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Pediatric Neurology

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https://www.readbyqxmd.com/read/28065826/scn2a-p-ala263val-variant-a-phenotype-of-neonatal-seizures-followed-by-paroxysmal-ataxia-in-toddlers
#1
Kathleen Mary Gorman, Mary Dolores King
No abstract text is available yet for this article.
December 8, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/28065823/kcnq2-mutation-explains-the-etiology-of-chloral-hydrate-responsive-ohtahara-syndrome
#2
LETTER
Katalin Štěrbová, Petra Laššuthová, Ivana Perníková, Michal Beran, Jana Neupauerová, Pavel Kršek, Pavel Seeman
No abstract text is available yet for this article.
December 8, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/28034604/leukoencephalopathy-with-6p25-deletion
#3
LETTER
Galen N Breningstall, Richard Patterson, Betsy Hirsch, Bridget Doyle
No abstract text is available yet for this article.
December 5, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/28041656/congenital-cataracts-facial-dysmorphism-and-neuropathy-syndrome-additional-clinical-features
#4
LETTER
Evanthia A Makrygianni, George K Papadimas, George Vartzelis, Maria Georgala, Maria Tzetis, Myrto Poulou, Sophia Kitsiou-Tzeli, Roser Pons
No abstract text is available yet for this article.
November 21, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/28062149/prediction-of-neonatal-seizures-in-hypoxic-ischemic-encephalopathy-using-electroencephalograph-power-analyses
#5
Siddharth V Jain, Amit Mathur, Preethi Srinivasakumar, Michael Wallendorf, Joseph P Culver, John M Zempel
BACKGROUND: The severity of the initial encephalopathy in neonatal hypoxic-ischemic encephalopathy correlates with seizure burden. Early electroencephalograph (EEG) background activity reflects the severity of encephalopathy. Thus, we hypothesized that early EEG background would be predictive of subsequent seizures in neonatal hypoxic-ischemic encephalopathy. METHODS: This study included infants undergoing therapeutic hypothermia at St. Louis Children's Hospital between January 2009 and April 2013...
November 11, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/28089765/intracerebroventricular-delivery-as-a-safe-long-term-route-of-administration
#6
REVIEW
Jessica L Cohen-Pfeffer, Sridharan Gururangan, Thomas Lester, Daniel A Lim, Adam J Shaywitz, Manfred Westphal, Irene Slavc
Intrathecal delivery methods have been used for many decades to treat a broad range of central nervous system disorders. A literature review demonstrated that intracerebroventricular route is an established and well-tolerated method for prolonged central nervous system drug delivery in pediatric and adult populations. Intracerebroventricular devices were present in patients from one to 7156 days. The number of punctures per device ranged from 2 to 280. Noninfectious complication rates per patient (range, 1...
November 10, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27955838/risk-factors-for-diagnostic-delay-in-psychogenic-nonepileptic-seizures-among-children-and-adolescents
#7
Kette D Valente, Ruda Alessi, Silvia Vincentiis, Bernardo Dos Santos, Patricia Rzezak
BACKGROUND: This study aims to analyze a series of pediatric patients with psychogenic nonepileptic seizures (PNES) to establish the diagnostic gap and possible risk factors for the delayed diagnosis in this age group. METHODS: We evaluated all children with PNES documented by video electroencephalography. None had a previous diagnosis of PNES. In total, we included 53 children (interquartile range: 7 to 17 years; mean age 12.81 years [S.D. 3.15]; 60.4% girls) who underwent a protocol consisting of neurological and psychiatric interviews...
November 9, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/28089767/the-correlation-between-a-short-term-conventional-electroencephalography-in-the-first-day-of-life-and-brain-magnetic-resonance-imaging-in-newborns-undergoing-hypothermia-for-hypoxic-ischemic-encephalopathy
#8
Rawad Obeid, Yoshimi Sogawa, Satyanarayana Gedela, Monica Naik, Vince Lee, Richard Telesco, Jessica Wisnowski, Christine Magill, Michael J Painter, Ashok Panigrahy
OBJECTIVE: Electroencephalograph recorded in the first day of life in newborns treated with hypothermia for hypoxic-ischemic encephalopathy could be utilized as a predictive tool for the severity of brain injury on magnetic resonance imaging and mortality. STUDY DESIGN: This work was a retrospective study of newborns who were admitted for therapeutic hypothermia due to hypoxic-ischemic encephalopathy. All enrolled infants underwent encephalography within the first 24 hours of life and underwent brain magnetic resonance imaging after rewarming...
November 3, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27908656/child-neurology-residency-finding-the-right-fit
#9
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/28065825/electroencephalogram-coherence-patterns-in-autism-an%C3%A2-updated-review
#10
REVIEW
Sophie Schwartz, Riley Kessler, Thomas Gaughan, Ashura W Buckley
Electrophysiologic studies suggest that autism spectrum disorder is characterized by aberrant anatomic and functional neural circuitry. During normal brain development, pruning and synaptogenesis facilitate ongoing changes in both short- and long-range neural wiring. In developmental disorders such as autism, this process may be perturbed and lead to abnormal neural connectivity. Careful analysis of electrophysiologic connectivity patterns using EEG coherence may provide a way to probe the resulting differences in neurological function between people with and without autism...
October 28, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/28089766/males-with-mecp2-c-terminal-related-atypical-rett-syndromes-and-their-carrier-mothers
#11
Gabriel M Ronen, Lauren I Brady, Mark A Tarnopolsky
BACKGROUND: This communication examines the expanding phenotypes of the MECP2 C-terminal atypical Rett syndromes in males and their affected carrier mothers. DESCRIPTIONS: We describe three males with normal karyotypes who presented with congenital evolving complex neurodevelopmental encephalopathies with multifaceted symptomatology of hypotonia, epilepsy, ataxia, spasticity, movement disorders, behavioral issues, severe intellectual impairment, and communication skills, and a protracted regression phase followed by stabilization...
October 25, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/28043398/col4a1-mutation-in-a-neonate-with-intrauterine-stroke-and-anterior-segment-dysgenesis
#12
Shaheen Durrani-Kolarik, Kandamurugu Manickam, Bernadette Chen
BACKGROUND: COL4A1 on chromosome 13q34 encodes the alpha 1 chain of type IV collagen, a component of basal membranes. It is expressed mainly in the brain, muscles, kidneys, and eyes. COL4A1 mutations can remain asymptomatic or cause devastating disease. Neonates and children may present with porencephaly, intracerebral hemorrhage, or hemiparesis, whereas adults tend to develop intracranial aneurysms or retinal arteriolar tortuosities. PATIENT DESCRIPTION: We describe a term infant with encephalomalacia, extensive intrauterine stroke and anterior segment dysgenesis with a de novo mutation in COL4A1...
January 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/27955837/child-neurology-recruitment-and-training-views-of-residents-and-child-neurologists-from-the-2015-aap-cns-workforce-survey
#13
Donald L Gilbert, Paul S Horn, Peter B Kang, Mark Mintz, Sucheta M Joshi, Holly Ruch-Ross, James F Bale
BACKGROUND: To assess and compare resident and practicing child neurologists' attitudes regarding recruitment and residency training in child neurology. METHODS: A joint task force of the American Academy of Pediatrics and the Child Neurology Society conducted an electronic survey of child neurology residents (n = 305), practicing child neurologists (n = 1290), and neurodevelopmental disabilities specialists (n = 30) in 2015. Descriptive and multivariate analyses were performed...
January 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/27940011/pediatric-intracranial-hypertension
#14
REVIEW
Shawn C Aylward, Rachel E Reem
Primary (idiopathic) intracranial hypertension has been considered to be a rare entity, but with no precise estimates of the pediatric incidence in the United States. There have been attempts to revise the criteria over the years and adapt the adult criteria for use in pediatrics. The clinical presentation varies with age, and symptoms tending to be less obvious in younger individuals. In the prepubertal population, incidentally discovered optic disc edema is relatively common. By far the most consistent symptom is headache; other symptoms include nausea, vomiting tinnitus, and diplopia...
January 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/27913085/anti-n-methyl-d-aspartate-receptor-encephalitis-and-rasmussen-like-syndrome-an-association
#15
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...
January 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/27876177/the-evolution-of-child-neurology-training
#16
EDITORIAL
Donna M Ferriero, Scott L Pomeroy
No abstract text is available yet for this article.
January 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/27867041/infantile-epileptic-encephalopathy-associated-with-scn2a-mutation-responsive-to-oral-mexiletine
#17
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...
January 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/27847180/outcome-and-cost-of-inpatient-hospitalization-for-intravenous-dihydroergotamine-treatment-of-refractory-pediatric-headache
#18
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...
January 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/27843092/rmnd1-related-leukoencephalopathy-with-temporal-lobe-cysts-and-hearing-loss-another-mendelian-mimicker-of-congenital-cytomegalovirus-infection
#19
Nicole Ulrick, Amy Goldstein, Cas Simons, Ryan J Taft, Guy Helman, Amy Pizzino, Miriam Bloom, Julie Vogt, Karen Pysden, Daria Diodato, Diego Martinelli, Ahmad Monavari, Daniela Buhas, Clara D M van Karnebeek, Imen Dorboz, Odile Boespflug-Tanguy, Diana Rodriguez, Martine Tétreault, Jacek Majewski, Genevieve Bernard, Yi Shiau Ng, Robert McFarland, Adeline Vanderver
BACKGROUND: Leukoencephalopathy with temporal lobe cysts may be associated with monogenetic conditions such as Aicardi-Goutières syndrome or RNASET2 mutations and with congenital infections such as cytomegalovirus. In view of the fact that congenital cytomegalovirus is difficult to confirm outside the neonatal period, excluding a Mendelian disorder is extremely relevant, changing family planning and medical management in affected families. We performed diagnostic testing in individuals with leukoencephalopathy with temporal lobe cysts without a definitive diagnosis of congenital cytomegalovirus infection...
January 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/27843091/cause-of-death-in-children-with-mitochondrial-diseases
#20
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)...
January 2017: Pediatric Neurology
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