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Pediatric Neurology

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https://www.readbyqxmd.com/read/27876177/the-evolution-of-child-neurology-training
#1
LETTER
Donna M Ferriero, Scott L Pomeroy
No abstract text is available yet for this article.
November 18, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27908656/child-neurology-residency-finding-the-right-fit
#2
Jonathan D Santoro, Paul G Fisher
No abstract text is available yet for this article.
November 1, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27919468/somatic-gnaq-mutation-is-enriched-in-brain-endothelial-cells-in%C3%A2-sturge-weber-syndrome
#3
Lan Huang, Javier A Couto, Anna Pinto, Sanda Alexandrescu, Joseph R Madsen, Arin K Greene, Mustafa Sahin, Joyce Bischoff
BACKGROUND: Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial and extracraniofacial capillary malformations and capillary-venule malformations in the leptomeninges. A somatic mosaic mutation in GNAQ (c.548G>A; p.R183Q) was found in SWS brain and skin capillary malformations. Our laboratory showed endothelial cells in skin capillary malformations are enriched for the GNAQ mutation. The purpose of this study is to determine whether the GNAQ mutation is also enriched in endothelial cells in affected SWS brain...
October 21, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27867040/epilepsy-in-melas
#4
LETTER
Josef Finsterer, Sinda Zarrouk-Mahjoub
No abstract text is available yet for this article.
October 19, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27867041/infantile-epileptic-encephalopathy-associated-with-scn2a-mutation-responsive-to-oral-mexiletine
#5
Laura A Foster, Maria R Johnson, John T MacDonald, Peter I Karachunski, Thomas R Henry, David R Nascene, Brian P Moran, Gerald V Raymond
BACKGROUND: Genetic alterations are significant causes of epilepsy syndromes; especially early-onset epileptic encephalopathies and voltage-gated sodium channelopathies are among the best described. Mutations in the SCN2A subunit of voltage-gated sodium channels have been associated with benign familial neonatal-infantile seizures, generalized epilepsy febrile seizures plus, and an early-onset infantile epileptic encephalopathy. METHOD: We describe two infants with medically refractory seizures due to a de novo SCN2A mutation...
October 18, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27908655/neuroimaging-abnormalities-in-a-child-with-infantile-spasms-on-high-dose-vigabatrin
#6
Lisa R Sun, Thangamadhan Bosemani, Constance L Smith-Hicks
No abstract text is available yet for this article.
October 13, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27843091/cause-of-death-in-children-with-mitochondrial-diseases
#7
Soyong Eom, Ha Neul Lee, Sunho Lee, Hoon-Chul Kang, Joon Soo Lee, Heung Dong Kim, Young-Mock Lee
BACKGROUND: We investigated the clinical characteristics that represent risk factors for death in pediatric patients with mitochondrial diseases. METHODS: The medical records of mitochondrial disease pediatric patients attended between 2006 and 2015 (n = 221) were reviewed for clinical characteristics, diagnosis, hospitalization, follow-up, survival, and cause of death. RESULTS: The global mortality rate in the cohort was 14% (average age at death, six years)...
October 13, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27836566/anti-n-methyl-d-aspartate-receptor-encephalitis-and-risk-of-neuroleptic-malignant-syndrome
#8
LETTER
Stanley N Caroff, Stephan C Mann, E Cabrina Campbell
No abstract text is available yet for this article.
October 13, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27913085/anti-n-methyl-d-aspartate-receptor-encephalitis-and-rasmussen-like-syndrome-an-association
#9
Kevin Gurcharran, Shefali Karkare
BACKGROUND: N-methyl-D-aspartate (NMDA) receptor encephalitis is an immune-mediated condition that has a broad spectrum of manifestations, including seizures, coma, psychosis, and focal neurological deficits. Although usually a diffuse process, unihemispheric involvement mimicking early stages of Rasmussen encephalitis can occur. Rasmussen's encephalitis is a unique syndrome characterized by progressive hemiplegia, drug-resistant focal epilepsy, cognitive decline, and hemispheric brain atrophy contralateral to the hemiplegia...
October 11, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27894817/training-in-fetal-neonatal-neurology-principles-to-guide-practice-for-career-long-learning
#10
Mark Scher
No abstract text is available yet for this article.
October 11, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27876179/prevalence-and-risk-factors-of-peri-ictal-autonomic-changes-in-children-with-temporal-lobe-seizures
#11
Mark Whealy, Elaine Wirrell, Lily Wong-Kisiel, Katherine Nickels, Eric T Payne
BACKGROUND: We determined the prevalence of signs and symptoms of autonomic dysfunction in seizures of temporal lobe onset in children. METHODS: We evaluated the prevalence and risk factors of peri-ictal autonomic changes in temporal lobe onset seizures in children from a single-center pediatric epilepsy monitoring unit between June 1, 2009 and October 31, 2013. Age, gender, epilepsy etiology, current antiepileptic drug therapy, ictal electroencephalographic lateralization, brain magnetic resonance imaging results, and the presence of generalized tonic-clonic seizures over the preceding year were recorded from medical record review...
October 11, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27839824/undiagnosed-coarctation-of-the-aorta-and-cerebral-infarction
#12
Gurcharanjeet Kaur, Robert G Peyster, Louis N Manganas
No abstract text is available yet for this article.
October 11, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27823842/cerebral-sinovenous-thrombosis-in-the-asphyxiated-cooled-infants-a-prospective-observational-study
#13
Maurizio Radicioni, Vittorio Bini, Pietro Chiarini, Ambra Fantauzzi, Francesca Leone, Raffaella Scattoni, Pier Giorgio Camerini
BACKGROUND: Cerebral sinovenous thrombosis is unusual in the asphyxiated cooled infants, but reliable data regarding the incidence of this comorbidity are lacking. We assessed the incidence of sinovenous thrombosis in a population of asphyxiated cooled infants by performing routine brain magnetic resonance venography. METHODS: All asphyxiated infants who underwent therapeutic cooling at our institution completed brain magnetic resonance venography after rewarming...
October 6, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27839823/significance-of-bdnf-val66met-polymorphism-in-brain-plasticity-of-children
#14
LETTER
Kenneth A Myers, Haley A Vecchiarelli, Omar Damji, Matthew N Hill, Adam Kirton
No abstract text is available yet for this article.
October 3, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27816307/mtor-inhibition-mitigates-molecular-and-biochemical-alterations-of-vigabatrin-induced-visual-field-toxicity-in-mice
#15
Kara R Vogel, Garrett R Ainslie, Michelle A Schmidt, Jonathan P Wisor, K Michael Gibson
BACKGROUND: Gamma-vinyl-γ-aminobutyric acid (GABA) (vigabatrin) is an antiepileptic drug and irreversible GABA transaminase inhibitor associated with visual field impairment, which limits its clinical utility. We sought to relate altered visual evoked potentials associated with vigabatrin intake to transcriptional changes in the mechanistic target of rapamycin (mTOR) pathway and GABA receptors to expose further mechanisms of vigabatrin-induced visual field loss. METHODS: Vigabatrin was administered to mice via an osmotic pump for two weeks to increase GABA levels...
October 3, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27773421/dominant-transmission-observed-in-adolescents-and-families-with-orthostatic-intolerance
#16
Jennifer E Posey, Rebecca Martinez, Jeremy E Lankford, James R Lupski, Mohammed T Numan, Ian J Butler
BACKGROUND: Orthostatic intolerance is typically thought to be sporadic and attributed to cerebral autonomic dysfunction. We sought to identify families with inherited autonomic dysfunction manifest as symptomatic orthostatic intolerance to characterize mode of inheritance and clinical features. METHODS: Sixteen families with two or more first- or second-degree relatives with autonomic dysfunction and orthostatic intolerance were enrolled. A clinical diagnosis of autonomic dysfunction defined by symptomatic orthostatic intolerance diagnosed by head-up tilt table testing was confirmed for each proband...
September 24, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27765471/cerebral-proliferative-angiopathy
#17
Victoria Karian, Jonathan Rabner, Alyssa LeBel
No abstract text is available yet for this article.
September 24, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27789116/risks-and-benefits-of-rituximab-in-the-treatment-of-hashimoto%C3%A2-encephalopathy-in-children-two-case-reports-and-a-mini-review
#18
REVIEW
Annemieke Maas, Kees P J Braun, Karin Geleijns, Floor E Jansen, Annet van Royen-Kerkhof
: Hashimoto encephalopathy is a rare condition, characterized by the association of encephalopathy with a variety of neurological symptoms and autoantibodies to the thyroid gland. Its etiology is unknown, and symptoms are usually treated with immune suppressive therapy, e.g., high doses of corticosteroids. METHODS AND RESULTS: Here, we report the long-term outcome in two steroid-refractory adolescents with Hashimoto encephalopathy who were treated with rituximab, a monoclonal antibody directed against CD20...
September 20, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27847180/outcome-and-cost-of-inpatient-hospitalization-for-intravenous-dihydroergotamine-treatment-of-refractory-pediatric-headache
#19
Gary R Nelson, James F Bale, Lynne M Kerr
BACKGROUND: To determine the cost and efficacy of admitting patients for intravenous dihydroergotamine treatment and to identify factors associated with a higher likelihood of response to treatment. METHODS: We performed a retrospective review of all pediatric hospitalizations from 2001 to 2010 for intravenous dihydroergotamine therapy for headache. Data were collected using the REDcap database and consisted of multiple variables, including preadmission demographics, headache duration, use of prophylactic medications, inpatient therapies including dihydroergotamine dosing, procedures, consultations, total hospital cost, and headache severity at discharge and at follow-up...
September 19, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27769729/willingness-to-pay-for-a-newborn-screening-test-for-spinal-muscular-atrophy
#20
Pei-Jung Lin, Wei-Shi Yeh, Peter J Neumann
OBJECTIVES: The current US mandatory newborn screening panel does not include spinal muscular atrophy, the most common fatal genetic disease among children. We assessed population preferences for newborn screening for spinal muscular atrophy, and how test preferences varied depending on immediate treatment implications. METHODS: We conducted an online willingness-to-pay survey of US adults (n = 982). Respondents were asked to imagine being parents of a newborn...
September 15, 2016: Pediatric Neurology
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