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https://www.readbyqxmd.com/read/28300030/hemispheric-polymicrogyria-and-neonatal-seizures-a-potentially-life-threatening-combination
#1
Paula M Brna, A Simon Harvey, Richard J Leventer
Polymicrogyria (PMG) is a heterogeneous malformation of cortical development characterized by excessive gyration and abnormal cortical lamination. Typically, bilateral forms have more severe developmental delay and early-onset epilepsy, but the full spectrum of severity remains ill-defined. We report two cases of right hemispheric PMG and neonatal-onset, drug-resistant seizures culminating in early death. Case 1 began having seizures on Day 1 of life that intensified in severity and proved resistant to numerous antiepileptic drugs...
March 14, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28295155/antecedents-and-neuroimaging-patterns-in-cerebral-palsy-with-epilepsy-and-cognitive-impairment-a-population-based-study-in-children-born-at-term
#2
Kristina Ahlin, Bo Jacobsson, Staffan Nilsson, Kate Himmelmann
INTRODUCTION: Antecedents of accompanying impairments in cerebral palsy (CP) and their relation to neuroimaging patterns need to be explored. MATERIAL AND METHODS: A population-based study of 309 children with CP born at term in 1983-1994. Pre-, intra- and postpartum variables previously studied as antecedents of CP type and motor severity were analysed in children with CP and cognitive impairment and/or epilepsy, and in children with CP without these accompanying impairments...
March 12, 2017: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/28293314/clinical-spectrum-of-cerebral-palsy-and-associated-disability-in-south-egypt-a-local-survey-study
#3
Osama Abas, Faten Abdelaziem, Ayman Kilany
BACKGROUND: Cerebral palsy is the most common cause of motor disability in children with a prevalence of 2-10/1,000 live births in the developing areas. AIM: The epidemiology, clinical picture, and associated comorbidities in CP have been extensively studied in high-resource countries, but in low-resource areas, including Africa, those studies are still lacking. METHODS: Cerebral palsy cases were prospectively recruited from every physiotherapy centre in Bani-Mazar city, Egypt, in a cross-sectional study from May 2015 to November 2015...
March 15, 2017: Open Access Macedonian Journal of Medical Sciences
https://www.readbyqxmd.com/read/28277939/potassium-channel-expression-and-function-in-microglia-plasticity-and-possible-species-variations
#4
Hai M Nguyen, Linda V Blomster, Palle Christophersen, Heike Wulff
Potassium channels play important roles in microglia functions and thus constitute potential targets for the treatment of neurodegenerative diseases like Alzheimer, Parkinson and stroke. However, uncertainty still prevails as to which potassium channels are expressed and at what levels in different species, how the expression pattern changes upon activation with M1 or M2 polarizing stimuli compared with more complex exposure paradigms, and - most importantly - how these findings relate to the in vivo situation...
March 1, 2017: Channels
https://www.readbyqxmd.com/read/28274640/clinical-predictors-of-attention-and-executive-functioning-outcomes-in-children-after-perinatal-arterial-ischemic-stroke
#5
Danielle D Bosenbark, Lauren Krivitzky, Rebecca Ichord, Arastoo Vossough, Aashim Bhatia, Laura E Jastrzab, Lori Billinghurst
BACKGROUND: Children with perinatal arterial ischemic stroke (PAIS) are at risk for later neurocognitive and behavioral deficits, yet the clinical predictors of these outcomes are understudied. We examined the influence of clinical and infarct characteristics on attention and executive functioning in children following PAIS. METHODS: Forty children born at term (≥37 weeks' gestation) with PAIS (28 with neonatal arterial ischemic stroke and 12 with presumed PAIS) underwent a comprehensive neuropsychological battery at age three to 16 years (median age 7...
January 25, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28274169/safety-and-efficacy-of-topiramate-in-neonates-with-hypoxic-ischemic-encephalopathy-treated-with-hypothermia-neonati-a-feasibility-study
#6
Luca Filippi, Patrizio Fiorini, Serena Catarzi, Elettra Berti, Letizia Padrini, Elisa Landucci, Gianpaolo Donzelli, Laura Bartalena, Erika Fiorentini, Antonio Boldrini, Matteo Giampietri, Rosa Teresa Scaramuzzo, Giancarlo la Marca, Maria Luisa Della Bona, Simona Fiori, Francesca Tinelli, Ada Bancale, Andrea Guzzetta, Giovanni Cioni, Tiziana Pisano, Melania Falchi, Renzo Guerrini
Purpose To investigate the feasibility of a study based on treatment with topiramate added to moderate hypothermia in newborns with hypoxic ischemic encephalopathy (HIE). Materials and methods Multicenter randomized controlled trial. Term newborns with precocious metabolic, clinical and electroencephalographic (EEG) signs of HIE were selected according to their amplified integrated EEG pattern and randomized to receive either topiramate (10 mg/kg once a day for the first three days of life) plus moderate hypothermia or hypothermia alone...
March 8, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28274007/facial-dysmorphism-an-unreported-teratogenicity-with-levetiracetam
#7
Jyotsana Gupta, Sandhya Jain, Shalini Rajaram, Neerja Goel, Bindiya Gupta
Levetiracetam (LEV) is a relatively newer anticonvulsant drug used to treat epilepsy and is approved by United States Food and Drugs Administration (USFDA). The drug binds to a synaptic vesicle glycoprotein and inhibits presynaptic calcium channels, thus reducing neurotransmitter release. Commonly reported side effects include drowsiness, weakness, unsteady gait, mood changes and loss of appetite. Like most other antiepileptics, it is a Category C drug in pregnancy. We report the first case of facial dysmorphism in the neonate of a mother taking LEV antenatally...
January 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28272686/ambiguous-genitalia-associated-with-an-extremely-rare-syndrome-a-case-report-of-xlag-syndrome-and-review-of-the-literature
#8
Brijnandan Gupta, Prashant Ramteke, V K Paul, Tarun Kumar, Prasenjit DAS
X-linked lissencephaly, absent corpus callosum, and epilepsy of neonatal onset with ambiguous genitalia comprises the XLAG syndrome and only 15 cases have been reported in literature. Due to its rarity, the exact clinical course and outcome are not known. Exact associations of this disease are also elusive. Hereby we are reporting this extremely rare entity and we searched the English literature extensively to get consolidated knowledge regarding this entity that would help the readers. Pre-natal radiological work-up can detect these malformations, which should be followed by medical termination, counseling and karyotyping...
February 4, 2017: Türk Patoloji Dergisi
https://www.readbyqxmd.com/read/28264506/plasma-membrane-na%C3%A2-%C2%BA-coupled-citrate-transporter-slc13a5-and-neonatal-epileptic-encephalopathy
#9
REVIEW
Yangzom D Bhutia, Jonathan J Kopel, John J Lawrence, Volker Neugebauer, Vadivel Ganapathy
SLC13A5 is a Na⁺-coupled transporter for citrate that is expressed in the plasma membrane of specific cell types in the liver, testis, and brain. It is an electrogenic transporter with a Na⁺:citrate(3-) stoichiometry of 4:1. In humans, the Michaelis constant for SLC13A5 to transport citrate is ~600 μM, which is physiologically relevant given that the normal concentration of citrate in plasma is in the range of 150-200 μM. Li⁺ stimulates the transport function of human SLC13A5 at concentrations that are in the therapeutic range in patients on lithium therapy...
February 28, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/28241924/primary-human-cytomegalovirus-hcmv-infection-in-pregnancy
#10
Horst Buxmann, Klaus Hamprecht, Matthias Meyer-Wittkopf, Klaus Friese
BACKGROUND: In 0.5-4% of pregnancies, the prospective mother sustains a primary infection with human cytomegalovirus (HCMV). An HCMV infection of the fetus in the first or second trimester can cause complex post-encephalitic impairment of the infant brain, leading to motor and mental retardation, cerebral palsy, epilepsy, retinal defects, and progressive hearing loss. METHODS: This review is based on pertinent publications from January 2000 to October 2016 that were retrieved by a selective search in PubMed employing the terms "cytomegalovirus and pregnancy" and "congenital cytomegalovirus...
January 27, 2017: Deutsches Ärzteblatt International
https://www.readbyqxmd.com/read/28241263/bridging-knowledge-gaps-to-understand-how-zika-virus-exposure-and-infection-affect-child-development
#11
Bill G Kapogiannis, Nahida Chakhtoura, Rohan Hazra, Catherine Y Spong
Importance: The Zika virus (ZIKV) epidemic has profoundly affected the lives of children and families across the Americas. As the number of children born with ZIKV-related complications continues to grow, the long-term developmental trajectory for these children and the effect on their families remains largely unknown. In September 2016, the Eunice Kennedy Shriver National Institute of Child Health and Human Development and partner National Institutes of Health institutes convened a workshop to develop a research agenda to improve the evaluation, monitoring, and management of neonates, infants, or children affected by ZIKV and its complications...
February 20, 2017: JAMA Pediatrics
https://www.readbyqxmd.com/read/28222320/antioxidant-polymorphisms-do-not-influence-the-risk-of-epilepsy-or-its-drug-resistance-after-neonatal-hypoxic-ischemic-brain-injury
#12
Katarina Esih, Katja Goričar, Vita Dolžan, Zvonka Rener-Primec
PURPOSE: The aim of this study was to investigate if common functional antioxidant polymorphisms are associated with epilepsy after neonatal hypoxic-ischemic encephalopathy (HIE). The antioxidant enzymes manganese superoxide dismutase (SOD2), glutathione peroxidase 1 (GPX1) and catalase (CAT) represent the primary defence mechanism against reactive oxygen species (ROS). Evidence suggests that genetic variants in antioxidant enzymes could influence susceptibility to epilepsy, but to date the relationship between them remains unclear...
February 3, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28211317/primary-human-cytomegalovirus-hcmv-infection-in-pregnancy
#13
Horst Buxmann, Klaus Hamprecht, Matthias Meyer-Wittkopf, Klaus Friese
BACKGROUND: In 0.5-4% of pregnancies, the prospective mother sustains a primary infection with human cytomegalovirus (HCMV). An HCMV infection of the fetus in the first or second trimester can cause complex post-encephalitic impairment of the infant brain, leading to motor and mental retardation, cerebral palsy, epilepsy, retinal defects, and progressive hearing loss. METHODS: This review is based on pertinent publications from January 2000 to October 2016 that were retrieved by a selective search in PubMed employing the terms "cytomegalovirus and pregnancy" and "congenital cytomegalovirus...
January 27, 2017: Deutsches Ärzteblatt International
https://www.readbyqxmd.com/read/28209769/seizures-in-children-with-cerebral-palsy-and-white-matter-injury
#14
Monica S Cooper, Mark T Mackay, Michael Fahey, Dinah Reddihough, Susan M Reid, Katrina Williams, A Simon Harvey
OBJECTIVE: The goal of this study was to describe the prevalence, syndromes, and evolution of seizure disorders in children with cerebral palsy (CP) due to white matter injury (WMI). METHODS: For this population-based cohort study, brain MRI scans and medical records were reviewed in children in the Victorian Cerebral Palsy Register born between 1999 and 2006 recorded as having WMI. Children were excluded if they had features of an undiagnosed syndrome, associated cortical malformation or injury, or no medical contact in the preceding year...
March 2017: Pediatrics
https://www.readbyqxmd.com/read/28199315/szt2-dictates-gator-control-of-mtorc1-signalling
#15
Min Peng, Na Yin, Ming O Li
Mechanistic target of rapamycin complex 1 (TORC1) integrates nutrient signals to control cell growth and organismal homeostasis across eukaryotes. The evolutionarily conserved GATOR complex regulates mTORC1 signalling through Rag GTPases, and GATOR1 displays GTPase activating protein (GAP) activity for RAGA and RAGB (RAGA/B) and GATOR2 has been proposed to be an inhibitor of GATOR1. Furthermore, the metazoan-specific SESN proteins function as guanine nucleotide dissociation inhibitors (GDIs) for RAGA/B, and interact with GATOR2 with unknown effects...
February 15, 2017: Nature
https://www.readbyqxmd.com/read/28192112/multiple-blood-brain-barrier-transport-mechanisms-limit-bumetanide-accumulation-and-therapeutic-potential-in-the-mammalian-brain
#16
Kerstin Römermann, Maren Fedrowitz, Philip Hampel, Edith Kaczmarek, Kathrin Töllner, Thomas Erker, Douglas H Sweet, Wolfgang Löscher
There is accumulating evidence that bumetanide, which has been used over decades as a potent loop diuretic, also exerts effects on brain disorders, including autism, neonatal seizures, and epilepsy, which are not related to its effects on the kidney but rather mediated by inhibition of the neuronal Na-K-Cl cotransporter isoform NKCC1. However, following systemic administration, brain levels of bumetanide are typically below those needed to inhibit NKCC1, which critically limits its clinical use for treating brain disorders...
February 10, 2017: Neuropharmacology
https://www.readbyqxmd.com/read/28178321/ampa-glua1-flip-targeted-oligonucleotide-therapy-reduces-neonatal-seizures-and-hyperexcitability
#17
Nicole M Lykens, David J Coughlin, Jyoti M Reddi, Gordon J Lutz, Melanie K Tallent
Glutamate-activated α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptors (AMPA-Rs) mediate the majority of excitatory neurotransmission in brain and thus are major drug targets for diseases associated with hyperexcitability or neurotoxicity. Due to the critical nature of AMPA-Rs in normal brain function, typical AMPA-R antagonists have deleterious effects on cognition and motor function, highlighting the need for more precise modulators. A dramatic increase in the flip isoform of alternatively spliced AMPA-R GluA1 subunits occurs post-seizure in humans and animal models...
2017: PloS One
https://www.readbyqxmd.com/read/28176327/women-treated-for-epilepsy-during-pregnancy-outcomes-from-a-nationwide-population-based-cohort-study
#18
Miia Artama, Jemina Braumann, Jani Raitanen, Jukka Uotila, Mika Gissler, Jouko Isojärvi, Anssi Auvinen
INTRODUCTION: Women with epilepsy (WWE) are generally treated as a risk group during pregnancy, but over 90% of pregnant WWE have favorable pregnancies. However, the risk of some pregnancy and delivery complications may be increased among WWE, especially those on antiepileptic drugs. MATERIAL AND METHODS: This nationwide, retrospective population-based cohort study includes WWE who gave birth in Finland during 1987-2008 (n = 1737) and the reference cohort of random sample of women without epilepsy (n = 4357)...
February 7, 2017: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/28161194/bumetanide-reduce-the-seizure-susceptibility-induced-by-pentylenetetrazol-via-inhibition-of-aberrant-hippocampal-neurogenesis-in-neonatal-rats-after-hypoxia-ischemia
#19
Jiang-Jian Hu, Xing-Liang Yang, Wen-Di Luo, Song Han, Jun Yin, Wan-Hong Liu, Xiao-Hua He, Bi-Wen Peng
Hypoxia-ischemia brain damage (HIBD) is one of prevalent causes of neonatal mortality and morbidity. Our data demonstrated that hypoxia-ischemia (HI) induced Na(+)-K(+)-Cl(-)-co-transporter 1 (NKCC1) increasing in hippocampus. Previous studies demonstrated that NKCC1 regulates various stages of neurogenesis. In this study, we studied the role of increased NKCC1 in regulating of HI-induced neurogenesis. HIBD model was established in 7days old Sprague-Dawley rat pup, and the expression of NKCC1 was detected by western blot and qPCR...
February 2, 2017: Brain Research Bulletin
https://www.readbyqxmd.com/read/28160395/a-novel-disorder-of-sex-development-characterized-by-progressive-regression-of-testicular-function-and-cystic-leukoencephalopathy
#20
Massimiliano Rossi, Alexandre Vasiljevic, Audrey Labalme, Frédérique Dijoud, Delphine Mallet-Motak, Carmen Adina Petcu, Renaud Touraine, Christine Vianey-Saban, Laurent Guibaud, Patrick Edery, Damien Sanlaville, Yves Morel
We report a novel syndromic disorder of sex development observed in three male siblings, presenting with the association of micropenis without hypospadias, cryptorchidism, very low level of antimüllerian hormone in the neonatal period, and no persistent müllerian duct structures, suggesting a progressive regression of testicular function. The patients described here showed a striking neurological involvement including bilateral periventricular cysts observed in the anterior part of the frontal horns prenatally and increasing in size and number over time, associated with infra and supratentorial parenchymal atrophy, dilated ventricular system, corpus callosum hypoplasia, severe intellectual disability, and epilepsy...
March 2017: American Journal of Medical Genetics. Part A
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