy of the horizontal head impulse test (h-HIT) of vestibulo-ocular reflex (VOR) function in distinguishing acute peripheral vestibulopathy (APV) from stroke. Most patients with acute vertigo, nausea/vomiting, and unsteady gait have benign APV (vestibular neuritis or labyrinthitis)...

journal_title：Neurology

authors： Newman-Toker DE,Kattah JC,Alvernia JE,Wang DZ

更新日期：2008-06-10 00:00:00

abstract：OBJECTIVE:To examine whether neuropathologic burden is associated with hearing impairment. METHODS:We studied 2,755 autopsied participants ≥55 years of age from the National Alzheimer's Coordinating Center database. Participants had at least 1 clinical evaluation at US National Institute on Aging-funded Alzheimer's Di...

journal_title：Neurology

authors： Brenowitz WD,Besser LM,Kukull WA,Keene CD,Glymour MM,Yaffe K

更新日期：2020-09-22 00:00:00

abstract：:We describe a case of Burkitt's cell acute lymphoblastic leukemia presenting with the bilateral numb chin syndrome as the initial symptom of the disease. Postmortem study of the trigeminal nerve showed heavy infiltrations of leukemic cells and destruction of axon and myelin by leukemic cells in the mandibular nerve. ...

journal_title：Neurology

authors： Kuroda Y,Fujiyama F,Ohyama T,Watanabe T,Endo C,Neshige R,Kakigi R

更新日期：1991-03-01 00:00:00

abstract：BACKGROUND:The pathogenesis of stroke-like episodes in patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) remains unknown. METHODS:Fourteen stroke-like episodes in six patients with MELAS were studied using clinical, neuroradiologic, and electrophysiologic approaches...

journal_title：Neurology

authors： Iizuka T,Sakai F,Suzuki N,Hata T,Tsukahara S,Fukuda M,Takiyama Y

更新日期：2002-09-24 00:00:00

abstract：OBJECTIVE:To characterize disease severity and distribution of disability in pediatric-onset multiple sclerosis (POMS) and to develop an optimized modeling scale for measuring disability, we performed a multicenter retrospective analysis of disability scores in 873 persons with POMS over time and compared this to previ...

journal_title：Neurology

authors： Santoro JD,Waltz M,Aaen G,Belman A,Benson L,Gorman M,Goyal MS,Graves JS,Harris Y,Krupp L,Lotze T,Mar S,Moodley M,Ness J,Rensel M,Rodriguez M,Schreiner T,Tillema JM,Waubant E,Weinstock-Guttman B,Hurtubise BF,Roal

更新日期：2020-09-29 00:00:00

abstract：OBJECTIVE:To report five stroke patients with sensory deficits including prominent chest discomfort mimicking angina. BACKGROUND:Chest wall sensory discomfort, as a part of unilateral sensory dysfunction, has seldom been recognized as a potential imitator of cardiac ischemia. METHODS:A retrospective review of stroke ...

journal_title：Neurology

authors： Gorson KC,Pessin MS,DeWitt LD,Caplan LR

更新日期：1996-02-01 00:00:00

abstract：:The University of Kentucky provides neurologic services to rural children by a traveling clinic. In 1978, 438 children (including 231 new patients) made 646 clinic visits. The primary diagnoses were appropriate for a neurology clinic; epilepsy was the most common (74 of 231) among new patients. A community survey of s...

journal_title：Neurology

authors： Baumann RJ,Leonidakis MG

更新日期：1979-09-01 00:00:00

abstract：OBJECTIVE:Kennedy disease (KD), or spinobulbomuscular atrophy, is a slowly progressive inherited neurodegenerative disorder, marked by prominent fasciculations that typically precede the development of other symptoms. Although the genetic basis of KD relates to triplet (CAG) repeat expansion in the androgen receptor (A...

journal_title：Neurology

authors： Vucic S,Kiernan MC

更新日期：2007-11-06 00:00:00

abstract：:The authors describe an infant with vanishing white matter disease with demyelinating peripheral neuropathy. Sequence analysis of EIF2B5 gene showed that the patient was a double heterozygote, with novel missense mutation CGA-->CAA in codon 269 of exon 6, resulting in the replacement of an arginine residue with glutam...

journal_title：Neurology

authors： Federico A,Scali O,Stromillo ML,Di Perri C,Bianchi S,Sicurelli F,De Stefano N,Malandrini A,Dotti MT

更新日期：2006-07-25 00:00:00

abstract：OBJECTIVE:To determine the influence of all possible imaging strategies on the appropriateness ratings for carotid endarterectomy, because less accurate noninvasive techniques are replacing contrast angiography, which was used in the major efficacy trials. METHODS:An expert panel, using appropriateness methodology, ra...

journal_title：Neurology

authors： Kennedy J,Quan H,Ghali WA,Feasby TE

更新日期：2004-03-23 00:00:00

abstract：BACKGROUND:Structural abnormalities were detected in bilateral primary sensorimotor areas in writer's cramp. Evidence in other primary dystonia, including blepharospasm and cervical dystonia, suggest that structural abnormalities may be observed in other brain areas such as the cerebellum in writer's cramp. OBJECTIVE:...

journal_title：Neurology

authors： Delmaire C,Vidailhet M,Elbaz A,Bourdain F,Bleton JP,Sangla S,Meunier S,Terrier A,Lehéricy S

更新日期：2007-07-24 00:00:00

abstract：OBJECTIVE:To determine whether cardiac magnetic resonance imaging (CMR) could be useful in identifying previously undiagnosed cardiomyopathies in a cohort of patients with ischemic stroke who underwent standard etiologic investigation and to describe the type and frequency of these cardiomyopathies. METHODS:We perform...

journal_title：Neurology

authors： Fonseca AC,Marto JP,Pimenta D,Guimarães T,Alves PN,Inácio N,Viana-Baptista M,Pinho E Melo T,Pinto FJ,Ferro JM,Almeida AG

更新日期：2020-01-07 00:00:00

abstract：OBJECTIVES:To investigate the relationship between markers of vitamin B(12) status and brain volume loss per year over a 5-year period in an elderly population. METHODS:A prospective study of 107 community-dwelling volunteers aged 61 to 87 years without cognitive impairment at enrollment. Volunteers were assessed year...

journal_title：Neurology

authors： Vogiatzoglou A,Refsum H,Johnston C,Smith SM,Bradley KM,de Jager C,Budge MM,Smith AD

更新日期：2008-09-09 00:00:00

abstract：OBJECTIVE:To examine metabolism during exercise in 2 patients with muscle phosphorylase kinase (PHK) deficiency and to further define the phenotype of this rare glycogen storage disease (GSD). METHODS:Patient 1 (39 years old) had mild exercise-induced forearm pain, and EMG showed a myopathic pattern. Patient 2 (69 yea...

journal_title：Neurology

authors： Preisler N,Orngreen MC,Echaniz-Laguna A,Laforet P,Lonsdorfer-Wolf E,Doutreleau S,Geny B,Akman HO,Dimauro S,Vissing J

更新日期：2012-01-24 00:00:00

abstract：:There are multiple difficulties in evaluating new treatments for multiple sclerosis (MS). The clinical diagnosis is imprecise, and the correlation between lesion and clinical dysfunction is incomplete. The neurologic evaluation is complex and lacks full precision. The course of MS is complex and has limited predictabi...

journal_title：Neurology

authors： Brown JR

更新日期：1980-07-01 00:00:00

abstract：:We determined the horizontal and vertical components of brain displacement on coronal MRIs in 10 patients with acute supratentorial masses. The vertical distances from the superior sagittal sinus to the pontomesencephalic junction (PMJ) and from the vertical midline of the brain to the PMJ did not differ from measurem...

journal_title：Neurology

authors： Ropper AH

更新日期：1989-05-01 00:00:00

abstract：OBJECTIVE:To determine the prevalence and incidence of epilepsy among U.S. Medicare beneficiaries aged 65 years old and over, and to compare rates across demographic groups. METHODS:We performed a retrospective analysis of Medicare administrative claims for 2001-2005, defining prevalent cases as persons with ≥1 claim ...

journal_title：Neurology

authors： Faught E,Richman J,Martin R,Funkhouser E,Foushee R,Kratt P,Kim Y,Clements K,Cohen N,Adoboe D,Knowlton R,Pisu M

更新日期：2012-02-14 00:00:00