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https://www.readbyqxmd.com/read/28720723/profile-and-outcomes-of-critically-ill-children-in-a-lower-middle-income-country
#1
Muhammad Irfan Habib, Khalid Mehmood A Khan
OBJECTIVE: To determine the clinical profile and outcome of critically ill children presenting to a paediatric ED in a lower middle-income country. METHODS: We performed a retrospective analysis of children (<14 years) presenting to the ED of the National Institute of Child Health, Karachi, between January and December 2014 who were assigned to acuity 1 (requiring immediate life-saving interventions) according to the Emergency Severity Index. Data included demographic variables, presenting complaints, interventions and outcomes in the ED...
July 18, 2017: Emergency Medicine Journal: EMJ
https://www.readbyqxmd.com/read/28719906/a-common-ancestral-asn242ser-mutation-in-tmem67-identified-in-multiple-iranian-families-with-joubert-syndrome
#2
MohammadReza Dehghani, Majid Mojarad, Ehsan Ghayoor Karimiani, Mohammad Yahya Vahidi Mehrjardi, Afsaneh Sahebalzamani, Farah Ashrafzadeh, Mehran Beiraghi Toosi, Atiyeh Eslahi, Najmeh Ahangari, Seyed Mojtaba Yassini, Afsaneh Hassanbeigi, Azam Rasti, Seyed Mehdi Kalantar, Reza Maroofian
BACKGROUND: Joubert syndrome (JS) is a clinically and genetically heterogeneous group of rare neurodevelopmental disorder characterised by peculiar midbrain-hindbrain malformation, known as the "molar tooth" sign. JS can manifest a broad range of signs and symptoms. The most common features of JS are hypotonia, ataxia, developmental delay/intellectual disability, abnormal eye movements, and neonatal breathing abnormalities. To date, 29 genes have been shown to cause JS. METHODS: We employed whole-genome single nucleotide polymorphism genotyping in a group of Iranian families with JS and Sanger sequencing of a known mutation associated with JS located in a single homozygous regions shared by affected members of the families...
July 19, 2017: Public Health Genomics
https://www.readbyqxmd.com/read/28704875/sonographic-and-doppler-sonographic-diagnosis-of%C3%A2-neonatal-ischemic-stroke
#3
Karl-Heinz Deeg
Children are particularly at risk for stroke in the neonatal period. 1/3 of all strokes in children occur during the perinatal period. The incidence of perinatal stroke is 1:4000. A differentiation is made between ischemic stroke and hemorrhagic stroke. Ischemic strokes are caused by arterial occlusion due to thrombosis or embolism. As a result of the nonspecific clinical symptoms in this age group, diagnosis is usually made too late. The only relatively specific symptom is focal cerebral seizure during the first week of life...
July 13, 2017: Ultraschall in der Medizin
https://www.readbyqxmd.com/read/28704822/prediction-of-outcome-in-neonates-with-hypoxic-ischemic-encephalopathy-ii-role-of-amplitude-integrated-electroencephalography-and-cerebral-oxygen-saturation-measured-by-near-infrared-spectroscopy
#4
Katharina Goeral, Berndt Urlesberger, Vito Giordano, Gregor Kasprian, Michael Wagner, Lisa Schmidt, Angelika Berger, Katrin Klebermass-Schrehof, Monika Olischar
BACKGROUND: Few data have been published on the combined use of amplitude-integrated electroencephalography (aEEG) and near-infrared spectroscopy (NIRS) for outcome prediction in neonates cooled for hypoxic-ischemic encephalopathy (HIE). OBJECTIVE: Our aim was to evaluate the predictive values and the most powerful predictive combinations of single aEEG and NIRS parameters and the respective cut-off values with regard to short-term outcomes in HIE II. METHODS: aEEG and NIRS were prospectively studied at the Medical University of Vienna in the first 102 h of life with regard to magnetic resonance imaging (MRI)...
July 14, 2017: Neonatology
https://www.readbyqxmd.com/read/28698725/plasma-pyridoxal-5%C3%A1-phosphate-level-in-children-with-intractable-and-controlled-epilepsy
#5
Zahra Pirzadeh, Mohammad Ghofrani, Mohsen Mollamohammadi
OBJECTIVE: Intractable epilepsy is a serious neurologic problem with different etiologies. Decreased levels of pyridoxal phosphate in cerebral spinal fluid of patients with intractable epilepsy due to pyridoxine dependency epilepsy are reported. The aim of this study was to compare plasma pyridoxal 5´-phosphate level in patients with intractable and controlled epilepsy. MATERIALS & METHODS: This cross- sectional analytic study included 66 epileptic children, 33 patients with controlled and 33 patients with intractable epilepsy, after neonatal period up to 15 yr old of age...
2017: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/28691593/electrographic-seizures-in-preterm-neonates-in-the-neonatal-intensive-care-unit
#6
Ersida Buraniqi, Arnold J Sansevere, Kush Kapur, Ann M Bergin, Phillip L Pearl, Tobias Loddenkemper
OBJECTIVE: Characterize clinical and electroencephalography (EEG) characteristics of preterm neonates undergoing continuous EEG in the neonatal intensive care unit. METHODS: Retrospective study of preterm neonates born less than 37 weeks' gestational age undergoing continuous EEG in the neonatal intensive care unit at Boston Children's Hospital over a 2-year period. RESULTS: Fifty-two preterms (46% male) had a mean gestational age of 32.8 weeks (standard deviation = 4...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28691158/anticonvulsant-effect-of-cannabinoid-receptor-agonists-in-models-of-seizures-in-developing-rats
#7
Megan N Huizenga, Evan Wicker, Veronica C Beck, Patrick A Forcelli
OBJECTIVE: Although drugs targeting the cannabinoid system (e.g., CB1 receptor agonists) display anticonvulsant efficacy in adult animal models of seizures/epilepsy, they remain unexplored in developing animal models. However, cannabinoid system functions emerge early in development, providing a rationale for targeting this system in neonates. We examined the therapeutic potential of drugs targeting the cannabinoid system in three seizure models in developing rats. METHODS: Postnatal day (P) 10, Sprague-Dawley rat pups were challenged with the chemoconvulsant methyl-6,7-dimethoxy-4-ethyl-beta-carboline-3-carboxylate (DMCM) or pentylenetetrazole (PTZ), after treatment with either CB1/2 mixed agonist (WIN 55,212-2), CB1 agonist (arachidonyl-2'-chloroethylamide [ACEA]), CB2 agonist (HU-308), CB1 antagonist (AM-251), CB2 antagonist (AM-630), fatty acid amide hydrolase inhibitor (URB-597), or G protein-coupled receptor 55 agonist (O-1602)...
July 10, 2017: Epilepsia
https://www.readbyqxmd.com/read/28687180/a-patient-with-early-myoclonic-encephalopathy-eme-with-a-de-novo-kcnq2-mutation
#8
Karin Kojima, Kentaro Shirai, Mizuki Kobayashi, Akihiko Miyauchi, Hirotomo Saitsu, Naomichi Matsumoto, Hitoshi Osaka, Takanori Yamagata
BACKGROUND: The potassium voltage-gated channel subfamily Q member 2 (KCNQ2) gene has been reported to be associated with various types of epilepsy, including benign familial neonatal seizure (BFNS), early infantile epileptic encephalopathy (EIEE), and unclassified early onset encephalopathies. We herein report a patient with early myoclonic encephalopathy (EME) caused by a KCNQ2 mutation. CASE REPORT: A male infant started to exhibit erratic myoclonus several days after birth and apnea attacks lasting for seconds with desaturation...
July 4, 2017: Brain & Development
https://www.readbyqxmd.com/read/28686619/rare-variants-of-small-effect-size-in-neuronal-excitability-genes-influence-clinical-outcome-in-japanese-cases-of-scn1a-truncation-positive-dravet-syndrome
#9
Michael F Hammer, Atsushi Ishii, Laurel Johnstone, Alexander Tchourbanov, Branden Lau, Ryan Sprissler, Brian Hallmark, Miao Zhang, Jin Zhou, Joseph Watkins, Shinichi Hirose
Dravet syndrome (DS) is a rare, devastating form of childhood epilepsy that is often associated with mutations in the voltage-gated sodium channel gene, SCN1A. There is considerable variability in expressivity within families, as well as among individuals carrying the same primary mutation, suggesting that clinical outcome is modulated by variants at other genes. To identify modifier gene variants that contribute to clinical outcome, we sequenced the exomes of 22 individuals at both ends of a phenotype distribution (i...
2017: PloS One
https://www.readbyqxmd.com/read/28675557/neurobehavioral-comorbidities-of-epilepsy-role-of-inflammation
#10
Andrey M Mazarati, Megan L Lewis, Quentin J Pittman
Epilepsy is associated with a high incidence of comorbid neurologic and psychiatric disorders. This review focuses on the association of epilepsy with autism spectrum disorder (ASD) and depression. There is high concordance of these behavioral pathologies with epilepsy. We review data that unambiguously reveal that epilepsy, ASD, and depression are associated with elevated brain inflammatory markers and that these may interact with serotoninergic pathways. Interference with inflammatory pathways or actions can reduce the severity of seizures, depression, and ASD-like behavior...
July 2017: Epilepsia
https://www.readbyqxmd.com/read/28673551/analyses-of-slc13a5-epilepsy-patients-reveal-perturbations-of-tca-cycle
#11
Matthew N Bainbridge, Erin Cooney, Marcus Miller, Adam D Kennedy, Jacob E Wulff, Taraka Donti, Shalini N Jhangiani, Richard A Gibbs, Sarah H Elsea, Brenda E Porter, Brett H Graham
OBJECTIVE: To interrogate the metabolic profile of five subjects from three families with rare, nonsense and missense mutations in SLC13A5 and Early Infantile Epileptic Encephalopathies (EIEE) characterized by severe, neonatal onset seizures, psychomotor retardation and global developmental delay. METHODS: Mass spectrometry of plasma, CSF and urine was used to identify consistently dysregulated analytes in our subjects. RESULTS: Distinctive elevations of citrate and dysregulation of citric acid cycle intermediates, supporting the hypothesis that loss of SLC13A5 function alters tricarboxylic acid cycle (TCA) metabolism and may disrupt metabolic compartmentation in the brain...
June 24, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28672318/effect-of-depth-and-duration-of-cooling-on-death-or-disability-at-age-18-months-among-neonates-with-hypoxic-ischemic-encephalopathy-a-randomized-clinical-trial
#12
RANDOMIZED CONTROLLED TRIAL
Seetha Shankaran, Abbot R Laptook, Athina Pappas, Scott A McDonald, Abhik Das, Jon E Tyson, Brenda B Poindexter, Kurt Schibler, Edward F Bell, Roy J Heyne, Claudia Pedroza, Rebecca Bara, Krisa P Van Meurs, Carolyn M Petrie Huitema, Cathy Grisby, Uday Devaskar, Richard A Ehrenkranz, Heidi M Harmon, Lina F Chalak, Sara B DeMauro, Meena Garg, Michelle E Hartley-McAndrew, Amir M Khan, Michele C Walsh, Namasivayam Ambalavanan, Jane E Brumbaugh, Kristi L Watterberg, Edward G Shepherd, Shannon E G Hamrick, John Barks, C Michael Cotten, Howard W Kilbride, Rosemary D Higgins
Importance: Hypothermia for 72 hours at 33.5°C for neonatal hypoxic-ischemic encephalopathy reduces death or disability, but rates continue to be high. Objective: To determine if cooling for 120 hours or to a temperature of 32.0°C reduces death or disability at age 18 months in infants with hypoxic-ischemic encephalopathy. Design, Setting, and Participants: Randomized 2 × 2 factorial clinical trial in neonates (≥36 weeks' gestation) with hypoxic-ischemic encephalopathy at 18 US centers in the Eunice Kennedy Shriver National Institute of Child Health and Human Development Neonatal Research Network between October 2010 and January 2016...
July 4, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28670576/neonatal-meningitis-overcoming-challenges-in-diagnosis-prognosis-and-treatment-with-omics
#13
REVIEW
Scott M Gordon, Lakshmi Srinivasan, Mary Catherine Harris
Neonatal meningitis is a devastating condition. Prognosis has not improved in decades, despite the advent of improved antimicrobial therapy and heightened index of suspicion among clinicians caring for affected infants. One in ten infants die from meningitis, and up to half of survivors develop significant lifelong complications, including seizures, impaired hearing and vision, and delayed or arrested development of such basic skills as talking and walking. At present, it is not possible to predict which infants will suffer poor outcomes...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28665933/preventing-harmful-effects-of-epileptic-seizures-on-cerebrovascular-functions-in-newborn-pigs-does-sex-matter
#14
Jianxiong Liu, Massroor Pourcyrous, Alex L Fedinec, Charles W Leffler, Helena Parfenova
BACKGROUND: The potential contribution of sex-related variables to cerebrovascular functions in neonates remains elusive. Newborn piglets provide a translationally relevant model for studying the effects of seizures in the neonatal brain. The present study investigated whether sex differences contribute to cerebrovascular functions in healthy and epileptic newborn pigs. METHODS: Epileptic seizures were induced in female and male newborn pigs by bicuculline. An antioxidant drug, the carbon monoxide-releasing molecule CORM-A1, was administered enterally before or during seizures...
June 30, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28660389/clinical-and-molecular-characterization-of-prader-willi-syndrome
#15
G N Sanjeeva, Madhuri Maganthi, Himabindu Kodishala, Rohit Kumar R Marol, Pooja S Kulshreshtha, Elisa Lorenzetto, Jayarama S Kadandale, Uros Hladnik, P Raghupathy, Meenakshi Bhat
OBJECTIVES: To describe the clinical presentations and molecular diagnosis to aid the clinicians in early diagnosis and appropriate management of Prader-Willi syndrome (PWS). METHODS: Thirty-four clinically diagnosed PWS cases were enrolled after obtaining informed consent/assent. Demographic details, clinical data and anthropometry were recorded using structured proforma. The facial dysmorphology was evaluated. Appropriate genetic testing was performed to confirm the diagnosis...
June 29, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28658158/neonatal-onset-carbamoyl-phosphate-synthetase-i-deficiency-a-case-report
#16
Xiaoyan Yang, Jing Shi, Haihong Lei, Bin Xia, Dezhi Mu
RATIONALE: The carbamoyl phosphate synthetase I deficiency (CPS1D) was rare and hard to diagnose due to its atypical symptoms. Brain magnetic resonance imaging (MRI) was typically unavailable in other reports because most patients died before diagnosis was confirmed. Furthermore, it was found a new mutation that had not been described previously. PATIENT CONCERNS: This is a case of neonatal-onset CPS1D with nonspecific clinical manifestations and deteriorating rapidly...
June 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28643232/caffeine-protects-against-anticonvulsant-induced-neurotoxicity-in-the-developing-rat-brain
#17
Stefanie Endesfelder, Ulrike Weichelt, Cornelia Schiller, Marco Sifringer, Ivo Bendix, Christoph Bührer
Phenobarbital is the most commonly used drug for the treatment of neonatal seizures but may induce neurodegeneration in the developing brain. Methylxanthine caffeine is used for the treatment of apnea in newborn infants and appears to be neuroprotective, as shown by antiapoptotic and anti-inflammatory effects in oxidative stress models in newborn rodents and reduced rates of cerebral palsy in human infants treated with caffeine. We hypothesized that caffeine may counteract the proapoptotic effects of phenobarbital in newborn rats...
June 22, 2017: Neurotoxicity Research
https://www.readbyqxmd.com/read/28635423/inner-retinal-dystrophy-in-a-patient-with-biallelic-sequence-variants-in-brat1
#18
Julius T Oatts, Jacque L Duncan, Creig S Hoyt, Anne M Slavotinek, Anthony T Moore
BACKGROUND: Mutations in the BRCA1-associated protein required for the ataxia telangiectasia mutated (ATM) activation-1 (BRAT1) gene cause lethal neonatal rigidity and multifocal seizure syndrome characterized by rigidity and intractable seizures and a milder phenotype with intellectual disability, seizures, nonprogressive cerebellar ataxia or dyspraxia, and cerebellar atrophy. To date, nystagmus, cortical visual impairment, impairment of central vision, optic nerve hypoplasia, and optic atrophy have been described in this condition...
March 2, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28629418/prenatal-brain-disruption-in-isolated-sulfite-oxidase-deficiency
#19
Hsiu-Fen Lee, Ching-Shiang Chi, Chi-Ren Tsai, Hung-Chieh Chen, I-Chun Lee
BACKGROUND: Isolated sulfite oxidase deficiency (ISOD) is a very rare autosomal recessive inherited neurometabolic disease. The most striking postnatal neuroimaging finding is multicystic encephalomalacia, which occurs rapidly within days to weeks after birth and mimics severe hypoxic-ischemic encephalopathy. The aim of this study was to describe the prenatal neuroimaging features in a neonate and a fetus diagnosed with ISOD. RESULTS: We report an 11-day-old female neonate who presented with feeding difficulties, decreased activity, neonatal seizures, and movement disorders within a few days after birth...
June 19, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28628231/gene-therapy-decreases-seizures-in-a-model-of-incontinentia-pigmenti
#20
Godwin K Dogbevia, Kathrin Töllner, Jakob Körbelin, Sonja Bröer, Dirk A Ridder, Hanna Grasshoff, Claudia Brandt, Jan Wenzel, Beate K Straub, Martin Trepel, Wolfgang Löscher, Markus Schwaninger
OBJECTIVE: Incontinentia pigmenti (IP) is a genetic disease leading to severe neurological symptoms, such as epileptic seizures, but no specific treatment is available. IP is caused by pathogenic variants that inactivate the Nemo gene. Replacing Nemo through gene therapy might provide therapeutic benefits. METHODS: In a mouse model of IP we administered a single intravenous dose of the AAV vector AAV-BR1-CAG-NEMO delivering the Nemo gene to the brain endothelium...
June 19, 2017: Annals of Neurology
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