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https://www.readbyqxmd.com/read/28914984/hypercalcemic-disorders-in-children
#1
REVIEW
Victoria J Stokes, Morten F Nielsen, Fadil M Hannan, Rajesh V Thakker
Hypercalcemia is defined as a serum calcium concentration that is greater than 2 standard deviations above the normal mean, which in children may vary with age and sex, reflecting changes in the normal physiology at each developmental stage. Hypercalcemic disorders in children may present with hypotonia, poor feeding, vomiting, constipation, abdominal pain, lethargy, polyuria, dehydration, failure to thrive and seizures. In severe cases renal failure, pancreatitis and reduced consciousness may also occur and older children and adolescents may present with psychiatric symptoms...
September 15, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28910781/weighted-performance-metrics-for-automatic-neonatal-seizure-detection-using-multi-scored-eeg-data
#2
A H Ansari, P J Cherian, A Caicedo, K Jansen, A Dereymaeker, L De Wispelaere, C Dielman, J Vervisch, P Govaert, M De Vos, G Naulaers, S Van Huffel
In neonatal intensive care units, there is a need for around the clock monitoring of EEG, especially for recognizing seizures. An automated seizure detector with an acceptable performance can partly fill this need. In order to develop a detector, an extensive dataset labeled by experts is needed. However, accurately defining neonatal seizures on EEG is a challenge, especially when seizure discharges do not meet exact definitions of repetitiveness or evolution in amplitude and frequency. When several readers score seizures independently, disagreement can be high...
September 11, 2017: IEEE Journal of Biomedical and Health Informatics
https://www.readbyqxmd.com/read/28879899/hyperekplexia-a-forgotten-diagnosis-clinched-by-next-generation-sequencing
#3
Meenakshi Lallar, Anukool Srivastava, Shubha R Phadke
Hyperekplexia is a rare early neonatal onset, potentially treatable, neurological disorder, characterized by a triad of immediate neonatal-onset stiffness, an exaggerated startle reflex in response to tactile or auditory stimuli followed by short periodical generalized stiffness. It is a monogenic genetically heterogeneous condition which can be potentially life threatening due to apneic episodes and is usually misdiagnosed as seizures. Here, we report two female siblings with hyperekplexia who were being treated by multiple antiepileptic medications for seizure-like episodes...
September 2017: Neurology India
https://www.readbyqxmd.com/read/28878622/ganaxolone-a-new-treatment-for-neonatal-seizures
#4
REVIEW
Tamara Yawno, Suzie L Miller, Laura Bennet, Flora Wong, Jonathan J Hirst, Michael Fahey, David W Walker
Neonatal seizures are amongst the most common neurologic conditions managed by a neonatal care service. Seizures can exacerbate existing brain injury, induce "de novo" injury, and are associated with neurodevelopmental disabilities in post-neonatal life. In this mini-review, we present evidence in support of the use of ganaxolone, a GABA(A) agonist neurosteroid, as a novel neonatal therapy. We discuss evidence that ganaxolone can provide both seizure control and neuroprotection with a high safety profile when administered early following birth-related hypoxia, and show evidence that it is likely to prevent or reduce the incidence of the enduring disabilities associated with preterm birth, cerebral palsy, and epilepsy...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28867038/-therapeutic-management-of-neonatal-arterial-cerebral-infarction-and-neuroprotection-perspectives
#5
O Baud, S Auvin, E Saliba, V Biran
Neonatal seizure related to stroke is a common diagnostic feature. Their treatment, although widely debated even today must be initiated in case of status epilepticus, clinical seizures of more than 5 minutes duration or short (> 30 secondes) and repeated clinical seizures (2 or more per hour). The treatment of neonatal seizures is a challenge that remains only partially solved. It should take into account the etiology of seizures, type of brain lesions and clinical/electrical response to treatment after the first line treatment...
September 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28867037/-place-of-eeg-in-the-management-of-arterial-ischemic-stroke-newborn
#6
S Nguyen The Tich
The EEG has a key role in the management of neonatal seizures, which are the typical mode of revelation of neonatal ischemic stroke. The EEG should be started as soon as possible in case of suspected seizure. Some EEG features are evocative of neonatal stroke, typically asymmetry of background activity with the presence of focal spikes and focal seizures. The EEG should be prolonged and always associated with a video as pauci-symptomatic or subclinical seizures are frequent, including some status epilepticus...
September 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28867032/-revelation-of-the-circumstances-of-the-accident-vascular-arterial-ischemic-brain-in-at-term-or-near-term-and-referral
#7
F Cneude, J-F Diependaele, J-L Chabernaud
The neonatal arterial ischemic stroke is an emergency. Recurrent focal seizures, generally occurring in the first 24-72 hours after birth, are the commonest first clinical signs. When neonatal arterial ischemic stroke is suspected, optimal initial management involves careful supportive care including treatment of clinical and frequent or prolonged subclinical seizures, correction of the possible metabolic disorders and their prevention. Contrary to hypoxic ischemic encephalopathy, therapeutic hypothermia is not indicated...
September 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28861076/case-of-meningitis-in-a-neonate-caused-by-an-extended-spectrum-beta-lactamase-producing-strain-of-hypervirulent-klebsiella-pneumoniae
#8
Khalit S Khaertynov, Vladimir A Anokhin, Yuri N Davidyuk, Irina V Nicolaeva, Svetlana V Khalioullina, Dina R Semyenova, Evgeny Y Alatyrev, Natalia N Skvortsova, Levon G Abrahamyan
Klebsiella pneumoniae is one of the most important infectious agents among neonates. This pathogen has a potential to develop an increased antimicrobial resistance and virulence. The classic non-virulent strain of K. pneumoniae, producing an extended-spectrum beta-lactamases (ESBL), is associated with nosocomial infection mainly in preterm neonates. Hypervirulent K. pneumoniae strains are associated with invasive infection among previously healthy ambulatory patients, and most of them exhibit antimicrobial susceptibility...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28854840/should-delivery-timing-for-repeat-cesarean-be-reconsidered-based-on-dating-criteria
#9
Kathleen F Brookfield, Sarah S Osmundson, Aaron B Caughey
PURPOSE: We sought to examine if the method of pregnancy dating at five increasing term gestational ages is associated with increasing neonatal morbidity. MATERIALS AND METHODS: A cohort of women who underwent elective repeat cesarean delivery at > 37 weeks' gestation were identified from the NICHD MFMU Network registry. We excluded women who were in labor, those carrying a fetus with a congenital anomaly, those with a nonreassuring fetal heart tracing, and those with preeclampsia, preexisting chronic hypertension or diabetes...
August 30, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28852582/term-neonate-with-atypical-hypoxic-ischemic-encephalopathy-presentation-a-case-report
#10
Nick Townley, Emily McNellis, Venkatesh Sampath
We describe a case of atypical hypoxic-ischemic encephalopathy (HIE) in a neonate following a normal pregnancy and delivery who was found to have an umbilical vein thrombosis. The infant arrived to our center with continuous bicycling movement of her lower extremities. She had a continuous electroencephalogram that showed burst suppression and magnetic resonance imaging of the brain showed diffusely abnormal cerebral cortical/subcortical diffusion restriction which may be secondary hypoxic-ischemic injury. Interestingly, a pathology report noted a focal umbilical vein thrombosis appearing to have compressed an umbilical artery with associated arterial dissection and hematoma...
July 2017: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/28844439/comorbidities-and-risk-factors-associated-with-newly-diagnosed-epilepsy-in-the-u-s-pediatric-population
#11
Ahyuda Oh, David J Thurman, Hyunmi Kim
Neurobehavioral comorbidities can be related to underlying etiology of epilepsy, epilepsy itself, and adverse effects of antiepileptic drugs. We examined the relationship between neurobehavioral comorbidities and putative risk factors for epilepsy in children with newly diagnosed epilepsy. We conducted a retrospective analysis of children aged ≤18years in 50 states and the District of Columbia, using the Truven Health MarketScan® commercial claims and encounters database from January 1, 2009 to December 31, 2013...
August 22, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28838815/standardized-computer-based-organized-reporting-of-eeg-score-second-version
#12
REVIEW
Sándor Beniczky, Harald Aurlien, Jan C Brøgger, Lawrence J Hirsch, Donald L Schomer, Eugen Trinka, Ronit M Pressler, Richard Wennberg, Gerhard H Visser, Monika Eisermann, Beate Diehl, Ronald P Lesser, Peter W Kaplan, Sylvie Nguyen The Tich, Jong Woo Lee, Antonio Martins-da-Silva, Hermann Stefan, Miri Neufeld, Guido Rubboli, Martin Fabricius, Elena Gardella, Daniella Terney, Pirgit Meritam, Tom Eichele, Eishi Asano, Fieke Cox, Walter van Emde Boas, Ruta Mameniskiene, Petr Marusic, Jana Zárubová, Friedhelm C Schmitt, Ingmar Rosén, Anders Fuglsang-Frederiksen, Akio Ikeda, David B MacDonald, Kiyohito Terada, Yoshikazu Ugawa, Dong Zhou, Susan T Herman
Standardized terminology for computer-based assessment and reporting of EEG has been previously developed in Europe. The International Federation of Clinical Neurophysiology established a taskforce in 2013 to develop this further, and to reach international consensus. This work resulted in the second, revised version of SCORE (Standardized Computer-based Organized Reporting of EEG), which is presented in this paper. The revised terminology was implemented in a software package (SCORE EEG), which was tested in clinical practice on 12,160 EEG recordings...
August 9, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/28832002/pointed-rhythmic-theta-waves-a-unique-eeg-pattern-in-kcnq2-related-neonatal-epileptic-encephalopathy
#13
Sarah Grace Buttle, Erick Sell, David Dyment, Srinivas Bulusu, Daniela Pohl
We report the case of an infant with KCNQ2-related neonatal epileptic encephalopathy presenting with intractable seizures beginning on the second day of life, which were resistant to multiple antiepileptic drugs. Continuous EEG recordings starting on the sixth day of life demonstrated a unique pattern of inter-and postictal focal rhythmic pointed theta waves of lambdoid morphology in the immediate postictal period, localizing to the side of the antecedent seizure. Interictal EEG exhibited discontinuous background, including patterns of burst suppression and multifocal discharges, predominantly in the centrotemporal regions, which were aggravated during sleep...
August 23, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28818555/pyridoxine-5-phosphate-oxidase-pnpo-deficiency-clinical-and-biochemical-alterations-associated-with-the-c-347g-a-p-%C3%A2-arg116gln-mutation
#14
Martino L di Salvo, Mario Mastrangelo, Isabel Nogués, Manuela Tolve, Alessandro Paiardini, Carla Carducci, Davide Mei, Martino Montomoli, Angela Tramonti, Renzo Guerrini, Roberto Contestabile, Vincenzo Leuzzi
BACKGROUND: Pyridoxal-5(')-phosphate oxidase (PNPO) deficiency presents as a severe neonatal encephalopathy responsive to pyridoxal-5(')-phosphate (PLP) or pyridoxine. Recent studies widened the phenotype of this condition and detected genetic variants on PNPO gene whose pathogenic role and clinical expression remain to be established. OBJECTIVE: This paper aims to characterize the functional effects of the c.347G>A (p.Arg116Gln) mutation in the PNPO gene in order to define its pathogenicity and describe the clinical features of new patients with epilepsy carrying this mutation...
August 12, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28817111/prospective-cohort-study-for-identification-of-underlying-genetic-causes-in-neonatal-encephalopathy-using-whole-exome-sequencing
#15
Theodora U J Bruun, Caro-Lyne DesRoches, Diane Wilson, Vann Chau, Tadashi Nakagawa, Masahiro Yamasaki, Shinya Hasegawa, Toshiyuki Fukao, Christian Marshall, Saadet Mercimek-Andrews
PurposeNeonatal encephalopathy, which is characterized by a decreased level of consciousness, occurs in 1-7/1,000 live-term births. In more than half of term newborns, there is no identifiable etiological factor. To identify underlying genetic defects, we applied whole-exome sequencing (WES) in term newborns with neonatal encephalopathy as a prospective cohort study.MethodsTerm newborns with neonatal encephalopathy and no history of perinatal asphyxia were included. WES was performed using patient and both parents' DNA...
August 17, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28811085/the-use-of-phenobarbital-and-other-anti-seizure-drugs-in-newborns
#16
REVIEW
Mohamed El-Dib, Janet S Soul
Neonatal seizures constitute the most frequent presenting neurologic sign encountered in the neonatal intensive care unit. Despite limited efficacy and safety data, phenobarbital continues to be used near-universally as the first-line anti-seizure drug (ASD) in neonates. The choice of second-line ASDs varies by provider and institution, and is still not supported by sufficient scientific evidence. In this review, we discuss the available evidence supporting the efficacy, mechanism of action, potential adverse effects, key pharmacokinetic characteristics such as interaction with therapeutic hypothermia, logistical issues, and rationale for use of neonatal ASDs...
October 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28806489/characteristics-of-spontaneous-births-attended-by-midwives-and-physicians-in-us-hospitals-in-2014
#17
Patrick Thornton
INTRODUCTION: This study compares characteristics and birth outcomes of women attended by certified nurse-midwives/certified midwives (midwives) and physicians in US hospitals in 2014. METHODS: Data reported in 2014 on the 2003 version of the US birth certificate were examined. Spontaneous vaginal births attributed to midwives and physicians and occurring in hospitals were included. Demographic and risk profiles and adjusted odds ratios for maternal and newborn outcomes were compared by provider type...
August 14, 2017: Journal of Midwifery & Women's Health
https://www.readbyqxmd.com/read/28804536/combined-respiratory-chain-deficiency-and-uqcc2-mutations-in-neonatal-encephalomyopathy-defective-supercomplex-assembly-in-complex-iii-deficiencies
#18
René G Feichtinger, Michaela Brunner-Krainz, Bader Alhaddad, Saskia B Wortmann, Reka Kovacs-Nagy, Tatjana Stojakovic, Wolfgang Erwa, Bernhard Resch, Werner Windischhofer, Sarah Verheyen, Sabine Uhrig, Christian Windpassinger, Felix Locker, Christine Makowski, Tim M Strom, Thomas Meitinger, Holger Prokisch, Wolfgang Sperl, Tobias B Haack, Johannes A Mayr
Vertebrate respiratory chain complex III consists of eleven subunits. Mutations in five subunits either mitochondrial (MT-CYB) or nuclear (CYC1, UQCRC2, UQCRB, and UQCRQ) encoded have been reported. Defects in five further factors for assembly (TTC19, UQCC2, and UQCC3) or iron-sulphur cluster loading (BCS1L and LYRM7) cause complex III deficiency. Here, we report a second patient with UQCC2 deficiency. This girl was born prematurely; pregnancy was complicated by intrauterine growth retardation and oligohydramnios...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/28801146/bh4-deficiency-identified-in-a-neonatal-screening-program-for-hyperphenylalaninemia
#19
Cezar Antonio Abreu de Souza, Michelle Rosa Andrade Alves, Rosangelis Del Lama Soares, Viviane de Cássia Kanufre, Valéria de Melo Rodrigues, Rocksane de Carvalho Norton, Ana Lúcia Pimenta Starling, Marcos José Burle de Aguiar
OBJECTIVES: To show the general prevalence and to characterize tetrahydrobiopterin (BH4) deficiencies with hyperphenylalaninemia, identified by the Neonatal Screening Program of the State of Minas Gerais (NSPMG). METHODS: Descriptive study of patients with BH4 deficiency identified by the NSPMG. RESULTS: The prevalence found was 2.1 for 1,000,000 live births, with a frequency of 1.71% among hyperphenylalaninemias. There were four cases (40%) with 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency, three with GTP cyclohydrolase I - autosomal recessive form (GTPCH I) deficiency, and three with dihydropteridine reductase (DHPR) deficiency (30% each)...
August 8, 2017: Jornal de Pediatria
https://www.readbyqxmd.com/read/28798906/cerebral-sinovenous-thrombosis
#20
REVIEW
Rebecca Ichord
Cerebral sinovenous thrombosis (CSVT) is a rare but serious cerebrovascular disorder affecting children from the newborn period through childhood and adolescence. The incidence is estimated at 0.6/100,000/year, with 30-50% occurring in newborns. Causes are diverse and are highly age dependent. Acute systemic illness is the dominant risk factor among newborns. In childhood CSVT, acute infections of the head and neck such as mastoiditis are most common, followed by chronic underlying diseases such as nephrotic syndrome, cancer, and inflammatory bowel disease...
2017: Frontiers in Pediatrics
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