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Neonatal seizure

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https://www.readbyqxmd.com/read/29453467/loading-dose-only-versus-standard-dose-magnesium-sulfate-seizure-prophylaxis-in-severe-pre-eclamptic-women
#1
Surya Prasad Rimal, Pappu Rijal, Rabindra Bhatt, Kriti Thapa
INTRODUCTION: Magnesium sulfate is the drug of choice for prevention of seizures in the pre-eclamptic woman. There is no agreement in the published randomized trials regarding the optimal time to initiate magnesium sulfate, the dose to use (both loading and maintenance) as well as the duration of therapy. The objective of this study is to determine whether magnesium sulfate prophylaxis is needed for up to 24 hours postpartum in all patients with severe pre-eclampsia for the prevention of seizure...
October 2017: JNMA; Journal of the Nepal Medical Association
https://www.readbyqxmd.com/read/29444765/early-infancy-onset-stimulation-induced-myoclonic-seizures-in-three-siblings-with-inherited-glycosylphosphatidylinositol-gpi-anchor-deficiency
#2
Yukiko Mogami, Yasuhiro Suzuki, Yoshiko Murakami, Tae Ikeda, Sadami Kimura, Keiko Yanagihara, Nobuhiko Okamoto, Taroh Kinoshita
Inherited glycosylphosphatidylinositol anchor deficiency causes a variety of clinical symptoms, including epilepsy, however, little information is available regarding seizures as a symptom. We report three siblings with inherited glycosylphosphatidylinositol anchor deficiency with PIGL gene mutations. The phenotypes of the subjects were not consistent with CHIME syndrome or Mabry syndrome, as reported in previous studies. All shared some clinical manifestations, including transient apnoea as neonates, dysmorphic facial features, and intellectual disability...
February 14, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/29444535/neonatal-onset-of-epilepsy-of-infancy-with-migrating-focal-seizures-associated-with-a-novel-gabrb3-variant-in-monozygotic-twins
#3
Katalin Štěrbová, Markéta Vlčková, Petr Klement, Jana Neupauerová, David Staněk, Hana Zůnová, Pavel Seeman, Petra Laššuthová
BACKGROUND: Recently, a study providing insight into GABRB3 mutational spectrum was published (Møller et al 2017). The authors report considerable pleiotropy even for single mutations and were not able to identify any genotype-phenotype correlations. METHODS: The proband (twin B) was referred for massively parallel sequencing of epilepsy-related gene panel because of hypotonia and neonatal seizures. The revealed variant was confirmed with Sanger sequencing in the proband and the twin A, and both parents were tested for the presence of the variant...
February 14, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29433814/acute-symptomatic-seizures-in-term-neonates-etiologies-and-treatments
#4
Janet S Soul
Acute symptomatic seizures caused by either diffuse or focal perinatal hypoxic-ischemic insults and intracranial hemorrhage in term newborns make up the large majority of all neonatal seizures. Acute seizures are one of the most common neurological disorders in term newborns who require admission to the neonatal intensive care unit. Despite elucidation of seizure pathogenesis in this population using animal models, treatment is limited by a lack of good evidence-based guidelines because of a paucity of rigorously conducted clinical trials or prospective studies in human newborns...
February 6, 2018: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29432237/hypoxic-ischemic-encephalopathy-and-other-neonatal-encephalopathies
#5
Hannah C Glass
PURPOSE OF REVIEW: Neonatal encephalopathy is the most common condition in neonates encountered by child neurologists. The etiology is most often global hypoxia-ischemia due to failure of cerebral perfusion to the fetus caused by uterine, placental, or umbilical cord compromise prior to or during delivery. Other etiologies of neonatal encephalopathy include ischemic stroke and intracranial hemorrhage, infection, developmental anomalies, and inborn errors of metabolism. RECENT FINDINGS: Therapeutic hypothermia is standard of care for the treatment of neonatal encephalopathy presumed to be caused by hypoxia-ischemia...
February 2018: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/29429466/-recurrent-convulsion-and-pulmonary-infection-complicated-by-psychomotor-retardation-in-an-infant
#6
Juan Xiong, Jing Peng, Hao-Lin Duan, Chen Chen, Xiao-Le Wang, Shi-Meng Chen, Fei Yin
A 4-month-old girl developed convulsion in the neonatal period, which was focal motor seizures in the initial stage and later became spasm and tonic spasm. And the girl also had psychomotor retardation and recurrent pulmonary infection. Electroencephalography showed hypsarrhythmia, normal results were obtained from cranial magnetic resonance imaging, cerebrospinal fluid examination, and urine organic acid analysis, as well as the spectral analyses of blood ammonia, blood lactic acid, blood amino acids, and acylcarnitines...
February 2018: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29427833/neurodevelopmental-outcomes-in-newborns-with-neonatal-seizures-caused-by-rotavirus-associated-leukoencephalopathy
#7
Kyung Yeon Lee, Young Cheol Weon, Seong Hoon Choi, Ki Won Oh, Hyewon Park
PURPOSE: Rotavirus infection has recently been reported to be associated with seizures accompanied by leukoencephalopathy in newborns. We aimed to determine long-term outcomes and prognostic factors in newborns with neonatal seizures caused by rotavirus-associated leukoencephalopathy. METHODS: We retrospectively reviewed the records and brain magnetic resonance (MR) images of 32 patients who fulfilled the following criteria: (1) neonatal seizures, (2) distinctive symmetric cerebral white matter lesions on diffusion-weighted MR images (DWI), (3) rotavirus infection, (4) absence of a specific etiology of seizures, except for the aforementioned DWI lesions, and (5) Korean Bayley Scales of Infant Development II (K-BSID-II) assessment after 12 months of age...
February 7, 2018: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29426807/neonatal-epilepsy-genetics
#8
REVIEW
Erika J T Axeen, Heather E Olson
Neonatal epilepsy genetics is a rapidly expanding field with recent technological advances in genomics leading to an expanding list of genetic disorders associated with neonatal-onset epilepsy. The genetic causes of neonatal epilepsy can be grouped into the following categories: (i) malformations of cortical development, (ii) genetic-metabolic, (iii) genetic-vascular, (iv) genetic-syndromic, and (v) genetic-cellular. Clinically, epilepsy in the neonate shows phenotypic overlap with pathogenic variants in unrelated genes causing similar clinical presentation (locus heterogeneity) and variants in the same gene leading to a wide clinical spectrum ranging from benign familial neonatal seizures to more severe epileptic encephalopathies (variable expressivity)...
January 31, 2018: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29426806/neonatal-epilepsies-clinical-management
#9
REVIEW
Marie-Coralie Cornet, Tristan T Sands, Maria Roberta Cilio
Whereas the majority of seizures in neonates are related to acute brain injury, a substantial minority are the first symptom of a neonatal-onset epilepsy, often linked to a pathogenic genetic variant. This defect may disrupt cortical development (e.g., lissencephaly, focal cortical dysplasia), lead to metabolic changes (e.g., pyridoxine-dependent epilepsy, sulfite oxidase deficiency) or lead to cortical dysfunction without metabolic or macroscopic structural changes (e.g., channelopathies, STXBP1). Historically, studies on treatment response and long-term consequences of neonatal seizures have lumped all etiologies together...
January 31, 2018: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29425059/prader-willi-syndrome-and-angelman-syndrome-visualisation-of-the-molecular-pathways-for-two-chromosomal-disorders
#10
Friederike Ehrhart, Kelly J M Janssen, Susan L Coort, Chris T Evelo, Leopold M G Curfs
OBJECTIVES: Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are two syndromes that are caused by the same chromosomal deletion on 15q11.2-q13. Due to methylation patterns, different genes are responsible for the two distinct phenotypes resulting in the disorders. Patients of both disorders exhibit hypotonia in neonatal stage, delay in development and hypopigmentation. Typical features for PWS include hyperphagia, which leads to obesity, the major cause of mortality, and hypogonadism...
February 9, 2018: World Journal of Biological Psychiatry
https://www.readbyqxmd.com/read/29420129/combined-application-of-glutamate-transporter-inhibitors-and-hypothermia-discriminates-principal-constituent-processes-involved-in-glutamate-homo-and-heteroexchange-in-brain-nerve-terminals
#11
Artem Pastukhov, Tatiana Borisova
Deep and profound hypothermia is successfully practiced in the prevention of ischemic stroke consequences and aortic arch cardiac surgery accompanied by reduction of cerebral circulation. Hypothermia is a current neuroprotection standard in hypoxic/ischemic encephalopathy. Drug-hypothermia administration is proposed as a new approach in pharmacotherapy for neonatal seizures. Also, hypothermia is useful as neuroprotective approach in long-term interplanetary space missions. We recently revealed gradual dynamics of hypothermia-induced decrease in transporter-mediated release and uptake of L-[14C]glutamate in presynaptic rat brain nerve terminals (synaptosomes), thereby confirming potent unspecific neuroprotective effect of hypothermia...
February 8, 2018: Therapeutic Hypothermia and Temperature Management
https://www.readbyqxmd.com/read/29417440/caffeine-protects-against-anticonvulsant-induced-impaired-neurogenesis-in-the-developing-rat-brain
#12
Stefanie Endesfelder, Ulrike Weichelt, Cornelia Schiller, Katja Winter, Clarissa von Haefen, Christoph Bührer
In preterm infants, phenobarbital is the first-line antiepileptic drug for neonatal seizures while caffeine is used for the treatment of apnea. Data from experimental animals suggest that phenobarbital and other anticonvulsants are toxic for the developing brain, while neuroprotective effects have been reported for caffeine both in newborn rodents and preterm human infants. To characterize the interaction of phenobarbital and caffeine in the hippocampus of the developing rodent brain, we examined the effects of both drugs given separately or together on postnatal neurogenesis after administration to neonatal rats throughout postnatal day (P) 4 to P6...
February 7, 2018: Neurotoxicity Research
https://www.readbyqxmd.com/read/29405934/perinatal-and-infantile-hypophosphatasia-clinical-features-and-treatment
#13
G Baujat, C Michot, K H Le Quan Sang, V Cormier-Daire
Hypophosphatasia (HPP) is a rare hereditary disease characterized by defective skeletal mineralization, and with a broad severity spectrum. The perinatal forms, lethal and non-lethal, are associated with severe neonatal respiratory distress, potential seizures, hypotrophy and marked hypotonia. The diagnosis is rapidly suggested by a combination of typical radiological signs, hypercalcemia, hyperphosphatemia and low alkaline phosphatase (ALP) activity. In the infantile form, the clinical signs appear before the age of six months, but the patients usually have no or very mild signs at birth...
May 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/29401530/antiquitin-deficiency-with-adolescent-onset-epilepsy-molecular-diagnosis-in-a-mother-of-affected-offsprings
#14
Rangan Srinivasaraghavan, Narayanan Parameswaran, Deborah Mathis, Celine Bürer, Barbara Plecko
Antiquitin deficiency is the most prevalent form of pyridoxine-dependent epilepsy. While most patients present with neonatal onset of therapy-resistant seizures, a few cases with late-onset during infancy have been described. Here, we describe the juvenile onset of epilepsy at the age of 17 years due to antiquitin deficiency in an Indian female with homozygosity for the most prevalent ALDH7A1 missense mutation, c.1279G > C; p.Glu427Gln in exon 14. The diagnosis was established along familial cosegregation analysis for an affected offspring, that had neonatal pyridoxine responsive seizures and had been found to be compound heterozygous for c...
February 5, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29397615/-clinical-features-and-gene-mutation-analysis-of-patients-with-niemann-pick-disease-type-c
#15
S C Ren, Z X Tian, Y X Deng, Y J Wang, X J Wu, Y Z Zhang, B Q Gao
Objective: To analyze the clinical manifestations, therapeutic efficacy, prognosis and characteristics of NPC1 mutation in Chinese patients with Niemann-Pick disease type C(NPC). Methods: Ten unrelated Chinese NPC patients were diagnosed by NPC1 mutation analysis from July 2013 to February 2017 in Beijing Tian Tan Hospital of Capital Medical University. Clinical data of 10 cases were analyzed retrospectively which included clinical manifestations, laboratory results and NPC1 gene mutation features, and a series of follow-up were carried out about therapeutic efficacy and prognosis...
January 23, 2018: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/29393846/population-pharmacokinetic-model-of-levetiracetam-in-korean-neonates-with-seizures%C3%A2
#16
Yun Seob Jung, Soon Min Lee, Min Soo Park, Kyungsoo Park
OBJECTIVE: This study was conducted to develop a population pharmacokinetic (PK) model of levetiracetam in Korean neonates with seizures. MATERIALS AND METHODS: Data were obtained from a retrospective study of 18 neonates with seizures admitted to the Neonatal Intensive Care Unit (NICU) of Severance Children's Hospital for the period of from 2013 to 2015. Sampling and dosing times were recorded by clinical research coordinators on case report forms. Demographic factors and laboratory results were tested as potential covariates for PK parameters...
February 2, 2018: International Journal of Clinical Pharmacology and Therapeutics
https://www.readbyqxmd.com/read/29393037/birth-asphyxia-in-a-danish-hospital-uptake-area-was-reduced-after-centralisation-of-deliveries%C3%A2
#17
Ester Garne, Nathali Vain-Nielsen, Anne Vinkel Hansen, Jesper Fenger-Grøn
Severe birth asphyxia is a major cause of neonatal morbidity and long-term disability and may be prevented. However, the consequences of organisational changes are rarely evaluated. 
Methods: A cohort study comparing morbidity and mortality for term-born infants born with severe birth asphyxia, defined as an Apgar score ≤ 5 at 5 min., before and after major changes in the organisation of births in a Danish district.
 Results: The study included 77 infants born in 1997-2004 and 40 infants born in 2009-2013 who were admitted to a neonatal intensive care unit with an Apgar score ≤ 5 at 5 min...
February 2018: Danish Medical Journal
https://www.readbyqxmd.com/read/29383681/kv7-3-compound-heterozygous-variants-in-early-onset-encephalopathy-reveal-additive-contribution-of-c-terminal-residues-to-pip2-dependent-k-channel-gating
#18
Paolo Ambrosino, Elena Freri, Barbara Castellotti, Maria Virginia Soldovieri, Ilaria Mosca, Laura Manocchio, Cinzia Gellera, Laura Canafoglia, Silvana Franceschetti, Barbara Salis, Nunzio Iraci, Francesco Miceli, Francesca Ragona, Tiziana Granata, Jacopo C DiFrancesco, Maurizio Taglialatela
Over one hundred mutations in the Kv7.2 (KCNQ2) gene encoding for phosphatidylinositol 4,5-bisphosphate (PIP2)-sensitive voltage-gated K+ channel subunits have been identified in early-onset epilepsies with wide phenotypic variability. By contrast, only few mutations in the closely related Kv7.3 (KCNQ3) gene have been reported, mostly associated with typical benign familial neonatal seizures (BFNS). We herein describe a patient affected by early onset epileptic encephalopathy (EOEE) carrying two Kv7.3 missense mutations (p...
January 30, 2018: Molecular Neurobiology
https://www.readbyqxmd.com/read/29376087/diagnostic-potential-of-neural-exosome-cargo-as-biomarkers-for-acute-brain-injury
#19
Laura Goetzl, Nana Merabova, Nune Darbinian, Diana Martirosyan, Erica Poletto, Keri Fugarolas, Ogechukwu Menkiti
Objective: Neuronal exosomes purified from peripheral blood samples have been proposed as diagnostic tool in the setting of acute brain injury but never tested clinically. We hypothesized that exosome protein biomarkers would change over time following acute hypoxic brain injury and would predict response to therapy. Methods: Synaptopodin (SYNPO), an actin-associated protein present in postsynaptic spines, was evaluated as a potential biomarker as well as: synaptophysin, neuron-specific enolase, and mitochondrial cytochrome c oxidase...
January 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29372144/antenatal-corticosteroids-and-outcomes-of-preterm-small-for-gestational-age-neonates-in-a-single-medical-center
#20
Woo Jeng Kim, Young Sin Han, Hyun Sun Ko, In Yang Park, Jong Chul Shin, Jeong Ha Wie
Objective: This study investigated the effect of an antenatal corticosteroid (ACS) in preterm small-for-gestational-age (SGA) neonate. Methods: This study was a retrospective cohort study. We compared women who received ACS with unexposed controls and evaluated neonatal complications among those having a singleton SGA neonate born between 29 and 34 complete gestational weeks. The neonates born after 32 weeks of gestation were divided into subgroups. Multivariable logistic regression analysis was performed...
January 2018: Obstetrics & Gynecology Science
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